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-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 6 57 0 0 0.217242 0 0 NCBP1 4686 broad.mit.edu 37 9 100407439 100407439 + Missense_Mutation SNP C C T TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr9:100407439C>T ENST00000375147.3 + 5 678 c.422C>T c.(421-423)gCc>gTc p.A141V NM_002486.4 NP_002477.1 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa 141 MIF4G. gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex protein binding|RNA cap binding NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4) 19 Acute lymphoblastic leukemia(62;0.158) CATGTGATTGCCGCCCCATCA 0.383000 4 181 0 0 0.150653 0 0 TMEM234 56063 broad.mit.edu 37 1 32682537 32682537 + Missense_Mutation SNP C C T TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr1:32682537C>T ENST00000309777.6 - 5 342 c.340G>A c.(340-342)Ggc>Agc p.G114S TMEM234_ENST00000373593.1_3'UTR|TMEM234_ENST00000485689.1_5'UTR|TMEM234_ENST00000545122.1_3'UTR|TMEM234_ENST00000344461.3_Missense_Mutation_p.G114S NM_019118.3 NP_061991.3 Q8WY98 TM234_HUMAN transmembrane protein 234 114 integral to membrane kidney(2)|lung(3) 5 AGCACCATGCCAGCAACTGCT 0.552000 3 49 0 0 0.150653 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240794 39240794 + Silent SNP C C A rs9894106 TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr17:39240794C>A ENST00000391417.4 + 1 336 c.336C>A c.(334-336)ccC>ccA p.P112P NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.R111_C115delRPSCC(1)|p.P112P(1)|p.?(1) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 gctgccgccccagctgctgcc 0.667000 3 16 6.4e-05 7.25333e-05 0.115264 1 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 3 77 0 0 0.150653 0 0 PCDH8 5100 broad.mit.edu 37 13 53421761 53421761 + Missense_Mutation SNP C C T TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr13:53421761C>T ENST00000377942.3 - 1 1014 c.811G>A c.(811-813)Gcc>Acc p.A271T PCDH8_ENST00000338862.4_Missense_Mutation_p.A271T NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 271 Cadherin 3. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) TCGGGGTCGGCTGCGTCCAGG 0.716000 2 4 0 0 0.115264 0 0 TTN 7273 broad.mit.edu 37 2 179439488 179439488 + Missense_Mutation SNP G G A TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr2:179439488G>A ENST00000589042.1 - 326 71595 c.71371C>T c.(71371-71373)Ctt>Ttt p.L23791F TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L14726F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L14918F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L22150F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L21223F|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L14851F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22150 Fibronectin type-III 73. 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) CCAGTAGTAAGGCGGGTGGCT 0.443000 3 119 0 0 0.150653 0 0 ANAPC5 51433 broad.mit.edu 37 12 121766258 121766258 + Missense_Mutation SNP C C T TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr12:121766258C>T ENST00000261819.3 - 10 1286 c.1165G>A c.(1165-1167)Gct>Act p.A389T ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000536366.1_Silent_p.E210E|ANAPC5_ENST00000541887.1_Missense_Mutation_p.A376T|ANAPC5_ENST00000344395.4_Missense_Mutation_p.A277T|ANAPC5_ENST00000535482.1_Missense_Mutation_p.A55T|ANAPC5_ENST00000441917.2_Missense_Mutation_p.A277T NM_016237.4 NP_057321.2 Q9UJX4 APC5_HUMAN anaphase promoting complex subunit 5 389 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3) 31 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCAGCAAAAGCTCTCTGTTGA 0.488000 8 60 0 0 0.335167 0 0 PRICKLE1 0 broad.mit.edu 37 12 42860031 42860031 + Missense_Mutation SNP T T C TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr12:42860031T>C ENST00000455697.1 - 6 1025 c.740A>G c.(739-741)tAt>tGt p.Y247C PRICKLE1_ENST00000445766.2_Missense_Mutation_p.Y247C|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.Y247C|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.Y247C|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.Y247C NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 247 LIM zinc-binding 2. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) GTACTCCGCATAGAGAGACTC 0.522000 12 57 0 0 0.387290 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342186 60342186 + RNA SNP T T C rs79096325 TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr17:60342186T>C ENST00000581291.1 - 0 1967 breast(2)|kidney(1)|lung(2) 5 GCTGGGGGTGTTGGGAGGGGC 0.498000 2 10 0 0 0.115264 0 0 BRD8 10902 broad.mit.edu 37 5 137504371 137504371 + Missense_Mutation SNP G G A TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr5:137504371G>A ENST00000230901.5 - 9 664 c.649C>T c.(649-651)Ccc>Tcc p.P217S BRD8_ENST00000254900.5_Intron|BRD8_ENST00000411594.2_Missense_Mutation_p.P217S|BRD8_ENST00000455658.2_Intron|BRD8_ENST00000402931.1_Intron NM_006696.3 NP_006687.3 Q9H0E9 BRD8_HUMAN bromodomain containing 8 177 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AAAGTCCCGGGGGTTACCTAA 0.483000 7 50 0 0 0.248553 0 0 NAV2 89797 broad.mit.edu 37 11 20113839 20113839 + Missense_Mutation SNP T T C TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr11:20113839T>C ENST00000396085.1 + 29 6110 c.5749T>C c.(5749-5751)Tcc>Ccc p.S1917P NAV2_ENST00000533917.1_Missense_Mutation_p.S978P|NAV2_ENST00000540292.1_Missense_Mutation_p.S1904P|NAV2_ENST00000396087.3_Missense_Mutation_p.S1973P|NAV2_ENST00000527559.2_Missense_Mutation_p.S1902P|NAV2_ENST00000311043.8_Missense_Mutation_p.S978P|NAV2_ENST00000360655.4_Missense_Mutation_p.S1850P|NAV2_ENST00000349880.4_Missense_Mutation_p.S1914P NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1973 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TTCCCAAGTGTCCATCTCTGC 0.567000 3 147 0 0 0.150653 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 5 49 0 0 0.217242 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 4 41 0 0 0.184627 0 0 MYLK 4638 broad.mit.edu 37 3 123419239 123419239 + Missense_Mutation SNP C C T TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr3:123419239C>T ENST00000360772.3 - 19 3454 c.3076G>A c.(3076-3078)Gtg>Atg p.V1026M MYLK_ENST00000360304.3_Missense_Mutation_p.V1026M|MYLK_ENST00000346322.5_Missense_Mutation_p.V957M|MYLK_ENST00000359169.1_Missense_Mutation_p.V1026M|MYLK_ENST00000475616.1_Missense_Mutation_p.V1026M Q15746 MYLK_HUMAN myosin light chain kinase 1026 6 X 12 AA approximate tandem repeats. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GCGTTGCCCACGGGTTTCAAG 0.602000 5 250 0 0 0.184627 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 4 42 0 0 0.184627 0 0 LRRC37B 114659 broad.mit.edu 37 17 30349698 30349698 + Silent SNP A A G TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr17:30349698A>G ENST00000327564.7 + 1 1675 c.1614A>G c.(1612-1614)gaA>gaG p.E538E LRRC37B_ENST00000584368.1_Silent_p.E523E|LRRC37B_ENST00000394713.3_Silent_p.E511E|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000543378.2_Silent_p.E429E|LRRC37B_ENST00000341671.7_Silent_p.E511E Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 511 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) CACCAGAGGAACAGAAGGCCT 0.517000 3 178 0 0 0.115264 0 0 INTS3 65123 broad.mit.edu 37 1 153713819 153713819 + Missense_Mutation SNP T T C TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr1:153713819T>C ENST00000318967.2 + 3 861 c.293T>C c.(292-294)cTc>cCc p.L98P INTS3_ENST00000456435.1_5'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.L98P NM_023015.3 NP_075391.3 Q68E01 INT3_HUMAN integrator complex subunit 3 98 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ACTCTCATCCTCACTGAACCT 0.488000 3 206 0 0 0.115264 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 39 0 0 0.115264 0 0 CCDC110 256309 broad.mit.edu 37 4 186380647 186380647 + Missense_Mutation SNP C C T TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr4:186380647C>T ENST00000307588.3 - 6 1169 c.1094G>A c.(1093-1095)gGc>gAc p.G365D CCDC110_ENST00000510617.1_Missense_Mutation_p.G365D|CCDC110_ENST00000393540.3_Missense_Mutation_p.G328D NM_152775.3 NP_689988.1 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 365 nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9) 30 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) AATATTTTTGCCAGTGATGGG 0.323000 4 225 0 0 0.150653 0 0 KBTBD6 89890 broad.mit.edu 37 13 41705440 41705440 + Missense_Mutation SNP G G T TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr13:41705440G>T ENST00000379485.1 - 1 1442 c.1208C>A c.(1207-1209)aCa>aAa p.T403K KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 403 protein binding p.T403K(7) NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CCAGAGGTCTGTCCTGGGCTG 0.507000 4 197 0.184627 0.202494 0.184627 1 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240795 39240795 + Missense_Mutation SNP A A T rs9894966 by1000genomes TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr17:39240795A>T ENST00000391417.4 + 1 337 c.337A>T c.(337-339)Agc>Tgc p.S113C NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.R111_C115delRPSCC(1)|p.S113C(1)|p.?(1) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 ctgccgccccagctgctgccg 0.667000 3 14 0 0 0.115264 0 0 DNM1P47 0 broad.mit.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr15:102304772T>C ENST00000561463.1 + 0 12818 CACAGCGGCGTGACGAGACTC 0.587000 3 13 0 0 0.150653 0 0 KCNK1 3775 broad.mit.edu 37 1 233750036 233750036 + Missense_Mutation SNP T T A TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr1:233750036T>A ENST00000366621.3 + 1 287 c.119T>A c.(118-120)gTc>gAc p.V40D NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 40 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) GGCGCAGTGGTCTTCTCCTCG 0.657000 6 31 0 0 0.248553 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf 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 14 95 0 0 0.479597 0 0 UNC13A 23025 broad.mit.edu 37 19 17728579 17728579 + Missense_Mutation SNP G G A TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr19:17728579G>A ENST00000428389.2 - 42 4753 c.4754C>T c.(4753-4755)gCc>gTc p.A1585V UNC13A_ENST00000552293.1_Missense_Mutation_p.A1472V|UNC13A_ENST00000519716.2_Missense_Mutation_p.A1497V|UNC13A_ENST00000252773.7_Missense_Mutation_p.A1497V|UNC13A_ENST00000551649.1_Missense_Mutation_p.A1497V|UNC13A_ENST00000550896.1_Missense_Mutation_p.A1470V Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 1497 C2 3. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 GAGCGACAGGGCATAGCGCAA 0.602000 4 136 0 0 0.184627 0 0