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 PI4KB 5298 broad.mit.edu 37 1 151265387 151265387 + Missense_Mutation SNP G A A TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr1:151265387G>A uc001ext.2 - 12 2807 c.2392C>T c.(2392-2394)CGG>TGG p.R798W PI4KB_uc001exr.2_Missense_Mutation_p.R810W|PI4KB_uc001exs.2_Missense_Mutation_p.R783W|PI4KB_uc001exu.2_Missense_Mutation_p.R783W|PI4KB_uc010pcw.1_Missense_Mutation_p.R466W NM_002651 NP_002642 Q9UBF8 PI4KB_HUMAN catalytic phosphatidylinositol 4-kinase beta 798 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding ovary(2)|skin(2) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GTGATAGACCGCATACTGCCA 0.577 DUSP27 92235 broad.mit.edu 37 1 167097496 167097496 + Missense_Mutation SNP G A A TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr1:167097496G>A uc001geb.1 + 5 3128 c.3128G>A c.(3127-3129)CGC>CAC p.R1043H NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 1043 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 TACTTCTTCCGCCGGACCCCA 0.587 TNN 63923 broad.mit.edu 37 1 175097757 175097757 + Missense_Mutation SNP G A A TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr1:175097757G>A uc001gkl.1 + 15 3318 c.3205G>A c.(3205-3207)GAC>AAC p.D1069N NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 1069 Fibrinogen C-terminal. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) ACACCCTTCGGACTGCAGTCA 0.547 CFHR5 81494 broad.mit.edu 37 1 196964976 196964976 + Missense_Mutation SNP C G G TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr1:196964976C>G uc001gts.3 + 5 865 c.737C>G c.(736-738)CCT>CGT p.P246R NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor 246 Sushi 4. complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 ATAAACGGGCCTAAGAAAATA 0.333 DDX59 83479 broad.mit.edu 37 1 200635187 200635187 + Missense_Mutation SNP G A A TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr1:200635187G>A uc009wzk.2 - 2 925 c.682C>T c.(682-684)CCC>TCC p.P228S DDX59_uc010ppl.1_Missense_Mutation_p.P228S NM_001031725 NP_001026895 Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 228 Q motif. intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding ovary(2)|breast(1)|central_nervous_system(1) 4 ATTTGAATGGGAGTTGGCACC 0.458 PRKCQ 5588 broad.mit.edu 37 10 6470257 6470257 + Missense_Mutation SNP G A A TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr10:6470257G>A uc001ijj.1 - 18 2108 c.2033C>T c.(2032-2034)GCC>GTC p.A678V PRKCQ_uc009xim.1_Missense_Mutation_p.A615V|PRKCQ_uc001iji.1_Missense_Mutation_p.A711V|PRKCQ_uc009xin.1_Missense_Mutation_p.A642V|PRKCQ_uc010qax.1_Missense_Mutation_p.A553V NM_006257 NP_006248 Q04759 KPCT_HUMAN protein kinase C, theta 678 AGC-kinase C-terminal. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity ovary(3)|lung(2)|large_intestine(1) 6 TGCTCTGTCGGCAAATGACAG 0.458 SF1 7536 broad.mit.edu 37 11 64537812 64537812 + Missense_Mutation SNP C T T TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr11:64537812C>T uc001obb.1 - 4 682 c.305G>A c.(304-306)CGC>CAC p.R102H SF1_uc010rnm.1_5'Flank|SF1_uc010rnn.1_Missense_Mutation_p.R76H|SF1_uc001oaz.1_Missense_Mutation_p.R227H|SF1_uc001oba.1_Missense_Mutation_p.R102H|SF1_uc001obc.1_Missense_Mutation_p.R102H|SF1_uc001obd.1_Missense_Mutation_p.R102H|SF1_uc001obe.1_5'UTR|SF1_uc010rno.1_5'UTR NM_004630 NP_004621 Q15637 SF01_HUMAN splicing factor 1 isoform 1 102 nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding ovary(1)|breast(1)|skin(1) 3 CAGCTTTTTGCGGGTGCGGAA 0.547 SFRS2IP 9169 broad.mit.edu 37 12 46320707 46320708 + Frame_Shift_Del DEL TC - - TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr12:46320707_46320708delTC uc001rox.2 - 11 3063_3064 c.2776_2777delGA c.(2776-2778)GAAfs p.E926fs SFRS2IP_uc001row.2_Frame_Shift_Del_p.E611fs|SFRS2IP_uc001roy.1_Frame_Shift_Del_p.E1000fs NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 926 Arg-rich. spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) GGTTCTCCTTTCTCTCTCTCTC 0.446 KRT7 3855 broad.mit.edu 37 12 52639222 52639222 + Silent SNP C T T TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr12:52639222C>T uc001saa.1 + 7 1138 c.1011C>T c.(1009-1011)GCC>GCT p.A337A KRT7_uc009zmf.1_Intron NM_005556 NP_005547 P08729 K2C7_HUMAN keratin 7 337 Rod.|Coil 2. cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.105) CCGCCATTGCCGAGGCTGAGG 0.662 HOXC11 3227 broad.mit.edu 37 12 54367422 54367422 + Missense_Mutation SNP A C C TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr12:54367422A>C uc001sem.2 + 1 513 c.397A>C c.(397-399)ACC>CCC p.T133P NM_014212 NP_055027 O43248 HXC11_HUMAN homeobox C11 133 endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CCCGCACGCAACCCCCGCCGG 0.642 T NUP98 AML MYO1A 4640 broad.mit.edu 37 12 57431824 57431824 + Missense_Mutation SNP C T T TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr12:57431824C>T uc001smw.3 - 18 2033 c.1790G>A c.(1789-1791)CGA>CAA p.R597Q MYO1A_uc010sqz.1_Missense_Mutation_p.R435Q|MYO1A_uc009zpd.2_Missense_Mutation_p.R597Q NM_005379 NP_005370 Q9UBC5 MYO1A_HUMAN myosin IA 597 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|urinary_tract(1) 7 GAACTGACCTCGCTGCTGATG 0.592 SELPLG 6404 broad.mit.edu 37 12 109017957 109017957 + Frame_Shift_Del DEL C - - TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr12:109017957delC uc001tni.2 - 2 287 c.127delG c.(127-129)GCCfs p.A43fs SELPLG_uc001tnh.2_Frame_Shift_Del_p.A43fs|SELPLG_uc010sxe.1_Frame_Shift_Del_p.A59fs NM_003006 NP_002997 Q14242 SELPL_HUMAN selectin P ligand 43 Extracellular (Potential). blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding 0 TATTCGGTGGCCTGTCTCCGG 0.582 FOXG1 2290 broad.mit.edu 37 14 29236962 29236988 + In_Frame_Del DEL GGGCGAGGGCGGCAAGGACGGGGAGGG - - rs148157138 byFrequency TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr14:29236962_29236988delGGGCGAGGGCGGCAAGGACGGGGAGGG uc001wqe.2 + 1 676_702 c.477_503delGGGCGAGGGCGGCAAGGACGGGGAGGG c.(475-504)GCGGGCGAGGGCGGCAAGGACGGGGAGGGG>GCG p.GEGGKDGEG160del NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 160_168 Gly-rich. axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) agaagggggcgggcgagggcggcaaggacggggaggggggcaaggag 0.401 KRT222 125113 broad.mit.edu 37 17 38812794 38812794 + Nonsense_Mutation SNP G A A TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr17:38812794G>A uc002hvc.2 - 6 813 c.748C>T c.(748-750)CGA>TGA p.R250* KRT222_uc010wfk.1_RNA|KRT222_uc002hvb.2_Nonsense_Mutation_p.R210* NM_152349 NP_689562 Q8N1A0 KT222_HUMAN truncated type I keratin KA21 250 intermediate filament structural molecule activity central_nervous_system(1)|skin(1) 2 AGATCAAATCGAAGAGAAACA 0.368 ACPT 93650 broad.mit.edu 37 19 51295399 51295399 + Missense_Mutation SNP G A A TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr19:51295399G>A uc002pta.1 + 5 520 c.520G>A c.(520-522)GAG>AAG p.E174K NM_033068 NP_149059 Q9BZG2 PPAT_HUMAN testicular acid phosphatase precursor 174 Extracellular (Potential). integral to membrane acid phosphatase activity 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CGAGGCCGCCGAGTACCAGGA 0.612 ZNF470 388566 broad.mit.edu 37 19 57089037 57089037 + Nonsense_Mutation SNP C T T TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr19:57089037C>T uc002qnl.3 + 6 1916 c.1240C>T c.(1240-1242)CAG>TAG p.Q414* ZNF470_uc010etn.2_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN zinc finger protein 470 414 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) AGGACTTATTCAGCATAAGAG 0.413 ZRANB3 84083 broad.mit.edu 37 2 135965224 135965224 + Missense_Mutation SNP G T T TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr2:135965224G>T uc002tum.2 - 19 2906 c.2789C>A c.(2788-2790)TCT>TAT p.S930Y ZRANB3_uc002tuk.2_Missense_Mutation_p.S473Y|ZRANB3_uc002tul.2_Missense_Mutation_p.S928Y NM_032143 NP_115519 Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 930 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.135) TGAATCCCAAGAGTTCGCTTT 0.428 PRKRA 8575 broad.mit.edu 37 2 179296970 179296970 + Missense_Mutation SNP C T T rs148050153 TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr2:179296970C>T uc002umf.2 - 8 997 c.796G>A c.(796-798)GCC>ACC p.A266T PRKRA_uc002umc.2_Missense_Mutation_p.A98T|PRKRA_uc002umd.2_Missense_Mutation_p.A241T|PRKRA_uc002ume.2_Missense_Mutation_p.A255T|PRKRA_uc002umg.2_Missense_Mutation_p.A153T|uc002umb.1_Intron|PRKRA_uc002umh.1_RNA NM_003690 NP_003681 O75569 PRKRA_HUMAN protein kinase, interferon-inducible double 266 DRBM 3.|Sufficient for self-association and interaction with TARBP2. immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus perinuclear region of cytoplasm double-stranded RNA binding|enzyme activator activity|protein homodimerization activity central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265) TGTCCATTGGCGCTCAGTTCA 0.418 UMODL1 89766 broad.mit.edu 37 21 43519223 43519223 + Silent SNP G A A TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr21:43519223G>A uc002zaf.1 + 7 1119 c.1119G>A c.(1117-1119)CTG>CTA p.L373L UMODL1_uc002zad.1_Silent_p.L301L|UMODL1_uc002zae.1_Silent_p.L301L|UMODL1_uc002zag.1_Silent_p.L373L|UMODL1_uc010gow.1_Silent_p.L165L|UMODL1_uc002zai.1_Silent_p.L24L|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Silent_p.L24L|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Silent_p.L118L NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 373 Extracellular (Potential).|Fibronectin type-III 1. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 CTGGAGTGCTGTACAGGGTGA 0.612 ITGB2 3689 broad.mit.edu 37 21 46330269 46330269 + Missense_Mutation SNP G A A rs148038936 by1000genomes TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr21:46330269G>A uc002zgd.2 - 2 121 c.77C>T c.(76-78)ACG>ATG p.T26M ITGB2_uc002zge.2_Missense_Mutation_p.T26M|ITGB2_uc002zgf.3_Missense_Mutation_p.T26M|ITGB2_uc011afl.1_Translation_Start_Site|ITGB2_uc010gpw.2_Missense_Mutation_p.T26M|ITGB2_uc002zgg.2_Missense_Mutation_p.T26M NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor 26 Extracellular (Potential). apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity ovary(4)|central_nervous_system(3)|breast(2) 9 Colorectal(79;0.0669) Simvastatin(DB00641) CTTGAACTTCGTGCACTCCTG 0.657 SLC35E4 339665 broad.mit.edu 37 22 31042730 31042730 + Missense_Mutation SNP G T T TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr22:31042730G>T uc003ais.1 + 2 1410 c.765G>T c.(763-765)TGG>TGT p.W255C SLC35E4_uc003ait.2_Intron NM_001001479 NP_001001479 Q6ICL7 S35E4_HUMAN solute carrier family 35, member E4 255 Leu-rich. integral to membrane 0 CTCGCCTCTGGGCCTGCATCC 0.677 RAD54L2 23132 broad.mit.edu 37 3 51690054 51690054 + Missense_Mutation SNP C T T TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr3:51690054C>T uc011bdt.1 + 19 3219 c.3094C>T c.(3094-3096)CCC>TCC p.P1032S RAD54L2_uc003dbh.2_Missense_Mutation_p.P621S|RAD54L2_uc011bdu.1_Missense_Mutation_p.P726S|RAD54L2_uc003dbj.2_Missense_Mutation_p.P358S NM_015106 NP_055921 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 1032 nucleus ATP binding|DNA binding|helicase activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) CACCCCCATCCCCATGATGCC 0.522 RAP2B 5912 broad.mit.edu 37 3 152880771 152880771 + Missense_Mutation SNP C T T TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr3:152880771C>T uc003ezr.2 + 1 743 c.289C>T c.(289-291)CGG>TGG p.R97W NM_002886 NP_002877 P61225 RAP2B_HUMAN RAP2B, member of RAS oncogene family precursor 97 Rap protein signal transduction|regulation of protein tyrosine kinase activity recycling endosome membrane GTP binding|GTPase activity lung(2) 2 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) CAAGCCCATGCGGGACCAGAT 0.617 NLGN1 22871 broad.mit.edu 37 3 173998531 173998531 + Missense_Mutation SNP G C C TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr3:173998531G>C uc003fio.1 + 7 2333 c.1910G>C c.(1909-1911)AGA>ACA p.R637T NLGN1_uc003fip.1_Missense_Mutation_p.R637T NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 654 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) ATCACTTTCAGACCTACGAGA 0.433 ALB 213 broad.mit.edu 37 4 74274453 74274453 + Missense_Mutation SNP G A A TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr4:74274453G>A uc003hgs.3 + 4 486 c.413G>A c.(412-414)CGA>CAA p.R138Q ALB_uc003hgw.3_Intron|ALB_uc011cbe.1_Intron|ALB_uc003hgt.3_Missense_Mutation_p.R138Q|ALB_uc010iii.2_Intron|ALB_uc003hgu.3_Intron|ALB_uc003hgv.3_Intron|ALB_uc011cbf.1_Missense_Mutation_p.R28Q|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'Flank NM_000477 NP_000468 P02768 ALBU_HUMAN albumin preproprotein 138 Albumin 1. R -> G (in Yanomama-2). bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding ovary(3)|skin(3) 6 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) AACCTCCCCCGATTGGTGAGA 0.398 PCDHB5 26167 broad.mit.edu 37 5 140516934 140516934 + Missense_Mutation SNP G A A TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr5:140516934G>A uc003liq.2 + 1 2135 c.1918G>A c.(1918-1920)GTG>ATG p.V640M NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 640 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCACAGGCTGGTGGTGCTGGT 0.706 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr7:140453136A>T uc003vwc.3 - 15 1860 c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 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(16892)|p.V600?(325)|p.V600K(176)|p.V600R(36)|p.V600M(25)|p.V600A(23)|p.V600D(21)|p.V600G(11)|p.V600_K601>E(8)|p.T599_V600insTT(3)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600L(2)|p.T599_V600insT(2)|p.V600_W604del(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insV(1)|p.T599_V600insDFGLAT(1) KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368 V600E(UACC257_SKIN)|V600D(K029AX_SKIN)|V600E(HS695T_SKIN)|V600E(COLO679_SKIN)|V600E(BT474_BREAST)|V600E(IGR39_SKIN)|V600E(A101D_SKIN)|V600E(COLO783_SKIN)|V600E(IGR37_SKIN)|V600E(A375_SKIN)|V600E(WM793_SKIN)|V600E(COLO818_SKIN)|V600E(HS294T_SKIN)|V600E(SKMEL28_SKIN)|V600E(DU4475_BREAST)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(IGR1_SKIN)|V600E(SKHEP1_LIVER)|V600E(WM983B_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(RVH421_SKIN)|V600D(WM2664_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(SKMEL24_SKIN)|V600D(WM115_SKIN)|V600E(MALME3M_SKIN)|V600E(A673_BONE)|V600E(C32_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO800_SKIN)|V600E(COLO741_SKIN)|V600E(HS939T_SKIN)|V600E(COLO205_LARGE_INTESTINE)|V600E(K029AX_SKIN)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(SH4_SKIN)|V600E(WM88_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO849_SKIN)|V600E(MELHO_SKIN)|V600E(BHT101_THYROID)|V600E(G361_SKIN)|V600E(UACC62_SKIN)|V600E(BCPAP_THYROID)|V600E(8505C_THYROID)|V600E(SW1417_LARGE_INTESTINE)|V600E(COLO829_SKIN)|V600E(RKO_LARGE_INTESTINE)|V600E(A2058_SKIN)|V600E(RPMI7951_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(SKMEL5_SKIN)|V600E(ES2_OVARY)|V600E(LOXIMVI_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 NFIB 4781 broad.mit.edu 37 9 14150145 14150145 + Missense_Mutation SNP T C C TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr9:14150145T>C uc003zle.2 - 5 1240 c.805A>G c.(805-807)AGC>GGC p.S269G NFIB_uc003zld.2_Missense_Mutation_p.S17G|NFIB_uc003zlf.2_Missense_Mutation_p.S269G|NFIB_uc011lmo.1_Missense_Mutation_p.S269G NM_005596 NP_005587 O00712 NFIB_HUMAN nuclear factor I/B 269 anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity 0 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) TTTCAGTACCTGCTTGGTGGA 0.328 T MYB|HGMA2 adenoid cystic carcinoma|lipoma FLJ46321 389763 broad.mit.edu 37 9 84609194 84609194 + Missense_Mutation SNP A G G TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr9:84609194A>G uc004amn.2 + 4 3856 c.3809A>G c.(3808-3810)CAG>CGG p.Q1270R NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 1270 integral to membrane 0 GCACAGAAGCAGGAGCCCAGG 0.537 TNC 3371 broad.mit.edu 37 9 117844148 117844148 + Silent SNP C T T TCGA-06-0151-01A-01D-1491-08 TCGA-06-0151-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 5fea9ebc-8c1b-4078-af87-79c7f5b5470b 5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5 g.chr9:117844148C>T uc004bjj.3 - 6 2669 c.2307G>A c.(2305-2307)CGG>CGA p.R769R TNC_uc010mvf.2_Silent_p.R769R NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 769 Fibronectin type-III 2. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 GACCAGTTTGCCGGTAAGAGG 0.522