Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut CSMD3 114788 broad.mit.edu 37 8 113301656 113301656 + Missense_Mutation SNP C C T TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr8:113301656C>T ENST00000297405.5 - 57 9330 c.9086G>A c.(9085-9087)gGc>gAc p.G3029D CSMD3_ENST00000352409.3_Missense_Mutation_p.G2959D|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2989D|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2860D NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3029 Sushi 21. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGATGACTGGCCTAAAAGGGA 0.463000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 66 113 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22176570 22176570 + Nonsense_Mutation SNP C C T TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr1:22176570C>T ENST00000374695.3 - 57 7489 c.7410G>A c.(7408-7410)tgG>tgA p.W2470* HSPG2_ENST00000430507.1_3'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2470 Ig-like C2-type 10. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding p.W2470*(1) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CGCGCTTGTGCCACGTGACCT 0.652000 5 366 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89417087 89417087 + Missense_Mutation SNP C C T TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr15:89417087C>T ENST00000439576.2 + 17 7722 c.7348C>T c.(7348-7350)Ccc>Tcc p.P2450S ACAN_ENST00000352105.7_Intron|ACAN_ENST00000561243.1_Missense_Mutation_p.P2450S|ACAN_ENST00000559004.1_Missense_Mutation_p.P2412S NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2450 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CTGCGGAGAGCCCCCTGTGGT 0.592000 29 52 0 0 1 0 0 C4orf21 55345 broad.mit.edu 37 4 113540265 113540265 + Silent SNP T T C TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr4:113540265T>C ENST00000505019.1 - 6 1058 c.933A>G c.(931-933)ttA>ttG p.L311L C4orf21_ENST00000309071.5_Silent_p.L311L|C4orf21_ENST00000445203.2_Silent_p.L280L NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 311 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) GCTGGTAGTATAAATTTTCTG 0.368000 7 297 0 0 1 0 0 MT-ND6 4541 broad.mit.edu 37 MT 14410 14410 + Silent SNP G G A TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chrM:14410G>A ENST00000361681.2 - 1 263 c.264C>T c.(262-264)gtC>gtT p.V88V mitochondrially encoded NADH dehydrogenase 6 breast(1)|endometrium(10)|kidney(17)|urinary_tract(1) 29 ACACTCACCAAGACCTCAACC 0.453000 3 16 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577570 7577570 + Missense_Mutation SNP C C T TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr17:7577570C>T ENST00000420246.2 - 7 843 c.711G>A c.(709-711)atG>atA p.M237I TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000269305.4_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 237 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AACTGTTACACATGTAGTTGT 0.567000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 96 27 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183694776 183694776 + Missense_Mutation SNP G G T TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr4:183694776G>T ENST00000511685.1 + 23 5167 c.5044G>T c.(5044-5046)Gat>Tat p.D1682Y TENM3_ENST00000406950.2_Missense_Mutation_p.D1682Y|RP11-18D7.2_ENST00000513255.1_RNA teneurin transmembrane protein 3 GTCCTCGATCGATTCTTTCTA 0.463000 12 239 0.00136819 0.0013986 1 1 0 RELN 5649 broad.mit.edu 37 7 103322641 103322641 + Missense_Mutation SNP G G A TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr7:103322641G>A ENST00000424685.2 - 11 1370 c.1211C>T c.(1210-1212)gCc>gTc p.A404V RELN_ENST00000343529.5_Missense_Mutation_p.A404V|RELN_ENST00000428762.1_Missense_Mutation_p.A404V P78509 RELN_HUMAN reelin 404 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) CCTGGTGGTGGCAAAATTGAA 0.453000 4 187 0 0 1 0 0 SORD 6652 broad.mit.edu 37 15 45357562 45357562 + Silent SNP A A G TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr15:45357562A>G ENST00000267814.9 + 5 699 c.519A>G c.(517-519)ggA>ggG p.G173G SORD_ENST00000558580.1_Silent_p.G152G NM_003104.5 NP_003095.2 Q00796 DHSO_HUMAN sorbitol dehydrogenase 173 fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(4) 9 all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122) all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706) NADH(DB00157) TTACCCTGGGACACAAGGTCC 0.562000 49 113 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9073155 9073155 + Missense_Mutation SNP G G A TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr19:9073155G>A ENST00000397910.4 - 3 14494 c.14291C>T c.(14290-14292)cCg>cTg p.P4764L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4766 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.P4764L(2)|p.P397L(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGCCATTGCGGTGTGAAAGC 0.488000 69 106 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr2:209113113G>A ENST00000415913.1 - 4 775 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 62 86 0 0 1 0 0 TRAF3 7187 broad.mit.edu 37 14 103371628 103371628 + Missense_Mutation SNP G G A TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr14:103371628G>A ENST00000560371.1 + 11 1431 c.1214G>A c.(1213-1215)cGc>cAc p.R405H TRAF3_ENST00000347662.4_Missense_Mutation_p.R380H|TRAF3_ENST00000351691.5_Missense_Mutation_p.R380H|TRAF3_ENST00000539721.1_Missense_Mutation_p.R322H|TRAF3_ENST00000392745.2_Missense_Mutation_p.R405H NM_003300.3|NM_145725.2 NP_003291.2|NP_663777.1 Q13114 TRAF3_HUMAN TNF receptor-associated factor 3 405 R -> G (in Ref. 4; AAA56753). apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2) 30 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) ATGGACCTGCGCTTCCAGGTC 0.617000 4 140 0 0 1 0 0 NUTM2G 441457 broad.mit.edu 37 9 99694200 99694200 + Silent SNP C C T TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr9:99694200C>T ENST00000354649.3 + 2 928 c.213C>T c.(211-213)cgC>cgT p.R71R HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000372322.3_Silent_p.R71R NM_001045477.2 NP_001038942.1 NUT family member 2G AGGATGGCCGCGGCCCAAGTG 0.642000 25 49 0 0 1 0 0 PDCL 5082 broad.mit.edu 37 9 125582829 125582829 + Missense_Mutation SNP C C G TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr9:125582829C>G ENST00000259467.4 - 4 606 c.441G>C c.(439-441)gaG>gaC p.E147D NM_005388.4 NP_005379.3 Q13371 PHLP_HUMAN phosducin-like 147 signal transduction|visual perception endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 10 GCTGCCGCATCTCTTCCATTC 0.473000 7 202 0 0 1 0 0 CSAG4 0 broad.mit.edu 37 X 151896589 151896589 + RNA SNP C C A TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chrX:151896589C>A ENST00000361201.4 - 0 351 NR_073432.1 p.L11F(1) endometrium(2)|kidney(2)|lung(1) 5 GGTTGTTGGACAATGGGCTGG 0.557000 6 161 0.00198382 0.00198382 1 1 0 ATRX 546 broad.mit.edu 37 X 76813106 76813106 + Missense_Mutation SNP T T C TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chrX:76813106T>C ENST00000373344.5 - 30 6729 c.6515A>G c.(6514-6516)gAa>gGa p.E2172G ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.E2134G NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2172 Helicase C-terminal. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AATCTTATCTTCCATGGTTCC 0.338000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 90 36 0 0 1 0 0 SPERT 220082 broad.mit.edu 37 13 46287414 46287414 + Missense_Mutation SNP C C T TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr13:46287414C>T ENST00000378966.3 + 2 562 c.146C>T c.(145-147)gCg>gTg p.A49V SPERT_ENST00000310521.1_Missense_Mutation_p.A85V Q8NA61 SPERT_HUMAN spermatid associated 85 cytoplasmic membrane-bounded vesicle NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 15 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) CGCAGGATGGCGAGCCAGCAC 0.672000 47 72 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 5 154 2.0095e-06 2.10084e-06 1 1 0 AKAP3 10566 broad.mit.edu 37 12 4736590 4736590 + Missense_Mutation SNP G G A TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr12:4736590G>A ENST00000545990.2 - 5 2002 c.1478C>T c.(1477-1479)tCc>tTc p.S493F AKAP3_ENST00000228850.1_Missense_Mutation_p.S493F NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 493 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 GTACTCAAAGGAAATGTCTGA 0.453000 5 77 0 0 1 0 0 BTNL8 79908 broad.mit.edu 37 5 180335642 180335642 + Missense_Mutation SNP G G A TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr5:180335642G>A ENST00000231229.4 + 2 340 c.106G>A c.(106-108)Gca>Aca p.A36T BTNL8_ENST00000508408.1_Missense_Mutation_p.A36T|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Missense_Mutation_p.A36T NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 36 Ig-like V-type 1. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGGGGAGGACGCAGCATTCTC 0.537000 27 55 0 0 1 0 0 RHO 6010 broad.mit.edu 37 3 129249862 129249862 + Missense_Mutation SNP G G A TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr3:129249862G>A ENST00000296271.3 + 2 599 c.505G>A c.(505-507)Gca>Aca p.A169T NM_000539.3 NP_000530.1 P08100 OPSD_HUMAN rhodopsin 169 protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 22 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) GGCCTGCGCCGCACCCCCACT 0.617000 4 134 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39666968 39666968 + Silent SNP T T C TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr8:39666968T>C ENST00000265708.4 - 7 634 c.531A>G c.(529-531)gcA>gcG p.A177A ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Silent_p.A177A|ADAM2_ENST00000347580.4_Intron NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 177 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CTATATACTTTGCAAAATCTT 0.259000 4 111 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92472597 92472597 + Missense_Mutation SNP G G A TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr14:92472597G>A ENST00000267622.4 - 11 2096 c.1723C>T c.(1723-1725)Cat>Tat p.H575Y NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 575 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TTGGTTAAATGTAAATCATTT 0.318000 T PDGFRB AML 71 129 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839353 62839353 + Silent SNP A A G TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr20:62839353A>G ENST00000536311.1 + 7 1168 c.804A>G c.(802-804)gaA>gaG p.E268E MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E268E Q01538 MYT1_HUMAN myelin transcription factor 1 268 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E268E(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) aggaggaggaagaggaggagg 0.572000 5 29 0 0 1 0 0 KNTC1 9735 broad.mit.edu 37 12 123071291 123071291 + Silent SNP C C T TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr12:123071291C>T ENST00000333479.7 + 38 3894 c.3717C>T c.(3715-3717)tgC>tgT p.C1239C KNTC1_ENST00000450485.2_Intron NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 1239 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TGCCATACTGCTCCCTTAATG 0.294000 4 93 0 0 1 0 0 KATNA1 11104 broad.mit.edu 37 6 149922761 149922761 + Missense_Mutation SNP G G C TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr6:149922761G>C ENST00000367411.2 - 7 1115 c.857C>G c.(856-858)tCt>tGt p.S286C KATNA1_ENST00000494504.1_5'UTR|KATNA1_ENST00000335643.8_Missense_Mutation_p.S210C|KATNA1_ENST00000335647.5_Missense_Mutation_p.S286C NM_007044.3 NP_008975.1 O75449 KTNA1_HUMAN katanin p60 (ATPase containing) subunit A 1 286 cell division|interphase of mitotic cell cycle|mitosis microtubule|microtubule organizing center|spindle pole ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 12 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173) AAGCTTCTCAGATTCTCCTCT 0.408000 6 203 0 0 1 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51628302 51628302 + Missense_Mutation SNP C C T TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr19:51628302C>T ENST00000440804.3 + 1 138 c.71C>T c.(70-72)aCg>aTg p.T24M SIGLEC9_ENST00000250360.3_Missense_Mutation_p.T24M NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 24 Ig-like V-type. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) AAACTGCTGACGATGCAGAGT 0.617000 34 60 0 0 1 0 0 KIAA1755 85449 broad.mit.edu 37 20 36874469 36874469 + Silent SNP G G A TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr20:36874469G>A ENST00000279024.4 - 2 334 c.63C>T c.(61-63)ttC>ttT p.F21F NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 21 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) CTGTGGCCTCGAAAGGAGGAT 0.602000 18 40 0 0 1 0 0 SEPT7 989 broad.mit.edu 37 7 35930362 35930362 + Silent SNP T T C TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr7:35930362T>C ENST00000494488.2 + 10 915 c.915T>C c.(913-915)taT>taC p.Y305Y SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000350320.6_Silent_p.Y318Y|SEPT7_ENST00000435235.1_Silent_p.Y266Y|SEPT7_ENST00000399034.2_Silent_p.Y320Y Q16181 SEPT7_HUMAN septin 7 319 cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber GTP binding|protein binding|structural molecule activity p.Y320Y(3) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1) 14 CTGTGACTTATAATGGAGTTG 0.323000 4 60 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5360235 5360235 + Nonsense_Mutation SNP G G C TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr7:5360235G>C ENST00000399537.4 - 23 6912 c.6564C>G c.(6562-6564)taC>taG p.Y2188* TNRC18_ENST00000430969.1_Nonsense_Mutation_p.Y2188* O15417 TNC18_HUMAN trinucleotide repeat containing 18 2188 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CCACCACGCGGTATCTGTAGG 0.672000 3 50 0 0 1 0 0 NKD1 85407 broad.mit.edu 37 16 50666305 50666305 + Missense_Mutation SNP C C G TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr16:50666305C>G ENST00000268459.3 + 9 1033 c.809C>G c.(808-810)tCc>tGc p.S270C NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 270 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) AACTACACGTCCCAATTTGGG 0.597000 36 44 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207758074 207758074 + Nonsense_Mutation SNP G G T TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr1:207758074G>T ENST00000367049.4 + 33 5383 c.5383G>T c.(5383-5385)Gaa>Taa p.E1795* CR1_ENST00000367053.1_Nonsense_Mutation_p.E1345*|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Nonsense_Mutation_p.E1345*|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367052.1_Nonsense_Mutation_p.E1345*|CR1_ENST00000367051.1_Nonsense_Mutation_p.E1345* NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1345 Sushi 28. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTATGGAAAAGAAATATCTTA 0.473000 83 174 5.72486e-32 6.12427e-32 1 1 0 E2F2 1870 broad.mit.edu 37 1 23848548 23848548 + Splice_Site SNP G G A TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr1:23848548G>A ENST00000361729.2 - 3 785 c.358_splice c.e3-1 p.T120_splice NM_004091.3 NP_004082.1 Q14209 E2F2_HUMAN E2F transcription factor 2 120 G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding p.T120I(1) endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19) GGATTTGGGGGCTGAAGAAGA 0.587000 27 41 0 0 1 0 0 KRT26 353288 broad.mit.edu 37 17 38926244 38926244 + Missense_Mutation SNP C C T TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr17:38926244C>T ENST00000335552.4 - 4 860 c.812G>A c.(811-813)cGc>cAc p.R271H NM_181539.4 NP_853517.2 Q7Z3Y9 K1C26_HUMAN keratin 26 271 Coil 2.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) AGCATCTTTGCGGTTCTGCTC 0.512000 5 385 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2084102 2084102 + Missense_Mutation SNP G G A TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr9:2084102G>A ENST00000382203.1 + 17 2641 c.2432G>A c.(2431-2433)cGt>cAt p.R811H SMARCA2_ENST00000382194.1_Missense_Mutation_p.R811H|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R811H|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R811H P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 811 Helicase ATP-binding. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) CCTGCCATGCGTCGCTCCCTT 0.403000 34 41 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 4 157 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113147636 113147636 + Frame_Shift_Del DEL A A - TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr2:113147636delA ENST00000302558.3 - 20 3077 c.2886delT c.(2884-2886)ttfs p.F962fs RGPD8_ENST00000409750.1_Frame_Shift_Del_p.F822fs NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 TTGTTTGGCCAAAAATCACAC 0.408 7 457 --- --- --- --- MUC4 4585 broad.mit.edu 37 3 195512373 195512374 + In_Frame_Ins INS - - GAT rs63118461 by1000genomes TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr3:195512373_195512374insGAT ENST00000463781.3 - 2 6536_6537 c.6077_6078insATC c.(6076-6078)tac>tATCac p.2026_2027insH MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2027insH NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 798 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.S2026_T2027insS(3) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGTCACCAGTGGATGCTGAGGA 0.579 4 2 --- --- --- --- PRSS29P 0 broad.mit.edu 37 16 1311513 1311514 + RNA INS - - GGCA rs5815085 by1000genomes TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr16:1311513_1311514insGGCA ENST00000568091.1 - 0 1353 GGTGGGAGCAGGGCAGGCAGGC 0.708 4 6 --- --- --- --- PPM1E 22843 broad.mit.edu 37 17 56833644 56833646 + In_Frame_Del DEL GAG GAG - TCGA-S9-A6U8-01A-21D-A33T-08 TCGA-S9-A6U8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4922ebd-a1dd-4055-bfb2-b2307252c666 173c8320-f449-4c23-ad2d-089f1e14323a g.chr17:56833644_56833646delGAG ENST00000308249.2 + 1 415_417 c.286_288delGAG c.(286-288)del p.E100del NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 100 Glu-rich.|Pro-rich. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) ggttgagggtgaggaggaggagg 0.783 3 3 --- --- --- ---