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 KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-HT-8015-01B-11D-A289-08 TCGA-HT-8015-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e55afa04-bc32-4818-ba2e-58dd4092e082 dd28cfbb-397f-4b40-aa68-d769844fabc5 g.chr8:41790659T>G ENST00000396930.3 - 18 5622 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ggggagggggtgggggtggag 0.627000 7 7 0 0 1 0 0 DAGLB 221955 broad.mit.edu 37 7 6449551 6449551 + Missense_Mutation SNP G G A rs138713047 by1000genomes TCGA-HT-8015-01B-11D-A289-08 TCGA-HT-8015-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e55afa04-bc32-4818-ba2e-58dd4092e082 dd28cfbb-397f-4b40-aa68-d769844fabc5 g.chr7:6449551G>A ENST00000297056.6 - 15 2105 c.1936C>T c.(1936-1938)Cgg>Tgg p.R646W DAGLB_ENST00000425398.2_Missense_Mutation_p.R517W|DAGLB_ENST00000436575.1_Missense_Mutation_p.R605W NM_139179.3 NP_631918.3 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta 646 lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity p.R646W(1) breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2) 26 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) TCCAAGGCCCGCATCAGGATG 0.587000 4 117 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21073899 21073899 + Missense_Mutation SNP C C A TCGA-HT-8015-01B-11D-A289-08 TCGA-HT-8015-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e55afa04-bc32-4818-ba2e-58dd4092e082 dd28cfbb-397f-4b40-aa68-d769844fabc5 g.chr16:21073899C>A ENST00000261383.3 - 25 3623 c.3624G>T c.(3622-3624)aaG>aaT p.K1208N DNAH3_ENST00000415178.1_Missense_Mutation_p.K1208N NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1208 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TAAACTCAAGCTTGGCAATTC 0.448000 4 82 0.00024832 0.000258253 1 1 0 ARNT2 9915 broad.mit.edu 37 15 80845028 80845028 + Silent SNP C C A TCGA-HT-8015-01B-11D-A289-08 TCGA-HT-8015-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e55afa04-bc32-4818-ba2e-58dd4092e082 dd28cfbb-397f-4b40-aa68-d769844fabc5 g.chr15:80845028C>A ENST00000533983.1 + 11 1308 c.969C>A c.(967-969)ccC>ccA p.P323P ARNT2_ENST00000527771.1_Silent_p.P323P|ARNT2_ENST00000303329.4_Silent_p.P334P Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 334 PAS 2. central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) TGTCGGTGCCCACAGAGTTCT 0.498000 4 91 0.00024832 0.000258253 1 1 0 FRG1B 0 broad.mit.edu 37 20 29614328 29614328 + Splice_Site SNP G G A rs137860963 by1000genomes TCGA-HT-8015-01B-11D-A289-08 TCGA-HT-8015-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e55afa04-bc32-4818-ba2e-58dd4092e082 dd28cfbb-397f-4b40-aa68-d769844fabc5 g.chr20:29614328G>A ENST00000278882.3 + 2 320 c.e2+1 FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGATACGTTGGTGAGTCAGTT 0.289000 3 34 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-HT-8015-01B-11D-A289-08 TCGA-HT-8015-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e55afa04-bc32-4818-ba2e-58dd4092e082 dd28cfbb-397f-4b40-aa68-d769844fabc5 g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 5 285 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45855771 45855771 + Missense_Mutation SNP G G A TCGA-HT-8015-01B-11D-A289-08 TCGA-HT-8015-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e55afa04-bc32-4818-ba2e-58dd4092e082 dd28cfbb-397f-4b40-aa68-d769844fabc5 g.chr19:45855771G>A ENST00000391945.4 - 21 2116 c.2039C>T c.(2038-2040)gCc>gTc p.A680V ERCC2_ENST00000391944.3_Missense_Mutation_p.A602V NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 680 cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CACCTTGTCGGCAAAGACCAT 0.612000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 4 113 0 0 1 0 0 HN1 51155 broad.mit.edu 37 17 73144759 73144759 + Missense_Mutation SNP G G A TCGA-HT-8015-01B-11D-A289-08 TCGA-HT-8015-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e55afa04-bc32-4818-ba2e-58dd4092e082 dd28cfbb-397f-4b40-aa68-d769844fabc5 g.chr17:73144759G>A ENST00000409753.3 - 2 349 c.64C>T c.(64-66)Cgg>Tgg p.R22W HN1_ENST00000581874.1_Missense_Mutation_p.R22W|HN1_ENST00000481647.1_5'UTR|HN1_ENST00000470924.1_5'UTR|HN1_ENST00000405458.3_5'UTR|HN1_ENST00000482348.1_5'UTR|HN1_ENST00000356033.4_Missense_Mutation_p.R22W|HN1_ENST00000392566.2_5'UTR|HN1_ENST00000465454.1_5'UTR|HN1_ENST00000476258.1_5'UTR NM_016185.2 NP_057269.1 Q9UK76 HN1_HUMAN hematological and neurological expressed 1 22 nucleus HN1/USH1G(2) breast(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) CCTGGAGGCCGCAAAACTCTG 0.393000 3 33 0 0 1 0 0 FLYWCH1 84256 broad.mit.edu 37 16 2983818 2983818 + Missense_Mutation SNP A A C TCGA-HT-8015-01B-11D-A289-08 TCGA-HT-8015-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e55afa04-bc32-4818-ba2e-58dd4092e082 dd28cfbb-397f-4b40-aa68-d769844fabc5 g.chr16:2983818A>C ENST00000399667.2 + 6 1714 c.1351A>C c.(1351-1353)Acc>Ccc p.T451P FLYWCH1_ENST00000416288.2_Missense_Mutation_p.T450P|FLYWCH1_ENST00000253928.9_Missense_Mutation_p.T451P Q4VC44 FWCH1_HUMAN FLYWCH-type zinc finger 1 451 nucleus DNA binding|metal ion binding kidney(1)|lung(3) 4 GGTGTATTGGACCTGCCGGGA 0.692000 4 12 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-HT-8015-01B-11D-A289-08 TCGA-HT-8015-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e55afa04-bc32-4818-ba2e-58dd4092e082 dd28cfbb-397f-4b40-aa68-d769844fabc5 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 4 60 0 0 1 0 0 SCRN1 9805 broad.mit.edu 37 7 29983623 29983623 + Missense_Mutation SNP C C A TCGA-HT-8015-01B-11D-A289-08 TCGA-HT-8015-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e55afa04-bc32-4818-ba2e-58dd4092e082 dd28cfbb-397f-4b40-aa68-d769844fabc5 g.chr7:29983623C>A ENST00000426154.1 - 4 690 c.514G>T c.(514-516)Ggg>Tgg p.G172W SCRN1_ENST00000409497.1_Missense_Mutation_p.G172W|SCRN1_ENST00000416113.2_Missense_Mutation_p.G63W|SCRN1_ENST00000242059.5_Missense_Mutation_p.G172W NM_001145513.1 NP_001138985.1 Q12765 SCRN1_HUMAN secernin 1 172 exocytosis|proteolysis cytoplasm|nuclear membrane dipeptidase activity breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2) 25 CAGTACTTCCCTATGGTCTCG 0.527000 4 111 2.56e-06 2.89391e-06 1 1 0 MAP10 54627 broad.mit.edu 37 1 232941067 232941067 + Missense_Mutation SNP G G A TCGA-HT-8015-01B-11D-A289-08 TCGA-HT-8015-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e55afa04-bc32-4818-ba2e-58dd4092e082 dd28cfbb-397f-4b40-aa68-d769844fabc5 g.chr1:232941067G>A ENST00000418460.1 + 1 425 c.298G>A c.(298-300)Gct>Act p.A100T NM_019090.2 NP_061963.2 microtubule-associated protein 10 CCCGAGACCCGCTGGAGCGCT 0.562000 5 94 0 0 1 0 0 LRFN3 79414 broad.mit.edu 37 19 36430512 36430512 + Missense_Mutation SNP C C A TCGA-HT-8015-01B-11D-A289-08 TCGA-HT-8015-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e55afa04-bc32-4818-ba2e-58dd4092e082 dd28cfbb-397f-4b40-aa68-d769844fabc5 g.chr19:36430512C>A ENST00000588831.1 + 3 1239 c.185C>A c.(184-186)gCc>gAc p.A62D LRFN3_ENST00000246529.3_Missense_Mutation_p.A62D Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III domain containing 3 62 cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CGCCGGGCAGCCGAGCTGCGG 0.701000 4 64 1 1 1 1 0 CNTNAP3B 728577 broad.mit.edu 37 9 43915893 43915893 + Missense_Mutation SNP G G C rs143747399 by1000genomes TCGA-HT-8015-01B-11D-A289-08 TCGA-HT-8015-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e55afa04-bc32-4818-ba2e-58dd4092e082 dd28cfbb-397f-4b40-aa68-d769844fabc5 g.chr9:43915893G>C ENST00000377564.3 + 23 4134 c.3741G>C c.(3739-3741)atG>atC p.M1247I NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 1247 cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 CTGCTGTCATGGGAGGTAACA 0.433000 4 33 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-HT-8015-01B-11D-A289-08 TCGA-HT-8015-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e55afa04-bc32-4818-ba2e-58dd4092e082 dd28cfbb-397f-4b40-aa68-d769844fabc5 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 47 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-HT-8015-01B-11D-A289-08 TCGA-HT-8015-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e55afa04-bc32-4818-ba2e-58dd4092e082 dd28cfbb-397f-4b40-aa68-d769844fabc5 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 5 59 0 0 1 0 0 RP11-739N20.2 0 broad.mit.edu 37 1 204363980 204363980 + RNA DEL A A - TCGA-HT-8015-01B-11D-A289-08 TCGA-HT-8015-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e55afa04-bc32-4818-ba2e-58dd4092e082 dd28cfbb-397f-4b40-aa68-d769844fabc5 g.chr1:204363980delA ENST00000443515.1 + 0 146 tttgtttttcaaaaaaaaaaa 0.308 4 6 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939829 31939830 + Frame_Shift_Ins INS - - A TCGA-HT-8015-01B-11D-A289-08 TCGA-HT-8015-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e55afa04-bc32-4818-ba2e-58dd4092e082 dd28cfbb-397f-4b40-aa68-d769844fabc5 g.chr6:31939829_31939830insA ENST00000375331.2 + 1 222_223 c.56_57insA c.(55-57)gaafs p.E19fs DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000375349.3_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 19 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 CAGTGGCGGGCAAACCCCTCCC 0.634 10 207 --- --- --- --- CCT6P1 0 broad.mit.edu 37 7 65222951 65222951 + RNA DEL T T - TCGA-HT-8015-01B-11D-A289-08 TCGA-HT-8015-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e55afa04-bc32-4818-ba2e-58dd4092e082 dd28cfbb-397f-4b40-aa68-d769844fabc5 g.chr7:65222951delT ENST00000442266.1 + 0 561 TTTCTGTAACTTTTTTTTTTT 0.323 4 8 --- --- --- --- RNF126 55658 broad.mit.edu 37 19 649708 649708 + Frame_Shift_Del DEL C C - TCGA-HT-8015-01B-11D-A289-08 TCGA-HT-8015-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e55afa04-bc32-4818-ba2e-58dd4092e082 dd28cfbb-397f-4b40-aa68-d769844fabc5 g.chr19:649708delC ENST00000292363.5 - 6 702 c.547delG c.(547-549)ccfs p.A183fs NM_194460.2 NP_919442.1 Q9BV68 RN126_HUMAN ring finger protein 126 183 protein binding|zinc ion binding lung(1) 1 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGCCGTTGGCCCCCCAGGCG 0.672 4 7 --- --- --- ---