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 GNAL 2774 broad.mit.edu 37 18 11753670 11753670 + Missense_Mutation SNP G G A TCGA-DJ-A2Q3-01A-11D-A18F-08 TCGA-DJ-A2Q3-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddec4477-986f-45fd-9d67-3c0b60db69ce 75811819-5756-4255-9e6c-397b11987a25 g.chr18:11753670G>A uc002kqc.2 + 2 920 c.493G>A c.(493-495)Gat>Aat p.D165N GNAL_uc002kqd.2_Missense_Mutation_p.D88N|GNAL_uc010dkz.2_Missense_Mutation_p.D88N NM_182978 NP_892023 P38405 GNAL_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type (GNAL), transcript variant 1, mRNA. 88 activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|adenylate cyclase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1) 12 AAATGTTAAAGATGCTATCGT 0.318000 11 16 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179419249 179419249 + Nonsense_Mutation SNP G G A TCGA-DJ-A2Q3-01A-11D-A18F-08 TCGA-DJ-A2Q3-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddec4477-986f-45fd-9d67-3c0b60db69ce 75811819-5756-4255-9e6c-397b11987a25 g.chr2:179419249G>A uc021vsy.1 - 280 81346 c.81121C>T c.(81121-81123)Cga>Tga p.R27041* MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.R20736*|TTN_uc021vta.1_Nonsense_Mutation_p.R20669*|TTN_uc021vtb.1_Nonsense_Mutation_p.R20544* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 27968 Fibronectin type-III 97. 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) TTCACGGCTCGGACCCGGAAG 0.433000 9 21 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63720697 63720697 + Silent SNP A A G TCGA-DJ-A2Q3-01A-11D-A18F-08 TCGA-DJ-A2Q3-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddec4477-986f-45fd-9d67-3c0b60db69ce 75811819-5756-4255-9e6c-397b11987a25 g.chr7:63720697A>G uc003tsx.3 + 2 407 c.138A>G c.(136-138)ttA>ttG p.L46L NM_153363 NP_699194 Q8IYX0 ZN679_HUMAN Homo sapiens zinc finger protein 679 (ZNF679), mRNA. 46 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 ATGTGATGTTAGAGAACTACA 0.378000 3 124 0 0 1 0 0 C19orf60 55049 broad.mit.edu 37 19 18701721 18701721 + Missense_Mutation SNP C C T TCGA-DJ-A2Q3-01A-11D-A18F-08 TCGA-DJ-A2Q3-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddec4477-986f-45fd-9d67-3c0b60db69ce 75811819-5756-4255-9e6c-397b11987a25 g.chr19:18701721C>T uc002njv.4 + 3 628 c.511C>T c.(511-513)Cgg>Tgg p.R171W C19orf60_uc002nju.2_Missense_Mutation_p.R183W|C19orf60_uc010ebs.3_Missense_Mutation_p.R149W NM_001100418 NP_001093888 Q96EN9 CS060_HUMAN Homo sapiens chromosome 19 open reading frame 60 (C19orf60), transcript variant 1, mRNA. 171 protein binding GGACGCTGTACGGATGCAGCA 0.622000 3 11 0 0 1 0 0 D2HGDH 728294 broad.mit.edu 37 2 242680473 242680473 + Silent SNP A A G TCGA-DJ-A2Q3-01A-11D-A18F-08 TCGA-DJ-A2Q3-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddec4477-986f-45fd-9d67-3c0b60db69ce 75811819-5756-4255-9e6c-397b11987a25 g.chr2:242680473A>G uc002wce.1 + 2 491 c.318A>G c.(316-318)ccA>ccG p.P106P D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_5'UTR|D2HGDH_uc002wcg.1_Non-coding_Transcript NM_152783 NP_689996 Q8N465 D2HDH_HUMAN Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA. 106 FAD-binding PCMH-type. 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TGCTGAGGCCACGGACGTCGG 0.622000 4 26 0 0 1 0 0 FGD4 121512 broad.mit.edu 37 12 32778653 32778653 + Missense_Mutation SNP A A T TCGA-DJ-A2Q3-01A-11D-A18F-08 TCGA-DJ-A2Q3-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddec4477-986f-45fd-9d67-3c0b60db69ce 75811819-5756-4255-9e6c-397b11987a25 g.chr12:32778653A>T uc010ske.2 + 13 2121 c.2037A>T c.(2035-2037)aaA>aaT p.K679N FGD4_uc001rlc.3_Missense_Mutation_p.K652N|FGD4_uc001rky.3_Missense_Mutation_p.K319N|FGD4_uc001rkz.3_Missense_Mutation_p.K567N|FGD4_uc001rla.3_Missense_Mutation_p.K223N|FGD4_uc001rlb.1_Non-coding_Transcript NM_139241 NP_640334 Q96M96 FGD4_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA. 567 PH 2. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|filopodium|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding p.A679V(1) breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) TGTGTATGAAATGTAAAGAAC 0.378000 8 49 0 0 1 0 0 UBXN6 80700 broad.mit.edu 37 19 4446104 4446104 + Missense_Mutation SNP G G A TCGA-DJ-A2Q3-01A-11D-A18F-08 TCGA-DJ-A2Q3-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddec4477-986f-45fd-9d67-3c0b60db69ce 75811819-5756-4255-9e6c-397b11987a25 g.chr19:4446104G>A uc002man.2 - 9 1239 c.1142C>T c.(1141-1143)gCc>gTc p.A381V UBXN6_uc002mam.2_Missense_Mutation_p.A328V NM_025241 NP_079517 Q9BZV1 UBXN6_HUMAN Homo sapiens UBX domain protein 6 (UBXN6), transcript variant 1, mRNA. 381 UBX. microtubule organizing center|nucleus protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 12 CCCTCCCGAGGCCAGCAGCTC 0.677000 8 36 0 0 1 0 0 MARCH10 162333 broad.mit.edu 37 17 60837359 60837359 + Missense_Mutation SNP A A C TCGA-DJ-A2Q3-01A-11D-A18F-08 TCGA-DJ-A2Q3-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddec4477-986f-45fd-9d67-3c0b60db69ce 75811819-5756-4255-9e6c-397b11987a25 g.chr17:60837359A>C uc010dds.3 - 3 504 c.219T>G c.(217-219)agT>agG p.S73R MARCH10_uc010ddr.3_Missense_Mutation_p.S73R|MARCH10_uc002jag.4_Missense_Mutation_p.S73R|MARCH10_uc002jah.2_Missense_Mutation_p.S73R NM_152598 NP_689811 Q8NA82 MARHA_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA. 73 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 CATCCTCCTCACTAGAACTCT 0.423000 13 52 0 0 1 0 0 KDM4B 23030 broad.mit.edu 37 19 5111518 5111518 + Silent SNP C C G TCGA-DJ-A2Q3-01A-11D-A18F-08 TCGA-DJ-A2Q3-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddec4477-986f-45fd-9d67-3c0b60db69ce 75811819-5756-4255-9e6c-397b11987a25 g.chr19:5111518C>G uc010xil.1 + 10 1474 c.1248C>G c.(1246-1248)ccC>ccG p.P416P KDM4B_uc002mbq.4_Intron|KDM4B_uc010xim.2_Intron|KDM4B_uc002mbr.4_Intron NM_015015 NP_055830 O94953 KDM4B_HUMAN Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA. 414 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 AGGCAGGTCCCGGCCTAGGAG 0.642000 3 34 0 0 1 0 0 UNC13B 10497 broad.mit.edu 37 9 35399705 35399705 + Missense_Mutation SNP C C G TCGA-DJ-A2Q3-01A-11D-A18F-08 TCGA-DJ-A2Q3-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddec4477-986f-45fd-9d67-3c0b60db69ce 75811819-5756-4255-9e6c-397b11987a25 g.chr9:35399705C>G uc003zwr.3 + 34 4360 c.4068C>G c.(4066-4068)gaC>gaG p.D1356E UNC13B_uc003zwq.3_Missense_Mutation_p.D1356E NM_006377 NP_006368 O14795 UN13B_HUMAN Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA. 1356 MHD2. excretion|induction of apoptosis|intracellular signal transduction Golgi apparatus|cell junction|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) CAGTCCTTGACCTCGCCCTGG 0.547000 11 159 0 0 1 0 0 TRPM4 54795 broad.mit.edu 37 19 49671841 49671841 + Missense_Mutation SNP G G A TCGA-DJ-A2Q3-01A-11D-A18F-08 TCGA-DJ-A2Q3-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddec4477-986f-45fd-9d67-3c0b60db69ce 75811819-5756-4255-9e6c-397b11987a25 g.chr19:49671841G>A uc002pmw.3 + 5 752 c.644G>A c.(643-645)gGt>gAt p.G215D TRPM4_uc010emu.3_Missense_Mutation_p.G215D|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Missense_Mutation_p.G41D|TRPM4_uc010emv.3_Missense_Mutation_p.G100D|TRPM4_uc010yal.2_5'UTR NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA. 215 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding p.R214R(1) breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CGGTGGCGCGGTGACCCGGAG 0.657000 12 37 0 0 1 0 0 IFFO1 25900 broad.mit.edu 37 12 6659951 6659951 + Silent SNP G G A TCGA-DJ-A2Q3-01A-11D-A18F-08 TCGA-DJ-A2Q3-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddec4477-986f-45fd-9d67-3c0b60db69ce 75811819-5756-4255-9e6c-397b11987a25 g.chr12:6659951G>A uc010sfe.2 - 2 894 c.840C>T c.(838-840)gcC>gcT p.A280A IFFO1_uc001qoy.3_Non-coding_Transcript|IFFO1_uc001qoz.2_5'Flank|IFFO1_uc001qpa.2_5'Flank|IFFO1_uc001qpb.1_5'Flank|IFFO1_uc001qpc.2_Silent_p.A280A|IFFO1_uc001qpf.2_Silent_p.A280A|IFFO1_uc001qpe.2_Non-coding_Transcript|IFFO1_uc001qpg.3_5'Flank NM_001193457 NP_001180386 Q0D2I5 IFFO1_HUMAN Homo sapiens intermediate filament family orphan 1 (IFFO1), transcript variant 5, mRNA. 280 intermediate filament central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 20 CAGCCTCCTGGGCTTCCTGCA 0.582000 11 43 0 0 1 0 0 SH2D4A 63898 broad.mit.edu 37 8 19231046 19231046 + Missense_Mutation SNP A A G TCGA-DJ-A2Q3-01A-11D-A18F-08 TCGA-DJ-A2Q3-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddec4477-986f-45fd-9d67-3c0b60db69ce 75811819-5756-4255-9e6c-397b11987a25 g.chr8:19231046A>G uc003wzb.3 + 7 1381 c.923A>G c.(922-924)cAg>cGg p.Q308R SH2D4A_uc011kym.2_Missense_Mutation_p.Q263R|SH2D4A_uc003wzc.3_Missense_Mutation_p.Q308R NM_022071 NP_071354 Q9H788 SH24A_HUMAN Homo sapiens SH2 domain containing 4A (SH2D4A), transcript variant 1, mRNA. 308 cytoplasm|nucleus protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1) 16 Colorectal(111;0.0732) AACAGAAATCAGGGAGTGGTG 0.383000 3 30 0 0 1 0 0 CCRL1 51554 broad.mit.edu 37 3 132319255 132319255 + Missense_Mutation SNP A A C TCGA-DJ-A2Q3-01A-11D-A18F-08 TCGA-DJ-A2Q3-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddec4477-986f-45fd-9d67-3c0b60db69ce 75811819-5756-4255-9e6c-397b11987a25 g.chr3:132319255A>C uc003eow.3 + 1 97 c.14A>C c.(13-15)cAg>cCg p.Q5P NPHP3_uc003eov.4_Intron|NPHP3_uc011blr.1_Intron|CCRL1_uc003eox.3_Missense_Mutation_p.Q5P NM_016557 NP_848540 Q9NPB9 CCRL1_HUMAN Homo sapiens chemokine (C-C motif) receptor-like 1 (CCRL1), transcript variant 2, mRNA. 5 chemotaxis|immune response integral to plasma membrane C-C chemokine receptor activity breast(1)|endometrium(4)|large_intestine(6)|lung(6) 17 GCTTTGGAACAGAACCAGTCA 0.338000 5 7 0 0 1 0 0 EBF2 64641 broad.mit.edu 37 8 25890631 25890631 + Missense_Mutation SNP T T C TCGA-DJ-A2Q3-01A-11D-A18F-08 TCGA-DJ-A2Q3-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddec4477-986f-45fd-9d67-3c0b60db69ce 75811819-5756-4255-9e6c-397b11987a25 g.chr8:25890631T>C uc003xes.2 - 5 786 c.521A>G c.(520-522)gAg>gGg p.E174G DOCK5_uc003xek.3_Intron|EBF2_uc003xet.2_Missense_Mutation_p.E174G NM_022659 NP_073150 Q9HAK2 COE2_HUMAN Homo sapiens early B-cell factor 2 (EBF2), mRNA. 174 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) CGATGGAGTCTCATTTCGGTT 0.393000 3 79 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157504590 157504590 + Missense_Mutation SNP C C A TCGA-DJ-A2Q3-01A-11D-A18F-08 TCGA-DJ-A2Q3-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddec4477-986f-45fd-9d67-3c0b60db69ce 75811819-5756-4255-9e6c-397b11987a25 g.chr1:157504590C>A uc009wsm.3 - 7 1653 c.1495G>T c.(1495-1497)Ggt>Tgt p.G499C FCRL5_uc001fqu.3_Missense_Mutation_p.G499C|FCRL5_uc010phv.1_Missense_Mutation_p.G499C|FCRL5_uc010phw.1_Missense_Mutation_p.G414C|FCRL5_uc001fqv.1_Missense_Mutation_p.G499C|FCRL5_uc010phx.2_Missense_Mutation_p.G250C NM_001195388 NP_001182317 Q96RD9 FCRL5_HUMAN Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA. 499 Ig-like C2-type 5. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) TGTGGGGAACCTCTCTGGACT 0.527000 12 42 0 0 1 0 0 GPR151 134391 broad.mit.edu 37 5 145895152 145895152 + Missense_Mutation SNP A A T TCGA-DJ-A2Q3-01A-11D-A18F-08 TCGA-DJ-A2Q3-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddec4477-986f-45fd-9d67-3c0b60db69ce 75811819-5756-4255-9e6c-397b11987a25 g.chr5:145895152A>T uc003lod.1 - 0 525 c.525T>A c.(523-525)ttT>ttA p.F175L NM_194251 NP_919227 Q8TDV0 GP151_HUMAN Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA. 175 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2) 14 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGATGGTGCTAAAGAACCATT 0.522000 12 39 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A2Q3-01A-11D-A18F-08 TCGA-DJ-A2Q3-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddec4477-986f-45fd-9d67-3c0b60db69ce 75811819-5756-4255-9e6c-397b11987a25 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 10 50 0 0 1 0 0 LYPD6B 130576 broad.mit.edu 37 2 150017336 150017336 + Frame_Shift_Del DEL T T - TCGA-DJ-A2Q3-01A-11D-A18F-08 TCGA-DJ-A2Q3-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddec4477-986f-45fd-9d67-3c0b60db69ce 75811819-5756-4255-9e6c-397b11987a25 g.chr2:150017336delT uc002twv.1 + 2 465 c.64delT c.(64-66)ttcfs p.F22fs LYPD6B_uc002tww.1_Intron|LYPD6B_uc002twx.1_Intron NM_177964 NP_808879 Q8NI32 LPD6B_HUMAN Homo sapiens LY6/PLAUR domain containing 6B (LYPD6B), mRNA. 0 anchored to membrane|plasma membrane endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 GACAACCACATTCTCCTTCTC 0.468 2 4 --- --- --- --- NEFM 4741 broad.mit.edu 37 8 24774945 24774945 + Frame_Shift_Del DEL A A - TCGA-DJ-A2Q3-01A-11D-A18F-08 TCGA-DJ-A2Q3-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddec4477-986f-45fd-9d67-3c0b60db69ce 75811819-5756-4255-9e6c-397b11987a25 g.chr8:24774945delA uc003xed.4 + 2 1610 c.1577delA c.(1576-1578)gaafs p.E526fs NEFM_uc011lac.1_Frame_Shift_Del_p.E526fs|NEFM_uc010lue.3_Frame_Shift_Del_p.E150fs NM_005382 NP_005373 P07197 NFM_HUMAN Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA. 526 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) gaggaaggggaaaaggaggaa 0.488 2 4 --- --- --- ---