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 ASPG 374569 broad.mit.edu 37 14 104552174 104552174 + Missense_Mutation SNP C C T TCGA-DE-A69J-01A-21D-A397-08 TCGA-DE-A69J-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7726b10-701c-4898-b3d5-0361bece78ce 8c53d6a3-1198-4ca1-880e-3e04703114a4 g.chr14:104552174C>T ENST00000551177.1 + 1 159 c.67C>T c.(67-69)Cgg>Tgg p.R23W ASPG_ENST00000546892.2_Missense_Mutation_p.R23W|ASPG_ENST00000455920.2_Missense_Mutation_p.R23W NM_001080464.2 NP_001073933.2 Q86U10 LPP60_HUMAN asparaginase homolog (S. cerevisiae) 23 lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 11 CATTGGCATGCGGAGTGAGCT 0.751000 3 46 0 0 1 0 0 LILRB5 0 broad.mit.edu 37 19 54754934 54754934 + Silent SNP A A G TCGA-DE-A69J-01A-21D-A397-08 TCGA-DE-A69J-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7726b10-701c-4898-b3d5-0361bece78ce 8c53d6a3-1198-4ca1-880e-3e04703114a4 g.chr19:54754934A>G ENST00000450632.1 - 13 1778 c.1701T>C c.(1699-1701)tcT>tcC p.S567S LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 368 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGAATTCCCCAGACAGTGGGG 0.592000 3 33 0 0 1 0 0 RAB3IP 117177 broad.mit.edu 37 12 70178581 70178581 + Missense_Mutation SNP G G A TCGA-DE-A69J-01A-21D-A397-08 TCGA-DE-A69J-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7726b10-701c-4898-b3d5-0361bece78ce 8c53d6a3-1198-4ca1-880e-3e04703114a4 g.chr12:70178581G>A ENST00000550536.1 + 4 1097 c.640G>A c.(640-642)Gct>Act p.A214T RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000483530.2_Missense_Mutation_p.A198T|RAB3IP_ENST00000378815.6_Missense_Mutation_p.A198T|RAB3IP_ENST00000362025.5_Missense_Mutation_p.A214T|RAB3IP_ENST00000553099.1_5'UTR|RAB3IP_ENST00000247833.7_Missense_Mutation_p.A198T|RAB3IP_ENST00000551641.1_5'UTR NM_001278402.1|NM_175623.2 NP_001265331.1|NP_783322.1 Q96QF0 RAB3I_HUMAN RAB3A interacting protein 214 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) AGAACTCACAGCTAGTCTATT 0.338000 3 46 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276366 186276366 + Silent SNP G G A TCGA-DE-A69J-01A-21D-A397-08 TCGA-DE-A69J-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7726b10-701c-4898-b3d5-0361bece78ce 8c53d6a3-1198-4ca1-880e-3e04703114a4 g.chr1:186276366G>A ENST00000445192.2 + 7 1560 c.1515G>A c.(1513-1515)gaG>gaA p.E505E PRG4_ENST00000367485.4_Silent_p.E412E|PRG4_ENST00000367486.3_Silent_p.E462E|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.E464E NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 505 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTCCCAAGGAGCCTGCACCCA 0.647000 6 139 0 0 1 0 0 NFIX 4784 broad.mit.edu 37 19 13184731 13184731 + Missense_Mutation SNP A A G TCGA-DE-A69J-01A-21D-A397-08 TCGA-DE-A69J-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7726b10-701c-4898-b3d5-0361bece78ce 8c53d6a3-1198-4ca1-880e-3e04703114a4 g.chr19:13184731A>G ENST00000358552.3 + 4 706 c.706A>G c.(706-708)Aca>Gca p.T236A NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000587760.1_Missense_Mutation_p.T229A|NFIX_ENST00000397661.2_Missense_Mutation_p.T237A|NFIX_ENST00000587260.1_Missense_Mutation_p.T236A|NFIX_ENST00000588228.1_Missense_Mutation_p.T190A|NFIX_ENST00000360105.4_Missense_Mutation_p.T240A|NFIX_ENST00000585575.1_Missense_Mutation_p.T229A|NFIX_ENST00000592199.1_Missense_Mutation_p.T237A Q14938 NFIX_HUMAN nuclear factor I/X (CCAAT-binding transcription factor) 237 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) TCCTGTTGCAACAGCATCAGG 0.597000 3 36 0 0 1 0 0 LILRB5 0 broad.mit.edu 37 19 54754843 54754843 + Missense_Mutation SNP A A G TCGA-DE-A69J-01A-21D-A397-08 TCGA-DE-A69J-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7726b10-701c-4898-b3d5-0361bece78ce 8c53d6a3-1198-4ca1-880e-3e04703114a4 g.chr19:54754843A>G ENST00000450632.1 - 13 1869 c.1792T>C c.(1792-1794)Tcc>Ccc p.S598P LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 423 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTGGGGAGGCCTGGGGG 0.607000 4 37 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DE-A69J-01A-21D-A397-08 TCGA-DE-A69J-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7726b10-701c-4898-b3d5-0361bece78ce 8c53d6a3-1198-4ca1-880e-3e04703114a4 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 34 56 0 0 1 0 0 BMP2K 55589 broad.mit.edu 37 4 79792115 79792115 + Silent SNP A A G TCGA-DE-A69J-01A-21D-A397-08 TCGA-DE-A69J-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7726b10-701c-4898-b3d5-0361bece78ce 8c53d6a3-1198-4ca1-880e-3e04703114a4 g.chr4:79792115A>G ENST00000335016.5 + 11 1576 c.1410A>G c.(1408-1410)caA>caG p.Q470Q BMP2K_ENST00000502871.1_Silent_p.Q470Q NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 470 Gln/His-rich. nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 agcaacagcaacagcagcagc 0.547000 3 28 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 13251117 13251117 + Missense_Mutation SNP G G A TCGA-DE-A69J-01A-21D-A397-08 TCGA-DE-A69J-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7726b10-701c-4898-b3d5-0361bece78ce 8c53d6a3-1198-4ca1-880e-3e04703114a4 g.chr8:13251117G>A ENST00000276297.4 - 4 1668 c.1259C>T c.(1258-1260)aCg>aTg p.T420M DLC1_ENST00000316609.5_Missense_Mutation_p.T420M|DLC1_ENST00000511869.1_Missense_Mutation_p.T420M NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 420 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TGGGAGGTCCGTGGACTCAGT 0.408000 4 95 0 0 1 0 0 ZNF543 125919 broad.mit.edu 37 19 57835089 57835089 + Nonsense_Mutation SNP C C T TCGA-DE-A69J-01A-21D-A397-08 TCGA-DE-A69J-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7726b10-701c-4898-b3d5-0361bece78ce 8c53d6a3-1198-4ca1-880e-3e04703114a4 g.chr19:57835089C>T ENST00000321545.4 + 2 403 c.58C>T c.(58-60)Cag>Tag p.Q20* NM_213598.3 NP_998763.2 Q08ER8 ZN543_HUMAN zinc finger protein 543 20 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GACATTCACCCAGGAGGAGTG 0.498000 64 86 0 0 1 0 0 RBBP6 5930 broad.mit.edu 37 16 24567752 24567752 + Missense_Mutation SNP A A G TCGA-DE-A69J-01A-21D-A397-08 TCGA-DE-A69J-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7726b10-701c-4898-b3d5-0361bece78ce 8c53d6a3-1198-4ca1-880e-3e04703114a4 g.chr16:24567752A>G ENST00000319715.4 + 7 1090 c.658A>G c.(658-660)Ata>Gta p.I220V RBBP6_ENST00000348022.2_Missense_Mutation_p.I220V|RBBP6_ENST00000381039.3_Missense_Mutation_p.I220V NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 220 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) AAAATATGCAATACCAACTAT 0.393000 18 42 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81145867 81145867 + RNA SNP G G C TCGA-DE-A69J-01A-21D-A397-08 TCGA-DE-A69J-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7726b10-701c-4898-b3d5-0361bece78ce 8c53d6a3-1198-4ca1-880e-3e04703114a4 g.chr16:81145867G>C ENST00000525539.1 - 0 6883 PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TGTTCATTTTGGGATTCAACC 0.542000 6 137 0 0 1 0 0 TEX14 56155 broad.mit.edu 37 17 56663324 56663324 + Nonsense_Mutation SNP G G A TCGA-DE-A69J-01A-21D-A397-08 TCGA-DE-A69J-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7726b10-701c-4898-b3d5-0361bece78ce 8c53d6a3-1198-4ca1-880e-3e04703114a4 g.chr17:56663324G>A ENST00000389934.3 - 18 3025 c.2908C>T c.(2908-2910)Cag>Tag p.Q970* TEX14_ENST00000240361.8_Nonsense_Mutation_p.Q976*|TEX14_ENST00000349033.5_Nonsense_Mutation_p.Q970* NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 976 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) ATGGGGGGCTGCAGCAGGGCG 0.507000 20 112 0 0 1 0 0 AC108142.1 0 broad.mit.edu 37 4 183018822 183018822 + RNA DEL C C - TCGA-DE-A69J-01A-21D-A397-08 TCGA-DE-A69J-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7726b10-701c-4898-b3d5-0361bece78ce 8c53d6a3-1198-4ca1-880e-3e04703114a4 g.chr4:183018822delC ENST00000509012.1 - 0 149 CATAGGCTGGCCCCGTGTGGT 0.423 2 4 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481471 142481472 + RNA INS - - GCTTAA TCGA-DE-A69J-01A-21D-A397-08 TCGA-DE-A69J-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7726b10-701c-4898-b3d5-0361bece78ce 8c53d6a3-1198-4ca1-880e-3e04703114a4 g.chr7:142481471_142481472insGCTTAA ENST00000603901.1 + 0 454 NR_001296.3 CTCACCTCCAGGACACATTTCT 0.480 3 6 --- --- --- --- CNGB3 54714 broad.mit.edu 37 8 87641267 87641268 + Frame_Shift_Ins INS - - C TCGA-DE-A69J-01A-21D-A397-08 TCGA-DE-A69J-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7726b10-701c-4898-b3d5-0361bece78ce 8c53d6a3-1198-4ca1-880e-3e04703114a4 g.chr8:87641267_87641268insC ENST00000320005.5 - 12 1406_1407 c.1359_1360insG c.(1357-1362)aaacttfs p.L454fs NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 454 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 GCGCGGAAGTAGTTCTGATTGG 0.426 51 118 --- --- --- --- RP11-65M17.3 0 broad.mit.edu 37 11 112332121 112332121 + RNA DEL T T - TCGA-DE-A69J-01A-21D-A397-08 TCGA-DE-A69J-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7726b10-701c-4898-b3d5-0361bece78ce 8c53d6a3-1198-4ca1-880e-3e04703114a4 g.chr11:112332121delT ENST00000528496.1 + 0 231 TGATTTTATGTTTTTTTTTTT 0.378 2 4 --- --- --- ---