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 SLC5A5 6528 broad.mit.edu 37 19 18001785 18001785 + Missense_Mutation SNP C C G TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr19:18001785C>G ENST00000222248.3 + 14 2089 c.1742C>G c.(1741-1743)gCc>gGc p.A581G NM_000453.2 NP_000444.1 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium/iodide cotransporter), member 5 581 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GAAGAAGTGGCCATCCTGGAT 0.612000 52 84 0 0 0.003610 0 0 CCDC88C 440193 broad.mit.edu 37 14 91770293 91770293 + Silent SNP G G A TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr14:91770293G>A ENST00000389857.6 - 20 3473 c.3387C>T c.(3385-3387)agC>agT p.S1129S NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1129 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association p.S1129S(1) central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TGAGCGCTGCGCTCTGGGAAC 0.657000 40 56 0 0 0.003214 0 0 HKDC1 80201 broad.mit.edu 37 10 71026453 71026453 + Silent SNP A A G TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr10:71026453A>G ENST00000354624.5 + 18 2827 c.2694A>G c.(2692-2694)aaA>aaG p.K898K RP11-227H15.5_ENST00000413220.1_RNA NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 898 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity p.K898K(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 GCAGTGGAAAAGGGGCAGCAC 0.478000 3 164 0 0 0.004672 0 0 GPR174 84636 broad.mit.edu 37 X 78426795 78426795 + Silent SNP G G A TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chrX:78426795G>A ENST00000276077.1 + 1 327 c.291G>A c.(289-291)ctG>ctA p.L97L NM_032553.1 NP_115942.1 Q9BXC1 GP174_HUMAN G protein-coupled receptor 174 97 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 GTTTCTACCTGAAGTATGTCA 0.448000 HNSCC(63;0.18) 48 71 0 0 0.002852 0 0 RNFT1 51136 broad.mit.edu 37 17 58034708 58034708 + Silent SNP T T C TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr17:58034708T>C ENST00000305783.8 - 6 937 c.882A>G c.(880-882)caA>caG p.Q294Q RP11-178C3.1_ENST00000591035.1_Intron|RNFT1_ENST00000442346.2_3'UTR NM_016125.3 NP_057209.3 Q5M7Z0 RNFT1_HUMAN ring finger protein, transmembrane 1 294 integral to membrane zinc ion binding large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;7.95e-12)|all cancers(12;1.34e-10) TTCGGTAGTATTGACACAATT 0.368000 37 42 0 0 0.005524 0 0 DDX39A 10212 broad.mit.edu 37 19 14523412 14523412 + Missense_Mutation SNP G G A TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr19:14523412G>A ENST00000242776.4 - 3 388 c.287C>T c.(286-288)gCg>gTg p.A96V DDX39A_ENST00000454233.2_Missense_Mutation_p.A96V NM_005804.3 NP_005795.2 O00148 DX39A_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A 96 Helicase ATP-binding. mRNA export from nucleus|nuclear mRNA splicing, via spliceosome nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1) 11 CACGAAGACCGCTGTCTTGCC 0.642000 13 53 0 0 0.001855 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074431 76074431 + RNA SNP C C T rs149323153 by1000genomes TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr15:76074431C>T ENST00000395215.3 + 0 610 p.S190L(2) CTCCAGTCCTCGAGCTGCAGA 0.547000 4 35 0 0 0.006214 0 0 CASR 846 broad.mit.edu 37 3 121980542 121980542 + Silent SNP G G A TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr3:121980542G>A ENST00000498619.1 + 4 1098 c.660G>A c.(658-660)cgG>cgA p.R220R CASR_ENST00000490131.1_Silent_p.R220R|CASR_ENST00000296154.5_Silent_p.R220R NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 220 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) ACTATGGGCGGCCGGGGATTG 0.532000 4 202 0 0 0.000248 0 0 SERPINH1 871 broad.mit.edu 37 11 75277986 75277986 + Missense_Mutation SNP G G A TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr11:75277986G>A ENST00000524558.1 + 2 2027 c.592G>A c.(592-594)Gcc>Acc p.A198T SERPINH1_ENST00000530284.1_Missense_Mutation_p.A198T|SERPINH1_ENST00000358171.3_Missense_Mutation_p.A198T|SERPINH1_ENST00000533603.1_Missense_Mutation_p.A198T P50454 SERPH_HUMAN serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 198 regulation of proteolysis|response to unfolded protein endoplasmic reticulum lumen|ER-Golgi intermediate compartment collagen binding|serine-type endopeptidase inhibitor activity endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1) 15 Ovarian(111;0.11) CACGGACGGCGCCCTGCTAGT 0.657000 29 45 0 0 0.002836 0 0 DNAJC1 64215 broad.mit.edu 37 10 22048118 22048118 + Missense_Mutation SNP C C T TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr10:22048118C>T ENST00000376980.3 - 11 1867 c.1577G>A c.(1576-1578)tGt>tAt p.C526Y NM_022365.3 NP_071760.2 Q96KC8 DNJC1_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 1 526 SANT 2. negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2) 21 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) GGACGGGACACATCTGGCTAT 0.547000 85 137 0 0 0.003610 0 0 REXO1 57455 broad.mit.edu 37 19 1820359 1820359 + Silent SNP C C A TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr19:1820359C>A ENST00000170168.4 - 6 2524 c.2430G>T c.(2428-2430)ggG>ggT p.G810G NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 810 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGACTTTGCCCCCAAACTCTT 0.547000 4 173 0.00116845 0.00155793 0.001168 1 0 CRIPAK 285464 broad.mit.edu 37 4 1389234 1389234 + Missense_Mutation SNP G G A rs71299249 TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr4:1389234G>A ENST00000324803.4 + 1 3895 c.935G>A c.(934-936)tGc>tAc p.C312Y NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 312 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding p.P310fs*95(1) NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GTGCCCGCCTGCTCACGTGCC 0.667000 8 428 0 0 0.006214 0 0 SEC22C 9117 broad.mit.edu 37 3 42597460 42597460 + Silent SNP G G A TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr3:42597460G>A ENST00000273156.7 - 6 882 c.673C>T c.(673-675)Ctg>Ttg p.L225L SEC22C_ENST00000264454.3_Silent_p.L225L|SEC22C_ENST00000536332.1_Silent_p.L155L|SEC22C_ENST00000417572.1_Silent_p.L225L|SEC22C_ENST00000423701.2_Intron NM_004206.3|NM_032970.3 NP_004197.1|NP_116752.1 Q9BRL7 SC22C_HUMAN SEC22 vesicle trafficking protein homolog C (S. cerevisiae) 225 ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(2) 3 KIRC - Kidney renal clear cell carcinoma(284;0.222) AGAAAAGCCAGAATGTTTCCA 0.383000 22 28 0 0 0.003954 0 0 ADAM8 101 broad.mit.edu 37 10 135084771 135084771 + Missense_Mutation SNP T T C TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr10:135084771T>C ENST00000445355.3 - 13 1357 c.1307A>G c.(1306-1308)aAc>aGc p.N436S ADAM8_ENST00000415217.3_Missense_Mutation_p.N436S|ADAM8_ENST00000485491.2_Missense_Mutation_p.N397S NM_001109.4 NP_001100.3 B4DVM6 B4DVM6_HUMAN ADAM metallopeptidase domain 8 397 integrin-mediated signaling pathway|proteolysis metalloendopeptidase activity central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2) 17 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05) GGTGGTAGAGTTGCAGCAGCG 0.706000 12 18 0 0 0.001855 0 0 GRIN2A 0 broad.mit.edu 37 16 9923438 9923438 + Missense_Mutation SNP C C A TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr16:9923438C>A ENST00000396573.2 - 10 2158 c.1849G>T c.(1849-1851)Gtg>Ttg p.V617L GRIN2A_ENST00000404927.2_Missense_Mutation_p.V617L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V617L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V617L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V460L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V617L NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 617 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGGACAGGCACGGAGTTATTG 0.488000 32 59 2.42023e-17 3.33825e-17 0.003271 1 0 SENP6 26054 broad.mit.edu 37 6 76385768 76385768 + Missense_Mutation SNP C C G TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr6:76385768C>G ENST00000370014.3 + 13 2238 c.1619C>G c.(1618-1620)aCa>aGa p.T540R SENP6_ENST00000327284.8_Missense_Mutation_p.T533R|SENP6_ENST00000370010.2_Missense_Mutation_p.T533R|SENP6_ENST00000541192.1_Missense_Mutation_p.T136R|SENP6_ENST00000447266.2_Missense_Mutation_p.T540R NM_001100409.1 NP_001093879.1 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 540 proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(105;0.189) AATAAATTAACAAGTAAGTTG 0.303000 9 26 0 0 0.006214 0 0 LAMB1 3912 broad.mit.edu 37 7 107594163 107594163 + Missense_Mutation SNP C C T TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr7:107594163C>T ENST00000393561.1 - 20 3147 c.2963G>A c.(2962-2964)gGc>gAc p.G988D LAMB1_ENST00000222399.6_Missense_Mutation_p.G964D P07942 LAMB1_HUMAN laminin, beta 1 964 Laminin EGF-like 10. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGATGGATTGCCAAAGTATCC 0.502000 8 119 0 0 0.006214 0 0 VTN 7448 broad.mit.edu 37 17 26696674 26696674 + Missense_Mutation SNP C C G TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr17:26696674C>G ENST00000226218.4 - 3 1001 c.383G>C c.(382-384)gGc>gCc p.G128A CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron|SEBOX_ENST00000536498.1_5'UTR NM_000638.3 NP_000629.3 P04004 VTNC_HUMAN vitronectin 128 cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion alphav-beta3 integrin-vitronectin complex|extracellular space heparin binding|integrin binding|scavenger receptor activity kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 13 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Urokinase(DB00013) CTTAGAGGCGCCCACCTCAGG 0.627000 21 34 0 0 0.001882 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 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 33 68 0 0 0.003755 0 0 KRTAP9-3 83900 broad.mit.edu 37 17 39388991 39388991 + Missense_Mutation SNP T T G TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr17:39388991T>G ENST00000411528.2 + 1 277 c.238T>G c.(238-240)Tgc>Ggc p.C80G NM_031962.2 NP_114168.1 Q9BYQ3 KRA93_HUMAN keratin associated protein 9-3 80 16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI]. keratin filament protein binding breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1) 8 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) TAGCACACCCTGCTGCCAGCC 0.587000 46 61 0 0 0.003610 0 0 CENPF 1063 broad.mit.edu 37 1 214794133 214794133 + Missense_Mutation SNP A A G TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr1:214794133A>G ENST00000366955.3 + 6 877 c.709A>G c.(709-711)Att>Gtt p.I237V NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 237 Interaction with SNAP25 and required for localization to the cytoplasm (By similarity). cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AAGAACTCCAATTAGGAGAGA 0.438000 4 169 0 0 0.000602 0 0 DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs2622736 byFrequency TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr3:137880741_137880743delTCG ENST00000260803.4 - 8 1776_1778 c.1623_1625delCGA c.(1621-1626)gat>ga p.DD541del DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 541 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 TTAAGCTGCATCGTCATCATCAT 0.394 10 117 --- --- --- --- ZNRD1-AS1 0 broad.mit.edu 37 6 29977389 29977393 + RNA DEL CTTCT CTTCT - TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr6:29977389_29977393delCTTCT ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA AGAACCCTGACTTCTCTTTCTGCAA 0.488 10 48 --- --- --- ---