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 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 6 138 0 0 0.001168 0 0 ARID1B 57492 broad.mit.edu 37 6 157521926 157521926 + Nonsense_Mutation SNP C C T TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr6:157521926C>T ENST00000346085.5 + 18 4199 c.4198C>T c.(4198-4200)Cag>Tag p.Q1400* ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q1440*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q1387*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q1382* NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1387 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CAGCAGCCAGCAGCAGGAGAT 0.592000 26 44 0 0 0.003954 0 0 PRRC2A 7916 broad.mit.edu 37 6 31602045 31602045 + Missense_Mutation SNP C C A rs146122581 byFrequency TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr6:31602045C>A ENST00000376033.2 + 19 4986 c.4752C>A c.(4750-4752)ttC>ttA p.F1584L PRRC2A_ENST00000376007.4_Missense_Mutation_p.F1584L NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1584 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 GCTCTGGATTCTTGGGCTCTA 0.527000 8 489 5.18039e-06 7.67465e-06 0.003080 1 0 TTN 7273 broad.mit.edu 37 2 179580380 179580380 + Missense_Mutation SNP C C G TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr2:179580380C>G ENST00000589042.1 - 89 25985 c.25761G>C c.(25759-25761)gaG>gaC p.E8587D TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E8270D|TTN_ENST00000342992.6_Missense_Mutation_p.E7343D|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8270 Ig-like 68. 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) GAATTTCAGTCTCGTCCTTAT 0.408000 9 18 0 0 0.004482 0 0 ZBTB40 9923 broad.mit.edu 37 1 22816958 22816958 + Missense_Mutation SNP G G T TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr1:22816958G>T ENST00000404138.1 + 3 1028 c.517G>T c.(517-519)Gct>Tct p.A173S ZBTB40_ENST00000375647.4_Missense_Mutation_p.A173S|ZBTB40_ENST00000374651.4_Missense_Mutation_p.A173S NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 173 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CCCTGTGAAAGCTGAGACTGA 0.542000 13 219 6.72482e-11 1.03459e-10 0.003163 1 0 PCDHA8 0 broad.mit.edu 37 5 140222123 140222123 + Missense_Mutation SNP C C T TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr5:140222123C>T ENST00000531613.1 + 1 1217 c.1217C>T c.(1216-1218)tCg>tTg p.S406L PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.S406L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATTACTACTCGTTGGTGCTG 0.632000 71 146 0 0 0.003610 0 0 KCMF1 56888 broad.mit.edu 37 2 85276643 85276643 + Silent SNP C C T TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr2:85276643C>T ENST00000409785.3 + 6 1115 c.756C>T c.(754-756)cgC>cgT p.R252R NM_020122.4 NP_064507.3 Q9P0J7 KCMF1_HUMAN potassium channel modulatory factor 1 252 intracellular ligase activity|zinc ion binding ovary(3) 3 AGACCGCACGCAACGCAACCC 0.537000 8 40 0 0 0.003080 0 0 ZNF141 7700 broad.mit.edu 37 4 366799 366799 + Silent SNP A A G TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr4:366799A>G ENST00000240499.7 + 4 722 c.573A>G c.(571-573)gtA>gtG p.V191V ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron NM_003441.2 NP_003432.1 Q15928 ZN141_HUMAN zinc finger protein 141 191 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 18 AACATAAGGTAATTCATGCTG 0.343000 18 71 0 0 0.008871 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 7 63 0 0 0.003080 0 0 TAAR5 9038 broad.mit.edu 37 6 132910122 132910122 + Missense_Mutation SNP G G A TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr6:132910122G>A ENST00000258034.2 - 1 755 c.704C>T c.(703-705)aCa>aTa p.T235I NM_003967.2 NP_003958.2 O14804 TAAR5_HUMAN trace amine associated receptor 5 235 synaptic transmission integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 32 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) TTTGCTCAATGTGGTAATCTG 0.502000 18 29 0 0 0.007413 0 0 MYOM2 9172 broad.mit.edu 37 8 2027691 2027691 + Missense_Mutation SNP G G C TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr8:2027691G>C ENST00000262113.4 + 13 1654 c.1513G>C c.(1513-1515)Gaa>Caa p.E505Q MYOM2_ENST00000523438.1_Intron NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 505 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) GGATGACCTTGAAGGTAAGTA 0.512000 6 230 0 0 0.001168 0 0 RBM4B 83759 broad.mit.edu 37 11 66436191 66436191 + Missense_Mutation SNP T T A TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr11:66436191T>A ENST00000525754.1 - 2 1652 c.984A>T c.(982-984)ttA>ttT p.L328F RBM4B_ENST00000310046.4_Missense_Mutation_p.L328F|RBM4B_ENST00000529195.2_5'UTR|RBM4B_ENST00000531969.1_Intron Q9BQ04 RBM4B_HUMAN RNA binding motif protein 4B 328 Interaction with TNPO3 (By similarity). circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing nucleolus nucleotide binding|RNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2) 10 AAGCCTGAGATAATTCACTCT 0.552000 19 40 0 0 0.006122 0 0 DNTT 1791 broad.mit.edu 37 10 98087290 98087290 + Silent SNP C C T TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr10:98087290C>T ENST00000419175.1 + 7 1110 c.940C>T c.(940-942)Ctg>Ttg p.L314L DNTT_ENST00000371174.2_Silent_p.L314L NM_001017520.1|NM_004088.3 NP_001017520.1|NP_004079.3 P04053 TDT_HUMAN DNA nucleotidylexotransferase 314 Mediates interaction with DNTTIP2. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) CGTCAGTGTGCTGGTTAAAGA 0.522000 4 209 0 0 0.000248 0 0 DNAI2 64446 broad.mit.edu 37 17 72278108 72278108 + Missense_Mutation SNP T T A TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr17:72278108T>A ENST00000579490.1 + 1 458 c.323T>A c.(322-324)aTc>aAc p.I108N DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000582036.1_Missense_Mutation_p.I51N|DNAI2_ENST00000446837.2_Missense_Mutation_p.I51N|DNAI2_ENST00000311014.6_Missense_Mutation_p.I51N Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 51 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GACACGGGCATCCAGTGCTCG 0.662000 Kartagener syndrome 27 53 0 0 0.002096 0 0 MYCBP2 23077 broad.mit.edu 37 13 77673090 77673090 + Silent SNP C C T TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr13:77673090C>T ENST00000407578.2 - 56 8465 c.8199G>A c.(8197-8199)gaG>gaA p.E2733E MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.E2695E|MYCBP2_ENST00000360084.5_Silent_p.E218E|MYCBP2_ENST00000544440.2_Silent_p.E2695E NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2695 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TAGAGGACAGCTCTGATTTTC 0.413000 32 66 0 0 0.002836 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 3 39 0 0 0.004672 0 0 CNGA4 1262 broad.mit.edu 37 11 6261928 6261928 + Nonsense_Mutation SNP C C T TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr11:6261928C>T ENST00000379936.2 + 4 1019 c.904C>T c.(904-906)Cga>Tga p.R302* CNGA4_ENST00000533426.1_Nonsense_Mutation_p.R71* NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 302 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTGGAGCGGCGAGTTATTGA 0.542000 14 40 0 0 0.002450 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 17 0 0 0.004672 0 0 NAV3 89795 broad.mit.edu 37 12 78583811 78583811 + Missense_Mutation SNP C C T TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr12:78583811C>T ENST00000397909.2 + 34 6276 c.6103C>T c.(6103-6105)Cct>Tct p.P2035S NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Missense_Mutation_p.P2013S|NAV3_ENST00000536525.2_Missense_Mutation_p.P2013S|NAV3_ENST00000266692.7_Missense_Mutation_p.P1836S Q8IVL0 NAV3_HUMAN neuron navigator 3 2035 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 TACGCTGATTCCTAAACCAAT 0.353000 HNSCC(70;0.22) 37 56 0 0 0.004289 0 0 SAMD15 161394 broad.mit.edu 37 14 77844257 77844257 + Missense_Mutation SNP G G A TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr14:77844257G>A ENST00000216471.4 + 1 782 c.496G>A c.(496-498)Gaa>Aaa p.E166K SAMD15_ENST00000533095.2_Intron NM_001010860.1 NP_001010860.1 Q9P1V8 SAM15_HUMAN sterile alpha motif domain containing 15 166 breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GCCACCAACGGAAACCATGTC 0.493000 35 82 0 0 0.003271 0 0 HTATIP2 10553 broad.mit.edu 37 11 20404724 20404724 + Silent SNP G G A TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr11:20404724G>A ENST00000451739.2 + 5 1143 c.702G>A c.(700-702)ggG>ggA p.G234G HTATIP2_ENST00000419348.2_Silent_p.G268G|HTATIP2_ENST00000531058.1_Silent_p.G188G|HTATIP2_ENST00000421577.2_Silent_p.G234G|HTATIP2_ENST00000443524.2_Silent_p.G234G NM_001098522.1 NP_001091992.1 Q9BUP3 HTAI2_HUMAN HIV-1 Tat interactive protein 2, 30kDa 234 angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter cytoplasm|nuclear envelope NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 ATGACCTGGGGAAAGCGCATG 0.473000 4 13 0 0 0.000248 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 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 15 38 0 0 0.003163 0 0 GPR98 84059 broad.mit.edu 37 5 90084066 90084066 + Missense_Mutation SNP A A G TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr5:90084066A>G ENST00000405460.2 + 68 13928 c.13832A>G c.(13831-13833)aAa>aGa p.K4611R GPR98_ENST00000425867.2_Missense_Mutation_p.K272R NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4611 Calx-beta 31. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTCATTATTAAACTTCATCTT 0.348000 19 29 0 0 0.008871 0 0 AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 5 --- --- --- --- ATXN1 6310 broad.mit.edu 37 6 16327864 16327865 + In_Frame_Ins INS - - TGCTGC TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr6:16327864_16327865insTGCTGC ENST00000244769.4 - 8 1613_1614 c.677_678insGCAGCA c.(676-678)cct>cGCAGCAct p.226_226P>RST ATXN1_ENST00000436367.1_In_Frame_Ins_p.226_226P>RST NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 226 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CCCTGCTGAGGtgctgctgctg 0.653 8 11 --- --- --- --- FAM35A 54537 broad.mit.edu 37 10 88911590 88911591 + Frame_Shift_Del DEL GT GT - TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr10:88911590_88911591delGT ENST00000298786.4 + 3 593_594 c.479_480delGT c.(478-480)gfs p.G160fs FAM35A_ENST00000298784.1_Frame_Shift_Del_p.G160fs Q86V20 FA35A_HUMAN family with sequence similarity 35, member A 160 endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2) 16 GATATATGTGGTAAGAACTTTA 0.366 28 78 --- --- --- --- TSC22D1 8848 broad.mit.edu 37 13 45148706 45148708 + In_Frame_Del DEL TGC TGC - rs112613609 TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr13:45148706_45148708delTGC ENST00000458659.2 - 1 1993_1995 c.1503_1505delGCA c.(1501-1506)caa>ca p.QQ507del TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 507 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) ttgttgttgttgctgctgctgct 0.507 7 97 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21146788 21146789 + RNA INS - - T rs34056823 TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr20:21146788_21146789insT ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA tgtattttGTATTTTTTTTTTT 0.401 3 5 --- --- --- --- MN1 4330 broad.mit.edu 37 22 28194931 28194933 + In_Frame_Del DEL TGT TGT - rs34890218 TCGA-DJ-A1QO-01A-11D-A14W-08 TCGA-DJ-A1QO-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49920921-d55d-47bd-a264-4f42dbdf8b30 0f82f0a9-494f-45a2-b451-9a06cd7b11e0 g.chr22:28194931_28194933delTGT ENST00000302326.4 - 1 2553_2555 c.1599_1601delACA c.(1597-1602)cag>ca p.QQ549del NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 549 Poly-Gln. binding p.Q550_R551insQ(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 ctgctgctgctgttgctgctgct 0.650 T ETV6 """AML, meningioma""" 4 7 --- --- --- ---