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 SH3TC1 54436 broad.mit.edu 37 4 8218826 8218826 + Silent SNP G G A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr4:8218826G>A ENST00000539824.1 + 7 917 c.543G>A c.(541-543)ccG>ccA p.P181P SH3TC1_ENST00000245105.3_Silent_p.P257P Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 257 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 CTTCACCGCCGAGCCCCAGCG 0.672000 7 27 0 0 1 0 0 TMUB1 83590 broad.mit.edu 37 7 150779522 150779522 + Silent SNP C C T TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr7:150779522C>T ENST00000392818.3 - 2 486 c.129G>A c.(127-129)ccG>ccA p.P43P TMUB1_ENST00000476627.1_Silent_p.P43P|TMUB1_ENST00000482202.1_Silent_p.P43P|TMUB1_ENST00000462940.1_Silent_p.P43P|TMUB1_ENST00000297533.4_Silent_p.P43P NM_031434.3 NP_113622.1 Q9BVT8 TMUB1_HUMAN transmembrane and ubiquitin-like domain containing 1 43 cytoplasm|integral to membrane|nucleus endometrium(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGGTCCCTGACGGCTGGGGCA 0.677000 20 82 0 0 1 0 0 HLA-DRB6 0 broad.mit.edu 37 6 32522722 32522722 + RNA SNP C C A rs114905475 by1000genomes TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr6:32522722C>A ENST00000411500.1 - 0 484 NR_001298.1 TGGGTCTTTGCAGGATACACA 0.488000 4 10 0.014758 0.0149719 1 1 0 TOP2B 7155 broad.mit.edu 37 3 25670393 25670393 + Silent SNP G G A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr3:25670393G>A ENST00000435706.2 - 15 2037 c.1836C>T c.(1834-1836)gaC>gaT p.D612D TOP2B_ENST00000264331.4_Silent_p.D617D Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa 617 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 TTTTCCATTCGTCAAATTCAG 0.264000 4 60 0 0 1 0 0 PTPDC1 138639 broad.mit.edu 37 9 96859862 96859862 + Silent SNP C C T TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr9:96859862C>T ENST00000375360.3 + 7 1192 c.852C>T c.(850-852)caC>caT p.H284H PTPDC1_ENST00000288976.3_Silent_p.H336H NM_001253830.1|NM_177995.2 NP_001240759.1|NP_818931.1 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 284 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 TTCTGAAACACGTGCCAAAAA 0.478000 9 83 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 29004260 29004260 + Nonsense_Mutation SNP C C A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr13:29004260C>A ENST00000282397.4 - 8 1284 c.1033G>T c.(1033-1035)Gaa>Taa p.E345* FLT1_ENST00000541932.1_Nonsense_Mutation_p.E345*|FLT1_ENST00000539099.1_Nonsense_Mutation_p.E345* NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 345 Ig-like C2-type 4. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GCTACGGTTTCAAGCACCTGC 0.408000 7 55 5.4927e-09 6.20144e-09 1 1 0 SOS1 6654 broad.mit.edu 37 2 39234309 39234309 + Missense_Mutation SNP C C T TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr2:39234309C>T ENST00000426016.1 - 17 2622 c.2536G>A c.(2536-2538)Gaa>Aaa p.E846K SOS1_ENST00000395038.2_Missense_Mutation_p.E846K|SOS1_ENST00000402219.2_Missense_Mutation_p.E846K Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 846 Ras-GEF. E -> K (in NS4). apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.E846K(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) ACTCTTTCTTCTAAATTTTCA 0.308000 Noonan syndrome 13 124 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55221710 55221710 + Missense_Mutation SNP C C T TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr7:55221710C>T ENST00000275493.2 + 7 931 c.754C>T c.(754-756)Cgc>Tgc p.R252C EGFR_ENST00000454757.2_Missense_Mutation_p.R199C|EGFR_ENST00000420316.2_Missense_Mutation_p.R252C|EGFR_ENST00000342916.3_Missense_Mutation_p.R252C|EGFR_ENST00000344576.2_Missense_Mutation_p.R252C|EGFR_ENST00000442591.1_Missense_Mutation_p.R252C|EGFR_ENST00000455089.1_Missense_Mutation_p.R207C NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 252 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.R252C(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) ATAGGTCTGCCGCAAATTCCG 0.582000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 5 60 0 0 1 0 0 CEL 1056 broad.mit.edu 37 9 135939834 135939834 + Missense_Mutation SNP A A G TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr9:135939834A>G ENST00000372080.4 + 2 135 c.119A>G c.(118-120)aAt>aGt p.N40S CEL_ENST00000351304.7_Missense_Mutation_p.N37S NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 37 Heparin-binding. cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) GAAGGCGTCAATAAGAAGCTC 0.627000 6 57 0 0 1 0 0 IL8 0 broad.mit.edu 37 4 74607730 74607730 + Missense_Mutation SNP G G T TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr4:74607730G>T ENST00000307407.3 + 3 418 c.265G>T c.(265-267)Gtg>Ttg p.V89L IL8_ENST00000401931.1_Missense_Mutation_p.V89L NM_000584.3 NP_000575.1 P10145 IL8_HUMAN interleukin 8 89 angiogenesis|calcium-mediated signaling|cell cycle arrest|cellular response to lipopolysaccharide|embryonic digestive tract development|G-protein coupled receptor protein signaling pathway|immune response|induction of positive chemotaxis|inflammatory response|negative regulation of cell proliferation|neutrophil activation|neutrophil chemotaxis|positive regulation of neutrophil chemotaxis|regulation of cell adhesion|regulation of retroviral genome replication extracellular space|intracellular chemokine activity|interleukin-8 receptor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1) 6 Breast(15;0.00102) all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) LUSC - Lung squamous cell carcinoma(721;0.008) Ketoprofen(DB01009)|Salbutamol(DB01001)|Simvastatin(DB00641)|Zileuton(DB00744) GCAGAGGGTTGTGGAGAAGTT 0.328000 4 55 1.23904e-05 1.33435e-05 1 1 0 SCAF11 9169 broad.mit.edu 37 12 46320546 46320546 + Missense_Mutation SNP C C T TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr12:46320546C>T ENST00000465950.1 - 1 3202 c.1993G>A c.(1993-1995)Gga>Aga p.G665R SCAF11_ENST00000549162.1_Missense_Mutation_p.G788R|SCAF11_ENST00000369367.3_Missense_Mutation_p.G980R|SCAF11_ENST00000419565.2_Missense_Mutation_p.G980R Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 980 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 CGATCATTTCCTCGTGGACAT 0.393000 18 155 0 0 1 0 0 TSPEAR 54084 broad.mit.edu 37 21 45949682 45949682 + Splice_Site SNP A A T TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr21:45949682A>T ENST00000323084.4 - 5 854 c.790_splice c.e5+1 p.Y263_splice TSPEAR_ENST00000397916.1_Splice_Site_p.Y195_splice NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 263 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 CCTACTAACCATAGGGATATT 0.642000 11 45 0 0 1 0 0 RECQL4 9401 broad.mit.edu 37 8 145742489 145742489 + Missense_Mutation SNP C C A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr8:145742489C>A ENST00000428558.2 - 4 340 c.299G>T c.(298-300)gGc>gTc p.G100V RECQL4_ENST00000532237.1_5'UTR NM_004260.3 NP_004251.3 O94761 RECQ4_HUMAN RecQ protein-like 4 100 DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CGGCACCGAGCCCTGGCGGCT 0.672000 """N, F, S""" """osteosarcoma, skin basal and sqamous cell""" Genes defective in diseases associated with sensitivity to DNA damaging agents Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 3 19 6.4e-05 6.68657e-05 1 1 0 MYO1G 64005 broad.mit.edu 37 7 45007262 45007262 + Missense_Mutation SNP G G A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr7:45007262G>A ENST00000258787.7 - 14 1860 c.1724C>T c.(1723-1725)aCg>aTg p.T575M NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 575 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 TGTGCCAGCCGTCAGGGGGCG 0.622000 11 61 0 0 1 0 0 RASSF9 9182 broad.mit.edu 37 12 86198645 86198645 + Silent SNP T T C TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr12:86198645T>C ENST00000361228.3 - 2 1511 c.1143A>G c.(1141-1143)agA>agG p.R381R NM_005447.3 NP_005438.2 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 381 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ATTCCTTCGCTCTGTTTTCCT 0.418000 4 120 0 0 1 0 0 CCSER1 401145 broad.mit.edu 37 4 91549203 91549203 + Silent SNP C C T TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr4:91549203C>T ENST00000509176.1 + 6 2040 c.1752C>T c.(1750-1752)gaC>gaT p.D584D CCSER1_ENST00000333691.8_Silent_p.D584D|CCSER1_ENST00000432775.2_Silent_p.D584D NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 p.D586D(1)|p.D584D(1) TAACAAAGGACGTTGATCAAG 0.418000 7 54 0 0 1 0 0 GNA14 9630 broad.mit.edu 37 9 80046294 80046294 + Missense_Mutation SNP C C G TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr9:80046294C>G ENST00000341700.6 - 4 1049 c.536G>C c.(535-537)cGa>cCa p.R179P GNA14_ENST00000464095.1_5'UTR NM_004297.3 NP_004288.1 O95837 GNA14_HUMAN guanine nucleotide binding protein (G protein), alpha 14 179 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity p.R179Q(1) endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 24 GGTGGGCACTCGGACGCGAAG 0.493000 12 38 0 0 1 0 0 PCMTD1 115294 broad.mit.edu 37 8 52746176 52746176 + Nonsense_Mutation SNP G G A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr8:52746176G>A ENST00000360540.5 - 5 890 c.484C>T c.(484-486)Cga>Tga p.R162* PCMTD1_ENST00000544451.1_Nonsense_Mutation_p.R86*|PCMTD1_ENST00000522514.1_Nonsense_Mutation_p.R162*|PCMTD1_ENST00000519559.1_5'UTR NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 162 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) CAATAAATTCGATCATACTGA 0.363000 7 75 0 0 1 0 0 EIF4A2 1974 broad.mit.edu 37 3 186501416 186501416 + Missense_Mutation SNP C C T TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr3:186501416C>T ENST00000323963.5 + 1 81 c.17C>T c.(16-18)gCg>gTg p.A6V RP11-573D15.9_ENST00000577781.1_RNA|EIF4A2_ENST00000356531.5_5'UTR|EIF4A2_ENST00000440191.2_Missense_Mutation_p.A6V Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 6 interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1) 28 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) GGTGGCTCCGCGGATTATAAC 0.567000 T BCL6 NHL 4 113 0 0 1 0 0 SERPINB10 5273 broad.mit.edu 37 18 61602098 61602098 + Missense_Mutation SNP G G C TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr18:61602098G>C ENST00000238508.3 + 8 875 c.816G>C c.(814-816)aaG>aaC p.K272N AC009802.1_ENST00000599868.1_Splice_Site_p.L13_splice NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) CCTATGAGAAGCTGAATGAGT 0.443000 5 56 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56552353 56552353 + Missense_Mutation SNP G G A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr19:56552353G>A ENST00000390649.3 + 11 2852 c.2852G>A c.(2851-2853)cGg>cAg p.R951Q NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 951 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GTCAGCAACCGGAGCTTGACA 0.567000 7 74 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7579661 7579661 + Missense_Mutation SNP G G A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr6:7579661G>A ENST00000379802.3 + 23 3579 c.3238G>A c.(3238-3240)Gag>Aag p.E1080K DSP_ENST00000418664.2_Missense_Mutation_p.E1080K NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1080 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGCGAGCCTGGAGGAGCTGAA 0.478000 4 63 0 0 1 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12908038 12908038 + Silent SNP C C T TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr1:12908038C>T ENST00000317869.6 - 2 330 c.105G>A c.(103-105)gcG>gcA p.A35A NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 p.A35A(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 TGGAAAAGATCGCCTCCACAT 0.473000 7 173 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9006762 9006762 + Silent SNP G G A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr19:9006762G>A ENST00000397910.4 - 44 39689 c.39486C>T c.(39484-39486)acC>acT p.T13162T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13164 cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding 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 GGAGAGGGCCGGTGGCTATAG 0.423000 7 102 0 0 1 0 0 MS4A4A 51338 broad.mit.edu 37 11 60064771 60064771 + Silent SNP C C T TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr11:60064771C>T ENST00000355131.3 + 4 469 c.246C>T c.(244-246)atC>atT p.I82I MS4A4A_ENST00000395016.3_Silent_p.I82I|MS4A4A_ENST00000532114.1_Silent_p.I101I|MS4A4A_ENST00000337908.4_Silent_p.I101I NM_024021.3 NP_076926.2 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 4A 101 integral to membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4) 23 CCGTGTATATCGGGTACACAA 0.388000 5 91 0 0 1 0 0 ATP13A3 79572 broad.mit.edu 37 3 194154513 194154513 + Missense_Mutation SNP C C T rs138465420 by1000genomes TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr3:194154513C>T ENST00000439040.1 - 21 3024 c.2233G>A c.(2233-2235)Gtc>Atc p.V745I ATP13A3_ENST00000256031.4_Missense_Mutation_p.V745I Q9H7F0 AT133_HUMAN ATPase type 13A3 745 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) GTGACCATGACGGTGCGAATG 0.348000 15 103 0 0 1 0 0 C9orf72 203228 broad.mit.edu 37 9 27565531 27565531 + Nonsense_Mutation SNP G G A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr9:27565531G>A ENST00000380003.3 - 3 565 c.502C>T c.(502-504)Cag>Tag p.Q168* C9orf72_ENST00000488117.1_5'UTR|C9orf72_ENST00000379997.3_Nonsense_Mutation_p.Q168* NM_001256054.1|NM_018325.3 NP_001242983.1|NP_060795.1 Q96LT7 CI072_HUMAN chromosome 9 open reading frame 72 168 breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1) 23 all_neural(11;7.57e-10) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016) GCATATACCTGATCTTCCATT 0.353000 7 59 0 0 1 0 0 PHEX 5251 broad.mit.edu 37 X 22095783 22095783 + Missense_Mutation SNP C C A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chrX:22095783C>A ENST00000379374.4 + 5 1191 c.626C>A c.(625-627)tCc>tAc p.S209Y PHEX_ENST00000535894.1_Missense_Mutation_p.S112Y|PHEX_ENST00000537599.1_Missense_Mutation_p.S209Y NM_000444.4 NP_000435.3 P78562 PHEX_HUMAN phosphate regulating endopeptidase homolog, X-linked 209 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 TTGTATGTGTCCCCTGATGAC 0.453000 14 93 4.3838e-07 4.79478e-07 1 1 0 MLK4 0 broad.mit.edu 37 1 233518415 233518415 + Silent SNP C C T TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr1:233518415C>T ENST00000366624.3 + 10 3330 c.3069C>T c.(3067-3069)agC>agT p.S1023S MLK4_ENST00000366622.1_Silent_p.S469S NM_032435.2 NP_115811.2 GCAAAACCAGCCGGCCATCTA 0.423000 4 51 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2621836 2621836 + Missense_Mutation SNP C C T TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr20:2621836C>T ENST00000358864.1 + 20 2575 c.2560C>T c.(2560-2562)Cct>Tct p.P854S NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 854 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 GGCGCAGGGCCCTGGGACCTC 0.587000 8 92 0 0 1 0 0 HS3ST1 9957 broad.mit.edu 37 4 11401216 11401216 + Silent SNP C C T TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr4:11401216C>T ENST00000002596.5 - 2 1588 c.414G>A c.(412-414)ccG>ccA p.P138P NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 138 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 GCCGGATGGACGGGTTCATGC 0.592000 5 47 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68956801 68956801 + Missense_Mutation SNP G G A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr8:68956801G>A ENST00000288368.4 + 8 1196 c.919G>A c.(919-921)Gtg>Atg p.V307M PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 307 PH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GGTGATGGAAGTGGAGAATGT 0.418000 8 78 0 0 1 0 0 LGALS13 29124 broad.mit.edu 37 19 40095888 40095888 + Nonsense_Mutation SNP C C T TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr19:40095888C>T ENST00000221797.4 + 3 208 c.163C>T c.(163-165)Cga>Tga p.R55* NM_013268.2 NP_037400.1 Q9UHV8 PP13_HUMAN lectin, galactoside-binding, soluble, 13 55 Galectin. lipid catabolic process|phospholipid metabolic process carboxylesterase activity|lysophospholipase activity|sugar binding lung(5)|ovary(1)|urinary_tract(1) 7 all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116) Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) CTTCCGTTTCCGAGTGCACTT 0.498000 4 34 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29586111 29586111 + Missense_Mutation SNP A A G TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr17:29586111A>G ENST00000358273.4 + 33 4777 c.4394A>G c.(4393-4395)aAt>aGt p.N1465S NF1_ENST00000356175.3_Missense_Mutation_p.N1444S NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1465 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(5) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CGGCCTTTCAATGATTTTGTG 0.333000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 10 63 0 0 1 0 0 CD81 975 broad.mit.edu 37 11 2416679 2416679 + Missense_Mutation SNP G G A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr11:2416679G>A ENST00000263645.5 + 5 644 c.388G>A c.(388-390)Gcc>Acc p.A130T CD81_ENST00000492627.1_Missense_Mutation_p.A59T|CD81_ENST00000481687.1_Missense_Mutation_p.A136T|CD81_ENST00000524805.1_3'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.A168T|CD81_ENST00000526072.1_Missense_Mutation_p.A59T NM_004356.3 NP_004347.1 P60033 CD81_HUMAN CD81 molecule 130 activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor integral to plasma membrane protein binding endometrium(1)|lung(3)|skin(1) 5 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191) CTATGACCAGGCCCTACAGCA 0.682000 7 36 0 0 1 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298843 125298843 + Silent SNP C C T TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chrX:125298843C>T ENST00000538699.1 - 2 1145 c.1065G>A c.(1063-1065)tcG>tcA p.S355S DCAF12L2_ENST00000360028.2_Silent_p.S355S NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 355 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 AGAAGCTCAGCGACCGCACGC 0.632000 6 36 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3240937 3240937 + Missense_Mutation SNP A A T TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chrX:3240937A>T ENST00000217939.6 - 5 2943 c.2789T>A c.(2788-2790)gTc>gAc p.V930D NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 930 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTTTTCATAGACTGTGTCTAA 0.507000 12 29 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100610076 100610076 + Missense_Mutation SNP C C G rs146817925 by1000genomes TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr7:100610076C>G ENST00000319509.7 + 10 2561 c.2561C>G c.(2560-2562)gCc>gGc p.A854G RP11-395B7.2_ENST00000420080.1_RNA mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TTCCATGTGGCCTTGGAGAAC 0.567000 6 151 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7405004 7405004 + Missense_Mutation SNP A A G TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr17:7405004A>G ENST00000322644.6 + 14 2704 c.2305A>G c.(2305-2307)Atg>Gtg p.M769V NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 769 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding p.M769V(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) CTTCAAGTCTATGGTCGTGTC 0.483000 5 61 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132207208 132207208 + Missense_Mutation SNP G G A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr3:132207208G>A ENST00000260818.6 + 30 3582 c.3334G>A c.(3334-3336)Gat>Aat p.D1112N NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1112 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 TATCATGCAAGATAACCCACA 0.373000 13 69 0 0 1 0 0 CRYGA 1418 broad.mit.edu 37 2 209027942 209027942 + Missense_Mutation SNP G G A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr2:209027942G>A ENST00000304502.4 - 2 257 c.238C>T c.(238-240)Cgt>Tgt p.R80C NM_014617.3 NP_055432.2 crystallin, gamma A endometrium(1)|kidney(3)|large_intestine(1)|lung(7) 12 Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135) GGAATTATACGGCAGGATTGG 0.493000 9 49 0 0 1 0 0 PRDM7 11105 broad.mit.edu 37 16 90130121 90130121 + Translation_Start_Site SNP G G A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr16:90130121G>A ENST00000407825.1 - 0 426 PRDM7_ENST00000449207.2_Missense_Mutation_p.T136M Q9NQW5 PRDM7_HUMAN PR domain containing 7 chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) TAAATTTGGCGTTCCTGACAA 0.413000 6 33 0 0 1 0 0 OR5T3 390154 broad.mit.edu 37 11 56020078 56020078 + Missense_Mutation SNP G G T rs143584658 TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr11:56020078G>T ENST00000303059.3 + 1 403 c.403G>T c.(403-405)Gtt>Ttt p.V135F NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) GCTTCTTTTTGTTACTTTTGG 0.383000 13 183 4.3838e-07 4.79478e-07 1 1 0 RRAD 6236 broad.mit.edu 37 16 66956164 66956164 + Missense_Mutation SNP C C T TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr16:66956164C>T ENST00000299759.6 - 5 992 c.742G>A c.(742-744)Gtg>Atg p.V248M RRAD_ENST00000420652.1_Missense_Mutation_p.V248M P55042 RAD_HUMAN Ras-related associated with diabetes 248 small GTPase mediated signal transduction plasma membrane calmodulin binding|GTP binding|GTPase activity endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198) ATCTGGCGCACGACACCTTCA 0.607000 8 41 0 0 1 0 0 TSPEAR 54084 broad.mit.edu 37 21 45949706 45949706 + Silent SNP A A G TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr21:45949706A>G ENST00000323084.4 - 5 830 c.765T>C c.(763-765)gaT>gaC p.D255D TSPEAR_ENST00000397916.1_Silent_p.D187D NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 255 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 GCACCTCGTTATCTTCTGGCT 0.637000 9 43 0 0 1 0 0 COX6B1 1340 broad.mit.edu 37 19 36145573 36145573 + Splice_Site SNP G G A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr19:36145573G>A ENST00000246554.3 + 3 399 c.207_splice c.e3+1 p.W69_splice COX6B1_ENST00000592141.1_Splice_Site_p.W69_splice|COX6B1_ENST00000392201.1_Splice_Site_p.W69_splice NM_001863.4 NP_001854.1 P14854 CX6B1_HUMAN cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) 69 respiratory electron transport chain mitochondrial inner membrane|mitochondrial intermembrane space cytochrome-c oxidase activity lung(6)|prostate(1)|stomach(1) 8 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCACATCCTGGGTATGTGCCT 0.602000 4 53 0 0 1 0 0 GPRIN3 285513 broad.mit.edu 37 4 90171145 90171145 + Silent SNP G G A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr4:90171145G>A ENST00000333209.3 - 2 635 c.117C>T c.(115-117)ctC>ctT p.L39L NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 39 L -> V (in dbSNP:rs11734353). breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) TCTTACACAGGAGAGCTGGTC 0.557000 4 69 0 0 1 0 0 C10orf10 11067 broad.mit.edu 37 10 45473358 45473358 + Missense_Mutation SNP C C T TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr10:45473358C>T ENST00000298295.3 - 2 338 c.121G>A c.(121-123)Gtg>Atg p.V41M RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000340258.4_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000374417.2_Intron NM_007021.3 NP_008952.1 Q9NTK1 DEPP_HUMAN chromosome 10 open reading frame 10 41 mitochondrion lung(1) 1 ATAGACCTCACGTAGTCATCC 0.662000 8 72 0 0 1 0 0 MRPL42 28977 broad.mit.edu 37 12 93881384 93881384 + Missense_Mutation SNP C C A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr12:93881384C>A ENST00000549982.1 + 5 492 c.331C>A c.(331-333)Caa>Aaa p.Q111K MRPL42_ENST00000552217.1_Missense_Mutation_p.Q111K|MRPL42_ENST00000548545.1_Missense_Mutation_p.Q111K|MRPL42_ENST00000547098.1_Missense_Mutation_p.Q111K|MRPL42_ENST00000393128.4_Missense_Mutation_p.Q111K|MRPL42_ENST00000361630.2_Missense_Mutation_p.Q111K NM_014050.3|NM_172177.3 NP_054769.1|NP_751917.1 Q9Y6G3 RM42_HUMAN mitochondrial ribosomal protein L42 111 translation mitochondrial small ribosomal subunit structural constituent of ribosome breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2) 7 TATGATAGAACAACTTAGCAA 0.378000 8 140 0.307466 0.307466 1 1 0 CACNA2D3 55799 broad.mit.edu 37 3 54615867 54615867 + Missense_Mutation SNP A A G TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr3:54615867A>G ENST00000474759.1 + 9 974 c.926A>G c.(925-927)aAt>aGt p.N309S CACNA2D3_ENST00000288197.5_Missense_Mutation_p.N309S|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.N215S|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.N309S NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 309 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CCTTGCCTGAATGGAACTTTG 0.448000 3 38 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113534718 113534718 + Missense_Mutation SNP G G A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr12:113534718G>A ENST00000257600.3 + 9 2340 c.1837G>A c.(1837-1839)Gta>Ata p.V613I DTX1_ENST00000547974.1_3'UTR NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 613 negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 AGCCCAGGGCGTATCCGAGGC 0.632000 3 17 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 4 63 0 0 1 0 0 PCDHGA1 0 broad.mit.edu 37 5 140712371 140712371 + Missense_Mutation SNP T T G TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr5:140712371T>G ENST00000517417.1 + 1 2120 c.2120T>G c.(2119-2121)tTc>tGc p.F707C PCDHGA1_ENST00000378105.3_Missense_Mutation_p.F707C NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCCTGGCCTTCGTCATCGTG 0.662000 5 151 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237729966 237729966 + Missense_Mutation SNP T T C TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr1:237729966T>C ENST00000366574.2 + 28 3631 c.3314T>C c.(3313-3315)tTt>tCt p.F1105S RYR2_ENST00000360064.6_Missense_Mutation_p.F1103S|RYR2_ENST00000542537.1_Missense_Mutation_p.F1089S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1105 4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TATTTTGAATTTGAGACGGTC 0.557000 22 151 0 0 1 0 0 B4GALT4 8702 broad.mit.edu 37 3 118935161 118935161 + Silent SNP C C T TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr3:118935161C>T ENST00000467604.1 - 7 1219 c.828G>A c.(826-828)cgG>cgA p.R276R B4GALT4_ENST00000393765.2_Silent_p.R276R|B4GALT4_ENST00000359213.3_Silent_p.R276R|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000483209.1_Silent_p.R276R O60513 B4GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 276 membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding|N-acetyllactosamine synthase activity breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2) 14 GBM - Glioblastoma multiforme(114;0.222) N-Acetyl-D-glucosamine(DB00141) CAGGCAGGGGCCGGGAAATTT 0.418000 10 73 0 0 1 0 0 CAMK2B 816 broad.mit.edu 37 7 44323782 44323782 + Silent SNP G G A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr7:44323782G>A ENST00000395749.2 - 2 184 c.108C>T c.(106-108)acC>acT p.T36T CAMK2B_ENST00000258682.6_Silent_p.T36T|CAMK2B_ENST00000457475.1_Silent_p.T36T|CAMK2B_ENST00000395747.2_Silent_p.T36T|CAMK2B_ENST00000350811.3_Silent_p.T36T|CAMK2B_ENST00000346990.4_Silent_p.T36T|CAMK2B_ENST00000502837.2_5'UTR|CAMK2B_ENST00000353625.4_Silent_p.T36T|CAMK2B_ENST00000358707.3_Silent_p.T36T|CAMK2B_ENST00000347193.4_Silent_p.T36T|CAMK2B_ENST00000440254.2_Silent_p.T36T NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 36 Protein kinase. interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 ACTCATGGCCGGTGCAGAGCT 0.587000 3 30 0 0 1 0 0 CYP11A1 1583 broad.mit.edu 37 15 74659800 74659800 + Missense_Mutation SNP G G A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr15:74659800G>A ENST00000268053.6 - 1 281 c.127C>T c.(127-129)Cgc>Tgc p.R43C CYP11A1_ENST00000467407.1_5'UTR|CYP11A1_ENST00000541301.1_Missense_Mutation_p.R43C NM_000781.2 NP_000772.2 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 43 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) CGAGGACTGCGGGTGGAGATG 0.617000 7 44 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89717741 89717741 + Nonsense_Mutation SNP G G T rs121909228 TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr10:89717741G>T ENST00000371953.3 + 7 2123 c.766G>T c.(766-768)Gag>Tag p.E256* PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 256 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.E256K(2)|p.G165_*404del(1)|p.?(1)|p.D252_K263>AKE(1)|p.K254fs*39(1)|p.E256*(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TATCAAAGTAGAGTTCTTCCA 0.373000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 17 71 5.03518e-11 5.77808e-11 1 1 0 TMEM225 338661 broad.mit.edu 37 11 123753867 123753867 + Missense_Mutation SNP C C T rs114749572 byFrequency TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr11:123753867C>T ENST00000375026.2 - 4 872 c.656G>A c.(655-657)cGt>cAt p.R219H NM_001013743.1 NP_001013765.1 Q6GV28 TM225_HUMAN transmembrane protein 225 219 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 GGTTACGTGACGTGTTTGGAC 0.418000 7 84 0 0 1 0 0 C6orf25 80739 broad.mit.edu 37 6 31691585 31691585 + Silent SNP C C A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr6:31691585C>A ENST00000375809.3 + 2 242 c.231C>A c.(229-231)ctC>ctA p.L77L C6orf25_ENST00000480039.1_Silent_p.L77L|C6orf25_ENST00000375810.4_Silent_p.L77L|C6orf25_ENST00000375805.2_Silent_p.L77L NM_025260.3|NM_138272.2|NM_138277.2 NP_079536.2|NP_612116.1|NP_612121.1 O95866 G6B_HUMAN chromosome 6 open reading frame 25 77 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 TGCCTCCCCTCCAGCCTTTCG 0.687000 6 83 3.59834e-05 3.81642e-05 1 1 0 MISP 126353 broad.mit.edu 37 19 757280 757280 + Missense_Mutation SNP C C T rs149547647 TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr19:757280C>T ENST00000215582.6 + 2 437 c.334C>T c.(334-336)Cgc>Tgc p.R112C NM_173481.2 NP_775752.1 mitotic spindle positioning ATGGGCACTCCGCCCAGAGGA 0.677000 5 31 0 0 1 0 0 ZNF681 148213 broad.mit.edu 37 19 23938242 23938242 + Missense_Mutation SNP T T C TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr19:23938242T>C ENST00000402377.3 - 2 256 c.115A>G c.(115-117)Aac>Gac p.N39D ZNF681_ENST00000395385.3_Intron NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 39 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) AAGACCAGGTTTCTGTAGTTC 0.348000 4 241 0 0 1 0 0 TRIM24 8805 broad.mit.edu 37 7 138223421 138223421 + Missense_Mutation SNP G G A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr7:138223421G>A ENST00000343526.4 + 7 1231 c.1016G>A c.(1015-1017)cGc>cAc p.R339H TRIM24_ENST00000415680.2_Missense_Mutation_p.R339H|TRIM24_ENST00000497516.1_3'UTR O15164 TIF1A_HUMAN tripartite motif containing 24 339 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 AAGGACCATCGCATGAAACTT 0.388000 4 116 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5242305 5242305 + Splice_Site SNP G G A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr5:5242305G>A ENST00000274181.7 + 17 2800 c.e17+1 NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 TGCGGAGGGGGTAGGTGCCTT 0.627000 5 33 0 0 1 0 0 COL9A2 1298 broad.mit.edu 37 1 40781308 40781308 + Frame_Shift_Del DEL G G - TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr1:40781308delG ENST00000372748.3 - 2 200 c.104delC c.(103-105)cgfs p.P35fs NM_001852.3 NP_001843.1 Q14055 CO9A2_HUMAN collagen, type IX, alpha 2 35 Triple-helical region 4 (COL4). axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) CGGGGGACCCGGGGGGCCCCG 0.682 2 4 --- --- --- --- SETMAR 6419 broad.mit.edu 37 3 4355487 4355488 + Frame_Shift_Ins INS - - G TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr3:4355487_4355488insG ENST00000430981.1 + 2 1072_1073 c.1062_1063insG c.(1060-1065)aggaagfs p.K355fs SETMAR_ENST00000425863.1_Intron|SETMAR_ENST00000358065.4_Intron|SUMF1_ENST00000534863.1_Intron NM_001276325.1 NP_001263254.1 Q53H47 SETMR_HUMAN SET domain and mariner transposase fusion gene 0 Mariner transposase Hsmar1. DNA integration|DNA repair|transposition, DNA-mediated chromosome|nucleus DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1) 9 Melanoma(143;0.0657) Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114) CTCCCTATAGTGGAAGACAGTG 0.505 Chromatin Structure 7 37 --- --- --- --- COQ3 51805 broad.mit.edu 37 6 99817677 99817680 + Frame_Shift_Del DEL TGTT TGTT - rs112847497 TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr6:99817677_99817680delTGTT ENST00000254759.3 - 7 930_933 c.906_909delAACA c.(904-909)cafs p.QT302fs COQ3_ENST00000369242.1_Frame_Shift_Del_p.QT74fs|COQ3_ENST00000369240.1_Frame_Shift_Del_p.QT74fs NM_017421.3 NP_059117.3 Q9NZJ6 COQ3_HUMAN coenzyme Q3 methyltransferase 302 glycerol metabolic process|ubiquinone biosynthetic process mitochondrial matrix 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity cervix(1)|lung(5)|upper_aerodigestive_tract(2) 8 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0625) TTCCTACCACTGTTTGAACTGACA 0.368 9 198 --- --- --- --- RP11-467H10.2 0 broad.mit.edu 37 7 76682746 76682747 + RNA INS - - T rs139676054 by1000genomes TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr7:76682746_76682747insT ENST00000459742.1 + 0 58 GTggccgagagtggtggcttat 0.594 3 4 --- --- --- --- RP11-638L3.1 0 broad.mit.edu 37 18 65270178 65270178 + RNA DEL C C - TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e657c6c-2788-4c2f-b9e9-767d234ee760 6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab g.chr18:65270178delC ENST00000583687.1 + 0 204 NR_033921.1 TCTATTTCAGCAGAAGCCAGG 0.363 2 4 --- --- --- ---