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 GOLGA1 2800 broad.mit.edu 37 9 127651460 127651460 + Missense_Mutation SNP G G A TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr9:127651460G>A ENST00000373555.4 - 18 2056 c.1723C>T c.(1723-1725)Cca>Tca p.P575S NM_002077.3 NP_002068.1 Q92805 GOGA1_HUMAN golgin A1 575 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 GCCTGCAATGGGCCCCGCAGC 0.647000 5 87 0 0 1 0 0 RANGAP1 5905 broad.mit.edu 37 22 41650402 41650402 + Silent SNP C C T TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr22:41650402C>T ENST00000455915.2 - 10 2639 c.1170G>A c.(1168-1170)gaG>gaA p.E390E RANGAP1_ENST00000405486.1_Silent_p.E390E|RANGAP1_ENST00000356244.3_Silent_p.E390E|RANGAP1_ENST00000407260.4_Silent_p.E335E P46060 RAGP1_HUMAN Ran GTPase activating protein 1 390 Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity p.E390E(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 cctcctcctcctcttcttcct 0.562000 3 47 0 0 1 0 0 MT-ND4 4538 broad.mit.edu 37 MT 11711 11711 + Missense_Mutation SNP G G A TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chrM:11711G>A ENST00000361381.2 + 1 952 c.952G>A c.(952-954)Gcc>Acc p.318_318insT mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 TTCTCATAATCGCCCACGGAC 0.483000 10 37 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) 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) AGGAGAAGTTACGGGAAGGGA 0.527000 4 82 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78400935 78400935 + Missense_Mutation SNP A A C TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr12:78400935A>C ENST00000397909.2 + 8 1790 c.1617A>C c.(1615-1617)caA>caC p.Q539H NAV3_ENST00000228327.6_Missense_Mutation_p.Q539H|NAV3_ENST00000266692.7_Missense_Mutation_p.Q539H|NAV3_ENST00000536525.2_Missense_Mutation_p.Q539H Q8IVL0 NAV3_HUMAN neuron navigator 3 539 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CAGTAAAGCAAACCATTTCAC 0.468000 HNSCC(70;0.22) 6 48 0 0 1 0 0 CCDC66 285331 broad.mit.edu 37 3 56597934 56597934 + Missense_Mutation SNP A A G TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr3:56597934A>G ENST00000394672.3 + 4 395 c.325A>G c.(325-327)Aaa>Gaa p.K109E CCDC66_ENST00000442522.2_3'UTR|CCDC66_ENST00000436465.2_Missense_Mutation_p.K109E|CCDC66_ENST00000538560.1_Missense_Mutation_p.K109E|CCDC66_ENST00000326595.7_Missense_Mutation_p.K75E NM_001012506.4|NM_001141947.1 NP_001012524.4|NP_001135419.1 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 109 breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) TCATATCCAGAAAGAGATTTC 0.358000 4 22 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106108793 106108793 + Missense_Mutation SNP G G A TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chrX:106108793G>A ENST00000357242.5 + 15 2531 c.2357G>A c.(2356-2358)cGt>cAt p.R786H TBC1D8B_ENST00000276175.3_Missense_Mutation_p.R780H NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 786 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TTAAAGTTGCGTGTTGTATCA 0.303000 6 65 0 0 1 0 0 DUSP7 1849 broad.mit.edu 37 3 52084880 52084880 + Missense_Mutation SNP G G A TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr3:52084880G>A ENST00000495880.1 - 3 1394 c.1211C>T c.(1210-1212)aCg>aTg p.T404M DUSP7_ENST00000296483.6_Missense_Mutation_p.T353M Q16829 DUS7_HUMAN dual specificity phosphatase 7 404 inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity p.T353M(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GTTGGTGGGCGTGGAAAAGTA 0.622000 3 53 0 0 1 0 0 MT-ND1 4535 broad.mit.edu 37 MT 3659 3659 + Nonsense_Mutation SNP G G A TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chrM:3659G>A ENST00000361390.2 + 1 353 c.353G>A c.(352-354)tGa>tAa p.118_118ins* mitochondrially encoded NADH dehydrogenase 1 breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1) 34 CTCAATCCTCTGATCAGGGTG 0.512000 27 18 0 0 1 0 0 ATPAF1 64756 broad.mit.edu 37 1 47110844 47110844 + Missense_Mutation SNP T T C TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr1:47110844T>C ENST00000576409.1 - 7 804 c.742A>G c.(742-744)Ata>Gta p.I248V ATPAF1_ENST00000574428.1_Intron|ATPAF1_ENST00000532925.1_Missense_Mutation_p.I137V|ATPAF1_ENST00000371937.4_Missense_Mutation_p.I225V|ATPAF1_ENST00000329231.4_Intron|ATPAF1_ENST00000542495.1_Missense_Mutation_p.I74V Q5TC12 ATPF1_HUMAN ATP synthase mitochondrial F1 complex assembly factor 1 225 protein complex assembly mitochondrion protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(4) 8 Acute lymphoblastic leukemia(166;0.155) TGAATATTTATAAGTGCAGTG 0.443000 48 117 0 0 1 0 0 NAP1L3 4675 broad.mit.edu 37 X 92928233 92928233 + Missense_Mutation SNP C C T TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chrX:92928233C>T ENST00000373079.3 - 1 334 c.71G>A c.(70-72)aGc>aAc p.S24N NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 24 Ser-rich. nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 ACTAGTCGAGCTAGCCATCTC 0.542000 23 67 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179598614 179598614 + Missense_Mutation SNP G G T TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr2:179598614G>T ENST00000589042.1 - 53 15726 c.15502C>A c.(15502-15504)Cca>Aca p.P5168T TTN_ENST00000591111.1_Missense_Mutation_p.P4851T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P3924T|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4851 Ig-like 32. 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) ACAAAGGTTGGAGGTTCTAGT 0.368000 6 34 8.12818e-05 8.29407e-05 1 1 0 STT3A 3703 broad.mit.edu 37 11 125476246 125476246 + Silent SNP C C T TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr11:125476246C>T ENST00000392708.4 + 8 825 c.666C>T c.(664-666)caC>caT p.H222H STT3A_ENST00000531491.1_Silent_p.H130H|STT3A_ENST00000529196.1_Silent_p.H222H NM_001278503.1|NM_001278504.1|NM_152713.3 NP_001265432.1|NP_001265433.1|NP_689926.1 P46977 STT3A_HUMAN STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 222 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 33 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) TTCCTCTCCACGTCCTCGTGC 0.478000 4 170 0 0 1 0 0 ARRB2 409 broad.mit.edu 37 17 4619841 4619841 + Missense_Mutation SNP A A C TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr17:4619841A>C ENST00000269260.2 + 5 528 c.295A>C c.(295-297)Acc>Ccc p.T99P ARRB2_ENST00000381488.6_Missense_Mutation_p.T84P|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000346341.2_Missense_Mutation_p.T84P|ARRB2_ENST00000575877.1_Missense_Mutation_p.T99P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.T99P NM_001257328.1|NM_001257330.1|NM_004313.3 NP_001244257.1|NP_001244259.1|NP_004304.1 P32121 ARRB2_HUMAN arrestin, beta 2 99 cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 CCGGCCCCCCACCCGCCTGCA 0.682000 7 31 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61835974 61835974 + Silent SNP C C T TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr10:61835974C>T ENST00000280772.1 - 37 4856 c.4665G>A c.(4663-4665)gcG>gcA p.A1555A ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1555 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ATGTAGTTGACGCGCCTAATG 0.418000 6 212 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113377559 113377559 + Silent SNP T T C TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr3:113377559T>C ENST00000316407.4 - 7 3380 c.2970A>G c.(2968-2970)tcA>tcG p.S990S KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.S990S NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 990 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 GCATTGTATCTGATGAATCTT 0.393000 3 105 0 0 1 0 0 CAB39L 81617 broad.mit.edu 37 13 49925022 49925022 + Missense_Mutation SNP C C T rs149022536 TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr13:49925022C>T ENST00000355854.4 - 5 919 c.422G>A c.(421-423)cGt>cAt p.R141H CAB39L_ENST00000409308.1_Missense_Mutation_p.R141H|CAB39L_ENST00000409130.1_5'UTR|CAB39L_ENST00000347776.5_Missense_Mutation_p.R141H|CAB39L_ENST00000410043.1_Missense_Mutation_p.R141H NM_030925.2 NP_112187.2 Q9H9S4 CB39L_HUMAN calcium binding protein 39-like 141 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol protein binding p.R141H(1) breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1) 12 Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226) AATCCCACAACGTAAGGCAAT 0.358000 9 78 0 0 1 0 0 AC093642.5 0 broad.mit.edu 37 2 243061143 243061143 + RNA SNP A A G rs117509304 by1000genomes TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr2:243061143A>G ENST00000456398.1 + 0 491 CTTGGGAGAAACCTTTAATCG 0.358000 4 61 0 0 1 0 0 AC093642.5 0 broad.mit.edu 37 2 243061183 243061183 + RNA SNP C C T TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr2:243061183C>T ENST00000456398.1 + 0 531 ATTCAAGATACCCGAAGGTTC 0.358000 3 58 0 0 1 0 0 CHRND 1144 broad.mit.edu 37 2 233398945 233398945 + Missense_Mutation SNP G G A TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr2:233398945G>A ENST00000258385.3 + 11 1296 c.1264G>A c.(1264-1266)Gca>Aca p.A422T CHRND_ENST00000543200.1_Missense_Mutation_p.A407T|CHRND_ENST00000457943.2_Missense_Mutation_p.A228T NM_000751.2 NP_000742.1 Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 422 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) CCGGCCCCCAGCAAGCTCTGA 0.592000 3 59 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16952952 16952952 + RNA SNP G G A rs1762946 by1000genomes TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr1:16952952G>A ENST00000412962.1 - 0 664 TCTGCCCTCAGCTTGGTCACG 0.622000 5 56 0 0 1 0 0 HK2 3099 broad.mit.edu 37 2 75113626 75113626 + Missense_Mutation SNP G G A TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr2:75113626G>A ENST00000290573.2 + 15 2645 c.2045G>A c.(2044-2046)aGc>aAc p.S682N HK2_ENST00000409174.1_Missense_Mutation_p.S654N NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 682 Catalytic.|Substrate 2 binding. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 GGCACGGGCAGCAATGCCTGC 0.592000 3 92 0 0 1 0 0 DZIP3 9666 broad.mit.edu 37 3 108405390 108405390 + Silent SNP A A G TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr3:108405390A>G ENST00000361582.3 + 28 3338 c.3108A>G c.(3106-3108)agA>agG p.R1036R DZIP3_ENST00000463306.1_Silent_p.R1036R NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 1036 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 ATTGGGAGAGAATTACAGACA 0.498000 20 129 0 0 1 0 0 ABCD1 215 broad.mit.edu 37 X 152991293 152991293 + Missense_Mutation SNP G G A TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chrX:152991293G>A ENST00000218104.3 + 1 971 c.572G>A c.(571-573)cGc>cAc p.R191H ABCD1_ENST00000370129.4_Missense_Mutation_p.R6H NM_000033.3 NP_000024.2 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 1 191 ABC transmembrane type-1. fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2) 18 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGCGGCTTCGCAACCCTGAC 0.647000 15 103 0 0 1 0 0 HIPK1 204851 broad.mit.edu 37 1 114499825 114499825 + Missense_Mutation SNP C C T TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr1:114499825C>T ENST00000369558.1 + 7 1904 c.1672C>T c.(1672-1674)Ccc>Tcc p.P558S HIPK1_ENST00000369561.4_Intron|HIPK1_ENST00000369559.4_Missense_Mutation_p.P558S|HIPK1_ENST00000426820.2_Missense_Mutation_p.P558S|HIPK1_ENST00000406344.1_Missense_Mutation_p.P164S|HIPK1_ENST00000369553.1_Missense_Mutation_p.P164S|HIPK1_ENST00000369555.2_Missense_Mutation_p.P558S|HIPK1_ENST00000369554.2_Missense_Mutation_p.P558S|HIPK1_ENST00000340480.4_Missense_Mutation_p.P184S Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 558 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GATCAAGAGTCCCTTCACTAC 0.388000 6 122 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12387912 12387912 + Splice_Site SNP G G A TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr1:12387912G>A ENST00000358136.3 + 36 8327 c.e36+1 VPS13D_ENST00000356315.4_Splice_Site NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ACCTTTTCCCGTGAGTGTTGT 0.403000 3 38 0 0 1 0 0 GOLPH3 64083 broad.mit.edu 37 5 32126343 32126343 + Missense_Mutation SNP G G A TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr5:32126343G>A ENST00000265070.6 - 4 1187 c.872C>T c.(871-873)gCg>gTg p.A291V NM_022130.3 NP_071413.1 Q9H4A6 GOLP3_HUMAN golgi phosphoprotein 3 (coat-protein) 291 cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network protein binding kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 CGCCACCACCGCCCACAGAAC 0.498000 10 179 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 62 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47611096 47611096 + Missense_Mutation SNP C C T TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr20:47611096C>T ENST00000371917.4 + 22 3082 c.3082C>T c.(3082-3084)Cac>Tac p.H1028Y NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1028 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) CCTGAAGGGCCACACATTGGC 0.572000 5 37 0 0 1 0 0 RENBP 5973 broad.mit.edu 37 X 153207421 153207421 + Missense_Mutation SNP C C G TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chrX:153207421C>G ENST00000393700.3 - 7 831 c.751G>C c.(751-753)Ggg>Cgg p.G251R RENBP_ENST00000369997.3_Missense_Mutation_p.G237R|RENBP_ENST00000412763.1_Intron NM_002910.5 NP_002901.2 P51606 RENBP_HUMAN renin binding protein 251 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) TGCTGTCTCCCCAGGCAGCCA 0.627000 56 195 0 0 1 0 0 FAM161A 84140 broad.mit.edu 37 2 62081111 62081111 + Missense_Mutation SNP G G C TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr2:62081111G>C ENST00000404929.1 - 1 77 c.66C>G c.(64-66)atC>atG p.I22M FAM161A_ENST00000405894.3_Missense_Mutation_p.I22M NM_001201543.1 NP_001188472.1 Q3B820 F161A_HUMAN family with sequence similarity 161, member A 22 response to stimulus|visual perception centrosome breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GCGCTCCAGTGATGGGATTTA 0.672000 15 20 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 57 0 0 1 0 0 SLC41A3 54946 broad.mit.edu 37 3 125786908 125786908 + Missense_Mutation SNP G G A TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr3:125786908G>A ENST00000360370.4 - 2 198 c.155C>T c.(154-156)cCa>cTa p.P52L SLC41A3_ENST00000514023.1_5'UTR|SLC41A3_ENST00000508835.1_Intron|SLC41A3_ENST00000346785.5_Missense_Mutation_p.P52L|SLC41A3_ENST00000315891.6_Missense_Mutation_p.P52L Q96GZ6 S41A3_HUMAN solute carrier family 41, member 3 52 integral to membrane|plasma membrane cation transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GBM - Glioblastoma multiforme(114;0.167) AGTCTCCAGTGGCTTGGGGGT 0.632000 13 126 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105464772 105464772 + Silent SNP G G T TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr3:105464772G>T ENST00000264122.4 - 6 1155 c.834C>A c.(832-834)acC>acA p.T278T CBLB_ENST00000394027.3_Silent_p.T300T|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Silent_p.T278T|CBLB_ENST00000405772.1_Silent_p.T278T NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 278 Cbl-PTB.|SH2-like. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 TTCCGGGTTTGGTGCTATATT 0.373000 Mis S AML 10 169 4.3838e-07 4.56646e-07 1 1 0 CD74 972 broad.mit.edu 37 5 149782174 149782174 + Nonsense_Mutation SNP C C T rs139226964 TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr5:149782174C>T ENST00000377795.3 - 5 475 c.456G>A c.(454-456)tgG>tgA p.W152* CD74_ENST00000524315.1_Intron|CD74_ENST00000353334.6_Missense_Mutation_p.E214K|CD74_ENST00000009530.7_Missense_Mutation_p.E278K NM_001025158.2 NP_001020329.1 P04233 HG2A_HUMAN CD74 molecule, major histocompatibility complex, class II invariant chain 0 antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1) 5 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GACGGGTCCTCCAGTTCCAGT 0.602000 T ROS1 NSCLC 4 183 0 0 1 0 0 TMEM71 137835 broad.mit.edu 37 8 133740227 133740227 + Missense_Mutation SNP C C T TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr8:133740227C>T ENST00000356838.3 - 6 578 c.436G>A c.(436-438)Gat>Aat p.D146N TMEM71_ENST00000377901.4_Intron|TMEM71_ENST00000523829.1_Missense_Mutation_p.D165N NM_144649.2 NP_653250.2 Q6P5X7 TMM71_HUMAN transmembrane protein 71 165 integral to membrane endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) CAGTCTAAATCATCTGCTGAA 0.478000 9 60 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f 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 37 56 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31911265 31911265 + Missense_Mutation SNP C C T TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr6:31911265C>T ENST00000456570.1 + 9 1124 c.1069C>T c.(1069-1071)Cgc>Tgc p.R357C CFB_ENST00000477310.1_Missense_Mutation_p.R281C|C2_ENST00000469372.1_Missense_Mutation_p.R264C|C2_ENST00000442278.2_Missense_Mutation_p.R378C|C2_ENST00000452323.2_Missense_Mutation_p.R296C|C2_ENST00000299367.5_Missense_Mutation_p.R510C|CFB_ENST00000556679.1_Missense_Mutation_p.R357C P00751 CFAB_HUMAN complement factor B 529 VWFA. KK -> EE (in Ref. 10; AAA36225). complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 TCATTGCTTCCGCGATGGCAA 0.597000 21 174 0 0 1 0 0 RBM10 8241 broad.mit.edu 37 X 47030582 47030582 + Missense_Mutation SNP G G T TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chrX:47030582G>T ENST00000377604.3 + 4 1099 c.357G>T c.(355-357)gaG>gaT p.E119D RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 119 Poly-Glu. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 aggaggaggaggatgaggagg 0.662000 3 37 1 1 1 1 0 GTF2IRD1 9569 broad.mit.edu 37 7 73927266 73927266 + Missense_Mutation SNP G G A TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr7:73927266G>A ENST00000476977.1 + 3 1921 c.230G>A c.(229-231)cGg>cAg p.R77Q GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R77Q|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.R77Q|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R77Q Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 77 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CTGAATGCCCGGAAGGAGCTA 0.637000 3 98 0 0 1 0 0 PCDHA11 0 broad.mit.edu 37 5 140249717 140249717 + Silent SNP C C T TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr5:140249717C>T ENST00000398640.2 + 1 1029 c.1029C>T c.(1027-1029)aaC>aaT p.N343N PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGACACCAACGATAACTCTC 0.512000 3 97 0 0 1 0 0 ABCB11 8647 broad.mit.edu 37 2 169781177 169781177 + Missense_Mutation SNP T T C TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr2:169781177T>C ENST00000263817.6 - 27 3879 c.3755A>G c.(3754-3756)gAa>gGa p.E1252G NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 1252 ABC transporter 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) CTTTTCACTTTCTGTGTCTAA 0.363000 6 72 0 0 1 0 0 ADC 113451 broad.mit.edu 37 1 33583639 33583639 + Missense_Mutation SNP C C T TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr1:33583639C>T ENST00000294517.6 + 11 1753 c.1166C>T c.(1165-1167)gCc>gTc p.A389V ADC_ENST00000373443.3_Missense_Mutation_p.A389V|ADC_ENST00000398167.1_Missense_Mutation_p.A409V|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Missense_Mutation_p.A409V NM_052998.2 NP_443724.1 Q96A70 ADC_HUMAN arginine decarboxylase 389 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) AACATGGGCGCCTACACTGTG 0.632000 13 56 0 0 1 0 0 DMAP1 55929 broad.mit.edu 37 1 44684778 44684780 + In_Frame_Del DEL GAA GAA - TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr1:44684778_44684780delGAA ENST00000372289.2 + 6 1034_1036 c.771_773delGAA c.(769-774)cgg>cg p.RK257del DMAP1_ENST00000361745.6_In_Frame_Del_p.RK257del|DMAP1_ENST00000315913.5_In_Frame_Del_p.RK257del|DMAP1_ENST00000488433.1_3'UTR NM_019100.4 NP_061973.1 Q9NPF5 DMAP1_HUMAN DNA methyltransferase 1 associated protein 1 257 DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex DNA binding|protein binding breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(166;0.155) TTGAGGCCCGGAAGAAGGAGCGG 0.606 8 81 --- --- --- --- ZNRD1-AS1 0 broad.mit.edu 37 6 29977389 29977393 + RNA DEL CTTCT CTTCT - TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr6:29977389_29977393delCTTCT ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA AGAACCCTGACTTCTCTTTCTGCAA 0.488 10 31 --- --- --- --- TG 7038 broad.mit.edu 37 8 133935742 133935743 + Frame_Shift_Del DEL CA CA - TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr8:133935742_133935743delCA ENST00000220616.4 + 22 4728_4729 c.4688_4689delCA c.(4687-4689)tfs p.S1563fs TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1563 Thyroglobulin type-1 11. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CTTGAGGACTCACAGTGTTTGA 0.594 10 34 --- --- --- --- CEP290 80184 broad.mit.edu 37 12 88512305 88512305 + Frame_Shift_Del DEL T T - rs77980773 TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr12:88512305delT ENST00000552810.1 - 17 2009 c.1666delA c.(1666-1668)ttfs p.I556fs CEP290_ENST00000309041.7_Frame_Shift_Del_p.I558fs|CEP290_ENST00000397838.3_5'UTR NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 556 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding p.I558fs*20(1) breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 ATTTGACGAATTTTTTTTTTC 0.308 4 6 --- --- --- --- ULK4P3 0 broad.mit.edu 37 15 30406088 30406089 + RNA INS - - T TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr15:30406088_30406089insT ENST00000568486.1 + 0 402 NR_026859.1 TGCCTCAAAAGTTTTTTTTTTT 0.297 4 7 --- --- --- --- DNM1P46 0 broad.mit.edu 37 15 100340240 100340240 + RNA DEL A A - TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr15:100340240delA ENST00000341853.1 - 0 686 NR_003260.1 AGGAGTGTCTATTTCTTCCCA 0.632 2 4 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr19:43969653_43969655delAGC ENST00000244333.3 - 1 157_159 c.69_71delGCT c.(67-72)ctt>ct p.LL23del NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 7 276 --- --- --- --- NKPD1 284353 broad.mit.edu 37 19 45655769 45655771 + In_Frame_Del DEL CTG CTG - TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chr19:45655769_45655771delCTG ENST00000317951.4 - 4 1923_1925 c.1924_1926delCAG c.(1924-1926)del p.Q642del NKPD1_ENST00000438936.2_In_Frame_Del_p.Q420del|NKPD1_ENST00000429338.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000589776.1_In_Frame_Del_p.Q420del NM_198478.3 NP_940880.3 NTPase, KAP family P-loop domain containing 1 endometrium(1)|lung(4)|prostate(2)|urinary_tract(1) 8 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) CAAAGTCCCCCTGCTGCTGCTGC 0.704 4 7 --- --- --- --- CUL4B 8450 broad.mit.edu 37 X 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-IM-A3U3-01A-11D-A22D-08 TCGA-IM-A3U3-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d433dcf-1aa3-462a-8ab3-6de005ad8f69 cf90d01b-1750-4167-9b0a-ca680081e70f g.chrX:119694117_119694119delGAG ENST00000371322.5 - 1 436_438 c.375_377delCTC c.(373-378)tca>tc p.SS127del CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del|CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 145 Ser-rich. cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TGGTGAAGATgaggaggaggagg 0.488 7 84 --- --- --- ---