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 GRIA3 2892 broad.mit.edu 37 X 122616871 122616871 + Silent SNP T T C TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 g.chrX:122616871T>C ENST00000264357.5 + 15 2953 c.2661T>C c.(2659-2661)taT>taC p.Y887Y GRIA3_ENST00000371251.1_Silent_p.Y887Y|GRIA3_ENST00000371256.5_Silent_p.Y887Y|GRIA3_ENST00000542149.1_3'UTR NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 887 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) ACAACGTGTATGGAACAGAGA 0.383000 10 120 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72831869 72831869 + Missense_Mutation SNP T T C TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 g.chr16:72831869T>C ENST00000268489.5 - 9 5384 c.4712A>G c.(4711-4713)cAt>cGt p.H1571R ZFHX3_ENST00000397992.5_Missense_Mutation_p.H657R NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1571 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CTTTAACTTATGCAGGTGGGA 0.463000 48 53 0 0 1 0 0 MT-ND1 4535 broad.mit.edu 37 MT 3380 3380 + Missense_Mutation SNP G G A TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 g.chrM:3380G>A ENST00000361390.2 + 1 74 c.74G>A c.(73-75)cGa>cAa p.25_25insQ mitochondrially encoded NADH dehydrogenase 1 breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1) 34 GCTTACCGAACGAAAAATTCT 0.463000 564 7 0 0 1 0 0 PRDM15 63977 broad.mit.edu 37 21 43243760 43243760 + Missense_Mutation SNP C C T TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 g.chr21:43243760C>T ENST00000422911.1 - 15 1947 c.1846G>A c.(1846-1848)Ggc>Agc p.G616S PRDM15_ENST00000538201.1_Missense_Mutation_p.G579S|PRDM15_ENST00000269844.3_Missense_Mutation_p.G925S|PRDM15_ENST00000398548.1_Missense_Mutation_p.G596S|PRDM15_ENST00000447207.2_Missense_Mutation_p.G559S P57071 PRD15_HUMAN PR domain containing 15 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 TTCTTGTCGCCGTGGGTGAGC 0.607000 2 0 0 0 1 0 0 OR2T33 391195 broad.mit.edu 37 1 248437065 248437065 + Missense_Mutation SNP G G T TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 g.chr1:248437065G>T ENST00000318021.2 - 1 73 c.52C>A c.(52-54)Cac>Aac p.H18N NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GCTCTGGTGTGGTTAAAGAGT 0.448000 14 100 2.89027e-11 3.17929e-11 1 1 0 UBE2O 63893 broad.mit.edu 37 17 74395058 74395058 + Missense_Mutation SNP A A C TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 g.chr17:74395058A>C ENST00000319380.7 - 10 1707 c.1643T>G c.(1642-1644)gTg>gGg p.V548G UBE2O_ENST00000587581.1_5'UTR NM_022066.3 NP_071349.3 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 548 ATP binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 CGTGGTCACCACCTCCACTGC 0.627000 7 26 0 0 1 0 0 FOXP3 50943 broad.mit.edu 37 X 49110404 49110404 + Missense_Mutation SNP C C A TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 g.chrX:49110404C>A ENST00000376207.4 - 9 1128 c.941G>T c.(940-942)gGt>gTt p.G314V FOXP3_ENST00000557224.1_Missense_Mutation_p.G279V|FOXP3_ENST00000376199.2_Missense_Mutation_p.G279V|FOXP3_ENST00000376197.1_Missense_Mutation_p.G264V|FOXP3_ENST00000455775.2_Missense_Mutation_p.G287V|FOXP3_ENST00000518685.1_Missense_Mutation_p.G279V NM_014009.3 NP_054728.2 Q9BZS1 FOXP3_HUMAN forkhead box P3 314 B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen cytoplasm|nucleus|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1) 10 Ovarian(276;0.236) TCCATGGCTACCCCACAGGTG 0.622000 3 25 0.004672 0.004672 1 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 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 41 44 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 3 56 0 0 1 0 0 FAM78A 286336 broad.mit.edu 37 9 134136508 134136508 + Missense_Mutation SNP G G A TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 g.chr9:134136508G>A ENST00000372271.3 - 2 920 c.553C>T c.(553-555)Cgg>Tgg p.R185W FAM78A_ENST00000372269.3_Missense_Mutation_p.R182W|FAM78A_ENST00000247295.4_5'UTR NM_033387.3 NP_203745.2 Q5JUQ0 FA78A_HUMAN family with sequence similarity 78, member A 185 p.R185W(1) NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267) CTCTGGTCCCGGTAGATATTG 0.572000 39 46 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46125035 46125035 + Silent SNP A A G TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 g.chr12:46125035A>G ENST00000334344.6 + 3 394 c.222A>G c.(220-222)gaA>gaG p.E74E ARID2_ENST00000422737.1_5'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 74 ARID. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AAATTGTTGAAGAGTTCAACT 0.373000 """N, S, F""" hepatocellular carcinoma 4 102 0 0 1 0 0 ZP1 22917 broad.mit.edu 37 11 60636685 60636685 + Silent SNP G G A TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 g.chr11:60636685G>A ENST00000278853.5 + 2 264 c.264G>A c.(262-264)ccG>ccA p.P88P NM_207341.2 NP_997224.2 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 (sperm receptor) 88 single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 CCTCCAGGCCGCAGGAGCCTG 0.582000 3 22 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 4 57 0 0 1 0 0 RP11-81N13.1 0 broad.mit.edu 37 3 67767628 67767629 + RNA INS - - TG rs55737421 TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 g.chr3:67767628_67767629insTG ENST00000482677.1 + 0 615 TAGAGAAAGCTtgtgtgtgtgt 0.455 2 4 --- --- --- --- RP11-1252I4.2 0 broad.mit.edu 37 5 177407456 177407457 + RNA INS - - AC TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 g.chr5:177407456_177407457insAC ENST00000511650.1 + 0 145 gtgtgtgtgtgacacagagcgc 0.550 2 4 --- --- --- --- RP11-764K9.1 0 broad.mit.edu 37 9 68401825 68401827 + RNA DEL TTG TTG - TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 g.chr9:68401825_68401827delTTG ENST00000417843.2 - 0 224 ctggaggccattgttgtaagtga 0.350 2 4 --- --- --- --- GBF1 8729 broad.mit.edu 37 10 104125331 104125332 + Frame_Shift_Ins INS - - T rs141624228 TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 g.chr10:104125331_104125332insT ENST00000369983.3 + 18 2541_2542 c.2281_2282insT c.(2281-2283)tgafs p.*761fs NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 761 SEC7. COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CCGCAAAAACATTGACCTGTTG 0.505 60 64 --- --- --- --- ABCA17P 0 broad.mit.edu 37 16 2475097 2475098 + RNA DEL TC TC - TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 g.chr16:2475097_2475098delTC ENST00000469908.1 + 0 3047 NR_003574.1 GGTAActctgtctctctctctc 0.559 2 4 --- --- --- ---