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 C1orf85 112770 broad.mit.edu 37 1 156263002 156263002 + Splice_Site SNP T T C TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr1:156263002T>C ENST00000362007.1 - 6 1082 c.e6-2 C1orf85_ENST00000482579.1_Splice_Site NM_001256604.1|NM_001256609.1|NM_144580.2 NP_001243533.1|NP_001243538.1|NP_653181.1 Q8WWB7 NCUG1_HUMAN chromosome 1 open reading frame 85 positive regulation of transcription from RNA polymerase II promoter cytosol|integral to membrane|lysosomal membrane|nucleus ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.?(1) breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3) 14 Hepatocellular(266;0.158) AGCATCGACCTAGAGCAAGCA 0.622 3 121 --- --- --- --- CD48 962 broad.mit.edu 37 1 160654892 160654892 + Missense_Mutation SNP G G T TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr1:160654892G>T ENST00000368045.3 - 2 209 c.170C>A c.(169-171)aCc>aAc p.T57N CD48_ENST00000368046.3_Missense_Mutation_p.T57N P09326 CD48_HUMAN CD48 molecule 57 Ig-like C2-type 1. blood coagulation|defense response|leukocyte migration integral to plasma membrane|membrane raft protein binding p.T57N(1) breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1) 10 all_cancers(52;2.18e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) ATAAAACCAGGTTAGTTGTTT 0.438 4 112 --- --- --- --- DHX9 1660 broad.mit.edu 37 1 182812496 182812496 + Missense_Mutation SNP A A G TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr1:182812496A>G ENST00000367549.3 + 3 289 c.179A>G c.(178-180)aAt>aGt p.N60S NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 60 DRBM 1.|Interaction with CREBBP. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding p.N60S(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 GCACAAAGCAATGCTGCCAGA 0.363 3 135 --- --- --- --- C1orf101 257044 broad.mit.edu 37 1 244716060 244716060 + Missense_Mutation SNP G G A TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr1:244716060G>A ENST00000366534.4 + 9 1027 c.973G>A c.(973-975)Ggt>Agt p.G325S C1orf101_ENST00000366533.4_Missense_Mutation_p.G325S|C1orf101_ENST00000366531.3_Missense_Mutation_p.G174S|C1orf101_ENST00000473875.1_Intron NM_001130957.1 NP_001124429.1 Q5SY80 CA101_HUMAN chromosome 1 open reading frame 101 325 integral to membrane p.G325S(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 36 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) TCTTCCTGATGGTGGAATTAC 0.284 4 155 --- --- --- --- CNGA3 1261 broad.mit.edu 37 2 99012981 99012981 + Missense_Mutation SNP A A G TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr2:99012981A>G ENST00000393504.1 + 8 1765 c.1348A>G c.(1348-1350)Acg>Gcg p.T450A CNGA3_ENST00000436404.2_Missense_Mutation_p.T432A|CNGA3_ENST00000409937.1_Missense_Mutation_p.T454A|CNGA3_ENST00000272602.2_Missense_Mutation_p.T450A NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 450 signal transduction|visual perception integral to membrane cGMP binding p.T450A(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 CAACAAGAAGACGGTGGATGA 0.537 17 37 --- --- --- --- C1QL2 165257 broad.mit.edu 37 2 119915187 119915187 + Missense_Mutation SNP C C G TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr2:119915187C>G ENST00000272520.3 - 1 1278 c.659G>C c.(658-660)tGg>tCg p.W220S NM_182528.3 NP_872334.2 Q7Z5L3 C1QL2_HUMAN complement component 1, q subcomponent-like 2 220 C1q. collagen p.W220S(1) NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1) 7 GAGGTCCGCCCACATGCTGGT 0.647 HNSCC(49;0.14) 6 37 --- --- --- --- ERCC3 2071 broad.mit.edu 37 2 128050211 128050211 + Missense_Mutation SNP G G A TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr2:128050211G>A ENST00000493187.2 - 3 717 c.254C>T c.(253-255)cCt>cTt p.P85L ERCC3_ENST00000285398.2_Missense_Mutation_p.P149L P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 149 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding p.P149L(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) AATTCCATCAGGGACTCCAGT 0.483 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 5 117 --- --- --- --- FAM171B 165215 broad.mit.edu 37 2 187627272 187627272 + Missense_Mutation SNP A A T TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr2:187627272A>T ENST00000304698.5 + 8 2406 c.2203A>T c.(2203-2205)Atc>Ttc p.I735F NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 735 integral to membrane DNA binding p.I735F(1) NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 TCAGCCCAAGATCCTTTACTT 0.488 25 63 --- --- --- --- COL3A1 1281 broad.mit.edu 37 2 189875581 189875581 + Nonsense_Mutation SNP A A T TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr2:189875581A>T ENST00000304636.3 + 50 4389 c.4219A>T c.(4219-4221)Aaa>Taa p.K1407* COL3A1_ENST00000317840.5_Nonsense_Mutation_p.K1104* NM_000090.3 NP_000081 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1407 Fibrillar collagen NC1. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding p.K1407*(1) NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AGGAAATAGCAAATTCACCTA 0.398 5 115 --- --- --- --- SPAG16 79582 broad.mit.edu 37 2 214878685 214878685 + Missense_Mutation SNP A A G TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr2:214878685A>G ENST00000331683.5 + 13 1506 c.1411A>G c.(1411-1413)Aga>Gga p.R471G SPAG16_ENST00000374309.3_Missense_Mutation_p.R377G NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 471 cilium assembly cilium axoneme|flagellar axoneme p.R471G(2) endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) TGAAAGATGCAGATGTACTTT 0.343 4 245 --- --- --- --- GABRG1 2565 broad.mit.edu 37 4 46067560 46067560 + Missense_Mutation SNP G G T TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr4:46067560G>T ENST00000295452.4 - 4 530 c.363C>A c.(361-363)gaC>gaA p.D121E NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 121 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.D121E(1)|p.D121D(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TTAAACGACTGTCAAACCAGG 0.294 14 62 --- --- --- --- ANKRD17 26057 broad.mit.edu 37 4 74005375 74005375 + Silent SNP T T G TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr4:74005375T>G ENST00000358602.4 - 15 3074 c.2958A>C c.(2956-2958)ggA>ggC p.G986G ANKRD17_ENST00000509867.2_Silent_p.G873G|ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000514252.1_5'UTR NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 986 Gln-rich. interspecies interaction between organisms cytoplasm|nucleus RNA binding p.G986G(2) NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GTACTGGCTGTCCAACTATCA 0.562 5 32 --- --- --- --- HIST1H2BO 8348 broad.mit.edu 37 6 27861558 27861558 + Silent SNP G G A TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr6:27861558G>A ENST00000303806.4 + 1 356 c.318G>A c.(316-318)gaG>gaA p.E106E NM_003527.4 NP_003518.2 P23527 H2B1O_HUMAN histone cluster 1, H2bo 106 nucleosome assembly nucleosome|nucleus DNA binding p.E106E(1) TGCCCGGGGAGCTGGCCAAGC 0.637 5 64 --- --- --- --- MUC17 140453 broad.mit.edu 37 7 100693835 100693835 + Silent SNP T T C TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr7:100693835T>C ENST00000306151.4 + 7 12857 c.12793T>C c.(12793-12795)Ttg>Ctg p.L4265L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4265 SEA. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.L4265L(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAAGACAGTATTGGACAATGC 0.463 8 90 --- --- --- --- LAMB1 3912 broad.mit.edu 37 7 107575964 107575964 + Missense_Mutation SNP C C T TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr7:107575964C>T ENST00000393561.1 - 25 4340 c.4156G>A c.(4156-4158)Gag>Aag p.E1386K LAMB1_ENST00000222399.6_Missense_Mutation_p.E1362K|LAMB1_ENST00000474380.1_5'UTR P07942 LAMB1_HUMAN laminin, beta 1 1362 Domain II. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent p.E1362K(1) NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GATTCTCGCTCCATCATCACG 0.542 145 302 --- --- --- --- PLXNA4 91584 broad.mit.edu 37 7 132193088 132193088 + Missense_Mutation SNP T T C TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr7:132193088T>C ENST00000359827.3 - 2 1327 c.365A>G c.(364-366)tAc>tGc p.Y122C PLXNA4_ENST00000321063.4_Missense_Mutation_p.Y122C|PLXNA4_ENST00000378539.5_Missense_Mutation_p.Y122C|PLXNA4_ENST00000423507.2_Missense_Mutation_p.Y122C Q9HCM2 PLXA4_HUMAN plexin A4 122 Sema. integral to membrane|intracellular|plasma membrane p.Y122C(3) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GTTCTCCTTGTAGTCTATGAG 0.552 4 95 --- --- --- --- TNKS 8658 broad.mit.edu 37 8 9564325 9564325 + Missense_Mutation SNP G G T TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr8:9564325G>T ENST00000310430.6 + 8 1300 c.1274G>T c.(1273-1275)gGa>gTa p.G425V TNKS_ENST00000520408.1_Missense_Mutation_p.G425V|TNKS_ENST00000518281.1_Missense_Mutation_p.G188V|TNKS_ENST00000518027.1_3'UTR NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 425 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding p.G425V(3) NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) ATTCAGCATGGAGCTTGTGTT 0.373 4 146 --- --- --- --- GOT1L1 137362 broad.mit.edu 37 8 37794557 37794557 + Missense_Mutation SNP C C T TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr8:37794557C>T ENST00000307599.4 - 5 637 c.538G>A c.(538-540)Gtc>Atc p.V180I NM_152413.2 NP_689626.2 Q8NHS2 AATC2_HUMAN glutamic-oxaloacetic transaminase 1-like 1 180 biosynthetic process|cellular amino acid metabolic process cytoplasm pyridoxal phosphate binding|transaminase activity p.V180I(3) central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1) 14 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) ATCACAAGGACACAGCCATGT 0.557 6 80 --- --- --- --- DCDC1 341019 broad.mit.edu 37 11 31312310 31312310 + Missense_Mutation SNP G G C TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr11:31312310G>C ENST00000597505.1 - 5 843 c.844C>G c.(844-846)Ctt>Gtt p.L282V DCDC1_ENST00000452803.1_Missense_Mutation_p.L282V P59894 DCDC1_HUMAN doublecortin domain containing 1 282 intracellular signal transduction p.L282V(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CTAATAGAAAGAACAGGCTTG 0.393 37 91 --- --- --- --- MYBPC3 4607 broad.mit.edu 37 11 47360202 47360202 + Missense_Mutation SNP C C T TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr11:47360202C>T ENST00000545968.1 - 23 2231 c.2177G>A c.(2176-2178)cGc>cAc p.R726H MYBPC3_ENST00000256993.4_Missense_Mutation_p.R725H|MYBPC3_ENST00000399249.2_Missense_Mutation_p.R726H NM_000256.3 NP_000247.2 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 725 Ig-like C2-type 5. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding p.R726H(2) breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) GGTCTCCACGCGGACCCGGCC 0.642 10 26 --- --- --- --- CCDC88B 283234 broad.mit.edu 37 11 64116832 64116832 + Missense_Mutation SNP G G T TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr11:64116832G>T ENST00000356786.5 + 15 2690 c.2646G>T c.(2644-2646)aaG>aaT p.K882N CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.K34N|CCDC88B_ENST00000301897.4_5'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 882 microtubule cytoskeleton organization cytoplasm microtubule binding p.K882N(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TGCGGGGCAAGGAGTTGGGGG 0.627 3 18 --- --- --- --- MALAT1 378938 broad.mit.edu 37 11 65270044 65270044 + RNA SNP T T A TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr11:65270044T>A ENST00000534336.1 + 0 4812 NR_002819.2 TAGTTCAGCTTGAATGTCTCT 0.308 4 109 --- --- --- --- CYP27B1 1594 broad.mit.edu 37 12 58160784 58160784 + Missense_Mutation SNP C C T TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr12:58160784C>T ENST00000228606.4 - 1 250 c.41G>A c.(40-42)cGc>cAc p.R14H NM_000785.3 NP_000776.1 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, polypeptide 1 14 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding p.R14H(1) central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1) 15 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) CCAGCGGACGCGATGGAACAC 0.627 7 190 --- --- --- --- TMTC3 160418 broad.mit.edu 37 12 88568465 88568465 + Silent SNP T T C TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr12:88568465T>C ENST00000266712.6 + 9 1501 c.1281T>C c.(1279-1281)gaT>gaC p.D427D NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 427 integral to membrane binding p.D427D(1) NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 GAAATTGGGATTGGGAGTCTG 0.343 9 201 --- --- --- --- FAM192A 80011 broad.mit.edu 37 16 57206263 57206263 + Missense_Mutation SNP T T C TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr16:57206263T>C ENST00000309137.8 - 4 506 c.248A>G c.(247-249)gAt>gGt p.D83G FAM192A_ENST00000564108.1_Missense_Mutation_p.D83G|FAM192A_ENST00000569266.1_Missense_Mutation_p.D83G|FAM192A_ENST00000389447.5_Missense_Mutation_p.D83G|FAM192A_ENST00000567439.1_Missense_Mutation_p.D83G|FAM192A_ENST00000566077.1_Missense_Mutation_p.D6G NM_024946.2 NP_079222.1 Q9GZU8 F192A_HUMAN family with sequence similarity 192, member A 83 nucleus p.D83G(1) endometrium(2)|large_intestine(3)|lung(4)|prostate(2) 11 CTCATCTTCATCTAAGCCTCT 0.368 3 137 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696425 47696425 + Missense_Mutation SNP A A C TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr17:47696425A>C ENST00000393331.3 - 7 868 c.398T>G c.(397-399)tTc>tGc p.F133C SPOP_ENST00000504102.1_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000393328.2_Missense_Mutation_p.F133C|SPOP_ENST00000503676.1_Missense_Mutation_p.F133C NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133C(3)|p.F133S(2) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 GAATTTCTTGAATCCCCAGTC 0.448 Prostate(2;0.17) 59 155 --- --- --- --- COL5A3 50509 broad.mit.edu 37 19 10104082 10104082 + Missense_Mutation SNP C C T TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr19:10104082C>T ENST00000264828.3 - 19 1808 c.1723G>A c.(1723-1725)Ggt>Agt p.G575S NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 575 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent p.G575S(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CCTGGGGGACCGGGTTGCCCC 0.567 6 256 --- --- --- --- CRYAA 1409 broad.mit.edu 37 21 44589279 44589279 + Missense_Mutation SNP G G A TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chr21:44589279G>A ENST00000291554.2 + 1 162 c.70G>A c.(70-72)Gac>Aac p.D24N CRYAA_ENST00000482775.1_3'UTR NM_000394.2 NP_000385.1 P02489 CRYAA_HUMAN crystallin, alpha A 24 anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception cytoplasm|nucleus structural constituent of eye lens|unfolded protein binding p.D24N(1) NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 11 CCGGCTGTTCGACCAGTTTTT 0.617 32 117 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44938412 44938412 + Missense_Mutation SNP A A G TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chrX:44938412A>G ENST00000377967.4 + 20 3001 c.2960A>G c.(2959-2961)aAa>aGa p.K987R KDM6A_ENST00000543216.1_Missense_Mutation_p.K908R|KDM6A_ENST00000536777.1_Missense_Mutation_p.K942R|KDM6A_ENST00000382899.4_Missense_Mutation_p.K994R NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 987 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.K987R(2) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TTCTCTACTAAAACTTTGGTG 0.333 """D, N, F, S""" """renal, oesophageal SCC, MM""" 4 59 --- --- --- --- MT-CO1 4512 broad.mit.edu 37 M 6460 6460 + Silent SNP G G A TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb a6bcbcc8-3e2b-454f-933d-cf8a793858c6 g.chrM:6460G>A ENST00000361624.2 + 1 557 c.557G>A c.(556-558)tGa>tAa p.*186* mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 CCTCTTCGTCTGATCCGTCCT 0.473 10 62 --- --- --- ---