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 NBPF10 100132406 broad.mit.edu 37 1 145311839 145311839 + Missense_Mutation SNP A A T rs58277049 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.chr1:145311839A>T ENST00000369338.1 + 10 1278 c.1088A>T c.(1087-1089)cAg>cTg p.Q363L RP11-458D21.5_ENST00000468030.1_Intron|NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000342960.5_Intron A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 636 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CAGGACTCACAGGATAGATGT 0.473000 4 65 0 0 0.014758 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 ENST00000589042.1 - 332 89049 c.88825C>T c.(88825-88827)Cga>Tga p.R29609* TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R27041*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R20544*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R27968*|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R20669*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R20736*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27968 Ig-like 135. 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 0.004482 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes 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.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 3 42 0 0 0.014758 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 ENST00000358607.6 + 4 588 c.511C>T c.(511-513)Cgg>Tgg p.R171W CRLF1_ENST00000594325.1_Intron|C19orf60_ENST00000450195.2_Missense_Mutation_p.R149W NM_001100418.1|NM_001100419.1 NP_001093888.1|NP_001093889.1 Q96EN9 CS060_HUMAN chromosome 19 open reading frame 60 171 protein binding GGACGCTGTACGGATGCAGCA 0.622000 3 11 0 0 0.004672 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 ENST00000321264.4 + 3 527 c.318A>G c.(316-318)ccA>ccG p.P106P D2HGDH_ENST00000403782.1_5'UTR|D2HGDH_ENST00000342518.6_Silent_p.P106P|D2HGDH_ENST00000537090.1_Silent_p.P106P NM_152783.3 NP_689996.4 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase 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 0.001168 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 ENST00000427716.2 + 14 2125 c.1701A>T c.(1699-1701)aaA>aaT p.K567N FGD4_ENST00000546442.1_Missense_Mutation_p.K474N|FGD4_ENST00000266482.3_Missense_Mutation_p.K319N|FGD4_ENST00000534526.2_Missense_Mutation_p.K704N|FGD4_ENST00000531134.1_Missense_Mutation_p.K652N|FGD4_ENST00000525053.1_Missense_Mutation_p.K679N NM_139241.2 NP_640334.2 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 567 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 cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding 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 0.004482 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 ENST00000301281.6 - 10 1266 c.1142C>T c.(1141-1143)gCc>gTc p.A381V UBXN6_ENST00000394765.3_Missense_Mutation_p.A328V NM_025241.2 NP_079517.1 Q9BZV1 UBXN6_HUMAN UBX domain protein 6 381 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 0.003080 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 ENST00000252826.5 + 6 770 c.644G>A c.(643-645)gGt>gAt p.G215D TRPM4_ENST00000355712.5_5'UTR|TRPM4_ENST00000427978.2_Missense_Mutation_p.G215D NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 215 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding 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 0.013537 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 ENST00000336604.4 - 3 881 c.840C>T c.(838-840)gcC>gcT p.A280A IFFO1_ENST00000356896.4_Silent_p.A280A|IFFO1_ENST00000396840.2_Silent_p.A280A|IFFO1_ENST00000436152.2_5'UTR|IFFO1_ENST00000465801.1_5'UTR NM_080730.4 NP_542768.2 Q0D2I5 IFFO1_HUMAN intermediate filament family orphan 1 280 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 0.008291 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency 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.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(3)|p.Q2742Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcaacagcagcagc 0.602000 5 47 0 0 0.014758 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes 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.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 3 72 0 0 0.004672 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 ENST00000381759.4 + 11 1455 c.1248C>G c.(1246-1248)ccC>ccG p.P416P KDM4B_ENST00000536461.1_Intron|KDM4B_ENST00000159111.4_Intron O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 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 0.004672 0 0 TBX15 6913 broad.mit.edu 37 1 119474357 119474357 + Missense_Mutation SNP G G 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.chr1:119474357G>C ENST00000369429.3 - 2 313 c.304C>G c.(304-306)Cct>Gct p.P102A TBX15_ENST00000207157.3_5'UTR Q96SF7 TBX15_HUMAN T-box 15 102 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) GCAGGCACAGGGCCTGCAGCA 0.532000 9 33 0 0 0.006214 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 ENST00000378495.3 + 35 4290 c.4068C>G c.(4066-4068)gaC>gaG p.D1356E UNC13B_ENST00000396787.1_Missense_Mutation_p.D1368E|UNC13B_ENST00000378496.4_Missense_Mutation_p.D1356E NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 1356 MHD2. excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|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 0.013537 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 ENST00000544856.2 - 5 597 c.219T>G c.(217-219)agT>agG p.S73R MARCH10_ENST00000311269.5_Missense_Mutation_p.S73R|MARCH10_ENST00000583600.1_Missense_Mutation_p.S73R|MARCH10_ENST00000456609.2_Missense_Mutation_p.S73R Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 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 0.013537 0 0 ACKR4 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 ENST00000249887.2 + 2 110 c.14A>C c.(13-15)cAg>cCg p.Q5P ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000264990.6_Intron NM_016557.2|NM_178445.2 NP_057641.1|NP_848540.1 atypical chemokine receptor 4 GCTTTGGAACAGAACCAGTCA 0.338000 5 7 0 0 0.001168 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 ENST00000520164.1 - 6 1058 c.521A>G c.(520-522)gAg>gGg p.E174G EBF2_ENST00000408929.3_Missense_Mutation_p.E26G NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 174 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 0.004672 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 ENST00000265807.3 + 8 1334 c.923A>G c.(922-924)cAg>cGg p.Q308R SH2D4A_ENST00000519207.1_Missense_Mutation_p.Q308R|SH2D4A_ENST00000518040.1_Missense_Mutation_p.Q263R NM_001174160.1|NM_022071.3 NP_001167631.1|NP_071354.2 Q9H788 SH24A_HUMAN SH2 domain containing 4A 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 0.014758 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA 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.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 3 69 0 0 0.004672 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 ENST00000361835.3 - 8 1652 c.1495G>T c.(1495-1497)Ggt>Tgt p.G499C FCRL5_ENST00000368191.3_Missense_Mutation_p.G414C|FCRL5_ENST00000356953.4_Missense_Mutation_p.G499C|FCRL5_ENST00000368189.3_Missense_Mutation_p.G499C|FCRL5_ENST00000368190.3_Missense_Mutation_p.G499C NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 499 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 5.50884e-06 9.01446e-06 0.013537 1 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 ENST00000311104.2 - 1 601 c.525T>A c.(523-525)ttT>ttA p.F175L NM_194251.2 NP_919227.2 Q8TDV0 GP151_HUMAN G protein-coupled receptor 151 175 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 0.016723 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 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 10 50 0 0 0.016723 0 0 GOLGA8DP 0 broad.mit.edu 37 15 22709637 22709637 + RNA SNP T T G rs140467724 by1000genomes 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.chr15:22709637T>G ENST00000314246.8 - 0 1147 CCCATCTGGTTTTTGAGTTTG 0.547000 4 258 0 0 0.014758 0 0 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 ENST00000334049.6 + 3 1101 c.493G>A c.(493-495)Gat>Aat p.D165N GNAL_ENST00000423027.3_Missense_Mutation_p.D88N|GNAL_ENST00000269162.5_Missense_Mutation_p.D88N|GNAL_ENST00000535121.1_Missense_Mutation_p.D88N NM_182978.3 NP_892023.1 P38405 GNAL_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 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 adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase 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 0.016723 0 0 RP11-206L10.2 0 broad.mit.edu 37 1 700514 700514 + RNA 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.chr1:700514delA ENST00000428504.1 - 0 1039 NR_033908.1 actccatctcaaaaaaaaaaa 0.453 3 5 --- --- --- --- 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 ENST00000409642.3 + 3 465 c.64delT c.(64-66)tcfs p.F22fs LYPD6B_ENST00000409876.1_Intron|LYPD6B_ENST00000409029.1_Intron|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000450639.1_Frame_Shift_Del_p.F22fs|LYPD6B_ENST00000280115.7_Frame_Shift_Del_p.F22fs NM_177964.3 NP_808879.2 Q8NI32 LPD6B_HUMAN LY6/PLAUR domain containing 6B 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 ENST00000221166.5 + 3 2359 c.1577delA c.(1576-1578)gafs p.E526fs NEFM_ENST00000518131.1_Frame_Shift_Del_p.E526fs|NEFM_ENST00000433454.2_Frame_Shift_Del_p.E150fs|NEFM_ENST00000437366.2_Frame_Shift_Del_p.E526fs|NEFM_ENST00000521540.1_Intron P07197 NFM_HUMAN neurofilament, medium polypeptide 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 --- --- --- --- KIAA2026 158358 broad.mit.edu 37 9 5968044 5968044 + 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.chr9:5968044delT ENST00000399933.3 - 3 2186 c.2187delA c.(2185-2187)aafs p.K729fs KIAA2026_ENST00000381461.2_Frame_Shift_Del_p.K729fs NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 729 Lys-rich. p.A730fs*15(1) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TGTGTTTTGCTTTTTTTTTGA 0.323 3 4 --- --- --- --- IFT52 51098 broad.mit.edu 37 20 42271199 42271199 + Frame_Shift_Del DEL C 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.chr20:42271199delC ENST00000373030.3 + 13 1331 c.1201delC c.(1201-1203)agfs p.Q401fs IFT52_ENST00000373039.4_Frame_Shift_Del_p.Q401fs|IFT52_ENST00000471199.1_3'UTR NM_016004.2 NP_057088.2 Q9Y366 IFT52_HUMAN intraflagellar transport 52 homolog (Chlamydomonas) 401 intraflagellar transport particle B|microtubule-based flagellum protein C-terminus binding endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) AAAGGACCAACAGGATGCCAA 0.448 11 34 --- --- --- ---