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 PTPRJ 5795 broad.mit.edu 37 11 48145321 48145321 + Missense_Mutation SNP A A G TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr11:48145321A>G ENST00000418331.2 + 5 1125 c.773A>G c.(772-774)aAt>aGt p.N258S PTPRJ_ENST00000440289.2_Missense_Mutation_p.N258S NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 258 Fibronectin type-III 2. 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 CTTCAGGTCAATATCTCGGGC 0.502000 26 32 0 0 9.22233e-05 0 0 CXorf66 347487 broad.mit.edu 37 X 139038753 139038753 + Missense_Mutation SNP C C T rs139549978 TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chrX:139038753C>T ENST00000370540.1 - 3 411 c.388G>A c.(388-390)Gca>Aca p.A130T NM_001013403.2 NP_001013421.1 Q5JRM2 CX066_HUMAN chromosome X open reading frame 66 130 Ser-rich. integral to membrane breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1) 26 CTGGATTGTGCGGATGCCCTT 0.448000 57 65 0 0 0.000147903 0 0 FBXO39 162517 broad.mit.edu 37 17 6683324 6683324 + Nonsense_Mutation SNP G G A TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr17:6683324G>A ENST00000321535.4 + 2 267 c.137G>A c.(136-138)tGg>tAg p.W46* NM_153230.2 NP_694962.1 Q8N4B4 FBX39_HUMAN F-box protein 39 46 F-box. NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 TGCAGAAAGTGGAACCAGATG 0.542000 18 18 0 0 7.07596e-05 0 0 FAM105A 54491 broad.mit.edu 37 5 14602345 14602345 + Silent SNP G G A TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr5:14602345G>A ENST00000274217.3 + 5 522 c.402G>A c.(400-402)agG>agA p.R134R NM_019018.2 NP_061891.1 Q9NUU6 F105A_HUMAN family with sequence similarity 105, member A 134 large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Lung NSC(4;0.00592) GACAAGTAAGGAGAGATAACT 0.358000 21 179 0 0 0.000132079 0 0 RRN3P1 730092 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 4 37 0 0 1.23904e-05 0 0 GPR116 221395 broad.mit.edu 37 6 46847621 46847621 + Missense_Mutation SNP C C T TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr6:46847621C>T ENST00000283296.7 - 9 1258 c.970G>A c.(970-972)Gca>Aca p.A324T GPR116_ENST00000265417.7_Missense_Mutation_p.A324T|GPR116_ENST00000362015.4_Missense_Mutation_p.A324T|GPR116_ENST00000456426.2_Intron NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 324 Ig-like 1. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.A324T(1) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) TTGAAAAGTGCGGTGTAAATC 0.463000 32 63 0 0 8.91981e-05 0 0 OR4C13 283092 broad.mit.edu 37 11 49974394 49974394 + Missense_Mutation SNP C C A TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr11:49974394C>A ENST00000555099.1 + 1 452 c.420C>A c.(418-420)agC>agA p.S140R NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S140S(1) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 ATGTTTGTAGCCTGCTAGTGG 0.468000 28 43 3.1745e-13 3.24592e-11 0.000227799 1 0 ZNF341 84905 broad.mit.edu 37 20 32341106 32341106 + Silent SNP C C T TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr20:32341106C>T ENST00000375200.1 + 5 983 c.618C>T c.(616-618)ccC>ccT p.P206P ZNF341_ENST00000342427.2_Silent_p.P206P Q9BYN7 ZN341_HUMAN zinc finger protein 341 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 GCCTGGGCCCCCCTGGGCGTC 0.692000 11 7 0 0 3.86212e-05 0 0 KCNJ15 3772 broad.mit.edu 37 21 39671704 39671704 + Missense_Mutation SNP G G A TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr21:39671704G>A ENST00000398930.1 + 4 875 c.521G>A c.(520-522)cGg>cAg p.R174Q KCNJ15_ENST00000398938.2_Missense_Mutation_p.R174Q|KCNJ15_ENST00000328656.3_Missense_Mutation_p.R174Q|KCNJ15_ENST00000398932.1_Missense_Mutation_p.R174Q|KCNJ15_ENST00000398934.1_Missense_Mutation_p.R174Q Q99712 IRK15_HUMAN potassium inwardly-rectifying channel, subfamily J, member 15 174 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 CCCAAAAAGCGGGCTGAGACC 0.507000 48 3 0 0 0.000106405 0 0 CTR9 9646 broad.mit.edu 37 11 10791757 10791757 + Splice_Site SNP T T G TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr11:10791757T>G ENST00000361367.2 + 17 2536 c.2109_splice c.e17-1 p.Y704_splice NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component 704 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TTTACTGTAGTATGAAAACTG 0.348000 16 16 0 0 5.01169e-05 0 0 CSMD2 114784 broad.mit.edu 37 1 34033216 34033216 + Missense_Mutation SNP G G A TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr1:34033216G>A ENST00000373381.4 - 53 8533 c.8357C>T c.(8356-8358)tCg>tTg p.S2786L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2763 Sushi 19. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGTCTTGCCCGACCAGTGATG 0.522000 46 2 0 0 0.000147903 0 0 CBLB 868 broad.mit.edu 37 3 105421139 105421139 + Silent SNP C C T TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr3:105421139C>T ENST00000264122.4 - 12 2079 c.1758G>A c.(1756-1758)ccG>ccA p.P586P CBLB_ENST00000394027.3_Silent_p.P608P|CBLB_ENST00000405772.1_Silent_p.P586P|CBLB_ENST00000403724.1_Silent_p.P586P NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 586 Pro-rich. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 GAGGCATTGGCGGGTCTCTGG 0.542000 Mis S AML 10 29 0 0 3.86212e-05 0 0 ZNF589 51385 broad.mit.edu 37 3 48309500 48309500 + Missense_Mutation SNP A A G TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr3:48309500A>G ENST00000354698.3 + 4 391 c.319A>G c.(319-321)Att>Gtt p.I107V ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000440261.2_Missense_Mutation_p.I106V|ZNF589_ENST00000427617.2_Intron NM_016089.2 NP_057173.2 Q86UQ0 ZN589_HUMAN zinc finger protein 589 107 KRAB. regulation of transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CAATCATCCTATTCCAGGTTT 0.507000 15 36 0 0 3.45872e-05 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47614759 47614759 + Missense_Mutation SNP G G A TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr20:47614759G>A ENST00000371917.4 + 24 3251 c.3251G>A c.(3250-3252)gGa>gAa p.G1084E ARFGEF2_ENST00000493140.1_3'UTR NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1084 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) AGACTGGATGGAAATGCAATA 0.448000 16 18 0 0 0.000132079 0 0 TBC1D15 64786 broad.mit.edu 37 12 72307701 72307701 + Nonsense_Mutation SNP C C T TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr12:72307701C>T ENST00000550746.1 + 13 1511 c.1447C>T c.(1447-1449)Caa>Taa p.Q483* TBC1D15_ENST00000485960.2_Nonsense_Mutation_p.Q466*|TBC1D15_ENST00000548679.1_3'UTR|TBC1D15_ENST00000319106.8_Nonsense_Mutation_p.Q474*|TBC1D15_ENST00000393309.3_Nonsense_Mutation_p.Q237* NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 483 Rab-GAP TBC. protein binding|Rab GTPase activator activity NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TTACATGGACCAAATGGTAAG 0.308000 573 565 0 0 0.000147903 0 0 SASH1 23328 broad.mit.edu 37 6 148865579 148865579 + Silent SNP G G A TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr6:148865579G>A ENST00000367467.3 + 18 3448 c.2973G>A c.(2971-2973)aaG>aaA p.K991K NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 991 Pro-rich. protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) CTGCCAAAAAGAGCAGAGAAC 0.587000 40 45 0 0 0.000125731 0 0 PASK 23178 broad.mit.edu 37 2 242063523 242063523 + Silent SNP C C A TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr2:242063523C>A ENST00000403638.3 - 11 2836 c.2745G>T c.(2743-2745)gtG>gtT p.V915V PASK_ENST00000234040.4_Silent_p.V915V|PASK_ENST00000539818.1_Silent_p.V699V|PASK_ENST00000544142.1_Silent_p.V729V|PASK_ENST00000405260.1_Silent_p.V915V|PASK_ENST00000358649.4_Silent_p.V915V NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 915 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) CCTGGAGCTCCACCCGCCTCA 0.587000 4 7 3.59834e-05 0.00343401 3.59834e-05 1 0 CACNA1S 779 broad.mit.edu 37 1 201047108 201047108 + Silent SNP G G A TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr1:201047108G>A ENST00000362061.3 - 11 1744 c.1518C>T c.(1516-1518)agC>agT p.S506S CACNA1S_ENST00000367338.3_Silent_p.S506S NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 506 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CCAGGATACCGCTACACACCA 0.577000 16 29 0 0 3.45872e-05 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525708 176525708 + Missense_Mutation SNP G G A TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr1:176525708G>A ENST00000367662.3 + 2 1414 c.250G>A c.(250-252)Gtg>Atg p.V84M PAPPA2_ENST00000367661.3_Missense_Mutation_p.V84M NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 84 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GCCCTACCCCGTGGGGGAGCA 0.562000 58 58 0 0 0.000147903 0 0 CIITA 4261 broad.mit.edu 37 16 11009480 11009480 + Missense_Mutation SNP C C T TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr16:11009480C>T ENST00000324288.8 + 14 3075 c.2942C>T c.(2941-2943)aCg>aTg p.T981M CIITA_ENST00000381835.5_Missense_Mutation_p.T397M NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 981 Missing (in BLS2). interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 CGGATCCTCACGGCCTTTTCC 0.582000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 19 31 0 0 0.000229342 0 0 SON 6651 broad.mit.edu 37 21 34924690 34924690 + Silent SNP C C T TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr21:34924690C>T ENST00000356577.4 + 3 3628 c.3153C>T c.(3151-3153)tcC>tcT p.S1051S SON_ENST00000300278.4_Silent_p.S1051S|SON_ENST00000290239.6_Silent_p.S1051S|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Silent_p.S1051S NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 1051 14 X 6 AA repeats of [ED]-R-S-M-M-S. anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 CTATGATGTCCCCTATGGCTG 0.498000 6 104 0 0 3.59834e-05 0 0 CROCCP2 84809 broad.mit.edu 37 1 16945760 16945760 + RNA SNP A A G TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr1:16945760A>G ENST00000412962.1 - 0 1759 AAAAGGGCACAACGGCAGTCA 0.562000 3 13 0 0 2.17888e-05 0 0 FZD4 8322 broad.mit.edu 37 11 86662335 86662335 + Missense_Mutation SNP C C T rs80358298 TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr11:86662335C>T ENST00000531380.1 - 2 1768 c.1463G>A c.(1462-1464)gGc>gAc p.G488D PRSS23_ENST00000533902.2_3'UTR|PRSS23_ENST00000531521.1_3'UTR NM_012193.3 NP_036325.2 Q9ULV1 FZD4_HUMAN frizzled family receptor 4 488 G -> D (in EVR1). canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway cell projection|cell surface|cytoplasm cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1) 21 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TGAAGTGATGCCCACCAACAA 0.403000 24 33 0 0 3.10358e-05 0 0 TBC1D15 64786 broad.mit.edu 37 12 72307690 72307690 + Missense_Mutation SNP C C T TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr12:72307690C>T ENST00000550746.1 + 13 1500 c.1436C>T c.(1435-1437)tCt>tTt p.S479F TBC1D15_ENST00000485960.2_Missense_Mutation_p.S462F|TBC1D15_ENST00000548679.1_3'UTR|TBC1D15_ENST00000319106.8_Missense_Mutation_p.S470F|TBC1D15_ENST00000393309.3_Missense_Mutation_p.S233F NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 479 Rab-GAP TBC. protein binding|Rab GTPase activator activity NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TGCTTTGCCTCTTACATGGAC 0.294000 587 623 0 0 0.000147903 0 0 EPHB1 2047 broad.mit.edu 37 3 134880946 134880946 + Silent SNP G G T TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr3:134880946G>T ENST00000398015.3 + 7 1879 c.1509G>T c.(1507-1509)gtG>gtT p.V503V EPHB1_ENST00000493838.1_Silent_p.V64V NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 503 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 TGGTATATGTGGTACAGGTGC 0.552000 40 12 1.03484e-13 1.07736e-11 0.000191422 1 0 CD163L1 283316 broad.mit.edu 37 12 7531757 7531757 + Missense_Mutation SNP G G T rs147841364 TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr12:7531757G>T ENST00000313599.3 - 9 2245 c.2188C>A c.(2188-2190)Caa>Aaa p.Q730K CD163L1_ENST00000396630.1_Missense_Mutation_p.Q730K|CD163L1_ENST00000416109.2_Missense_Mutation_p.Q740K|CD163L1_ENST00000544331.1_Intron Q9NR16 C163B_HUMAN CD163 molecule-like 1 730 SRCR 7. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CATTCAAGTTGCCTGCAAACA 0.488000 23 47 3.01185e-09 3.02559e-07 7.16444e-05 1 0 FRG1B 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 26 101 0 0 5.1965e-05 0 0 PTPRJ 5795 broad.mit.edu 37 11 48177618 48177618 + Nonsense_Mutation SNP G G T TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr11:48177618G>T ENST00000418331.2 + 21 3737 c.3385G>T c.(3385-3387)Gag>Tag p.E1129* NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 1129 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 TATGGTTTGGGAGAAAAATGT 0.328000 46 64 6.31075e-24 6.81799e-22 0.000147903 1 0 LGR5 8549 broad.mit.edu 37 12 71833953 71833953 + Silent SNP G G T TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr12:71833953G>T ENST00000266674.5 + 1 404 c.93G>T c.(91-93)ctG>ctT p.L31L LGR5_ENST00000536515.1_Silent_p.L31L|TSPAN8_ENST00000393330.2_Intron|LGR5_ENST00000540815.2_Silent_p.L31L O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 31 LRRNT. 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 GTGTGTTGCTGAGGGGCTGCC 0.667000 42 6582 2.17888e-05 0.00211462 2.17888e-05 1 0 LRRC14B 389257 broad.mit.edu 37 5 191738 191738 + Missense_Mutation SNP G G A TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr5:191738G>A ENST00000328278.3 + 1 113 c.85G>A c.(85-87)Gtg>Atg p.V29M NM_001080478.1 NP_001073947.1 A6NHZ5 LR14B_HUMAN leucine rich repeat containing 14B 29 endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2) 10 CCTGGACAGCGTGGCCCACAA 0.652000 6 44 0 0 8.12818e-05 0 0 CNNM1 26507 broad.mit.edu 37 10 101090132 101090132 + Missense_Mutation SNP G G A TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr10:101090132G>A ENST00000356713.4 + 1 1277 c.988G>A c.(988-990)Gtg>Atg p.V330M CNNM1_ENST00000446890.1_Missense_Mutation_p.V259M|CNNM1_ENST00000370534.4_5'UTR|CNNM1_ENST00000370528.3_Missense_Mutation_p.V259M NM_020348.2 NP_065081.2 Q9NRU3 CNNM1_HUMAN cyclin M1 330 DUF21. ion transport integral to membrane|plasma membrane NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1) 25 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) GCCGGCGCTCGTGTGCACCGG 0.697000 4 2 0 0 0.00024832 0 0 SSTR1 6751 broad.mit.edu 37 14 38679353 38679353 + Silent SNP G G T TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr14:38679353G>T ENST00000267377.2 + 3 1376 c.759G>T c.(757-759)gtG>gtT p.V253V NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 253 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) TGCGCATGGTGGCCCTCAAGG 0.567000 20 29 3.99206e-14 4.23306e-12 9.7654e-05 1 0 SLC35E3 55508 broad.mit.edu 37 12 69141725 69141725 + Missense_Mutation SNP G G T TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr12:69141725G>T ENST00000398004.2 + 2 690 c.418G>T c.(418-420)Ggt>Tgt p.G140C NM_018656.2 NP_061126.2 Q7Z769 S35E3_HUMAN solute carrier family 35, member E3 140 integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Breast(13;2.31e-06)|Renal(347;0.0684) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372) TATAACTTTAGGTGTAATCCT 0.328000 48 3158 5.01169e-05 0.00470442 5.01169e-05 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33658390 33658390 + Silent SNP C C G TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr5:33658390C>G ENST00000504830.1 - 7 1424 c.1089G>C c.(1087-1089)ctG>ctC p.L363L ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.L363L NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 363 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 AAAGGTGAGACAGGCCCAGGG 0.502000 HNSCC(64;0.19) 53 146 0 0 0.000147903 0 0 MIA3 375056 broad.mit.edu 37 1 222803530 222803530 + Missense_Mutation SNP G G A TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr1:222803530G>A ENST00000344922.5 + 4 2993 c.2968G>A c.(2968-2970)Gca>Aca p.A990T MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.A990T NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 990 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) TCTGAGCATAGCAGAAAAAAT 0.413000 9 387 0 0 0.000151284 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971110 21971110 + Missense_Mutation SNP T T C TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr9:21971110T>C ENST00000304494.5 - 2 518 c.248A>G c.(247-249)cAc>cGc p.H83R CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32R|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32R|CDKN2A_ENST00000579755.1_Silent_p.A97A|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32R|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83R|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83R|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83R|CDKN2A_ENST00000361570.3_Silent_p.A138A|CDKN2A_ENST00000530628.2_Silent_p.A97A|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32R|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32R NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 83 H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.H83P(2)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.D84fs*36(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)|p.H83R(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GGCAGCGTCGTGCACGGGTCG 0.741000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 64 7 0 0 0.000147903 0 0 CAPN5 726 broad.mit.edu 37 11 76834836 76834836 + Nonsense_Mutation SNP C C T TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr11:76834836C>T ENST00000278559.3 + 13 2032 c.1843C>T c.(1843-1845)Cga>Tga p.R615* CAPN5_ENST00000456580.2_Nonsense_Mutation_p.R655*|CAPN5_ENST00000531028.1_3'UTR|CAPN5_ENST00000529629.1_Nonsense_Mutation_p.R615* NM_004055.4 NP_004046.2 O15484 CAN5_HUMAN calpain 5 615 C2. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 CCTCCGGGACCGAAATAGCCG 0.622000 33 27 0 0 4.66903e-05 0 0 ISM2 145501 broad.mit.edu 37 14 77950804 77950804 + Silent SNP A A C TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr14:77950804A>C ENST00000393684.3 - 4 616 c.225T>G c.(223-225)acT>acG p.T75T ISM2_ENST00000412904.1_Intron|ISM2_ENST00000429906.1_Silent_p.T82T|ISM2_ENST00000342219.4_Silent_p.T163T|ISM2_ENST00000493585.1_Silent_p.T163T Q6H9L7 ISM2_HUMAN isthmin 2 163 extracellular region endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 21 GCTCAGTGACAGTCCAACATC 0.617000 25 28 0 0 0.000117367 0 0 HSPA1L 3305 broad.mit.edu 37 6 31778779 31778779 + Missense_Mutation SNP C C T rs142398035 byFrequency TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr6:31778779C>T ENST00000375654.4 - 2 1160 c.971G>A c.(970-972)cGg>cAg p.R324Q HSPA1L_ENST00000417199.3_Missense_Mutation_p.R324Q NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 324 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 CTTGGCATCCCGAAGCGCTTT 0.498000 247 253 0 0 0.000147903 0 0 DNMBP 23268 broad.mit.edu 37 10 101716647 101716647 + Missense_Mutation SNP G G A TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr10:101716647G>A ENST00000342239.3 - 4 675 c.584C>T c.(583-585)cCa>cTa p.P195L DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Missense_Mutation_p.P195L Q6XZF7 DNMBP_HUMAN dynamin binding protein 195 SH3 3. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) AAAACCTTCTGGAAAAATGCC 0.483000 24 42 0 0 9.22233e-05 0 0 FGFR3 2261 broad.mit.edu 37 4 1803642 1803642 + Missense_Mutation SNP C C T TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr4:1803642C>T ENST00000340107.4 + 7 1076 c.820C>T c.(820-822)Cac>Tac p.H274Y FGFR3_ENST00000352904.1_Missense_Mutation_p.H274Y|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.H274Y|FGFR3_ENST00000260795.2_Missense_Mutation_p.H274Y|FGFR3_ENST00000440486.2_Missense_Mutation_p.H274Y|FGFR3_ENST00000412135.2_Missense_Mutation_p.H274Y NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 274 Ig-like C2-type 3. bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CGTGGAGTTCCACTGCAAGGT 0.672000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 143 173 0 0 0.000147903 0 0 PLP1 5354 broad.mit.edu 37 X 103044323 103044323 + Missense_Mutation SNP C C T TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chrX:103044323C>T ENST00000418604.1 + 7 1038 c.758C>T c.(757-759)tCc>tTc p.S253F PLP1_ENST00000303958.2_Missense_Mutation_p.S253F|PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000361621.2_Missense_Mutation_p.S218F NM_001128834.1 NP_001122306.1 P60201 MYPR_HUMAN proteolipid protein 1 253 S -> F (in HLD1). cell death|synaptic transmission integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 17 ACACTGGTTTCCCTGGTGAGT 0.453000 59 4 0 0 0.000147903 0 0 PRKDC 5591 broad.mit.edu 37 8 48749816 48749816 + Missense_Mutation SNP G G A TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr8:48749816G>A ENST00000314191.2 - 58 7771 c.7715C>T c.(7714-7716)cCa>cTa p.P2572L PRKDC_ENST00000338368.3_Missense_Mutation_p.P2572L|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2573 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CATGGGGTTTGGATAATCTGG 0.388000 Non-homologous end-joining 13 12 0 0 7.07596e-05 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144859894 144859894 + Missense_Mutation SNP C C T TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr1:144859894C>T ENST00000369359.4 - 41 6636 c.6598G>A c.(6598-6600)Ggg>Agg p.G2200R PDE4DIP_ENST00000313382.9_Missense_Mutation_p.G1958R|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.G2064R|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.G2064R|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.G2149R Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2064 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CAATTGTTCCCCTGAATGCTC 0.592000 T PDGFRB MPD 19 71 0 0 0.000132079 0 0 FIGLA 344018 broad.mit.edu 37 2 71012684 71012684 + Nonsense_Mutation SNP G G A TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr2:71012684G>A ENST00000332372.6 - 3 476 c.472C>T c.(472-474)Caa>Taa p.Q158* NM_001004311.3 NP_001004311.2 Q6QHK4 FIGLA_HUMAN folliculogenesis specific basic helix-loop-helix 158 multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent transcription factor complex DNA binding|transcription factor binding endometrium(2)|lung(3) 5 CTGATATGTTGGGTGATGTTT 0.488000 82 207 0 0 0.000147903 0 0 TTC12 54970 broad.mit.edu 37 11 113196260 113196260 + Missense_Mutation SNP G G C TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr11:113196260G>C ENST00000393020.1 + 6 742 c.337G>C c.(337-339)Ggg>Cgg p.G113R TTC12_ENST00000483239.2_Missense_Mutation_p.G113R|TTC12_ENST00000529221.1_Missense_Mutation_p.G113R|TTC12_ENST00000314756.3_Missense_Mutation_p.G113R Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 113 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) AAAAGAAAAAGGGAATGAAGC 0.428000 17 25 0 0 9.7654e-05 0 0 ZNF398 57541 broad.mit.edu 37 7 148876793 148876793 + Missense_Mutation SNP C C T TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr7:148876793C>T ENST00000420008.2 + 6 2104 c.1316C>T c.(1315-1317)cCc>cTc p.P439L ZNF398_ENST00000483892.1_Missense_Mutation_p.P439L|ZNF398_ENST00000491174.1_Missense_Mutation_p.P439L|ZNF398_ENST00000335901.4_Missense_Mutation_p.P439L|ZNF398_ENST00000540950.1_Missense_Mutation_p.P615L|ZNF398_ENST00000426851.2_Missense_Mutation_p.P439L|ZNF398_ENST00000475153.1_Missense_Mutation_p.P610L NM_170686.2 NP_733787.1 Q8TD17 ZN398_HUMAN zinc finger protein 398 610 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1) 25 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) CCACCAGGTCCCCTCATAACT 0.557000 9 29 0 0 1.12685e-05 0 0 RGS7BP 401190 broad.mit.edu 37 5 63803626 63803626 + Missense_Mutation SNP G G A TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr5:63803626G>A ENST00000334025.2 + 2 580 c.254G>A c.(253-255)cGg>cAg p.R85Q RGS7BP_ENST00000508162.1_Intron NM_001029875.1|NM_001271890.1|NM_001271891.1 NP_001025046.1|NP_001258819.1|NP_001258820.1 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding protein 85 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) CCCTCACTCCGGGCGGAAATG 0.522000 17 25 0 0 5.01169e-05 0 0 CSMD1 64478 broad.mit.edu 37 8 2815274 2815274 + Missense_Mutation SNP G G A TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr8:2815274G>A ENST00000520002.1 - 64 10316 c.9761C>T c.(9760-9762)aCg>aTg p.T3254M CSMD1_ENST00000537824.1_Missense_Mutation_p.T3253M|CSMD1_ENST00000602723.1_Missense_Mutation_p.T3077M|CSMD1_ENST00000602557.1_Missense_Mutation_p.T3254M|CSMD1_ENST00000400186.3_Missense_Mutation_p.T3077M|CSMD1_ENST00000542608.1_Missense_Mutation_p.T3076M Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3254 Sushi 27. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGTGCGAGTCGTGGAACCTTG 0.443000 5 4 0 0 3.59834e-05 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35913788 35913788 + Silent SNP C C T rs147017356 TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr1:35913788C>T ENST00000325722.3 - 16 2733 c.2499G>A c.(2497-2499)ccG>ccA p.P833P KIAA0319L_ENST00000373266.4_Silent_p.P270P|KIAA0319L_ENST00000485551.1_5'UTR NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 833 cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GCTCCGTGTACGGCTGAATCT 0.542000 25 91 0 0 9.22233e-05 0 0 SPTA1 6708 broad.mit.edu 37 1 158606503 158606503 + Silent SNP C C T TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr1:158606503C>T ENST00000368148.3 - 37 5418 c.5238G>A c.(5236-5238)caG>caA p.Q1746Q SPTA1_ENST00000368147.3_Silent_p.Q1746Q NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1746 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCTGAACCCCCTGAAGATCTC 0.468000 25 129 0 0 7.16444e-05 0 0 PRKCH 5583 broad.mit.edu 37 14 61788891 61788891 + Silent SNP C C G TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr14:61788891C>G ENST00000332981.5 + 1 457 c.72C>G c.(70-72)ccC>ccG p.P24P RP11-902B17.1_ENST00000500036.2_RNA NM_006255.3 NP_006246.2 P24723 KPCL_HUMAN protein kinase C, eta 24 C2. intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) GGCTGCAGCCCACCCGCTGGT 0.682000 3 7 0 0 6.4e-05 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87370861 87370861 + Missense_Mutation SNP A A C TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr7:87370861A>C ENST00000338056.3 + 7 1057 c.646A>C c.(646-648)Ata>Cta p.I216L RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.I199L|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.I199L NM_001134405.1|NM_138290.2 NP_001127877.1|NP_612147.1 Q96NL0 RUN3B_HUMAN RUN domain containing 3B 216 breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) TCCTGCTGTAATAGACTATAC 0.279000 19 18 0 0 5.49717e-05 0 0 PCSK9 255738 broad.mit.edu 37 1 55505557 55505557 + Missense_Mutation SNP T T C TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr1:55505557T>C ENST00000302118.5 + 1 337 c.47T>C c.(46-48)cTg>cCg p.L16P PCSK9_ENST00000452118.2_Missense_Mutation_p.L16P NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 16 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 ctgccactgctgctgctgctg 0.706000 49 43 0 0 0.000147903 0 0 CAMK2B 816 broad.mit.edu 37 7 44266164 44266164 + Silent SNP C C G TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr7:44266164C>G ENST00000395749.2 - 20 1624 c.1548G>C c.(1546-1548)ggG>ggC p.G516G CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000489429.1_5'UTR NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 516 interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 AGGGCGGGGGCCCCACTGGCG 0.697000 3 8 0 0 0.00024832 0 0 HNRNPR 10236 broad.mit.edu 37 1 23648071 23648071 + Missense_Mutation SNP G G T TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr1:23648071G>T ENST00000478691.1 - 6 729 c.458C>A c.(457-459)cCg>cAg p.P153Q HNRNPR_ENST00000426846.2_Missense_Mutation_p.P94Q|HNRNPR_ENST00000374616.3_Missense_Mutation_p.P254Q|HNRNPR_ENST00000427764.2_Missense_Mutation_p.P216Q|HNRNPR_ENST00000302271.6_Missense_Mutation_p.P254Q|HNRNPR_ENST00000374612.1_Missense_Mutation_p.P254Q|HNRNPR_ENST00000606561.1_Missense_Mutation_p.P115Q NM_001102397.1|NM_001102399.1 NP_001095867.1|NP_001095869.1 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 254 Asp/Glu-rich (acidic). catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) CTTATTCTTCGGAATGGATCC 0.343000 14 1213 6.40141e-05 0.00591201 6.40141e-05 1 0 LBX2 85474 broad.mit.edu 37 2 74729892 74729892 + Missense_Mutation SNP G G A rs149381878 TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr2:74729892G>A ENST00000460508.3 - 1 551 c.95C>T c.(94-96)tCc>tTc p.S32F LBX2_ENST00000550249.1_Intron|LBX2_ENST00000341396.2_Intron|LBX2-AS1_ENST00000603175.1_RNA|LBX2-AS1_ENST00000548978.2_RNA NM_001009812.1 NP_001009812.1 Q6XYB7 LBX2_HUMAN ladybird homeobox 2 30 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1) 4 TGCGGGCCGGGAAGCAGCCAG 0.627000 20 37 0 0 0.000229342 0 0 DLX6 1750 broad.mit.edu 37 7 96635389 96635391 + In_Frame_Del DEL CAG CAG - rs35478952 TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr7:96635389_96635391delCAG ENST00000518156.2 + 1 530_532 c.100_102delCAG c.(100-102)del p.Q44del DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437331.2_RNA P56179 DLX6_HUMAN distal-less homeobox 6 0 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) gcagcagcaacagcagcagcagc 0.680 2 4 --- --- --- --- RP11-34D15.2 0 broad.mit.edu 37 10 102104601 102104601 + RNA DEL T T - TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr10:102104601delT ENST00000429420.1 - 0 103 AAAATCACAAttttttttttt 0.403 3 6 --- --- --- --- OVOS2 144203 broad.mit.edu 37 12 31269189 31269190 + RNA INS - - ATCAT rs35880498 TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr12:31269189_31269190insATCAT ENST00000542490.1 - 0 165 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CATGAGAACTCATTACCATGAT 0.351 2 4 --- --- --- --- YY1 7528 broad.mit.edu 37 14 100728792 100728792 + Frame_Shift_Del DEL A A - TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr14:100728792delA ENST00000262238.4 + 2 1091 c.831delA c.(829-831)gcfs p.A277fs NM_003403.3 NP_003394.1 P25490 TYY1_HUMAN YY1 transcription factor 277 Involved in nuclear matrix association. cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) AACAACTGGCAGAATTTGCTA 0.398 47 57 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|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_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs 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 11 223 --- --- --- --- ROCK1P1 727758 broad.mit.edu 37 18 112402 112405 + RNA DEL AACC AACC - rs113232824 TCGA-D9-A1X3-01A-11D-A197-08 TCGA-D9-A1X3-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453504ec-ec7a-481c-b5d5-e32c27caede6 2ac41d53-16d3-4125-9a1f-36e88e4567d7 g.chr18:112402_112405delAACC ENST00000576266.1 + 0 36_39 CCCTGCCCCGAACCACCCGACCCC 0.711 3 4 --- --- --- ---