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 DLG1 1739 broad.mit.edu 37 3 196857455 196857455 + Missense_Mutation SNP C C T TCGA-DJ-A2Q5-01A-11D-A18F-08 TCGA-DJ-A2Q5-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3352274-8864-4367-869d-dc6d790e5fda f0edc1f8-7961-4410-b8f5-1bba9fbf379b g.chr3:196857455C>T ENST00000346964.2 - 12 1396 c.1207G>A c.(1207-1209)Gca>Aca p.A403T DLG1_ENST00000452595.1_Missense_Mutation_p.A287T|DLG1_ENST00000450955.1_Missense_Mutation_p.A370T|DLG1_ENST00000448528.2_Missense_Mutation_p.A403T|DLG1_ENST00000443183.1_Missense_Mutation_p.A287T|DLG1_ENST00000422288.1_Missense_Mutation_p.A352T|DLG1_ENST00000419354.1_Missense_Mutation_p.A403T|DLG1_ENST00000392382.2_Missense_Mutation_p.A370T|DLG1_ENST00000357674.4_Missense_Mutation_p.A370T|DLG1_ENST00000314062.3_Missense_Mutation_p.A352T NM_004087.2 NP_004078.2 Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) 403 PDZ 2. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) GTGGGTTTTGCCACTTTCAAA 0.343000 4 55 0 0 0.001168 0 0 CASD1 64921 broad.mit.edu 37 7 94183835 94183835 + Missense_Mutation SNP C C T TCGA-DJ-A2Q5-01A-11D-A18F-08 TCGA-DJ-A2Q5-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3352274-8864-4367-869d-dc6d790e5fda f0edc1f8-7961-4410-b8f5-1bba9fbf379b g.chr7:94183835C>T ENST00000297273.4 + 17 2362 c.2075C>T c.(2074-2076)gCc>gTc p.A692V NM_022900.4 NP_075051.4 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 692 integral to membrane NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 31 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CCTGGATATGCCCGTTCAGTT 0.303000 4 57 0 0 0.000248 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-DJ-A2Q5-01A-11D-A18F-08 TCGA-DJ-A2Q5-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3352274-8864-4367-869d-dc6d790e5fda f0edc1f8-7961-4410-b8f5-1bba9fbf379b g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 4 101 0 0 0.000248 0 0 RPF2 84154 broad.mit.edu 37 6 111346773 111346773 + Silent SNP T T A TCGA-DJ-A2Q5-01A-11D-A18F-08 TCGA-DJ-A2Q5-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3352274-8864-4367-869d-dc6d790e5fda f0edc1f8-7961-4410-b8f5-1bba9fbf379b g.chr6:111346773T>A ENST00000441448.2 + 10 1001 c.909T>A c.(907-909)atT>atA p.I303I NM_032194.1 NP_115570.1 Q9H7B2 RPF2_HUMAN ribosome production factor 2 homolog (S. cerevisiae) 303 nucleolus protein binding p.I303I(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2) 7 CAAAAAGAATTAAAAAAAATT 0.368000 6 22 0 0 0.001984 0 0 GOLGB1 2804 broad.mit.edu 37 3 121413536 121413536 + Missense_Mutation SNP T T C TCGA-DJ-A2Q5-01A-11D-A18F-08 TCGA-DJ-A2Q5-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3352274-8864-4367-869d-dc6d790e5fda f0edc1f8-7961-4410-b8f5-1bba9fbf379b g.chr3:121413536T>C ENST00000393667.3 - 13 5944 c.5834A>G c.(5833-5835)tAc>tGc p.Y1945C GOLGB1_ENST00000340645.5_Missense_Mutation_p.Y1940C NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 1940 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) ATCCTGACAGTAATTCCCAAT 0.363000 3 161 0 0 0.004672 0 0 INHBA 3624 broad.mit.edu 37 7 41739593 41739593 + Missense_Mutation SNP G G A TCGA-DJ-A2Q5-01A-11D-A18F-08 TCGA-DJ-A2Q5-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3352274-8864-4367-869d-dc6d790e5fda f0edc1f8-7961-4410-b8f5-1bba9fbf379b g.chr7:41739593G>A ENST00000242208.4 - 2 626 c.380C>T c.(379-381)gCc>gTc p.A127V INHBA-AS1_ENST00000422822.1_RNA|INHBA-AS1_ENST00000415848.2_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.A127V NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 127 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 ACCTGACTCGGCAAACGTGAT 0.522000 TSP Lung(11;0.080) 5 170 0 0 0.000602 0 0 KRTAP1-1 81851 broad.mit.edu 37 17 39197393 39197393 + Missense_Mutation SNP T T C TCGA-DJ-A2Q5-01A-11D-A18F-08 TCGA-DJ-A2Q5-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3352274-8864-4367-869d-dc6d790e5fda f0edc1f8-7961-4410-b8f5-1bba9fbf379b g.chr17:39197393T>C ENST00000306271.4 - 1 320 c.257A>G c.(256-258)tAc>tGc p.Y86C NM_030967.2 NP_112229.1 Q07627 KRA11_HUMAN keratin associated protein 1-1 86 Missing (in allele KAP1.7). extracellular region|keratin filament p.Y86C(4) NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1) 14 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCTGGTCTGGTAGCAGCTTGG 0.587000 3 85 0 0 0.001168 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A2Q5-01A-11D-A18F-08 TCGA-DJ-A2Q5-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3352274-8864-4367-869d-dc6d790e5fda f0edc1f8-7961-4410-b8f5-1bba9fbf379b 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 8 41 0 0 0.004482 0 0 DHX8 1659 broad.mit.edu 37 17 41582066 41582066 + Missense_Mutation SNP A A G TCGA-DJ-A2Q5-01A-11D-A18F-08 TCGA-DJ-A2Q5-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3352274-8864-4367-869d-dc6d790e5fda f0edc1f8-7961-4410-b8f5-1bba9fbf379b g.chr17:41582066A>G ENST00000262415.3 + 12 1673 c.1601A>G c.(1600-1602)gAt>gGt p.D534G DHX8_ENST00000540306.1_Missense_Mutation_p.D534G NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 534 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) ATGCCCAATGATATTCCTGAG 0.498000 6 202 0 0 0.001168 0 0 CLCN3 0 broad.mit.edu 37 4 170618538 170618538 + Missense_Mutation SNP T T C TCGA-DJ-A2Q5-01A-11D-A18F-08 TCGA-DJ-A2Q5-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3352274-8864-4367-869d-dc6d790e5fda f0edc1f8-7961-4410-b8f5-1bba9fbf379b g.chr4:170618538T>C ENST00000513761.1 + 9 1775 c.1216T>C c.(1216-1218)Ttt>Ctt p.F406L CLCN3_ENST00000504131.2_Missense_Mutation_p.F389L|CLCN3_ENST00000360642.3_Missense_Mutation_p.F379L|CLCN3_ENST00000347613.4_Missense_Mutation_p.F406L NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 406 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) TTGGGGAGCCTTTTTCATTAG 0.438000 3 157 0 0 0.004672 0 0 RP9 6100 broad.mit.edu 37 7 33136131 33136131 + Silent SNP G G A TCGA-DJ-A2Q5-01A-11D-A18F-08 TCGA-DJ-A2Q5-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3352274-8864-4367-869d-dc6d790e5fda f0edc1f8-7961-4410-b8f5-1bba9fbf379b g.chr7:33136131G>A ENST00000297157.3 - 5 458 c.441C>T c.(439-441)gaC>gaT p.D147D NM_203288.1 NP_976033.1 Q8TA86 RP9_HUMAN retinitis pigmentosa 9 (autosomal dominant) 147 PIM1-binding (By similarity). RNA splicing nucleus nucleic acid binding|protein binding|zinc ion binding large_intestine(3)|lung(3)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(11;0.0403) GTCGTTTATTGTCTCGTATGA 0.368000 4 61 0 0 0.000248 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-DJ-A2Q5-01A-11D-A18F-08 TCGA-DJ-A2Q5-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3352274-8864-4367-869d-dc6d790e5fda f0edc1f8-7961-4410-b8f5-1bba9fbf379b g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 3 84 0 0 0.000602 0 0 ITPR2 3709 broad.mit.edu 37 12 26818947 26818947 + Missense_Mutation SNP C C T TCGA-DJ-A2Q5-01A-11D-A18F-08 TCGA-DJ-A2Q5-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3352274-8864-4367-869d-dc6d790e5fda f0edc1f8-7961-4410-b8f5-1bba9fbf379b g.chr12:26818947C>T ENST00000381340.3 - 14 1863 c.1447G>A c.(1447-1449)Gtt>Att p.V483I NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 483 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity p.V483F(1) ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) ACATCAGCAACAAAGAATATG 0.338000 18 47 0 0 0.004990 0 0 SLC5A1 6523 broad.mit.edu 37 22 32482250 32482250 + Silent SNP C C T TCGA-DJ-A2Q5-01A-11D-A18F-08 TCGA-DJ-A2Q5-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3352274-8864-4367-869d-dc6d790e5fda f0edc1f8-7961-4410-b8f5-1bba9fbf379b g.chr22:32482250C>T ENST00000266088.4 + 10 1315 c.1065C>T c.(1063-1065)tgC>tgT p.C355C SLC5A1_ENST00000543737.1_Silent_p.C228C NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 355 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 AGAAATATTGCGGTACCAAGG 0.468000 4 110 0 0 0.000248 0 0 RRN3P1 0 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-DJ-A2Q5-01A-11D-A18F-08 TCGA-DJ-A2Q5-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3352274-8864-4367-869d-dc6d790e5fda f0edc1f8-7961-4410-b8f5-1bba9fbf379b g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 3 19 0 0 0.000248 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117431643 117431643 + Missense_Mutation SNP C C T TCGA-DJ-A2Q5-01A-11D-A18F-08 TCGA-DJ-A2Q5-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3352274-8864-4367-869d-dc6d790e5fda f0edc1f8-7961-4410-b8f5-1bba9fbf379b g.chr7:117431643C>T ENST00000160373.3 - 4 1698 c.1607G>A c.(1606-1608)cGa>cAa p.R536Q NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 536 Pro-rich. breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TCTGTCAACTCGTGCTACACC 0.547000 33 102 0 0 0.002445 0 0 CYP1A2 1544 broad.mit.edu 37 15 75043604 75043604 + Missense_Mutation SNP C C G TCGA-DJ-A2Q5-01A-11D-A18F-08 TCGA-DJ-A2Q5-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3352274-8864-4367-869d-dc6d790e5fda f0edc1f8-7961-4410-b8f5-1bba9fbf379b g.chr15:75043604C>G ENST00000343932.4 + 3 969 c.906C>G c.(904-906)atC>atG p.I302M NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 302 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) GCAACCTCATCCCACAGGAGA 0.562000 3 67 0 0 0.004672 0 0 TRPC7 57113 broad.mit.edu 37 5 135583307 135583307 + Missense_Mutation SNP C C A TCGA-DJ-A2Q5-01A-11D-A18F-08 TCGA-DJ-A2Q5-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3352274-8864-4367-869d-dc6d790e5fda f0edc1f8-7961-4410-b8f5-1bba9fbf379b g.chr5:135583307C>A ENST00000513104.1 - 7 1978 c.1696G>T c.(1696-1698)Ggg>Tgg p.G566W TRPC7_ENST00000426057.2_Missense_Mutation_p.G450W|TRPC7_ENST00000355180.3_Missense_Mutation_p.G505W NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 566 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGCAGGGGCCCAAAACTCTCG 0.488000 5 108 0.00116845 0.0017293 0.001168 1 0 DNM1P47 0 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-DJ-A2Q5-01A-11D-A18F-08 TCGA-DJ-A2Q5-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3352274-8864-4367-869d-dc6d790e5fda f0edc1f8-7961-4410-b8f5-1bba9fbf379b g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 2 4 --- --- --- ---