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 FEM1A 55527 broad.mit.edu 37 19 4793717 4793717 + Silent SNP C C A TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr19:4793717C>A ENST00000269856.3 + 1 1990 c.1851C>A c.(1849-1851)gcC>gcA p.A617A AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 617 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity p.A617A(4) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) AGAAGACGGCCTACGAGCTGC 0.607000 5 43 1 1 1 1 0 NTSR2 23620 broad.mit.edu 37 2 11809697 11809697 + Missense_Mutation SNP G G A TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr2:11809697G>A ENST00000306928.5 - 1 593 c.559C>T c.(559-561)Ccg>Tcg p.P187S NM_012344.3 NP_036476.1 O95665 NTR2_HUMAN neurotensin receptor 2 187 sensory perception integral to plasma membrane breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) GCGGGCTCCGGCTCCCCGTCC 0.711000 13 22 0 0 1 0 0 ARFGAP1 55738 broad.mit.edu 37 20 61919073 61919073 + Missense_Mutation SNP G G A TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr20:61919073G>A ENST00000370283.4 + 13 1209 c.1069G>A c.(1069-1071)Gag>Aag p.E357K ARFGAP1_ENST00000370275.4_3'UTR|ARFGAP1_ENST00000518794.2_3'UTR|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.E244K|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.E291K|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.E365K|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.E312K NM_018209.2 NP_060679.1 Q8N6T3 ARFG1_HUMAN ADP-ribosylation factor GTPase activating protein 1 357 COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER cytosol|Golgi-associated vesicle membrane ARF GTPase activator activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1) 13 all_cancers(38;1.59e-09) CACCTCCACCGAGAGGAGGAG 0.662000 3 20 0 0 1 0 0 OFD1 8481 broad.mit.edu 37 X 13778509 13778509 + Missense_Mutation SNP C C T TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chrX:13778509C>T ENST00000380567.1 + 17 2382 c.1510C>T c.(1510-1512)Cgc>Tgc p.R504C OFD1_ENST00000340096.6_Missense_Mutation_p.R644C|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.R604C O75665 OFD1_HUMAN oral-facial-digital syndrome 1 644 cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 AGAGGCCGAACGCTTGGAAAA 0.488000 4 62 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16024590 16024590 + Silent SNP C C T TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr19:16024590C>T ENST00000402119.3 - 12 1953 c.1527G>A c.(1525-1527)gaG>gaA p.E509E CYP4F11_ENST00000326742.7_3'UTR|CYP4F11_ENST00000248041.7_Silent_p.E509E NM_021187.3 NP_067010.3 Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 509 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 AAAGTCCACCCTCTGCGCGCA 0.602000 4 38 0 0 1 0 0 PRRT3 285368 broad.mit.edu 37 3 9991405 9991405 + Missense_Mutation SNP T T G TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr3:9991405T>G ENST00000412055.1 - 2 524 c.395A>C c.(394-396)gAc>gCc p.D132A PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Missense_Mutation_p.D132A NM_207351.3 NP_997234.3 Q5FWE3 PRRT3_HUMAN proline-rich transmembrane protein 3 132 integral to membrane NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2) 13 CTCTTGTGAGTCCAGAGGTCC 0.572000 6 91 0 0 1 0 0 CORO1B 57175 broad.mit.edu 37 11 67209178 67209178 + Silent SNP A A G TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr11:67209178A>G ENST00000545016.1 - 4 565 c.480T>C c.(478-480)gcT>gcC p.A160A CORO1B_ENST00000341356.5_Intron|CORO1B_ENST00000453768.2_Intron|CORO1B_ENST00000393893.1_Intron Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 0 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) GGGGGGGGGGAGCACAAAACG 0.652000 5 20 0 0 1 0 0 FEM1A 55527 broad.mit.edu 37 19 4793724 4793724 + Missense_Mutation SNP C C A TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr19:4793724C>A ENST00000269856.3 + 1 1997 c.1858C>A c.(1858-1860)Ctg>Atg p.L620M AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 620 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity p.L620M(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GGCCTACGAGCTGCTGGACGA 0.607000 5 46 1 1 1 1 0 RASA1 5921 broad.mit.edu 37 5 86676346 86676346 + Missense_Mutation SNP G G C TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr5:86676346G>C ENST00000456692.2 + 20 2208 c.2093G>C c.(2092-2094)gGg>gCg p.G698A RASA1_ENST00000506290.1_Missense_Mutation_p.G709A|RASA1_ENST00000512763.1_Missense_Mutation_p.G708A|RASA1_ENST00000274376.6_Missense_Mutation_p.G875A NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 875 cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) TATATTTATGGGTGTTTACAG 0.363000 21 49 0 0 1 0 0 UFL1 23376 broad.mit.edu 37 6 96969746 96969746 + Translation_Start_Site SNP C C A TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr6:96969746C>A ENST00000369278.4 + 0 63 UFL1_ENST00000461673.1_3'UTR NM_015323.4 NP_056138.1 O94874 UFL1_HUMAN UFM1-specific ligase 1 negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity CGAGTCAGGCCGTGATGGCGG 0.687000 9 16 9.70103e-10 1.19058e-09 1 1 0 OGFOD2 79676 broad.mit.edu 37 12 123463748 123463748 + Missense_Mutation SNP T T G TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr12:123463748T>G ENST00000397389.2 + 8 1467 c.728T>G c.(727-729)cTt>cGt p.L243R OGFOD2_ENST00000545317.1_Missense_Mutation_p.L139R|OGFOD2_ENST00000536150.1_Missense_Mutation_p.L139R|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000538628.1_Missense_Mutation_p.L139R|OGFOD2_ENST00000545612.1_Missense_Mutation_p.L139R|OGFOD2_ENST00000228922.7_Missense_Mutation_p.L303R|OGFOD2_ENST00000454694.2_Missense_Mutation_p.L139R|OGFOD2_ENST00000538755.1_Missense_Mutation_p.L139R|ABCB9_ENST00000542678.1_5'UTR NM_024623.1 NP_078899.1 Q6N063 OGFD2_HUMAN 2-oxoglutarate and iron-dependent oxygenase domain containing 2 303 Fe2OG dioxygenase. iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(1)|endometrium(2)|lung(4)|pancreas(1) 8 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107) Vitamin C(DB00126) CGTTGGAACCTTGTCGTCTGG 0.672000 25 76 0 0 1 0 0 AIFM1 9131 broad.mit.edu 37 X 129267407 129267407 + Silent SNP G G A rs143792929 byFrequency TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chrX:129267407G>A ENST00000287295.3 - 13 1559 c.1329C>T c.(1327-1329)taC>taT p.Y443Y AIFM1_ENST00000460436.2_Silent_p.Y104Y|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000440263.1_Silent_p.Y91Y|AIFM1_ENST00000319908.3_Silent_p.Y439Y|AIFM1_ENST00000346424.2_Silent_p.Y156Y NM_001130847.3|NM_004208.3 NP_001124319.1|NP_004199.1 O95831 AIFM1_HUMAN apoptosis-inducing factor, mitochondrion-associated, 1 443 FAD-dependent oxidoreductase (By similarity). activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 ACTTTATATCGTAGAAGCATG 0.408000 10 251 0 0 1 0 0 FRRS1 391059 broad.mit.edu 37 1 100194098 100194099 + Frame_Shift_Del DEL AT AT - TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr1:100194098_100194099delAT ENST00000414213.1 - 9 1557_1558 c.956_957delAT c.(955-957)gfs p.D319fs FRRS1_ENST00000287474.5_Frame_Shift_Del_p.D319fs Q6ZNA5 FRRS1_HUMAN ferric-chelate reductase 1 319 DOMON. electron transport chain|transport integral to membrane ferric-chelate reductase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 26 all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201) Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206) TTGTGTTTAGATCAAATCTATT 0.391 9 134 --- --- --- --- PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr2:131129929_131129934delGACGGG ENST00000175756.5 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cag>ca p.QTG371del PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 371 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 4 5 --- --- --- --- CYTIP 9595 broad.mit.edu 37 2 158275098 158275098 + Frame_Shift_Del DEL T T - TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr2:158275098delT ENST00000264192.3 - 7 671 c.550delA c.(550-552)ctfs p.T184fs CYTIP_ENST00000540637.1_Frame_Shift_Del_p.T78fs NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 184 Interaction with CYTH1. regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 TGTTTCAAAGTTTGCTGTGAG 0.328 7 146 --- --- --- --- BRAF 673 broad.mit.edu 37 7 140477827 140477841 + In_Frame_Del DEL TGCTGAGGTGTAGGT TGCTGAGGTGTAGGT - TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr7:140477827_140477841delTGCTGAGGTGTAGGT ENST00000288602.6 - 12 1527_1541 c.1467_1481delACCTACACCTCAGCA c.(1465-1482)gcg>gc p.APTPQQ489del NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 489 Protein kinase. 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.L485_P490>Y(2)|p.N486_P490del(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) GGCTTGTAACTGCTGAGGTGTAGGTGCTGTCACAT 0.353 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 8 48 --- --- --- --- ZYX 7791 broad.mit.edu 37 7 143080154 143080155 + Frame_Shift_Ins INS - - C TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr7:143080154_143080155insC ENST00000322764.5 + 5 1107_1108 c.762_763insC c.(760-765)ggccccfs p.GP254fs ZYX_ENST00000449423.2_Frame_Shift_Ins_p.GP167fs|ZYX_ENST00000477373.1_3'UTR|ZYX_ENST00000392910.2_Frame_Shift_Ins_p.GP97fs NM_001010972.1|NM_003461.4 NP_001010972.1|NP_003452.1 Q15942 ZYX_HUMAN zyxin 254 cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber protein binding|zinc ion binding breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1) 17 Melanoma(164;0.205) AGCCCCGAGGGCCCCCAGCCTC 0.599 9 491 --- --- --- --- RP11-262H14.3 0 broad.mit.edu 37 9 66545695 66545695 + RNA DEL A A - TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr9:66545695delA ENST00000445604.2 - 0 669 CTGTAAGAGGAAAAAAAAACA 0.373 5 4 --- --- --- --- RP11-114H24.7 0 broad.mit.edu 37 15 78212706 78212711 + RNA DEL AGGGCT AGGGCT - TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr15:78212706_78212711delAGGGCT ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA gccccttaaaagggctagggctaggc 0.510 2 4 --- --- --- --- AC068831.10 0 broad.mit.edu 37 15 91577398 91577398 + RNA DEL G G - rs71463787 TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr15:91577398delG ENST00000557804.1 + 0 465 TCCTGCTGCCGGTTCAGGTGA 0.627 3 3 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81183625 81183626 + RNA DEL TT TT - rs11296516 TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr16:81183625_81183626delTT ENST00000533478.1 - 0 2609 PKD1L2_ENST00000525539.1_RNA NM_001278425.1 NP_001265354.1 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 TTGTTCACACtttttttttttt 0.465 3 4 --- --- --- --- CTC-513N18.6 0 broad.mit.edu 37 19 20663030 20663030 + RNA DEL T T - TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr19:20663030delT ENST00000598131.1 + 0 256 gaggagcttcttttgtccagc 0.532 2 4 --- --- --- ---