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 NHEJ1 79840 broad.mit.edu 37 2 220022292 220022292 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:220022292C>A ENST00000356853.5 - 3 425 c.292G>T c.(292-294)Gat>Tat p.D98Y NHEJ1_ENST00000409720.1_Missense_Mutation_p.D98Y NM_024782.2 NP_079058.1 Q9H9Q4 NHEJ1_HUMAN nonhomologous end-joining factor 1 98 B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation nonhomologous end joining complex|nucleus DNA binding|identical protein binding kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 12 Renal(207;0.0915) Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112) GCCACACAATCACAGGAGAAG 0.527000 Non-homologous end-joining 8 49 1.76689e-08 2.21011e-08 1 1 0 LRPPRC 10128 broad.mit.edu 37 2 44132909 44132909 + Missense_Mutation SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:44132909G>A ENST00000260665.7 - 31 3343 c.3286C>T c.(3286-3288)Cac>Tac p.H1096Y NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 1096 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CCCTTGATGTGGGTCTCCGCG 0.423000 14 65 0 0 1 0 0 BMP7 655 broad.mit.edu 37 20 55758925 55758925 + Nonsense_Mutation SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr20:55758925G>A ENST00000395863.3 - 4 1316 c.811C>T c.(811-813)Cag>Tag p.Q271* BMP7_ENST00000450594.2_Nonsense_Mutation_p.Q271*|BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Intron NM_001719.2 NP_001710.1 P18075 BMP7_HUMAN bone morphogenetic protein 7 271 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) TGCTTGTTCTGGGGCCCGTGC 0.622000 10 39 0 0 1 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215728 140215728 + Missense_Mutation SNP C C G rs139331486 byFrequency TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr5:140215728C>G ENST00000525929.1 + 1 1760 c.1760C>G c.(1759-1761)gCg>gGg p.A587G PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A587G|PCDHA1_ENST00000504120.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTGTGGGCGCGGGCCATGTG 0.657000 24 101 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232649638 232649638 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:232649638C>A ENST00000366630.1 - 2 1806 c.1448G>T c.(1447-1449)gGg>gTg p.G483V SIPA1L2_ENST00000262861.4_Missense_Mutation_p.G483V Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 483 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) ATAATAGGCCCCAAGGTCAAT 0.463000 52 261 3.07002e-29 5.269e-29 1 1 0 TNR 7143 broad.mit.edu 37 1 175372482 175372482 + Missense_Mutation SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:175372482G>A ENST00000367674.1 - 4 1478 c.770C>T c.(769-771)aCt>aTt p.T257I TNR_ENST00000263525.2_Missense_Mutation_p.T257I NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 257 Cys-rich.|EGF-like 3. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GTCCTCGCCAGTGTAGGGCTC 0.622000 10 111 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134851891 134851891 + Splice_Site SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr3:134851891G>T ENST00000398015.3 + 5 1667 c.1297_splice c.e5+1 p.A433_splice EPHB1_ENST00000493838.1_5'UTR NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 433 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 AAACCAAGCCGGTAAGTCTGG 0.567000 4 35 0.014758 0.0152969 1 1 0 SERPINA7 6906 broad.mit.edu 37 X 105278240 105278240 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chrX:105278240G>T ENST00000327674.4 - 3 1365 c.1030C>A c.(1030-1032)Ctg>Atg p.L344M SERPINA7_ENST00000487487.1_5'UTR|SERPINA7_ENST00000372563.1_Missense_Mutation_p.L344M P05543 THBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 344 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) GAAAGTTTCAGACCATTGTCC 0.368000 24 21 1.66031e-10 2.22783e-10 1 1 0 WNT3A 89780 broad.mit.edu 37 1 228210488 228210488 + Silent SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:228210488C>A ENST00000284523.1 + 2 270 c.192C>A c.(190-192)ccC>ccA p.P64P WNT3A_ENST00000366753.2_Silent_p.P64P NM_033131.3 NP_149122.1 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 64 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) AGATCATGCCCAGCGTGGCCG 0.647000 16 71 3.52763e-06 4.0678e-06 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77766583 77766583 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr8:77766583C>A ENST00000521891.2 + 10 7874 c.7426C>A c.(7426-7428)Caa>Aaa p.Q2476K ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2450K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2431K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2431K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2431 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAGTCCACTGCAAATTTCCAT 0.527000 HNSCC(33;0.089) 11 64 5.50884e-06 6.31292e-06 1 1 0 GRM7 2917 broad.mit.edu 37 3 6903551 6903551 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr3:6903551G>T ENST00000486284.1 + 1 750 c.476G>T c.(475-477)aGt>aTt p.S159I GRM7_ENST00000403881.1_Missense_Mutation_p.S159I|GRM7_ENST00000389336.4_Missense_Mutation_p.S159I|GRM7_ENST00000357716.4_Missense_Mutation_p.S159I|GRM7_ENST00000402647.2_Missense_Mutation_p.S159I NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 159 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GCTTCGGGGAGTTCGGTCTCC 0.612000 13 67 6.31663e-08 7.69253e-08 1 1 0 HPDL 84842 broad.mit.edu 37 1 45793448 45793448 + Missense_Mutation SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:45793448G>A ENST00000334815.3 + 1 904 c.628G>A c.(628-630)Ggg>Agg p.G210R NM_032756.2 NP_116145.1 Q96IR7 HPDL_HUMAN 4-hydroxyphenylpyruvate dioxygenase-like 210 aromatic amino acid family metabolic process 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 Acute lymphoblastic leukemia(166;0.155) GTTTGGGCTTGGGGGACTGAG 0.637000 17 85 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121239565 121239565 + Missense_Mutation SNP A A G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr8:121239565A>G ENST00000297848.3 + 17 2381 c.2111A>G c.(2110-2112)gAg>gGg p.E704G COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.E609G|COL14A1_ENST00000309791.4_Missense_Mutation_p.E704G|COL14A1_ENST00000537875.1_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 704 Fibronectin type-III 5. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AGCGAGAGTGAGGTGGTGACT 0.517000 23 88 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103270611 103270611 + Silent SNP T T C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr7:103270611T>C ENST00000424685.2 - 20 2637 c.2478A>G c.(2476-2478)gtA>gtG p.V826V RELN_ENST00000428762.1_Silent_p.V826V|RELN_ENST00000343529.5_Silent_p.V826V P78509 RELN_HUMAN reelin 826 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTGGTAGTTCTACGGAGATTA 0.343000 20 84 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11038944 11038944 + RNA SNP A A T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr21:11038944A>T ENST00000470054.1 - 0 1259 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) ATGTCTGCTGATAATGAAAAT 0.418000 40 847 0 0 1 0 0 STK11 6794 broad.mit.edu 37 19 1220652 1220652 + Missense_Mutation SNP A A G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr19:1220652A>G ENST00000326873.7 + 5 1843 c.670A>G c.(670-672)Att>Gtt p.I224V NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 224 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(2) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GCCGCCCGAGATTGCCAACGG 0.706000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 14 14 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228487609 228487609 + Missense_Mutation SNP A A T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:228487609A>T ENST00000570156.2 + 51 13575 c.13501A>T c.(13501-13503)Atg>Ttg p.M4501L OBSCN_ENST00000366707.4_Missense_Mutation_p.M1191L|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000359599.6_3'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3544 Ig-like 46. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CATAGAGGATATGAGAAACCA 0.512000 16 149 0 0 1 0 0 PARP9 83666 broad.mit.edu 37 3 122283098 122283098 + Translation_Start_Site SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr3:122283098G>T ENST00000462315.1 - 0 64 DTX3L_ENST00000296161.4_5'UTR|PARP9_ENST00000360356.2_Intron|PARP9_ENST00000477522.2_Intron|PARP9_ENST00000492382.1_De_novo_Start_OutOfFrame NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) TCACCCGGCAGGCCGCTCTCC 0.711000 3 1 1 1 1 1 0 ZNF649 65251 broad.mit.edu 37 19 52394964 52394964 + Missense_Mutation SNP T T A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr19:52394964T>A ENST00000354957.3 - 5 709 c.425A>T c.(424-426)aAt>aTt p.N142I ZNF649_ENST00000600738.1_Missense_Mutation_p.N142I|CTC-429C10.2_ENST00000600329.1_RNA NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) TTGTTCATGATTATCATGGAG 0.383000 44 205 0 0 1 0 0 TRBV6-9 28598 broad.mit.edu 37 7 142104244 142104244 + RNA SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr7:142104244G>T ENST00000390379.1 - 0 220 TCCTTTGTCAGTGATACCAGC 0.522000 59 197 2.40265e-35 4.242e-35 1 1 0 TTN 7273 broad.mit.edu 37 2 179600298 179600298 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:179600298C>A ENST00000589042.1 - 50 15099 c.14875G>T c.(14875-14877)Gtc>Ttc p.V4959F TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V4642F|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V3715F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4642 Ig-like 30. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTGTACAGACATAGGTTCCT 0.433000 7 39 5.18039e-06 5.95503e-06 1 1 0 COX6C 1345 broad.mit.edu 37 8 100904277 100904277 + Splice_Site SNP T T C rs1130474 by1000genomes TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr8:100904277T>C ENST00000297564.2 - 2 46 c.e2-2 COX6C_ENST00000522940.1_5'UTR|COX6C_ENST00000523016.1_5'UTR|COX6C_ENST00000518171.1_5'UTR|COX6C_ENST00000524245.1_5'UTR|COX6C_ENST00000520271.1_5'UTR|COX6C_ENST00000520468.2_5'UTR|COX6C_ENST00000517682.2_Splice_Site P09669 COX6C_HUMAN cytochrome c oxidase subunit VIc respiratory electron transport chain integral to membrane|mitochondrial inner membrane cytochrome-c oxidase activity HMGA2/COX6C(2) liver(1)|lung(2) 3 all cancers(13;8.32e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) ATACGTAtgctaaccttaaga 0.453000 T HMGA2 uterine leiomyoma 7 73 0 0 1 0 0 CTC1 80169 broad.mit.edu 37 17 8139506 8139506 + Missense_Mutation SNP T T A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr17:8139506T>A ENST00000315684.8 - 6 954 c.947A>T c.(946-948)cAg>cTg p.Q316L NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 316 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 TTCCAGCTCCTGCACACATTC 0.562000 38 76 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 97544653 97544653 + Missense_Mutation SNP C C G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:97544653C>G ENST00000370192.3 - 23 3057 c.2957G>C c.(2956-2958)tGt>tCt p.C986S NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 986 4Fe-4S ferredoxin-type 3. 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) ACAGCCTGTACAAGTGTCGGT 0.458000 24 176 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72832261 72832261 + Silent SNP A A T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr16:72832261A>T ENST00000268489.5 - 9 4992 c.4320T>A c.(4318-4320)acT>acA p.T1440T ZFHX3_ENST00000397992.5_Silent_p.T526T NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1440 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GAGCCTGGAAAGTTCGGAAAC 0.537000 17 154 0 0 1 0 0 WASF2 10163 broad.mit.edu 37 1 27745469 27745469 + Missense_Mutation SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:27745469G>A ENST00000430629.2 - 3 466 c.251C>T c.(250-252)cCc>cTc p.P84L WASF2_ENST00000536657.1_Missense_Mutation_p.P84L NM_001201404.1|NM_006990.3 NP_001188333.1|NP_008921.1 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 84 actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) TTCTTCCTTGGGATCCAGCTG 0.428000 23 78 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167249008 167249008 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr3:167249008C>A ENST00000308378.3 - 9 1362 c.1057G>T c.(1057-1059)Gac>Tac p.D353Y WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.D417Y|WDR49_ENST00000476376.1_Missense_Mutation_p.D178Y NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 353 p.D353H(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 GTAGAATGGTCTGCCATGGGG 0.433000 15 77 4.7546e-09 6.02903e-09 1 1 0 DIRAS3 9077 broad.mit.edu 37 1 68512912 68512912 + Silent SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:68512912C>A ENST00000370981.1 - 4 705 c.69G>T c.(67-69)ctG>ctT p.L23L DIRAS3_ENST00000395201.1_Silent_p.L23L|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA O95661 DIRA3_HUMAN DIRAS family, GTP-binding RAS-like 3 23 regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GGAGGATAAGCAGGGCGGGCA 0.587000 16 73 6.31663e-08 7.69253e-08 1 1 0 THBS4 7060 broad.mit.edu 37 5 79355604 79355604 + Missense_Mutation SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr5:79355604G>A ENST00000350881.2 + 7 1053 c.863G>A c.(862-864)cGt>cAt p.R288H THBS4_ENST00000511733.1_Missense_Mutation_p.R197H|CTD-2201I18.1_ENST00000503007.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 288 EGF-like 1. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) CGCCCACCTCGTCGGTGTGAC 0.602000 17 232 0 0 1 0 0 PPBP 5473 broad.mit.edu 37 4 74853311 74853311 + Silent SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr4:74853311G>A ENST00000296028.3 - 2 300 c.207C>T c.(205-207)acC>acT p.T69T NM_002704.3 NP_002695.1 P02775 CXCL7_HUMAN pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) 69 chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division extracellular space|platelet alpha granule lumen chemokine activity|glucose transmembrane transporter activity|growth factor activity breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2) 10 Breast(15;0.00136) all cancers(17;0.00273)|Lung(101;0.196) GAATTCCAGAGGTTGTCTTTA 0.413000 22 95 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56458992 56458992 + Splice_Site SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr6:56458992C>A ENST00000370754.5 - 48 12102 c.e48-1 DST_ENST00000312431.6_Splice_Site|DST_ENST00000370788.2_Splice_Site|DST_ENST00000446842.2_Splice_Site|DST_ENST00000361203.3_Splice_Site|DST_ENST00000370769.4_Splice_Site|DST_ENST00000421834.2_Splice_Site|DST_ENST00000244364.6_Splice_Site Q03001 DYST_HUMAN dystonin cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CGTGTTGGGCCTATGTGAAAA 0.473000 42 179 8.04919e-23 1.30844e-22 1 1 0 ITGAX 3687 broad.mit.edu 37 16 31374284 31374284 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr16:31374284G>T ENST00000268296.4 + 13 1509 c.1388G>T c.(1387-1389)tGc>tTc p.C463F ITGAX_ENST00000562522.1_Missense_Mutation_p.C463F NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 463 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 GCCTCCCTCTGCTCCGTGGAC 0.672000 37 98 1.49673e-21 2.36023e-21 1 1 0 SHROOM4 57477 broad.mit.edu 37 X 50376865 50376865 + Silent SNP T T C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chrX:50376865T>C ENST00000376020.2 - 4 2233 c.2208A>G c.(2206-2208)ccA>ccG p.P736P SHROOM4_ENST00000289292.7_Silent_p.P736P|SHROOM4_ENST00000460112.3_Silent_p.P620P NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 736 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) CTGCCACAAGTGGCTGTGAAT 0.542000 16 27 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 271189 271189 + Silent SNP G G T rs138827697 byFrequency TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr12:271189G>T ENST00000538872.1 + 8 2659 c.2541G>T c.(2539-2541)acG>acT p.T847T IQSEC3_ENST00000326261.4_Silent_p.T847T|IQSEC3_ENST00000382841.2_Silent_p.T544T Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 847 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) ACCACGTCACGTACGTCACCA 0.532000 8 33 5.4927e-09 6.94112e-09 1 1 0 SEL1L 6400 broad.mit.edu 37 14 81972490 81972490 + Silent SNP T T G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr14:81972490T>G ENST00000336735.4 - 4 552 c.436A>C c.(436-438)Agg>Cgg p.R146R SEL1L_ENST00000555824.1_Silent_p.R146R NM_005065.5 NP_005056.3 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like (C. elegans) 146 Fibronectin type-II.|Interaction with ERLEC1, OS9 and SYVN1. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 28 BRCA - Breast invasive adenocarcinoma(234;0.0299) CCATCTTCCCTCCCATCTGAT 0.473000 54 174 0 0 1 0 0 CD33 945 broad.mit.edu 37 19 51738461 51738461 + Silent SNP T T A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr19:51738461T>A ENST00000436584.2 + 4 469 c.414T>A c.(412-414)gcT>gcA p.A138A CD33_ENST00000421133.2_Silent_p.A138A|CD33_ENST00000262262.4_Silent_p.A265A|CD33_ENST00000391796.3_Silent_p.A265A P20138 CD33_HUMAN CD33 molecule 265 cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) TTGGAGGAGCTGGTGTTACAG 0.498000 14 68 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212652753 212652753 + Nonsense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:212652753C>A ENST00000342788.4 - 4 863 c.553G>T c.(553-555)Gga>Tga p.G185* ERBB4_ENST00000402597.1_Nonsense_Mutation_p.G185*|ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.G185* NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 185 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TACTTACATCCTGAACTACCA 0.343000 TSP Lung(8;0.080) 16 62 6.31663e-08 7.69253e-08 1 1 0 SOHLH1 402381 broad.mit.edu 37 9 138588636 138588636 + Silent SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr9:138588636C>T ENST00000298466.5 - 5 543 c.483G>A c.(481-483)aaG>aaA p.K161K SOHLH1_ENST00000425225.1_Silent_p.K161K NM_001012415.2 NP_001012415.2 Q5JUK2 SOLH1_HUMAN spermatogenesis and oogenesis specific basic helix-loop-helix 1 161 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1) 12 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) CCAGAAACGCCTTCACATCTG 0.637000 17 48 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56297072 56297072 + Silent SNP A A G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr19:56297072A>G ENST00000443188.1 - 12 3731 c.3021T>C c.(3019-3021)aaT>aaC p.N1007N NLRP11_ENST00000360133.3_Silent_p.N953N|NLRP11_ENST00000592953.1_Silent_p.N908N|NLRP11_ENST00000589824.2_Silent_p.N953N|NLRP11_ENST00000589093.1_Silent_p.N1007N NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 1007 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TGTAATCCAAATTAGAATTAG 0.398000 38 88 0 0 1 0 0 PSMB11 122706 broad.mit.edu 37 14 23512245 23512245 + Missense_Mutation SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr14:23512245C>T ENST00000408907.2 + 1 870 c.811C>T c.(811-813)Cac>Tac p.H271Y NM_001099780.1 NP_001093250.1 A5LHX3 PSB11_HUMAN proteasome (prosome, macropain) subunit, beta type, 11 271 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|kidney(2)|lung(4) 7 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00643) TGCCACTGCCCACAGAGCTGC 0.612000 6 29 0 0 1 0 0 DCLK1 9201 broad.mit.edu 37 13 36700232 36700232 + Silent SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr13:36700232G>T ENST00000255448.4 - 2 254 c.43C>A c.(43-45)Cgg>Agg p.R15R DCLK1_ENST00000379892.4_Silent_p.R15R|DCLK1_ENST00000360631.3_Silent_p.R15R NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 15 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) GCCTTATCCCGCTCGTCGAAG 0.597000 11 92 4.3838e-07 5.20136e-07 1 1 0 ANK1 286 broad.mit.edu 37 8 41551585 41551585 + Silent SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr8:41551585G>T ENST00000396942.1 - 29 3446 c.3363C>A c.(3361-3363)ctC>ctA p.L1121L ANK1_ENST00000265709.8_Silent_p.L1162L|ANK1_ENST00000352337.4_Silent_p.L1121L|ANK1_ENST00000396945.1_Silent_p.L1121L|ANK1_ENST00000289734.7_Silent_p.L1121L|ANK1_ENST00000347528.4_Silent_p.L1121L|ANK1_ENST00000379758.2_Silent_p.L1121L P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1121 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GGTTGCCCAGGAGCTTAGTGA 0.622000 7 37 1.26484e-09 1.66095e-09 1 1 0 AASS 10157 broad.mit.edu 37 7 121757012 121757012 + Splice_Site SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr7:121757012C>T ENST00000393376.1 - 6 783 c.e6-1 AASS_ENST00000417368.2_Splice_Site|AASS_ENST00000473553.1_Intron Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) CTTGGGCTCCCTACAAATAAC 0.378000 7 121 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182408 140182408 + Silent SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr5:140182408G>A ENST00000522353.2 + 1 1626 c.1626G>A c.(1624-1626)gtG>gtA p.V542V PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.V542V|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCGGGCGTGCCGCCTCTGG 0.682000 39 153 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126370440 126370440 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr4:126370440G>T ENST00000394329.3 + 9 8282 c.8269G>T c.(8269-8271)Gta>Tta p.V2757L FAT4_ENST00000335110.5_Missense_Mutation_p.V1055L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2757 Cadherin 26. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GAGTACTTCAGTAAAAGTCAT 0.378000 31 147 4.06085e-26 6.81115e-26 1 1 0 ART5 116969 broad.mit.edu 37 11 3660972 3660972 + Silent SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr11:3660972G>T ENST00000397068.3 - 2 1079 c.687C>A c.(685-687)gtC>gtA p.V229V ART5_ENST00000359918.4_Silent_p.V229V|ART5_ENST00000397067.3_Intron NM_053017.3 NP_443750.2 Q96L15 NAR5_HUMAN ADP-ribosyltransferase 5 229 extracellular region NAD(P)+-protein-arginine ADP-ribosyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1) 11 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19) TAACCAAAAAGACTTCATGGG 0.517000 31 134 1.56442e-22 2.53189e-22 1 1 0 HSPA4L 22824 broad.mit.edu 37 4 128719837 128719837 + Silent SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr4:128719837G>A ENST00000296464.3 + 4 813 c.402G>A c.(400-402)aaG>aaA p.K134K HSPA4L_ENST00000508776.1_Silent_p.K134K|HSPA4L_ENST00000505726.1_Silent_p.K108K|HSPA4L_ENST00000439123.2_Silent_p.K165K NM_014278.2 NP_055093.2 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 134 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 ATGCTTTGAAGAAACCAGTGG 0.348000 17 72 0 0 1 0 0 TNRC6B 23112 broad.mit.edu 37 22 40661982 40661982 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr22:40661982G>T ENST00000454349.2 + 5 1959 c.1748G>T c.(1747-1749)aGt>aTt p.S583I TNRC6B_ENST00000335727.8_Missense_Mutation_p.S583I|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 583 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 GCAGGAAGTAGTGACAGTCAT 0.537000 17 107 3.41278e-10 4.52992e-10 1 1 0 AGBL1 123624 broad.mit.edu 37 15 86822927 86822927 + Nonsense_Mutation SNP T T G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr15:86822927T>G ENST00000441037.2 + 15 2090 c.1995T>G c.(1993-1995)taT>taG p.Y665* AGBL1_ENST00000421325.2_Nonsense_Mutation_p.Y665*|AGBL1_ENST00000389298.3_Nonsense_Mutation_p.Y396* NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 665 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 AGTGCTACTATACCCTCACCT 0.498000 56 106 0 0 1 0 0 FAM220A 84792 broad.mit.edu 37 7 6370132 6370132 + Silent SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr7:6370132G>A ENST00000313324.4 - 2 1121 c.654C>T c.(652-654)ccC>ccT p.P218P NM_001037163.1 NP_001032240.1 Q7Z4H9 SIPAR_HUMAN family with sequence similarity 220, member A 218 nucleus TTGAAAACATGGGCTTTAAAC 0.463000 32 155 0 0 1 0 0 DNMT3B 1789 broad.mit.edu 37 20 31390237 31390237 + Missense_Mutation SNP G G C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr20:31390237G>C ENST00000328111.2 + 20 2513 c.2192G>C c.(2191-2193)aGg>aCg p.R731T DNMT3B_ENST00000348286.2_Missense_Mutation_p.R711T|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R711T|DNMT3B_ENST00000443239.3_Missense_Mutation_p.R669T|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R723T|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R711T|DNMT3B_ENST00000456297.2_Missense_Mutation_p.R635T NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 731 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GCTGCTCACAGGGCCCGATAC 0.458000 23 152 0 0 1 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140741263 140741263 + Missense_Mutation SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr5:140741263G>A ENST00000522605.1 + 1 1561 c.1561G>A c.(1561-1563)Gat>Aat p.D521N PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGCCTTCGATCATGAGCA 0.662000 17 66 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2807886 2807886 + Missense_Mutation SNP A A T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr16:2807886A>T ENST00000301740.8 + 4 1004 c.455A>T c.(454-456)gAt>gTt p.D152V NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 152 Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 agctcttttGATCCTCAGCGT 0.478000 18 127 0 0 1 0 0 FAM171A1 221061 broad.mit.edu 37 10 15290695 15290695 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr10:15290695G>T ENST00000378116.4 - 5 703 c.697C>A c.(697-699)Cag>Aag p.Q233K FAM171A1_ENST00000477161.1_5'UTR NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 233 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 AGGCTGCTCTGCGTGGCCAGG 0.597000 31 55 2.85442e-18 4.26429e-18 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25321113 25321113 + RNA SNP A A T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr15:25321113A>T ENST00000549804.2 + 0 1109 SNORD116-11_ENST00000383882.1_RNA TTCCTTGGAAAGTTGAACAAA 0.438000 21 72 0 0 1 0 0 SMAD1 4086 broad.mit.edu 37 4 146475128 146475128 + Missense_Mutation SNP A A G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr4:146475128A>G ENST00000515385.1 + 6 1732 c.1190A>G c.(1189-1191)aAc>aGc p.N397S SMAD1_ENST00000394092.2_Missense_Mutation_p.N397S|SMAD1_ENST00000302085.4_Missense_Mutation_p.N397S Q15797 SMAD1_HUMAN SMAD family member 1 397 MH2. BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway cytosol|integral to membrane|nuclear inner membrane co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 17 all_hematologic(180;0.151) CAGTCTGTGAACCATGGATTT 0.408000 22 147 0 0 1 0 0 TBL1X 6907 broad.mit.edu 37 X 9622317 9622317 + Missense_Mutation SNP A A T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chrX:9622317A>T ENST00000217964.7 + 5 806 c.166A>T c.(166-168)Agt>Tgt p.S56C TBL1X_ENST00000536365.1_Missense_Mutation_p.S5C|TBL1X_ENST00000380961.1_Missense_Mutation_p.S5C|TBL1X_ENST00000407597.2_Missense_Mutation_p.S56C|TBL1X_ENST00000424279.1_Missense_Mutation_p.S5C NM_005647.3 NP_005638.1 O60907 TBL1X_HUMAN transducin (beta)-like 1X-linked 56 LisH. canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2) 20 Hepatocellular(5;0.000888) GAGCATAACCAGTGACGAGGT 0.468000 26 33 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247597576 247597576 + Splice_Site SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:247597576G>T ENST00000366497.2 + 6 3278 c.e6+1 NLRP3_ENST00000348069.2_Splice_Site|NLRP3_ENST00000366496.2_Splice_Site|NLRP3_ENST00000391828.3_Splice_Site|NLRP3_ENST00000336119.3_Splice_Site|NLRP3_ENST00000391827.2_Splice_Site NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 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 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) AGAAGCTCTGGTGAGTCGAGC 0.587000 32 88 6.70999e-13 9.48653e-13 1 1 0 LINC00691 152024 broad.mit.edu 37 3 24138535 24138535 + RNA SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr3:24138535G>T ENST00000436123.1 - 0 2188 ATATGCATTGGCCTTGATCCA 0.453000 3 19 0.115264 0.118475 1 1 0 PHF20 51230 broad.mit.edu 37 20 34435328 34435328 + Silent SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr20:34435328G>T ENST00000374012.3 + 4 441 c.312G>T c.(310-312)ccG>ccT p.P104P PHF20_ENST00000439301.1_Silent_p.P104P|PHF20_ENST00000481202.1_3'UTR Q9BVI0 PHF20_HUMAN PHD finger protein 20 104 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) GTTTTTACCCGGCCAAAGTCA 0.383000 10 70 0.000673444 0.000728741 1 1 0 DHX29 54505 broad.mit.edu 37 5 54557319 54557319 + Silent SNP A A G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr5:54557319A>G ENST00000251636.5 - 25 3985 c.3837T>C c.(3835-3837)taT>taC p.Y1279Y RP11-506H20.1_ENST00000506435.1_RNA NM_019030.2 NP_061903.2 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 1279 ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) ACACTCTGGCATACCTTATCT 0.343000 35 104 0 0 1 0 0 CEP55 55165 broad.mit.edu 37 10 95279445 95279445 + Missense_Mutation SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr10:95279445G>A ENST00000371485.3 + 8 1376 c.1072G>A c.(1072-1074)Gca>Aca p.A358T CEP55_ENST00000496302.1_3'UTR NM_001127182.1|NM_018131.4 NP_001120654.1|NP_060601.3 Q53EZ4 CEP55_HUMAN centrosomal protein 55kDa 358 Required for localization to the interphase centrosome and to the midbody during cytokinesis. cell division|mitosis centriole|cleavage furrow|midbody kidney(1)|large_intestine(5)|lung(6)|stomach(1) 13 Colorectal(252;0.207) CCAGATGCAGGCATGTACTTT 0.388000 26 74 0 0 1 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269424 150269424 + Missense_Mutation SNP T T A rs150127804 TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr7:150269424T>A ENST00000255945.2 + 3 441 c.266T>A c.(265-267)aTt>aAt p.I89N GIMAP4_ENST00000461940.1_Missense_Mutation_p.I103N|GIMAP4_ENST00000494750.1_3'UTR NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 89 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACACCAGGCATTTTCGACACA 0.493000 15 49 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 30937203 30937203 + Nonsense_Mutation SNP T T A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr11:30937203T>A ENST00000597505.1 - 25 3507 c.3508A>T c.(3508-3510)Aga>Tga p.R1170* DCDC1_ENST00000339794.5_Nonsense_Mutation_p.R249*|DCDC1_ENST00000406071.2_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) TGCCCATCTCTGTATTCGAAC 0.453000 8 64 0 0 1 0 0 LRRC59 55379 broad.mit.edu 37 17 48465443 48465443 + Missense_Mutation SNP C C G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr17:48465443C>G ENST00000225972.7 - 5 715 c.480G>C c.(478-480)caG>caC p.Q160H NM_018509.3 NP_060979.2 Q96AG4 LRC59_HUMAN leucine rich repeat containing 59 160 endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 13 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) CCAGCCGCCGCTGCCTCTCCC 0.532000 33 125 0 0 1 0 0 REG1A 5967 broad.mit.edu 37 2 79350029 79350029 + Silent SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:79350029C>A ENST00000233735.1 + 5 487 c.384C>A c.(382-384)gcC>gcA p.A128A NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 128 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 GCATTGGAGCCCCAAGCAGTG 0.572000 20 102 1.33834e-09 1.73279e-09 1 1 0 RYR2 6262 broad.mit.edu 37 1 237823308 237823308 + Silent SNP A A T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:237823308A>T ENST00000366574.2 + 55 8549 c.8232A>T c.(8230-8232)ggA>ggT p.G2744G RYR2_ENST00000360064.6_Silent_p.G2742G|RYR2_ENST00000542537.1_Silent_p.G2728G NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2744 4 X approximate repeats.|Modulator (Potential). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGATTTATGGAGAAATATATT 0.299000 4 29 0 0 1 0 0 CD276 80381 broad.mit.edu 37 15 73994861 73994861 + Silent SNP G G T rs145054349 byFrequency TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr15:73994861G>T ENST00000318443.5 + 3 647 c.345G>T c.(343-345)gcG>gcT p.A115A CD276_ENST00000561213.1_Silent_p.A115A|CD276_ENST00000537340.2_5'UTR|CD276_ENST00000564751.1_Silent_p.A115A|CD276_ENST00000318424.5_Silent_p.A115A NM_001024736.1 NP_001019907.1 Q5ZPR3 CD276_HUMAN CD276 molecule 115 Ig-like V-type 1. cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation external side of plasma membrane|integral to membrane receptor binding endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 13 TGCGTGTGGCGGACGAGGGCA 0.697000 9 23 0.000274275 0.000301213 1 1 0 SPNS3 201305 broad.mit.edu 37 17 4352625 4352625 + Missense_Mutation SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr17:4352625G>A ENST00000355530.2 + 7 1146 c.866G>A c.(865-867)cGc>cAc p.R289H SPNS3_ENST00000333476.2_Missense_Mutation_p.R162H|SPNS3_ENST00000576069.1_Intron NM_182538.4 NP_872344.3 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 (Drosophila) 289 lipid transport|transmembrane transport integral to membrane NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 CTCGAGGCACGCGTGGTTCAC 0.687000 8 83 0 0 1 0 0 DUPD1 338599 broad.mit.edu 37 10 76803619 76803619 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr10:76803619G>T ENST00000338487.5 - 2 356 c.357C>A c.(355-357)ttC>ttA p.F119L NM_001003892.1 NP_001003892.1 Q68J44 DUPD1_HUMAN dual specificity phosphatase and pro isomerase domain containing 1 119 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.F119F(1) breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1) 11 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) CACTGAGGTCGAAGGTGGGCA 0.677000 6 105 0.00198382 0.00212182 1 1 0 FRMD4A 55691 broad.mit.edu 37 10 13852880 13852880 + Missense_Mutation SNP T T G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr10:13852880T>G ENST00000357447.2 - 4 508 c.140A>C c.(139-141)gAc>gCc p.D47A FRMD4A_ENST00000378503.1_Missense_Mutation_p.D47A|FRMD4A_ENST00000358621.4_Missense_Mutation_p.D32A|FRMD4A_ENST00000342409.2_Missense_Mutation_p.D63A NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 47 FERM. cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 AGCCACAAGGTCAAGAAGCTC 0.453000 11 39 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134851892 134851892 + Splice_Site SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr3:134851892G>T ENST00000398015.3 + 5 1667 c.e5+1 EPHB1_ENST00000493838.1_Splice_Site NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding p.?(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 AACCAAGCCGGTAAGTCTGGA 0.567000 4 34 0.014758 0.0152969 1 1 0 KRT39 390792 broad.mit.edu 37 17 39119985 39119985 + Missense_Mutation SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr17:39119985C>T ENST00000355612.2 - 3 637 c.602G>A c.(601-603)gGc>gAc p.G201D AC004231.2_ENST00000418393.1_RNA NM_213656.3 NP_998821.3 Q6A163 K1C39_HUMAN keratin 39 201 Coil 1B.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 17 Breast(137;0.00043)|Ovarian(249;0.15) CTGCTTGAGGCCATTGGCATC 0.502000 32 90 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153910335 153910335 + Missense_Mutation SNP T T A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:153910335T>A ENST00000361217.4 - 14 2388 c.1970A>T c.(1969-1971)cAc>cTc p.H657L NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 657 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) CTGCTCTGGGTGGACCTGGAG 0.557000 30 122 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76461439 76461439 + Missense_Mutation SNP G G A rs143711679 byFrequency TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr16:76461439G>A ENST00000307431.8 + 5 863 c.478G>A c.(478-480)Gaa>Aaa p.E160K CNTNAP4_ENST00000377504.4_Missense_Mutation_p.E160K|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.E136K|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.E164K NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 161 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CATCCCTTTGGAATGGAACCC 0.408000 43 129 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14752854 14752854 + Missense_Mutation SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr18:14752854G>A ENST00000358984.4 + 3 533 c.353G>A c.(352-354)aGg>aAg p.R118K ANKRD30B_ENST00000447268.2_Missense_Mutation_p.R118K|ANKRD30B_ENST00000579292.1_Intron NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 118 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 CAATGCGAGAGGGAGGCTTGT 0.363000 6 37 0 0 1 0 0 PEX26 55670 broad.mit.edu 37 22 18567976 18567976 + Missense_Mutation SNP C C T rs149976406 TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr22:18567976C>T ENST00000329627.6 + 5 972 c.766C>T c.(766-768)Ctc>Ttc p.L256F PEX26_ENST00000399744.3_Missense_Mutation_p.L256F|PEX26_ENST00000428061.2_Intron NM_017929.5 NP_060399.1 Q7Z412 PEX26_HUMAN peroxisomal biogenesis factor 26 256 protein import into peroxisome matrix|protein import into peroxisome membrane integral to peroxisomal membrane protein C-terminus binding|protein complex binding p.L256V(1) breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 CAAAAAGAGTCTCCTGGCTGC 0.547000 7 71 0 0 1 0 0 HCAR3 8843 broad.mit.edu 37 12 123200290 123200290 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr12:123200290G>T ENST00000528880.2 - 1 1149 c.995C>A c.(994-996)aCa>aAa p.T332K HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA NM_006018.2 NP_006009.2 P49019 HCAR3_HUMAN hydroxycarboxylic acid receptor 3 332 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Mepenzolate(DB04843)|Niacin(DB00627) GGGGTCCCCTGTGAGCTCGAC 0.547000 37 82 7.53189e-24 1.24631e-23 1 1 0 OR4D11 219986 broad.mit.edu 37 11 59271549 59271549 + Silent SNP T T A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr11:59271549T>A ENST00000313253.1 + 1 501 c.501T>A c.(499-501)ccT>ccA p.P167P NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 TGCCTCTCCCTTTCTGTGGAC 0.512000 39 224 0 0 1 0 0 OR4D11 219986 broad.mit.edu 37 11 59271597 59271597 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr11:59271597G>T ENST00000313253.1 + 1 549 c.549G>T c.(547-549)caG>caT p.Q183H NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 ATGTCCCCCAGGTCCTCAAAC 0.502000 91 200 3.07327e-39 5.47844e-39 1 1 0 FAP 2191 broad.mit.edu 37 2 163027562 163027562 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:163027562G>T ENST00000188790.4 - 26 2417 c.2210C>A c.(2209-2211)tCc>tAc p.S737Y AC007750.5_ENST00000418968.2_RNA|FAP_ENST00000443424.1_Missense_Mutation_p.S712Y NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 737 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 GGACAGGCCGGATAAGCCGTG 0.433000 42 105 6.07928e-31 1.05814e-30 1 1 0 DPP4 1803 broad.mit.edu 37 2 162873317 162873317 + Missense_Mutation SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:162873317G>A ENST00000360534.3 - 18 2088 c.1528C>T c.(1528-1530)Ccc>Tcc p.P510S DPP4_ENST00000491591.1_5'UTR NM_001935.3 NP_001926.2 P27487 DPP4_HUMAN dipeptidyl-peptidase 4 510 cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) TTTTTGGAGGGCATCTGGACA 0.373000 19 79 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31414949 31414949 + Silent SNP G G C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr16:31414949G>C ENST00000389202.2 + 7 736 c.687G>C c.(685-687)acG>acC p.T229T RP11-120K18.2_ENST00000567545.1_RNA NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 229 VWFA. cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TCACGGCCACGGGCATCCTGA 0.607000 26 86 0 0 1 0 0 OR2A12 346525 broad.mit.edu 37 7 143793096 143793096 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr7:143793096C>A ENST00000408949.2 + 1 956 c.896C>A c.(895-897)gCt>gAt p.A299D NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) GTGAAAGGGGCTCTAAAGAGA 0.453000 83 237 1.32003e-40 2.36453e-40 1 1 0 FAM71A 149647 broad.mit.edu 37 1 212798781 212798781 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:212798781C>A ENST00000294829.3 + 1 993 c.562C>A c.(562-564)Cca>Aca p.P188T RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 188 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) CTGTGGCATTCCAGCTGAAGA 0.527000 53 226 6.60958e-23 1.08397e-22 1 1 0 HGF 3082 broad.mit.edu 37 7 81355323 81355323 + Nonsense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr7:81355323C>A ENST00000222390.5 - 9 1277 c.1051G>T c.(1051-1053)Gaa>Taa p.E351* HGF_ENST00000457544.2_Nonsense_Mutation_p.E346* NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 351 Kringle 3. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 CAGTAATTTTCTCGTAGGTCC 0.413000 32 92 2.85442e-18 4.26429e-18 1 1 0 NGLY1 55768 broad.mit.edu 37 3 25792606 25792606 + Missense_Mutation SNP G G C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr3:25792606G>C ENST00000428257.1 - 4 748 c.641C>G c.(640-642)gCt>gGt p.A214G NGLY1_ENST00000417874.2_Missense_Mutation_p.A172G|NGLY1_ENST00000422724.2_Missense_Mutation_p.A137G|NGLY1_ENST00000280700.5_Missense_Mutation_p.A214G|NGLY1_ENST00000396649.3_Missense_Mutation_p.A214G NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 214 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 CAATTTTCTAGCTCTCGATAA 0.348000 7 31 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 424204 424204 + Nonsense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr3:424204G>T ENST00000256509.2 + 18 2668 c.2026G>T c.(2026-2028)Gag>Tag p.E676* CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Nonsense_Mutation_p.E660* NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 660 Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TGGAAGGTGGGAGGAACTGAC 0.403000 15 118 4.7546e-09 6.02903e-09 1 1 0 OR2C3 81472 broad.mit.edu 37 1 247694974 247694974 + Silent SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:247694974G>T ENST00000366487.3 - 2 1201 c.840C>A c.(838-840)acC>acA p.T280T GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366489.1_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T279T(1) breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) GAGTGACTACGGTGTAGAACA 0.532000 12 138 0.010729 0.0112472 1 1 0 SNX20 124460 broad.mit.edu 37 16 50707434 50707434 + Silent SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr16:50707434G>A ENST00000330943.4 - 4 1005 c.834C>T c.(832-834)taC>taT p.Y278Y SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron NM_182854.2 NP_878274.1 Q7Z614 SNX20_HUMAN sorting nexin 20 278 cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1) 15 TGCCCAGCGCGTAGGCCAGGC 0.697000 23 46 0 0 1 0 0 VGLL3 389136 broad.mit.edu 37 3 87017926 87017926 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr3:87017926C>A ENST00000398399.2 - 3 1114 c.751G>T c.(751-753)Gct>Tct p.A251S VGLL3_ENST00000383698.3_Missense_Mutation_p.A251S NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) GCAGAGCCAGCAGGAGggtgg 0.587000 11 55 3.07112e-06 3.56365e-06 1 1 0 USP26 83844 broad.mit.edu 37 X 132159518 132159518 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chrX:132159518G>T ENST00000511190.1 - 6 3200 c.2731C>A c.(2731-2733)Cag>Aag p.Q911K USP26_ENST00000370832.1_Missense_Mutation_p.Q911K|USP26_ENST00000406273.1_Missense_Mutation_p.Q911K NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 911 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) TATTCCTTCTGAAGGGTCTCC 0.428000 27 22 4.22769e-11 5.77785e-11 1 1 0 MYF6 4618 broad.mit.edu 37 12 81101501 81101501 + Translation_Start_Site SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr12:81101501G>T ENST00000228641.3 + 1 225 c.3G>T c.(1-3)atG>atT p.M1I NM_002469.2 NP_002460.1 P23409 MYF6_HUMAN myogenic factor 6 (herculin) 1 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 AGGAGAACATGATGATGGACC 0.453000 24 95 4.26978e-12 5.96798e-12 1 1 0 KCNK13 56659 broad.mit.edu 37 14 90650454 90650454 + Splice_Site SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr14:90650454G>A ENST00000282146.4 + 2 775 c.e2-1 NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) CTCTCCTGCAGGGTTTGGGAT 0.458000 23 97 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127664342 127664342 + Missense_Mutation SNP T T C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr5:127664342T>C ENST00000508989.1 - 33 4635 c.4418A>G c.(4417-4419)cAg>cGg p.Q1473R FBN2_ENST00000508053.1_Intron|FBN2_ENST00000262464.4_Intron|FBN2_ENST00000507835.1_Missense_Mutation_p.Q356R P35556 FBN2_HUMAN fibrillin 2 0 EGF-like 24; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TTTCATTTACTGTGGTTGATC 0.478000 5 29 0 0 1 0 0 ILDR2 387597 broad.mit.edu 37 1 166904536 166904536 + Splice_Site SNP A A G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:166904536A>G ENST00000271417.3 - 6 936 c.e6+1 ILDR2_ENST00000469934.2_Splice_Site|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000529071.1_Splice_Site|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000529387.1_Intron NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 AACTACATTTACCACTGTGGC 0.542000 41 98 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114290868 114290868 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr4:114290868C>A ENST00000357077.4 + 43 11570 c.11517C>A c.(11515-11517)agC>agA p.S3839R ANK2_ENST00000506722.1_Missense_Mutation_p.S1745R|ANK2_ENST00000264366.6_Missense_Mutation_p.S3806R|ANK2_ENST00000509550.1_Missense_Mutation_p.S930R|ANK2_ENST00000510275.2_Missense_Mutation_p.S406R|ANK2_ENST00000394537.3_Missense_Mutation_p.S1754R NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3806 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GAGAGGAGAGCTCTCCGCGGA 0.542000 24 76 2.21704e-12 3.12247e-12 1 1 0 NAV2 89797 broad.mit.edu 37 11 20075694 20075694 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr11:20075694G>T ENST00000396085.1 + 18 4911 c.4550G>T c.(4549-4551)gGa>gTa p.G1517V NAV2_ENST00000533917.1_Missense_Mutation_p.G581V|NAV2_ENST00000540292.1_Missense_Mutation_p.G1471V|NAV2_ENST00000360655.4_Missense_Mutation_p.G1453V|NAV2_ENST00000349880.4_Missense_Mutation_p.G1517V|NAV2_ENST00000311043.8_Missense_Mutation_p.G581V|NAV2_ENST00000396087.3_Missense_Mutation_p.G1540V|NAV2_ENST00000527559.2_Missense_Mutation_p.G1469V NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1540 Ser-rich. nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CATTCTGCAGGAGGCCTTCAG 0.522000 12 37 0.0135373 0.0141509 1 1 0 GRK7 131890 broad.mit.edu 37 3 141497490 141497490 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr3:141497490C>A ENST00000264952.2 + 1 501 c.364C>A c.(364-366)Ccg>Acg p.P122T NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 122 RGS. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 CCCGGGGAACCCGCAACCCTT 0.677000 17 44 1.5739e-10 2.11959e-10 1 1 0 KAZN 23254 broad.mit.edu 37 1 15440972 15440972 + Silent SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:15440972C>A ENST00000376030.2 + 15 2463 c.2169C>A c.(2167-2169)ccC>ccA p.P723P NM_201628.2 NP_963922.2 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein 723 keratinization cornified envelope|cytoplasm|desmosome|nucleus central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 CTCAGCTGCCCCTGGGGAAGA 0.453000 4 15 3.59834e-05 4.03582e-05 1 1 0 DVL3 1857 broad.mit.edu 37 3 183884013 183884013 + Missense_Mutation SNP C C G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr3:183884013C>G ENST00000313143.3 + 8 1111 c.863C>G c.(862-864)gCt>gGt p.A288G DVL3_ENST00000431765.1_Missense_Mutation_p.A288G|EIF2B5_ENST00000444495.1_Intron NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 288 PDZ. canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) GGGGCCGTGGCTGCTGATGGA 0.542000 11 106 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8518386 8518386 + Silent SNP T T A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr9:8518386T>A ENST00000381196.4 - 18 1548 c.1005A>T c.(1003-1005)acA>acT p.T335T PTPRD_ENST00000540109.1_Silent_p.T335T|PTPRD_ENST00000360074.4_Silent_p.T322T|PTPRD_ENST00000537002.1_Silent_p.T332T|PTPRD_ENST00000358503.5_Silent_p.T322T|PTPRD_ENST00000486161.1_Silent_p.T335T|PTPRD_ENST00000356435.5_Silent_p.T335T|PTPRD_ENST00000355233.5_Silent_p.T335T|PTPRD_ENST00000397606.3_Silent_p.T325T|PTPRD_ENST00000397611.3_Silent_p.T332T|PTPRD_ENST00000397617.3_Silent_p.T325T NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 335 Fibronectin type-III 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TGCTTGTAGCTGTGCTCTCGG 0.433000 TSP Lung(15;0.13) 34 94 0 0 1 0 0 BST2 684 broad.mit.edu 37 19 17516358 17516358 + Nonsense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr19:17516358G>T ENST00000252593.6 - 1 99 c.27C>A c.(25-27)tgC>tgA p.C9* NM_004335.2 NP_004326.1 Q10589 BST2_HUMAN bone marrow stromal cell antigen 2 9 B cell activation|cell proliferation|cell-cell signaling|defense response to virus|humoral immune response|innate immune response|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade anchored to membrane|Golgi apparatus|integral to plasma membrane|late endosome protein homodimerization activity|signal transducer activity endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2) 9 TGGGCACTCTGCAATAGTCAT 0.522000 28 71 3.65163e-15 5.30492e-15 1 1 0 DCSTAMP 81501 broad.mit.edu 37 8 105368406 105368406 + Missense_Mutation SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr8:105368406G>A ENST00000297581.2 + 4 1442 c.1393G>A c.(1393-1395)Gca>Aca p.A465T DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR|DCSTAMP_ENST00000517991.1_3'UTR NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 465 osteoclast differentiation cell surface|integral to membrane|plasma membrane AATGGACATGGCAAGTGCAGA 0.463000 6 42 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41061673 41061673 + Splice_Site SNP T T A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr5:41061673T>A ENST00000399564.4 - 6 1064 c.615_splice c.e6+1 p.Q205_splice NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CCCACTCACCTGCATGGGTGA 0.478000 42 194 0 0 1 0 0 OR9A2 135924 broad.mit.edu 37 7 142723793 142723793 + Missense_Mutation SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr7:142723793C>T ENST00000350513.2 - 1 489 c.427G>A c.(427-429)Gtg>Atg p.V143M NM_001001658.1 NP_001001658.1 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, member 2 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) ACCCATGACACTATTACCACC 0.408000 16 127 0 0 1 0 0 PARP1 142 broad.mit.edu 37 1 226553694 226553694 + Silent SNP A A G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:226553694A>G ENST00000366794.5 - 18 2609 c.2466T>C c.(2464-2466)caT>caC p.H822H PARP1_ENST00000490921.1_5'UTR NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 822 PARP catalytic. cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) GTGTGGTTGCATGAGTGTTCT 0.473000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 13 94 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32190534 32190534 + Nonsense_Mutation SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr6:32190534G>A ENST00000375023.3 - 3 343 c.205C>T c.(205-207)Cag>Tag p.Q69* NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 69 EGF-like 2. 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 TGGGCGTTCTGGCAGGGGTCA 0.612000 12 53 0 0 1 0 0 MBL2 4153 broad.mit.edu 37 10 54527930 54527930 + Silent SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr10:54527930G>T ENST00000373968.3 - 4 778 c.714C>A c.(712-714)acC>acA p.T238T NM_000242.2 NP_000233.1 P11226 MBL2_HUMAN mannose-binding lectin (protein C) 2, soluble 238 C-type lectin. acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 CCAGATGGGAGGTGGAGCAGG 0.498000 18 321 3.41278e-10 4.52992e-10 1 1 0 REG3A 5068 broad.mit.edu 37 2 79384799 79384799 + Missense_Mutation SNP C C G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:79384799C>G ENST00000393878.1 - 4 613 c.359G>C c.(358-360)tGg>tCg p.W120S REG3A_ENST00000305165.2_Missense_Mutation_p.W120S|REG3A_ENST00000409839.3_Missense_Mutation_p.W120S NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 120 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 ACTCCACTCCCAACCTTCTCC 0.552000 30 105 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21069101 21069101 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr12:21069101G>T ENST00000381545.3 + 16 2248 c.2029G>T c.(2029-2031)Ggt>Tgt p.G677C LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G677C|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 677 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) CTTAAATAATGGTGAACATTT 0.333000 11 66 0.0692343 0.0715615 1 1 0 C1orf106 55765 broad.mit.edu 37 1 200860813 200860813 + Silent SNP A A C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:200860813A>C ENST00000367342.4 + 1 345 c.145A>C c.(145-147)Aga>Cga p.R49R NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 49 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 GGGCGGCGCCAGAGCTCCATG 0.687000 5 12 0 0 1 0 0 PPFIA1 8500 broad.mit.edu 37 11 70201823 70201823 + Silent SNP A A G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr11:70201823A>G ENST00000253925.7 + 18 2609 c.2394A>G c.(2392-2394)ccA>ccG p.P798P AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.P798P NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 798 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) ACAAAGCCCCAAAGAAGAAAG 0.527000 45 57 0 0 1 0 0 CORIN 10699 broad.mit.edu 37 4 47746535 47746535 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr4:47746535C>A ENST00000273857.4 - 5 682 c.683G>T c.(682-684)gGg>gTg p.G228V CORIN_ENST00000505909.1_Missense_Mutation_p.G228V|CORIN_ENST00000504584.1_Missense_Mutation_p.G228V|CORIN_ENST00000502252.1_Missense_Mutation_p.G161V|CORIN_ENST00000508498.1_Missense_Mutation_p.G89V NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 228 FZ 1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 ATTCACCATCCCCAGGACTGA 0.453000 61 187 1.1362e-29 1.96834e-29 1 1 0 PDGFRB 5159 broad.mit.edu 37 5 149515136 149515136 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr5:149515136G>T ENST00000261799.4 - 3 815 c.346C>A c.(346-348)Ctc>Atc p.L116I NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 116 Ig-like C2-type 1. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) AAGATGTAGAGCCGTTTCCGC 0.562000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 48 156 5.13769e-22 8.24264e-22 1 1 0 ZNF536 9745 broad.mit.edu 37 19 31038849 31038849 + Splice_Site SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr19:31038849G>A ENST00000355537.3 + 4 2470 c.e4-1 NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) AAATCTTGCAGGTGAGAAACC 0.463000 22 104 0 0 1 0 0 CLEC4F 165530 broad.mit.edu 37 2 71043328 71043328 + Missense_Mutation SNP T T G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:71043328T>G ENST00000272367.2 - 4 1261 c.1185A>C c.(1183-1185)caA>caC p.Q395H CLEC4F_ENST00000426626.1_Missense_Mutation_p.Q395H NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 395 endocytosis integral to membrane receptor activity|sugar binding endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 TCTTCATTCCTTGTTTTAGGG 0.438000 13 93 0 0 1 0 0 USP43 124739 broad.mit.edu 37 17 9613325 9613325 + Silent SNP G G C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr17:9613325G>C ENST00000570827.2 + 13 2205 c.1131G>C c.(1129-1131)acG>acC p.T377T USP43_ENST00000285199.6_Silent_p.T688T|USP43_ENST00000570475.1_Silent_p.T683T Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 688 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 ATGACAGCACGGTGGAACCGC 0.542000 15 42 0 0 1 0 0 LGMN 5641 broad.mit.edu 37 14 93199083 93199083 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr14:93199083C>A ENST00000393218.2 - 3 386 c.49G>T c.(49-51)Gcc>Tcc p.A17S LGMN_ENST00000334869.4_Missense_Mutation_p.A17S|LGMN_ENST00000555699.1_Missense_Mutation_p.A17S|LGMN_ENST00000557434.1_Missense_Mutation_p.A17S NM_001008530.2 NP_001008530.1 Q99538 LGMN_HUMAN legumain 17 hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process lysosome cysteine-type endopeptidase activity|protein serine/threonine kinase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2) 18 all_cancers(154;0.0706) COAD - Colon adenocarcinoma(157;0.224) ATAGGAACGGCACCAATGCCC 0.483000 29 134 2.4375e-19 3.71668e-19 1 1 0 CBFA2T3 863 broad.mit.edu 37 16 88958857 88958857 + Missense_Mutation SNP T T C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr16:88958857T>C ENST00000268679.4 - 4 812 c.416A>G c.(415-417)aAt>aGt p.N139S CBFA2T3_ENST00000436887.2_Missense_Mutation_p.N114S|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.N53S|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.N53S|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.N63S NM_005187.5 NP_005178.4 O75081 MTG16_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 3 139 Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0275) CGGTGCACCATTGATGGCTGT 0.637000 T RUNX1 AML 19 77 0 0 1 0 0 ZP4 57829 broad.mit.edu 37 1 238050678 238050678 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:238050678C>A ENST00000366570.4 - 5 895 c.737G>T c.(736-738)aGa>aTa p.R246I RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 246 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GCTCACCTGTCTTGTGGTGCC 0.507000 47 102 2.81731e-22 4.53968e-22 1 1 0 ARID1B 57492 broad.mit.edu 37 6 157522483 157522483 + Silent SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr6:157522483C>T ENST00000346085.5 + 18 4756 c.4755C>T c.(4753-4755)ccC>ccT p.P1585P ARID1B_ENST00000275248.4_Silent_p.P1567P|ARID1B_ENST00000367148.1_Silent_p.P1625P|ARID1B_ENST00000350026.5_Silent_p.P1572P NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1572 Pro-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) AGGTCATGCCCACGGTCCCCA 0.602000 22 158 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21263906 21263906 + Missense_Mutation SNP T T C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:21263906T>C ENST00000233242.1 - 4 414 c.287A>G c.(286-288)cAg>cGg p.Q96R APOB_ENST00000399256.4_Missense_Mutation_p.Q96R NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 96 Heparin-binding.|Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CAGGGTGCACTGGCTGGTCTT 0.512000 10 58 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167097487 167097487 + Missense_Mutation SNP A A G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:167097487A>G ENST00000361200.2 + 6 3285 c.3119A>G c.(3118-3120)tAc>tGc p.Y1040C DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.Y1040C|DUSP27_ENST00000271385.5_Missense_Mutation_p.Y1040C Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 1040 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CCAGAGCCCTACTTCTTCCGC 0.582000 21 66 0 0 1 0 0 CALB2 794 broad.mit.edu 37 16 71411575 71411575 + Silent SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr16:71411575G>T ENST00000302628.4 + 4 344 c.267G>T c.(265-267)gcG>gcT p.A89A CALB2_ENST00000349553.5_Silent_p.A89A NM_001740.4 NP_001731.2 P22676 CALB2_HUMAN calbindin 2 89 EF-hand 2. calcium ion binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(137;0.125) CACAGCTGGCGCAGATCCTGC 0.552000 24 77 5.45024e-15 7.85601e-15 1 1 0 KCNIP4 80333 broad.mit.edu 37 4 20852205 20852205 + Silent SNP G G C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr4:20852205G>C ENST00000382148.3 - 2 510 c.174C>G c.(172-174)acC>acG p.T58T KCNIP4_ENST00000382152.2_Silent_p.T83T|KCNIP4_ENST00000382150.4_Silent_p.T62T|KCNIP4_ENST00000509207.1_Silent_p.T21T|KCNIP4_ENST00000447367.2_Silent_p.T49T|KCNIP4_ENST00000359001.5_Silent_p.T21T|KCNIP4_ENST00000382149.4_5'UTR NM_001035003.1 NP_001030175.1 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 83 plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) GCTCTTTCTTGGTAAATTTGC 0.453000 29 95 0 0 1 0 0 KRTAP9-9 81870 broad.mit.edu 37 17 39411800 39411800 + Missense_Mutation SNP A A G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr17:39411800A>G ENST00000394008.1 + 1 165 c.163A>G c.(163-165)Acc>Gcc p.T55A NM_030975.2 NP_112237.2 B5MDD6 B5MDD6_HUMAN keratin associated protein 9-9 55 keratin filament endometrium(3)|skin(2)|upper_aerodigestive_tract(1) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CTGTCAAAACACCTGCTGCAG 0.642000 16 77 0 0 1 0 0 MTUS1 57509 broad.mit.edu 37 8 17601240 17601240 + Missense_Mutation SNP C C G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr8:17601240C>G ENST00000381869.3 - 3 2633 c.2160G>C c.(2158-2160)agG>agC p.R720S MTUS1_ENST00000519263.1_Missense_Mutation_p.R720S|MTUS1_ENST00000381862.3_Missense_Mutation_p.R720S|MTUS1_ENST00000262102.6_Missense_Mutation_p.R720S NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 720 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) CAGCTATTTGCCTCAAACCGC 0.483000 21 93 0 0 1 0 0 PRAMEF6 440561 broad.mit.edu 37 1 13001277 13001277 + Missense_Mutation SNP G G T rs139593649 TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:13001277G>T ENST00000376189.1 - 3 505 c.406C>A c.(406-408)Cag>Aag p.Q136K PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Missense_Mutation_p.Q136K NM_001010889.2 NP_001010889.1 Q5VXH4 PRAM6_HUMAN PRAME family member 6 136 NS(1)|kidney(1)|lung(5)|urinary_tract(2) 9 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGACAGTCCTGCACTGGTGTT 0.507000 116 897 4.82855e-46 8.6914e-46 1 1 0 SVEP1 79987 broad.mit.edu 37 9 113169428 113169428 + Missense_Mutation SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr9:113169428C>T ENST00000401783.2 - 38 8788 c.8452G>A c.(8452-8454)Gac>Aac p.D2818N SVEP1_ENST00000374469.1_Missense_Mutation_p.D2795N|SVEP1_ENST00000297826.5_Missense_Mutation_p.D744N NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2818 Sushi 23. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CAGTTTTTGTCATCCTGGCAT 0.502000 45 158 0 0 1 0 0 GALNT5 11227 broad.mit.edu 37 2 158157473 158157473 + Missense_Mutation SNP C C G rs141104683 TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:158157473C>G ENST00000259056.4 + 7 2886 c.2401C>G c.(2401-2403)Cct>Gct p.P801A GALNT5_ENST00000463418.1_3'UTR NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 801 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 GAATGTCTTTCCTGACTTAAG 0.418000 16 56 0 0 1 0 0 PIGN 23556 broad.mit.edu 37 18 59757811 59757811 + Splice_Site SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr18:59757811C>T ENST00000357637.5 - 24 2596 c.2180_splice c.e24-1 p.G727_splice PIGN_ENST00000400334.3_Splice_Site_p.G727_splice NM_176787.4 NP_789744.1 O95427 PIGN_HUMAN phosphatidylinositol glycan anchor biosynthesis, class N 727 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphotransferase activity, for other substituted phosphate groups breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(73;0.187) GAGCTTCATACCTAACAGGTG 0.318000 5 20 0 0 1 0 0 GLIPR1L2 144321 broad.mit.edu 37 12 75804383 75804383 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr12:75804383G>T ENST00000550916.1 + 2 451 c.404G>T c.(403-405)aGa>aTa p.R135I GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.R28I|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.R70I|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.R135I|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.R135I|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.R135I NM_001270396.1 NP_001257325.1 Q4G1C9 GRPL2_HUMAN GLI pathogenesis-related 1 like 2 135 integral to membrane kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 ATTGCTATCAGAAGTTGGCAT 0.323000 26 100 5.45024e-15 7.85601e-15 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113651026 113651026 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr8:113651026G>T ENST00000297405.5 - 21 3669 c.3425C>A c.(3424-3426)cCt>cAt p.P1142H CSMD3_ENST00000343508.3_Missense_Mutation_p.P1102H|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1038H|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1142H NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1142 CUB 6. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GATTGTTGGAGGAAGATCTGA 0.393000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 13 73 0.000308642 0.000337949 1 1 0 STK11 6794 broad.mit.edu 37 19 1220649 1220649 + Nonsense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr19:1220649G>T ENST00000326873.7 + 5 1840 c.667G>T c.(667-669)Gag>Tag p.E223* NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 223 Protein kinase. E -> V (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39). anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(2)|p.E223*(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGCCGCCCGAGATTGCCAA 0.697000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 14 13 0.000219431 0.000243886 1 1 0 GPR112 139378 broad.mit.edu 37 X 135453630 135453630 + Missense_Mutation SNP A A T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chrX:135453630A>T ENST00000394143.1 + 14 7831 c.7540A>T c.(7540-7542)Atg>Ttg p.M2514L GPR112_ENST00000287534.4_Missense_Mutation_p.M2312L|GPR112_ENST00000394141.1_Missense_Mutation_p.M2309L|GPR112_ENST00000370652.1_Missense_Mutation_p.M2514L|GPR112_ENST00000412101.1_Missense_Mutation_p.M2309L NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2514 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AACTCATGTTATGTTACAAAT 0.338000 10 38 0 0 1 0 0 AURKC 6795 broad.mit.edu 37 19 57746747 57746747 + Nonsense_Mutation SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr19:57746747C>T ENST00000302804.7 + 7 1078 c.892C>T c.(892-894)Cga>Tga p.R298* AURKC_ENST00000448930.1_Nonsense_Mutation_p.R264*|AURKC_ENST00000415300.2_Nonsense_Mutation_p.R279*|AURKC_ENST00000598785.1_Nonsense_Mutation_p.R264*|AURKC_ENST00000599062.1_Nonsense_Mutation_p.R295* NM_001015878.1 NP_001015878.1 Q9UQB9 AURKC_HUMAN aurora kinase C 298 cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) GGCCCACTCCCGAAGGGTGCT 0.622000 6 103 0 0 1 0 0 TRBV19 28568 broad.mit.edu 37 7 142326934 142326934 + RNA SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr7:142326934G>T ENST00000390393.3 + 0 440 TCAGAAAGGAGATATAGCTGA 0.483000 36 198 4.65686e-17 6.92896e-17 1 1 0 KMT2D 8085 broad.mit.edu 37 12 49446173 49446173 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr12:49446173C>A ENST00000301067.7 - 10 1292 c.1293G>T c.(1291-1293)gaG>gaT p.E431D NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TTAGGGGGGCCTCCAACTGGG 0.592000 10 34 1.58986e-06 1.86834e-06 1 1 0 ULK4 54986 broad.mit.edu 37 3 41973472 41973472 + Silent SNP C C G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr3:41973472C>G ENST00000301831.4 - 5 867 c.405G>C c.(403-405)ctG>ctC p.L135L ULK4_ENST00000420927.1_Silent_p.L135L NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 135 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) TGCTAAACTTCAGTGTGCCAG 0.368000 31 114 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103149117 103149117 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:103149117G>T ENST00000295269.4 + 12 2824 c.2367G>T c.(2365-2367)agG>agT p.R789S NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 789 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 ACCATCACAGGTCCCATAGTC 0.493000 6 39 0.00307968 0.00327493 1 1 0 CHST6 4166 broad.mit.edu 37 16 75513129 75513129 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr16:75513129G>T ENST00000332272.4 - 3 777 c.598C>A c.(598-600)Ctg>Atg p.L200M CHST6_ENST00000390664.2_Missense_Mutation_p.L200M|RP11-77K12.4_ENST00000530512.3_RNA NM_021615.4 NP_067628.1 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 200 L -> R (in MCD; dbSNP:rs28937879). keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TCGCGCACCAGGTGCACGATG 0.677000 18 49 8.10497e-08 9.83794e-08 1 1 0 NLRP3 114548 broad.mit.edu 37 1 247587673 247587673 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:247587673G>T ENST00000366497.2 + 4 1708 c.928G>T c.(928-930)Gcc>Tcc p.A310S NLRP3_ENST00000348069.2_Missense_Mutation_p.A310S|NLRP3_ENST00000366496.2_Missense_Mutation_p.A310S|NLRP3_ENST00000391828.3_Missense_Mutation_p.A310S|NLRP3_ENST00000336119.3_Missense_Mutation_p.A310S|NLRP3_ENST00000391827.2_Missense_Mutation_p.A310S|NLRP3_ENST00000474792.1_3'UTR NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 310 NACHT. 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 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) GCTGCAAGGTGCCTTTGACGA 0.572000 43 116 3.54909e-21 5.5258e-21 1 1 0 MUC17 140453 broad.mit.edu 37 7 100677445 100677445 + Silent SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr7:100677445C>T ENST00000306151.4 + 3 2812 c.2748C>T c.(2746-2748)acC>acT p.T916T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 916 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCATGCCAACCTCAACTCCTG 0.512000 29 664 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52488588 52488588 + Missense_Mutation SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr15:52488588G>A ENST00000261839.7 - 39 5074 c.4913C>T c.(4912-4914)gCc>gTc p.A1638V RP11-430B1.2_ENST00000560518.1_lincRNA NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 1638 Dilute. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) AAGCAACCAGGCTGCCTGAGA 0.502000 5 62 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10428288 10428288 + Missense_Mutation SNP T T C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr17:10428288T>C ENST00000245503.5 - 34 5141 c.4757A>G c.(4756-4758)gAt>gGt p.D1586G MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.D1586G|CTC-297N7.7_ENST00000399342.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1586 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 AATTTCCTCATCTTTTTCAGC 0.448000 38 159 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41587902 41587902 + Missense_Mutation SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr12:41587902C>T ENST00000402685.2 + 3 763 c.755C>T c.(754-756)tCg>tTg p.S252L NM_001164595.1 NP_001158067.1 Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 252 PDZ 1. 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) GAAGGAACATCGACTGAAGGA 0.318000 14 37 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230679845 230679845 + Silent SNP T T A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:230679845T>A ENST00000283943.5 - 10 1735 c.1557A>T c.(1555-1557)gtA>gtT p.V519V TRIP12_ENST00000389044.4_Silent_p.V567V|TRIP12_ENST00000389045.3_Silent_p.V222V|TRIP12_ENST00000543084.1_Intron NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 519 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TAGCATCTACTACAACAGCAG 0.373000 40 221 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131188650 131188650 + Missense_Mutation SNP T T A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr6:131188650T>A ENST00000337057.3 - 16 2860 c.2679A>T c.(2677-2679)gaA>gaT p.E893D EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000445890.2_Missense_Mutation_p.E635D|EPB41L2_ENST00000528282.1_Missense_Mutation_p.E635D|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E893D|EPB41L2_ENST00000530757.1_Missense_Mutation_p.E122D|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.E271D|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.E823D|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E823D|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E740D NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 893 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CAATGGGGACTTCCTTGGTGG 0.433000 21 133 0 0 1 0 0 NTNG1 22854 broad.mit.edu 37 1 107961207 107961207 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:107961207C>A ENST00000370067.1 + 6 1720 c.1093C>A c.(1093-1095)Cca>Aca p.P365T NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370066.1_Missense_Mutation_p.P365T|NTNG1_ENST00000370068.1_Intron|NTNG1_ENST00000370061.3_Missense_Mutation_p.P365T|NTNG1_ENST00000370070.2_Missense_Mutation_p.P365T|NTNG1_ENST00000370071.2_Missense_Mutation_p.P365T|NTNG1_ENST00000370073.2_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000542803.1_Intron Q9Y2I2 NTNG1_HUMAN netrin G1 365 Laminin EGF-like 2. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) TGCAGATCCTCCAAAGTTTAA 0.368000 4 13 0.00909568 0.00956213 1 1 0 LPO 4025 broad.mit.edu 37 17 56344885 56344885 + Silent SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr17:56344885G>T ENST00000262290.4 + 12 2185 c.1869G>T c.(1867-1869)cgG>cgT p.R623R LPO_ENST00000543544.1_Silent_p.R564R|LPO_ENST00000421678.2_Silent_p.R540R|LPO_ENST00000582328.1_Silent_p.R540R NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 623 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 AAAGGGGTCGGGTGGGGCCTC 0.622000 15 56 0.479597 0.4809 1 1 0 LRRTM4 80059 broad.mit.edu 37 2 77746674 77746674 + Silent SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:77746674C>A ENST00000409088.3 - 3 735 c.321G>T c.(319-321)ggG>ggT p.G107G LRRTM4_ENST00000409093.1_Silent_p.G107G|LRRTM4_ENST00000409282.1_Silent_p.G108G|LRRTM4_ENST00000409884.1_Silent_p.G107G|LRRTM4_ENST00000409911.1_Silent_p.G108G NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 107 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) GTCTACGGATCCCTTGAAATG 0.393000 22 70 2.98393e-07 3.57491e-07 1 1 0 CHDC2 286464 broad.mit.edu 37 X 36091481 36091481 + Splice_Site SNP G G C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chrX:36091481G>C ENST00000378660.1 + 4 604 c.416_splice c.e4+1 p.R139_splice CHDC2_ENST00000313548.4_Splice_Site_p.R139_splice calponin homology domain containing 2 ACTATAAGAAGGTGAGAGTCC 0.343000 30 46 0 0 1 0 0 THBS4 7060 broad.mit.edu 37 5 79375746 79375746 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr5:79375746G>T ENST00000350881.2 + 20 2720 c.2530G>T c.(2530-2532)Ggt>Tgt p.G844C THBS4_ENST00000511733.1_Missense_Mutation_p.G753C|THBS4_ENST00000504720.1_3'UTR|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 844 TSP C-terminal. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GTCTAAGACAGGTCCAGGGGA 0.567000 17 75 1.33834e-09 1.73279e-09 1 1 0 MACF1 23499 broad.mit.edu 37 1 39812877 39812877 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:39812877G>T ENST00000564288.1 + 41 11587 c.10810G>T c.(10810-10812)Gtg>Ttg p.V3604L MACF1_ENST00000567887.1_Missense_Mutation_p.V3641L|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.V2044L|MACF1_ENST00000372915.3_Missense_Mutation_p.V3609L|MACF1_ENST00000545844.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 3609 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGAAGCCCTGGTGAAGGTCAG 0.522000 7 34 0.248553 0.249907 1 1 0 NCKAP5L 57701 broad.mit.edu 37 12 50190322 50190322 + Missense_Mutation SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr12:50190322G>A ENST00000335999.6 - 8 1522 c.1321C>T c.(1321-1323)Cct>Tct p.P441S NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 437 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 GCTTCCCCAGGAGAAGGGGGG 0.617000 7 33 0 0 1 0 0 CYTIP 9595 broad.mit.edu 37 2 158272292 158272292 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:158272292C>A ENST00000264192.3 - 8 1098 c.977G>T c.(976-978)gGg>gTg p.G326V CYTIP_ENST00000540637.1_Missense_Mutation_p.G220V NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 326 regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 GGGCAGGGTCCCAAACATGCT 0.512000 17 93 2.35188e-11 3.26257e-11 1 1 0 FAM83B 222584 broad.mit.edu 37 6 54804555 54804555 + Silent SNP A A T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr6:54804555A>T ENST00000306858.7 + 5 902 c.786A>T c.(784-786)acA>acT p.T262T NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 262 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AGATAATTACAGGACAACTTG 0.363000 17 101 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8341179 8341179 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr9:8341179C>A ENST00000381196.4 - 38 5580 c.5037G>T c.(5035-5037)atG>atT p.M1679I PTPRD_ENST00000540109.1_Missense_Mutation_p.M1679I|PTPRD_ENST00000360074.4_Missense_Mutation_p.M1666I|PTPRD_ENST00000397617.3_Missense_Mutation_p.M1272I|PTPRD_ENST00000537002.1_Missense_Mutation_p.M1269I|PTPRD_ENST00000358503.5_Missense_Mutation_p.M1657I|PTPRD_ENST00000486161.1_Missense_Mutation_p.M1272I|PTPRD_ENST00000356435.5_Missense_Mutation_p.M1679I|PTPRD_ENST00000355233.5_Missense_Mutation_p.M1273I|PTPRD_ENST00000397606.3_Missense_Mutation_p.M1272I|PTPRD_ENST00000397611.3_Missense_Mutation_p.M1269I NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1679 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) ATTCATATGGCATAATATTAA 0.398000 TSP Lung(15;0.13) 53 170 5.22555e-25 8.68572e-25 1 1 0 ORAI1 84876 broad.mit.edu 37 12 122079143 122079143 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr12:122079143G>T ENST00000330079.7 + 2 699 c.506G>T c.(505-507)cGc>cTc p.R169L NM_032790.3 NP_116179.2 Q96D31 CRCM1_HUMAN ORAI calcium release-activated calcium modulator 1 167 platelet activation|positive regulation of calcium ion transport integral to plasma membrane protein binding|store-operated calcium channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 11 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148) CCCCATGAGCGCATGCACCGC 0.602000 4 56 0.150653 0.153567 1 1 0 PLD1 5337 broad.mit.edu 37 3 171406513 171406513 + Missense_Mutation SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr3:171406513C>T ENST00000356327.5 - 14 1562 c.1492G>A c.(1492-1494)Ggc>Agc p.G498S PLD1_ENST00000340989.4_Missense_Mutation_p.G498S|PLD1_ENST00000351298.4_Missense_Mutation_p.G498S|PLD1_ENST00000342215.6_Missense_Mutation_p.G498S NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 498 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) TTCACACTGCCCACGTCTGTG 0.473000 17 72 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11520888 11520888 + Silent SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr17:11520888G>T ENST00000262442.3 + 5 1133 c.1065G>T c.(1063-1065)ccG>ccT p.P355P DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Silent_p.P355P NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 355 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ACCGCTCCCCGGGAAGGCTGA 0.622000 20 63 2.89027e-11 3.96472e-11 1 1 0 RSPO3 84870 broad.mit.edu 37 6 127471622 127471622 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr6:127471622G>T ENST00000356698.4 + 3 930 c.341G>T c.(340-342)tGt>tTt p.C114F RSPO3_ENST00000368317.3_Missense_Mutation_p.C114F|RSPO3_ENST00000485757.1_3'UTR NM_032784.3 NP_116173.2 Q9BXY4 RSPO3_HUMAN R-spondin 3 114 extracellular region heparin binding PTPRK/RSPO3(10) breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 GBM - Glioblastoma multiforme(226;0.0555) TGCACAAAATGTAAAAGTGGA 0.368000 20 75 6.33239e-15 9.09203e-15 1 1 0 HFM1 164045 broad.mit.edu 37 1 91845681 91845681 + Nonsense_Mutation SNP A A T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:91845681A>T ENST00000370425.3 - 8 1084 c.986T>A c.(985-987)tTg>tAg p.L329* HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Nonsense_Mutation_p.L8* NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 329 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TTTAATATTCAACCATGGCAA 0.284000 15 96 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237948056 237948056 + Silent SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:237948056G>A ENST00000366574.2 + 90 13361 c.13044G>A c.(13042-13044)gaG>gaA p.E4348E RYR2_ENST00000360064.6_Silent_p.E4354E|RYR2_ENST00000542537.1_Silent_p.E4332E NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4348 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATGGGGAGGAGGGAGAGAGGA 0.547000 14 108 0 0 1 0 0 PLEKHB2 55041 broad.mit.edu 37 2 131883426 131883426 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:131883426G>T ENST00000403716.1 + 3 698 c.138G>T c.(136-138)aaG>aaT p.K46N PLEKHB2_ENST00000404460.1_Missense_Mutation_p.K46N|PLEKHB2_ENST00000538982.1_5'UTR|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.K46N|PLEKHB2_ENST00000438882.2_Missense_Mutation_p.K46N|PLEKHB2_ENST00000303908.3_Missense_Mutation_p.K46N|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.K46N|PLEKHB2_ENST00000439822.2_Missense_Mutation_p.K46N|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.K46N|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.K46N NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2 NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2 Q96CS7 PKHB2_HUMAN pleckstrin homology domain containing, family B (evectins) member 2 46 PH. membrane protein binding large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.0828) TCGAGGATAAGGTCCACATGC 0.502000 24 72 2.79863e-10 3.74165e-10 1 1 0 OR6Y1 391112 broad.mit.edu 37 1 158517445 158517445 + Missense_Mutation SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:158517445C>T ENST00000302617.3 - 1 450 c.451G>A c.(451-453)Gga>Aga p.G151R NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) CAGCATCCTCCAGCCAGTGTG 0.468000 10 87 0 0 1 0 0 TLR6 10333 broad.mit.edu 37 4 38830297 38830297 + Silent SNP C C G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr4:38830297C>G ENST00000436693.2 - 2 917 c.798G>C c.(796-798)ctG>ctC p.L266L TLR6_ENST00000381950.1_Silent_p.L266L NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 266 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AGACTCTGACCAGGCATTTCC 0.333000 11 63 0 0 1 0 0 ZNF331 55422 broad.mit.edu 37 19 54072640 54072640 + Splice_Site SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr19:54072640G>T ENST00000253144.9 + 5 1342 c.e5+1 ZNF331_ENST00000513265.1_Splice_Site|ZNF331_ENST00000449416.1_Splice_Site|ZNF331_ENST00000411977.2_Splice_Site|ZNF331_ENST00000512387.1_Splice_Site|ZNF331_ENST00000511593.2_Splice_Site|ZNF331_ENST00000511154.1_Splice_Site|ZNF331_ENST00000513999.1_Splice_Site NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) AATGGCCCAGGTAAGTGTATA 0.403000 T ? follicular thyroid adenoma 39 128 1.59932e-28 2.73218e-28 1 1 0 MANBA 4126 broad.mit.edu 37 4 103647806 103647806 + Missense_Mutation SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr4:103647806C>T ENST00000226578.4 - 2 311 c.212G>A c.(211-213)aGa>aAa p.R71K MANBA_ENST00000505239.1_Missense_Mutation_p.R71K NM_005908.3 NP_005899.3 O00462 MANBA_HUMAN mannosidase, beta A, lysosomal 71 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) AGAGACCCATCTGTAGTTAAG 0.289000 27 98 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36595901 36595901 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr11:36595901C>A ENST00000299440.5 + 2 1159 c.1047C>A c.(1045-1047)agC>agA p.S349R NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 349 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) CCTTTCTGAGCGTCTTGAATT 0.458000 Familial Hemophagocytic Lymphohistiocytosis 9 74 1.12685e-05 1.27548e-05 1 1 0 CNKSR1 10256 broad.mit.edu 37 1 26513901 26513901 + Splice_Site SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:26513901G>T ENST00000531191.1 + 15 1615 c.e15-1 CNKSR1_ENST00000361530.6_Splice_Site|CNKSR1_ENST00000374253.5_Splice_Site Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) CTACCTGGCAGTGTGTTTCAG 0.592000 43 92 9.39024e-22 1.48712e-21 1 1 0 LMBR1L 55716 broad.mit.edu 37 12 49495284 49495284 + Missense_Mutation SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr12:49495284C>T ENST00000267102.8 - 12 1321 c.979G>A c.(979-981)Gat>Aat p.D327N LMBR1L_ENST00000395141.4_Missense_Mutation_p.D322N|LMBR1L_ENST00000547382.1_Missense_Mutation_p.D327N NM_018113.2 NP_060583.2 Q6UX01 LMBRL_HUMAN limb development membrane protein 1-like 327 endocytosis integral to membrane|plasma membrane receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GCAGCCTCATCGATGAGCAGC 0.612000 9 34 0 0 1 0 0 OR5H2 79310 broad.mit.edu 37 3 98002185 98002185 + Missense_Mutation SNP T T A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr3:98002185T>A ENST00000355273.2 + 1 454 c.454T>A c.(454-456)Ttc>Atc p.F152I RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 GCTGTTAGCCTTCTCATTTTT 0.363000 22 89 0 0 1 0 0 C3orf58 205428 broad.mit.edu 37 3 143704408 143704408 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr3:143704408G>T ENST00000315691.3 + 2 1216 c.681G>T c.(679-681)tgG>tgT p.W227C C3orf58_ENST00000495414.1_Missense_Mutation_p.W18C|C3orf58_ENST00000441925.2_5'UTR|C3orf58_ENST00000493396.1_Intron NM_173552.3 NP_775823.1 Q8NDZ4 CC058_HUMAN chromosome 3 open reading frame 58 227 COPI vesicle coat|extracellular region breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ATGAAGGTTGGCCATTTGCAA 0.383000 30 155 2.2171e-23 3.65228e-23 1 1 0 COL6A5 256076 broad.mit.edu 37 3 130159236 130159236 + Silent SNP T T C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr3:130159236T>C ENST00000265379.6 + 35 6548 c.6054T>C c.(6052-6054)agT>agC p.S2018S COL6A5_ENST00000432398.2_Silent_p.S2018S A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 2018 Nonhelical region.|VWFA 9. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 CTTGGGAAAGTTCCAGGAGAA 0.413000 26 57 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179641392 179641392 + Silent SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:179641392C>A ENST00000589042.1 - 28 5423 c.5199G>T c.(5197-5199)acG>acT p.T1733T TTN_ENST00000359218.5_Silent_p.T1687T|TTN_ENST00000591111.1_Silent_p.T1733T|TTN_ENST00000460472.2_Silent_p.T1687T|TTN_ENST00000360870.5_Silent_p.T1733T|TTN_ENST00000342175.6_Silent_p.T1687T|TTN_ENST00000342992.6_Silent_p.T1733T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1485 Ig-like 8. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCACCACCATCGTTGGGTCAC 0.473000 23 60 3.8784e-16 5.70172e-16 1 1 0 PCDHB14 56122 broad.mit.edu 37 5 140603730 140603730 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr5:140603730G>T ENST00000239449.4 + 1 653 c.653G>T c.(652-654)gGa>gTa p.G218V PCDHB14_ENST00000515856.2_Missense_Mutation_p.G65V NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 218 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTGGATGGTGGATCCCCGCCC 0.463000 37 109 6.53348e-20 1.00873e-19 1 1 0 NTNG1 22854 broad.mit.edu 37 1 107979390 107979390 + Silent SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:107979390G>T ENST00000370068.1 + 7 2205 c.1359G>T c.(1357-1359)ctG>ctT p.L453L NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370061.3_Silent_p.L419L|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370073.2_Silent_p.L453L|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000542803.1_Silent_p.L453L Q9Y2I2 NTNG1_HUMAN netrin G1 453 Laminin EGF-like 3. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) ATGAGTGTCTGCCGGGAAATT 0.517000 8 47 0.000274275 0.000301213 1 1 0 KIR2DL1 3802 broad.mit.edu 37 19 55290114 55290114 + Splice_Site SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr19:55290114G>T ENST00000336077.6 + 5 755 c.715_splice c.e5+1 p.G239_splice KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL1_ENST00000291633.7_Splice_Site_p.E239_splice|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 239 immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CTCCAAAACCGGTGAGTACAG 0.507000 12 179 3.27435e-08 4.08188e-08 1 1 0 ADAM32 203102 broad.mit.edu 37 8 39080570 39080570 + Silent SNP A A T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr8:39080570A>T ENST00000379907.4 + 14 1465 c.1338A>T c.(1336-1338)tcA>tcT p.S446S ADAM32_ENST00000437682.2_Silent_p.S347S|ADAM32_ENST00000519315.1_Silent_p.S340S NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 446 Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) TTTTACAATCAGGCGTTGAAT 0.323000 3 16 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154396947 154396947 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr5:154396947G>T ENST00000435029.4 + 1 3688 c.3528G>T c.(3526-3528)gaG>gaT p.E1176D NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 1176 Globular (By similarity).|Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GTGACATGGAGCAGGTGCTGT 0.512000 18 51 1.33834e-09 1.73279e-09 1 1 0 CALU 813 broad.mit.edu 37 7 128398933 128398933 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr7:128398933G>T ENST00000542996.2 + 5 1391 c.448G>T c.(448-450)Gat>Tat p.D150Y CALU_ENST00000479257.1_Missense_Mutation_p.D150Y|CALU_ENST00000538546.1_5'UTR|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000535011.2_Missense_Mutation_p.D142Y|CALU_ENST00000449187.2_Missense_Mutation_p.D142Y|CALU_ENST00000249364.4_Missense_Mutation_p.D142Y NM_001199672.1 NP_001186601.1 O43852 CALU_HUMAN calumenin 142 platelet activation|platelet degranulation extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen calcium ion binding|protein binding kidney(2)|large_intestine(3)|lung(5) 10 AGATGATCCAGATCCTGATGA 0.363000 44 166 7.05121e-23 1.15128e-22 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25321105 25321105 + RNA SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr15:25321105C>A ENST00000549804.2 + 0 1109 SNORD116-11_ENST00000383882.1_RNA TACGTGGGTTCCTTGGAAAGT 0.438000 19 70 4.96729e-08 6.1302e-08 1 1 0 SORCS3 22986 broad.mit.edu 37 10 106959756 106959756 + Splice_Site SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr10:106959756G>A ENST00000369701.3 + 15 2236 c.e15-1 SORCS3_ENST00000369699.4_Splice_Site NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TAAACACTTAGAGTTTTTGGC 0.493000 34 60 0 0 1 0 0 TLDC2 140711 broad.mit.edu 37 20 35507481 35507481 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr20:35507481C>A ENST00000217320.3 + 3 271 c.227C>A c.(226-228)cCc>cAc p.P76H TLDC2_ENST00000602922.1_Missense_Mutation_p.P76H NM_080628.1 NP_542195.1 TBC/LysM-associated domain containing 2 ACCGGCCATCCCTGGAGTCTG 0.632000 45 102 3.39706e-21 5.3115e-21 1 1 0 SNAP91 9892 broad.mit.edu 37 6 84300969 84300969 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr6:84300969C>A ENST00000428679.2 - 22 2568 c.1975G>T c.(1975-1977)Gct>Tct p.A659S SNAP91_ENST00000520302.1_Missense_Mutation_p.A629S|SNAP91_ENST00000195649.6_Missense_Mutation_p.A659S|SNAP91_ENST00000521485.1_Missense_Mutation_p.A659S|SNAP91_ENST00000521743.1_Missense_Mutation_p.A659S|SNAP91_ENST00000369694.2_Missense_Mutation_p.A659S|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000439399.2_Missense_Mutation_p.A659S|SNAP91_ENST00000437520.1_Intron O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 659 clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) CTAGAAGCAGCCTGAGATGCA 0.363000 15 83 5.03518e-11 6.85602e-11 1 1 0 KIAA1468 57614 broad.mit.edu 37 18 59919898 59919898 + Splice_Site SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr18:59919898C>A ENST00000256858.6 + 12 1983 c.1733_splice c.e12-1 p.Q579_splice KIAA1468_ENST00000398130.2_Splice_Site_p.Q579_splice Q9P260 K1468_HUMAN KIAA1468 579 binding p.Q579K(3) autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) ATTTTTCAGGCAAATGATACT 0.383000 10 72 1.33987e-11 1.86571e-11 1 1 0 KLK6 5653 broad.mit.edu 37 19 51466621 51466621 + Nonsense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr19:51466621C>A ENST00000376851.3 - 4 821 c.382G>T c.(382-384)Gag>Tag p.E128* KLK6_ENST00000594641.1_Nonsense_Mutation_p.E128*|KLK6_ENST00000456750.2_Nonsense_Mutation_p.E21*|KLK6_ENST00000391808.1_Nonsense_Mutation_p.E21*|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000310157.2_Nonsense_Mutation_p.E128*|KLK6_ENST00000376853.4_Intron NM_001012964.1 NP_001012982.1 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 128 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) CAGTCCCTCTCCAGGGGAAGG 0.622000 12 57 1.08611e-07 1.30972e-07 1 1 0 PBRM1 55193 broad.mit.edu 37 3 52623110 52623110 + Missense_Mutation SNP C C G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr3:52623110C>G ENST00000356770.4 - 17 2847 c.2845G>C c.(2845-2847)Gaa>Caa p.E949Q PBRM1_ENST00000394830.3_Missense_Mutation_p.E981Q|PBRM1_ENST00000337303.4_Missense_Mutation_p.E981Q|PBRM1_ENST00000296302.7_Missense_Mutation_p.E981Q|PBRM1_ENST00000410007.1_Missense_Mutation_p.E981Q|PBRM1_ENST00000409767.1_Missense_Mutation_p.E996Q|PBRM1_ENST00000409114.3_Missense_Mutation_p.E996Q|PBRM1_ENST00000409057.1_Missense_Mutation_p.E981Q Q86U86 PB1_HUMAN polybromo 1 981 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding p.E981*(2)|p.E949*(1) breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CACAGTCTTTCAATACAGACG 0.428000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 13 213 0 0 1 0 0 OS9 10956 broad.mit.edu 37 12 58109550 58109550 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr12:58109550G>T ENST00000315970.7 + 6 628 c.587G>T c.(586-588)tGt>tTt p.C196F OS9_ENST00000551035.1_Missense_Mutation_p.C163F|OS9_ENST00000435406.2_Missense_Mutation_p.C144F|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000257966.8_Missense_Mutation_p.C196F|OS9_ENST00000439210.2_Missense_Mutation_p.C137F|OS9_ENST00000552285.1_Missense_Mutation_p.C196F|OS9_ENST00000413095.2_Intron|OS9_ENST00000389142.5_Missense_Mutation_p.C196F|OS9_ENST00000389146.6_Missense_Mutation_p.C196F NM_001017958.2|NM_006812.3 NP_001017958.1|NP_006803.1 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum lectin 196 ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 21 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) CAGTTCCTCTGTGACGAGGGT 0.483000 11 53 0.0809354 0.0834222 1 1 0 DNAH9 1770 broad.mit.edu 37 17 11520887 11520887 + Missense_Mutation SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr17:11520887C>T ENST00000262442.3 + 5 1132 c.1064C>T c.(1063-1065)cCg>cTg p.P355L DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.P355L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 355 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TACCGCTCCCCGGGAAGGCTG 0.622000 19 63 0 0 1 0 0 RAB8B 51762 broad.mit.edu 37 15 63548753 63548753 + Missense_Mutation SNP T T C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr15:63548753T>C ENST00000321437.4 + 5 530 c.374T>C c.(373-375)aTg>aCg p.M125T RAB8B_ENST00000448330.2_Missense_Mutation_p.M125T NM_016530.2 NP_057614.1 Q92930 RAB8B_HUMAN RAB8B, member RAS oncogene family 125 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 AAATGTGATATGAATGACAAA 0.383000 22 56 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11562003 11562003 + Silent SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:11562003C>T ENST00000294484.6 + 2 1092 c.954C>T c.(952-954)ccC>ccT p.P318P PTCHD2_ENST00000389575.3_Silent_p.P318P NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 318 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GCTGGAAGCCCCACGAGGTGC 0.607000 4 51 0 0 1 0 0 IGKV3D-20 28874 broad.mit.edu 37 2 90078276 90078276 + RNA SNP G G C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:90078276G>C ENST00000390270.2 + 0 410 TGAAGATTTTGCAGTGTATTA 0.488000 5 55 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137496707 137496707 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr5:137496707C>A ENST00000254900.5 - 18 2671 c.2300G>T c.(2299-2301)cGa>cTa p.R767L BRD8_ENST00000455658.2_Missense_Mutation_p.R726L|BRD8_ENST00000411594.2_Missense_Mutation_p.R770L|BRD8_ENST00000402931.1_Missense_Mutation_p.R767L|BRD8_ENST00000230901.5_Missense_Mutation_p.R840L|BRD8_ENST00000515014.1_5'UTR NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 767 Bromo 1. cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AGCTGTGCTTCGGATCAGTCC 0.413000 7 102 0.00198382 0.00212182 1 1 0 POM121L12 285877 broad.mit.edu 37 7 53103524 53103524 + Missense_Mutation SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr7:53103524C>T ENST00000408890.4 + 1 176 c.160C>T c.(160-162)Ccc>Tcc p.P54S NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 54 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GAGTCCCTGGCCCCTGAGGTC 0.701000 6 45 0 0 1 0 0 ADAMTS1 9510 broad.mit.edu 37 21 28212297 28212297 + Missense_Mutation SNP C C G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr21:28212297C>G ENST00000284984.2 - 6 2203 c.1749G>C c.(1747-1749)atG>atC p.M583I NM_006988.3 NP_008919.3 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 1 583 TSP type-1 1. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 42 Breast(209;0.000962) Lung(58;0.215) CACATTCCCTCATCGTGTACT 0.512000 36 85 0 0 1 0 0 RNF20 56254 broad.mit.edu 37 9 104314043 104314043 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr9:104314043G>T ENST00000389120.3 + 11 1440 c.1350G>T c.(1348-1350)aaG>aaT p.K450N NM_019592.5 NP_062538.5 Q5VTR2 BRE1A_HUMAN ring finger protein 20, E3 ubiquitin protein ligase 450 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) AGGTCCGCAAGGAGTATGAAA 0.428000 25 70 9.57634e-11 1.29914e-10 1 1 0 DNAH9 1770 broad.mit.edu 37 17 11593217 11593217 + Nonsense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr17:11593217G>T ENST00000262442.3 + 20 4146 c.4078G>T c.(4078-4080)Gaa>Taa p.E1360* DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E1360* NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1360 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CACAGGCCTGGAAAGCACTGT 0.587000 4 20 0.150653 0.153567 1 1 0 ANKRD30B 374860 broad.mit.edu 37 18 14757862 14757862 + Silent SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr18:14757862C>T ENST00000358984.4 + 5 846 c.666C>T c.(664-666)ggC>ggT p.G222G ANKRD30B_ENST00000447268.2_Silent_p.G222G|ANKRD30B_ENST00000579292.1_Intron NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 222 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 AGATAGTCGGCATGCTTCTTC 0.383000 11 44 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716375 13716375 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr12:13716375G>T ENST00000279593.3 - 13 4006 c.3797C>A c.(3796-3798)cCg>cAg p.P1266Q NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1266 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGGGGCAGCCGGCTGGTCCAG 0.587000 21 87 1.87028e-06 2.1909e-06 1 1 0 AIFM3 150209 broad.mit.edu 37 22 21332293 21332293 + Splice_Site SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr22:21332293G>T ENST00000399167.2 + 16 1716 c.1477_splice c.e16+1 p.Q492_splice AIFM3_ENST00000333607.6_Splice_Site_p.Q492_splice|AIFM3_ENST00000335375.5_Splice_Site_p.Q480_splice|AIFM3_ENST00000399163.2_Splice_Site_p.Q492_splice|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000405089.1_Splice_Site_p.Q498_splice|AIFM3_ENST00000440238.2_Splice_Site_p.Q492_splice NM_144704.2 NP_653305.1 apoptosis-inducing factor, mitochondrion-associated, 3 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 21 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CTCATGCTCAGGGTATGGCCA 0.597000 11 29 4.3838e-07 5.20136e-07 1 1 0 DOCK10 55619 broad.mit.edu 37 2 225642911 225642911 + Missense_Mutation SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:225642911G>A ENST00000409592.3 - 51 5841 c.5728C>T c.(5728-5730)Ctc>Ttc p.L1910F DOCK10_ENST00000258390.7_Missense_Mutation_p.L1916F Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1916 DHR-2. GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TCTGCATAGAGCTTGAGTAAT 0.378000 14 22 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228462498 228462498 + Missense_Mutation SNP T T C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:228462498T>C ENST00000570156.2 + 24 7108 c.7034T>C c.(7033-7035)gTg>gCg p.V2345A RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1970A|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.V1970A|OBSCN_ENST00000359599.6_Missense_Mutation_p.V817A NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1330 Ig-like 23. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CAGATCACCGTGGAGGCTGAG 0.647000 8 27 0 0 1 0 0 FOXI1 2299 broad.mit.edu 37 5 169533165 169533165 + Silent SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr5:169533165C>A ENST00000449804.2 + 1 249 c.204C>A c.(202-204)ccC>ccA p.P68P FOXI1_ENST00000306268.6_Silent_p.P68P NM_012188.4|NM_144769.2 NP_036320.2|NP_658982.1 Q12951 FOXI1_HUMAN forkhead box I1 68 Pro-rich. epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCAACGGGCCCACCATGACCC 0.721000 Pendred syndrome 5 21 0.184627 0.187679 1 1 0 CCDC85A 114800 broad.mit.edu 37 2 56419635 56419635 + Missense_Mutation SNP A A T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:56419635A>T ENST00000407595.2 + 2 802 c.300A>T c.(298-300)gaA>gaT p.E100D RP11-482H16.1_ENST00000607540.1_RNA NM_001080433.1 NP_001073902.1 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 100 breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) AACTCCAGGAAGACAACCAGG 0.527000 7 95 0 0 1 0 0 C12orf60 144608 broad.mit.edu 37 12 14975885 14975885 + Missense_Mutation SNP G G C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr12:14975885G>C ENST00000330828.2 + 2 220 c.16G>C c.(16-18)Gaa>Caa p.E6Q C12orf60_ENST00000527783.1_Intron NM_175874.3 NP_787070.2 Q5U649 CL060_HUMAN chromosome 12 open reading frame 60 6 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 9 TTCAGAGTCAGAAAAGGATAA 0.358000 7 127 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232649637 232649637 + Silent SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:232649637C>A ENST00000366630.1 - 2 1807 c.1449G>T c.(1447-1449)ggG>ggT p.G483G SIPA1L2_ENST00000262861.4_Silent_p.G483G Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 483 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) AATAATAGGCCCCAAGGTCAA 0.463000 52 263 3.07002e-29 5.269e-29 1 1 0 MUC16 94025 broad.mit.edu 37 19 9033621 9033621 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr19:9033621G>T ENST00000397910.4 - 9 36519 c.36316C>A c.(36316-36318)Ctg>Atg p.L12106M NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12108 SEA 1. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGACCCTGCAGTTCTCTCTCT 0.607000 18 33 1.33834e-09 1.73279e-09 1 1 0 NRDE2 55051 broad.mit.edu 37 14 90756952 90756952 + Splice_Site SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr14:90756952C>A ENST00000354366.3 - 10 2075 c.e10-1 NRDE2_ENST00000357904.3_Splice_Site NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing CAAACAACACCTGCAACAAAG 0.413000 11 31 4.68919e-08 5.80641e-08 1 1 0 FAM151A 338094 broad.mit.edu 37 1 55078371 55078371 + Silent SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:55078371C>A ENST00000302250.2 - 5 748 c.588G>T c.(586-588)ctG>ctT p.L196L FAM151A_ENST00000371304.2_Silent_p.L196L|ACOT11_ENST00000371316.3_Intron NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 196 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 TCTCCTGGACCAGGGCCAGGA 0.572000 12 58 1.08611e-07 1.30972e-07 1 1 0 ATXN10 25814 broad.mit.edu 37 22 46096245 46096245 + Missense_Mutation SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr22:46096245C>T ENST00000252934.5 + 4 740 c.475C>T c.(475-477)Cca>Tca p.P159S ATXN10_ENST00000381061.4_Missense_Mutation_p.P95S|ATXN10_ENST00000498009.1_3'UTR NM_013236.3 NP_037368.1 Q9UBB4 ATX10_HUMAN ataxin 10 159 cell death|neuron projection development dendrite|neuronal cell body|perinuclear region of cytoplasm central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 10 Ovarian(80;0.00973)|all_neural(38;0.0417) UCEC - Uterine corpus endometrioid carcinoma (28;0.0223) GCATGCTTTCCCAGAACTGTT 0.353000 13 36 0 0 1 0 0 OR5K4 403278 broad.mit.edu 37 3 98073083 98073083 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr3:98073083C>A ENST00000354924.2 + 1 386 c.386C>A c.(385-387)cCa>cAa p.P129Q RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005517.1 NP_001005517.1 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, member 4 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 ATATGCCACCCACTGCAGTAC 0.488000 37 213 9.17885e-22 1.45991e-21 1 1 0 RXFP4 339403 broad.mit.edu 37 1 155912494 155912494 + Missense_Mutation SNP T T A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:155912494T>A ENST00000368318.3 + 1 1015 c.994T>A c.(994-996)Tgg>Agg p.W332R NM_181885.2 NP_871001.1 Q8TDU9 RL3R2_HUMAN relaxin/insulin-like family peptide receptor 4 332 integral to membrane|plasma membrane angiotensin type II receptor activity endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 13 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) GTTGAGGCTGTGGCCCCAGGG 0.662000 20 125 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3242137 3242137 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chrX:3242137C>A ENST00000217939.6 - 5 1743 c.1589G>T c.(1588-1590)aGc>aTc p.S530I NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 530 Ig-like C2-type 1. 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) GGAGAACTTGCTGTCTGGGTC 0.522000 4 47 0.00909568 0.00956213 1 1 0 DOCK2 1794 broad.mit.edu 37 5 169126462 169126462 + Splice_Site SNP G G C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr5:169126462G>C ENST00000256935.8 + 12 1212 c.1132_splice c.e12+1 p.G378_splice NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 378 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGAGGGCAAGGTAAAGTGCC 0.512000 7 85 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212587158 212587158 + Silent SNP T T G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:212587158T>G ENST00000342788.4 - 7 1153 c.843A>C c.(841-843)gcA>gcC p.A281A ERBB4_ENST00000402597.1_Silent_p.A281A|ERBB4_ENST00000436443.1_Silent_p.A281A NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 281 Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ATGTGTACTTTGCATTGAAAT 0.363000 TSP Lung(8;0.080) 14 55 0 0 1 0 0 OR8I2 120586 broad.mit.edu 37 11 55861397 55861397 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr11:55861397C>A ENST00000302124.2 + 1 645 c.614C>A c.(613-615)aCt>aAt p.T205N OR8I2_ENST00000560768.1_3'UTR Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) GCTGGATTCACTCTTCTTAGC 0.453000 16 111 1.5739e-10 2.11959e-10 1 1 0 HRAS 3265 broad.mit.edu 37 11 533462 533462 + Missense_Mutation SNP C C G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr11:533462C>G ENST00000417302.1 - 4 628 c.441G>C c.(439-441)aaG>aaC p.K147N HRAS_ENST00000397596.2_Missense_Mutation_p.K147N|HRAS_ENST00000311189.7_Missense_Mutation_p.K147N|HRAS_ENST00000397594.1_Missense_Mutation_p.K147N|HRAS_ENST00000451590.1_Missense_Mutation_p.K147N NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 147 activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CCTGCCGGGTCTTGGCCGAGG 0.667000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 23 81 0 0 1 0 0 PTPRJ 5795 broad.mit.edu 37 11 48177607 48177607 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr11:48177607G>T ENST00000418331.2 + 21 3726 c.3374G>T c.(3373-3375)cGt>cTt p.R1125L NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 1125 Tyrosine-protein phosphatase. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GATTTTTGGCGTATGGTTTGG 0.338000 52 155 7.47603e-22 1.19422e-21 1 1 0 NPHP4 261734 broad.mit.edu 37 1 6008139 6008139 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:6008139G>T ENST00000378156.4 - 8 1248 c.983C>A c.(982-984)tCc>tAc p.S328Y NPHP4_ENST00000478423.2_5'UTR NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 328 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) CCTGGTCTTGGAAGAGGAGAC 0.557000 11 33 1.5842e-08 1.98833e-08 1 1 0 PRAMEF2 65122 broad.mit.edu 37 1 12919136 12919136 + Missense_Mutation SNP A A T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:12919136A>T ENST00000240189.2 + 2 359 c.272A>T c.(271-273)cAg>cTg p.Q91L NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 91 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTGCTTACACAGAAGGATCGC 0.552000 91 243 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230661362 230661362 + Missense_Mutation SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:230661362G>A ENST00000283943.5 - 24 3714 c.3536C>T c.(3535-3537)gCt>gTt p.A1179V TRIP12_ENST00000389044.4_Missense_Mutation_p.A1227V|TRIP12_ENST00000389045.3_Missense_Mutation_p.A909V NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1179 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TCTGCTCACAGCATCCTTTTC 0.348000 17 89 0 0 1 0 0 NDUFS2 4720 broad.mit.edu 37 1 161173236 161173236 + Silent SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:161173236G>T ENST00000392179.4 + 2 344 c.105G>T c.(103-105)cgG>cgT p.R35R NDUFS2_ENST00000367993.3_Silent_p.R35R|NDUFS2_ENST00000476409.2_Intron NM_001166159.1 NP_001159631.1 O75306 NDUS2_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) 35 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1) 18 all_cancers(52;1.16e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) NADH(DB00157) GAGGTGTTCGGCAGTGGCAGC 0.537000 15 59 6.31663e-08 7.69253e-08 1 1 0 ADCY2 108 broad.mit.edu 37 5 7757687 7757687 + Silent SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr5:7757687C>T ENST00000338316.4 + 16 2171 c.2082C>T c.(2080-2082)gcC>gcT p.A694A ADCY2_ENST00000537121.1_Silent_p.A514A NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 694 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 cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding p.?(1) NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TAATGATGGCCGTGTTCAACA 0.547000 18 101 0 0 1 0 0 OC90 729330 broad.mit.edu 37 8 133053389 133053389 + Missense_Mutation SNP T T A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr8:133053389T>A ENST00000262283.5 - 9 1046 c.947A>T c.(946-948)cAc>cTc p.H316L OC90_ENST00000603859.1_Missense_Mutation_p.H120L|OC90_ENST00000443356.2_Missense_Mutation_p.H120L|OC90_ENST00000254627.3_Missense_Mutation_p.H120L Q02509 OC90_HUMAN otoconin 90 120 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) GCACCTGCGGTGCTGGAAGCA 0.562000 35 77 0 0 1 0 0 DEPDC7 91614 broad.mit.edu 37 11 33054483 33054483 + Missense_Mutation SNP C C G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr11:33054483C>G ENST00000311388.3 + 8 1661 c.1285C>G c.(1285-1287)Cag>Gag p.Q429E DEPDC7_ENST00000241051.3_Missense_Mutation_p.Q438E NM_139160.2 NP_631899.2 Q96QD5 DEPD7_HUMAN DEP domain containing 7 438 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 17 TATGGCCATACAGAACGGAAG 0.323000 12 99 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75847172 75847172 + Missense_Mutation SNP C C G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr6:75847172C>G ENST00000322507.8 - 31 5684 c.5375G>C c.(5374-5376)gGg>gCg p.G1792A COL12A1_ENST00000483888.2_Missense_Mutation_p.G1792A|COL12A1_ENST00000416123.2_Missense_Mutation_p.G1792A|COL12A1_ENST00000345356.6_Missense_Mutation_p.G628A NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1792 Fibronectin type-III 13. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 ATTGCCTTCCCCTGTGGAAGG 0.388000 5 35 0 0 1 0 0 ADGRG1 9289 broad.mit.edu 37 16 57685482 57685482 + Silent SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr16:57685482C>T ENST00000562631.1 + 3 967 c.435C>T c.(433-435)agC>agT p.S145S GPR56_ENST00000456916.1_Silent_p.S145S|GPR56_ENST00000388812.4_Silent_p.S145S|GPR56_ENST00000379694.4_Intron|GPR56_ENST00000568908.1_Silent_p.S145S|GPR56_ENST00000538815.1_Silent_p.S145S|GPR56_ENST00000568909.1_Silent_p.S145S|GPR56_ENST00000379696.3_Silent_p.S145S|GPR56_ENST00000564912.1_3'UTR|GPR56_ENST00000562558.1_Silent_p.S145S|GPR56_ENST00000544297.1_5'UTR|GPR56_ENST00000540164.2_Silent_p.S145S|GPR56_ENST00000567835.1_Silent_p.S145S|GPR56_ENST00000388813.5_Silent_p.S145S Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 145 brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 15 CCTGGTGGAGCCCTCAGAACA 0.607000 6 46 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70954809 70954809 + Silent SNP C C T rs76023477 by1000genomes TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr16:70954809C>T ENST00000393567.2 - 46 7620 c.7470G>A c.(7468-7470)gcG>gcA p.A2490A NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2490 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GCTCATGGGGCGCTTCCTCCA 0.622000 7 46 0 0 1 0 0 MTDH 92140 broad.mit.edu 37 8 98735159 98735159 + Missense_Mutation SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr8:98735159C>T ENST00000336273.3 + 11 1902 c.1574C>T c.(1573-1575)tCa>tTa p.S525L MTDH_ENST00000519934.1_Missense_Mutation_p.S469L NM_178812.3 NP_848927.2 Q86UE4 LYRIC_HUMAN metadherin 525 lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) GTAATCTTATCAAAAAGTGAT 0.383000 44 129 0 0 1 0 0 DAO 1610 broad.mit.edu 37 12 109278920 109278920 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr12:109278920C>A ENST00000228476.3 + 2 342 c.138C>A c.(136-138)gaC>gaA p.D46E DAO_ENST00000551281.1_Missense_Mutation_p.D46E NM_001917.4 NP_001908.3 P14920 OXDA_HUMAN D-amino-acid oxidase 46 glyoxylate metabolic process peroxisomal matrix binding|D-amino-acid oxidase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1) 26 CCACCACCGACGTGGCTGCCG 0.627000 21 114 2.89027e-11 3.96472e-11 1 1 0 FAT2 2196 broad.mit.edu 37 5 150923131 150923131 + Silent SNP A A G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr5:150923131A>G ENST00000261800.5 - 9 7569 c.7557T>C c.(7555-7557)acT>acC p.T2519T NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2519 Cadherin 22. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TATTGATGATAGTATAATCTA 0.418000 56 175 0 0 1 0 0 STYK1 55359 broad.mit.edu 37 12 10777427 10777427 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr12:10777427C>A ENST00000075503.3 - 8 1269 c.749G>T c.(748-750)gGg>gTg p.G250V NM_018423.2 NP_060893.2 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 250 Protein kinase. integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 TGCCACATCCCCATGGAACAA 0.478000 HNSCC(73;0.22) 28 168 4.87955e-14 6.9789e-14 1 1 0 TMEM119 338773 broad.mit.edu 37 12 108985414 108985414 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr12:108985414C>A ENST00000392806.3 - 2 914 c.746G>T c.(745-747)gGc>gTc p.G249V NM_181724.2 NP_859075.2 Q4V9L6 TM119_HUMAN transmembrane protein 119 249 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 CTCCCCTTGGCCCTCACCGGC 0.662000 37 121 4.0492e-12 5.6812e-12 1 1 0 FAM101A 144347 broad.mit.edu 37 12 124798961 124798961 + Missense_Mutation SNP A A C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr12:124798961A>C ENST00000389727.3 + 3 541 c.541A>C c.(541-543)Acc>Ccc p.T181P FAM101A_ENST00000338359.4_Missense_Mutation_p.T100P|FAM101A_ENST00000546355.1_Missense_Mutation_p.T100P|FAM101A_ENST00000324038.3_Missense_Mutation_p.T100P Q6ZTI6 F101A_HUMAN family with sequence similarity 101, member A 181 endometrium(1)|kidney(1)|lung(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059) CACTTTCCGGACCACCCTGCA 0.701000 16 64 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11607714 11607714 + Silent SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr17:11607714C>A ENST00000262442.3 + 25 5414 c.5346C>A c.(5344-5346)atC>atA p.I1782I DNAH9_ENST00000454412.2_Silent_p.I1782I NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1782 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TATGCACCATCGATGTGCATG 0.498000 12 78 0.00136819 0.00147191 1 1 0 TPTE2 93492 broad.mit.edu 37 13 20041365 20041365 + Splice_Site SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr13:20041365C>A ENST00000400230.2 - 7 556 c.512_splice c.e7+1 p.R171_splice TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382977.4_Splice_Site_p.R171_splice|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000382978.1_Intron Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 171 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) TGTTTCATACCTGGGAATATT 0.294000 17 43 0.000566183 0.000616288 1 1 0 ZNF831 128611 broad.mit.edu 37 20 57767984 57767984 + Missense_Mutation SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr20:57767984C>T ENST00000371030.2 + 1 1910 c.1910C>T c.(1909-1911)gCc>gTc p.A637V NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 637 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AAAATGAAAGCCAGTCCCCAT 0.567000 26 100 0 0 1 0 0 EGFL6 25975 broad.mit.edu 37 X 13635972 13635972 + Missense_Mutation SNP C C G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chrX:13635972C>G ENST00000361306.1 + 8 1159 c.902C>G c.(901-903)cCa>cGa p.P301R EGFL6_ENST00000380602.3_Missense_Mutation_p.P301R NM_001167890.1|NM_015507.3 NP_001161362.1|NP_056322.2 Q8IUX8 EGFL6_HUMAN EGF-like-domain, multiple 6 301 cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3) 23 AATGTTACCCCAGAACCCACC 0.448000 40 51 0 0 1 0 0 WSCD2 9671 broad.mit.edu 37 12 108642027 108642027 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr12:108642027G>T ENST00000332082.4 + 10 2423 c.1605G>T c.(1603-1605)atG>atT p.M535I WSCD2_ENST00000547525.1_Missense_Mutation_p.M535I|WSCD2_ENST00000261400.3_Missense_Mutation_p.M555I|WSCD2_ENST00000549903.1_Missense_Mutation_p.M555I Q2TBF2 WSCD2_HUMAN WSC domain containing 2 535 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 CTGCGGACATGCAGAAGACCA 0.572000 21 70 4.54149e-19 6.86807e-19 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77690591 77690591 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr8:77690591C>A ENST00000521891.2 + 4 3689 c.3241C>A c.(3241-3243)Cag>Aag p.Q1081K ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q1055K|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q1055K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q1055K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1055 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACGGAAGCTCCAGCTCCACCA 0.512000 HNSCC(33;0.089) 43 184 1.8453e-21 2.89751e-21 1 1 0 OR6B1 135946 broad.mit.edu 37 7 143701237 143701237 + Silent SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr7:143701237C>T ENST00000408922.2 + 1 216 c.148C>T c.(148-150)Ctg>Ttg p.L50L NM_001005281.1 NP_001005281.1 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, member 1 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) CCTATTGGTGCTGCAAAATCG 0.488000 18 97 0 0 1 0 0 GC 2638 broad.mit.edu 37 4 72620755 72620755 + Silent SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr4:72620755G>A ENST00000273951.8 - 9 1447 c.1104C>T c.(1102-1104)acC>acT p.T368T GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Silent_p.T387T|GC_ENST00000513476.1_Silent_p.T368T NM_000583.3|NM_001204306.1 NP_000574.2|NP_001191235.1 P02774 VTDB_HUMAN group-specific component (vitamin D binding protein) 368 Albumin 2. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) GGCTTTTTAGGGTTGGCTCAA 0.383000 17 75 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200946363 200946363 + Silent SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:200946363G>T ENST00000332129.2 - 30 4579 c.4263C>A c.(4261-4263)gcC>gcA p.A1421A KIF21B_ENST00000360529.5_Silent_p.A1421A|KIF21B_ENST00000461742.2_Silent_p.A1434A|KIF21B_ENST00000422435.2_Silent_p.A1434A NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1434 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 AGATGCGGACGGCATTGCCCG 0.637000 36 122 2.75727e-19 4.18697e-19 1 1 0 RELN 5649 broad.mit.edu 37 7 103230058 103230058 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr7:103230058C>A ENST00000424685.2 - 28 4289 c.4130G>T c.(4129-4131)aGg>aTg p.R1377M RELN_ENST00000428762.1_Missense_Mutation_p.R1377M|RELN_ENST00000343529.5_Missense_Mutation_p.R1377M P78509 RELN_HUMAN reelin 1377 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TGCAAGAGACCTTGGAATAAC 0.418000 32 197 8.88839e-20 1.36659e-19 1 1 0 ANKRD30B 374860 broad.mit.edu 37 18 14822608 14822608 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr18:14822608C>A ENST00000358984.4 + 26 2498 c.2318C>A c.(2317-2319)aCc>aAc p.T773N RP11-1157N2__B.2_ENST00000581117.1_RNA NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 858 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 ATTTAGCCTACCTGTGGAATG 0.259000 6 7 8.12818e-05 9.06133e-05 1 1 0 C3AR1 719 broad.mit.edu 37 12 8211736 8211736 + Missense_Mutation SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr12:8211736G>A ENST00000307637.4 - 2 1249 c.1046C>T c.(1045-1047)tCt>tTt p.S349F NM_004054.2 NP_004045.1 Q16581 C3AR_HUMAN complement component 3a receptor 1 349 blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1) 20 Kidney(36;0.0893) CATGATAACAGAGGGCAGCAG 0.498000 19 79 0 0 1 0 0 FGF12 2257 broad.mit.edu 37 3 191861864 191861864 + Silent SNP A A T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr3:191861864A>T ENST00000454309.2 - 5 1491 c.666T>A c.(664-666)cgT>cgA p.R222R FGF12_ENST00000450716.1_Silent_p.R160R|FGF12_ENST00000264730.3_Silent_p.R160R|FGF12_ENST00000445105.1_Silent_p.R160R|FGF12_ENST00000430714.1_Silent_p.R123R NM_021032.4 NP_066360.1 P61328 FGF12_HUMAN fibroblast growth factor 12 222 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) TTTTCCTTGAACGCCCTTGTT 0.398000 59 191 0 0 1 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147276 26147276 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr16:26147276C>A ENST00000331351.5 + 2 1470 c.1078C>A c.(1078-1080)Ctc>Atc p.L360I HS3ST4_ENST00000475436.1_3'UTR NM_006040.2 NP_006031.2 Q9Y661 HS3S4_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 4 360 heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) TGGTGAGCGACTCATTGTGGA 0.498000 11 140 2.80697e-09 3.60897e-09 1 1 0 EPHA3 2042 broad.mit.edu 37 3 89448515 89448515 + Missense_Mutation SNP T T A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr3:89448515T>A ENST00000336596.2 + 7 1704 c.1479T>A c.(1477-1479)aaT>aaA p.N493K EPHA3_ENST00000494014.1_Missense_Mutation_p.N493K|EPHA3_ENST00000452448.2_Missense_Mutation_p.N493K NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 493 Fibronectin type-III 2. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GAGGCACAAATGTTACCATCA 0.413000 TSP Lung(6;0.00050) 26 75 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22383054 22383054 + Silent SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr15:22383054G>A ENST00000328795.4 + 1 673 c.582G>A c.(580-582)gtG>gtA p.V194V RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ACATGTTTGTGGTGGAGCTTC 0.527000 33 153 0 0 1 0 0 ZNF256 10172 broad.mit.edu 37 19 58453703 58453703 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr19:58453703C>A ENST00000282308.3 - 3 669 c.473G>T c.(472-474)aGc>aTc p.S158I ZNF256_ENST00000598928.1_3'UTR NM_005773.2 NP_005764.2 Q9Y2P7 ZN256_HUMAN zinc finger protein 256 158 multicellular organismal development|negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155) AAATGTGCAGCTGCTCAAAAA 0.458000 18 102 9.16793e-09 1.1546e-08 1 1 0 HCN1 348980 broad.mit.edu 37 5 45645613 45645613 + Missense_Mutation SNP A A T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr5:45645613A>T ENST00000303230.4 - 2 580 c.523T>A c.(523-525)Tgg>Agg p.W175R NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 175 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 AAAATAATCCATGGTGTTGTT 0.358000 31 97 0 0 1 0 0 FERD3L 222894 broad.mit.edu 37 7 19184717 19184717 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr7:19184717C>A ENST00000275461.3 - 1 327 c.269G>T c.(268-270)gGc>gTc p.G90V AC003986.5_ENST00000452700.1_RNA NM_152898.2 NP_690862.1 Q96RJ6 FER3L_HUMAN Fer3-like bHLH transcription factor 90 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 35 CTTGGGGCGGCCTAATAGGGA 0.597000 13 22 9.31168e-06 1.06378e-05 1 1 0 HMGXB4 10042 broad.mit.edu 37 22 35661239 35661239 + Silent SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr22:35661239G>T ENST00000216106.5 + 5 986 c.858G>T c.(856-858)ggG>ggT p.G286G HMGXB4_ENST00000444518.2_Silent_p.G177G NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 286 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 ATCTTTCAGGGCTTGAACCTA 0.498000 16 71 0.000422831 0.000461612 1 1 0 ITGAX 3687 broad.mit.edu 37 16 31373193 31373193 + Missense_Mutation SNP A A T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr16:31373193A>T ENST00000268296.4 + 10 1170 c.1049A>T c.(1048-1050)gAg>gTg p.E350V ITGAX_ENST00000562522.1_Missense_Mutation_p.E350V NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 350 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 TTCGAATTGGAGATGGCACAG 0.622000 36 135 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64427875 64427875 + Missense_Mutation SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr11:64427875G>A ENST00000265459.6 - 11 2779 c.2318C>T c.(2317-2319)aCt>aTt p.T773I NRXN2_ENST00000409571.1_Missense_Mutation_p.T766I|NRXN2_ENST00000377551.1_Missense_Mutation_p.T773I|NRXN2_ENST00000377559.3_Missense_Mutation_p.T742I NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 773 Laminin G-like 4. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CTCCCTGGAAGTGGTGGCCAT 0.597000 24 57 0 0 1 0 0 SLC9A6 10479 broad.mit.edu 37 X 135106602 135106602 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chrX:135106602G>T ENST00000370695.4 + 12 1611 c.1576G>T c.(1576-1578)Ggt>Tgt p.G526C SLC9A6_ENST00000370698.3_Missense_Mutation_p.G494C|SLC9A6_ENST00000370701.1_Missense_Mutation_p.G474C NM_001042537.1 NP_001036002.1 Q92581 SL9A6_HUMAN solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 494 regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) GTGGGTATTTGGTGGTGGCAC 0.408000 36 57 1.00001e-27 1.70047e-27 1 1 0 OR51I2 390064 broad.mit.edu 37 11 5475624 5475624 + Silent SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr11:5475624C>A ENST00000341449.2 + 1 987 c.906C>A c.(904-906)gcC>gcA p.A302A HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCCGCCGAGCCATTTTCCGCA 0.433000 26 171 3.28513e-13 4.66235e-13 1 1 0 TYR 7299 broad.mit.edu 37 11 88924525 88924525 + Silent SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr11:88924525C>A ENST00000263321.5 + 2 1477 c.975C>A c.(973-975)acC>acA p.T325T TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 325 T -> A (in OCA1B). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) TGAGTTTGACCCAATATGAAT 0.418000 50 153 7.34454e-26 1.22631e-25 1 1 0 SPATA31D1 389763 broad.mit.edu 37 9 84607902 84607902 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr9:84607902G>T ENST00000344803.2 + 4 2564 c.2517G>T c.(2515-2517)gaG>gaT p.E839D NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 AGAAATTTGAGGAAATCAATG 0.443000 21 108 4.35082e-09 5.57448e-09 1 1 0 ERBB2IP 55914 broad.mit.edu 37 5 65334267 65334267 + Silent SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr5:65334267G>A ENST00000284037.5 + 15 1652 c.1263G>A c.(1261-1263)gtG>gtA p.V421V ERBB2IP_ENST00000506030.1_Silent_p.V421V|ERBB2IP_ENST00000380938.2_Silent_p.V421V|ERBB2IP_ENST00000380939.2_Silent_p.V421V|ERBB2IP_ENST00000380935.1_Silent_p.V421V|ERBB2IP_ENST00000508515.1_Silent_p.V421V|ERBB2IP_ENST00000380936.1_Silent_p.V421V|ERBB2IP_ENST00000380943.2_Silent_p.V421V|ERBB2IP_ENST00000511297.1_Silent_p.V421V|ERBB2IP_ENST00000416865.2_Intron NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 421 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) AGAAAATGGTGCTTACCAACT 0.358000 27 96 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54805230 54805230 + Silent SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr6:54805230C>A ENST00000306858.7 + 5 1577 c.1461C>A c.(1459-1461)acC>acA p.T487T NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 487 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TTGAACATACCACAAAGTCAT 0.408000 44 128 4.10826e-27 6.95389e-27 1 1 0 PSG5 5673 broad.mit.edu 37 19 43680055 43680055 + Missense_Mutation SNP T T G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr19:43680055T>G ENST00000404580.1 - 3 764 c.676A>C c.(676-678)Atg>Ctg p.M226L PSG5_ENST00000599812.1_Missense_Mutation_p.M319L|PSG5_ENST00000366175.3_Missense_Mutation_p.M226L|PSG5_ENST00000342951.6_Missense_Mutation_p.M226L|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Missense_Mutation_p.M226L Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 226 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) TCACTGCGCATGCCACCATCT 0.493000 43 209 0 0 1 0 0 C12orf66 144577 broad.mit.edu 37 12 64588290 64588290 + Nonsense_Mutation SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr12:64588290G>A ENST00000311915.8 - 3 697 c.670C>T c.(670-672)Cag>Tag p.Q224* C12orf66_ENST00000398055.3_Nonsense_Mutation_p.Q224*|C12orf66_ENST00000544871.1_Nonsense_Mutation_p.Q171* Q96MD2 CL066_HUMAN chromosome 12 open reading frame 66 224 central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1) 5 CCCCACGTCTGCAGTTTGGTG 0.532000 13 69 0 0 1 0 0 OLFML2B 25903 broad.mit.edu 37 1 161967618 161967618 + Missense_Mutation SNP T T C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:161967618T>C ENST00000294794.3 - 6 1894 c.1471A>G c.(1471-1473)Ata>Gta p.I491V OLFML2B_ENST00000367940.2_Missense_Mutation_p.I492V NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 491 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) AACTTACCTATGACATTCCGG 0.547000 42 416 0 0 1 0 0 GUCA1A 2978 broad.mit.edu 37 6 42146129 42146129 + Missense_Mutation SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr6:42146129G>A ENST00000394237.1 + 4 1289 c.313G>A c.(313-315)Ggc>Agc p.G105S GUCA1A_ENST00000053469.4_Missense_Mutation_p.G105S|GUCA1A_ENST00000372958.1_Missense_Mutation_p.G105S|GUCA1A_ENST00000541991.1_Missense_Mutation_p.G105S P43080 GUC1A_HUMAN guanylate cyclase activator 1A (retina) 105 EF-hand 3. signal transduction|visual perception membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 7 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AGATGGCAACGGCTGCATTGA 0.607000 18 134 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75806981 75806981 + Silent SNP T T C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr6:75806981T>C ENST00000322507.8 - 59 8874 c.8565A>G c.(8563-8565)ccA>ccG p.P2855P COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000483888.2_Silent_p.P2855P|COL12A1_ENST00000416123.2_Silent_p.P2779P|COL12A1_ENST00000345356.6_Silent_p.P1691P NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2855 Triple-helical region (COL2) with 1 imperfection. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GCGGCCCTGGTGGGCCCCTGG 0.468000 16 67 0 0 1 0 0 MPPED2 744 broad.mit.edu 37 11 30601896 30601896 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr11:30601896C>A ENST00000448418.2 - 2 385 c.25G>T c.(25-27)Ggc>Tgc p.G9C MPPED2_ENST00000358117.5_Missense_Mutation_p.G9C NM_001145399.1 NP_001138871.1 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 9 nervous system development hydrolase activity|metal ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2) 33 GTAACTTTGCCTTGAGAAGGA 0.493000 13 87 0.00136819 0.00147191 1 1 0 MCM4 4173 broad.mit.edu 37 8 48874637 48874637 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr8:48874637G>T ENST00000262105.2 + 3 469 c.260G>T c.(259-261)aGt>aTt p.S87I MCM4_ENST00000523944.1_Missense_Mutation_p.S87I NM_005914.3 NP_005905.2 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 87 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 MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) TTTGATGTTAGTTCACCACTG 0.468000 13 89 4.36969e-10 5.77927e-10 1 1 0 ADCY8 114 broad.mit.edu 37 8 131955652 131955652 + Missense_Mutation SNP T T A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr8:131955652T>A ENST00000286355.5 - 4 3390 c.1298A>T c.(1297-1299)cAg>cTg p.Q433L RP11-737F9.1_ENST00000523318.1_RNA|ADCY8_ENST00000377928.3_Missense_Mutation_p.Q433L NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 433 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) GACCAGCTCCTGAGCAGACAA 0.483000 HNSCC(32;0.087) 13 63 0 0 1 0 0 LARS 51520 broad.mit.edu 37 5 145537026 145537026 + Silent SNP T T A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr5:145537026T>A ENST00000394434.2 - 10 1171 c.1005A>T c.(1003-1005)tcA>tcT p.S335S LARS_ENST00000511505.1_5'UTR|LARS_ENST00000545646.1_Silent_p.S289S|LARS_ENST00000510191.1_Silent_p.S281S|LARS_ENST00000274562.9_Silent_p.S308S NM_020117.9 NP_064502.9 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 335 Editing domain. leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) AGCCCTGGTATGACATATTCC 0.393000 19 99 0 0 1 0 0 KEAP1 9817 broad.mit.edu 37 19 10597491 10597491 + Missense_Mutation SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr19:10597491C>T ENST00000171111.5 - 6 2259 c.1712G>A c.(1711-1713)gGc>gAc p.G571D KEAP1_ENST00000393623.2_Missense_Mutation_p.G571D NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 571 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) ACCATCATAGCCTCCTGCGGG 0.562000 14 47 0 0 1 0 0 EEF1E1 9521 broad.mit.edu 37 6 8080245 8080245 + Missense_Mutation SNP C C G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr6:8080245C>G ENST00000379715.5 - 4 459 c.403G>C c.(403-405)Gaa>Caa p.E135Q EEF1E1-MUTED_ENST00000397456.2_Intron|EEF1E1_ENST00000429723.2_Intron NM_004280.4 NP_004271.1 O43324 MCA3_HUMAN eukaryotic translation elongation factor 1 epsilon 1 135 GST C-terminal. negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation cytosol|nucleus endometrium(1)|prostate(1) 2 Ovarian(93;0.0398) TTCTCCTTTTCTTGAACTGTC 0.373000 29 116 0 0 1 0 0 FBXW12 285231 broad.mit.edu 37 3 48415121 48415121 + Missense_Mutation SNP A A G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr3:48415121A>G ENST00000296438.5 + 4 398 c.212A>G c.(211-213)cAt>cGt p.H71R FBXW12_ENST00000415155.1_Missense_Mutation_p.H71R|FBXW12_ENST00000436231.1_Intron|FBXW12_ENST00000445170.1_Missense_Mutation_p.H52R NM_207102.2 NP_996985.2 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 71 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TTTTTCCTGCATCAAAGAAGG 0.468000 25 87 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121881901 121881901 + Missense_Mutation SNP C C G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr12:121881901C>G ENST00000377069.4 - 16 2678 c.2272G>C c.(2272-2274)Ggc>Cgc p.G758R KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.G789R|KDM2B_ENST00000542973.1_Missense_Mutation_p.G157R NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 789 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 CGCAGAAGGCCGTCCGGCGGC 0.632000 OREG0022201 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 128 0 0 1 0 0 RCBTB2 1102 broad.mit.edu 37 13 49086961 49086961 + Missense_Mutation SNP T T G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr13:49086961T>G ENST00000344532.3 - 7 843 c.420A>C c.(418-420)ttA>ttC p.L140F RCBTB2_ENST00000430805.2_Missense_Mutation_p.L145F|RCBTB2_ENST00000481144.1_5'UTR|RCBTB2_ENST00000544904.1_Missense_Mutation_p.L116F|RCBTB2_ENST00000544492.1_Intron NM_001268.2 NP_001259.1 O95199 RCBT2_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 140 Ran guanyl-nucleotide exchange factor activity breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) GACAGGGCACTAAACCATGAT 0.403000 8 107 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73849914 73849914 + Missense_Mutation SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr11:73849914G>A ENST00000334126.7 - 5 1032 c.806C>T c.(805-807)tCt>tTt p.S269F C2CD3_ENST00000539061.1_Missense_Mutation_p.S269F|C2CD3_ENST00000313663.7_Missense_Mutation_p.S269F Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 269 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) CAGAGTTACAGACTCTAAACT 0.443000 6 93 0 0 1 0 0 FPR3 2359 broad.mit.edu 37 19 52327394 52327394 + Silent SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr19:52327394C>A ENST00000339223.4 + 2 572 c.393C>A c.(391-393)gcC>gcA p.A131A FPR3_ENST00000595991.1_Silent_p.A131A NM_002030.3 NP_002021.3 P25089 FPR3_HUMAN formyl peptide receptor 3 131 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 TGCATCCAGCCTGGGCCCAGA 0.473000 11 99 1.58986e-06 1.86834e-06 1 1 0 TLR6 10333 broad.mit.edu 37 4 38830296 38830296 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr4:38830296C>A ENST00000436693.2 - 2 918 c.799G>T c.(799-801)Gtc>Ttc p.V267F TLR6_ENST00000381950.1_Missense_Mutation_p.V267F NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 267 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AAGACTCTGACCAGGCATTTC 0.338000 11 62 0.11911 0.122087 1 1 0 RIC8A 60626 broad.mit.edu 37 11 209578 209578 + Missense_Mutation SNP G G C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr11:209578G>C ENST00000526104.1 + 3 1648 c.304G>C c.(304-306)Gag>Cag p.E102Q RIC8A_ENST00000527696.1_Missense_Mutation_p.E96Q|RIC8A_ENST00000325207.5_Missense_Mutation_p.E102Q Q9NPQ8 RIC8A_HUMAN RIC8 guanine nucleotide exchange factor A 102 cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1) 13 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) CTCTGTCTCTGAGGGGTCCGT 0.617000 6 56 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40854201 40854201 + Missense_Mutation SNP G G C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr5:40854201G>C ENST00000254691.5 + 3 2966 c.2767G>C c.(2767-2769)Ggg>Cgg p.G923R CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 923 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 GACACAAGGTGGGGCTTCAAA 0.502000 14 179 0 0 1 0 0 INSC 387755 broad.mit.edu 37 11 15197534 15197534 + Silent SNP C C A rs141502743 by1000genomes TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr11:15197534C>A ENST00000379554.3 + 3 491 c.445C>A c.(445-447)Cgg>Agg p.R149R INSC_ENST00000525218.1_Silent_p.R102R|INSC_ENST00000528567.1_Silent_p.R102R|INSC_ENST00000379556.3_Silent_p.R102R|INSC_ENST00000530161.1_Silent_p.R102R|INSC_ENST00000424273.1_Silent_p.R102R NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 149 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 CCGCTGGGCACGGGTGCACAG 0.632000 3 19 6.4e-05 7.15636e-05 1 1 0 OR51G1 79324 broad.mit.edu 37 11 4944834 4944834 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr11:4944834G>T ENST00000321961.2 - 1 803 c.736C>A c.(736-738)Cat>Aat p.H246N MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005237.1 NP_001005237.1 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, member 1 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GCACAGATATGAGAGACACAG 0.542000 24 93 2.89027e-11 3.96472e-11 1 1 0 WNT3A 89780 broad.mit.edu 37 1 228210487 228210487 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:228210487C>A ENST00000284523.1 + 2 269 c.191C>A c.(190-192)cCc>cAc p.P64H WNT3A_ENST00000366753.2_Missense_Mutation_p.P64H NM_033131.3 NP_149122.1 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 64 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) GAGATCATGCCCAGCGTGGCC 0.652000 16 72 3.52763e-06 4.0678e-06 1 1 0 NRDE2 55051 broad.mit.edu 37 14 90782961 90782961 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr14:90782961C>A ENST00000354366.3 - 3 600 c.368G>T c.(367-369)aGa>aTa p.R123I NRDE2_ENST00000357904.3_Intron|NRDE2_ENST00000557106.1_5'UTR NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing TCCAACGCCTCTGGAAGGTTT 0.448000 72 259 4.03997e-35 7.09881e-35 1 1 0 KLHL1 57626 broad.mit.edu 37 13 70681368 70681368 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr13:70681368G>T ENST00000377844.4 - 1 1223 c.464C>A c.(463-465)tCt>tAt p.S155Y ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_Missense_Mutation_p.S23Y NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 155 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TGCCTGGCTAGAGTTGTCTGG 0.542000 43 127 2.56175e-15 3.75113e-15 1 1 0 EPB41L3 23136 broad.mit.edu 37 18 5398034 5398034 + Nonsense_Mutation SNP G G A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr18:5398034G>A ENST00000341928.2 - 17 2798 c.2458C>T c.(2458-2460)Caa>Taa p.Q820* EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.Q820*|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.Q651*|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000542146.1_Nonsense_Mutation_p.Q125*|EPB41L3_ENST00000427684.2_Nonsense_Mutation_p.Q117*|EPB41L3_ENST00000540638.2_Intron NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 820 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity p.Q820E(1) breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 ACCCAGCTTTGAGAAGTAGAA 0.463000 31 230 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212587160 212587160 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:212587160C>A ENST00000342788.4 - 7 1151 c.841G>T c.(841-843)Gca>Tca p.A281S ERBB4_ENST00000402597.1_Missense_Mutation_p.A281S|ERBB4_ENST00000436443.1_Missense_Mutation_p.A281S NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 281 Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GTGTACTTTGCATTGAAATTG 0.373000 TSP Lung(8;0.080) 14 56 1.3612e-06 1.60988e-06 1 1 0 PASK 23178 broad.mit.edu 37 2 242066565 242066565 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:242066565C>A ENST00000403638.3 - 10 1856 c.1765G>T c.(1765-1767)Ggg>Tgg p.G589W PASK_ENST00000544142.1_Missense_Mutation_p.G403W|PASK_ENST00000539818.1_Missense_Mutation_p.G373W|PASK_ENST00000358649.4_Missense_Mutation_p.G589W|PASK_ENST00000234040.4_Missense_Mutation_p.G589W|PASK_ENST00000405260.1_Missense_Mutation_p.G589W NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 589 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) ACGGCAGCCCCAGCCCAAAGG 0.652000 11 84 0.00829132 0.00876647 1 1 0 OR2J2 26707 broad.mit.edu 37 6 29141463 29141463 + Silent SNP A A G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr6:29141463A>G ENST00000377167.2 + 1 153 c.51A>G c.(49-51)ggA>ggG p.G17G NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 TTCTACTTGGATTTTCTAATT 0.353000 10 214 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C G rs121913529 TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr12:25398284C>G ENST00000311936.3 - 2 226 c.35G>C c.(34-36)gGt>gCt p.G12A KRAS_ENST00000256078.4_Missense_Mutation_p.G12A|KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 11 40 0 0 1 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51957991 51957991 + Silent SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr19:51957991C>A ENST00000321424.3 - 5 1161 c.1095G>T c.(1093-1095)ggG>ggT p.G365G SIGLEC8_ENST00000340550.5_Silent_p.G272G|SIGLEC8_ENST00000430817.1_Silent_p.G256G NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 365 cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CTCCAGCTCCCCCGACTGCTG 0.562000 17 89 6.94344e-10 9.15047e-10 1 1 0 MYO5A 4644 broad.mit.edu 37 15 52672056 52672056 + Nonsense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr15:52672056C>A ENST00000399231.3 - 17 2305 c.2062G>T c.(2062-2064)Gaa>Taa p.E688* MYO5A_ENST00000399233.2_Nonsense_Mutation_p.E688*|MYO5A_ENST00000356338.6_Nonsense_Mutation_p.E688*|MYO5A_ENST00000553916.1_Nonsense_Mutation_p.E688*|MYO5A_ENST00000358212.6_Nonsense_Mutation_p.E688* NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 688 Myosin head-like. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) CGGATGGTTTCCAGGACACCA 0.488000 47 79 1.67211e-32 2.92421e-32 1 1 0 HMCN1 83872 broad.mit.edu 37 1 186113753 186113753 + Silent SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:186113753C>T ENST00000271588.4 + 91 14413 c.14184C>T c.(14182-14184)tcC>tcT p.S4728S HMCN1_ENST00000367492.2_Silent_p.S4728S NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4728 TSP type-1 4. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GGGGCTGCTCCGACCCTGTGC 0.537000 12 206 0 0 1 0 0 C6orf203 51250 broad.mit.edu 37 6 107361034 107361034 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr6:107361034G>T ENST00000443043.1 + 3 760 c.85G>T c.(85-87)Ggt>Tgt p.G29C C6orf203_ENST00000405204.2_Missense_Mutation_p.G24C|C6orf203_ENST00000311381.5_Missense_Mutation_p.G24C NM_001142470.1 NP_001135942.1 Q9P0P8 CF203_HUMAN chromosome 6 open reading frame 203 24 large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1) 8 Breast(9;0.00124)|all_epithelial(6;0.0729) all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23) BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244) BRCA - Breast invasive adenocarcinoma(108;0.117) TGGACTCTGGGGTGTTCTCCG 0.408000 29 91 1.7881e-09 2.30703e-09 1 1 0 MPEG1 219972 broad.mit.edu 37 11 58978579 58978579 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr11:58978579G>T ENST00000361050.3 - 1 1845 c.1760C>A c.(1759-1761)tCc>tAc p.S587Y NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 587 integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) AGGGGGCAGGGACCCTCCTGT 0.592000 21 170 1.28384e-07 1.54312e-07 1 1 0 PLG 5340 broad.mit.edu 37 6 161134115 161134115 + Missense_Mutation SNP C C A rs143256245 byFrequency TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr6:161134115C>A ENST00000308192.9 + 5 568 c.505C>A c.(505-507)Cca>Aca p.P169T PLG_ENST00000462918.1_3'UTR NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 169 Kringle 1. 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) TACTACTGATCCAGAAAAGAG 0.468000 22 167 3.28513e-13 4.66235e-13 1 1 0 P2RY10 27334 broad.mit.edu 37 X 78216671 78216671 + Silent SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chrX:78216671C>A ENST00000171757.2 + 4 934 c.654C>A c.(652-654)acC>acA p.T218T P2RY10_ENST00000544091.1_Silent_p.T218T NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 218 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 CATGGTGTACCTGGAAAACTA 0.478000 37 31 2.87052e-16 4.23689e-16 1 1 0 KLHL34 257240 broad.mit.edu 37 X 21674670 21674670 + Nonsense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chrX:21674670C>A ENST00000379499.2 - 1 1778 c.1237G>T c.(1237-1239)Gaa>Taa p.E413* NM_153270.1 NP_695002.1 Q8N239 KLH34_HUMAN kelch-like family member 34 413 cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 GCCCGCGCTTCCCGCATGGCG 0.716000 5 2 0.014758 0.0152969 1 1 0 GIMAP6 474344 broad.mit.edu 37 7 150325274 150325274 + Missense_Mutation SNP C C T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr7:150325274C>T ENST00000328902.5 - 3 628 c.412G>A c.(412-414)Gag>Aag p.E138K GIMAP6_ENST00000493969.1_Silent_p.*63* NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 138 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGCTGATCCTCATCCGTGAAC 0.642000 34 94 0 0 1 0 0 SMYD1 150572 broad.mit.edu 37 2 88367508 88367508 + Missense_Mutation SNP T T A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:88367508T>A ENST00000419482.2 + 1 210 c.125T>A c.(124-126)gTg>gAg p.V42E SMYD1_ENST00000444564.2_Missense_Mutation_p.V42E|SMYD1_ENST00000438570.1_Missense_Mutation_p.V42E NM_198274.3 NP_938015.1 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 42 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 TATTCCGCAGTGGTTTTTGAC 0.502000 22 134 0 0 1 0 0 LGR5 8549 broad.mit.edu 37 12 71974078 71974078 + Missense_Mutation SNP C C A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr12:71974078C>A ENST00000266674.5 + 16 1738 c.1427C>A c.(1426-1428)gCt>gAt p.A476D LGR5_ENST00000540815.2_Missense_Mutation_p.A452D|LGR5_ENST00000536515.1_Missense_Mutation_p.A404D O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 476 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 ATGCCTTATGCTTACCAGTGC 0.343000 64 202 5.45122e-27 9.18494e-27 1 1 0 RBMXL2 27288 broad.mit.edu 37 11 7111281 7111281 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr11:7111281G>T ENST00000306904.5 + 1 1117 c.930G>T c.(928-930)gaG>gaT p.E310D NM_014469.4 NP_055284.3 O75526 HNRGT_HUMAN RNA binding motif protein, X-linked-like 2 310 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCTACGAGGAGTACCGGGGCT 0.687000 7 28 2.17888e-05 2.45873e-05 1 1 0 C3orf58 205428 broad.mit.edu 37 3 143704407 143704407 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr3:143704407G>T ENST00000315691.3 + 2 1215 c.680G>T c.(679-681)tGg>tTg p.W227L C3orf58_ENST00000495414.1_Missense_Mutation_p.W18L|C3orf58_ENST00000441925.2_5'UTR|C3orf58_ENST00000493396.1_Intron NM_173552.3 NP_775823.1 Q8NDZ4 CC058_HUMAN chromosome 3 open reading frame 58 227 COPI vesicle coat|extracellular region breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GATGAAGGTTGGCCATTTGCA 0.378000 28 155 6.07407e-21 9.41737e-21 1 1 0 IGHMBP2 3508 broad.mit.edu 37 11 68673583 68673583 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr11:68673583G>T ENST00000255078.3 + 2 244 c.133G>T c.(133-135)Gtg>Ttg p.V45L IGHMBP2_ENST00000539224.1_Missense_Mutation_p.V45L NM_002180.2 NP_002171.2 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 45 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GAGCCGAGGCGTGTGTTTGCT 0.567000 30 96 3.65163e-15 5.30492e-15 1 1 0 PTCHD4 442213 broad.mit.edu 37 6 47846497 47846497 + Missense_Mutation SNP T T C TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr6:47846497T>C ENST00000339488.4 - 3 2116 c.2083A>G c.(2083-2085)Att>Gtt p.I695V NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 695 integral to membrane hedgehog receptor activity CCCAGCTCAATTGAGGTGACG 0.448000 18 51 0 0 1 0 0 RPL5 6125 broad.mit.edu 37 1 93299218 93299221 + Splice_Site DEL GTAA GTAA - TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr1:93299218_93299221delGTAA ENST00000370321.3 + 3 279 c.e3+1 NM_000969.3 NP_000960.2 P46777 RL5_HUMAN ribosomal protein L5 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) CATTTGTCAGGTAAGTTGTATTCT 0.397 16 47 --- --- --- --- ATL2 64225 broad.mit.edu 37 2 38525341 38525353 + Frame_Shift_Del DEL TCCCCAGAGTATT TCCCCAGAGTATT - rs143133196 by1000genomes TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr2:38525341_38525353delTCCCCAGAGTATT ENST00000378954.4 - 12 1566_1578 c.1565_1577delAATACTCTGGGGA c.(1564-1578)agfs p.KYSGE522fs ATL2_ENST00000539122.1_Frame_Shift_Del_p.KYSGE351fs|ATL2_ENST00000546051.1_Frame_Shift_Del_p.KYSGE351fs|ATL2_ENST00000406122.1_Frame_Shift_Del_p.KYSGE351fs|ATL2_ENST00000419554.2_Frame_Shift_Del_p.KYSGE522fs|ATL2_ENST00000402054.1_Frame_Shift_Del_p.KYSGE351fs|ATL2_ENST00000452935.2_Frame_Shift_Del_p.KYSGE504fs|ATL2_ENST00000332337.4_Frame_Shift_Del_p.KYSGE504fs NM_001135673.1|NM_022374.2 NP_001129145.1|NP_071769.2 Q8NHH9 ATLA2_HUMAN atlastin GTPase 2 522 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 TTCTCTGAACTCCCCAGAGTATTTAACATATGC 0.390 9 116 --- --- --- --- SLC33A1 9197 broad.mit.edu 37 3 155571742 155571742 + Frame_Shift_Del DEL C C - TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr3:155571742delC ENST00000392845.2 - 1 425 c.45delG c.(43-45)cgfs p.R15fs SLC33A1_ENST00000359479.3_Frame_Shift_Del_p.R15fs NM_004733.3 NP_004724.1 O00400 ACATN_HUMAN solute carrier family 33 (acetyl-CoA transporter), member 1 15 cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 22 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AATTCCCTGGCCGCCGTTGCC 0.617 7 42 --- --- --- --- CWH43 80157 broad.mit.edu 37 4 48996685 48996685 + Frame_Shift_Del DEL G G - TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr4:48996685delG ENST00000226432.4 + 5 744 c.561delG c.(559-561)acfs p.T187fs CWH43_ENST00000513409.1_Frame_Shift_Del_p.T160fs NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 187 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 AGGTAGCCACGGGGATGGCCT 0.443 31 130 --- --- --- --- SRP72 6731 broad.mit.edu 37 4 57333827 57333836 + Frame_Shift_Del DEL TGTCAGTACC TGTCAGTACC - TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr4:57333827_57333836delTGTCAGTACC ENST00000342756.5 + 1 747_756 c.26_35delTGTCAGTACC c.(25-36)gtfs p.VSVP9fs SRP72_ENST00000510663.1_Frame_Shift_Del_p.VSVP9fs|SRP72_ENST00000504757.1_Frame_Shift_Del_p.VSVP9fs NM_006947.3 NP_008878.3 O76094 SRP72_HUMAN signal recognition particle 72kDa 9 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2) 22 Glioma(25;0.08)|all_neural(26;0.101) AGCGGGGGGGTGTCAGTACCTGCGCTGTGG 0.657 7 28 --- --- --- --- CCT6P1 643253 broad.mit.edu 37 7 65226819 65226819 + RNA DEL A A - TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr7:65226819delA ENST00000442266.1 + 0 1167 AATGGGGACCAAAAAAAAAAT 0.353 2 4 --- --- --- --- TAF1L 138474 broad.mit.edu 37 9 32635575 32635575 + Translation_Start_Site DEL C C - TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr9:32635575delC ENST00000242310.4 - 0 92 RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AGCCGGGTCGCATAAACCGGA 0.572 22 46 --- --- --- --- VWA2 340706 broad.mit.edu 37 10 116032616 116032616 + Frame_Shift_Del DEL G G - TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr10:116032616delG ENST00000603594.1 + 6 810 c.489delG c.(487-489)cafs p.Q163fs VWA2_ENST00000392982.3_Frame_Shift_Del_p.Q163fs NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 163 VWFA 1. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) GGAAGTCCCAGGGGGATGTGG 0.557 20 55 --- --- --- --- ACSS3 79611 broad.mit.edu 37 12 81532956 81532956 + Frame_Shift_Del DEL G G - TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr12:81532956delG ENST00000548058.1 + 4 1602 c.692delG c.(691-693)agfs p.R231fs ACSS3_ENST00000261206.3_Frame_Shift_Del_p.R230fs Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 231 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 CCTGGAAGGAGGGTAGAGTAC 0.348 14 79 --- --- --- --- ADAM10 102 broad.mit.edu 37 15 58919977 58919978 + Frame_Shift_Ins INS - - A TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr15:58919977_58919978insA ENST00000260408.3 - 10 1724_1725 c.1281_1282insT c.(1279-1284)ctacaafs p.Q428fs ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Frame_Shift_Ins_p.Q127fs NM_001110.2 NP_001101.1 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 428 Peptidase M12B. cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) TTATTGTTGTTAAGTTTGTCCC 0.347 18 73 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 7 372 --- --- --- --- SLC6A10P 386757 broad.mit.edu 37 16 32893251 32893251 + RNA DEL C C - TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr16:32893251delC ENST00000330048.5 - 0 1563 NR_003083.2 GAGCCACCCTCCCCCCTGCAT 0.597 2 4 --- --- --- --- LILRB4 11006 broad.mit.edu 37 19 55175253 55175254 + Frame_Shift_Ins INS - - T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9B923607-B58E-4215-9906-8CFA6301B887 212989CB-BF24-4B7B-AF52-BBBC977FA035 g.chr19:55175253_55175254insT ENST00000391736.1 + 5 427_428 c.112_113insT c.(112-114)gatfs p.D38fs LILRB4_ENST00000391734.3_Frame_Shift_Ins_p.D38fs|LILRB4_ENST00000430952.2_Frame_Shift_Ins_p.D38fs|LILRB4_ENST00000270452.2_Frame_Shift_Ins_p.D38fs|LILRB4_ENST00000391733.3_Frame_Shift_Ins_p.D38fs NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 38 Ig-like C2-type 1. integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GCCAGGCTCTGTGATCAGCTGG 0.604 30 100 --- --- --- ---