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 PARK7 11315 broad.mit.edu 37 1 8025453 8025453 + Missense_Mutation SNP C C G TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr1:8025453C>G ENST00000493678.1 + 3 227 c.160C>G c.(160-162)Cct>Gct p.P54A PARK7_ENST00000377491.1_Missense_Mutation_p.P54A|PARK7_ENST00000377493.5_Missense_Mutation_p.P54A|PARK7_ENST00000338639.5_Missense_Mutation_p.P54A|PARK7_ENST00000377488.1_Missense_Mutation_p.P54A|PARK7_ENST00000497113.1_3'UTR Q99497 PARK7_HUMAN parkinson protein 7 54 autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization mitochondrion|nucleus mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity large_intestine(1) 1 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649) GGTCATTTGTCCTGATGCCAG 0.408 15 48 --- --- --- --- F5 2153 broad.mit.edu 37 1 169489881 169489881 + Missense_Mutation SNP C C T TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr1:169489881C>T ENST00000367796.3 - 22 6286 c.6085G>A c.(6085-6087)Gcc>Acc p.A2029T F5_ENST00000367797.3_Missense_Mutation_p.A2024T P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 2024 F5/8 type C 1. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) ATTGTAGAGGCATCTGAATTG 0.323 9 47 --- --- --- --- ZNF512 84450 broad.mit.edu 37 2 27822524 27822524 + Nonsense_Mutation SNP C C T TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr2:27822524C>T ENST00000355467.4 + 4 435 c.352C>T c.(352-354)Cag>Tag p.Q118* RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_Nonsense_Mutation_p.Q41*|ZNF512_ENST00000416005.2_Nonsense_Mutation_p.Q117*|ZNF512_ENST00000556601.1_Silent_p.L28L|ZNF512_ENST00000494548.1_3'UTR|ZNF512_ENST00000379717.1_Nonsense_Mutation_p.Q117* NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3 NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2 Q96ME7 ZN512_HUMAN zinc finger protein 512 118 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155) AGAATTTCCTCAGAAGAAGCA 0.418 10 47 --- --- --- --- BIRC6 57448 broad.mit.edu 37 2 32712725 32712725 + Missense_Mutation SNP C C A TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr2:32712725C>A ENST00000421745.2 + 41 7959 c.7825C>A c.(7825-7827)Ccc>Acc p.P2609T NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 2609 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) ATCACAGTCTCCCACTGGAAC 0.328 25 85 --- --- --- --- ATIC 471 broad.mit.edu 37 2 216211488 216211488 + Missense_Mutation SNP G G A TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr2:216211488G>A ENST00000435675.1 + 13 1715 c.1324G>A c.(1324-1326)Ggc>Agc p.G442S ATIC_ENST00000236959.9_Missense_Mutation_p.G443S|ATIC_ENST00000540518.1_Missense_Mutation_p.G384S P31939 PUR9_HUMAN 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 443 IMP biosynthetic process|purine base metabolic process cytosol IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity ATIC/ALK(24) large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 8 Renal(323;0.229) Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097) Tetrahydrofolic acid(DB00116) TCAGGTTATCGGCATTGGAGC 0.433 T ALK ALCL 36 139 --- --- --- --- ARL4C 10123 broad.mit.edu 37 2 235405080 235405080 + Nonsense_Mutation SNP T T A TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr2:235405080T>A ENST00000390645.2 - 1 617 c.151A>T c.(151-153)Aag>Tag p.K51* ARL4C_ENST00000339728.3_Nonsense_Mutation_p.K51* NM_005737.3 NP_005728.2 P56559 ARL4C_HUMAN ADP-ribosylation factor-like 4C 51 endocytic recycling|small GTPase mediated signal transduction cytoplasm|filopodium|nucleus|plasma membrane alpha-tubulin binding|GTP binding|GTPase activity endometrium(1)|ovary(1)|skin(1)|urinary_tract(1) 4 Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173) Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048) AGCTTGATCTTCTCGGTGTTG 0.622 14 55 --- --- --- --- OPA1 4976 broad.mit.edu 37 3 193380716 193380716 + Missense_Mutation SNP C C G TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr3:193380716C>G ENST00000361510.2 + 26 2860 c.2626C>G c.(2626-2628)Ctt>Gtt p.L876V OPA1_ENST00000361828.2_Missense_Mutation_p.L839V|OPA1_ENST00000392438.3_Missense_Mutation_p.L821V|OPA1_ENST00000361908.3_Missense_Mutation_p.L858V|OPA1_ENST00000361715.2_Missense_Mutation_p.L840V|OPA1_ENST00000361150.2_Missense_Mutation_p.L822V NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 821 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) CCGGAAGAACCTTGAATCCCG 0.388 17 59 --- --- --- --- SLAIN2 57606 broad.mit.edu 37 4 48371866 48371866 + Splice_Site SNP G G T TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr4:48371866G>T ENST00000264313.6 + 2 808 c.390G>T c.(388-390)tgG>tgT p.W130C SLAIN2_ENST00000506375.1_3'UTR NM_020846.1 NP_065897.1 Q9P270 SLAI2_HUMAN SLAIN motif family, member 2 130 centrosome breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1) 13 CTTCTTCTAGGCTGTATTCAT 0.373 15 57 --- --- --- --- TIGD2 166815 broad.mit.edu 37 4 90034422 90034422 + Silent SNP A A G TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr4:90034422A>G ENST00000317005.2 + 1 455 c.297A>G c.(295-297)ggA>ggG p.G99G NM_145715.2 NP_663761.1 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 99 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 14 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.86e-05) CAGTGTCCGGAACGATTTGTG 0.418 11 118 --- --- --- --- SMARCA5 8467 broad.mit.edu 37 4 144466687 144466687 + Missense_Mutation SNP A A T TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr4:144466687A>T ENST00000283131.3 + 18 2810 c.2348A>T c.(2347-2349)gAa>gTa p.E783V NM_003601.3 NP_003592.3 O60264 SMCA5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 783 CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) CGTTTATTTGAATTACTGGAA 0.328 15 59 --- --- --- --- FBN2 2201 broad.mit.edu 37 5 127710364 127710364 + Silent SNP A A G TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr5:127710364A>G ENST00000508053.1 - 21 3026 c.2052T>C c.(2050-2052)tgT>tgC p.C684C FBN2_ENST00000508989.1_Silent_p.C651C|FBN2_ENST00000262464.4_Silent_p.C684C|FBN2_ENST00000511489.1_5'UTR P35556 FBN2_HUMAN fibrillin 2 684 EGF-like 10; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GGCCTGGGGGACAGTCACAGC 0.502 24 68 --- --- --- --- SLC26A8 116369 broad.mit.edu 37 6 35927511 35927511 + Missense_Mutation SNP T T C TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr6:35927511T>C ENST00000490799.1 - 15 2064 c.1711A>G c.(1711-1713)Aag>Gag p.K571E SLC26A8_ENST00000394602.2_Missense_Mutation_p.K466E|SLC26A8_ENST00000355574.2_Missense_Mutation_p.K571E NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 571 STAS. cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 AGCTTATGCTTTAGGTAGTAA 0.473 22 100 --- --- --- --- AUTS2 26053 broad.mit.edu 37 7 70252229 70252229 + Silent SNP C C A TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr7:70252229C>A ENST00000342771.4 + 18 2664 c.2343C>A c.(2341-2343)ccC>ccA p.P781P AUTS2_ENST00000406775.2_Silent_p.P757P NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 781 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) AGGATGGCCCCAGTGTGCAGA 0.532 13 37 --- --- --- --- RELN 5649 broad.mit.edu 37 7 103180802 103180802 + Missense_Mutation SNP A A G TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr7:103180802A>G ENST00000424685.2 - 44 6931 c.6772T>C c.(6772-6774)Tgg>Cgg p.W2258R RELN_ENST00000428762.1_Missense_Mutation_p.W2258R|RELN_ENST00000343529.5_Missense_Mutation_p.W2258R P78509 RELN_HUMAN reelin 2258 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AGAAGACTCCACGAGAGGCCA 0.517 21 102 --- --- --- --- CDHR3 222256 broad.mit.edu 37 7 105660967 105660967 + Missense_Mutation SNP C C T TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr7:105660967C>T ENST00000542731.1 + 13 1910 c.1802C>T c.(1801-1803)tCt>tTt p.S601F CDHR3_ENST00000478080.1_Missense_Mutation_p.S513F|CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000317716.9_Missense_Mutation_p.S601F|CDHR3_ENST00000470188.1_Intron Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 601 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 AGCCCCAGATCTTTCCGTTAT 0.493 19 61 --- --- --- --- TSPAN12 23554 broad.mit.edu 37 7 120455842 120455842 + Missense_Mutation SNP G G A TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr7:120455842G>A ENST00000222747.3 - 5 908 c.301C>T c.(301-303)Ctt>Ttt p.L101F TSPAN12_ENST00000415871.1_Missense_Mutation_p.L101F NM_012338.3 NP_036470.1 O95859 TSN12_HUMAN tetraspanin 12 101 L -> H (in EVR5). angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1) 10 all_neural(327;0.117) AAAATGACAAGCAAACTTCCA 0.343 4 34 --- --- --- --- HIPK2 28996 broad.mit.edu 37 7 139285234 139285234 + Silent SNP G G A TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr7:139285234G>A ENST00000406875.3 - 11 2458 c.2364C>T c.(2362-2364)gcC>gcT p.A788A HIPK2_ENST00000428878.2_Silent_p.A761A|HIPK2_ENST00000342645.6_Silent_p.A788A NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 788 Interaction with CTBP1 (By similarity).|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) GCATCACGTGGGCCACACCCA 0.567 14 56 --- --- --- --- DIP2C 22982 broad.mit.edu 37 10 408505 408505 + Silent SNP G G A TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr10:408505G>A ENST00000280886.6 - 22 2806 c.2719C>T c.(2719-2721)Ctg>Ttg p.L907L DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Silent_p.L228L NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 907 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CAGGGGTGCAGAGAGCCCTCC 0.537 11 48 --- --- --- --- KNDC1 85442 broad.mit.edu 37 10 135015083 135015083 + Missense_Mutation SNP A A G TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr10:135015083A>G ENST00000304613.3 + 17 3089 c.3068A>G c.(3067-3069)gAc>gGc p.D1023G KNDC1_ENST00000368572.2_Missense_Mutation_p.D1025G|KNDC1_ENST00000368571.2_Missense_Mutation_p.D958G Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1023 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GTGGACTCGGACGCACTGTCA 0.622 16 74 --- --- --- --- KRT6C 286887 broad.mit.edu 37 12 52863587 52863587 + Missense_Mutation SNP C C T TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr12:52863587C>T ENST00000252250.6 - 7 1338 c.1291G>A c.(1291-1293)Gag>Aag p.E431K NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 431 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) AGGGCATCCTCCAGCCCTTCC 0.597 18 66 --- --- --- --- RYR3 6263 broad.mit.edu 37 15 34137219 34137219 + Missense_Mutation SNP A A G TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr15:34137219A>G ENST00000389232.4 + 93 13523 c.13453A>G c.(13453-13455)Acc>Gcc p.T4485A RYR3_ENST00000415757.3_Missense_Mutation_p.T4480A NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 4485 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CATCATCCATACCATCATCTC 0.498 13 66 --- --- --- --- BBS4 585 broad.mit.edu 37 15 73029880 73029880 + Silent SNP G G A TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr15:73029880G>A ENST00000268057.4 + 16 1553 c.1512G>A c.(1510-1512)gcG>gcA p.A504A BBS4_ENST00000539603.1_Silent_p.A492A|BBS4_ENST00000542334.1_Silent_p.A332A|BBS4_ENST00000395205.2_Silent_p.A512A NM_033028.4 NP_149017.2 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 504 Required for localization to centrosomes. adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1) 19 CAGAGCCTGCGGTGGAATCAA 0.443 Bardet-Biedl syndrome 5 15 --- --- --- --- ITFG3 83986 broad.mit.edu 37 16 314964 314964 + Silent SNP C C T TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr16:314964C>T ENST00000399932.3 + 13 2053 c.1602C>T c.(1600-1602)gaC>gaT p.D534D ITFG3_ENST00000301678.3_Silent_p.D534D|ITFG3_ENST00000442458.2_Intron|ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000301679.2_Intron|ITFG3_ENST00000450082.2_Intron NM_001284497.1 NP_001271426.1 Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 534 integral to membrane central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) GTGGGCCAGACAGTGACCAAG 0.652 14 61 --- --- --- --- C16orf82 162083 broad.mit.edu 37 16 27078584 27078584 + RNA SNP G G A TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr16:27078584G>A ENST00000505035.1 + 0 557 RP11-673P17.2_ENST00000565783.1_RNA Q7Z2V1 TNT_HUMAN CCTGAGCAGCGGGTACGCAGG 0.642 14 15 --- --- --- --- BRD1 23774 broad.mit.edu 37 22 50217248 50217248 + Missense_Mutation SNP C C T TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr22:50217248C>T ENST00000216267.8 - 1 1204 c.718G>A c.(718-720)Gcc>Acc p.A240T BRD1_ENST00000404760.1_Missense_Mutation_p.A240T|BRD1_ENST00000404034.1_Missense_Mutation_p.A240T|BRD1_ENST00000457780.2_Missense_Mutation_p.A240T NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 240 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) TGGTGCACGGCCAGGTTGCAC 0.657 9 22 --- --- --- --- GPR119 139760 broad.mit.edu 37 X 129518743 129518743 + Missense_Mutation SNP C C G TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chrX:129518743C>G ENST00000276218.2 - 1 768 c.679G>C c.(679-681)Gtg>Ctg p.V227L NM_178471.2 NP_848566.1 Q8TDV5 GP119_HUMAN G protein-coupled receptor 119 227 integral to membrane|plasma membrane lipid binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1) 11 AGAACAGACACAGTACGGAGA 0.547 27 20 --- --- --- --- A1CF 29974 broad.mit.edu 37 10 52603796 52603796 + Frame_Shift_Del DEL T T - TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr10:52603796delT ENST00000374001.2 - 3 325 c.186delA c.(184-186)aaafs p.K62fs A1CF_ENST00000395495.1_Frame_Shift_Del_p.K62fs|A1CF_ENST00000282641.2_Frame_Shift_Del_p.K62fs|A1CF_ENST00000395489.2_Frame_Shift_Del_p.K55fs|A1CF_ENST00000373997.3_Frame_Shift_Del_p.K62fs|A1CF_ENST00000373993.1_Frame_Shift_Del_p.K62fs|A1CF_ENST00000373995.3_Frame_Shift_Del_p.K70fs Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor RRM 1. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 CTCGGGGAAGTTTTCCAATAA 0.403 36 82 --- --- --- --- ARID2 196528 broad.mit.edu 37 12 46245168 46245168 + Frame_Shift_Del DEL A A - TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr12:46245168delA ENST00000334344.6 + 15 3434 c.3262delA c.(3262-3264)aatfs p.N1089fs ARID2_ENST00000422737.1_Frame_Shift_Del_p.N940fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Frame_Shift_Del_p.N699fs NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1089 Gln-rich. 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) TCCTCCCCCTAATAATGCAAG 0.522 """N, S, F""" hepatocellular carcinoma 30 111 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38061220 38061228 + In_Frame_Del DEL CGTTCTCGA CGTTCTCGA - TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr14:38061220_38061228delCGTTCTCGA ENST00000250448.2 - 2 822_830 c.761_769delTCGAGAACG c.(760-771)ttcgagaacggc>tgc p.254_257FENG>C FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.221_224FENG>C NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 254 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) AAGTAGCAGCCGTTCTCGAACATGTTGCC 0.694 7 18 --- --- --- --- ABCA9 10350 broad.mit.edu 37 17 67016632 67016632 + Frame_Shift_Del DEL T T - TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr17:67016632delT ENST00000340001.4 - 19 2708 c.2497delA c.(2497-2499)aggfs p.R833fs ABCA9_ENST00000453985.2_Frame_Shift_Del_p.R833fs|ABCA9_ENST00000370732.2_Frame_Shift_Del_p.R833fs NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 833 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) ATTGTTTTCCTTGTTTCGTGG 0.428 35 117 --- --- --- ---