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 CTC-260F20.3 0 broad.mit.edu 37 19 19645880 19645880 + Missense_Mutation SNP C C T TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr19:19645880C>T ENST00000555938.1 + 5 365 c.353C>T c.(352-354)aCg>aTg p.T118M YJEFN3_ENST00000436027.4_Missense_Mutation_p.T69M|YJEFN3_ENST00000514277.3_Missense_Mutation_p.T119M AAGCAGAGGACGGTGCTGGTC 0.642000 73 152 0 0 0.139131 0 0 CHAMP1 283489 broad.mit.edu 37 13 115090966 115090966 + Missense_Mutation SNP T T C TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr13:115090966T>C ENST00000361283.1 + 3 1958 c.1649T>C c.(1648-1650)cTt>cCt p.L550P NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 550 Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding AAACGTGCCCTTTTTCCAGAG 0.517000 5 328 0 0 0.021553 0 0 C14orf159 80017 broad.mit.edu 37 14 91655506 91655506 + Missense_Mutation SNP T T G TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr14:91655506T>G ENST00000518868.1 + 12 1877 c.1187T>G c.(1186-1188)gTt>gGt p.V396G C14orf159_ENST00000525393.2_Missense_Mutation_p.V267G|C14orf159_ENST00000256324.10_Missense_Mutation_p.V396G|C14orf159_ENST00000521077.2_Missense_Mutation_p.V396G|C14orf159_ENST00000520328.1_Missense_Mutation_p.V379G|C14orf159_ENST00000523771.1_Missense_Mutation_p.V391G|C14orf159_ENST00000412671.2_Missense_Mutation_p.V396G|C14orf159_ENST00000523816.1_Missense_Mutation_p.V391G|C14orf159_ENST00000428926.2_Missense_Mutation_p.V391G|C14orf159_ENST00000522322.1_Missense_Mutation_p.V391G Q7Z3D6 CN159_HUMAN chromosome 14 open reading frame 159 391 mitochondrion NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) GAAGATGCTGTTGAGCAAGGT 0.532000 19 87 0 0 0.108266 0 0 ZNF91 7644 broad.mit.edu 37 19 23544867 23544867 + Missense_Mutation SNP T T C TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr19:23544867T>C ENST00000300619.7 - 4 1119 c.914A>G c.(913-915)cAt>cGt p.H305R ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 305 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAATGGCTAAAAGC 0.413000 5 124 0 0 0.038147 0 0 RANBP2 5903 broad.mit.edu 37 2 109371498 109371498 + Silent SNP G G A TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr2:109371498G>A ENST00000283195.6 + 16 2466 c.2340G>A c.(2338-2340)ccG>ccA p.P780P NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 780 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATTCTACACCGTCTCCTACCA 0.353000 6 229 0 0 0.021553 0 0 USP37 57695 broad.mit.edu 37 2 219341590 219341590 + Missense_Mutation SNP G G T TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr2:219341590G>T ENST00000258399.3 - 19 2428 c.2016C>A c.(2014-2016)aaC>aaA p.N672K USP37_ENST00000418019.1_Missense_Mutation_p.N672K|USP37_ENST00000415516.1_Missense_Mutation_p.N578K|USP37_ENST00000454775.1_Missense_Mutation_p.N672K NM_020935.2 NP_065986.2 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 672 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) GCTGCTGTTCGTTGCCTAACA 0.393000 20 52 7.88262e-20 9.79356e-20 0.083992 1 0 RPSA 3921 broad.mit.edu 37 3 39450137 39450137 + Silent SNP T T G TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr3:39450137T>G ENST00000301821.6 + 3 283 c.174T>G c.(172-174)ctT>ctG p.L58L RPSA_ENST00000478027.1_3'UTR|RPSA_ENST00000443003.1_Silent_p.L58L NM_001012321.1|NM_002295.4 NP_001012321.1|NP_002286.2 P08865 RSSA_HUMAN ribosomal protein SA 58 Interaction with PPP1R16B. cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription 90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane protein binding|receptor activity|ribosome binding|structural constituent of ribosome endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064) GGGAGAAGCTTCTGCTGGCAG 0.458000 16 46 0 0 0.146539 0 0 CCDC15 80071 broad.mit.edu 37 11 124857585 124857585 + Missense_Mutation SNP C C A rs112861775 TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr11:124857585C>A ENST00000529051.1 + 8 1722 c.1463C>A c.(1462-1464)cCc>cAc p.P488H CCDC15_ENST00000344762.5_Missense_Mutation_p.P488H Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 488 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) CATGTTCTCCCCAAAGACCAA 0.403000 5 141 0.014758 0.0155148 0.014758 1 0 SPRR3 6707 broad.mit.edu 37 1 152975781 152975781 + Silent SNP G G A TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr1:152975781G>A ENST00000331860.3 + 3 435 c.285G>A c.(283-285)gaG>gaA p.E95E SPRR3_ENST00000295367.4_Silent_p.E95E|SPRR3_ENST00000542696.1_Intron NM_005416.2 NP_005407.1 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 95 14 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AGGTCCCTGAGCCAGGTTGTA 0.592000 18 38 0 0 0.062417 0 0 MAN2A2 4122 broad.mit.edu 37 15 91450694 91450694 + Missense_Mutation SNP C C T TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr15:91450694C>T ENST00000360468.3 + 7 1183 c.1165C>T c.(1165-1167)Cgg>Tgg p.R389W MAN2A2_ENST00000559717.1_Missense_Mutation_p.R389W|MAN2A2_ENST00000431652.2_5'UTR NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 389 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GGTGCCACCCCGGGCCATCAC 0.607000 11 50 0 0 0.105934 0 0 TLR1 7096 broad.mit.edu 37 4 38798749 38798749 + Silent SNP C C T TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr4:38798749C>T ENST00000308979.2 - 4 1977 c.1704G>A c.(1702-1704)aaG>aaA p.K568K TLR1_ENST00000502213.2_Silent_p.K568K NM_003263.3 NP_003254.2 Q15399 TLR1_HUMAN toll-like receptor 1 568 LRRCT. cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2) 28 TGTGAAAGTCCTTTAGTAGGG 0.448000 32 111 0 0 0.163468 0 0 TTN 7273 broad.mit.edu 37 2 179463271 179463271 + Missense_Mutation SNP C C T TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr2:179463271C>T ENST00000589042.1 - 292 57297 c.57073G>A c.(57073-57075)Gtt>Att p.V19025I TTN_ENST00000591111.1_Missense_Mutation_p.V17384I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9960I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V10085I|TTN_ENST00000342992.6_Missense_Mutation_p.V16457I|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10152I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17384 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) TTATATTCAACGATGTATCCA 0.378000 17 23 0 0 0.043863 0 0 CD276 80381 broad.mit.edu 37 15 73996665 73996665 + Missense_Mutation SNP C C A TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr15:73996665C>A ENST00000318443.5 + 6 1523 c.1221C>A c.(1219-1221)aaC>aaA p.N407K CD276_ENST00000561213.1_Missense_Mutation_p.N407K|CD276_ENST00000318424.5_Missense_Mutation_p.N189K|CD276_ENST00000564751.1_Missense_Mutation_p.N189K|CD276_ENST00000537340.2_Missense_Mutation_p.N261K NM_001024736.1 NP_001019907.1 Q5ZPR3 CD276_HUMAN CD276 molecule 407 Ig-like C2-type 2. 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 TGACTGGCAACGTGACCACGT 0.647000 OREG0023265 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 70 8.88839e-20 1.07184e-19 0.153744 1 0 VPS16 64601 broad.mit.edu 37 20 2842496 2842496 + Silent SNP G G A TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr20:2842496G>A ENST00000380445.3 + 10 1017 c.945G>A c.(943-945)ggG>ggA p.G315G VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_3'UTR NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 315 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 AGCTCGATGGGGTCCGCATCT 0.592000 7 24 0 0 0.058154 0 0 KIFC2 90990 broad.mit.edu 37 8 145697577 145697577 + Silent SNP G G A TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr8:145697577G>A ENST00000301332.2 + 14 1919 c.1542G>A c.(1540-1542)gaG>gaA p.E514E KIFC2_ENST00000531423.1_3'UTR|KIFC2_ENST00000301331.5_Silent_p.E262E NM_145754.2 NP_665697.1 Q96AC6 KIFC2_HUMAN kinesin family member C2 514 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1) 19 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) TGTTCCGGGAGATGGGGGCCG 0.652000 3 74 0 0 0.150653 0 0 MN1 4330 broad.mit.edu 37 22 28194930 28194930 + Silent SNP C C T TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr22:28194930C>T ENST00000302326.4 - 1 2556 c.1602G>A c.(1600-1602)caG>caA p.Q534Q NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 534 Poly-Gln. binding p.Q550_R551insQ(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 gctgctgctgctgttgctgct 0.647000 T ETV6 """AML, meningioma""" 3 6 0 0 0.150653 0 0 EXOC2 55770 broad.mit.edu 37 6 564561 564561 + Missense_Mutation SNP C C T rs138384447 TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr6:564561C>T ENST00000230449.4 - 15 1786 c.1651G>A c.(1651-1653)Gcc>Acc p.A551T EXOC2_ENST00000448181.3_Missense_Mutation_p.A146T NM_018303.4 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 551 exocytosis|protein transport breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) GTCTGGATGGCGTGAGCGAGC 0.517000 26 93 0 0 0.183431 0 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000542447.2_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 343 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 3 46 0.00024832 0.000267924 0.150653 1 0 IL3RA 3563 broad.mit.edu 37 X 1501315 1501315 + Missense_Mutation SNP A A G TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chrX:1501315A>G ENST00000331035.4 + 12 1443 c.1094A>G c.(1093-1095)gAg>gGg p.E365G IL3RA_ENST00000381469.2_Missense_Mutation_p.E287G NM_001267713.1|NM_002183.3 NP_001254642.1|NP_002174.1 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha (low affinity) 365 integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GCCGGCCTGGAGGAGTGTCTG 0.637000 32 161 0 0 0.074837 0 0 ABL1 25 broad.mit.edu 37 9 133753877 133753877 + Missense_Mutation SNP A A G TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr9:133753877A>G ENST00000318560.5 + 8 1727 c.1346A>G c.(1345-1347)tAt>tGt p.Y449C NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 449 Protein kinase. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) TCCCAGGTGTATGAGCTGCTA 0.507000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 62 178 0 0 0.139131 0 0 DCHS2 54798 broad.mit.edu 37 4 155158120 155158120 + Missense_Mutation SNP C C A TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr4:155158120C>A ENST00000357232.3 - 25 6318 c.6319G>T c.(6319-6321)Gct>Tct p.A2107S NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 2107 Cadherin 19. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CCAACCAGAGCATCCTCACTT 0.398000 5 207 2.7689e-08 3.15346e-08 0.029380 1 0 ZNF780A 284323 broad.mit.edu 37 19 40580552 40580552 + Missense_Mutation SNP T T G TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr19:40580552T>G ENST00000450241.2 - 6 2006 c.1695A>C c.(1693-1695)caA>caC p.Q565H ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H O75290 Z780A_HUMAN zinc finger protein 780A 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTCGAATAAGTTGCATATGAA 0.403000 4 144 0 0 0.014758 0 0 AHNAK2 113146 broad.mit.edu 37 14 105408253 105408253 + Missense_Mutation SNP C C T rs112306443 TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr14:105408253C>T ENST00000333244.5 - 7 13654 c.13535G>A c.(13534-13536)cGc>cAc p.R4512H AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4512 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGCCTGAATGCGGAGGTCAGT 0.622000 47 106 0 0 0.139131 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 3 26 0 0 0.115264 0 0 FOXP1 27086 broad.mit.edu 37 3 71037204 71037204 + Nonsense_Mutation SNP G G A TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr3:71037204G>A ENST00000318789.4 - 14 1612 c.1087C>T c.(1087-1089)Caa>Taa p.Q363* FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q365*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000484350.1_Nonsense_Mutation_p.Q287* NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 363 Leucine-zipper. cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) ATCATGGCTTGCAGGCGTTCT 0.428000 T PAX5 ALL 63 154 0 0 0.139131 0 0 RELN 5649 broad.mit.edu 37 7 103179597 103179597 + Missense_Mutation SNP C C T TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr7:103179597C>T ENST00000424685.2 - 45 7267 c.7108G>A c.(7108-7110)Gtt>Att p.V2370I RELN_ENST00000343529.5_Missense_Mutation_p.V2370I|RELN_ENST00000428762.1_Missense_Mutation_p.V2370I P78509 RELN_HUMAN reelin 2370 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) TTCACGGCAACGTCTGTGCTG 0.542000 7 46 0 0 0.047766 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 66 0 0 0.150653 0 0 LDB3 11155 broad.mit.edu 37 10 88447004 88447004 + Nonsense_Mutation SNP C C T TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr10:88447004C>T ENST00000429277.2 + 6 1013 c.868C>T c.(868-870)Caa>Taa p.Q290* LDB3_ENST00000310944.6_Intron|LDB3_ENST00000372056.4_Nonsense_Mutation_p.Q290*|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000263066.6_Nonsense_Mutation_p.Q175*|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000372066.3_Nonsense_Mutation_p.Q175*|LDB3_ENST00000458213.2_Nonsense_Mutation_p.Q175* NM_001171610.1 NP_001165081.1 O75112 LDB3_HUMAN LIM domain binding 3 280 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 TGGGCAGGCCCAAGCCCAAGG 0.637000 21 82 0 0 0.069288 0 0 KNOP1 400506 broad.mit.edu 37 16 19725711 19725711 + Missense_Mutation SNP T T G TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr16:19725711T>G ENST00000219837.7 - 2 725 c.647A>C c.(646-648)aAa>aCa p.K216T AC002550.5_ENST00000565916.1_RNA NM_001012991.2 NP_001013009.2 lysine-rich nucleolar protein 1 GTGGATTTTTTTTTTCTTCTT 0.532000 3 59 0 0 0.021553 0 0 FBXO15 201456 broad.mit.edu 37 18 71790685 71790685 + Silent SNP G G A TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr18:71790685G>A ENST00000269500.5 - 8 1163 c.828C>T c.(826-828)caC>caT p.H276H FBXO15_ENST00000419743.2_Silent_p.H352H NM_152676.2 NP_689889.1 Q8NCQ5 FBX15_HUMAN F-box protein 15 276 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) GTTGGTAGCCGTGCAGTCCAT 0.443000 3 59 0 0 0.150653 0 0 KIAA1328 57536 broad.mit.edu 37 18 34802090 34802090 + Missense_Mutation SNP G G T TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr18:34802090G>T ENST00000591619.1 + 10 2408 c.1622G>T c.(1621-1623)cGa>cTa p.R541L KIAA1328_ENST00000280020.5_Missense_Mutation_p.R545L|KIAA1328_ENST00000586135.1_3'UTR|KIAA1328_ENST00000543923.1_Intron Q86T90 K1328_HUMAN KIAA1328 545 central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 14 COAD - Colon adenocarcinoma(74;0.195) GGTACTTTCCGACTCAGTCCT 0.478000 4 15 1.23904e-05 1.37299e-05 0.014758 1 0 NPC1 4864 broad.mit.edu 37 18 21134925 21134925 + Silent SNP G G T TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr18:21134925G>T ENST00000269228.5 - 9 1904 c.1350C>A c.(1348-1350)atC>atA p.I450I NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Silent_p.I200I NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 450 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) TAATGTTTTCGATGGCTATTT 0.398000 8 30 0.0581538 0.0596076 0.058154 1 0 NYAP1 222950 broad.mit.edu 37 7 100084560 100084560 + Missense_Mutation SNP C C T TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr7:100084560C>T ENST00000423930.1 + 3 344 c.185C>T c.(184-186)aCg>aTg p.T62M NYAP1_ENST00000454988.1_Missense_Mutation_p.T5M|NYAP1_ENST00000300179.2_Missense_Mutation_p.T62M Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 62 GGTTTCATGACGATGCCCGCC 0.751000 4 11 0 0 0.021553 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 4 194 0 0 0.014758 0 0 RXFP1 59350 broad.mit.edu 37 4 159549858 159549858 + Frame_Shift_Del DEL A A - TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr4:159549858delA ENST00000307765.5 + 11 1147 c.896delA c.(895-897)gafs p.E299fs RXFP1_ENST00000448688.2_Frame_Shift_Del_p.E194fs|RXFP1_ENST00000470033.1_Frame_Shift_Del_p.E266fs|RXFP1_ENST00000343542.5_Frame_Shift_Del_p.E299fs|RXFP1_ENST00000460056.2_Frame_Shift_Del_p.E218fs NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 299 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) AAACTGGATGAATTGTAAGTA 0.264 11 31 --- --- --- --- POTEA 340441 broad.mit.edu 37 8 43216290 43216290 + RNA DEL A A - TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr8:43216290delA ENST00000522175.2 + 0 1543 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GAAGTGGCCGAAAAAAAAATG 0.284 3 4 --- --- --- --- RP11-180I4.2 0 broad.mit.edu 37 9 98468147 98468148 + RNA INS - - CAC rs117111638 by1000genomes TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr9:98468147_98468148insCAC ENST00000580326.1 + 0 189 acaatcaccatcaccaccacca 0.574 3 4 --- --- --- --- GCN1L1 10985 broad.mit.edu 37 12 120595737 120595739 + In_Frame_Del DEL CTC CTC - TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr12:120595737_120595739delCTC ENST00000300648.6 - 26 3013_3015 c.3001_3003delGAG c.(3001-3003)del p.E1001del NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1001 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGGCCATCCACTCCTCCTCCTCC 0.631 7 121 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7788212 7788214 + In_Frame_Del DEL GAG GAG - TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr17:7788212_7788214delGAG ENST00000380358.4 + 1 89_91 c.88_90delGAG c.(88-90)del p.E35del LSMD1_ENST00000570555.1_Intron|LSMD1_ENST00000576861.1_Intron NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 450 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) agagggcgacgaggaggaggagg 0.685 3 6 --- --- --- --- CACNA1A 773 broad.mit.edu 37 19 13319691 13319692 + In_Frame_Ins INS - - GGT rs16052 TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr19:13319691_13319692insGGT ENST00000360228.5 - 46 6657_6658 c.6658_6659insACC c.(6658-6660)ccc>ACCccc p.2219_2220insT CACNA1A_ENST00000573710.2_In_Frame_Ins_p.2220_2221insT NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 2220 Poly-His. cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GGGGGGCGGGGGAtggtggtgg 0.733 2 4 --- --- --- --- SUGP2 10147 broad.mit.edu 37 19 19136394 19136394 + Frame_Shift_Del DEL T T - TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12dd9452-9a7b-4193-85c7-573b088b1979 77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6 g.chr19:19136394delT ENST00000601879.1 - 3 1060 c.763delA c.(763-765)tafs p.I255fs SUGP2_ENST00000337018.6_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000600377.1_Frame_Shift_Del_p.I269fs|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000452918.2_Frame_Shift_Del_p.I255fs Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 255 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 ACGGTGGGTATTTTTTTTGTG 0.502 9 213 --- --- --- ---