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 FOLH1B 219595 broad.mit.edu 37 11 89395333 89395333 + RNA SNP A A G TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr11:89395333A>G ENST00000532352.1 + 0 731 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 GCTTATAGGCATGGAATTGCA 0.348000 3 56 0 0 1 0 0 MLIP 90523 broad.mit.edu 37 6 53989504 53989504 + Silent SNP A A G TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr6:53989504A>G ENST00000514921.1 + 3 566 c.453A>G c.(451-453)ccA>ccG p.P151P MLIP_ENST00000370877.2_Silent_p.P99P|MLIP_ENST00000502396.1_Silent_p.P162P|MLIP_ENST00000370876.2_Silent_p.P89P|MLIP_ENST00000509997.1_Silent_p.P99P|MLIP_ENST00000358276.5_Silent_p.P145P|MLIP_ENST00000274897.5_Silent_p.P151P|MLIP_ENST00000511744.1_3'UTR Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 151 nuclear envelope|PML body protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 AAGGCCCCCCAGGGGGGATTG 0.537000 6 155 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41554019 41554019 + Missense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr8:41554019C>T ENST00000396942.1 - 26 2905 c.2822G>A c.(2821-2823)cGg>cAg p.R941Q ANK1_ENST00000396945.1_Missense_Mutation_p.R941Q|ANK1_ENST00000347528.4_Missense_Mutation_p.R941Q|ANK1_ENST00000352337.4_Missense_Mutation_p.R941Q|ANK1_ENST00000265709.8_Missense_Mutation_p.R982Q|ANK1_ENST00000379758.2_Missense_Mutation_p.R941Q|ANK1_ENST00000289734.7_Missense_Mutation_p.R941Q P16157 ANK1_HUMAN ankyrin 1, erythrocytic 941 ZU5. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TGCGCACGTCCGTGGCGGGAT 0.682000 4 67 0 0 1 0 0 FNIP2 57600 broad.mit.edu 37 4 159750278 159750278 + Silent SNP A A G TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr4:159750278A>G ENST00000264433.6 + 3 357 c.282A>G c.(280-282)ggA>ggG p.G94G FNIP2_ENST00000505445.1_3'UTR|FNIP2_ENST00000379346.3_Silent_p.G117G NM_020840.1 NP_065891.1 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 94 DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) GCTGCCAGGGAagcagcagtg 0.458000 3 25 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20048104 20048104 + Silent SNP A A G TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr13:20048104A>G ENST00000400230.2 - 6 386 c.342T>C c.(340-342)gcT>gcC p.A114A TPTE2_ENST00000255310.6_Silent_p.A77A|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Silent_p.A77A|TPTE2_ENST00000382975.4_Silent_p.A114A|TPTE2_ENST00000382977.4_Silent_p.A114A|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382978.1_Silent_p.A114A Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 114 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.A77A(1)|p.A114A(1) NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ATAAGCCAATAGCTAGAGAAA 0.333000 3 153 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89395322 89395322 + RNA SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr11:89395322C>T ENST00000532352.1 + 0 720 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTTCAGAATACGCTTATAGGC 0.343000 4 45 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41026051 41026051 + Missense_Mutation SNP G G A TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr19:41026051G>A ENST00000352632.3 + 16 3733 c.3647G>A c.(3646-3648)cGt>cAt p.R1216H SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1216H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1216H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1216H|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R1216H Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 1216 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GTGGTGCTGCGTAACCAGGTG 0.672000 3 20 0 0 1 0 0 ELOVL5 60481 broad.mit.edu 37 6 53139895 53139895 + Silent SNP G G A TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr6:53139895G>A ENST00000542638.1 - 5 936 c.489C>T c.(487-489)tgC>tgT p.C163C ELOVL5_ENST00000541407.1_Silent_p.C190C|ELOVL5_ENST00000304434.6_Silent_p.C163C|ELOVL5_ENST00000370918.4_Silent_p.C153C Q9NYP7 ELOV5_HUMAN ELOVL fatty acid elongase 5 163 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Lung NSC(77;0.116) TACAGTGGCCGCAGGGGACCC 0.517000 3 55 0 0 1 0 0 HLA-DRA 3122 broad.mit.edu 37 6 32411670 32411670 + Missense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr6:32411670C>T ENST00000395388.2 + 4 857 c.748C>T c.(748-750)Cgc>Tgc p.R250C HLA-DRA_ENST00000374982.5_Missense_Mutation_p.R225C NM_019111.4 NP_061984.2 P01903 DRA_HUMAN major histocompatibility complex, class II, DR alpha 250 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 TGCAGCAGAACGCAGGGGGCC 0.532000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of 8 115 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12501446 12501446 + Missense_Mutation SNP T T C TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr19:12501446T>C ENST00000419318.1 - 4 2419 c.1670A>G c.(1669-1671)gAa>gGa p.E557G ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G|CTD-3105H18.14_ENST00000435033.1_Intron Q96GE5 ZN799_HUMAN zinc finger protein 799 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TTCCTTACATTCATACGGGTT 0.413000 3 115 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 3 36 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20048099 20048099 + Missense_Mutation SNP C C G TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr13:20048099C>G ENST00000400230.2 - 6 391 c.347G>C c.(346-348)gGc>gCc p.G116A TPTE2_ENST00000255310.6_Missense_Mutation_p.G79A|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Missense_Mutation_p.G79A|TPTE2_ENST00000382975.4_Missense_Mutation_p.G116A|TPTE2_ENST00000382977.4_Missense_Mutation_p.G116A|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.G116A Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 116 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.G116A(1)|p.G79A(1) NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) AAAAAATAAGCCAATAGCTAG 0.343000 3 152 0 0 1 0 0 HOXA13 3209 broad.mit.edu 37 7 27237982 27237982 + Silent SNP T T C rs35608915 byFrequency TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr7:27237982T>C ENST00000222753.4 - 2 1030 c.1002A>G c.(1000-1002)ttA>ttG p.L334L NM_000522.4 NP_000513.2 P31271 HXA13_HUMAN homeobox A13 334 skeletal system development nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 6 CAAGTTCTTTTAATTGCACCT 0.507000 T NUP98 AML OREG0003748 type=REGULATORY REGION|Gene=HOXA13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 5 214 0 0 1 0 0 TTC30B 150737 broad.mit.edu 37 2 178416303 178416303 + Missense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr2:178416303C>T ENST00000408939.2 - 1 1439 c.1189G>A c.(1189-1191)Gta>Ata p.V397I NM_152517.2 NP_689730.2 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B 397 cell projection organization cilium binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) GCTTCCTGTACTTGTATGGTA 0.448000 6 330 0 0 1 0 0 EBI3 10148 broad.mit.edu 37 19 4236975 4236975 + Missense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr19:4236975C>T ENST00000221847.5 + 5 633 c.580C>T c.(580-582)Cgg>Tgg p.R194W NM_005755.2 NP_005746.2 Q14213 IL27B_HUMAN Epstein-Barr virus induced 3 194 Fibronectin type-III 2. humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response extracellular space|plasma membrane cytokine activity|cytokine receptor activity large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGGCTGTGCGGCCCCGAGC 0.607000 3 85 0 0 1 0 0 NHSL2 340527 broad.mit.edu 37 X 71360543 71360543 + Missense_Mutation SNP G G T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chrX:71360543G>T ENST00000373677.1 + 2 3309 c.2047G>T c.(2047-2049)Ggc>Tgc p.G683C NHSL2_ENST00000540800.1_Missense_Mutation_p.G1049C|NHSL2_ENST00000535692.1_Missense_Mutation_p.G683C|NHSL2_ENST00000510661.1_Missense_Mutation_p.G818C F5H593 F5H593_HUMAN NHS-like 2 1049 NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1) 28 Renal(35;0.156) TCCCGCCACCGGCGATGACCT 0.562000 3 72 1 1 1 1 0 STXBP5L 9515 broad.mit.edu 37 3 120628502 120628502 + Missense_Mutation SNP G G A TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr3:120628502G>A ENST00000273666.6 + 2 348 c.77G>A c.(76-78)aGt>aAt p.S26N STXBP5L_ENST00000471454.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S26N NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 26 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AGCAGTGGCAGTAACAGTGGT 0.478000 3 66 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13100361 13100361 + Missense_Mutation SNP T T G TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr18:13100361T>G ENST00000506447.1 + 38 6801 c.6721T>G c.(6721-6723)Ttg>Gtg p.L2241V CEP192_ENST00000325971.8_Missense_Mutation_p.L1645V|CEP192_ENST00000430049.2_Missense_Mutation_p.L1766V|CEP192_ENST00000540847.2_3'UTR NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1836 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TTTAACTCGTTTGACCTCCAA 0.363000 8 117 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22382666 22382666 + Missense_Mutation SNP A A T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr15:22382666A>T ENST00000328795.4 + 1 285 c.194A>T c.(193-195)aAc>aTc p.N65I RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TTTCTGGGCAACTTGGCCTTC 0.463000 7 391 0 0 1 0 0 OR4X1 390113 broad.mit.edu 37 11 48285551 48285551 + Missense_Mutation SNP A A T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr11:48285551A>T ENST00000320048.1 + 1 139 c.139A>T c.(139-141)Atc>Ttc p.I47F NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 TGTGGTGACCATCCTGGCCAG 0.493000 7 62 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34180219 34180219 + Missense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr1:34180219C>T ENST00000373381.4 - 21 3550 c.3374G>A c.(3373-3375)cGc>cAc p.R1125H NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1085 CUB 7. 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) GCTCCACAGGCGCCGTCTGCC 0.592000 20 341 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890639 32890639 + RNA SNP T T C rs79284655 TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr16:32890639T>C ENST00000330048.5 - 0 3159 NR_003083.2 ACCAGCGGCTTGTAGTACACA 0.627000 4 37 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53668940 53668940 + Missense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr19:53668940C>T ENST00000600412.1 - 2 723 c.608G>A c.(607-609)gGc>gAc p.G203D ZNF665_ENST00000396424.3_Missense_Mutation_p.G268D Q9H7R5 ZN665_HUMAN zinc finger protein 665 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) AAAGGCTTTGCCACACTCATT 0.393000 5 248 0 0 1 0 0 COIL 8161 broad.mit.edu 37 17 55016500 55016500 + Missense_Mutation SNP T T C TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr17:55016500T>C ENST00000240316.4 - 7 1697 c.1663A>G c.(1663-1665)Aaa>Gaa p.K555E NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 555 Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) ATCAACTCTTTCCAAAATACA 0.388000 6 141 0 0 1 0 0 CXXC5 51523 broad.mit.edu 37 5 139060332 139060332 + Missense_Mutation SNP G G A TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr5:139060332G>A ENST00000302517.3 + 2 938 c.224G>A c.(223-225)cGc>cAc p.R75H CXXC5_ENST00000511048.1_Missense_Mutation_p.R75H NM_016463.7 NP_057547.5 Q7LFL8 CXXC5_HUMAN CXXC finger protein 5 75 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|nucleus DNA binding|signal transducer activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCTGCGCCGCTCCCGCCCG 0.642000 4 129 0 0 1 0 0 BAMBI 25805 broad.mit.edu 37 10 28970195 28970195 + Nonsense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr10:28970195C>T ENST00000375533.3 + 2 641 c.85C>T c.(85-87)Cga>Tga p.R29* NM_012342.2 NP_036474.1 Q13145 BAMBI_HUMAN BMP and activin membrane-bound inhibitor 29 cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape cytoplasm|integral to membrane|plasma membrane frizzled binding|type II transforming growth factor beta receptor binding central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 17 AGGTGAAATTCGATGCTACTG 0.433000 3 83 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86250007 86250007 + Missense_Mutation SNP T T C TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr1:86250007T>C ENST00000370571.2 - 49 4468 c.4102A>G c.(4102-4104)Aga>Gga p.R1368G COL24A1_ENST00000436319.1_Missense_Mutation_p.R1368G NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 1368 Collagen-like 16. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) CGGTGACCTCTTTTACCTTGA 0.453000 3 117 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195516162 195516162 + Silent SNP T T G TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr3:195516162T>G ENST00000463781.3 - 2 2748 c.2289A>C c.(2287-2289)tcA>tcC p.S763S MUC4_ENST00000475231.1_Silent_p.S763S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 768 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CTGTGTCAGGTGAGGTGCTGG 0.582000 7 62 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 6 102 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111398002 111398002 + Silent SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr4:111398002C>T ENST00000265162.5 + 1 774 c.432C>T c.(430-432)ctC>ctT p.L144L NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 144 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TCACCCGGCTCCCGGAGCTGA 0.622000 19 202 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62305292 62305292 + Silent SNP G G A TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr15:62305292G>A ENST00000261517.5 - 11 844 c.771C>T c.(769-771)gcC>gcT p.A257A VPS13C_ENST00000395896.4_Silent_p.A257A|VPS13C_ENST00000249837.3_Silent_p.A214A|VPS13C_ENST00000395898.3_Silent_p.A214A NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 257 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 CATTCCAGTAGGCGCTAAGAC 0.348000 9 100 0 0 1 0 0 MLIP 90523 broad.mit.edu 37 6 53989504 53989504 + Silent SNP A A G TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr6:53989504A>G ENST00000514921.1 + 3 566 c.453A>G c.(451-453)ccA>ccG p.P151P MLIP_ENST00000370877.2_Silent_p.P99P|MLIP_ENST00000502396.1_Silent_p.P162P|MLIP_ENST00000509997.1_Silent_p.P99P|MLIP_ENST00000274897.5_Silent_p.P151P|MLIP_ENST00000358276.5_Silent_p.P145P|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370876.2_Silent_p.P89P Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 151 nuclear envelope|PML body protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 AAGGCCCCCCAGGGGGGATTG 0.537000 6 155 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41554019 41554019 + Missense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr8:41554019C>T ENST00000396942.1 - 26 2905 c.2822G>A c.(2821-2823)cGg>cAg p.R941Q ANK1_ENST00000379758.2_Missense_Mutation_p.R941Q|ANK1_ENST00000289734.7_Missense_Mutation_p.R941Q|ANK1_ENST00000396945.1_Missense_Mutation_p.R941Q|ANK1_ENST00000265709.8_Missense_Mutation_p.R982Q|ANK1_ENST00000352337.4_Missense_Mutation_p.R941Q|ANK1_ENST00000347528.4_Missense_Mutation_p.R941Q P16157 ANK1_HUMAN ankyrin 1, erythrocytic 941 ZU5. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TGCGCACGTCCGTGGCGGGAT 0.682000 4 67 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89395333 89395333 + RNA SNP A A G TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr11:89395333A>G ENST00000532352.1 + 0 731 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 GCTTATAGGCATGGAATTGCA 0.348000 3 56 0 0 1 0 0 FNIP2 57600 broad.mit.edu 37 4 159750278 159750278 + Silent SNP A A G TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr4:159750278A>G ENST00000264433.6 + 3 357 c.282A>G c.(280-282)ggA>ggG p.G94G FNIP2_ENST00000379346.3_Silent_p.G117G|FNIP2_ENST00000505445.1_3'UTR NM_020840.1 NP_065891.1 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 94 DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) GCTGCCAGGGAagcagcagtg 0.458000 3 25 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133473446 133473446 + Missense_Mutation SNP G G A TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr3:133473446G>A ENST00000402696.3 + 4 918 c.433G>A c.(433-435)Gct>Act p.A145T TF_ENST00000264998.3_Missense_Mutation_p.A18T|TF_ENST00000475382.1_3'UTR NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 145 Transferrin-like 1. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) AGGCAGGTCCGCTGGGTGGAA 0.527000 5 371 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644386 53644386 + Silent SNP T T A TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr19:53644386T>A ENST00000452676.2 - 5 2124 c.1698A>T c.(1696-1698)ggA>ggT p.G566G ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AAGGTTTTTCTCCAGTATGGA 0.408000 8 279 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20048104 20048104 + Silent SNP A A G TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr13:20048104A>G ENST00000400230.2 - 6 386 c.342T>C c.(340-342)gcT>gcC p.A114A TPTE2_ENST00000382978.1_Silent_p.A114A|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382975.4_Silent_p.A114A|TPTE2_ENST00000382977.4_Silent_p.A114A|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000255310.6_Silent_p.A77A|TPTE2_ENST00000390680.2_Silent_p.A77A Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 114 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.A77A(1)|p.A114A(1) NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ATAAGCCAATAGCTAGAGAAA 0.333000 3 153 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89395322 89395322 + RNA SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr11:89395322C>T ENST00000532352.1 + 0 720 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTTCAGAATACGCTTATAGGC 0.343000 4 45 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41026051 41026051 + Missense_Mutation SNP G G A TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr19:41026051G>A ENST00000352632.3 + 16 3733 c.3647G>A c.(3646-3648)cGt>cAt p.R1216H SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1216H|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R1216H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1216H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1216H Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 1216 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GTGGTGCTGCGTAACCAGGTG 0.672000 3 20 0 0 1 0 0 ELOVL5 60481 broad.mit.edu 37 6 53139895 53139895 + Silent SNP G G A TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr6:53139895G>A ENST00000542638.1 - 5 936 c.489C>T c.(487-489)tgC>tgT p.C163C ELOVL5_ENST00000304434.6_Silent_p.C163C|ELOVL5_ENST00000370918.4_Silent_p.C153C|ELOVL5_ENST00000541407.1_Silent_p.C190C Q9NYP7 ELOV5_HUMAN ELOVL fatty acid elongase 5 163 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Lung NSC(77;0.116) TACAGTGGCCGCAGGGGACCC 0.517000 3 55 0 0 1 0 0 HLA-DRA 3122 broad.mit.edu 37 6 32411670 32411670 + Missense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr6:32411670C>T ENST00000395388.2 + 4 857 c.748C>T c.(748-750)Cgc>Tgc p.R250C HLA-DRA_ENST00000374982.5_Missense_Mutation_p.R225C NM_019111.4 NP_061984.2 P01903 DRA_HUMAN major histocompatibility complex, class II, DR alpha 250 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 TGCAGCAGAACGCAGGGGGCC 0.532000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of 8 115 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 3 36 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20048099 20048099 + Missense_Mutation SNP C C G TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr13:20048099C>G ENST00000400230.2 - 6 391 c.347G>C c.(346-348)gGc>gCc p.G116A TPTE2_ENST00000382978.1_Missense_Mutation_p.G116A|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382975.4_Missense_Mutation_p.G116A|TPTE2_ENST00000382977.4_Missense_Mutation_p.G116A|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000255310.6_Missense_Mutation_p.G79A|TPTE2_ENST00000390680.2_Missense_Mutation_p.G79A Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 116 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.G116A(1)|p.G79A(1) NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) AAAAAATAAGCCAATAGCTAG 0.343000 3 152 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195511959 195511959 + Silent SNP G G A TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr3:195511959G>A ENST00000463781.3 - 2 6951 c.6492C>T c.(6490-6492)acC>acT p.T2164T MUC4_ENST00000475231.1_Silent_p.T2164T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 943 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGGAAGTGTCGGTGACAGGAA 0.577000 2 4 0 0 1 0 0 TTC30B 150737 broad.mit.edu 37 2 178416303 178416303 + Missense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr2:178416303C>T ENST00000408939.2 - 1 1439 c.1189G>A c.(1189-1191)Gta>Ata p.V397I NM_152517.2 NP_689730.2 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B 397 cell projection organization cilium binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) GCTTCCTGTACTTGTATGGTA 0.448000 6 330 0 0 1 0 0 EBI3 10148 broad.mit.edu 37 19 4236975 4236975 + Missense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr19:4236975C>T ENST00000221847.5 + 5 633 c.580C>T c.(580-582)Cgg>Tgg p.R194W NM_005755.2 NP_005746.2 Q14213 IL27B_HUMAN Epstein-Barr virus induced 3 194 Fibronectin type-III 2. humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response extracellular space|plasma membrane cytokine activity|cytokine receptor activity large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGGCTGTGCGGCCCCGAGC 0.607000 3 85 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22382666 22382666 + Missense_Mutation SNP A A T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr15:22382666A>T ENST00000328795.4 + 1 285 c.194A>T c.(193-195)aAc>aTc p.N65I RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TTTCTGGGCAACTTGGCCTTC 0.463000 7 391 0 0 1 0 0 NHSL2 340527 broad.mit.edu 37 X 71360543 71360543 + Missense_Mutation SNP G G T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chrX:71360543G>T ENST00000373677.1 + 2 3309 c.2047G>T c.(2047-2049)Ggc>Tgc p.G683C NHSL2_ENST00000540800.1_Missense_Mutation_p.G1049C|NHSL2_ENST00000535692.1_Missense_Mutation_p.G683C|NHSL2_ENST00000510661.1_Missense_Mutation_p.G818C F5H593 F5H593_HUMAN NHS-like 2 1049 NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1) 28 Renal(35;0.156) TCCCGCCACCGGCGATGACCT 0.562000 3 72 1 1 1 1 0 OR4X1 390113 broad.mit.edu 37 11 48285551 48285551 + Missense_Mutation SNP A A T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr11:48285551A>T ENST00000320048.1 + 1 139 c.139A>T c.(139-141)Atc>Ttc p.I47F NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 TGTGGTGACCATCCTGGCCAG 0.493000 7 62 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13100361 13100361 + Missense_Mutation SNP T T G TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr18:13100361T>G ENST00000506447.1 + 38 6801 c.6721T>G c.(6721-6723)Ttg>Gtg p.L2241V CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.L1766V|CEP192_ENST00000325971.8_Missense_Mutation_p.L1645V NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1836 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TTTAACTCGTTTGACCTCCAA 0.363000 8 117 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120628502 120628502 + Missense_Mutation SNP G G A TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr3:120628502G>A ENST00000273666.6 + 2 348 c.77G>A c.(76-78)aGt>aAt p.S26N STXBP5L_ENST00000472879.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S26N NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 26 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AGCAGTGGCAGTAACAGTGGT 0.478000 3 66 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 3 190 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34180219 34180219 + Missense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr1:34180219C>T ENST00000373381.4 - 21 3550 c.3374G>A c.(3373-3375)cGc>cAc p.R1125H NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1085 CUB 7. 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) GCTCCACAGGCGCCGTCTGCC 0.592000 20 341 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53668940 53668940 + Missense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr19:53668940C>T ENST00000600412.1 - 2 723 c.608G>A c.(607-609)gGc>gAc p.G203D ZNF665_ENST00000396424.3_Missense_Mutation_p.G268D Q9H7R5 ZN665_HUMAN zinc finger protein 665 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) AAAGGCTTTGCCACACTCATT 0.393000 5 248 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 104 0 0 1 0 0 COIL 8161 broad.mit.edu 37 17 55016500 55016500 + Missense_Mutation SNP T T C TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr17:55016500T>C ENST00000240316.4 - 7 1697 c.1663A>G c.(1663-1665)Aaa>Gaa p.K555E NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 555 Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) ATCAACTCTTTCCAAAATACA 0.388000 6 141 0 0 1 0 0 CXXC5 51523 broad.mit.edu 37 5 139060332 139060332 + Missense_Mutation SNP G G A TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr5:139060332G>A ENST00000302517.3 + 2 938 c.224G>A c.(223-225)cGc>cAc p.R75H CXXC5_ENST00000511048.1_Missense_Mutation_p.R75H NM_016463.7 NP_057547.5 Q7LFL8 CXXC5_HUMAN CXXC finger protein 5 75 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|nucleus DNA binding|signal transducer activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCTGCGCCGCTCCCGCCCG 0.642000 4 129 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186671209 186671209 + Missense_Mutation SNP G G A TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr2:186671209G>A ENST00000343098.5 + 17 17443 c.17443G>A c.(17443-17445)Gca>Aca p.A5815T FSIP2_ENST00000424728.1_Missense_Mutation_p.A5726T NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CAGGGATTCGGCACAGTCTGT 0.368000 4 173 0 0 1 0 0 BAMBI 25805 broad.mit.edu 37 10 28970195 28970195 + Nonsense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr10:28970195C>T ENST00000375533.3 + 2 641 c.85C>T c.(85-87)Cga>Tga p.R29* NM_012342.2 NP_036474.1 Q13145 BAMBI_HUMAN BMP and activin membrane-bound inhibitor 29 cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape cytoplasm|integral to membrane|plasma membrane frizzled binding|type II transforming growth factor beta receptor binding central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 17 AGGTGAAATTCGATGCTACTG 0.433000 3 83 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86250007 86250007 + Missense_Mutation SNP T T C TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr1:86250007T>C ENST00000370571.2 - 49 4468 c.4102A>G c.(4102-4104)Aga>Gga p.R1368G COL24A1_ENST00000436319.1_Missense_Mutation_p.R1368G NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 1368 Collagen-like 16. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) CGGTGACCTCTTTTACCTTGA 0.453000 3 117 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195516162 195516162 + Silent SNP T T G TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr3:195516162T>G ENST00000463781.3 - 2 2748 c.2289A>C c.(2287-2289)tcA>tcC p.S763S MUC4_ENST00000475231.1_Silent_p.S763S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 768 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CTGTGTCAGGTGAGGTGCTGG 0.582000 7 62 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 4 84 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 6 102 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111398002 111398002 + Silent SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr4:111398002C>T ENST00000265162.5 + 1 774 c.432C>T c.(430-432)ctC>ctT p.L144L NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 144 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TCACCCGGCTCCCGGAGCTGA 0.622000 19 202 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62305292 62305292 + Silent SNP G G A TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr15:62305292G>A ENST00000261517.5 - 11 844 c.771C>T c.(769-771)gcC>gcT p.A257A VPS13C_ENST00000395898.3_Silent_p.A214A|VPS13C_ENST00000249837.3_Silent_p.A214A|VPS13C_ENST00000395896.4_Silent_p.A257A NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 257 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 CATTCCAGTAGGCGCTAAGAC 0.348000 9 100 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113380090 113380090 + Frame_Shift_Del DEL T T - TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr3:113380090delT ENST00000316407.4 - 7 849 c.439delA c.(439-441)ttfs p.I148fs KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 148 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 TAAACAATAATTTTTTTTTGA 0.373 7 170 --- --- --- --- CTD-2143L24.1 0 broad.mit.edu 37 5 9821412 9821414 + RNA DEL CAC CAC - TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr5:9821412_9821414delCAC ENST00000511616.1 - 0 521 NR_027112.2 gactcaagcacaccaccaccACC 0.483 2 4 --- --- --- --- FOXP2 93986 broad.mit.edu 37 7 114271580 114271582 + Splice_Site DEL CAG CAG - TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr7:114271580_114271582delCAG ENST00000393500.3 + 12 1192 c.e12-1 FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000393494.2_Splice_Site|FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000350908.4_Splice_Site O15409 FOXP2_HUMAN forkhead box P2 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning 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 p.?(3) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 TTTCTGATACcagcagcagcagc 0.512 2 4 --- --- --- --- VPS13A 23230 broad.mit.edu 37 9 79984308 79984308 + Frame_Shift_Del DEL T T - TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr9:79984308delT ENST00000360280.3 + 63 8907 c.8647delT c.(8647-8649)ttfs p.F2884fs VPS13A_ENST00000376634.4_Frame_Shift_Del_p.F2884fs|VPS13A_ENST00000376636.3_Frame_Shift_Del_p.F2845fs|VPS13A_ENST00000357409.5_Frame_Shift_Del_p.F2884fs NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 2884 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TGTAGAAGCATTTTTTTATGA 0.303 7 204 --- --- --- --- MYBPC3 4607 broad.mit.edu 37 11 47359101 47359103 + In_Frame_Del DEL TCT TCT - TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr11:47359101_47359103delTCT ENST00000545968.1 - 25 2495_2497 c.2441_2443delAGA c.(2440-2445)agc>a p.KS814del MYBPC3_ENST00000399249.2_In_Frame_Del_p.KS814del|MYBPC3_ENST00000256993.4_In_Frame_Del_p.KS813del NM_000256.3 NP_000247.2 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 813 Fibronectin type-III 1. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) CACCGGTAGCTCTTCTTCTTCTT 0.601 7 96 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)del p.S1468del SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1468 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ctcctcctcttcctcctcctcct 0.552 10 217 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81161713 81161713 + RNA DEL A A - rs113658800 TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr16:81161713delA ENST00000533478.1 - 0 4099 PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000525539.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CAATCAAAATAATCTTAACAC 0.438 4 2 --- --- --- --- RPTN 126638 broad.mit.edu 37 1 152128205 152128208 + Frame_Shift_Del DEL TGTC TGTC - TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr1:152128205_152128208delTGTC ENST00000316073.3 - 3 1431_1434 c.1367_1370delGACA c.(1366-1371)aafs p.RQ456fs NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 456 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ACTCTGGCCTTGTCTGTCTGTCTG 0.520 9 1513 --- --- --- --- CTD-2143L24.1 0 broad.mit.edu 37 5 9821412 9821414 + RNA DEL CAC CAC - TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr5:9821412_9821414delCAC ENST00000511616.1 - 0 521 NR_027112.2 gactcaagcacaccaccaccACC 0.483 2 4 --- --- --- --- ERICH1-AS1 0 broad.mit.edu 37 8 844731 844732 + RNA INS - - G TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr8:844731_844732insG ENST00000524139.1 + 0 151 ERICH1-AS1_ENST00000522092.1_RNA|ERICH1-AS1_ENST00000578889.1_RNA|ERICH1-AS1_ENST00000577187.1_RNA GGTGGCTGGCAGGGCAGGGTGG 0.713 2 4 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)del p.S1468del SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1468 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ctcctcctcttcctcctcctcct 0.552 10 217 --- --- --- --- BCL11B 64919 broad.mit.edu 37 14 99641544 99641546 + In_Frame_Del DEL CTC CTC - TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr14:99641544_99641546delCTC ENST00000345514.2 - 3 1680_1682 c.1414_1416delGAG c.(1414-1416)del p.E472del BCL11B_ENST00000357195.3_In_Frame_Del_p.E543del|BCL11B_ENST00000443726.2_In_Frame_Del_p.E349del NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 543 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CCAGTAGCAGctcctcctcctcc 0.700 T TLX3 T-ALL 2 4 --- --- --- --- SIGLEC8 27181 broad.mit.edu 37 19 51961617 51961619 + In_Frame_Del DEL GCA GCA - TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr19:51961617_51961619delGCA ENST00000321424.3 - 1 89_91 c.23_25delTGC c.(22-27)ccc>c p.LP8del SIGLEC8_ENST00000430817.1_In_Frame_Del_p.LP8del|SIGLEC8_ENST00000340550.5_In_Frame_Del_p.LP8del NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 8 cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CAGagcaggggcagcagcagcag 0.596 8 131 --- --- --- ---