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 TNFRSF18 8784 broad.mit.edu 37 1 1139318 1139318 + Nonsense_Mutation SNP G G A TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr1:1139318G>A ENST00000328596.6 - 4 420 c.421C>T c.(421-423)Cga>Tga p.R141* TNFRSF18_ENST00000379265.5_Missense_Mutation_p.S204L|TNFRSF18_ENST00000486728.1_Missense_Mutation_p.S139L|TNFRSF18_ENST00000379268.2_Missense_Mutation_p.S211L NM_148901.1 NP_683699.1 Q9Y5U5 TNR18_HUMAN tumor necrosis factor receptor superfamily, member 18 0 anti-apoptosis|apoptosis extracellular region|integral to plasma membrane tumor necrosis factor receptor activity lung(1) 1 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GTCTTCGGTCGACGGCGGCAC 0.697 6 6 --- --- --- --- HMCN1 83872 broad.mit.edu 37 1 185959539 185959539 + Missense_Mutation SNP C C A TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr1:185959539C>A ENST00000271588.4 + 22 3570 c.3341C>A c.(3340-3342)gCc>gAc p.A1114D HMCN1_ENST00000367492.2_Missense_Mutation_p.A1114D|HMCN1_ENST00000485744.1_3'UTR NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1114 Ig-like C2-type 8. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ATTACTTGGGCCAAAGAAACC 0.483 31 50 --- --- --- --- ATP13A5 344905 broad.mit.edu 37 3 193032862 193032862 + Missense_Mutation SNP G G A TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr3:193032862G>A ENST00000342358.4 - 18 2174 c.2057C>T c.(2056-2058)aCa>aTa p.T686I NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 686 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TCCCAGAAATGTTAACTCTGA 0.358 9 180 --- --- --- --- FLNC 2318 broad.mit.edu 37 7 128481581 128481581 + Missense_Mutation SNP C C G TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr7:128481581C>G ENST00000325888.8 + 13 2342 c.2081C>G c.(2080-2082)gCt>gGt p.A694G FLNC_ENST00000346177.6_Missense_Mutation_p.A694G NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 694 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 ACCATTGATGCTCGTGCAGCT 0.602 105 62 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151878020 151878020 + Nonsense_Mutation SNP G G A TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr7:151878020G>A ENST00000355193.2 - 36 7143 c.6925C>T c.(6925-6927)Cag>Tag p.Q2309* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q2309* lysine (K)-specific methyltransferase 2C GAGTCAGACTGAGATCTTGGA 0.507 50 18 --- --- --- --- GALNT12 79695 broad.mit.edu 37 9 101608342 101608342 + Silent SNP T T C TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr9:101608342T>C ENST00000375011.3 + 9 1542 c.1542T>C c.(1540-1542)gaT>gaC p.D514D NM_024642.4 NP_078918.3 Q8IXK2 GLT12_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) 514 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(62;0.0559) CAGGAATGGATACCCTTATCA 0.498 22 38 --- --- --- --- ADAMTS14 140766 broad.mit.edu 37 10 72511348 72511348 + Missense_Mutation SNP A A T TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr10:72511348A>T ENST00000373208.1 + 17 2551 c.2551A>T c.(2551-2553)Acc>Tcc p.T851S ADAMTS14_ENST00000373207.1_Missense_Mutation_p.T848S NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 848 TSP type-1 2. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 GGAGATGGACACCTATGAGTG 0.632 16 23 --- --- --- --- DCHS1 8642 broad.mit.edu 37 11 6643327 6643327 + Missense_Mutation SNP G G A TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr11:6643327G>A ENST00000299441.3 - 21 9991 c.9580C>T c.(9580-9582)Ccc>Tcc p.P3194S RP11-732A19.5_ENST00000526456.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 3194 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P3194S(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGAGCTGGGGGACATGGCCGA 0.622 3 24 --- --- --- --- TCN1 6947 broad.mit.edu 37 11 59620781 59620781 + Missense_Mutation SNP C C T TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr11:59620781C>T ENST00000257264.3 - 8 1239 c.1135G>A c.(1135-1137)Gag>Aag p.E379K NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 379 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CATGAGCGCTCCTCCATTGTG 0.458 32 49 --- --- --- --- DYNC2H1 79659 broad.mit.edu 37 11 103124075 103124075 + Silent SNP C C G TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr11:103124075C>G ENST00000375735.2 + 66 10248 c.10104C>G c.(10102-10104)ctC>ctG p.L3368L DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.L3375L NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3368 AAA 5 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AATTCCGCCTCTTTTTGTCAA 0.373 36 5 --- --- --- --- OR8D2 283160 broad.mit.edu 37 11 124189196 124189196 + Missense_Mutation SNP C C T TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr11:124189196C>T ENST00000357438.2 - 1 988 c.898G>A c.(898-900)Gca>Aca p.A300T NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 300 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TTCTTCAGTGCATTTTTCACA 0.393 37 50 --- --- --- --- PANX3 116337 broad.mit.edu 37 11 124489288 124489288 + Silent SNP G G A TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr11:124489288G>A ENST00000284288.2 + 4 703 c.636G>A c.(634-636)agG>agA p.R212R NM_052959.2 NP_443191.1 Q96QZ0 PANX3_HUMAN pannexin 3 212 protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1) 26 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) ACCTCCTGAGGAACTCCCTCT 0.498 18 16 --- --- --- --- PANX3 116337 broad.mit.edu 37 11 124489568 124489568 + Missense_Mutation SNP G G A TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr11:124489568G>A ENST00000284288.2 + 4 983 c.916G>A c.(916-918)Gag>Aag p.E306K NM_052959.2 NP_443191.1 Q96QZ0 PANX3_HUMAN pannexin 3 306 protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1) 26 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) ATCTGTCTATGAGATGCTCCC 0.443 21 45 --- --- --- --- PANX3 116337 broad.mit.edu 37 11 124489570 124489570 + Silent SNP G G A TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr11:124489570G>A ENST00000284288.2 + 4 985 c.918G>A c.(916-918)gaG>gaA p.E306E NM_052959.2 NP_443191.1 Q96QZ0 PANX3_HUMAN pannexin 3 306 protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1) 26 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) CTGTCTATGAGATGCTCCCAG 0.453 22 46 --- --- --- --- PANX3 116337 broad.mit.edu 37 11 124489586 124489586 + Missense_Mutation SNP G G C TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr11:124489586G>C ENST00000284288.2 + 4 1001 c.934G>C c.(934-936)Gat>Cat p.D312H NM_052959.2 NP_443191.1 Q96QZ0 PANX3_HUMAN pannexin 3 312 protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1) 26 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) CCCAGCTTTTGATCTCCTCAG 0.433 17 47 --- --- --- --- PANX3 116337 broad.mit.edu 37 11 124489636 124489636 + Silent SNP G G C TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr11:124489636G>C ENST00000284288.2 + 4 1051 c.984G>C c.(982-984)gtG>gtC p.V328V NM_052959.2 NP_443191.1 Q96QZ0 PANX3_HUMAN pannexin 3 328 protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1) 26 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) ACCTCAATGTGATCCTTCTTT 0.453 31 40 --- --- --- --- KL 9365 broad.mit.edu 37 13 33628320 33628320 + Silent SNP T T A TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr13:33628320T>A ENST00000380099.3 + 2 1244 c.1236T>A c.(1234-1236)atT>atA p.I412I KL_ENST00000426690.2_Silent_p.I105I|KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 412 Glycosyl hydrolase-1 1. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) AAATATTTATTGTGGAAAATG 0.403 7 73 --- --- --- --- LCP1 3936 broad.mit.edu 37 13 46701744 46701744 + Silent SNP T T C TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr13:46701744T>C ENST00000398576.2 - 19 2254 c.1866A>G c.(1864-1866)aaA>aaG p.K622K LCP1_ENST00000323076.2_Silent_p.K622K|LCP1_ENST00000435666.2_Silent_p.K191K P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 622 Actin-binding 2.|CH 4. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) TCTTCATTCCTTTCCCCATGA 0.562 T BCL6 NHL 4 45 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38061312 38061312 + Missense_Mutation SNP T T C TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr14:38061312T>C ENST00000250448.2 - 2 738 c.677A>G c.(676-678)gAc>gGc p.D226G FOXA1_ENST00000540786.1_Missense_Mutation_p.D193G|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 226 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) GACGAAGCAGTCATTGAAGGA 0.607 11 12 --- --- --- --- TMC7 79905 broad.mit.edu 37 16 19020721 19020721 + Nonsense_Mutation SNP G G T TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr16:19020721G>T ENST00000304381.5 + 2 425 c.295G>T c.(295-297)Gag>Tag p.E99* TMC7_ENST00000569532.1_Nonsense_Mutation_p.E99*|TMC7_ENST00000421369.3_5'UTR NM_024847.3 NP_079123.3 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 99 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 GAACATCTCTGAGAAGCGGAG 0.468 4 152 --- --- --- --- CMIP 80790 broad.mit.edu 37 16 81735396 81735396 + Silent SNP G G A TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr16:81735396G>A ENST00000537098.3 + 16 1959 c.1887G>A c.(1885-1887)ctG>ctA p.L629L CMIP_ENST00000539778.2_Silent_p.L535L|CMIP_ENST00000398040.4_Silent_p.L476L|CMIP_ENST00000566513.1_3'UTR NM_198390.2 NP_938204.2 Q8IY22 CMIP_HUMAN c-Maf inducing protein 595 cytoplasm|nucleus endometrium(5)|kidney(1)|lung(7) 13 AGCGGGAGCTGAAGGAGCTGG 0.652 4 56 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696433 47696433 + Missense_Mutation SNP G G C TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr17:47696433G>C ENST00000393331.3 - 7 860 c.390C>G c.(388-390)gaC>gaG p.D130E SPOP_ENST00000393328.2_Missense_Mutation_p.D130E|SPOP_ENST00000504102.1_Missense_Mutation_p.D130E|SPOP_ENST00000347630.2_Missense_Mutation_p.D130E|SPOP_ENST00000503676.1_Missense_Mutation_p.D130E NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 130 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TGAATCCCCAGTCTTTGCCTT 0.453 Prostate(2;0.17) 47 70 --- --- --- --- SMCHD1 23347 broad.mit.edu 37 18 2770030 2770030 + Missense_Mutation SNP G G T TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr18:2770030G>T ENST00000320876.6 + 39 5228 c.4890G>T c.(4888-4890)aaG>aaT p.K1630N RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.K1630N NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 1630 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 CAAAAGAAAAGGACCAATTAT 0.269 17 34 --- --- --- --- BIRC7 79444 broad.mit.edu 37 20 61870925 61870925 + Missense_Mutation SNP G G A TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr20:61870925G>A ENST00000217169.3 + 6 1079 c.865G>A c.(865-867)Gtc>Atc p.V289I BIRC7_ENST00000342412.6_Missense_Mutation_p.V271I|BIRC7_ENST00000395306.1_Missense_Mutation_p.V184I NM_139317.1 NP_647478.1 Q96CA5 BIRC7_HUMAN baculoviral IAP repeat containing 7 289 activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding p.V289I(1) endometrium(1)|kidney(1)|lung(9)|ovary(1) 12 all_cancers(38;2.72e-09) CAGAGCCCCCGTCCGCAGCCG 0.726 21 11 --- --- --- --- TBX1 6899 broad.mit.edu 37 22 19754359 19754359 + Missense_Mutation SNP C C G TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr22:19754359C>G ENST00000332710.4 + 9 1586 c.1457C>G c.(1456-1458)cCg>cGg p.P486R TBX1_ENST00000359500.3_Intron|TBX1_ENST00000329705.7_Intron NM_080647.1 NP_542378.1 O43435 TBX1_HUMAN T-box 1 99 embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development nucleus protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|lung(3)|ovary(2) 8 Colorectal(54;0.0993) all_lung(157;3.05e-06) GGAGCCGCGCCGCCCGGCTCC 0.761 4 8 --- --- --- --- TYW3 127253 broad.mit.edu 37 1 75229587 75229589 + In_Frame_Del DEL CTG CTG - TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr1:75229587_75229589delCTG ENST00000370867.3 + 6 659_661 c.570_572delCTG c.(568-573)aactgc>aac p.C191del TYW3_ENST00000467646.1_3'UTR|TYW3_ENST00000479111.1_In_Frame_Del_p.C71del|TYW3_ENST00000457880.2_In_Frame_Del_p.C158del|TYW3_ENST00000421739.2_In_Frame_Del_p.C107del NM_138467.2 NP_612476.1 Q6IPR3 TYW3_HUMAN tRNA-yW synthesizing protein 3 homolog (S. cerevisiae) 191 tRNA processing methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1) 15 GGTTTTACAACTGCCTACAGCAT 0.320 24 36 --- --- --- --- KERA 11081 broad.mit.edu 37 12 91449367 91449367 + Frame_Shift_Del DEL T T - TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr12:91449367delT ENST00000266719.3 - 2 939 c.692delA c.(691-693)aatfs p.N231fs NM_007035.3 NP_008966.1 O60938 KERA_HUMAN keratocan 231 response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 ATTAAAATAATTTTCTGGTAT 0.373 7 108 --- --- --- --- TFAP2C 7022 broad.mit.edu 37 20 55208584 55208594 + Frame_Shift_Del DEL TGAATGCTTAA TGAATGCTTAA - TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0af96576-f308-4fec-bda0-f431f6531409 727485ca-631f-41a3-8f98-7450503b45f0 g.chr20:55208584_55208594delTGAATGCTTAA ENST00000201031.2 + 4 1005_1015 c.762_772delTGAATGCTTAA c.(760-774)cctgaatgcttaaatfs p.ECLN255fs TFAP2C_ENST00000544508.1_Frame_Shift_Del_p.ECLN86fs NM_003222.3 NP_003213.1 Q92754 AP2C_HUMAN transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) 255 cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Colorectal(105;0.229) TGTCCCCACCTGAATGCTTAAATGCCTCGTT 0.512 12 62 --- --- --- ---