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 RUNX2 860 broad.mit.edu 37 6 45390482 45390482 + Missense_Mutation SNP C C G TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr6:45390482C>G ENST00000371438.1 + 2 569 c.211C>G c.(211-213)Cag>Gag p.Q71E RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 71 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 gcagcagcagcaggaggcggc 0.716000 3 25 0 0 1 0 0 PCDHGA1 0 broad.mit.edu 37 5 140712441 140712441 + Silent SNP C C T TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr5:140712441C>T ENST00000517417.1 + 1 2190 c.2190C>T c.(2188-2190)ggC>ggT p.G730G PCDHGA1_ENST00000378105.3_Silent_p.G730G NM_018912.2 NP_061735.1 p.G730G(4) 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) CTTCGGGAGGCGGCTTAGCGA 0.662000 43 74 0 0 1 0 0 ODF3L1 161753 broad.mit.edu 37 15 76018478 76018478 + Silent SNP G G A TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr15:76018478G>A ENST00000332145.2 + 3 532 c.309G>A c.(307-309)ccG>ccA p.P103P NM_175881.3 NP_787077.1 Q8IXM7 OD3L1_HUMAN outer dense fiber of sperm tails 3-like 1 103 kidney(1)|lung(1) 2 CCAGCTGCCCGCAGGTCCCCA 0.592000 9 14 0 0 1 0 0 EPN1 29924 broad.mit.edu 37 19 56190168 56190168 + Missense_Mutation SNP A A G TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr19:56190168A>G ENST00000411543.2 + 3 1055 c.508A>G c.(508-510)Atg>Gtg p.M170V EPN1_ENST00000085079.7_Missense_Mutation_p.M59V|EPN1_ENST00000270460.6_Missense_Mutation_p.M59V NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 59 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) GATCATGAGCATGATCTGGAA 0.592000 13 50 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 977319 977319 + Silent SNP A A G TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr12:977319A>G ENST00000537687.1 + 9 3070 c.2427A>G c.(2425-2427)gtA>gtG p.V809V WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Silent_p.V894V|WNK1_ENST00000574564.1_Silent_p.V108V|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000315939.6_Intron NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 0 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CCAGTAGAGTAACTGGAGAGT 0.478000 19 37 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55221710 55221710 + Missense_Mutation SNP C C T TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr7:55221710C>T ENST00000275493.2 + 7 931 c.754C>T c.(754-756)Cgc>Tgc p.R252C EGFR_ENST00000344576.2_Missense_Mutation_p.R252C|EGFR_ENST00000454757.2_Missense_Mutation_p.R199C|EGFR_ENST00000442591.1_Missense_Mutation_p.R252C|EGFR_ENST00000342916.3_Missense_Mutation_p.R252C|EGFR_ENST00000455089.1_Missense_Mutation_p.R207C|EGFR_ENST00000420316.2_Missense_Mutation_p.R252C 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) 207 2919 0 0 1 0 0 TEK 7010 broad.mit.edu 37 9 27169602 27169602 + Silent SNP G G A TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr9:27169602G>A ENST00000380036.4 + 4 1045 c.603G>A c.(601-603)tcG>tcA p.S201S TEK_ENST00000519097.1_Silent_p.S97S|TEK_ENST00000406359.4_Silent_p.S201S NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 201 angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.S201S(1) breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) TCTTCACCTCGGCCTTCACCA 0.473000 41 20 0 0 1 0 0 KRT34 3885 broad.mit.edu 37 17 39538446 39538446 + Missense_Mutation SNP G G A TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr17:39538446G>A ENST00000394001.1 - 1 209 c.179C>T c.(178-180)tCc>tTc p.S60F NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 60 Head. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) GCAGGGCCGGGAGGAGCAGCT 0.627000 27 57 0 0 1 0 0 BAG3 9531 broad.mit.edu 37 10 121429423 121429423 + Missense_Mutation SNP G G A TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr10:121429423G>A ENST00000369085.3 + 2 547 c.241G>A c.(241-243)Gaa>Aaa p.E81K NM_004281.3 NP_004272.2 O95817 BAG3_HUMAN BCL2-associated athanogene 3 81 anti-apoptosis|apoptosis|protein folding cytosol endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) GCCTGCTAGGGAAGGCCACCC 0.572000 42 25 0 0 1 0 0 C8A 731 broad.mit.edu 37 1 57347157 57347157 + Silent SNP C C T TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr1:57347157C>T ENST00000361249.3 + 5 600 c.504C>T c.(502-504)taC>taT p.Y168Y NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 168 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 AGAGTGTGTACGATGCCAGTT 0.473000 41 60 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179500730 179500730 + Silent SNP G G A TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr2:179500730G>A ENST00000589042.1 - 226 41792 c.41568C>T c.(41566-41568)aaC>aaT p.N13856N TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.N12215N|TTN_ENST00000460472.2_Silent_p.N4791N|TTN_ENST00000342992.6_Silent_p.N11288N|TTN_ENST00000342175.6_Silent_p.N4983N|TTN_ENST00000359218.5_Silent_p.N4916N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12215 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTTGTTGGCGTTTTCCACAG 0.453000 24 58 0 0 1 0 0 SFRP2 6423 broad.mit.edu 37 4 154702729 154702729 + Silent SNP G G A TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr4:154702729G>A ENST00000274063.4 - 3 1046 c.762C>T c.(760-762)aaC>aaT p.N254N NM_003013.2 NP_003004.1 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 254 NTR. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 16 all_hematologic(180;0.093) Renal(120;0.117) GATAGGGCGCGTTGATGTCGT 0.557000 27 34 0 0 1 0 0 FAP 2191 broad.mit.edu 37 2 163030242 163030242 + Missense_Mutation SNP C C G TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr2:163030242C>G ENST00000188790.4 - 23 2232 c.2025G>C c.(2023-2025)gaG>gaC p.E675D FAP_ENST00000443424.1_Missense_Mutation_p.E650D NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 675 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 CCTTATAGTGCTCAAGATTAT 0.299000 59 91 0 0 1 0 0 FRMD3 257019 broad.mit.edu 37 9 86153116 86153116 + Missense_Mutation SNP C C T TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr9:86153116C>T ENST00000304195.3 - 1 237 c.31G>A c.(31-33)Ggc>Agc p.G11S FRMD3_ENST00000376438.1_Missense_Mutation_p.G11S NM_001244960.1|NM_174938.5 NP_001231889.1|NP_777598.3 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 11 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 30 GTCCTCCTGCCTCTCGGCACA 0.652000 4 7 0 0 1 0 0 GPATCH2L 55668 broad.mit.edu 37 14 76621051 76621051 + Silent SNP C C T TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr14:76621051C>T ENST00000261530.7 + 2 411 c.345C>T c.(343-345)gaC>gaT p.D115D GPATCH2L_ENST00000312858.5_Silent_p.D115D|GPATCH2L_ENST00000556663.1_Silent_p.D115D|GPATCH2L_ENST00000557263.1_Silent_p.D115D NM_017926.2 NP_060396.2 G patch domain containing 2-like ATGAATCTGACTCCTTTACTG 0.493000 28 36 0 0 1 0 0 CXCR1 3577 broad.mit.edu 37 2 219029011 219029011 + Silent SNP G G A TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr2:219029011G>A ENST00000295683.2 - 2 1044 c.924C>T c.(922-924)atC>atT p.I308I NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 308 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 AATTTTGGCCGATGAAGGCGT 0.537000 5 70 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111758395 111758395 + Missense_Mutation SNP C C T TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr12:111758395C>T ENST00000261726.6 + 17 2736 c.2582C>T c.(2581-2583)gCg>gTg p.A861V NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 861 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 ACGGCCGAGGCGGGCGCGCGG 0.746000 4 2 0 0 1 0 0 OGFR 11054 broad.mit.edu 37 20 61444725 61444725 + Silent SNP G G A rs74520364 TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr20:61444725G>A ENST00000370461.1 + 5 3879 c.1602G>A c.(1600-1602)ccG>ccA p.P534P OGFR_ENST00000370468.3_Intron|OGFR_ENST00000290291.6_Silent_p.P586P Q9NZT2 OGFR_HUMAN opioid growth factor receptor 586 7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK]. regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 17 Breast(26;3.65e-08) GCCCCAGCCCGGCAGGACCTA 0.741000 3 18 0 0 1 0 0 CEACAM8 1088 broad.mit.edu 37 19 43098946 43098946 + Missense_Mutation SNP C C T rs143763173 TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr19:43098946C>T ENST00000244336.5 - 1 136 c.35G>A c.(34-36)cGc>cAc p.R12H LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12H NM_001816.3 NP_001807.2 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion molecule 8 12 immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) CCAGGGGATGCGCCATCTGCA 0.612000 5 167 0 0 1 0 0 CWC25 54883 broad.mit.edu 37 17 36959088 36959088 + Missense_Mutation SNP C C T TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr17:36959088C>T ENST00000225428.4 - 9 1325 c.1028G>A c.(1027-1029)cGa>cAa p.R343Q CWC25_ENST00000536127.1_Missense_Mutation_p.R280Q NM_017748.3 NP_060218.1 Q9NXE8 CWC25_HUMAN CWC25 spliceosome-associated protein homolog (S. cerevisiae) 343 central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 14 TTGCCGTTTTCGCTCTAATTC 0.483000 30 48 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130927095 130927095 + Missense_Mutation SNP A A T TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr12:130927095A>T ENST00000261655.4 - 8 914 c.751T>A c.(751-753)Ttc>Atc p.F251I RIMBP2_ENST00000536002.1_Missense_Mutation_p.F159I|RIMBP2_ENST00000535703.1_Missense_Mutation_p.F159I NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 251 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TGGTTGATGAAGTTCTGATCC 0.607000 8 82 0 0 1 0 0 NDRG4 65009 broad.mit.edu 37 16 58545427 58545427 + Missense_Mutation SNP G G A TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr16:58545427G>A ENST00000394282.4 + 16 1530 c.1123G>A c.(1123-1125)Gag>Aag p.E375K NDRG4_ENST00000569923.1_Missense_Mutation_p.E268K|NDRG4_ENST00000258187.5_Missense_Mutation_p.E355K|NDRG4_ENST00000394279.2_Missense_Mutation_p.E355K|NDRG4_ENST00000563799.1_Missense_Mutation_p.E341K|NDRG4_ENST00000570248.1_Missense_Mutation_p.E336K|NDRG4_ENST00000568640.1_Missense_Mutation_p.E341K|NDRG4_ENST00000562999.1_Missense_Mutation_p.E311K|NDRG4_ENST00000356752.4_Missense_Mutation_p.E353K|NDRG4_ENST00000566192.1_Missense_Mutation_p.E323K NM_001130487.1 NP_001123959.1 Q9ULP0 NDRG4_HUMAN NDRG family member 4 336 cell differentiation|cell growth|multicellular organismal development|response to stress cytoplasm breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 CACCCACTCAGAGAGCAGCGA 0.682000 26 42 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197313560 197313560 + Missense_Mutation SNP A A C TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr1:197313560A>C ENST00000367400.3 + 3 937 c.802A>C c.(802-804)Agt>Cgt p.S268R CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.S199R|CRB1_ENST00000538660.1_Missense_Mutation_p.S268R NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 268 EGF-like 7; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TGAGTGTGCCAGTCAACCTTG 0.512000 52 101 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161015068 161015068 + Missense_Mutation SNP A A G TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr6:161015068A>G ENST00000447678.1 - 23 3671 c.3551T>C c.(3550-3552)gTc>gCc p.V1184A LPA_ENST00000316300.5_Missense_Mutation_p.V1184A NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3692 Kringle 11. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CCTTCCTGTGACAGTGGTAGA 0.478000 4 100 0 0 1 0 0 BPHL 670 broad.mit.edu 37 6 3140630 3140630 + Silent SNP C C T TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr6:3140630C>T ENST00000380375.3 + 7 1268 c.624C>T c.(622-624)tgC>tgT p.C208C BPHL_ENST00000380368.2_3'UTR|BPHL_ENST00000434640.1_Silent_p.C208C|RP1-40E16.11_ENST00000447644.1_RNA|BPHL_ENST00000380379.5_Silent_p.C225C Q86WA6 BPHL_HUMAN biphenyl hydrolase-like (serine hydrolase) 225 cellular amino acid metabolic process|response to toxin mitochondrion hydrolase activity endometrium(4)|kidney(1)|large_intestine(2)|lung(6) 13 Ovarian(93;0.0386) all_hematologic(90;0.108) GTAACATCTGCCGGCACCTGC 0.587000 51 97 0 0 1 0 0 PTCHD4 442213 broad.mit.edu 37 6 47846506 47846506 + Missense_Mutation SNP C C T TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr6:47846506C>T ENST00000339488.4 - 3 2107 c.2074G>A c.(2074-2076)Gtc>Atc p.V692I NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 692 integral to membrane hedgehog receptor activity p.V692L(2)|p.V692I(1) ATTGAGGTGACGCTAAGAATT 0.453000 10 9 0 0 1 0 0 SLC17A7 57030 broad.mit.edu 37 19 49934335 49934335 + Silent SNP G G A TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr19:49934335G>A ENST00000221485.3 - 11 1497 c.1326C>T c.(1324-1326)aaC>aaT p.N442N SLC17A7_ENST00000600601.1_Silent_p.N375N|SLC17A7_ENST00000543531.1_Silent_p.N430N NM_020309.3 NP_064705.1 Q9P2U7 VGLU1_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 7 442 glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) TGCCCACGCCGTTGGAGATGC 0.622000 8 29 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26700046 26700046 + Silent SNP C C T TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr2:26700046C>T ENST00000272371.2 - 21 2643 c.2517G>A c.(2515-2517)gcG>gcA p.A839A OTOF_ENST00000402415.3_Silent_p.A149A|OTOF_ENST00000338581.6_Silent_p.A92A|OTOF_ENST00000403946.3_Silent_p.A839A|OTOF_ENST00000339598.3_Silent_p.A92A NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 839 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCACCTCGTCCGCCAGGAAGC 0.677000 8 5 0 0 1 0 0 EDEM2 55741 broad.mit.edu 37 20 33703560 33703560 + Nonsense_Mutation SNP G G T TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr20:33703560G>T ENST00000374492.3 - 11 1518 c.1413C>A c.(1411-1413)taC>taA p.Y471* EDEM2_ENST00000541621.1_Nonsense_Mutation_p.Y250*|EDEM2_ENST00000542871.1_Nonsense_Mutation_p.Y195*|EDEM2_ENST00000374491.2_Nonsense_Mutation_p.Y434* NM_018217.2 NP_060687.2 Q9BV94 EDEM2_HUMAN ER degradation enhancer, mannosidase alpha-like 2 471 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 22 BRCA - Breast invasive adenocarcinoma(18;0.00936) TGTTGAAGATGTACCCCCCAG 0.587000 22 66 4.35082e-09 4.55476e-09 1 1 0 MATN4 8785 broad.mit.edu 37 20 43926951 43926951 + Missense_Mutation SNP G G A TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr20:43926951G>A ENST00000537548.1 - 8 1529 c.1285C>T c.(1285-1287)Cgg>Tgg p.R429W MATN4_ENST00000342716.4_Missense_Mutation_p.R429W|MATN4_ENST00000353917.5_Missense_Mutation_p.R347W|MATN4_ENST00000372753.1_Missense_Mutation_p.R280W|MATN4_ENST00000360607.5_Missense_Mutation_p.R388W|MATN4_ENST00000372756.1_Missense_Mutation_p.R429W|MATN4_ENST00000372751.4_Missense_Mutation_p.R280W|MATN4_ENST00000372754.1_Missense_Mutation_p.R470W O95460 MATN4_HUMAN matrilin 4 470 VWFA 2. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) ACCATGTGCCGCAACGCCAGC 0.672000 21 28 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 62 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155505468 155505468 + Silent SNP A A G TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr4:155505468A>G ENST00000302053.3 - 6 2487 c.2409T>C c.(2407-2409)taT>taC p.Y803Y NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 803 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) AGCCTCCCCCATAGACTTCTG 0.507000 37 64 0 0 1 0 0 CRHR2 1395 broad.mit.edu 37 7 30721825 30721825 + Missense_Mutation SNP C C A TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr7:30721825C>A ENST00000471646.1 - 1 489 c.72G>T c.(70-72)ttG>ttT p.L24F CRHR2_ENST00000506074.2_Missense_Mutation_p.L24F|CRHR2_ENST00000348438.4_Intron|CRHR2_ENST00000341843.4_Intron NM_001202482.1|NM_001202483.1|NM_001883.4 NP_001189411.1|NP_001189412.1|NP_001874.2 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 24 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CCCAGCCGTCCAAGAGCAGCT 0.736000 6 17 0.00198382 0.00204486 1 1 0 DNAH17 8632 broad.mit.edu 37 17 76503840 76503840 + Silent SNP G G A TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr17:76503840G>A ENST00000389840.5 - 28 4396 c.4272C>T c.(4270-4272)caC>caT p.H1424H DNAH17_ENST00000585328.1_Silent_p.H1425H dynein, axonemal, heavy chain 17 p.H1425H(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GGTGCGGCTCGTGCTGGAATT 0.552000 5 5 0 0 1 0 0 DHX29 54505 broad.mit.edu 37 5 54586064 54586064 + Missense_Mutation SNP T T C TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr5:54586064T>C ENST00000251636.5 - 7 1037 c.889A>G c.(889-891)Ata>Gta p.I297V RP11-506H20.1_ENST00000506435.1_RNA NM_019030.2 NP_061903.2 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 297 ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) AATTTCCTTATTTTTTCCTGA 0.358000 26 32 0 0 1 0 0 YBX2 51087 broad.mit.edu 37 17 7192121 7192121 + Missense_Mutation SNP T T G TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr17:7192121T>G ENST00000007699.5 - 8 1144 c.1081A>C c.(1081-1083)Acc>Ccc p.T361P NM_015982.3 NP_057066.2 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 361 Required for mRNA-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3) 12 TCCAGGATGGTGGTGGTGGGG 0.542000 4 42 0 0 1 0 0 KRT5 3852 broad.mit.edu 37 12 52910609 52910609 + Silent SNP G G A TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr12:52910609G>A ENST00000252242.4 - 7 1641 c.1251C>T c.(1249-1251)gcC>gcT p.A417A NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 417 Coil 2.|Rod. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) CACGCTGCTCGGCATCCGCAA 0.617000 37 57 0 0 1 0 0 SULT1E1 6783 broad.mit.edu 37 4 70709895 70709895 + Silent SNP C C T TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr4:70709895C>T ENST00000226444.3 - 7 868 c.756G>A c.(754-756)tcG>tcA p.S252S NM_005420.2 NP_005411.1 P49888 ST1E1_HUMAN sulfotransferase family 1E, estrogen-preferring, member 1 252 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 TCATGAAGGGCGACAATTTCT 0.393000 50 77 0 0 1 0 0 CCAR1 55749 broad.mit.edu 37 10 70509372 70509372 + Nonsense_Mutation SNP C C T TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr10:70509372C>T ENST00000265872.6 + 10 1167 c.1048C>T c.(1048-1050)Cga>Tga p.R350* CCAR1_ENST00000543719.1_Nonsense_Mutation_p.R335*|CCAR1_ENST00000535016.1_Nonsense_Mutation_p.R335* NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 350 Arg-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 AGAGCGAGAGCGATCACCTCG 0.463000 39 28 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 86940658 86940658 + Nonsense_Mutation SNP G G A TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr15:86940658G>A ENST00000441037.2 + 17 2393 c.2298G>A c.(2296-2298)tgG>tgA p.W766* AGBL1_ENST00000421325.2_Nonsense_Mutation_p.W766*|AGBL1_ENST00000389298.3_Nonsense_Mutation_p.W497* NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 766 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 ATGCCAGTTGGGTGATGAAGG 0.473000 21 30 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201478598 201478598 + Missense_Mutation SNP C C T TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr2:201478598C>T ENST00000374700.2 + 15 1761 c.1520C>T c.(1519-1521)gCg>gTg p.A507V AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 507 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity p.A507V(1) breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TTGGGCTCGGCGCCAGGTGGG 0.473000 28 36 0 0 1 0 0 PRPF19 27339 broad.mit.edu 37 11 60658695 60658695 + Silent SNP G G A TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr11:60658695G>A ENST00000227524.4 - 16 1663 c.1458C>T c.(1456-1458)caC>caT p.H486H NM_014502.4 NP_055317.1 Q9UMS4 PRP19_HUMAN pre-mRNA processing factor 19 486 DNA repair|protein polyubiquitination|spliceosome assembly catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity p.H486H(1) haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 22 TGAACTTGGCGTGATGCCCGA 0.542000 14 23 0 0 1 0 0 FAM167B 84734 broad.mit.edu 37 1 32713189 32713189 + Missense_Mutation SNP G G A TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr1:32713189G>A ENST00000373582.3 + 1 356 c.167G>A c.(166-168)cGc>cAc p.R56H NM_032648.2 NP_116037.2 Q9BTA0 F167B_HUMAN family with sequence similarity 167, member B 56 p.R56H(1) endometrium(1)|large_intestine(1)|lung(1)|ovary(2) 5 CAGGCCTGGCGCAGGGCCCAA 0.637000 17 24 0 0 1 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67318812 67318812 + Missense_Mutation SNP C C T TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr16:67318812C>T ENST00000360461.5 + 12 4424 c.1889C>T c.(1888-1890)gCg>gTg p.A630V PLEKHG4_ENST00000427155.2_Missense_Mutation_p.A630V|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.A630V|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.A549V NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 630 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) TGGGCCTGGGCGCGGTGCCAG 0.662000 12 26 0 0 1 0 0 SERPINB2 5055 broad.mit.edu 37 18 61558848 61558848 + Splice_Site SNP T T A TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr18:61558848T>A ENST00000457692.1 + 3 501 c.e3+2 SERPINB2_ENST00000299502.4_Splice_Site NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) ATGGCCAAGGTGAGTTTGAGC 0.522000 14 26 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185985120 185985120 + Missense_Mutation SNP C C T TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr1:185985120C>T ENST00000271588.4 + 32 5169 c.4940C>T c.(4939-4941)aCg>aTg p.T1647M HMCN1_ENST00000367492.2_Missense_Mutation_p.T1647M NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1647 Ig-like C2-type 14. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AACTTGGCCACGCCTTTGAAT 0.403000 20 45 0 0 1 0 0 CCDC8 83987 broad.mit.edu 37 19 46915004 46915004 + Missense_Mutation SNP G G A TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr19:46915004G>A ENST00000307522.3 - 1 1837 c.1064C>T c.(1063-1065)gCt>gTt p.A355V NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 355 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) GTTATCTGCAGCCTCTGCCCC 0.617000 51 150 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128685 45128685 + RNA SNP T T C rs145089594 by1000genomes TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr17:45128685T>C ENST00000575173.1 - 0 418 TTCCAGGATATGGCTATACTG 0.303000 4 133 0 0 1 0 0 CCDC39 339829 broad.mit.edu 37 3 180359940 180359940 + Missense_Mutation SNP C C T TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr3:180359940C>T ENST00000273654.4 - 19 2586 c.1967G>A c.(1966-1968)cGa>cAa p.R656Q CCDC39_ENST00000442201.2_Missense_Mutation_p.R572Q Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 572 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) AAGCATTTCTCGAGTACGCTT 0.323000 16 25 0 0 1 0 0 PTPN13 0 broad.mit.edu 37 4 87696751 87696751 + Missense_Mutation SNP A A T TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr4:87696751A>T ENST00000436978.1 + 35 6332 c.5852A>T c.(5851-5853)gAa>gTa p.E1951V PTPN13_ENST00000511467.1_Missense_Mutation_p.E1951V|PTPN13_ENST00000411767.2_Missense_Mutation_p.E1946V|PTPN13_ENST00000427191.2_Missense_Mutation_p.E1927V|PTPN13_ENST00000316707.6_Missense_Mutation_p.E1755V NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 1946 PDZ 5. cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) ACCTTGGAGGAAGTTAACAGA 0.418000 15 19 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61613107 61613107 + Silent SNP C C T TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr17:61613107C>T ENST00000583023.1 + 6 1190 c.1179C>T c.(1177-1179)taC>taT p.Y393Y KCNH6_ENST00000580652.1_Silent_p.Y393Y|KCNH6_ENST00000581784.1_Silent_p.Y393Y|KCNH6_ENST00000456941.2_Silent_p.Y393Y|KCNH6_ENST00000314672.5_Silent_p.Y393Y NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 393 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) TGGACCGCTACTCTGAGTATG 0.607000 28 42 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23522420 23522420 + Silent SNP G G A TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr5:23522420G>A ENST00000296682.3 + 7 698 c.516G>A c.(514-516)agG>agA p.R172R NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 172 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TAGAACTCAGGAAGAAGGAGA 0.428000 HNSCC(3;0.000094) 38 67 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23110996 23110996 + Missense_Mutation SNP C C T TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr1:23110996C>T ENST00000400191.3 + 3 256 c.238C>T c.(238-240)Cgc>Tgc p.R80C EPHB2_ENST00000374630.3_Missense_Mutation_p.R80C|EPHB2_ENST00000544305.1_Missense_Mutation_p.R80C|EPHB2_ENST00000374632.3_Missense_Mutation_p.R80C|EPHB2_ENST00000374627.1_Missense_Mutation_p.R74C NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 80 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GTTTATCCGGCGCCGTGGCGC 0.577000 16 18 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846121 18846121 + RNA SNP C C T rs4302302 TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr22:18846121C>T ENST00000412938.1 + 0 3479 CACGCACTGGCGCACGATGTA 0.617000 3 26 0 0 1 0 0 FBXO31 79791 broad.mit.edu 37 16 87377354 87377354 + Silent SNP G G A TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr16:87377354G>A ENST00000311635.7 - 4 519 c.507C>T c.(505-507)atC>atT p.I169I NM_024735.3 NP_079011.3 Q5XUX0 FBX31_HUMAN F-box protein 31 169 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0272) TCCACCCGATGATGAACAGGC 0.617000 16 26 0 0 1 0 0 RAB36 9609 broad.mit.edu 37 22 23503697 23503697 + Silent SNP G G T TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr22:23503697G>T ENST00000263116.2 + 11 988 c.948G>T c.(946-948)ggG>ggT p.G316G RAB36_ENST00000341989.4_Silent_p.G294G NM_004914.2 NP_004905.2 O95755 RAB36_HUMAN RAB36, member RAS oncogene family 316 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.155) AAATGGAAGGGAGTCCGCCCG 0.607000 3 15 0.217242 0.217242 1 1 0 GCC2 9648 broad.mit.edu 37 2 109086787 109086790 + Frame_Shift_Del DEL CAAA CAAA - TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr2:109086787_109086790delCAAA ENST00000309863.6 + 6 1716_1719 c.1002_1005delCAAA c.(1000-1005)gtfs p.VK334fs NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 334 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 ATGAAAAAGTCAAACACTTAGAAG 0.294 13 38 --- --- --- --- NBEAL2 23218 broad.mit.edu 37 3 47040555 47040555 + Frame_Shift_Del DEL C C - TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr3:47040555delC ENST00000450053.3 + 24 3670 c.3491delC c.(3490-3492)gcfs p.A1164fs NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1164 Leu-rich. binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) GTGCTACTGGCCCTGCTAGTG 0.662 OREG0015546 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- SLC12A7 10723 broad.mit.edu 37 5 1078124 1078125 + Splice_Site INS - - GCAG TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr5:1078124_1078125insGCAG ENST00000264930.5 - 12 1498 c.e12-2 NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) TCCCCGAACCTgcaggcaggcg 0.673 3 6 --- --- --- --- TAF2 6873 broad.mit.edu 37 8 120797466 120797468 + In_Frame_Del DEL CTT CTT - TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr8:120797466_120797468delCTT ENST00000378164.2 - 15 2130_2132 c.1832_1834delAAG c.(1831-1836)gtt>g p.EV611del NM_003184.3 NP_003175.1 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 611 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TCCATATCAACTTCTTCTCCATT 0.305 29 70 --- --- --- --- MBL1P 0 broad.mit.edu 37 10 81680655 81680656 + RNA INS - - A TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr10:81680655_81680656insA ENST00000480805.1 + 0 722_723 NR_002724.2 AGCTTTTGGGGAAAAAAAAAAG 0.545 2 4 --- --- --- --- WDR20 91833 broad.mit.edu 37 14 102676161 102676162 + Frame_Shift_Del DEL GA GA - TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr14:102676161_102676162delGA ENST00000335263.5 + 3 1734_1735 c.1654_1655delGA c.(1654-1656)gfs p.E552fs WDR20_ENST00000424963.2_Frame_Shift_Del_p.E428fs|WDR20_ENST00000342702.3_Frame_Shift_Del_p.E552fs|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000556807.1_Frame_Shift_Del_p.E491fs|WDR20_ENST00000556511.2_Frame_Shift_Del_p.E491fs|WDR20_ENST00000545563.1_Frame_Shift_Del_p.E379fs|WDR20_ENST00000499851.2_Frame_Shift_Del_p.E295fs|WDR20_ENST00000454394.2_Frame_Shift_Del_p.E583fs NM_181291.2 NP_851808.1 Q8TBZ3 WDR20_HUMAN WD repeat domain 20 552 breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 TGCTTGTCAGGAGGGATTTATT 0.391 36 51 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684390 26684391 + Frame_Shift_Ins INS - - C rs148075904 by1000genomes TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654fabe2-2ea1-41b5-aa4e-4df8b97d7552 b2b78f2f-604d-42fd-983e-42d431e68e4e g.chr17:26684390_26684391insC ENST00000540200.1 - 2 80_81 c.81_82insG c.(79-84)aacgctfs p.NA27fs POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 28 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) GCACAGAGCGGCTTTGCCACCG 0.762 6 8 --- --- --- ---