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 PASK 23178 broad.mit.edu 37 2 242065688 242065688 + Missense_Mutation SNP C C T rs149167340 byFrequency TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff g.chr2:242065688C>T ENST00000403638.3 - 10 2733 c.2642G>A c.(2641-2643)gGg>gAg p.G881E PASK_ENST00000544142.1_Missense_Mutation_p.G695E|PASK_ENST00000539818.1_Missense_Mutation_p.G665E|PASK_ENST00000234040.4_Missense_Mutation_p.G881E|PASK_ENST00000358649.4_Missense_Mutation_p.G881E|PASK_ENST00000405260.1_Missense_Mutation_p.G881E NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 881 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) GCCAGCAGCCCCGCGCATCAC 0.642000 4 84 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 3 44 0 0 1 0 0 H2AFX 3014 broad.mit.edu 37 11 118966071 118966071 + Missense_Mutation SNP G G T TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff g.chr11:118966071G>T ENST00000530167.1 - 1 106 c.34C>A c.(34-36)Cgc>Agc p.R12S NM_002105.2 NP_002096.1 P16104 H2AX_HUMAN H2A histone family, member X 12 DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation nucleoplasm|nucleosome DNA binding|enzyme binding|histone binding lung(3) 3 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.47e-05) GCCTTGGCGCGGGCCTTGCCG 0.687000 Chromatin Structure OREG0021395 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 15 0.00909568 0.0093632 1 1 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074431 76074431 + RNA SNP C C T rs149323153 by1000genomes TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff g.chr15:76074431C>T ENST00000395215.3 + 0 610 p.S190L(2) CTCCAGTCCTCGAGCTGCAGA 0.547000 6 44 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75102110 75102110 + Missense_Mutation SNP G G A TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff g.chr1:75102110G>A ENST00000326665.5 - 6 675 c.457C>T c.(457-459)Cca>Tca p.P153S NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 153 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GCAGTATATGGTCGAGGGGCT 0.403000 15 264 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33335734 33335734 + Nonsense_Mutation SNP C C T TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff g.chr2:33335734C>T ENST00000404816.2 + 4 1302 c.949C>T c.(949-951)Cag>Tag p.Q317* LTBP1_ENST00000354476.3_Nonsense_Mutation_p.Q317* Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 317 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CTTTCCAGCCCAGAAGGGGAT 0.483000 12 134 0 0 1 0 0 TRAV29DV5 0 broad.mit.edu 37 14 22631217 22631217 + RNA SNP C C T rs2075492 by1000genomes TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff g.chr14:22631217C>T ENST00000390458.3 + 0 84 AGGCAGGAGACAAGACAATCT 0.493000 OREG0022575 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 46 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff g.chr16:90161902A>G ENST00000564451.1 + 0 1255 TUBB8P7_ENST00000567960.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 4 37 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 23 0 0 1 0 0 DBR1 51163 broad.mit.edu 37 3 137892429 137892429 + Silent SNP G G A rs35147674 byFrequency TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff g.chr3:137892429G>A ENST00000260803.4 - 2 390 c.237C>T c.(235-237)ctC>ctT p.L79L DBR1_ENST00000463982.2_5'UTR|DBR1_ENST00000505015.2_5'UTR NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 79 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 CCCCAATGAAGAGCGTGAGAA 0.408000 5 123 0 0 1 0 0 OR7A17 26333 broad.mit.edu 37 19 14992048 14992048 + Silent SNP G G A TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff g.chr19:14992048G>A ENST00000327462.2 - 1 216 c.120C>T c.(118-120)ctC>ctT p.L40L NM_030901.1 NP_112163.1 O14581 OR7AH_HUMAN olfactory receptor, family 7, subfamily A, member 17 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Ovarian(108;0.203) GCAGATTCCCGAGCACAGTGA 0.502000 6 62 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff 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 35 68 0 0 1 0 0 EMR2 30817 broad.mit.edu 37 19 14865797 14865797 + Missense_Mutation SNP A A G TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff g.chr19:14865797A>G ENST00000315576.3 - 14 2010 c.1559T>C c.(1558-1560)tTt>tCt p.F520S EMR2_ENST00000392965.3_Intron|EMR2_ENST00000346057.1_Missense_Mutation_p.F471S|EMR2_ENST00000594294.1_Missense_Mutation_p.F471S|EMR2_ENST00000392964.3_Silent_p.L184L|EMR2_ENST00000392967.2_Missense_Mutation_p.F509S|EMR2_ENST00000353876.1_Missense_Mutation_p.F427S|EMR2_ENST00000594076.1_Missense_Mutation_p.F427S|EMR2_ENST00000596991.2_Missense_Mutation_p.F509S|EMR2_ENST00000601345.1_Missense_Mutation_p.F509S|EMR2_ENST00000353005.1_Missense_Mutation_p.F378S|EMR2_ENST00000595839.1_Missense_Mutation_p.F378S NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 520 GPS. cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 GAGGACGGCAAAGCTGCTCAG 0.572000 4 68 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72658179 72658179 + RNA SNP T T C rs147293416 by1000genomes TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff g.chr7:72658179T>C ENST00000425256.1 - 0 1732 NR_002164.1 cagagtgatttcggatgaatt 0.507000 4 50 0 0 1 0 0 TIMD4 91937 broad.mit.edu 37 5 156378745 156378747 + In_Frame_Del DEL TTG TTG - TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff g.chr5:156378745_156378747delTTG ENST00000274532.2 - 3 511_513 c.455_457delCAA c.(454-459)agc>a p.TS152del TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 152 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGTGGGGCTTGTTGTTGTTGT 0.537 9 264 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48866910 48866910 + Frame_Shift_Del DEL T T - TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff g.chr8:48866910delT ENST00000314191.2 - 5 552 c.496delA c.(496-498)tafs p.I166fs PRKDC_ENST00000338368.3_Frame_Shift_Del_p.I166fs|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 166 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GTATCTGGTATTTTTTTTTTC 0.264 Non-homologous end-joining 2 4 --- --- --- --- TG 7038 broad.mit.edu 37 8 133981764 133981765 + Frame_Shift_Ins INS - - AT TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff g.chr8:133981764_133981765insAT ENST00000220616.4 + 32 5965_5966 c.5925_5926insAT c.(5923-5928)ggtatcfs p.I1976fs TG_ENST00000542445.1_Frame_Shift_Ins_p.I346fs|TG_ENST00000519543.1_Frame_Shift_Ins_p.I130fs|TG_ENST00000377869.1_Frame_Shift_Ins_p.I1919fs NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1976 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AACTGATGGGGATATCCATTAG 0.347 38 85 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff g.chr11:12316384_12316389delCTCCTA ENST00000256186.2 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)cca>c p.PPT469del NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 469 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.573 5 7 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 3 5 --- --- --- --- CDC42EP1 11135 broad.mit.edu 37 22 37964409 37964429 + In_Frame_Del DEL CAGCGCCTGCTGCAAACCCCT CAGCGCCTGCTGCAAACCCCT - rs13056859 by1000genomes TCGA-ET-A3BO-01A-11D-A19J-08 TCGA-ET-A3BO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3e8ce68-6e9b-44c5-8cd3-4c39429460fa cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff g.chr22:37964409_37964429delCAGCGCCTGCTGCAAACCCCT ENST00000249014.4 + 3 1178_1198 c.758_778delCAGCGCCTGCTGCAAACCCCT c.(757-780)cca>c p.PAPAANPS253del NM_152243.2 NP_689449.1 Q00587 BORG5_HUMAN CDC42 effector protein (Rho GTPase binding) 1 253 8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG]. positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane protein binding p.N258_A264delNPSAPAA(3) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5) 15 Melanoma(58;0.0574) GCAAACCCCCCAGCGCCTGCTGCAAACCCCTCAGCACCTGC 0.665 9 12 --- --- --- ---