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 BOLL 66037 broad.mit.edu 37 2 198640461 198640461 + Missense_Mutation SNP C C G TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr2:198640461C>G uc002uuu.1 - 4 677 c.298G>C c.(298-300)Gaa>Caa p.E100Q BOLL_uc002uur.2_Missense_Mutation_p.E100Q|BOLL_uc002uus.2_Missense_Mutation_p.E94Q|BOLL_uc002uut.2_Missense_Mutation_p.E106Q|BOLL_uc010zha.1_Intron NM_033030 NP_149019 Q8N9W6 BOLL_HUMAN Homo sapiens bol, boule-like (Drosophila) (BOLL), transcript variant 2, mRNA. 94 RRM. cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm RNA binding|nucleotide binding|protein binding|translation activator activity central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1) 13 TTAAGTTTTTCAGCCtaaaat 0.249000 10 39 0 0 1 0 0 LGI3 203190 broad.mit.edu 37 8 22009364 22009364 + Missense_Mutation SNP T T C TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr8:22009364T>C uc003xav.3 - 5 933 c.644A>G c.(643-645)gAg>gGg p.E215G LGI3_uc010ltu.3_Missense_Mutation_p.E191G NM_139278 NP_644807 Q8N145 LGI3_HUMAN Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA. 215 LRRCT. exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 17 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) GCAATCGAACTCCCGCAGCGG 0.647000 52 133 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19195776 19195776 + Missense_Mutation SNP T T C TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr22:19195776T>C uc021wle.1 - 21 3563 c.3488A>G c.(3487-3489)aAg>aGg p.K1163R CLTCL1_uc021wld.1_Missense_Mutation_p.K1163R|CLTCL1_uc021wlc.1_Missense_Mutation_p.K1163R|CLTCL1_uc021wlf.1_Missense_Mutation_p.K1163R|CLTCL1_uc011agw.1_Missense_Mutation_p.K1163R|CLTCL1_uc011agt.2_5'Flank|CLTCL1_uc011agu.2_5'Flank|CLTCL1_uc010grm.1_Intron|CLTCL1_uc002zpd.1_Intron|CLTCL1_uc002zpe.2_Missense_Mutation_p.K123R NM_007098 NP_009029 P53675 CLH2_HUMAN Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA. 1163 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) CTCACGGCCCTTTTTCCTGGC 0.403000 T ? ALCL 3 90 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152590391 152590391 + Missense_Mutation SNP C C A TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr6:152590391C>A uc021zhb.1 - 96 18827 c.18604G>T c.(18604-18606)Gtt>Ttt p.V6202F SYNE1_uc003qos.4_Missense_Mutation_p.V726F|SYNE1_uc003qot.4_Missense_Mutation_p.V6131F|SYNE1_uc003qou.4_Missense_Mutation_p.V6202F NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 6202 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GTTAGGTCAACATCGCTCTCC 0.562000 HNSCC(10;0.0054) 28 84 0 0 1 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004811 75004811 + Missense_Mutation SNP T T C TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chrX:75004811T>C uc004ecj.2 - 0 269 c.76A>G c.(76-78)Ata>Gta p.I26V NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA. 26 autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GTAGCTTGTATTTCACCTCTG 0.572000 19 65 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6194802 6194802 + Silent SNP G G C TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr1:6194802G>C uc001amb.2 - 18 3099 c.2988C>G c.(2986-2988)ccC>ccG p.P996P CHD5_uc001alz.2_5'Flank|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA. 996 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GGAAGAGGTAGGGGTGGTTGC 0.587000 76 195 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27538642 27538642 + Missense_Mutation SNP G G C TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr10:27538642G>C uc001its.2 - 0 2594 c.751C>G c.(751-753)Caa>Gaa p.Q251E Homo sapiens leucine rich repeat containing 37, member A family pseudogene (LOC387646), non-coding RNA. GTAACCTCTTGATATACTGGA 0.473000 20 98 0 0 1 0 0 TRIM28 10155 broad.mit.edu 37 19 59056853 59056853 + Missense_Mutation SNP C C A TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr19:59056853C>A uc002qtg.1 + 1 691 c.402C>A c.(400-402)ttC>ttA p.F134L TRIM28_uc010eut.1_Intron|TRIM28_uc002qth.1_5'Flank NM_005762 NP_005753 Q13263 TIF1B_HUMAN Homo sapiens tripartite motif containing 28 (TRIM28), mRNA. 134 RBCC domain. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) AGAATTATTTCATGCGTGATA 0.552000 4 216 0 0 1 0 0 TCF7L1 83439 broad.mit.edu 37 2 85533408 85533408 + Missense_Mutation SNP A A T TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr2:85533408A>T uc002soy.3 + 8 1294 c.1069A>T c.(1069-1071)Atg>Ttg p.M357L NM_031283 NP_112573 Q9HCS4 TF7L1_HUMAN Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA. 357 Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1) 18 CATGTTGTATATGAAGGAGAT 0.512000 22 58 0 0 1 0 0 ODZ2 57451 broad.mit.edu 37 5 167655023 167655023 + Missense_Mutation SNP T T C rs6859235 TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr5:167655023T>C uc010jjd.3 + 24 5381 c.5381T>C c.(5380-5382)aTt>aCt p.I1794T ODZ2_uc003lzr.4_Missense_Mutation_p.I1564T|ODZ2_uc003lzt.4_Missense_Mutation_p.I1167T|ODZ2_uc010jje.3_Missense_Mutation_p.I1058T NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) ACCCCCACCATTGGACGCTGC 0.512000 19 31 0 0 1 0 0 CENPW 387103 broad.mit.edu 37 6 126661490 126661490 + Missense_Mutation SNP G G A TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr6:126661490G>A uc003qao.3 + 0 238 c.71G>A c.(70-72)cGa>cAa p.R24Q NM_001012507 NP_001012525 Q5EE01 CENPW_HUMAN Homo sapiens centromere protein W (CENPW), mRNA. 24 chromosome, centromeric region|nucleus DNA binding kidney(2)|large_intestine(1)|lung(3) 6 TTTCTAAAGCGAGTCTTCAAG 0.542000 26 52 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123420311 123420311 + Silent SNP C C T TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr3:123420311C>T uc003ego.3 - 16 2718 c.2436G>A c.(2434-2436)caG>caA p.Q812Q MYLK_uc011bjw.2_Silent_p.Q812Q|MYLK_uc003egp.3_Silent_p.Q743Q|MYLK_uc003egq.3_Silent_p.Q812Q|MYLK_uc003egr.3_Silent_p.Q743Q|MYLK_uc003egs.3_Silent_p.Q636Q|MYLK_uc003egt.3_Silent_p.Q3Q NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 812 Ig-like C2-type 6. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CAGAGCTGTTCTGTAGCATCA 0.607000 32 170 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 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 25 82 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90384187 90384187 + Missense_Mutation SNP T T A TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr6:90384187T>A uc003pnn.1 - 78 12999 c.12883A>T c.(12883-12885)Atg>Ttg p.M4295L NM_014611 NP_055426 Q9NU22 MDN1_HUMAN Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA. 4295 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TGGCACTGCATGGCCAGGTGC 0.652000 9 19 0 0 1 0 0 KIAA0090 23065 broad.mit.edu 37 1 19557814 19557814 + Missense_Mutation SNP G G A TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr1:19557814G>A uc001bbo.3 - 15 1928 c.1885C>T c.(1885-1887)Ctc>Ttc p.L629F KIAA0090_uc001bbp.3_Missense_Mutation_p.L628F|KIAA0090_uc001bbq.3_Missense_Mutation_p.L628F|KIAA0090_uc001bbr.3_Missense_Mutation_p.L607F NM_015047 NP_055862 Q8N766 K0090_HUMAN Homo sapiens KIAA0090 (KIAA0090), mRNA. 629 integral to membrane protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 25 Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656) ATGACTGGGAGAAGCAAGGAC 0.502000 4 256 0 0 1 0 0 RASAL1 8437 broad.mit.edu 37 12 113541981 113541981 + Silent SNP G G A TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr12:113541981G>A uc001tun.2 - 17 2257 c.1956C>T c.(1954-1956)acC>acT p.T652T RASAL1_uc010syp.2_Silent_p.T651T|RASAL1_uc001tul.3_Silent_p.T622T|RASAL1_uc001tum.2_Silent_p.T650T|RASAL1_uc010syq.2_Silent_p.T651T|RASAL1_uc001tuo.4_Silent_p.T651T NM_001193520 NP_001180449 O95294 RASL1_HUMAN Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA. 650 PH. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|metal ion binding|phospholipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 ACTGGAGGTAGGTGGTGTGCA 0.697000 8 33 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113532726 113532726 + Missense_Mutation SNP G G C TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr12:113532726G>C uc001tuk.1 + 5 1696 c.1360G>C c.(1360-1362)Gtg>Ctg p.V454L NM_004416 NP_004407 Q86Y01 DTX1_HUMAN Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA. 454 Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 GCTGTGCCTCGTGGCCATGTA 0.657000 49 94 0 0 1 0 0 SLC4A2 6522 broad.mit.edu 37 7 150773217 150773217 + Missense_Mutation SNP G G A TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr7:150773217G>A uc022apz.1 + 21 4629 c.3589G>A c.(3589-3591)Gtg>Atg p.V1197M SLC4A2_uc003wit.4_Missense_Mutation_p.V1197M|SLC4A2_uc011kve.2_Missense_Mutation_p.V1188M|SLC4A2_uc003wiu.4_Missense_Mutation_p.V1183M|AK296065_uc011kvf.2_Silent_p.H76H NM_001199692 NP_001186621 P04920 B3A2_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA. 1197 Membrane (anion exchange). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CATCCTCACAGTGCCGCTCCG 0.637000 4 318 0 0 1 0 0 LOC642929 642929 broad.mit.edu 37 9 43140785 43140785 + RNA DEL A A - TCGA-EL-A3N3-01A-11D-A20C-08 TCGA-EL-A3N3-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654d3ec5-e7cb-464b-bf31-ad618f854ff2 9305168f-f9e0-4aa0-a2a9-709e20edff10 g.chr9:43140785delA uc004acy.4 - 4 c.737delT Homo sapiens general transcription factor II, i pseudogene (LOC642929), non-coding RNA. GGCAGAGTGGAAACTGCAACT 0.468 2 4 --- --- --- ---