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 DGKQ 1609 broad.mit.edu 37 4 959854 959854 + Nonsense_Mutation SNP G G A TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr4:959854G>A uc003gbw.3 - 12 1515 c.1441C>T c.(1441-1443)Cag>Tag p.Q481* DGKQ_uc010ibn.3_Nonsense_Mutation_p.Q481* NM_001347 NP_001338 P52824 DGKQ_HUMAN Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA. 481 Ras-associating. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane ATP binding|activating transcription factor binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) TGGCTCACCTGCCGCACAGAC 0.662000 5 4 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103908243 103908243 + Silent SNP C C T TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr10:103908243C>T uc001kum.3 + 9 4554 c.4515C>T c.(4513-4515)tcC>tcT p.S1505S PPRC1_uc001kun.3_Silent_p.S1385S|PPRC1_uc010qqj.2_Silent_p.S1241S|PPRC1_uc009xxa.3_Non-coding_Transcript NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA. 1505 Arg-rich.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus RNA binding|nucleotide binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GCTCACGATCCCCATCCCCCC 0.562000 11 90 0 0 1 0 0 C10orf137 26098 broad.mit.edu 37 10 127408456 127408456 + Missense_Mutation SNP A A T TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr10:127408456A>T uc001liq.1 + 0 373 c.80A>T c.(79-81)cAg>cTg p.Q27L FLJ37035_uc001lim.2_5'Flank|C10orf137_uc001lin.3_Missense_Mutation_p.Q27L|C10orf137_uc001lip.1_5'UTR|C10orf137_uc001lio.1_Missense_Mutation_p.Q27L NM_001202438 NP_001189367 Q3B7T1 EDRF1_HUMAN Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA. 27 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) CTCCTGTCCCAGGGAGAATCC 0.711000 12 20 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3102815 3102815 + Missense_Mutation SNP C C T TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr1:3102815C>T uc001akf.3 + 1 246 c.164C>T c.(163-165)cCc>cTc p.P55L PRDM16_uc001ake.3_Missense_Mutation_p.P55L|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Missense_Mutation_p.P55L NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA. 55 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) TCCCCCTTCCCCACCAGCGAG 0.662000 T EVI1 """MDS, AML""" 24 63 0 0 1 0 0 ALG10B 144245 broad.mit.edu 37 12 38714267 38714267 + Missense_Mutation SNP G G T TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr12:38714267G>T uc001rln.4 + 2 813 c.674G>T c.(673-675)gGa>gTa p.G225V NM_001013620 NP_001013642 Q5I7T1 AG10B_HUMAN Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA. 225 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity p.G225V(2) breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1) 25 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) CCTATTAAAGGACCATTTGCA 0.393000 8 138 0 0 1 0 0 CYB5D1 124637 broad.mit.edu 37 17 7761468 7761468 + Silent SNP C C T TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr17:7761468C>T uc002gjb.4 + 0 405 c.16C>T c.(16-18)Ctg>Ttg p.L6L LSMD1_uc002giz.3_5'Flank|LSMD1_uc002gja.3_5'Flank|CYB5D1_uc021tpi.1_5'Flank NM_144607 NP_653208 Q6P9G0 CB5D1_HUMAN Homo sapiens cytochrome b5 domain containing 1 (CYB5D1), mRNA. 6 heme binding breast(1)|endometrium(1)|large_intestine(2)|skin(2) 6 all_cancers(10;0.11)|Prostate(122;0.219) GCGCCGGGGCCTGGTGGCTGG 0.587000 25 63 0 0 1 0 0 MORF4L2 9643 broad.mit.edu 37 X 102931475 102931475 + Missense_Mutation SNP C C T TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chrX:102931475C>T uc004ekw.3 - 3 1713 c.481G>A c.(481-483)Gag>Aag p.E161K MORF4L2_uc004ela.3_Missense_Mutation_p.E161K|MORF4L2_uc004elb.3_Missense_Mutation_p.E161K|MORF4L2_uc004ekx.3_Missense_Mutation_p.E161K|MORF4L2_uc004eky.3_Missense_Mutation_p.E161K|MORF4L2_uc010nos.3_Missense_Mutation_p.E161K|MORF4L2_uc004ekz.3_Missense_Mutation_p.E161K|MORF4L2_uc011mry.2_Missense_Mutation_p.E161K|MORF4L2_uc011mrz.2_Missense_Mutation_p.E161K|MORF4L2_uc004elc.3_Missense_Mutation_p.E161K|MORF4L2_uc004ele.3_Missense_Mutation_p.E161K|MORF4L2_uc004elf.3_Missense_Mutation_p.E161K|MORF4L2_uc011msa.2_Missense_Mutation_p.E161K|MORF4L2_uc011msb.2_Missense_Mutation_p.E161K|MORF4L2_uc011msc.2_Missense_Mutation_p.E161K|MORF4L2_uc011msd.2_Missense_Mutation_p.E161K|MORF4L2_uc004eld.3_Missense_Mutation_p.E161K|MORF4L2_uc022cbw.1_Missense_Mutation_p.E161K NM_012286 NP_036418 Q15014 MO4L2_HUMAN Homo sapiens mortality factor 4 like 2 (MORF4L2), transcript variant 2, mRNA. 161 DNA repair|chromatin modification|regulation of cell growth|transcription, DNA-dependent nucleolus protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7) 13 TTTGCATACTCCTCCAGAATT 0.388000 61 158 0 0 1 0 0 CHCHD2 51142 broad.mit.edu 37 7 56172116 56172116 + Missense_Mutation SNP G G T TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr7:56172116G>T uc003tsa.3 - 1 184 c.103C>A c.(103-105)Cca>Aca p.P35T PSPH_uc003trj.3_Intron NM_016139 NP_057223 Q9Y6H1 CHCH2_HUMAN Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2), nuclear gene encoding mitochondrial protein, mRNA. 35 mitochondrion endometrium(1)|large_intestine(1)|lung(3) 5 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GCCGCTGCTGGTGGCTGAGCG 0.597000 4 10 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 22 47 0 0 1 0 0 UGT2A1 10941 broad.mit.edu 37 4 70464983 70464983 + Missense_Mutation SNP G G A TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr4:70464983G>A uc011caq.2 - 3 1591 c.1475C>T c.(1474-1476)cCt>cTt p.P492L UGT2A1_uc010ihu.3_Missense_Mutation_p.P326L|UGT2A1_uc003hem.4_Missense_Mutation_p.P282L|UGT2A1_uc010ihs.3_Missense_Mutation_p.P291L|UGT2A1_uc021xox.1_Missense_Mutation_p.P291L|UGT2A1_uc010iht.3_Missense_Mutation_p.P282L NM_001252274 NP_001239203 Q9Y4X1 UD2A1_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA. 282 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 AGGTTTGGCAGGTTTGCAGTG 0.348000 5 39 0 0 1 0 0 RGS18 64407 broad.mit.edu 37 1 192150498 192150498 + Silent SNP A A G TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr1:192150498A>G uc001gsg.3 + 3 536 c.360A>G c.(358-360)gaA>gaG p.E120E NM_130782 NP_570138 Q9NS28 RGS18_HUMAN Homo sapiens regulator of G-protein signaling 18 (RGS18), mRNA. 120 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TAGCCTGTGAAGATTTCAAGA 0.313000 3 35 0 0 1 0 0 GPR119 139760 broad.mit.edu 37 X 129519127 129519127 + Missense_Mutation SNP T T G TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chrX:129519127T>G uc011muv.2 - 0 385 c.295A>C c.(295-297)Atc>Ctc p.I99L NM_178471 NP_848566 Q8TDV5 GP119_HUMAN Homo sapiens G protein-coupled receptor 119 (GPR119), mRNA. 99 integral to membrane|plasma membrane lipid binding p.I99M(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1) 11 TCAAAGGTGATCAGCATGACC 0.592000 52 114 0 0 1 0 0 FGF20 26281 broad.mit.edu 37 8 16850687 16850687 + Missense_Mutation SNP T T C TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr8:16850687T>C uc003wxc.1 - 2 663 c.530A>G c.(529-531)gAt>gGt p.D177G FGF20_uc010lsw.1_3'UTR NM_019851 NP_062825 Q9NP95 FGF20_HUMAN Homo sapiens fibroblast growth factor 20 (FGF20), mRNA. 177 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway extracellular region|soluble fraction growth factor activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 11 Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207) CCTGGCGCCATCTCTTGGAGT 0.428000 39 91 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179436988 179436988 + Missense_Mutation SNP G G A TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr2:179436988G>A uc021vsy.1 - 274 66392 c.66167C>T c.(66166-66168)aCt>aTt p.T22056I MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T15751I|TTN_uc021vta.1_Missense_Mutation_p.T15684I|TTN_uc021vtb.1_Missense_Mutation_p.T15559I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 22983 Ig-like 115. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATCCATCAAAGTTATTTTTCC 0.468000 9 30 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152325310 152325310 + Missense_Mutation SNP G G T TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr1:152325310G>T uc001ezw.4 - 2 5025 c.4952C>A c.(4951-4953)tCt>tAt p.S1651Y AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 1651 calcium ion binding|structural molecule activity p.S1651Y(2)|p.R1650I(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACTGTGGCTAGATCTCTGTCT 0.512000 111 298 0 0 1 0 0 MICALL1 85377 broad.mit.edu 37 22 38318081 38318081 + Silent SNP G G A TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr22:38318081G>A uc003aui.3 + 5 947 c.672G>A c.(670-672)ggG>ggA p.G224G NM_033386 NP_203744 Q8N3F8 MILK1_HUMAN Homo sapiens MICAL-like 1 (MICALL1), mRNA. 224 LIM zinc-binding. cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) TGGGCCCGGGGACACGGTCGG 0.652000 4 40 0 0 1 0 0 ZC3H3 23144 broad.mit.edu 37 8 144548018 144548018 + Splice_Site SNP T T A TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr8:144548018T>A uc003yyd.2 - 9 2205 c.2176_splice c.e9-1 p.M726_splice NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA. 726 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CACACCGGCATCTGCAGGGAG 0.652000 3 17 0 0 1 0 0 RRBP1 6238 broad.mit.edu 37 20 17601284 17601285 + Frame_Shift_Ins INS - - A TCGA-EL-A3CU-01A-11D-A19J-08 TCGA-EL-A3CU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fbab446-f05f-4385-ac05-7566aa524929 e62e18f2-a371-4ed6-99d9-7c9e705a81a7 g.chr20:17601284_17601285insA uc010gcm.1 - 7 1000_1001 c.642_643insT c.(640-645)tctgtcfs p.S214fs RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_Intron|RRBP1_uc002wpu.3_Intron|RRBP1_uc002wpw.1_Intron|RRBP1_uc010gcl.1_Intron|RRBP1_uc002wpv.1_Intron Q9P2E9 RRBP1_HUMAN Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA. 889 41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS]. protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 TCACAGGTGACAGAGACAATCC 0.624 4 7 --- --- --- ---