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 EMILIN2 84034 broad.mit.edu 37 18 2913162 2913162 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr18:2913162C>T ENST00000254528.3 + 8 3081 c.2922C>T c.(2920-2922)aaC>aaT p.N974N EMILIN2_ENST00000308080.5_3'UTR NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 974 C1q. cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) CGGTCTCCAACGCCAGCGTGG 0.642000 8 42 0 0 0.004482 0 0 ADNP 23394 broad.mit.edu 37 20 49510683 49510683 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr20:49510683G>C ENST00000396029.3 - 5 1135 c.568C>G c.(568-570)Cag>Gag p.Q190E ADNP_ENST00000349014.3_Missense_Mutation_p.Q190E|ADNP_ENST00000371602.4_Missense_Mutation_p.Q190E|ADNP_ENST00000396032.3_Missense_Mutation_p.Q190E NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 190 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 GCCACATGCTGAAAATGTTCC 0.448000 24 82 0 0 0.003954 0 0 AHNAK 79026 broad.mit.edu 37 11 62297749 62297749 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:62297749C>T ENST00000378024.4 - 5 4414 c.4140G>A c.(4138-4140)ctG>ctA p.L1380L AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1380 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TGGGCATCTTCAGGTGCCAAT 0.498000 81 236 0 0 0.014410 0 0 TMEM132D 121256 broad.mit.edu 37 12 129569056 129569056 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:129569056G>C ENST00000422113.2 - 6 1961 c.1635C>G c.(1633-1635)atC>atG p.I545M TMEM132D_ENST00000389441.4_Missense_Mutation_p.I83M NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 545 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TGCTGGAGACGATGGGCACTC 0.592000 5 11 0 0 0.000602 0 0 MAML3 55534 broad.mit.edu 37 4 140811093 140811093 + Silent SNP C C T rs72161425 TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:140811093C>T ENST00000509479.2 - 2 2353 c.1497G>A c.(1495-1497)caG>caA p.Q499Q MAML3_ENST00000398940.1_Intron|MAML3_ENST00000327122.5_Silent_p.Q343Q NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 499 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.527000 4 29 0 0 0.009096 0 0 POLG 5428 broad.mit.edu 37 15 89862269 89862269 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:89862269C>T ENST00000268124.5 - 20 3499 c.3166G>A c.(3166-3168)Gaa>Aaa p.E1056K POLG_ENST00000442287.2_Missense_Mutation_p.E1056K NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 1056 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) TTGAACATTTCTGACTCTGTG 0.562000 DNA polymerases (catalytic subunits) 6 93 0 0 0.001168 0 0 AVL9 23080 broad.mit.edu 37 7 32612918 32612918 + Missense_Mutation SNP G G C rs139006890 TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:32612918G>C ENST00000318709.4 + 12 1679 c.1458G>C c.(1456-1458)gaG>gaC p.E486D AVL9_ENST00000409301.1_Missense_Mutation_p.E486D|AVL9_ENST00000404479.1_Intron NM_015060.1 NP_055875.1 Q8NBF6 AVL9_HUMAN AVL9 homolog (S. cerevisiase) 486 integral to membrane endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 ACGTGACTGAGAATCGGGATG 0.557000 14 36 0 0 0.004990 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 4 67 0 0 0.001984 0 0 CAND1 55832 broad.mit.edu 37 12 67699870 67699870 + Nonsense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:67699870C>T ENST00000545606.1 + 10 2859 c.2422C>T c.(2422-2424)Cga>Tga p.R808* NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 808 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) TGCCCTTACTCGAGCATGCCC 0.443000 31 50 0 0 0.009535 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140743929 140743929 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:140743929G>A ENST00000518069.1 + 1 32 c.32G>A c.(31-33)gGa>gAa p.G11E PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGGCTGCGGAGAGCTGCTG 0.582000 6 20 0 0 0.001168 0 0 LIPI 149998 broad.mit.edu 37 21 15561416 15561416 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr21:15561416C>G ENST00000344577.2 - 2 459 c.434G>C c.(433-435)aGa>aCa p.R145T LIPI_ENST00000536861.1_Missense_Mutation_p.R124T NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 124 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TTTAACTGCTCTATTATAAAT 0.338000 5 43 0 0 0.000602 0 0 XKR7 343702 broad.mit.edu 37 20 30584822 30584822 + Silent SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr20:30584822C>G ENST00000217299.3 + 3 1476 c.1302C>G c.(1300-1302)gtC>gtG p.V434V NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 434 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TCATGTGTGTCTACTACTGTC 0.587000 15 46 0 0 0.006122 0 0 IRS1 3667 broad.mit.edu 37 2 227660640 227660640 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:227660640C>T ENST00000305123.4 - 1 3835 c.2815G>A c.(2815-2817)Gag>Aag p.E939K NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 939 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) ATGTACTCCTCAGTGCCAGTC 0.652000 19 82 0 0 0.007413 0 0 ASXL2 55252 broad.mit.edu 37 2 25965130 25965130 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:25965130G>A ENST00000435504.4 - 13 4369 c.4076C>T c.(4075-4077)tCa>tTa p.S1359L ASXL2_ENST00000404843.1_Missense_Mutation_p.S842L|ASXL2_ENST00000272341.4_Missense_Mutation_p.S842L|ASXL2_ENST00000336112.4_Missense_Mutation_p.S1331L Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 1359 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACTGAAAATGACATGACATC 0.493000 9 21 0 0 0.004482 0 0 AHNAK 79026 broad.mit.edu 37 11 62298201 62298201 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:62298201C>G ENST00000378024.4 - 5 3962 c.3688G>C c.(3688-3690)Gaa>Caa p.E1230Q AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1230 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CCTTTGATTTCAACATCTGGC 0.483000 89 285 0 0 0.014410 0 0 KRT10 3858 broad.mit.edu 37 17 38978336 38978336 + Nonsense_Mutation SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:38978336C>A ENST00000269576.5 - 1 511 c.502G>T c.(502-504)Gaa>Taa p.E168* TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 168 Coil 1A.|Gly-rich.|Rod. epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) TTTGATTCTTCCAGAGCCCGA 0.463000 32 109 1.55811e-20 1.69469e-20 0.008361 1 0 NFKBIL1 4795 broad.mit.edu 37 6 31525604 31525604 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:31525604G>A ENST00000376148.4 + 3 648 c.534G>A c.(532-534)caG>caA p.Q178Q NFKBIL1_ENST00000376145.4_Intron NM_005007.3 NP_004998.3 Q9UBC1 IKBL1_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 178 cytoplasmic sequestering of transcription factor protein binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 ACGAGTGGCAGGAAGTCATGG 0.567000 4 30 0 0 0.009096 0 0 VCL 7414 broad.mit.edu 37 10 75877857 75877857 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:75877857C>T ENST00000211998.4 + 22 3429 c.3335C>T c.(3334-3336)gCt>gTt p.A1112V VCL_ENST00000372755.3_Missense_Mutation_p.A1044V|VCL_ENST00000417648.2_Missense_Mutation_p.A305V NM_014000.2 NP_054706.1 P18206 VINC_HUMAN vinculin 1112 C-terminal tail. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Prostate(51;0.0112) GCTGAAGCTGCTTCAATCAAA 0.517000 4 69 0 0 0.009096 0 0 SLC24A2 25769 broad.mit.edu 37 9 19619622 19619622 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:19619622G>C ENST00000341998.2 - 3 1099 c.1038C>G c.(1036-1038)atC>atG p.I346M SLC24A2_ENST00000286344.3_Missense_Mutation_p.I346M NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 346 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) TGAGTTGGAAGATGCTATTCC 0.507000 16 105 0 0 0.006122 0 0 TMEM106B 54664 broad.mit.edu 37 7 12254482 12254482 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:12254482G>A ENST00000396667.2 + 3 368 c.46G>A c.(46-48)Gat>Aat p.D16N TMEM106B_ENST00000396668.3_Missense_Mutation_p.D16N NM_018374.3 NP_060844.2 Q9NUM4 T106B_HUMAN transmembrane protein 106B 16 integral to membrane NS(1)|endometrium(8)|large_intestine(2)|lung(7) 18 UCEC - Uterine corpus endometrioid carcinoma (126;0.185) AAGCAAAGAAGATGCTTATGA 0.353000 11 31 0 0 0.010729 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119135106 119135106 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:119135106G>C ENST00000264245.4 + 12 4862 c.4330G>C c.(4330-4332)Gaa>Caa p.E1444Q NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 1444 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 GAGGCAAATAGAATGATTTCG 0.463000 14 31 0 0 0.004990 0 0 SPTA1 6708 broad.mit.edu 37 1 158641186 158641186 + Nonsense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:158641186G>A ENST00000368148.3 - 12 1726 c.1546C>T c.(1546-1548)Cag>Tag p.Q516* SPTA1_ENST00000368147.3_Nonsense_Mutation_p.Q516* NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 516 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.Q516K(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCATGCTTCTGAAGAAGGGCT 0.488000 9 36 0 0 0.006214 0 0 ABCD2 225 broad.mit.edu 37 12 39947792 39947792 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:39947792C>G ENST00000308666.3 - 10 2280 c.2145G>C c.(2143-2145)caG>caC p.Q715H NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 715 fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 CATTGAGTCTCTGCTGCATTT 0.343000 6 37 0 0 0.001168 0 0 YARS 8565 broad.mit.edu 37 1 33263435 33263435 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:33263435C>T ENST00000373477.4 - 5 1428 c.520G>A c.(520-522)Gaa>Aaa p.E174K NM_003680.3 NP_003671.1 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 174 apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) AAATACTCTTCATCCAAAGCC 0.423000 13 31 0 0 0.002450 0 0 GPR124 25960 broad.mit.edu 37 8 37687368 37687368 + Splice_Site SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:37687368G>T ENST00000315215.7 + 6 917 c.e6-1 GPR124_ENST00000412232.2_Splice_Site Q96PE1 GP124_HUMAN G protein-coupled receptor 124 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) CCACCCTGCAGGGACTTGGGC 0.667000 11 39 5.50884e-06 5.78475e-06 0.013537 1 0 ACSS3 79611 broad.mit.edu 37 12 81613830 81613830 + Silent SNP C C A rs142377880 TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:81613830C>A ENST00000548058.1 + 11 2399 c.1489C>A c.(1489-1491)Cgg>Agg p.R497R ACSS3_ENST00000261206.3_Silent_p.R496R|ACSS3_ENST00000548324.1_Silent_p.R179R Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 497 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 ACTGAAGGCTCGGTGTTTAGG 0.269000 7 48 4.68919e-08 4.96695e-08 0.008291 1 0 FAT4 79633 broad.mit.edu 37 4 126238052 126238052 + Silent SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:126238052G>T ENST00000394329.3 + 1 499 c.486G>T c.(484-486)tcG>tcT p.S162S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 162 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CCACCGACTCGGACATCGGCT 0.617000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 24 0.00909568 0.00929441 0.009096 1 0 TRPM8 79054 broad.mit.edu 37 2 234888876 234888876 + Silent SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:234888876G>T ENST00000324695.4 + 18 2440 c.2400G>T c.(2398-2400)gtG>gtT p.V800V TRPM8_ENST00000433712.2_Silent_p.V378V NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 800 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) TGTGGAATGTGATGGACACGC 0.408000 6 25 0.00198382 0.00203057 0.001984 1 0 ASXL1 171023 broad.mit.edu 37 20 31022345 31022345 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr20:31022345C>T ENST00000375687.4 + 13 2254 c.1830C>T c.(1828-1830)ggC>ggT p.G610G ASXL1_ENST00000306058.5_Silent_p.G605G NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 610 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.Q592fs*5(1)|p.G610G(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 GTTGGACTGGCGCCAGGACCC 0.632000 """F, N, Mis""" """MDS, CMML""" 8 31 0 0 0.004482 0 0 CD84 8832 broad.mit.edu 37 1 160535406 160535406 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:160535406G>A ENST00000368054.3 - 2 211 c.176C>T c.(175-177)tCt>tTt p.S59F CD84_ENST00000368051.3_Missense_Mutation_p.S59F|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000534968.1_Intron|CD84_ENST00000368048.3_Missense_Mutation_p.S59F|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000311224.4_Missense_Mutation_p.S59F NM_003874.3 NP_003865.1 Q9UIB8 SLAF5_HUMAN CD84 molecule 59 blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1) 24 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) ATAAGCAACAGATGTTTTAGA 0.423000 36 111 0 0 0.004878 0 0 HDLBP 3069 broad.mit.edu 37 2 242194963 242194963 + Silent SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:242194963C>G ENST00000391975.1 - 8 1133 c.906G>C c.(904-906)gtG>gtC p.V302V HDLBP_ENST00000427183.2_Intron|HDLBP_ENST00000310931.4_Silent_p.V302V|HDLBP_ENST00000391976.2_Silent_p.V302V NM_203346.3 NP_976221.1 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 302 KH 2. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) GGGATTTCTTCACTTCCACTG 0.493000 20 74 0 0 0.012319 0 0 NCOR1 9611 broad.mit.edu 37 17 15942786 15942786 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:15942786C>T ENST00000268712.3 - 44 7173 c.6916G>A c.(6916-6918)Gag>Aag p.E2306K NCOR1_ENST00000395857.3_Missense_Mutation_p.E890K|NCOR1_ENST00000395851.1_Missense_Mutation_p.E2203K NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 2306 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CTTCGTGTCTCACCACTGGTC 0.483000 7 36 0 0 0.001984 0 0 LRP1B 53353 broad.mit.edu 37 2 141259290 141259290 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:141259290G>A ENST00000389484.3 - 55 9787 c.8816C>T c.(8815-8817)tCt>tTt p.S2939F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2939 EGF-like 6. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACAGTCTTGAGAACATCCACT 0.388000 TSP Lung(27;0.18) 12 79 0 0 0.001855 0 0 ESYT1 23344 broad.mit.edu 37 12 56531676 56531676 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:56531676G>C ENST00000394048.5 + 19 2440 c.2176G>C c.(2176-2178)Gac>Cac p.D726H ESYT1_ENST00000541590.1_Missense_Mutation_p.D736H|ESYT1_ENST00000267113.4_Missense_Mutation_p.D736H NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 726 C2 3. integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 CAAGGACTTGGACAAGGATGA 0.488000 18 53 0 0 0.006122 0 0 NBEA 26960 broad.mit.edu 37 13 35751193 35751193 + Nonsense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:35751193C>T ENST00000540320.1 + 28 5149 c.4615C>T c.(4615-4617)Cag>Tag p.Q1539* NBEA_ENST00000400445.3_Nonsense_Mutation_p.Q1539*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.Q1536*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.Q1539* Q8NFP9 NBEA_HUMAN neurobeachin 1539 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TAGACTTCTTCAGGATGTTGA 0.363000 3 8 0 0 0.009096 0 0 SGK3 23678 broad.mit.edu 37 8 67759505 67759505 + Silent SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:67759505G>C ENST00000396596.1 + 15 1366 c.1152G>C c.(1150-1152)gtG>gtC p.V384V SGK3_ENST00000522398.1_Silent_p.V384V|SGK3_ENST00000345714.4_Silent_p.V384V|C8orf44-SGK3_ENST00000519289.1_Silent_p.V384V|SGK3_ENST00000521198.2_Silent_p.V384V|SGK3_ENST00000520976.1_Silent_p.V352V NM_013257.4 NP_037389.4 Q96BR1 SGK3_HUMAN serum/glucocorticoid regulated kinase family, member 3 384 Protein kinase. cell communication|response to stress cytoplasmic membrane-bounded vesicle|early endosome ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 18 Breast(64;0.186) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206) GGCCAGGAGTGAGTCTTACAG 0.408000 46 56 0 0 0.011902 0 0 RFX2 5990 broad.mit.edu 37 19 6007164 6007164 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:6007164C>T ENST00000303657.5 - 12 1410 c.1261G>A c.(1261-1263)Gag>Aag p.E421K RFX2_ENST00000359161.3_Missense_Mutation_p.E421K|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Missense_Mutation_p.E396K NM_000635.3 NP_000626.2 P48378 RFX2_HUMAN regulatory factor X, 2 (influences HLA class II expression) 421 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 ACGGCGCCCTCGGGGTCTTCG 0.667000 7 27 0 0 0.001984 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47582443 47582443 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr20:47582443G>C ENST00000371917.4 + 8 942 c.942G>C c.(940-942)gaG>gaC p.E314D NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 314 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) CAGAACCTGAGAGAGTTCTAG 0.473000 14 67 0 0 0.001855 0 0 PML 5371 broad.mit.edu 37 15 74325651 74325651 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:74325651C>T ENST00000565898.1 + 5 1493 c.1409C>T c.(1408-1410)tCa>tTa p.S470L PML_ENST00000395132.2_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000354026.6_Missense_Mutation_p.S470L|PML_ENST00000563500.1_Missense_Mutation_p.S470L|PML_ENST00000395135.3_Missense_Mutation_p.S518L|PML_ENST00000435786.2_Missense_Mutation_p.S518L|PML_ENST00000436891.3_Missense_Mutation_p.S518L|PML_ENST00000567543.1_Intron|PML_ENST00000569965.1_Missense_Mutation_p.S518L|PML_ENST00000569477.1_Missense_Mutation_p.S518L|PML_ENST00000268059.6_Missense_Mutation_p.S518L|PML_ENST00000564428.1_Missense_Mutation_p.S470L|PML_ENST00000268058.3_Missense_Mutation_p.S518L P29590 PML_HUMAN promyelocytic leukemia 518 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 AAGGCAGTCTCACCACCCCAC 0.657000 T """RARA, PAX5""" """APL, ALL""" 9 28 0 0 0.004482 0 0 ARMCX2 9823 broad.mit.edu 37 X 100911314 100911314 + Nonsense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:100911314G>A ENST00000328766.5 - 5 1714 c.1261C>T c.(1261-1263)Caa>Taa p.Q421* ARMCX2_ENST00000330154.2_Nonsense_Mutation_p.Q421*|ARMCX2_ENST00000356824.4_Nonsense_Mutation_p.Q421* NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 421 integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 ATTGTCTCTTGATTGCATGAA 0.413000 20 68 0 0 0.002780 0 0 LSMEM1 286006 broad.mit.edu 37 7 112124970 112124970 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:112124970C>T ENST00000312849.4 + 2 460 c.99C>T c.(97-99)ctC>ctT p.L33L LSMEM1_ENST00000429049.1_Silent_p.L33L|LSMEM1_ENST00000439068.2_Silent_p.L33L NM_182597.2 NP_872403.1 leucine-rich single-pass membrane protein 1 AACTAAACCTCTGTCCAGCCG 0.478000 25 74 0 0 0.003954 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102549502 102549502 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:102549502C>T ENST00000334701.7 - 10 2271 c.1990G>A c.(1990-1992)Gtg>Atg p.V664M HSP90AA1_ENST00000441629.2_Missense_Mutation_p.V363M|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.V542M NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 542 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) GTGACTGACACTAAAGTCTTC 0.418000 22 77 0 0 0.012319 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6089666 6089666 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:6089666C>G ENST00000199389.6 - 3 434 c.288G>C c.(286-288)caG>caC p.Q96H EIF2AK1_ENST00000536084.1_Intron NM_001134335.1|NM_014413.3 NP_001127807.1|NP_055228.2 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha kinase 1 96 negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity p.Q96H(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) TGATAAACGTCTGGCAAAGTA 0.318000 9 35 0 0 0.006214 0 0 CSPP1 79848 broad.mit.edu 37 8 68005835 68005835 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:68005835G>C ENST00000262210.5 + 5 500 c.469G>C c.(469-471)Gaa>Caa p.E157Q CSPP1_ENST00000412460.1_5'UTR NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 192 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) GGGTAAGGAAGAATCCAGTGA 0.338000 31 40 0 0 0.004878 0 0 HCN4 10021 broad.mit.edu 37 15 73615835 73615835 + Missense_Mutation SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:73615835C>A ENST00000261917.3 - 8 3592 c.2599G>T c.(2599-2601)Gcc>Tcc p.A867S NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 867 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) CCAGCGGGGGCAGAGAATCCA 0.692000 8 38 0.000157383 0.000163571 0.003080 1 0 CD1E 913 broad.mit.edu 37 1 158324275 158324275 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:158324275C>T ENST00000368160.3 + 2 167 c.167C>T c.(166-168)tCa>tTa p.S56L CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.S56L|CD1E_ENST00000368163.3_Missense_Mutation_p.S56L|CD1E_ENST00000434258.1_Missense_Mutation_p.S54L|CD1E_ENST00000368155.3_Missense_Mutation_p.S56L|CD1E_ENST00000368167.3_Missense_Mutation_p.S56L|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.S56L|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.S56L|CD1E_ENST00000464822.1_Intron NM_001042583.2 NP_001036048.1 P15812 CD1E_HUMAN CD1e molecule 56 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) AGTGAGGGCTCAGGATGGCTG 0.567000 19 52 0 0 0.006122 0 0 ATP8A2 51761 broad.mit.edu 37 13 26125501 26125501 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:26125501G>C ENST00000381655.2 + 11 1059 c.917G>C c.(916-918)aGa>aCa p.R306T ATP8A2_ENST00000255283.8_Missense_Mutation_p.R266T NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 266 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) CCTCTCAAGAGATCAAATGTT 0.507000 9 33 0 0 0.006214 0 0 DOK6 220164 broad.mit.edu 37 18 67365819 67365819 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr18:67365819G>C ENST00000382713.5 + 5 779 c.589G>C c.(589-591)Gag>Cag p.E197Q DOK6_ENST00000584435.1_3'UTR NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 197 IRS-type PTB. insulin receptor binding p.E197K(1) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) GTTCACGTTTGAGTCAGGAAG 0.478000 3 17 0 0 0.004672 0 0 SLC34A2 10568 broad.mit.edu 37 4 25676182 25676182 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:25676182C>T ENST00000382051.3 + 12 1439 c.1389C>T c.(1387-1389)atC>atT p.I463I SLC34A2_ENST00000504570.1_Silent_p.I462I|SLC34A2_ENST00000503434.1_Silent_p.I462I NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 463 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) GCTCCAACATCGGCACCACCA 0.592000 T ROS1 NSCLC 15 58 0 0 0.003163 0 0 KCNS3 3790 broad.mit.edu 37 2 18113476 18113476 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:18113476C>G ENST00000403915.1 + 3 1652 c.1201C>G c.(1201-1203)Ccc>Gcc p.P401A KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.P401A Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 401 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GGTGGCCCTTCCCATCACCAT 0.517000 20 48 0 0 0.010504 0 0 IRS4 8471 broad.mit.edu 37 X 107976960 107976960 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:107976960G>A ENST00000372129.2 - 1 2691 c.2615C>T c.(2614-2616)tCa>tTa p.S872L NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 872 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CTTTGAAGGTGATCCCCCATC 0.443000 58 201 0 0 0.014410 0 0 CYP2C9 1559 broad.mit.edu 37 10 96702031 96702031 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:96702031G>C ENST00000260682.6 + 3 426 c.414G>C c.(412-414)aaG>aaC p.K138N CYP2C9_ENST00000461906.1_3'UTR NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 138 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) GGATGGGGAAGAGGAGCATTG 0.502000 16 68 0 0 0.004007 0 0 XYLT1 64131 broad.mit.edu 37 16 17235129 17235129 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:17235129C>G ENST00000261381.6 - 7 1552 c.1468G>C c.(1468-1470)Gat>Cat p.D490H NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 490 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GAACCGCCATCCACGGCAATG 0.567000 38 102 0 0 0.003755 0 0 PCDHB15 56121 broad.mit.edu 37 5 140625334 140625334 + Missense_Mutation SNP G G A rs2907300 TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:140625334G>A ENST00000231173.3 + 1 188 c.188G>A c.(187-189)gGa>gAa p.G63E NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 63 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCGAGCGGGGAGCCCGGGTA 0.552000 11 40 0 0 0.008291 0 0 DZIP3 9666 broad.mit.edu 37 3 108380811 108380811 + Nonsense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:108380811C>T ENST00000361582.3 + 20 2517 c.2287C>T c.(2287-2289)Cag>Tag p.Q763* DZIP3_ENST00000463306.1_Nonsense_Mutation_p.Q763* NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 763 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 ATTGCACTATCAGTGTGAAGT 0.373000 10 23 0 0 0.006214 0 0 NRSN1 140767 broad.mit.edu 37 6 24145891 24145891 + Missense_Mutation SNP A A G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:24145891A>G ENST00000378491.4 + 4 606 c.305A>G c.(304-306)gAc>gGc p.D102G NM_080723.4 NP_542454.3 Q8IZ57 NRSN1_HUMAN neurensin 1 102 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 22 GTGGTGGTCGACACACATGCT 0.527000 34 31 0 0 0.012213 0 0 CNDP2 55748 broad.mit.edu 37 18 72183552 72183552 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr18:72183552G>A ENST00000324262.4 + 9 1309 c.993G>A c.(991-993)gtG>gtA p.V331V CNDP2_ENST00000579847.1_Silent_p.V331V|CNDP2_ENST00000324301.8_Silent_p.V247V NM_018235.2 NP_060705.2 Q96KP4 CNDP2_HUMAN CNDP dipeptidase 2 (metallopeptidase M20 family) 331 cytoplasm carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3) 24 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.22) CCAAGACCGTGATTCCCAGGA 0.597000 14 48 0 0 0.003163 0 0 CPNE7 27132 broad.mit.edu 37 16 89655212 89655212 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:89655212G>A ENST00000268720.5 + 12 1412 c.1282G>A c.(1282-1284)Gac>Aac p.D428N CPNE7_ENST00000319518.8_Missense_Mutation_p.D353N NM_014427.4 NP_055242.1 Q9UBL6 CPNE7_HUMAN copine VII 428 VWFA. lipid metabolic process transporter activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2) 17 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) CCAGGACTATGACAGGTGCGC 0.642000 13 26 0 0 0.004007 0 0 GABRA1 2554 broad.mit.edu 37 5 161322869 161322869 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:161322869G>A ENST00000428797.2 + 10 1409 c.1054G>A c.(1054-1056)Gaa>Aaa p.E352K GABRA1_ENST00000444819.1_Missense_Mutation_p.E352K|GABRA1_ENST00000420560.1_Missense_Mutation_p.E352K|GABRA1_ENST00000437025.2_Missense_Mutation_p.E352K|GABRA1_ENST00000393943.4_Missense_Mutation_p.E352K|GABRA1_ENST00000023897.6_Missense_Mutation_p.E352K NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 352 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) TGTGGTTCCAGAAAAGGTAAA 0.393000 26 62 0 0 0.004656 0 0 PRPH2 5961 broad.mit.edu 37 6 42666224 42666224 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:42666224G>A ENST00000230381.5 - 3 1089 c.850C>T c.(850-852)Cgc>Tgc p.R284C NM_000322.4 NP_000313.2 P23942 PRPH2_HUMAN peripherin 2 (retinal degeneration, slow) 284 cell adhesion|visual perception integral to membrane NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 18 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) TGTAGGTAGCGCAGCCCAATT 0.587000 11 21 0 0 0.002450 0 0 LILRB4 11006 broad.mit.edu 37 19 55179456 55179456 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:55179456C>G ENST00000391736.1 + 14 1648 c.1333C>G c.(1333-1335)Ctg>Gtg p.L445V LILRB4_ENST00000391734.3_Missense_Mutation_p.L392V|LILRB4_ENST00000430952.2_Missense_Mutation_p.L444V|LILRB4_ENST00000391733.3_Missense_Mutation_p.L446V|LILRB4_ENST00000270452.2_Missense_Mutation_p.L445V NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 445 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) CTATGCCACTCTGGCCATCCA 0.597000 15 59 0 0 0.003163 0 0 ZBTB22 9278 broad.mit.edu 37 6 33284041 33284041 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:33284041G>A ENST00000431845.2 - 2 804 c.653C>T c.(652-654)tCa>tTa p.S218L ZBTB22_ENST00000418724.1_Missense_Mutation_p.S218L NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 GGAGGAAGATGAGAAATCAGT 0.612000 6 39 0 0 0.001168 0 0 B4GALT2 8704 broad.mit.edu 37 1 44456097 44456097 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:44456097C>T ENST00000356836.6 + 7 1886 c.1096C>T c.(1096-1098)Ccg>Tcg p.P366S B4GALT2_ENST00000434555.2_Missense_Mutation_p.P300S|B4GALT2_ENST00000372324.1_Missense_Mutation_p.P366S|B4GALT2_ENST00000309519.7_Missense_Mutation_p.P395S NM_001005417.2|NM_030587.2 NP_001005417.1|NP_085076.2 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 366 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) TGGGCGGCCTCCGTCGTGGCC 0.617000 26 99 0 0 0.004656 0 0 PI4KA 5297 broad.mit.edu 37 22 21104247 21104247 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr22:21104247C>T ENST00000255882.6 - 28 3275 c.3189G>A c.(3187-3189)atG>atA p.M1063I PI4KA_ENST00000572273.1_Missense_Mutation_p.M1005I NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1005 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CCTGGAGGATCATCCCACAGC 0.527000 8 30 0 0 0.006214 0 0 HEG1 57493 broad.mit.edu 37 3 124731790 124731790 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:124731790C>T ENST00000311127.4 - 6 2700 c.2633G>A c.(2632-2634)gGa>gAa p.G878E NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 878 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 GAGCTGTTTTCCAGCTGTAGT 0.507000 21 72 0 0 0.012319 0 0 CACNA1D 776 broad.mit.edu 37 3 53834389 53834389 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:53834389C>T ENST00000288139.3 + 42 5215 c.5097C>T c.(5095-5097)ttC>ttT p.F1699F CACNA1D_ENST00000350061.5_Silent_p.F1679F|CACNA1D_ENST00000422281.2_Silent_p.F1664F|CACNA1D_ENST00000544977.1_Silent_p.F58F NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1679 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) ATGATGTGTTCAAAGTAATTA 0.468000 17 49 0 0 0.006122 0 0 C8orf34 116328 broad.mit.edu 37 8 69633646 69633646 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:69633646G>C ENST00000337103.4 + 9 2637 c.1045G>C c.(1045-1047)Gag>Cag p.E349Q C8orf34_ENST00000325233.3_Missense_Mutation_p.E118Q|C8orf34_ENST00000518698.1_Missense_Mutation_p.E460Q|C8orf34_ENST00000539993.1_Missense_Mutation_p.E374Q Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 374 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) TGACGAATTTGAGAAAGCATC 0.274000 12 20 0 0 0.007413 0 0 NANOG 79923 broad.mit.edu 37 12 7942253 7942253 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:7942253G>C ENST00000229307.4 + 1 262 c.43G>C c.(43-45)Gaa>Caa p.E15Q NANOG_ENST00000526286.1_Missense_Mutation_p.E15Q NM_024865.2 NP_079141.2 Q9H9S0 NANOG_HUMAN Nanog homeobox 15 cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Kidney(36;0.0872) GCCTTGCTTTGAAGCATCCGA 0.438000 9 105 0 0 0.013537 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555035 44555035 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr18:44555035C>G ENST00000330682.2 - 1 1414 c.1179G>C c.(1177-1179)tgG>tgC p.W393C KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 393 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 AATGAATCCTCCATAATTCAT 0.577000 7 221 0 0 0.008291 0 0 PTPRM 5797 broad.mit.edu 37 18 8370921 8370921 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr18:8370921G>C ENST00000332175.8 + 22 4086 c.3049G>C c.(3049-3051)Gag>Cag p.E1017Q PTPRM_ENST00000400060.4_Missense_Mutation_p.E1031Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.E804Q|PTPRM_ENST00000580170.1_Missense_Mutation_p.E1030Q|PTPRM_ENST00000400053.4_Missense_Mutation_p.E955Q NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 1017 Tyrosine-protein phosphatase 1. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) AGATGACACAGAGATATATAA 0.348000 9 74 0 0 0.004482 0 0 KCNK15 60598 broad.mit.edu 37 20 43379022 43379022 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr20:43379022C>G ENST00000372861.3 + 2 667 c.536C>G c.(535-537)tCg>tGg p.S179W NM_022358.3 NP_071753.2 Q9H427 KCNKF_HUMAN potassium channel, subfamily K, member 15 179 integral to membrane potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(115;0.0122) GTCGCCTTCTCGCACTTCGAG 0.677000 4 19 0 0 0.009096 0 0 HOXD10 3236 broad.mit.edu 37 2 176982029 176982029 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:176982029G>C ENST00000249501.4 + 1 723 c.468G>C c.(466-468)caG>caC p.Q156H HOXD10_ENST00000490088.2_Intron NM_002148.3 NP_002139.2 P28358 HXD10_HUMAN homeobox D10 156 nucleus sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) GACTGAGTCAGACCTACGCCA 0.582000 16 107 0 0 0.004007 0 0 HOXC11 3227 broad.mit.edu 37 12 54367025 54367025 + Translation_Start_Site SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:54367025G>A ENST00000546378.1 + 0 116 HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_De_novo_Start_InFrame|HOTAIR_ENST00000424518.1_RNA O43248 HXC11_HUMAN homeobox C11 endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 AGAGGAGAACGATGTTTAACT 0.592000 T NUP98 AML 8 20 0 0 0.004482 0 0 MAP1S 55201 broad.mit.edu 37 19 17835961 17835961 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:17835961C>T ENST00000324096.4 + 4 558 c.407C>T c.(406-408)tCg>tTg p.S136L MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Missense_Mutation_p.S110L NM_018174.4 NP_060644.4 Q66K74 MAP1S_HUMAN microtubule-associated protein 1S 136 Necessary for the microtubule-organizing center localization. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 25 GGGGGCTTCTCGCCTCACCAC 0.612000 21 63 0 0 0.010504 0 0 ZNF136 7695 broad.mit.edu 37 19 12297854 12297854 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:12297854G>C ENST00000343979.4 + 4 801 c.661G>C c.(661-663)Gag>Cag p.E221Q ZNF136_ENST00000398616.2_Missense_Mutation_p.E155Q NM_003437.3 NP_003428.1 P52737 ZN136_HUMAN zinc finger protein 136 221 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 18 TCACACTGGAGAGAAACCCTA 0.398000 17 33 0 0 0.004007 0 0 SPECC1L 23384 broad.mit.edu 37 22 24759250 24759250 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr22:24759250C>T ENST00000314328.9 + 12 3050 c.2765C>T c.(2764-2766)tCa>tTa p.S922L KB-1896H10.1_ENST00000358654.2_3'UTR|SPECC1L_ENST00000541492.1_Missense_Mutation_p.S922L|SPECC1L_ENST00000437398.1_Missense_Mutation_p.S922L NM_001254733.1|NM_015330.3 NP_001241662.1|NP_056145.3 Q69YQ0 CYTSA_HUMAN sperm antigen with calponin homology and coiled-coil domains 1-like 922 cell cycle|cell division breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1) 27 AGAACATCTTCAGCCAGCCGG 0.413000 13 28 0 0 0.002450 0 0 MRPL41 64975 broad.mit.edu 37 9 140446891 140446891 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:140446891G>C ENST00000371443.5 + 2 1146 c.358G>C c.(358-360)Gag>Cag p.E120Q NM_032477.2 NP_115866.1 Q8IXM3 RM41_HUMAN mitochondrial ribosomal protein L41 120 apoptosis|cell cycle|translation mitochondrial large ribosomal subunit structural constituent of ribosome breast(1)|lung(1) 2 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106) GTACGGCTTCGAGCCCACACA 0.602000 11 23 0 0 0.010729 0 0 ARHGAP6 395 broad.mit.edu 37 X 11187648 11187648 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:11187648C>T ENST00000337414.4 - 9 2658 c.1786G>A c.(1786-1788)Gaa>Aaa p.E596K ARHGAP6_ENST00000413512.3_Missense_Mutation_p.E405K|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.E421K|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.E393K|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.E393K|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.E596K|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.E628K NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 596 Rho-GAP. actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 TCATAATTTTCAATCATCTTT 0.488000 14 45 0 0 0.002450 0 0 SLC23A1 9963 broad.mit.edu 37 5 138707763 138707763 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:138707763C>T ENST00000353963.3 - 14 1779 c.1741G>A c.(1741-1743)Gat>Aat p.D581N SLC23A1_ENST00000348729.3_Missense_Mutation_p.D577N NM_152685.3 NP_689898.2 Q9UHI7 S23A1_HUMAN solute carrier family 23 (ascorbic acid transporter), member 1 577 brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) Vitamin C(DB00126) GCAATCTGATCTTTTGAACTT 0.398000 37 138 0 0 0.004289 0 0 SMCR8 140775 broad.mit.edu 37 17 18220060 18220060 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:18220060G>A ENST00000406438.3 + 1 1437 c.957G>A c.(955-957)ttG>ttA p.L319L NM_144775.2 NP_658988.2 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, candidate 8 319 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 ACAAGAAGTTGAAGACCTTGG 0.493000 18 55 0 0 0.006122 0 0 EBNA1BP2 10969 broad.mit.edu 37 1 43630388 43630388 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:43630388C>T ENST00000431635.2 - 9 1109 c.961G>A c.(961-963)Gat>Aat p.D321N EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.D266N NM_001159936.1 NP_001153408.1 Q99848 EBP2_HUMAN EBNA1 binding protein 2 266 ribosome biogenesis membrane fraction|nucleolus protein binding endometrium(1)|kidney(2)|large_intestine(4)|lung(9) 16 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GATACATCATCATAGCTCTCC 0.502000 13 57 0 0 0.001855 0 0 EPS8L1 54869 broad.mit.edu 37 19 55591869 55591869 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:55591869G>C ENST00000245618.5 + 1 110 c.8G>C c.(7-9)aGa>aCa p.R3T EPS8L1_ENST00000201647.6_Intron|EPS8L1_ENST00000592824.1_Intron|EPS8L1_ENST00000588359.1_Missense_Mutation_p.R3T|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000540810.1_Intron NM_017729.3 NP_060199.3 Q8TE68 ES8L1_HUMAN EPS8-like 1 0 cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) GACATGAACAGAACATGGCCA 0.602000 4 18 0 0 0.001168 0 0 ERP44 23071 broad.mit.edu 37 9 102769866 102769866 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:102769866C>T ENST00000262455.6 - 9 1067 c.868G>A c.(868-870)Gaa>Aaa p.E290K NM_015051.1 NP_055866.1 Q9BS26 ERP44_HUMAN endoplasmic reticulum protein 44 290 cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment protein binding|protein disulfide isomerase activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2) 19 CTACCTTTTTCACTTATTAAT 0.338000 12 42 0 0 0.013537 0 0 SRPK2 6733 broad.mit.edu 37 7 104783666 104783666 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:104783666C>G ENST00000357311.3 - 9 1063 c.892G>C c.(892-894)Gaa>Caa p.E298Q SRPK2_ENST00000393651.3_Missense_Mutation_p.E309Q|SRPK2_ENST00000489828.1_Missense_Mutation_p.E298Q NM_001278273.1|NM_182691.1 NP_001265202.1|NP_872633.1 P78362 SRPK2_HUMAN SRSF protein kinase 2 298 Protein kinase. angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 ATTTTCCTTTCAGCTTCTCGC 0.408000 18 81 0 0 0.014323 0 0 S100A2 6273 broad.mit.edu 37 1 153536239 153536239 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:153536239G>C ENST00000368708.3 - 2 484 c.112C>G c.(112-114)Ctg>Gtg p.L38V S100A2_ENST00000497140.1_Missense_Mutation_p.L5V|S100A2_ENST00000487430.2_Missense_Mutation_p.L38V|S100A2_ENST00000368709.1_Missense_Mutation_p.L38V|S100A2_ENST00000368707.4_Missense_Mutation_p.L38V|S100A2_ENST00000368710.1_Missense_Mutation_p.L38V NM_005978.3 NP_005969.1 P29034 S10A2_HUMAN S100 calcium binding protein A2 39 EF-hand 1. endothelial cell migration calcium ion binding endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 5 all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TCCTTGTGCAGAAGTTCCTTC 0.582000 16 43 0 0 0.006122 0 0 ABCA9 10350 broad.mit.edu 37 17 66972084 66972084 + Nonsense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:66972084C>T ENST00000340001.4 - 39 5058 c.4847G>A c.(4846-4848)tGg>tAg p.W1616* ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Nonsense_Mutation_p.W1578* NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1616 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) GAGGAGTTTCCACTTCACCGA 0.408000 3 12 0 0 0.009096 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560858 44560858 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr18:44560858C>G ENST00000332567.4 - 1 1130 c.778G>C c.(778-780)Gag>Cag p.E260Q KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 260 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GGGGTTTCCTCTCTTAAGCAG 0.597000 13 57 0 0 0.013537 0 0 CCDC27 148870 broad.mit.edu 37 1 3679939 3679939 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:3679939G>A ENST00000294600.2 + 7 1306 c.1222G>A c.(1222-1224)Gag>Aag p.E408K NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 408 Glu-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) CGAGTCGTTTGAGGAGGAGCT 0.612000 4 26 0 0 0.000602 0 0 LPAL2 80350 broad.mit.edu 37 6 160906954 160906954 + RNA SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:160906954C>G ENST00000335388.5 - 0 742 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) CTCGATAACTCTGTCCATTTC 0.458000 20 193 0 0 0.014323 0 0 GOT2 2806 broad.mit.edu 37 16 58757719 58757719 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:58757719C>G ENST00000245206.5 - 2 305 c.177G>C c.(175-177)aaG>aaC p.K59N GOT2_ENST00000434819.2_Missense_Mutation_p.K59N|GOT2_ENST00000564400.1_5'UTR NM_002080.2 NP_002071.2 P00505 AATM_HUMAN glutamic-oxaloacetic transaminase 2, mitochondrial 59 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1) 22 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CCAGATTCATCTTTTTGCTAT 0.493000 41 137 0 0 0.011902 0 0 PARP4 143 broad.mit.edu 37 13 25026704 25026704 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:25026704C>T ENST00000381989.3 - 24 2959 c.2854G>A c.(2854-2856)Gac>Aac p.D952N NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 952 VWFA. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) TTCCAGAAGTCTGTGTTCCCC 0.488000 20 62 0 0 0.014323 0 0 EML1 2009 broad.mit.edu 37 14 100405590 100405590 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:100405590G>C ENST00000262233.6 + 21 2387 c.2248G>C c.(2248-2250)Gag>Cag p.E750Q EML1_ENST00000334192.4_Missense_Mutation_p.E769Q|EML1_ENST00000327921.9_Missense_Mutation_p.E738Q NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 750 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) TCGGGCCCATGAGAAGAAACT 0.537000 4 33 0 0 0.009096 0 0 MEGF8 1954 broad.mit.edu 37 19 42875617 42875617 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:42875617G>C ENST00000334370.4 + 40 7686 c.7051G>C c.(7051-7053)Gac>Cac p.D2351H MEGF8_ENST00000251268.6_Missense_Mutation_p.D2418H|MEGF8_ENST00000378073.4_Intron NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2418 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) TGACCGTCGAGACTGCTACAA 0.627000 9 44 0 0 0.006214 0 0 KIAA1328 57536 broad.mit.edu 37 18 34802101 34802101 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr18:34802101C>G ENST00000591619.1 + 10 2419 c.1633C>G c.(1633-1635)Cta>Gta p.L545V KIAA1328_ENST00000280020.5_Missense_Mutation_p.L549V|KIAA1328_ENST00000586135.1_3'UTR|KIAA1328_ENST00000543923.1_Intron Q86T90 K1328_HUMAN KIAA1328 549 central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 14 COAD - Colon adenocarcinoma(74;0.195) ACTCAGTCCTCTAAAATCAAC 0.473000 5 5 0 0 0.000602 0 0 SETD7 80854 broad.mit.edu 37 4 140468192 140468192 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:140468192C>T ENST00000274031.3 - 2 688 c.52G>A c.(52-54)Gat>Aat p.D18N SETD7_ENST00000506866.2_Missense_Mutation_p.D18N|SETD7_ENST00000406354.1_5'UTR|SETD7_ENST00000404104.3_Missense_Mutation_p.D18N NM_030648.2 NP_085151.1 Q8WTS6 SETD7_HUMAN SET domain containing (lysine methyltransferase) 7 18 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus histone-lysine N-methyltransferase activity|p53 binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 8 all_hematologic(180;0.156) AATCCGTCATCGTCCAGGTGC 0.522000 13 40 0 0 0.002450 0 0 B4GALT2 8704 broad.mit.edu 37 1 44456112 44456112 + Silent SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:44456112C>A ENST00000356836.6 + 7 1901 c.1111C>A c.(1111-1113)Cgg>Agg p.R371R B4GALT2_ENST00000434555.2_Silent_p.R305R|B4GALT2_ENST00000372324.1_Silent_p.R371R|B4GALT2_ENST00000309519.7_Silent_p.R400R NM_001005417.2|NM_030587.2 NP_001005417.1|NP_085076.2 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 371 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) GTGGCCCCCTCGGGGCTGACA 0.622000 16 81 0.000566183 0.000584447 0.004990 1 0 SLC25A47 283600 broad.mit.edu 37 14 100789775 100789775 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:100789775C>T ENST00000361529.3 + 1 102 c.24C>T c.(22-24)atC>atT p.I8I SLC25A47_ENST00000557052.1_5'UTR NM_207117.2 NP_997000.2 Q6Q0C1 S2547_HUMAN solute carrier family 25, member 47 8 transmembrane transport integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 13 CTGGAGCCATCGGAGGTAACA 0.627000 13 17 0 0 0.004990 0 0 SREBF1 6720 broad.mit.edu 37 17 17719301 17719301 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:17719301C>G ENST00000355815.4 - 13 2515 c.2346G>C c.(2344-2346)caG>caC p.Q782H SREBF1_ENST00000395757.1_Missense_Mutation_p.Q498H|SREBF1_ENST00000261646.5_Missense_Mutation_p.Q752H|SREBF1_ENST00000338854.5_Missense_Mutation_p.Q752H NM_001005291.2 NP_001005291.1 P36956 SRBP1_HUMAN sterol regulatory element binding transcription factor 1 752 cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 14 CTGAGCCACTCTGTGCCAGGC 0.667000 5 43 0 0 0.000602 0 0 PTPRB 5787 broad.mit.edu 37 12 70983837 70983837 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:70983837C>T ENST00000334414.6 - 8 2001 c.1957G>A c.(1957-1959)Gac>Aac p.D653N PTPRB_ENST00000538708.1_Missense_Mutation_p.D435N|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000550358.1_Missense_Mutation_p.D653N|PTPRB_ENST00000551525.1_Missense_Mutation_p.D652N|PTPRB_ENST00000261266.5_Missense_Mutation_p.D435N|PTPRB_ENST00000550857.1_Intron NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 435 Fibronectin type-III 8. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGCCCCGTGTCATCCATGACA 0.493000 OREG0021990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 102 0 0 0.013537 0 0 TNR 7143 broad.mit.edu 37 1 175299264 175299264 + Nonsense_Mutation SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:175299264C>A ENST00000367674.1 - 21 4447 c.3739G>T c.(3739-3741)Gag>Tag p.E1247* RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Nonsense_Mutation_p.E1247* NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 1247 Fibrinogen C-terminal. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.E1247K(1) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CTGCTGTCCTCGACAGAGAAC 0.587000 13 32 4.3838e-07 4.61933e-07 0.001855 1 0 SULT1E1 6783 broad.mit.edu 37 4 70710039 70710039 + Missense_Mutation SNP T T C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:70710039T>C ENST00000226444.3 - 7 724 c.612A>G c.(610-612)atA>atG p.I204M NM_005420.2 NP_005411.1 P49888 ST1E1_HUMAN sulfotransferase family 1E, estrogen-preferring, member 1 204 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 GTATCAATTTTATCACCTCTT 0.343000 8 63 0 0 0.004482 0 0 MSRB3 253827 broad.mit.edu 37 12 65722331 65722331 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:65722331C>T ENST00000308259.5 + 4 485 c.211C>T c.(211-213)Cac>Tac p.H71Y MSRB3_ENST00000535664.1_Missense_Mutation_p.H71Y|MSRB3_ENST00000540804.1_Missense_Mutation_p.H78Y|MSRB3_ENST00000355192.3_Missense_Mutation_p.H78Y NM_001031679.2|NM_001193460.1 NP_001026849.1|NP_001180389.1 Q8IXL7 MSRB3_HUMAN methionine sulfoxide reductase B3 78 protein repair endoplasmic reticulum|mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.131) ATACACACATCACAAAGATCC 0.299000 9 46 0 0 0.008291 0 0 LRRC42 115353 broad.mit.edu 37 1 54426051 54426051 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:54426051G>A ENST00000371370.3 + 5 1149 c.628G>A c.(628-630)Gat>Aat p.D210N LRRC42_ENST00000319223.4_Missense_Mutation_p.D210N NM_001256409.1 NP_001243338.1 Q9Y546 LRC42_HUMAN leucine rich repeat containing 42 210 breast(2)|kidney(1)|large_intestine(1)|lung(5) 9 CCACCTGAAGGATAATTGTTT 0.373000 32 62 0 0 0.012213 0 0 ESX1 80712 broad.mit.edu 37 X 103498857 103498857 + Nonsense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:103498857G>A ENST00000372588.4 - 2 567 c.484C>T c.(484-486)Caa>Taa p.Q162* NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 162 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 TCGGGATATTGAGATTCATCG 0.612000 22 70 0 0 0.003954 0 0 DOK6 220164 broad.mit.edu 37 18 67406304 67406304 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr18:67406304G>A ENST00000382713.5 + 6 893 c.703G>A c.(703-705)Gaa>Aaa p.E235K DOK6_ENST00000584435.1_3'UTR NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 235 IRS-type PTB. insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) TGAGCAACATGAAAGATTAAT 0.448000 10 106 0 0 0.008291 0 0 PLA2G2F 64600 broad.mit.edu 37 1 20474786 20474786 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:20474786C>T ENST00000375102.3 + 5 630 c.528C>T c.(526-528)ttC>ttT p.F176F NM_022819.3 NP_073730.3 Q9BZM2 PA2GF_HUMAN phospholipase A2, group IIF 133 lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 15 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) ACCGTGGCTTCCTCAATGTCT 0.582000 8 44 0 0 0.004482 0 0 FXR2 9513 broad.mit.edu 37 17 7496331 7496331 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:7496331G>A ENST00000250113.7 - 13 1833 c.1499C>T c.(1498-1500)tCg>tTg p.S500L NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 500 cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) ATTGTATCTCGAAGTGGGCCG 0.617000 10 44 0 0 0.010729 0 0 PTPRF 5792 broad.mit.edu 37 1 44069731 44069731 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:44069731G>C ENST00000359947.4 + 16 3248 c.2908G>C c.(2908-2910)Gac>Cac p.D970H PTPRF_ENST00000438120.1_Missense_Mutation_p.D961H|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.D961H|PTPRF_ENST00000372414.3_Missense_Mutation_p.D970H|PTPRF_ENST00000422171.2_Missense_Mutation_p.D318H NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 970 Fibronectin type-III 7. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CATCACGACAGACACCCGCTT 0.597000 20 59 0 0 0.012319 0 0 AP3D1 8943 broad.mit.edu 37 19 2110821 2110821 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:2110821G>A ENST00000355272.6 - 27 3266 c.3060C>T c.(3058-3060)agC>agT p.S1020S AP3D1_ENST00000350812.6_Silent_p.S789S|AP3D1_ENST00000356926.4_Silent_p.S917S|AP3D1_ENST00000345016.5_Silent_p.S958S NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 958 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGAGGATGCTGCTGCTCCTGT 0.642000 8 36 0 0 0.004482 0 0 CETP 1071 broad.mit.edu 37 16 57016142 57016142 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:57016142C>T ENST00000200676.3 + 14 1444 c.1314C>T c.(1312-1314)gtC>gtT p.V438V CETP_ENST00000379780.2_Silent_p.V378V|CETP_ENST00000566128.1_Silent_p.V373V NM_000078.2 NP_000069.2 P11597 CETP_HUMAN cholesteryl ester transfer protein, plasma 438 cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3) 23 TCCCTGAGGTCATGTCTCGTA 0.597000 5 47 0 0 0.001984 0 0 ZNF208 7757 broad.mit.edu 37 19 22155770 22155770 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:22155770C>G ENST00000397126.4 - 4 2214 c.2066G>C c.(2065-2067)gGa>gCa p.G689A ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) GGGTTTCTCTCCAGTATGAAT 0.383000 12 42 0 0 0.002450 0 0 LAMA3 3909 broad.mit.edu 37 18 21478998 21478998 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr18:21478998G>A ENST00000313654.9 + 46 6046 c.5805G>A c.(5803-5805)gtG>gtA p.V1935V LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.V326V|LAMA3_ENST00000269217.6_Silent_p.V326V|LAMA3_ENST00000399516.3_Silent_p.V1935V NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1935 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AACTGGATGTGAAGATTAAAA 0.318000 17 34 0 0 0.010504 0 0 DRD1 1812 broad.mit.edu 37 5 174869513 174869513 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:174869513G>A ENST00000393752.2 - 2 1582 c.590C>T c.(589-591)tCa>tTa p.S197L NM_000794.3 NP_000785.1 P21728 DRD1_HUMAN dopamine receptor D1 197 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) TACAGAGGATGAGATGGCATA 0.502000 13 84 0 0 0.001855 0 0 WNK1 65125 broad.mit.edu 37 12 978248 978248 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:978248G>A ENST00000537687.1 + 9 3999 c.3356G>A c.(3355-3357)gGa>gAa p.G1119E WNK1_ENST00000530271.2_Missense_Mutation_p.G1204E|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.G418E|WNK1_ENST00000315939.6_Intron NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 857 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) TTTTCTTCAGGAGGATCTGCA 0.393000 35 266 0 0 0.004289 0 0 TUBB6 84617 broad.mit.edu 37 18 12324975 12324975 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr18:12324975G>A ENST00000592683.1 + 4 333 c.287G>A c.(286-288)gGa>gAa p.G96E TUBB6_ENST00000586653.1_3'UTR|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591208.1_Intron|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000317702.5_Intron Q9BUF5 TBB6_HUMAN tubulin, beta 6 class V 96 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1) 14 READ - Rectum adenocarcinoma(1;0.0649) GCACATCATGGAATCACTTCA 0.557000 8 20 0 0 0.003080 0 0 AHNAK 79026 broad.mit.edu 37 11 62294428 62294428 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:62294428C>G ENST00000378024.4 - 5 7735 c.7461G>C c.(7459-7461)atG>atC p.M2487I AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2487 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CCCTGATGTTCATATCTGGTA 0.478000 49 147 0 0 0.014410 0 0 SUPV3L1 6832 broad.mit.edu 37 10 70958267 70958267 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:70958267G>A ENST00000359655.4 + 9 1223 c.1163G>A c.(1162-1164)cGg>cAg p.R388Q NM_003171.3 NP_003162.2 Q8IYB8 SUV3_HUMAN suppressor of var1, 3-like 1 (S. cerevisiae) 388 Helicase C-terminal. DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ATTGAAATTCGGGGATTAGAA 0.393000 21 84 0 0 0.010504 0 0 PCLO 27445 broad.mit.edu 37 7 82586178 82586178 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:82586178C>T ENST00000423517.2 - 5 4428 c.4091G>A c.(4090-4092)gGa>gAa p.G1364E PCLO_ENST00000333891.8_Missense_Mutation_p.G1364E NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1295 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGAAGAATATCCCGTGTCGCT 0.423000 6 24 0 0 0.001984 0 0 SREK1 140890 broad.mit.edu 37 5 65459693 65459693 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:65459693G>C ENST00000334121.6 + 6 988 c.829G>C c.(829-831)Gaa>Caa p.E277Q SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000380918.3_Missense_Mutation_p.E161Q NM_001077199.2|NM_001270492.1 NP_001070667.1|NP_001257421.1 Q8WXA9 SREK1_HUMAN splicing regulatory glutamine/lysine-rich protein 1 161 Arg/Glu/Lys/Ser-rich. mRNA processing|RNA splicing spliceosomal complex nucleic acid binding|nucleotide binding|protein binding breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1) 9 GGAGTTAGAAGAAGTAATGAA 0.368000 18 61 0 0 0.006122 0 0 RASA2 5922 broad.mit.edu 37 3 141272764 141272764 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:141272764C>T ENST00000286364.3 + 6 628 c.593C>T c.(592-594)tCt>tTt p.S198F RASA2_ENST00000452898.1_Missense_Mutation_p.S198F Q15283 RASA2_HUMAN RAS p21 protein activator 2 198 C2 2. intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 GCAACAGTTTCTCTAGTGGGC 0.323000 21 63 0 0 0.012319 0 0 ZNF175 7728 broad.mit.edu 37 19 52091027 52091027 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:52091027G>A ENST00000262259.2 + 5 1801 c.1443G>A c.(1441-1443)ggG>ggA p.G481G ZNF175_ENST00000436511.2_Intron NM_007147.2 NP_009078.1 Q9Y473 ZN175_HUMAN zinc finger protein 175 481 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) ACAACTGTGGGAAATCCTTCA 0.448000 11 19 0 0 0.010729 0 0 HOOK2 29911 broad.mit.edu 37 19 12883482 12883482 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:12883482C>G ENST00000264827.5 - 6 571 c.401G>C c.(400-402)aGa>aCa p.R134T HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Missense_Mutation_p.R134T NM_001100176.1 NP_001093646.1 Q96ED9 HOOK2_HUMAN hook microtubule-tethering protein 2 134 Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding p.R134I(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1) 20 CGTCATGATTCTCTGGATGTG 0.582000 13 125 0 0 0.002450 0 0 TXNDC2 84203 broad.mit.edu 37 18 9887362 9887362 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr18:9887362G>A ENST00000306084.6 + 2 1085 c.886G>A c.(886-888)Gag>Aag p.E296K TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.E229K NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 296 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 CCAGCCCAAGGAGGGTGACCT 0.602000 32 73 0 0 0.012213 0 0 ZC3H12A 80149 broad.mit.edu 37 1 37941518 37941518 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:37941518G>C ENST00000373087.6 + 2 537 c.421G>C c.(421-423)Gat>Cat p.D141H NM_025079.2 NP_079355.2 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 141 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AGTGGTCATCGATGGGAGCAA 0.592000 5 8 0 0 0.000602 0 0 FBXL17 64839 broad.mit.edu 37 5 107700445 107700445 + Silent SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:107700445G>C ENST00000542267.1 - 3 1774 c.1368C>G c.(1366-1368)ctC>ctG p.L456L FBXL17_ENST00000359660.5_Silent_p.L58L|FBXL17_ENST00000496714.1_Silent_p.L58L NM_001163315.2 NP_001156787.2 Q9UF56 FXL17_HUMAN F-box and leucine-rich repeat protein 17 456 endometrium(1)|large_intestine(4)|lung(1) 6 all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10) TTACCTGCTTGAGTCCTTCAT 0.343000 19 60 0 0 0.008871 0 0 DMD 1756 broad.mit.edu 37 X 31986604 31986604 + Missense_Mutation SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:31986604G>T ENST00000357033.4 - 45 6672 c.6466C>A c.(6466-6468)Caa>Aaa p.Q2156K DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.Q2152K|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000343523.2_5'UTR NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2156 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) ACAACAGTTTGCCGCTGCCCA 0.393000 20 53 1.37657e-19 1.49456e-19 0.012319 1 0 SASH3 54440 broad.mit.edu 37 X 128926786 128926786 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:128926786G>A ENST00000356892.3 + 6 889 c.775G>A c.(775-777)Gag>Aag p.E259K NM_018990.3 NP_061863.1 O75995 SASH3_HUMAN SAM and SH3 domain containing 3 259 SAM. breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 12 GACCCTGCATGAGCTGCTGGA 0.607000 13 15 0 0 0.013537 0 0 AHNAK 79026 broad.mit.edu 37 11 62291157 62291157 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:62291157C>T ENST00000378024.4 - 5 11006 c.10732G>A c.(10732-10734)Gat>Aat p.D3578N AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3578 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CCTTTGATATCAACCTCTGGC 0.468000 55 162 0 0 0.014410 0 0 ZNF44 51710 broad.mit.edu 37 19 12383859 12383859 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:12383859G>A ENST00000356109.5 - 5 1473 c.1355C>T c.(1354-1356)tCt>tTt p.S452F ZNF44_ENST00000355684.5_Missense_Mutation_p.S404F NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) TACACTAGGAGAATCAAAGGC 0.453000 10 42 0 0 0.008291 0 0 SAFB2 9667 broad.mit.edu 37 19 5622555 5622555 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:5622555C>G ENST00000252542.4 - 1 436 c.172G>C c.(172-174)Gag>Cag p.E58Q NM_014649.2 NP_055464.1 Q14151 SAFB2_HUMAN scaffold attachment factor B2 58 SAP. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) TTGAGCCGCTCCATCAGGACG 0.731000 8 12 0 0 0.003080 0 0 RP11-192H23.4 0 broad.mit.edu 37 17 26940613 26940613 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:26940613C>T ENST00000534850.1 - 2 200 c.169G>A c.(169-171)Gaa>Aaa p.E57K SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.4_ENST00000577790.1_Missense_Mutation_p.E56K|SGK494_ENST00000301037.5_Missense_Mutation_p.E57K|SPAG5-AS1_ENST00000424210.1_RNA|SGK494_ENST00000469832.3_5'UTR endometrium(2)|kidney(2) 4 CCCCGTAGTTCCCAGAGTTCT 0.582000 OREG0024279 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 81 0 0 0.003080 0 0 P2RY10 27334 broad.mit.edu 37 X 78216233 78216233 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:78216233C>G ENST00000171757.2 + 4 496 c.216C>G c.(214-216)ttC>ttG p.F72L P2RY10_ENST00000475374.1_3'UTR|P2RY10_ENST00000544091.1_Missense_Mutation_p.F72L NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 72 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 CCATCATTTTCATGATCAACC 0.458000 12 101 0 0 0.001855 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102472491 102472491 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:102472491C>T ENST00000321521.9 + 4 939 c.366C>T c.(364-366)atC>atT p.I122I PPIP5K2_ENST00000358359.3_Silent_p.I122I|PPIP5K2_ENST00000414217.1_Silent_p.I122I|PPIP5K2_ENST00000513500.1_3'UTR O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 122 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CATTTGTAATCAATGACTTGA 0.338000 42 135 0 0 0.014410 0 0 GNL2 29889 broad.mit.edu 37 1 38040301 38040301 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:38040301C>G ENST00000373062.3 - 11 1365 c.1267G>C c.(1267-1269)Gag>Cag p.E423Q NM_013285.2 NP_037417.1 Q13823 NOG2_HUMAN guanine nucleotide binding protein-like 2 (nucleolar) 423 ribosome biogenesis nucleolus GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 30 Myeloproliferative disorder(586;0.0393) GCGAGCTTCTCAAGAAAGTCC 0.428000 18 28 0 0 0.010504 0 0 C1orf158 93190 broad.mit.edu 37 1 12819396 12819396 + Missense_Mutation SNP G G C rs148059585 TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:12819396G>C ENST00000288048.5 + 3 595 c.379G>C c.(379-381)Gag>Cag p.E127Q C1orf158_ENST00000376210.3_Missense_Mutation_p.E89Q NM_152290.2 NP_689503.2 Q8N1D5 CA158_HUMAN chromosome 1 open reading frame 158 127 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) GTGGCTGCCAGAGAAGTCTGA 0.522000 13 50 0 0 0.003163 0 0 HIST1H3E 8353 broad.mit.edu 37 6 26225488 26225488 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:26225488G>A ENST00000360408.1 + 1 106 c.106G>A c.(106-108)Gtg>Atg p.V36M NM_003532.2 NP_003523.1 P68431 H31_HUMAN histone cluster 1, H3e 36 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(5)|skin(1) 8 all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351) CACGGGCGGCGTGAAGAAGCC 0.622000 31 24 0 0 0.007291 0 0 CYB561 1534 broad.mit.edu 37 17 61512584 61512584 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:61512584G>A ENST00000584031.1 - 5 772 c.473C>T c.(472-474)tCt>tTt p.S158F CYB561_ENST00000392975.2_Silent_p.F142F|CYB561_ENST00000582997.1_Silent_p.F149F|CYB561_ENST00000582297.1_Silent_p.F142F|CYB561_ENST00000582034.1_Silent_p.F113F|CYB561_ENST00000581573.1_Silent_p.F142F|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000542042.1_Silent_p.F209F|CYB561_ENST00000448884.2_Intron|CYB561_ENST00000392976.1_Silent_p.F142F|CYB561_ENST00000360793.3_Silent_p.F142F P49447 CY561_HUMAN cytochrome b561 0 Cytochrome b561. electron transport chain|transport integral to plasma membrane cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding lung(2)|ovary(1)|prostate(1) 4 READ - Rectum adenocarcinoma(1115;0.0689) GGAACAGGAAGAAGCTGAAGC 0.642000 11 43 0 0 0.013537 0 0 ZNF345 25850 broad.mit.edu 37 19 37368436 37368436 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:37368436G>C ENST00000529555.1 + 2 1492 c.704G>C c.(703-705)tGt>tCt p.C235S ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.C235S|ZNF345_ENST00000420450.1_Missense_Mutation_p.C235S|ZNF345_ENST00000432005.2_Intron Q14585 ZN345_HUMAN zinc finger protein 345 235 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1) 24 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGCAAAGCATGTGGAATGGCC 0.418000 19 57 0 0 0.007413 0 0 COPA 1314 broad.mit.edu 37 1 160281696 160281696 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:160281696G>A ENST00000241704.7 - 11 1267 c.1038C>T c.(1036-1038)ttC>ttT p.F346F COPA_ENST00000368069.3_Silent_p.F346F NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 346 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGGAGCTGTTGAAATCCAGCT 0.473000 6 28 0 0 0.001168 0 0 ADCY6 112 broad.mit.edu 37 12 49171950 49171950 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:49171950G>C ENST00000307885.4 - 2 1649 c.955C>G c.(955-957)Cag>Gag p.Q319E ADCY6_ENST00000550422.1_Missense_Mutation_p.Q319E|ADCY6_ENST00000357869.3_Missense_Mutation_p.Q319E NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 319 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 CGGGTCTCCTGAAAGGCCTGG 0.632000 5 18 0 0 0.000602 0 0 TPRA1 131601 broad.mit.edu 37 3 127298673 127298673 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:127298673G>A ENST00000355552.3 - 3 544 c.168C>T c.(166-168)ctC>ctT p.L56L TPRA1_ENST00000296210.7_Silent_p.L56L|TPRA1_ENST00000489960.1_Silent_p.L56L|TPRA1_ENST00000450633.2_Silent_p.L56L NM_001136053.1 NP_001129525.1 Q86W33 TPRA1_HUMAN transmembrane protein, adipocyte asscociated 1 56 aging|lipid metabolic process integral to membrane G-protein coupled receptor activity endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 9 AGATGAGGAAGAGCACATTGG 0.582000 4 43 0 0 0.009096 0 0 KLC1 3831 broad.mit.edu 37 14 104129155 104129155 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:104129155G>A ENST00000389744.4 + 5 957 c.688G>A c.(688-690)Gag>Aag p.E230K KLC1_ENST00000557450.1_Missense_Mutation_p.E230K|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.E402K|KLC1_ENST00000380038.3_Missense_Mutation_p.E230K|KLC1_ENST00000554280.1_Missense_Mutation_p.E230K|KLC1_ENST00000555836.1_Missense_Mutation_p.E230K|KLC1_ENST00000452929.2_Missense_Mutation_p.E230K|KLC1_ENST00000347839.6_Missense_Mutation_p.E230K|KLC1_ENST00000557575.1_Missense_Mutation_p.E230K|KLC1_ENST00000348520.6_Missense_Mutation_p.E230K|KLC1_ENST00000334553.6_Missense_Mutation_p.E230K|KLC1_ENST00000246489.7_Missense_Mutation_p.E230K|KLC1_ENST00000445352.4_Missense_Mutation_p.E230K|KLC1_ENST00000553286.1_Missense_Mutation_p.E230K Q07866 KLC1_HUMAN kinesin light chain 1 230 blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding KLC1/ALK(2) NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 12 Melanoma(154;0.155)|all_epithelial(191;0.19) GGGGCGCTACGAGGTAGCTGT 0.672000 9 19 0 0 0.006214 0 0 PGK2 5232 broad.mit.edu 37 6 49754450 49754450 + Nonsense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:49754450G>A ENST00000304801.3 - 1 603 c.451C>T c.(451-453)Cga>Tga p.R151* NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 151 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) AGTGATGCTCGGAAGGCTTCT 0.502000 20 52 0 0 0.002780 0 0 EIF3G 8666 broad.mit.edu 37 19 10226442 10226442 + Missense_Mutation SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:10226442G>T ENST00000253108.4 - 9 800 c.758C>A c.(757-759)aCc>aAc p.T253N NM_003755.3 NP_003746.2 O75821 EIF3G_HUMAN eukaryotic translation initiation factor 3, subunit G 253 RRM. cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity central_nervous_system(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05) CTGCAGGTCGGTCTCACGCGT 0.632000 17 57 2.94398e-08 3.12927e-08 0.007413 1 0 EIF4G1 1981 broad.mit.edu 37 3 184039824 184039824 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:184039824C>T ENST00000342981.4 + 9 1866 c.1452C>T c.(1450-1452)ctC>ctT p.L484L EIF4G1_ENST00000414031.1_Silent_p.L444L|EIF4G1_ENST00000352767.3_Silent_p.L491L|EIF4G1_ENST00000424196.1_Silent_p.L491L|EIF4G1_ENST00000319274.6_Silent_p.L484L|EIF4G1_ENST00000435046.2_Silent_p.L288L|EIF4G1_ENST00000411531.1_Silent_p.L444L|EIF4G1_ENST00000350481.5_Silent_p.L320L|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Silent_p.L484L|EIF4G1_ENST00000382330.3_Silent_p.L491L|EIF4G1_ENST00000427845.1_Silent_p.L397L|EIF4G1_ENST00000392537.2_Silent_p.L397L|EIF4G1_ENST00000434061.2_Silent_p.L288L|EIF4G1_ENST00000441154.1_Silent_p.L320L NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 484 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGGAACTGCTCCCCCCAGAGA 0.537000 18 49 0 0 0.010504 0 0 ERF 2077 broad.mit.edu 37 19 42753748 42753748 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:42753748G>A ENST00000222329.4 - 4 673 c.516C>T c.(514-516)ctC>ctT p.L172L ERF_ENST00000440177.2_Silent_p.L97L|AC006486.9_ENST00000594664.1_Intron NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 172 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) CAGCCGAGAAGAGGGAAGATG 0.657000 13 58 0 0 0.002450 0 0 DRD2 1813 broad.mit.edu 37 11 113281596 113281596 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:113281596C>T ENST00000362072.3 - 8 1529 c.1185G>A c.(1183-1185)ctG>ctA p.L395L DRD2_ENST00000538967.1_Silent_p.L397L|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000355319.2_Silent_p.L397L|DRD2_ENST00000346454.3_Silent_p.L366L|DRD2_ENST00000542968.1_Silent_p.L395L|DRD2_ENST00000544518.1_Silent_p.L394L NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 395 activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) AGTGTATGTTCAGGATGTGTG 0.602000 12 42 0 0 0.002450 0 0 ARPC1B 10095 broad.mit.edu 37 7 98992106 98992106 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:98992106C>G ENST00000451682.1 + 12 1422 c.1113C>G c.(1111-1113)atC>atG p.I371M PDAP1_ENST00000496335.1_Intron|ARPC1B_ENST00000252725.5_Missense_Mutation_p.I371M O15143 ARC1B_HUMAN actin related protein 2/3 complex, subunit 1B, 41kDa 371 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1) 11 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) ACCTCAAGATCAAATGACCTG 0.572000 15 52 0 0 0.004990 0 0 ZNF609 23060 broad.mit.edu 37 15 64791723 64791723 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:64791723C>T ENST00000326648.3 + 1 233 c.105C>T c.(103-105)atC>atT p.I35I ZNF609_ENST00000416172.1_Silent_p.I35I NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 35 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGAATCTCATCATTGACCTGG 0.547000 16 61 0 0 0.004990 0 0 NKX3-1 4824 broad.mit.edu 37 8 23538827 23538827 + Silent SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:23538827G>C ENST00000380871.4 - 2 649 c.612C>G c.(610-612)gcC>gcG p.A204A NKX3-1_ENST00000523261.1_Silent_p.A129A NM_006167.3 NP_006158.2 Q99801 NKX31_HUMAN NK3 homeobox 1 204 negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter nucleus estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding large_intestine(3)|lung(4)|prostate(5)|skin(2) 14 Prostate(55;0.114) Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708) CCCGGGAGAAGGCCTCCTCTT 0.562000 4 44 0 0 0.009096 0 0 GRIA1 2890 broad.mit.edu 37 5 153026577 153026577 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:153026577C>T ENST00000285900.5 + 3 653 c.310C>T c.(310-312)Ctc>Ttc p.L104F GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000340592.5_Missense_Mutation_p.L104F|GRIA1_ENST00000518783.1_Missense_Mutation_p.L114F|GRIA1_ENST00000448073.4_Missense_Mutation_p.L114F|GRIA1_ENST00000521843.2_Missense_Mutation_p.L35F|GRIA1_ENST00000518142.1_Intron NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 104 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TTGTGGGGCCCTCCACGTCTG 0.498000 29 82 0 0 0.008361 0 0 KRT74 121391 broad.mit.edu 37 12 52967185 52967185 + Missense_Mutation SNP T T C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:52967185T>C ENST00000549343.1 - 1 415 c.377A>G c.(376-378)aAc>aGc p.N126S KRT74_ENST00000305620.2_Missense_Mutation_p.N126S Q7RTS7 K2C74_HUMAN keratin 74 126 Head. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) CAGCTCCACGTTGAGGGGGGC 0.597000 26 65 0 0 0.006320 0 0 C1orf173 127254 broad.mit.edu 37 1 75055435 75055435 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:75055435C>T ENST00000326665.5 - 12 2274 c.2056G>A c.(2056-2058)Gag>Aag p.E686K C1orf173_ENST00000420661.2_Missense_Mutation_p.E489K|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 686 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CCGGACTTCTCAGATAAACCC 0.443000 16 102 0 0 0.003163 0 0 EIF4G1 1981 broad.mit.edu 37 3 184039888 184039888 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:184039888C>G ENST00000342981.4 + 9 1930 c.1516C>G c.(1516-1518)Caa>Gaa p.Q506E EIF4G1_ENST00000414031.1_Missense_Mutation_p.Q466E|EIF4G1_ENST00000352767.3_Missense_Mutation_p.Q513E|EIF4G1_ENST00000424196.1_Missense_Mutation_p.Q513E|EIF4G1_ENST00000319274.6_Missense_Mutation_p.Q506E|EIF4G1_ENST00000435046.2_Missense_Mutation_p.Q310E|EIF4G1_ENST00000411531.1_Missense_Mutation_p.Q466E|EIF4G1_ENST00000350481.5_Missense_Mutation_p.Q342E|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Missense_Mutation_p.Q506E|EIF4G1_ENST00000382330.3_Missense_Mutation_p.Q513E|EIF4G1_ENST00000427845.1_Missense_Mutation_p.Q419E|EIF4G1_ENST00000392537.2_Missense_Mutation_p.Q419E|EIF4G1_ENST00000434061.2_Missense_Mutation_p.Q310E|EIF4G1_ENST00000441154.1_Missense_Mutation_p.Q342E NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 506 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGCAGCCACTCAAGGTAAGGT 0.547000 14 55 0 0 0.006122 0 0 RGS12 6002 broad.mit.edu 37 4 3317944 3317944 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:3317944C>T ENST00000336727.3 + 2 951 c.47C>T c.(46-48)tCg>tTg p.S16L RGS12_ENST00000344733.5_Missense_Mutation_p.S16L|RGS12_ENST00000543385.1_Missense_Mutation_p.S16L|RGS12_ENST00000382788.3_Missense_Mutation_p.S16L NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 16 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CCTGGGCCGTCGCCCCCAAGG 0.607000 25 94 0 0 0.007291 0 0 RASA3 22821 broad.mit.edu 37 13 114781703 114781703 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:114781703C>T ENST00000334062.7 - 13 1372 c.1251G>A c.(1249-1251)ttG>ttA p.L417L RASA3_ENST00000389544.4_Silent_p.L385L NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 417 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity p.L417L(1)|p.L417F(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) CTCCGTCTTTCAACTTCACAG 0.517000 10 44 0 0 0.010729 0 0 SMPD4 55627 broad.mit.edu 37 2 130911298 130911298 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:130911298C>T ENST00000409031.1 - 17 3135 c.1987G>A c.(1987-1989)Gag>Aag p.E663K SMPD4_ENST00000453750.1_Missense_Mutation_p.E412K|SMPD4_ENST00000426662.2_Missense_Mutation_p.E299K|SMPD4_ENST00000351288.6_Missense_Mutation_p.E634K|SMPD4_ENST00000431183.2_Missense_Mutation_p.E561K|SMPD4_ENST00000452225.2_Missense_Mutation_p.E404K|SMPD4_ENST00000443958.2_Missense_Mutation_p.E327K|SMPD4_ENST00000339679.7_Missense_Mutation_p.E521K NM_017951.4 NP_060421.2 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 624 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) CGCAGGTACTCCAGGGCCTTC 0.597000 6 45 0 0 0.004482 0 0 LRRC36 55282 broad.mit.edu 37 16 67405069 67405069 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:67405069G>C ENST00000329956.6 + 9 1437 c.1418G>C c.(1417-1419)aGa>aCa p.R473T LRRC36_ENST00000563189.1_Missense_Mutation_p.R352T|LRRC36_ENST00000435835.3_Missense_Mutation_p.R352T|LRRC36_ENST00000290940.7_Missense_Mutation_p.R205T|LRRC36_ENST00000541146.1_5'UTR NM_018296.5 NP_060766.5 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 473 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) CCATCGAAGAGAGGATTCAAA 0.468000 23 90 0 0 0.002780 0 0 TTC16 158248 broad.mit.edu 37 9 130486622 130486622 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:130486622G>A ENST00000373289.3 + 8 1176 c.1096G>A c.(1096-1098)Gga>Aga p.G366R PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_Missense_Mutation_p.G190R NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 366 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 GCAGGAGAAAGGACTCTACAT 0.662000 6 23 0 0 0.001984 0 0 ZNF678 339500 broad.mit.edu 37 1 227842557 227842557 + Missense_Mutation SNP T T G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:227842557T>G ENST00000343776.4 + 4 951 c.606T>G c.(604-606)atT>atG p.I202M ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.I257M F5GXA7 F5GXA7_HUMAN zinc finger protein 678 257 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) ATAAGAAAATTCATAGTGGAG 0.368000 39 116 0 0 0.009718 0 0 IRAK2 3656 broad.mit.edu 37 3 10264469 10264469 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:10264469G>A ENST00000256458.4 + 9 1253 c.1163G>A c.(1162-1164)cGg>cAg p.R388Q NM_001570.3 NP_001561.3 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 388 Protein kinase. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 GATTTCATCCGGGTGGGGCAG 0.527000 22 72 0 0 0.004656 0 0 RPN2 6185 broad.mit.edu 37 20 35827507 35827507 + Missense_Mutation SNP T T A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr20:35827507T>A ENST00000237530.6 + 4 669 c.358T>A c.(358-360)Tca>Aca p.S120T RPN2_ENST00000373622.5_Missense_Mutation_p.S88T NM_002951.3 NP_002942.2 P04844 RPN2_HUMAN ribophorin II 120 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1) 24 Myeloproliferative disorder(115;0.00878) CAGTGAGGACTCATCTGTTAC 0.478000 22 69 0 0 0.010504 0 0 TRUB2 26995 broad.mit.edu 37 9 131084583 131084583 + Silent SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:131084583C>G ENST00000372890.4 - 1 438 c.105G>C c.(103-105)ctG>ctC p.L35L TRUB2_ENST00000460320.1_5'UTR NM_015679.1 NP_056494.1 O95900 TRUB2_HUMAN TruB pseudouridine (psi) synthase family member 2 35 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding p.L35L(1) kidney(2)|large_intestine(2)|lung(3)|ovary(1) 8 ACTCACCCTTCAGAAGTTGTA 0.562000 7 62 0 0 0.003080 0 0 PLXND1 23129 broad.mit.edu 37 3 129324855 129324855 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:129324855C>T ENST00000393239.1 - 1 806 c.628G>A c.(628-630)Ggc>Agc p.G210S PLXND1_ENST00000324093.4_Missense_Mutation_p.G210S Q9Y4D7 PLXD1_HUMAN plexin D1 210 Sema. axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 TACGTGGCGCCCACGAGCAGG 0.711000 3 12 0 0 0.004672 0 0 ANKRD12 23253 broad.mit.edu 37 18 9256444 9256444 + Nonsense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr18:9256444C>G ENST00000383440.2 + 8 3367 c.3110C>G c.(3109-3111)tCa>tGa p.S1037* ANKRD12_ENST00000262126.3_Nonsense_Mutation_p.S1060*|ANKRD12_ENST00000400020.3_Nonsense_Mutation_p.S1037* NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 1060 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 TCACCAGCATCAAAAGATACC 0.333000 24 106 0 0 0.005443 0 0 C14orf166B 145497 broad.mit.edu 37 14 77319682 77319682 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:77319682G>C ENST00000393774.3 + 9 1061 c.937G>C c.(937-939)Gac>Cac p.D313H NM_194287.2 NP_919263.2 Q0VAA2 CN16B_HUMAN chromosome 14 open reading frame 166B 313 breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) CGGTGGCAATGACATCGGCAA 0.532000 12 36 0 0 0.010729 0 0 CCDC40 55036 broad.mit.edu 37 17 78063659 78063659 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:78063659G>A ENST00000397545.4 + 17 2835 c.2808G>A c.(2806-2808)atG>atA p.M936I CCDC40_ENST00000374877.3_Missense_Mutation_p.M936I|CCDC40_ENST00000573903.1_3'UTR NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 936 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm p.M936N(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) TCCGGGCCATGAAGGGCGAGA 0.582000 6 29 0 0 0.001984 0 0 HK2 3099 broad.mit.edu 37 2 75100416 75100416 + Nonsense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:75100416C>G ENST00000290573.2 + 5 1109 c.509C>G c.(508-510)tCa>tGa p.S170* HK2_ENST00000409174.1_Nonsense_Mutation_p.S142* NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 170 Regulatory. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 TTCCTGGTCTCATGGACCAAG 0.522000 17 94 0 0 0.007413 0 0 TMEM252 169693 broad.mit.edu 37 9 71152191 71152191 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:71152191C>T ENST00000377311.3 - 2 549 c.497G>A c.(496-498)cGa>cAa p.R166Q NM_153237.1 NP_694969.1 transmembrane protein 252 CTCTTGGCCTCGCCTCTGGGC 0.562000 4 41 0 0 0.000602 0 0 GABRA1 2554 broad.mit.edu 37 5 161324342 161324342 + Missense_Mutation SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:161324342C>A ENST00000428797.2 + 11 1640 c.1285C>A c.(1285-1287)Ctg>Atg p.L429M GABRA1_ENST00000444819.1_Missense_Mutation_p.L429M|GABRA1_ENST00000420560.1_Missense_Mutation_p.L429M|GABRA1_ENST00000437025.2_Missense_Mutation_p.L429M|GABRA1_ENST00000393943.4_Missense_Mutation_p.L429M|GABRA1_ENST00000023897.6_Missense_Mutation_p.L429M NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 429 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) AGCCTTCCCGCTGCTATTTGG 0.428000 24 101 7.87624e-14 8.47568e-14 0.002780 1 0 L2HGDH 79944 broad.mit.edu 37 14 50734600 50734600 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:50734600C>T ENST00000267436.4 - 8 1332 c.935G>A c.(934-936)gGa>gAa p.G312E L2HGDH_ENST00000261699.4_Missense_Mutation_p.G312E|L2HGDH_ENST00000421284.3_Missense_Mutation_p.G312E Q9H9P8 L2HDH_HUMAN L-2-hydroxyglutarate dehydrogenase 312 2-oxoglutarate metabolic process|cellular protein metabolic process integral to mitochondrial inner membrane 2-hydroxyglutarate dehydrogenase activity kidney(1)|large_intestine(4)|lung(3)|ovary(2) 10 all_epithelial(31;0.000599)|Breast(41;0.0102) GAAGTGAACTCCTAGGAAAGG 0.423000 27 65 0 0 0.007291 0 0 SNTB1 6641 broad.mit.edu 37 8 121823703 121823703 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:121823703G>C ENST00000395601.3 - 2 795 c.381C>G c.(379-381)atC>atG p.I127M SNTB1_ENST00000517992.1_Missense_Mutation_p.I127M|SNTB1_ENST00000519177.1_5'UTR NM_021021.3 NP_066301.1 Q13884 SNTB1_HUMAN syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) 127 PDZ.|PH 1. muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6) 24 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) TGCCCCCCTTGATGCTGATCC 0.632000 10 20 0 0 0.010729 0 0 MTF1 4520 broad.mit.edu 37 1 38323027 38323027 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:38323027G>C ENST00000373036.4 - 2 444 c.304C>G c.(304-306)Cag>Gag p.Q102E MTF1_ENST00000468190.1_5'UTR NM_005955.2 NP_005946.2 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 102 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AAATGAATCTGATCTGGTGAG 0.453000 19 63 0 0 0.008871 0 0 CKMT1B 1159 broad.mit.edu 37 15 43891383 43891383 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:43891383G>C ENST00000300283.6 + 10 1558 c.1166G>C c.(1165-1167)gGa>gCa p.G389A CKMT1B_ENST00000441322.1_Missense_Mutation_p.G389A NM_020990.3 NP_066270.1 P12532 KCRU_HUMAN creatine kinase, mitochondrial 1B 389 Phosphagen kinase C-terminal. creatine metabolic process mitochondrial inner membrane ATP binding|creatine kinase activity large_intestine(1)|lung(3)|skin(1) 5 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) Creatine(DB00148) GTCATCGATGGAGTAAACTAT 0.488000 55 119 0 0 0.014410 0 0 TARDBP 23435 broad.mit.edu 37 1 11077026 11077026 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:11077026G>A ENST00000240185.3 + 3 478 c.364G>A c.(364-366)Gag>Aag p.E122K TARDBP_ENST00000315091.3_Missense_Mutation_p.E122K|TARDBP_ENST00000439080.2_Intron NM_007375.3 NP_031401.1 Q13148 TADBP_HUMAN TAR DNA binding protein 122 RRM 1. 3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2) 11 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0578) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487) GGACCTGAAAGAGTATTTTAG 0.383000 21 78 0 0 0.012319 0 0 SERTAD4 56256 broad.mit.edu 37 1 210415084 210415084 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:210415084G>A ENST00000367012.3 + 4 703 c.473G>A c.(472-474)gGc>gAc p.G158D SERTAD4_ENST00000490620.1_3'UTR NM_019605.3 NP_062551.1 Q9NUC0 SRTD4_HUMAN SERTA domain containing 4 158 protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) TCTTTCAATGGCACCTCTGCC 0.453000 42 97 0 0 0.006999 0 0 DKK3 27122 broad.mit.edu 37 11 11988594 11988594 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:11988594G>A ENST00000396505.2 - 6 818 c.580C>T c.(580-582)Cac>Tac p.H194Y DKK3_ENST00000527132.1_Intron|DKK3_ENST00000450094.2_Missense_Mutation_p.H166Y|DKK3_ENST00000326932.4_Missense_Mutation_p.H194Y|DKK3_ENST00000525493.1_Missense_Mutation_p.H194Y NM_015881.5 NP_056965.3 Q9UBP4 DKK3_HUMAN dickkopf WNT signaling pathway inhibitor 3 194 DKK-type Cys-1. adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway extracellular space breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1) 8 Epithelial(150;0.000502) TTGGTGCAGTGACCCCAGACA 0.622000 OREG0020766 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 41 0 0 0.006122 0 0 INPP5D 3635 broad.mit.edu 37 2 234104054 234104054 + Missense_Mutation SNP A A G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:234104054A>G ENST00000359570.5 + 26 2570 c.2570A>G c.(2569-2571)aAg>aGg p.K857R INPP5D_ENST00000450745.1_Missense_Mutation_p.K621R|INPP5D_ENST00000455936.2_Missense_Mutation_p.K621R Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 869 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GACTTTGTGAAGACGGAGCGT 0.562000 15 50 0 0 0.002450 0 0 DDX24 57062 broad.mit.edu 37 14 94528623 94528623 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:94528623C>G ENST00000330836.5 - 3 1194 c.1063G>C c.(1063-1065)Gag>Cag p.E355Q DDX24_ENST00000555054.1_Missense_Mutation_p.E312Q|DDX24_ENST00000544005.1_Missense_Mutation_p.E105Q NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 355 Helicase ATP-binding. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) TCCTCATTCTCATTCTGTTTG 0.483000 23 70 0 0 0.002780 0 0 GEMIN4 50628 broad.mit.edu 37 17 649539 649539 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:649539G>C ENST00000576778.1 - 1 3052 c.1711C>G c.(1711-1713)Ctc>Gtc p.L571V GEMIN4_ENST00000319004.5_Missense_Mutation_p.L582V P57678 GEMI4_HUMAN gem (nuclear organelle) associated protein 4 582 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) AAGGCAGTGAGAATCTGGGCC 0.547000 16 41 0 0 0.004007 0 0 CACNA1G 8913 broad.mit.edu 37 17 48646576 48646576 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:48646576G>C ENST00000352832.5 + 3 777 c.405G>C c.(403-405)aaG>aaC p.K135N CACNA1G_ENST00000507510.2_Missense_Mutation_p.K135N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.K135N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.K135N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.K135N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.K135N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.K135N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.K135N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.K135N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.K135N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.K135N NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 135 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TGGTGGTGAAGATGGTGGCCT 0.527000 9 32 0 0 0.004482 0 0 ZNF418 147686 broad.mit.edu 37 19 58439254 58439254 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:58439254C>T ENST00000396147.1 - 4 586 c.295G>A c.(295-297)Gat>Aat p.D99N ZNF418_ENST00000595830.1_Missense_Mutation_p.D99N|ZNF418_ENST00000599852.1_Missense_Mutation_p.D14N|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Missense_Mutation_p.D120N NM_133460.1 NP_597717.1 Q8TF45 ZN418_HUMAN zinc finger protein 418 99 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) CCCTGATGATCTGCCAAGTGC 0.512000 21 92 0 0 0.003330 0 0 AHNAK 79026 broad.mit.edu 37 11 62286412 62286412 + Silent SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:62286412C>G ENST00000378024.4 - 5 15751 c.15477G>C c.(15475-15477)ctG>ctC p.L5159L AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5159 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TGGGGCCTTTCAGGTCACCCT 0.522000 9 44 0 0 0.006214 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102455173 102455173 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:102455173G>C ENST00000360184.4 + 10 3016 c.2852G>C c.(2851-2853)gGa>gCa p.G951A NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 951 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 AAGCCTGGTGGAGAGCCAAAG 0.428000 11 30 0 0 0.010729 0 0 CACNA2D1 781 broad.mit.edu 37 7 81598239 81598239 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:81598239C>T ENST00000356860.3 - 29 2697 c.2359G>A c.(2359-2361)Gaa>Aaa p.E787K CACNA2D1_ENST00000356253.5_Missense_Mutation_p.E799K|CACNA2D1_ENST00000535308.1_Intron NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 799 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) ATATATATTTCTACAGCTTTG 0.269000 16 76 0 0 0.004990 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766385 77766385 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:77766385G>A ENST00000521891.2 + 10 7676 c.7228G>A c.(7228-7230)Gca>Aca p.A2410T ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2365T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2365T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2384T NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2365 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A2394T(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGAATATCCCGCAGAAAAGCC 0.567000 HNSCC(33;0.089) 3 12 0 0 0.004672 0 0 SI 6476 broad.mit.edu 37 3 164733862 164733862 + Nonsense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:164733862G>A ENST00000264382.3 - 32 3828 c.3766C>T c.(3766-3768)Cag>Tag p.Q1256* NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1256 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.Q1256E(2) NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TCTGTGTACTGAACATCCTGA 0.333000 HNSCC(35;0.089) 24 75 0 0 0.006320 0 0 TTC18 118491 broad.mit.edu 37 10 75051064 75051064 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:75051064C>G ENST00000310715.3 - 20 2489 c.2369G>C c.(2368-2370)aGa>aCa p.R790T TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_Missense_Mutation_p.R259T|TTC18_ENST00000401621.2_Missense_Mutation_p.R790T|TTC18_ENST00000394865.1_Missense_Mutation_p.R790T NM_145170.3 NP_660153.3 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 790 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) TCTCTTCCCTCTTTCCTCAGT 0.493000 23 121 0 0 0.002780 0 0 EXPH5 23086 broad.mit.edu 37 11 108384448 108384448 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:108384448C>T ENST00000265843.4 - 6 1896 c.1786G>A c.(1786-1788)Gag>Aag p.E596K EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Missense_Mutation_p.E520K|EXPH5_ENST00000525344.1_Missense_Mutation_p.E589K|EXPH5_ENST00000443411.1_Missense_Mutation_p.E408K NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 596 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CTTACCAACTCACTAGATTTG 0.418000 6 85 0 0 0.001984 0 0 P2RX4 5025 broad.mit.edu 37 12 121670850 121670850 + Silent SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:121670850C>G ENST00000337233.4 + 11 1403 c.1095C>G c.(1093-1095)ctC>ctG p.L365L P2RX4_ENST00000543171.1_Silent_p.L264L|P2RX4_ENST00000359949.7_Silent_p.L381L NM_001261397.1|NM_001261398.1|NM_002560.2 NP_001248326.1|NP_001248327.1|NP_002551.2 Q99571 P2RX4_HUMAN purinergic receptor P2X, ligand-gated ion channel, 4 365 endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis cell junction|perinuclear region of cytoplasm cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGAAAAGACTCTACTATCGGG 0.512000 18 202 0 0 0.006122 0 0 PGM2L1 283209 broad.mit.edu 37 11 74056565 74056565 + Silent SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:74056565G>C ENST00000298198.4 - 9 1478 c.1167C>G c.(1165-1167)gtC>gtG p.V389V NM_173582.3 NP_775853.2 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 389 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(11;3.32e-06) TTTTAGAAGAGACTGTGGTGG 0.333000 10 52 0 0 0.008291 0 0 ABCB1 5243 broad.mit.edu 37 7 87179592 87179592 + Silent SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:87179592C>G ENST00000265724.3 - 13 1662 c.1245G>C c.(1243-1245)ctG>ctC p.L415L ABCB1_ENST00000543898.1_Silent_p.L351L NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 415 ABC transporter 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TCTGCACCTTCAGGTTCAGAC 0.502000 8 35 0 0 0.003080 0 0 LTB 4050 broad.mit.edu 37 6 31548552 31548552 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:31548552G>A ENST00000429299.2 - 4 676 c.669C>T c.(667-669)atC>atT p.I223I LTB_ENST00000483972.1_5'UTR|LTB_ENST00000446745.2_3'UTR NM_002341.1 NP_002332.1 Q06643 TNFC_HUMAN lymphotoxin beta (TNF superfamily, member 3) 223 cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 9 Infliximab(DB00065)|Simvastatin(DB00641) CGGGGTGACTGATGTTGACGT 0.622000 6 22 0 0 0.003080 0 0 NMT1 4836 broad.mit.edu 37 17 43159090 43159090 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:43159090G>A ENST00000592782.1 + 3 341 c.210G>A c.(208-210)gaG>gaA p.E70E NMT1_ENST00000258960.2_Silent_p.E70E|NMT1_ENST00000590114.1_3'UTR P30419 NMT1_HUMAN N-myristoyltransferase 1 70 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 8 Prostate(33;0.155) aaGGCAGTGAGACAGATTCAG 0.383000 5 7 0 0 0.000602 0 0 OLFM1 10439 broad.mit.edu 37 9 137990304 137990304 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:137990304G>C ENST00000252854.4 + 4 762 c.575G>C c.(574-576)aGa>aCa p.R192T OLFM1_ENST00000371796.3_Missense_Mutation_p.R183T|OLFM1_ENST00000371793.3_Missense_Mutation_p.R210T NM_014279.4 NP_055094.1 Q99784 NOE1_HUMAN olfactomedin 1 210 nervous system development endoplasmic reticulum lumen protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2) 21 Myeloproliferative disorder(178;0.0333) Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07) CTTCAGAGCAGAGTGTCCAAT 0.527000 15 56 0 0 0.006122 0 0 TMEM141 85014 broad.mit.edu 37 9 139686222 139686222 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:139686222C>T ENST00000290079.8 + 2 130 c.114C>T c.(112-114)ttC>ttT p.F38F TMEM141_ENST00000465017.1_3'UTR NM_032928.3 NP_116317.1 Q96I45 TM141_HUMAN transmembrane protein 141 38 integral to membrane large_intestine(1)|lung(2)|prostate(1) 4 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.67e-06)|Epithelial(140;0.000112) TTTTCACCTTCGTCACAGGTA 0.672000 OREG0019622 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 49 0 0 0.003755 0 0 SYTL5 94122 broad.mit.edu 37 X 37969686 37969686 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:37969686C>T ENST00000357972.5 + 13 2093 c.1547C>T c.(1546-1548)tCa>tTa p.S516L TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.S516L|SYTL5_ENST00000456733.2_Missense_Mutation_p.S538L Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 516 intracellular protein transport membrane metal ion binding|Rab GTPase binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 44 CCTTTTGACTCATGGAACTTT 0.438000 18 113 0 0 0.008871 0 0 FAM83B 222584 broad.mit.edu 37 6 54806332 54806332 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:54806332C>G ENST00000306858.7 + 5 2679 c.2563C>G c.(2563-2565)Caa>Gaa p.Q855E NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 855 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TAGCCCATCTCAAGAGATAAA 0.438000 7 34 0 0 0.004482 0 0 FAM20B 9917 broad.mit.edu 37 1 179041145 179041145 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:179041145G>A ENST00000263733.4 + 8 1432 c.1096G>A c.(1096-1098)Gtg>Atg p.V366M NM_014864.3 NP_055679.1 O75063 XYLK_HUMAN family with sequence similarity 20, member B 366 Golgi membrane|integral to membrane ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3) 14 CATCTCCCCAGTGCTCTCTGA 0.557000 35 89 0 0 0.005524 0 0 FBXO21 23014 broad.mit.edu 37 12 117603392 117603392 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:117603392C>T ENST00000427718.2 - 9 1298 c.1224G>A c.(1222-1224)ctG>ctA p.L408L FBXO21_ENST00000330622.5_Silent_p.L408L NM_015002.2|NM_033624.2 NP_055817.1|NP_296373.1 O94952 FBX21_HUMAN F-box protein 21 408 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity p.L408L(1) breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 29 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) GCGAGTCTCTCAGGAGCTGGT 0.507000 7 59 0 0 0.001984 0 0 PRPS2 5634 broad.mit.edu 37 X 12837668 12837668 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:12837668G>C ENST00000380668.5 + 5 701 c.573G>C c.(571-573)ttG>ttC p.L191F PRPS2_ENST00000398491.2_Missense_Mutation_p.L194F NM_001039091.2|NM_002765.4 NP_001034180.1|NP_002756.1 P11908 PRPS2_HUMAN phosphoribosyl pyrophosphate synthetase 2 191 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 16 AATTTGCTTTGATCCACAAAG 0.488000 36 120 0 0 0.013726 0 0 HTRA2 27429 broad.mit.edu 37 2 74757169 74757169 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:74757169G>C ENST00000258080.3 + 1 666 c.36G>C c.(34-36)tgG>tgC p.W12C HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Missense_Mutation_p.W12C NM_013247.4 NP_037379.1 O43464 HTRA2_HUMAN HtrA serine peptidase 2 12 apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 GTGCAGGCTGGAGCCTTCGGG 0.716000 10 39 0 0 0.008291 0 0 DLL3 10683 broad.mit.edu 37 19 39989650 39989650 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:39989650G>A ENST00000205143.4 + 1 43 c.36G>A c.(34-36)caG>caA p.Q12Q DLL3_ENST00000600579.1_3'UTR|DLL3_ENST00000356433.5_Silent_p.Q12Q NM_016941.3 NP_058637.1 Q9NYJ7 DLL3_HUMAN delta-like 3 (Drosophila) 12 Notch signaling pathway|skeletal system development integral to membrane Notch binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7) 19 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) TCCTCTCCCAGACTGTGATCC 0.617000 22 79 0 0 0.003330 0 0 MEDAG 84935 broad.mit.edu 37 13 31495235 31495235 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:31495235C>T ENST00000380482.4 + 3 798 c.473C>T c.(472-474)tCa>tTa p.S158L TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000590721.1_RNA NM_032849.3 NP_116238.2 mesenteric estrogen-dependent adipogenesis GTCATCTCCTCAGTGATTGGA 0.483000 4 22 0 0 0.000602 0 0 FCHSD2 9873 broad.mit.edu 37 11 72600885 72600885 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:72600885G>A ENST00000409314.1 - 12 1270 c.1102C>T c.(1102-1104)Cac>Tac p.H368Y FCHSD2_ENST00000311172.7_Missense_Mutation_p.H288Y|FCHSD2_ENST00000409418.4_Missense_Mutation_p.H344Y|FCHSD2_ENST00000409853.1_Missense_Mutation_p.H288Y|FCHSD2_ENST00000458644.2_Missense_Mutation_p.H208Y O94868 FCSD2_HUMAN FCH and double SH3 domains 2 344 protein binding endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1) 22 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) CGTTGTTGGTGAACAATGTTT 0.393000 7 12 0 0 0.001984 0 0 CSDE1 7812 broad.mit.edu 37 1 115282405 115282405 + Missense_Mutation SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:115282405G>T ENST00000438362.2 - 3 623 c.245C>A c.(244-246)tCt>tAt p.S82Y CSDE1_ENST00000534699.1_Missense_Mutation_p.S36Y|CSDE1_ENST00000530886.1_Intron|CSDE1_ENST00000369530.1_Missense_Mutation_p.S82Y|CSDE1_ENST00000339438.6_Missense_Mutation_p.S36Y|CSDE1_ENST00000261443.5_Missense_Mutation_p.S36Y|CSDE1_ENST00000358528.4_Missense_Mutation_p.S36Y NM_001242891.1 NP_001229820.1 O75534 CSDE1_HUMAN cold shock domain containing E1, RNA-binding 36 CSD 1. male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 51 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAATCCGTAAGAGGTTAACAG 0.408000 97 258 7.47877e-49 8.16354e-49 0.014410 1 0 UPP1 7378 broad.mit.edu 37 7 48147942 48147942 + Silent SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:48147942G>T ENST00000331803.4 + 10 1544 c.921G>T c.(919-921)ctG>ctT p.L307L UPP1_ENST00000395564.4_Silent_p.L307L|UPP1_ENST00000429491.2_Silent_p.L170L|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Silent_p.L307L Q16831 UPP1_HUMAN uridine phosphorylase 1 307 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 18 AGAAGAAACTGAGCAAGGCCT 0.567000 11 30 0.000673444 0.000692816 0.008291 1 0 LPAR4 2846 broad.mit.edu 37 X 78010707 78010707 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:78010707C>G ENST00000435339.2 + 2 746 c.341C>G c.(340-342)tCt>tGt p.S114C LPAR4_ENST00000373301.2_Missense_Mutation_p.S114C NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 114 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 TGCAAGATCTCTGGAACTGCA 0.433000 27 121 0 0 0.007291 0 0 NR1D2 9975 broad.mit.edu 37 3 24003755 24003755 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:24003755C>G ENST00000312521.4 + 5 1124 c.805C>G c.(805-807)Caa>Gaa p.Q269E NR1D2_ENST00000492552.1_3'UTR NM_001145425.1|NM_005126.4 NP_001138897.1|NP_005117.3 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 269 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 22 TATGTATAATCAAGAGCAGCA 0.423000 12 39 0 0 0.001855 0 0 CLSTN1 22883 broad.mit.edu 37 1 9795145 9795145 + Silent SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:9795145C>G ENST00000377298.4 - 14 2763 c.1971G>C c.(1969-1971)ctG>ctC p.L657L CLSTN1_ENST00000377288.3_Silent_p.L638L|CLSTN1_ENST00000361311.4_Silent_p.L647L NM_001009566.1 NP_001009566.1 O94985 CSTN1_HUMAN calsyntenin 1 657 homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) GGACGCCACTCAGGCTGATCT 0.542000 29 112 0 0 0.003271 0 0 STAT1 6772 broad.mit.edu 37 2 191859795 191859795 + Silent SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:191859795G>C ENST00000361099.3 - 10 1323 c.936C>G c.(934-936)ctC>ctG p.L312L STAT1_ENST00000409465.1_Silent_p.L312L|STAT1_ENST00000392322.3_Silent_p.L312L|STAT1_ENST00000392323.2_Silent_p.L314L|STAT1_ENST00000540176.1_3'UTR NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 312 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) ACCTCTGAATGAGCTGCTGGA 0.388000 7 44 0 0 0.003080 0 0 GBX1 2636 broad.mit.edu 37 7 150845999 150845999 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:150845999G>A ENST00000297537.4 - 2 768 c.769C>T c.(769-771)Cct>Tct p.P257S NM_001098834.1 NP_001092304.1 Q14549 GBX1_HUMAN gastrulation brain homeobox 1 257 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(5)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCCCCCCAGGAGCTGTGACC 0.582000 26 69 0 0 0.005443 0 0 OGFOD1 55239 broad.mit.edu 37 16 56492479 56492479 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:56492479G>A ENST00000566157.1 + 3 443 c.320G>A c.(319-321)aGa>aAa p.R107K OGFOD1_ENST00000568397.1_Missense_Mutation_p.R107K|OGFOD1_ENST00000565209.1_3'UTR NM_018233.3 NP_060703.3 Q8N543 OGFD1_HUMAN 2-oxoglutarate and iron-dependent oxygenase domain containing 1 107 iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 Vitamin C(DB00126) TTGAAGAAGAGAAGAGAGCCT 0.368000 7 31 0 0 0.003080 0 0 NSD1 64324 broad.mit.edu 37 5 176709577 176709577 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:176709577G>C ENST00000439151.2 + 19 6049 c.6004G>C c.(6004-6006)Gac>Cac p.D2002H NSD1_ENST00000361032.4_Missense_Mutation_p.D1899H|NSD1_ENST00000354179.4_Missense_Mutation_p.D1733H|NSD1_ENST00000347982.4_Missense_Mutation_p.D1733H NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 2002 SET. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GCTCACCCTAGACAAAGTAAG 0.388000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 23 66 0 0 0.002780 0 0 DCUN1D1 54165 broad.mit.edu 37 3 182683478 182683478 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:182683478C>T ENST00000292782.4 - 2 220 c.67G>A c.(67-69)Gaa>Aaa p.E23K DCUN1D1_ENST00000469954.1_Missense_Mutation_p.E8K NM_020640.2 NP_065691.2 Q96GG9 DCNL1_HUMAN DCN1, defective in cullin neddylation 1, domain containing 1 23 UBA-like. ubiquitin ligase complex protein binding endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GCTGTTTTTTCACTAGATTGT 0.323000 18 53 0 0 0.008871 0 0 FAM214A 56204 broad.mit.edu 37 15 52905993 52905993 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:52905993C>T ENST00000261844.7 - 3 230 c.78G>A c.(76-78)ctG>ctA p.L26L FAM214A_ENST00000546305.2_Silent_p.L33L NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 26 CTTCTGTTATCAGCAAGGCCA 0.408000 11 27 0 0 0.008291 0 0 KCNH6 81033 broad.mit.edu 37 17 61611639 61611639 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:61611639C>T ENST00000583023.1 + 5 1079 c.1068C>T c.(1066-1068)ttC>ttT p.F356F KCNH6_ENST00000580652.1_Silent_p.F356F|KCNH6_ENST00000314672.5_Silent_p.F356F|KCNH6_ENST00000581784.1_Silent_p.F356F|KCNH6_ENST00000456941.2_Silent_p.F356F NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 356 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) CCATCCCTTTCGACCTCCTGA 0.622000 15 36 0 0 0.002450 0 0 VPS13B 157680 broad.mit.edu 37 8 100779029 100779029 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:100779029G>A ENST00000358544.2 + 40 7264 c.7153G>A c.(7153-7155)Gaa>Aaa p.E2385K VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.E2360K NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2385 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ATACTGGGATGAACTCCAGAA 0.318000 14 36 0 0 0.003163 0 0 CCDC88A 55704 broad.mit.edu 37 2 55561259 55561259 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:55561259C>T ENST00000436346.1 - 15 3539 c.2698G>A c.(2698-2700)Gat>Aat p.D900N CCDC88A_ENST00000263630.8_Missense_Mutation_p.D900N|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D900N|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.D900N|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 900 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 GTTTTTATATCAATAGTTGCT 0.279000 10 27 0 0 0.008291 0 0 NBAS 51594 broad.mit.edu 37 2 15415720 15415720 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:15415720G>A ENST00000281513.5 - 44 5637 c.5612C>T c.(5611-5613)cCg>cTg p.P1871L NBAS_ENST00000441750.1_Missense_Mutation_p.P1751L NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1871 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 AAGCCACTCCGGTGAAGAGCC 0.478000 14 50 0 0 0.002450 0 0 PLXNB2 23654 broad.mit.edu 37 22 50724643 50724643 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr22:50724643G>C ENST00000449103.1 - 9 1976 c.1836C>G c.(1834-1836)ttC>ttG p.F612L PLXNB2_ENST00000359337.4_Missense_Mutation_p.F612L|PLXNB2_ENST00000496720.1_5'UTR O15031 PLXB2_HUMAN plexin B2 612 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGCAGTCGTAGAAGGGGTACT 0.627000 28 79 0 0 0.010818 0 0 STAT1 6772 broad.mit.edu 37 2 191859849 191859849 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:191859849G>C ENST00000361099.3 - 10 1269 c.882C>G c.(880-882)atC>atG p.I294M STAT1_ENST00000409465.1_Missense_Mutation_p.I294M|STAT1_ENST00000392322.3_Missense_Mutation_p.I294M|STAT1_ENST00000392323.2_Missense_Mutation_p.I296M|STAT1_ENST00000540176.1_3'UTR NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 294 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) TGTTTTTTGTGATAGGGTCAT 0.438000 7 49 0 0 0.003080 0 0 VPS53 55275 broad.mit.edu 37 17 455171 455171 + Nonsense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:455171G>A ENST00000437048.2 - 17 1953 c.1807C>T c.(1807-1809)Cag>Tag p.Q603* VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000571805.1_Nonsense_Mutation_p.Q603*|VPS53_ENST00000446250.2_Nonsense_Mutation_p.Q405*|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Nonsense_Mutation_p.Q326*|VPS53_ENST00000291074.5_Nonsense_Mutation_p.Q574* NM_001128159.2 NP_001121631.1 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 homolog (S. cerevisiae) 603 protein transport endosome membrane|Golgi apparatus breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1) 19 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) ACCAGCAGCTGAATACTGCTG 0.502000 5 9 0 0 0.001168 0 0 KCNK2 3776 broad.mit.edu 37 1 215368397 215368397 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:215368397G>A ENST00000444842.2 + 6 1075 c.925G>A c.(925-927)Gat>Aat p.D309N KCNK2_ENST00000391895.2_Missense_Mutation_p.D305N|KCNK2_ENST00000391894.2_Missense_Mutation_p.D294N NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 309 DWL -> RLV (in Ref. 3; AAD01203). outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) CATGATTGGAGATTGGCTCCG 0.373000 46 134 0 0 0.014410 0 0 OR1A1 8383 broad.mit.edu 37 17 3119610 3119610 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:3119610C>T ENST00000304094.1 + 1 696 c.696C>T c.(694-696)ggC>ggT p.G232G NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 CCACCAAGGGCGTGCTCAAGG 0.483000 35 108 0 0 0.013726 0 0 SFRP5 6425 broad.mit.edu 37 10 99527298 99527298 + Missense_Mutation SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:99527298G>T ENST00000266066.3 - 3 1045 c.927C>A c.(925-927)ttC>ttA p.F309L NM_003015.3 NP_003006.2 Q5T4F7 SFRP5_HUMAN secreted frizzled-related protein 5 309 apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception cytoplasm|extracellular space|plasma membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding large_intestine(1)|lung(4) 5 Colorectal(252;0.234) Epithelial(162;4.98e-10)|all cancers(201;3.58e-08) CCCCGTAGAAGAAAGGGTAGT 0.587000 5 21 0.00116845 0.00120003 0.001168 1 0 CHN2 1124 broad.mit.edu 37 7 29552289 29552289 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:29552289G>A ENST00000222792.6 + 13 1875 c.1345G>A c.(1345-1347)Gat>Aat p.D449N CHN2_ENST00000439711.2_Missense_Mutation_p.D267N|CHN2_ENST00000424025.2_Missense_Mutation_p.D268N|CHN2_ENST00000539389.1_Missense_Mutation_p.D305N|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000546235.1_Missense_Mutation_p.D434N|CHN2_ENST00000421775.2_Missense_Mutation_p.D255N|CHN2_ENST00000495789.2_Missense_Mutation_p.D462N|CHN2_ENST00000435288.2_Missense_Mutation_p.D173N|CHN2_ENST00000409041.4_Missense_Mutation_p.D313N|CHN2_ENST00000539406.1_Missense_Mutation_p.D524N NM_004067.2 NP_004058.1 P52757 CHIO_HUMAN chimerin 2 449 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2) 23 CACCCTGCATGATATGCGGTA 0.463000 13 49 0 0 0.001855 0 0 DRP2 1821 broad.mit.edu 37 X 100505953 100505953 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:100505953C>T ENST00000395209.3 + 16 2273 c.1746C>T c.(1744-1746)gtC>gtT p.V582V DRP2_ENST00000541709.1_Silent_p.V504V|DRP2_ENST00000538510.1_Silent_p.V582V|DRP2_ENST00000402866.1_Silent_p.V582V NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 582 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 TGGAGTGGGTCAACCTGGAGC 0.537000 23 98 0 0 0.003954 0 0 BHLHB9 80823 broad.mit.edu 37 X 102004986 102004986 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:102004986C>T ENST00000372735.1 + 4 1648 c.1063C>T c.(1063-1065)Cca>Tca p.P355S BHLHB9_ENST00000457056.1_Missense_Mutation_p.P355S|BHLHB9_ENST00000448867.1_Missense_Mutation_p.P355S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.P355S|BHLHB9_ENST00000361229.4_Missense_Mutation_p.P355S Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 355 cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TAATGTTCACCCATTTGCCCA 0.363000 5 73 0 0 0.001168 0 0 PTPRF 5792 broad.mit.edu 37 1 44069632 44069632 + Missense_Mutation SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:44069632G>T ENST00000359947.4 + 16 3149 c.2809G>T c.(2809-2811)Gac>Tac p.D937Y PTPRF_ENST00000438120.1_Missense_Mutation_p.D928Y|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.D928Y|PTPRF_ENST00000372414.3_Missense_Mutation_p.D937Y|PTPRF_ENST00000422171.2_Missense_Mutation_p.D285Y NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 937 Fibronectin type-III 7. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ACTGGCCTGGGACCCGCCAGT 0.602000 9 21 1.12685e-05 1.17922e-05 0.004482 1 0 CILP 8483 broad.mit.edu 37 15 65499240 65499240 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:65499240C>T ENST00000261883.4 - 4 470 c.304G>A c.(304-306)Gcg>Acg p.A102T NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 102 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 GTGCTGCCCGCAGGTGTCCAG 0.627000 6 24 0 0 0.001168 0 0 GTPBP4 23560 broad.mit.edu 37 10 1063059 1063059 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:1063059G>C ENST00000360803.4 + 17 1879 c.1797G>C c.(1795-1797)aaG>aaC p.K599N GTPBP4_ENST00000545048.1_Missense_Mutation_p.K552N|GTPBP4_ENST00000538293.1_Missense_Mutation_p.K483N NM_012341.2 NP_036473.2 Q9BZE4 NOG1_HUMAN GTP binding protein 4 599 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) CTCAGAAGAAGATGAATCGGT 0.403000 15 63 0 0 0.003163 0 0 MRE11A 4361 broad.mit.edu 37 11 94179020 94179020 + Nonsense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:94179020G>C ENST00000323929.3 - 16 2045 c.1823C>G c.(1822-1824)tCa>tGa p.S608* MRE11A_ENST00000407439.3_Nonsense_Mutation_p.S611*|MRE11A_ENST00000323977.3_Intron|MRE11A_ENST00000393241.4_Nonsense_Mutation_p.S607* NM_005591.3 NP_005582.1 P49959 MRE11_HUMAN MRE11 meiotic recombination 11 homolog A (S. cerevisiae) 608 DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase Mre11 complex|nucleoplasm 3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824) AGCAGTCTTTGAGTTCCTGCT 0.378000 Homologous recombination Ataxia-Telangiectasia-Like Disorder 32 89 0 0 0.003755 0 0 SPIN4 139886 broad.mit.edu 37 X 62570191 62570191 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:62570191C>T ENST00000374884.2 - 1 1032 c.454G>A c.(454-456)Gac>Aac p.D152N SPIN4_ENST00000335144.3_Missense_Mutation_p.D170N|SPIN4-AS1_ENST00000451979.1_RNA Q56A73 SPIN4_HUMAN spindlin family, member 4 170 gamete generation endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 11 TCTTTGTAGTCATCAAGCAGC 0.478000 25 91 0 0 0.003954 0 0 WTAP 9589 broad.mit.edu 37 6 160164726 160164726 + Nonsense_Mutation SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:160164726G>T ENST00000358372.4 + 5 1932 c.175G>T c.(175-177)Gaa>Taa p.E59* WTAP_ENST00000337387.4_Nonsense_Mutation_p.E59*|SOD2_ENST00000546087.1_Intron NM_001270531.1|NM_004906.4 NP_001257460.1|NP_004897.2 Q15007 FL2D_HUMAN Wilms tumor 1 associated protein 59 cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 18 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) AAGAGAGTCTGAAGAAAAACT 0.363000 9 33 2.17888e-05 2.27622e-05 0.006214 1 0 KPNA6 23633 broad.mit.edu 37 1 32632895 32632895 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:32632895C>G ENST00000373625.3 + 12 1335 c.1242C>G c.(1240-1242)atC>atG p.I414M KPNA6_ENST00000545542.1_Missense_Mutation_p.I419M|KPNA6_ENST00000537234.1_Missense_Mutation_p.I411M NM_012316.4 NP_036448.1 O60684 IMA7_HUMAN karyopherin alpha 6 (importin alpha 7) 414 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding large_intestine(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CTGAGCAGATCAGGTATTACA 0.473000 22 79 0 0 0.002780 0 0 CCDC170 80129 broad.mit.edu 37 6 151939129 151939129 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:151939129G>A ENST00000367290.5 + 11 2105 c.2016G>A c.(2014-2016)gtG>gtA p.V672V CCDC170_ENST00000239374.7_Silent_p.V665V Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 665 GCTTGAACGTGACCAGCCTTG 0.443000 5 71 0 0 0.000602 0 0 NIPBL 25836 broad.mit.edu 37 5 36976261 36976261 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:36976261C>G ENST00000282516.8 + 9 1751 c.1252C>G c.(1252-1254)Caa>Gaa p.Q418E NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.Q418E NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 418 Gln-rich. brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) AAATGCTGCTCAATGTTTGTC 0.413000 21 58 0 0 0.012319 0 0 REV3L 5980 broad.mit.edu 37 6 111688626 111688626 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:111688626G>A ENST00000435970.1 - 16 6947 c.6131C>T c.(6130-6132)tCt>tTt p.S2044F REV3L_ENST00000368805.1_Missense_Mutation_p.S2122F|REV3L_ENST00000358835.3_Missense_Mutation_p.S2122F|REV3L_ENST00000368802.3_Missense_Mutation_p.S2122F O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 2122 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AATTACTGGAGAATCAGGGGA 0.438000 DNA polymerases (catalytic subunits) 19 173 0 0 0.012319 0 0 COL4A2 1284 broad.mit.edu 37 13 111077163 111077163 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:111077163G>A ENST00000360467.5 + 5 569 c.263G>A c.(262-264)gGa>gAa p.G88E NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 88 angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGACGTAAAGGAGACAAGGGT 0.627000 13 41 0 0 0.001855 0 0 PSD 5662 broad.mit.edu 37 10 104173810 104173810 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:104173810G>A ENST00000020673.5 - 5 1795 c.1269C>T c.(1267-1269)ctC>ctT p.L423L PSD_ENST00000406432.1_Silent_p.L423L NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 423 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) CCAGCGAGGCGAGGCTGGTAT 0.652000 4 46 0 0 0.009096 0 0 SNAI2 6591 broad.mit.edu 37 8 49832516 49832516 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:49832516C>G ENST00000396822.1 - 3 921 c.564G>C c.(562-564)aaG>aaC p.K188N SNAI2_ENST00000020945.1_Missense_Mutation_p.K188N O43623 SNAI2_HUMAN snail family zinc finger 2 188 canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1) 18 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) TGCCGCAGATCTTGCAAACAC 0.458000 9 72 0 0 0.008291 0 0 PEAK1 79834 broad.mit.edu 37 15 77471990 77471990 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:77471990C>T ENST00000560626.2 - 4 2754 c.2279G>A c.(2278-2280)aGa>aAa p.R760K PEAK1_ENST00000312493.4_Missense_Mutation_p.R760K|PEAK1_ENST00000558305.1_Missense_Mutation_p.R760K Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 760 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding TGCTTTCTCTCTGGTGCTGCT 0.537000 32 72 0 0 0.012213 0 0 NR1D2 9975 broad.mit.edu 37 3 24003916 24003916 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:24003916C>T ENST00000312521.4 + 5 1285 c.966C>T c.(964-966)ttC>ttT p.F322F NR1D2_ENST00000492552.1_3'UTR NM_001145425.1|NM_005126.4 NP_001138897.1|NP_005117.3 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 322 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 22 ATGGACAGTTCAAAGGGAGGA 0.398000 9 28 0 0 0.004482 0 0 KIAA1841 84542 broad.mit.edu 37 2 61300626 61300626 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:61300626C>G ENST00000402291.1 + 5 612 c.371C>G c.(370-372)tCt>tGt p.S124C KIAA1841_ENST00000295031.5_Missense_Mutation_p.S124C|KIAA1841_ENST00000356719.2_Missense_Mutation_p.S124C|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Missense_Mutation_p.S124C NM_001129993.1 NP_001123465.1 Q6NSI8 K1841_HUMAN KIAA1841 124 breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) AGGAATTGTTCTTCAGAAAGT 0.353000 10 35 0 0 0.013537 0 0 SCAP 22937 broad.mit.edu 37 3 47484421 47484421 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:47484421G>A ENST00000265565.5 - 2 475 c.63C>T c.(61-63)ctC>ctT p.L21L SCAP_ENST00000545718.1_5'UTR|SCAP_ENST00000441517.2_5'UTR NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 21 cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) AGGATGCACAGAGGAGCCCAT 0.537000 6 29 0 0 0.001984 0 0 PTPN21 11099 broad.mit.edu 37 14 88935898 88935898 + Silent SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:88935898G>T ENST00000556564.1 - 17 3464 c.3180C>A c.(3178-3180)ctC>ctA p.L1060L PTPN21_ENST00000328736.3_Silent_p.L1060L NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 1060 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 CTGTGTATTGGAGGTGCCAGA 0.537000 5 53 2.7689e-08 2.94832e-08 0.001984 1 0 HIST2H2BA 337875 broad.mit.edu 37 1 120906057 120906057 + RNA SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:120906057G>A ENST00000430394.1 + 0 30 NR_027337.1 CGGATCCAGCGAAATCCGCTC 0.517000 25 47 0 0 0.006320 0 0 TRIM4 89122 broad.mit.edu 37 7 99489924 99489924 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:99489924C>T ENST00000355947.2 - 7 1494 c.1365G>A c.(1363-1365)ggG>ggA p.G455G TRIM4_ENST00000349062.2_Silent_p.G429G NM_033017.3 NP_148977.2 Q9C037 TRIM4_HUMAN tripartite motif containing 4 455 B30.2/SPRY. protein trimerization cytoplasm|plasma membrane zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 17 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) AGGAGACATTCCCAGTCCCAC 0.557000 23 102 0 0 0.002780 0 0 FZD6 8323 broad.mit.edu 37 8 104337587 104337587 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:104337587G>C ENST00000358755.4 + 4 1570 c.1253G>C c.(1252-1254)gGa>gCa p.G418A FZD6_ENST00000540287.1_Missense_Mutation_p.G113A|FZD6_ENST00000523739.1_Missense_Mutation_p.G386A|FZD6_ENST00000522566.1_Missense_Mutation_p.G418A NM_001164616.1|NM_003506.3 NP_001158088.1|NP_003497.2 O60353 FZD6_HUMAN frizzled family receptor 6 418 angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) ATTCGAATTGGAGTCTTCAGC 0.403000 26 157 0 0 0.004656 0 0 ATP8B1 5205 broad.mit.edu 37 18 55359051 55359051 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr18:55359051G>C ENST00000536015.1 - 12 1327 c.1208C>G c.(1207-1209)tCt>tGt p.S403C RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.S403C NM_005603.4 NP_005594.1 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 403 S -> Y (in PFIC1). ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) GACATAGAGAGAGATGGGTAC 0.443000 8 37 0 0 0.004482 0 0 FAT1 2195 broad.mit.edu 37 4 187628329 187628329 + Nonsense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:187628329G>A ENST00000441802.2 - 2 2862 c.2653C>T c.(2653-2655)Cga>Tga p.R885* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 885 Cadherin 7. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TGCAGCTCTCGATCCAGAGGG 0.512000 HNSCC(5;0.00058) 13 64 0 0 0.013537 0 0 SLC3A2 6520 broad.mit.edu 37 11 62649516 62649516 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:62649516C>T ENST00000377892.1 + 6 1196 c.972C>T c.(970-972)ctC>ctT p.L324L SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000377889.2_Silent_p.L231L|SLC3A2_ENST00000377890.2_Silent_p.L293L|SLC3A2_ENST00000377891.2_Silent_p.L294L|SLC3A2_ENST00000338663.7_Silent_p.L192L|SLC3A2_ENST00000535296.1_Silent_p.L262L|SLC3A2_ENST00000538682.1_3'UTR P08195 4F2_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 2 293 blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2) 22 TTGACAGTCTCTTGCAATCGG 0.473000 12 51 0 0 0.004007 0 0 FOXD4 2298 broad.mit.edu 37 9 117889 117889 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:117889G>A ENST00000382500.2 - 1 528 c.231C>T c.(229-231)agC>agT p.S77S NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 77 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CTGAGGGGTCGCTCGGGCCGC 0.706000 26 105 0 0 0.014410 0 0 YBX2 51087 broad.mit.edu 37 17 7192869 7192869 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:7192869G>A ENST00000007699.5 - 7 1087 c.1024C>T c.(1024-1026)Cgg>Tgg p.R342W NM_015982.3 NP_057066.2 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 342 Pro-rich.|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 GCGGGCTGCCGGGGGCCAGGG 0.667000 6 11 0 0 0.001168 0 0 XKR6 286046 broad.mit.edu 37 8 10755509 10755509 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:10755509C>G ENST00000416569.2 - 3 1905 c.1879G>C c.(1879-1881)Gac>Cac p.D627H XKR6_ENST00000304437.2_Missense_Mutation_p.D348H NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 627 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) AGTGGTCCGTCTCGATATCGA 0.463000 20 34 0 0 0.008871 0 0 WNT4 54361 broad.mit.edu 37 1 22456196 22456196 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:22456196C>G ENST00000290167.6 - 2 269 c.226G>C c.(226-228)Gag>Cag p.E76Q WNT4_ENST00000542383.1_Missense_Mutation_p.E21Q NM_030761.4 NP_110388.2 P56705 WNT4_HUMAN wingless-type MMTV integration site family, member 4 76 adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 8 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) TGGCACTCCTCAATGGCCAGC 0.627000 14 40 0 0 0.001855 0 0 TAS2R46 259292 broad.mit.edu 37 12 11214128 11214128 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:11214128C>G ENST00000533467.1 - 1 765 c.766G>C c.(766-768)Gaa>Caa p.E256Q PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176887.2 NP_795368.2 P59540 T2R46_HUMAN taste receptor, type 2, member 46 256 sensory perception of taste cilium membrane|integral to membrane G-protein coupled receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) GGTTTGTTTTCCAGACTCTCA 0.423000 18 126 0 0 0.008871 0 0 PRC1 9055 broad.mit.edu 37 15 91510405 91510405 + Nonstop_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:91510405C>G ENST00000361919.3 - 14 1856 c.1700G>C c.(1699-1701)tGa>tCa p.*567S PRC1-AS1_ENST00000556200.1_RNA|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Nonstop_Mutation_p.*526S|PRC1_ENST00000361188.5_Missense_Mutation_p.D593H|PRC1_ENST00000394249.3_Missense_Mutation_p.D607H NM_199413.2 NP_955445.1 O43663 PRC1_HUMAN protein regulator of cytokinesis 1 0 Unstructured, Arg/Lys rich. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) GAAGTAGCATCAGATTTGGAA 0.448000 22 55 0 0 0.010504 0 0 AGMAT 79814 broad.mit.edu 37 1 15904338 15904338 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:15904338C>T ENST00000375826.3 - 5 884 c.742G>A c.(742-744)Gaa>Aaa p.E248K DNAJC16_ENST00000483270.1_Intron NM_024758.4 NP_079034.3 Q9BSE5 SPEB_HUMAN agmatine ureohydrolase (agmatinase) 248 putrescine biosynthetic process|spermidine biosynthetic process mitochondrion agmatinase activity|metal ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1) 12 Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649) CAGCAGTCTTCAGCCAGGACT 0.537000 7 19 0 0 0.001984 0 0 LRRC31 79782 broad.mit.edu 37 3 169572619 169572619 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:169572619C>G ENST00000316428.5 - 6 1030 c.973G>C c.(973-975)Gat>Cat p.D325H LRRC31_ENST00000264676.5_Missense_Mutation_p.D269H|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Missense_Mutation_p.D325H NM_001277127.1|NM_024727.2 NP_001264056.1|NP_079003.2 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 325 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) ATCACGTCATCTGCTGTTAGT 0.408000 16 63 0 0 0.003163 0 0 FBN2 2201 broad.mit.edu 37 5 127637197 127637197 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:127637197C>G ENST00000508053.1 - 53 6897 c.5923G>C c.(5923-5925)Gat>Cat p.D1975H FBN2_ENST00000262464.4_Missense_Mutation_p.D1975H P35556 FBN2_HUMAN fibrillin 2 1975 EGF-like 33; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CTGCACTCATCTATGTCTGTA 0.353000 26 73 0 0 0.004656 0 0 TMOD2 29767 broad.mit.edu 37 15 52069169 52069169 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:52069169C>T ENST00000249700.4 + 5 668 c.447C>T c.(445-447)ttC>ttT p.F149F TMOD2_ENST00000435126.2_Silent_p.F149F|TMOD2_ENST00000539962.2_Silent_p.F105F NM_001142885.1|NM_014548.3 NP_001136357.1|NP_055363.1 Q9NZR1 TMOD2_HUMAN tropomodulin 2 (neuronal) 149 nervous system development cytoplasm|cytoskeleton actin binding|tropomyosin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 all cancers(107;0.00435) ATCCAAAGTTCGATGAAGAAA 0.413000 13 38 0 0 0.013537 0 0 HCN4 10021 broad.mit.edu 37 15 73616079 73616079 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:73616079G>A ENST00000261917.3 - 8 3348 c.2355C>T c.(2353-2355)gcC>gcT p.A785A NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 785 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) TGGTGGCAGCGGCAGCCTGCA 0.701000 8 26 0 0 0.006214 0 0 IRS4 8471 broad.mit.edu 37 X 107976981 107976981 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:107976981G>A ENST00000372129.2 - 1 2670 c.2594C>T c.(2593-2595)tCa>tTa p.S865L NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 865 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 TCCAGGCTTTGAGAATGATCC 0.468000 60 212 0 0 0.014410 0 0 RPN2 6185 broad.mit.edu 37 20 35827508 35827508 + Nonsense_Mutation SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr20:35827508C>A ENST00000237530.6 + 4 670 c.359C>A c.(358-360)tCa>tAa p.S120* RPN2_ENST00000373622.5_Nonsense_Mutation_p.S88* NM_002951.3 NP_002942.2 P04844 RPN2_HUMAN ribophorin II 120 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1) 24 Myeloproliferative disorder(115;0.00878) AGTGAGGACTCATCTGTTACC 0.483000 22 69 2.37509e-13 2.55134e-13 0.010504 1 0 FGL1 2267 broad.mit.edu 37 8 17731930 17731930 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:17731930G>A ENST00000398056.2 - 6 1160 c.345C>T c.(343-345)tcC>tcT p.S115S FGL1_ENST00000518650.1_Silent_p.S115S|FGL1_ENST00000427924.1_Silent_p.S115S|FGL1_ENST00000398054.1_Silent_p.S115S|FGL1_ENST00000381840.2_Silent_p.S115S|FGL1_ENST00000381841.2_Silent_p.S115S|FGL1_ENST00000522444.1_Silent_p.S115S Q08830 FGL1_HUMAN fibrinogen-like 1 115 Fibrinogen C-terminal. signal transduction fibrinogen complex receptor binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4) 13 Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215) CTCCTCCATCGGACATGTCAC 0.383000 29 44 0 0 0.008361 0 0 MST1L 11223 broad.mit.edu 37 1 17084717 17084717 + RNA SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:17084717G>C ENST00000455405.2 - 0 299 p.S498F(1) TCACCAGGAGGAGAAGCACTG 0.577000 3 32 0 0 0.009096 0 0 SCN3A 6328 broad.mit.edu 37 2 166020352 166020352 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:166020352G>A ENST00000360093.3 - 7 1145 c.654C>T c.(652-654)ttC>ttT p.F218F SCN3A_ENST00000409101.3_Silent_p.F218F|SCN3A_ENST00000283254.7_Intron NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 218 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TCAAGACTCTGAAAGTTCGAA 0.373000 8 19 0 0 0.004482 0 0 KDM6B 23135 broad.mit.edu 37 17 7753196 7753196 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:7753196G>A ENST00000254846.5 + 12 3887 c.3498G>A c.(3496-3498)gtG>gtA p.V1166V KDM6B_ENST00000448097.2_Silent_p.V1166V NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 1166 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.V1166V(1) central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CCCAGTCTGTGAAACCGAAGA 0.532000 40 120 0 0 0.006999 0 0 OSM 5008 broad.mit.edu 37 22 30660370 30660370 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr22:30660370C>T ENST00000215781.2 - 3 301 c.261G>A c.(259-261)ctG>ctA p.L87L OSM_ENST00000403389.1_Silent_p.L66L|OSM_ENST00000403463.1_3'UTR NM_020530.4 NP_065391.1 P13725 ONCM_HUMAN oncostatin M 87 cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth extracellular space|oncostatin-M receptor complex cytokine activity|growth factor activity|oncostatin-M receptor binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3) 11 Epithelial(10;0.206) CCAGCCCCCTCAGGGTCTCCT 0.657000 8 18 0 0 0.003080 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455394 187455394 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:187455394G>C ENST00000307161.5 - 2 703 c.502C>G c.(502-504)Ctc>Gtc p.L168V RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 168 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) TCGTACTGGAGAGTCCCTGCA 0.602000 13 60 0 0 0.002450 0 0 GYS1 2997 broad.mit.edu 37 19 49477904 49477904 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:49477904G>A ENST00000323798.3 - 11 1591 c.1395C>T c.(1393-1395)ctC>ctT p.L465L GYS1_ENST00000541188.1_Silent_p.L385L|GYS1_ENST00000263276.6_Silent_p.L401L|GYS1_ENST00000544287.1_Silent_p.L98L NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 465 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) TGCTATTGAAGAGGCCGATTC 0.617000 8 32 0 0 0.003080 0 0 SSPO 23145 broad.mit.edu 37 7 149482281 149482281 + RNA SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:149482281C>G ENST00000378016.2 + 0 2955 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGTACCTGCCCAACGCCACCA 0.612000 11 50 0 0 0.013537 0 0 FGD6 55785 broad.mit.edu 37 12 95478362 95478362 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:95478362C>G ENST00000343958.4 - 20 4391 c.4168G>C c.(4168-4170)Gag>Cag p.E1390Q NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 1390 PH 2. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 TCGGAATTCTCATCTTTAACT 0.343000 25 39 0 0 0.002780 0 0 FAM50A 9130 broad.mit.edu 37 X 153677638 153677638 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:153677638G>C ENST00000393600.3 + 8 828 c.718G>C c.(718-720)Gag>Cag p.E240Q NM_004699.3 NP_004690.1 Q14320 FA50A_HUMAN family with sequence similarity 50, member A 240 spermatogenesis nucleus breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1) 15 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGACTTCAGTGAGCTGAGGTG 0.592000 11 33 0 0 0.013537 0 0 NFATC2 4773 broad.mit.edu 37 20 50049030 50049030 + Nonsense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr20:50049030G>A ENST00000371564.3 - 9 2515 c.2296C>T c.(2296-2298)Cag>Tag p.Q766* NFATC2_ENST00000396009.3_Nonsense_Mutation_p.Q766*|NFATC2_ENST00000414705.1_Nonsense_Mutation_p.Q746* NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 766 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) GCCGGCTGCTGATAGCCCAGC 0.697000 5 18 0 0 0.000602 0 0 KMT2A 4297 broad.mit.edu 37 11 118361969 118361969 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:118361969G>A ENST00000534358.1 + 14 4778 c.4755G>A c.(4753-4755)atG>atA p.M1585I KMT2A_ENST00000354520.4_Missense_Mutation_p.M1547I|KMT2A_ENST00000389506.5_Missense_Mutation_p.M1585I NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A AGAGTAAGATGATGCAATGTG 0.398000 33 107 0 0 0.005524 0 0 RBM12B 389677 broad.mit.edu 37 8 94746486 94746486 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:94746486G>A ENST00000399300.2 - 3 2366 c.2153C>T c.(2152-2154)tCa>tTa p.S718L RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 718 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) CTCCTGGGGTGACTGCCTGAA 0.627000 7 162 0 0 0.001984 0 0 TNFSF14 8740 broad.mit.edu 37 19 6665352 6665352 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:6665352G>C ENST00000326176.9 - 5 581 c.200C>G c.(199-201)tCc>tGc p.S67C TNFSF14_ENST00000245912.3_Missense_Mutation_p.S67C|TNFSF14_ENST00000599359.1_Missense_Mutation_p.S103C NM_003807.3|NM_172014.2 NP_003798.2|NP_742011.2 O43557 TNF14_HUMAN tumor necrosis factor (ligand) superfamily, member 14 103 cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 GGTCAAGCTGGAGTTGGCCCC 0.602000 3 3 0 0 0.004672 0 0 LPHN3 23284 broad.mit.edu 37 4 62679581 62679581 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:62679581C>G ENST00000512091.1 + 8 1997 c.1250C>G c.(1249-1251)tCt>tGt p.S417C LPHN3_ENST00000511324.1_Missense_Mutation_p.S485C|LPHN3_ENST00000514591.1_Missense_Mutation_p.S417C|LPHN3_ENST00000514157.1_Missense_Mutation_p.S417C|LPHN3_ENST00000508946.1_Missense_Mutation_p.S417C|LPHN3_ENST00000514996.1_Missense_Mutation_p.S417C|LPHN3_ENST00000545650.1_Missense_Mutation_p.S417C|LPHN3_ENST00000506746.1_Missense_Mutation_p.S485C|LPHN3_ENST00000507625.1_Missense_Mutation_p.S485C|LPHN3_ENST00000504896.1_Missense_Mutation_p.S417C|LPHN3_ENST00000507164.1_Missense_Mutation_p.S485C|LPHN3_ENST00000509896.1_Missense_Mutation_p.S485C|LPHN3_ENST00000506700.1_Missense_Mutation_p.S417C|LPHN3_ENST00000508693.1_Missense_Mutation_p.S485C|LPHN3_ENST00000506720.1_Missense_Mutation_p.S485C Q9HAR2 LPHN3_HUMAN latrophilin 3 417 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 caccttgactctgagctagaa 0.383000 7 40 0 0 0.004482 0 0 CR2 1380 broad.mit.edu 37 1 207643212 207643212 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:207643212G>A ENST00000367057.3 + 6 1179 c.990G>A c.(988-990)caG>caA p.Q330Q CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367058.3_Silent_p.Q330Q|CR2_ENST00000458541.2_Silent_p.Q330Q|CR2_ENST00000367059.3_Silent_p.Q330Q NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 330 Sushi 5. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TTGATAGTCAGAAGACTGGGA 0.517000 10 25 0 0 0.006214 0 0 C11orf58 10944 broad.mit.edu 37 11 16760339 16760339 + Missense_Mutation SNP G G C rs146011841 TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:16760339G>C ENST00000228136.4 + 1 392 c.14G>C c.(13-15)aGa>aCa p.R5T C11orf58_ENST00000527893.1_Intron|C11orf58_ENST00000422258.2_5'UTR|C11orf58_ENST00000525684.1_Missense_Mutation_p.R5T O00193 SMAP_HUMAN chromosome 11 open reading frame 58 5 NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1) 7 AGTGCTGCCAGAGAGTCTCAC 0.582000 3 46 0 0 0.004672 0 0 EML1 2009 broad.mit.edu 37 14 100405558 100405558 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:100405558G>A ENST00000262233.6 + 21 2355 c.2216G>A c.(2215-2217)gGa>gAa p.G739E EML1_ENST00000334192.4_Missense_Mutation_p.G758E|EML1_ENST00000327921.9_Missense_Mutation_p.G727E NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 739 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) GGCTCGGACGGAACCGACATC 0.587000 4 40 0 0 0.009096 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33689480 33689480 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:33689480C>G ENST00000321505.4 + 20 5510 c.5330C>G c.(5329-5331)tCc>tGc p.S1777C KIAA1549L_ENST00000389726.3_Missense_Mutation_p.S1783C|RP4-541C22.5_ENST00000534431.1_RNA KIAA1549-like AGCTCTCCCTCCAGGCTTCCT 0.687000 7 12 0 0 0.001984 0 0 KCNC2 3747 broad.mit.edu 37 12 75444683 75444683 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:75444683G>A ENST00000549446.1 - 3 1782 c.1102C>T c.(1102-1104)Ctg>Ttg p.L368L KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000540018.1_Silent_p.L368L|KCNC2_ENST00000550433.1_Silent_p.L368L|KCNC2_ENST00000548513.1_Silent_p.L368L|KCNC2_ENST00000393288.2_Silent_p.L368L|KCNC2_ENST00000341669.3_Silent_p.L368L|KCNC2_ENST00000298972.1_Silent_p.L368L|KCNC2_ENST00000350228.2_Silent_p.L368L NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 368 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 AGCACCCTCAGACCTACAAAA 0.438000 19 25 0 0 0.012319 0 0 IFT81 28981 broad.mit.edu 37 12 110628776 110628776 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:110628776G>C ENST00000242591.5 + 13 1896 c.1390G>C c.(1390-1392)Gag>Cag p.E464Q IFT81_ENST00000552912.1_Missense_Mutation_p.E464Q NM_014055.3 NP_054774.2 Q8WYA0 IFT81_HUMAN intraflagellar transport 81 homolog (Chlamydomonas) 464 cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1) 10 CACCCAAGAAGAGCTAGAAAG 0.338000 20 48 0 0 0.014323 0 0 CLCA1 1179 broad.mit.edu 37 1 86939133 86939133 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:86939133G>C ENST00000234701.3 + 3 547 c.196G>C c.(196-198)Gaa>Caa p.E66Q CLCA1_ENST00000394711.1_Missense_Mutation_p.E66Q A8K7I4 CLCA1_HUMAN chloride channel accessory 1 66 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) GTATCTGCTTGAAGCTACAGG 0.358000 7 44 0 0 0.001984 0 0 UBE2D2 7322 broad.mit.edu 37 5 138979957 138979957 + Splice_Site SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:138979957G>C ENST00000398733.3 + 2 651 c.24_splice c.e2-1 p.E9_splice UBE2D2_ENST00000505548.1_5'UTR|UBE2D2_ENST00000511725.1_5'UTR|UBE2D2_ENST00000253815.2_5'UTR NM_003339.2 NP_003330.1 P62837 UB2D2_HUMAN ubiquitin-conjugating enzyme E2D 2 9 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process ATP binding|protein binding|ubiquitin-protein ligase activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TTTTCTGTAGGAATTGAATGA 0.348000 9 24 0 0 0.004482 0 0 ZNF652 22834 broad.mit.edu 37 17 47388699 47388699 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:47388699G>A ENST00000362063.2 - 5 1602 c.1284C>T c.(1282-1284)ttC>ttT p.F428F ZNF652_ENST00000430262.2_Silent_p.F428F NM_014897.2 NP_055712.1 Q9Y2D9 ZN652_HUMAN zinc finger protein 652 428 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17) BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05) TGTGTTCGTCGAAGTACTGCT 0.423000 24 79 0 0 0.003330 0 0 MYCBP2 23077 broad.mit.edu 37 13 77633702 77633702 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:77633702C>T ENST00000407578.2 - 77 13362 c.13096G>A c.(13096-13098)Gag>Aag p.E4366K MYCBP2_ENST00000357337.6_Missense_Mutation_p.E4328K|MYCBP2_ENST00000544440.2_Missense_Mutation_p.E4328K NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 4328 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GCAGATAACTCTGTTCCACTC 0.463000 8 67 0 0 0.004482 0 0 SLC10A4 201780 broad.mit.edu 37 4 48490651 48490651 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:48490651G>C ENST00000273861.4 + 3 1228 c.1009G>C c.(1009-1011)Ggt>Cgt p.G337R NM_152679.3 NP_689892.1 Q96EP9 NTCP4_HUMAN solute carrier family 10, member 4 337 integral to membrane bile acid:sodium symporter activity central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 6 TCTGGAAACAGGTAGTCAGAA 0.443000 36 95 0 0 0.004878 0 0 TTC14 151613 broad.mit.edu 37 3 180327993 180327993 + Missense_Mutation SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:180327993G>T ENST00000296015.4 + 12 2108 c.1976G>T c.(1975-1977)aGa>aTa p.R659I TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron NM_133462.3 NP_597719.1 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 659 RNA binding endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 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) GAGCACTATAGAAGGTGGGAA 0.403000 9 39 0.000274275 0.000284087 0.004482 1 0 TARS 6897 broad.mit.edu 37 5 33455163 33455163 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:33455163C>T ENST00000265112.3 + 5 878 c.567C>T c.(565-567)ctC>ctT p.L189L TARS_ENST00000414361.2_Silent_p.L68L|TARS_ENST00000541634.1_Silent_p.L85L|TARS_ENST00000455217.2_Silent_p.L222L|TARS_ENST00000502553.1_Silent_p.L189L NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase 189 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) ACATGTACCTCGAAGAAGGGT 0.388000 13 27 0 0 0.003163 0 0 GLB1L 79411 broad.mit.edu 37 2 220102389 220102389 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:220102389G>C ENST00000295759.7 - 16 1847 c.1534C>G c.(1534-1536)Ctg>Gtg p.L512V GLB1L_ENST00000356283.3_Missense_Mutation_p.L422V|GLB1L_ENST00000409640.1_Missense_Mutation_p.L422V|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000392089.2_Missense_Mutation_p.L512V Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like 512 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCAATTTTCAGAGGGAACATC 0.453000 19 46 0 0 0.010504 0 0 STK31 56164 broad.mit.edu 37 7 23768842 23768842 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:23768842G>C ENST00000354639.3 + 6 852 c.388G>C c.(388-390)Gat>Cat p.D130H STK31_ENST00000433467.2_Missense_Mutation_p.D153H|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.D153H|STK31_ENST00000428484.1_Missense_Mutation_p.D130H NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 153 Tudor. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CATTCCTTCTGATCAAGAAGT 0.328000 10 22 0 0 0.010729 0 0 STK16 8576 broad.mit.edu 37 2 220111834 220111834 + Splice_Site SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:220111834G>C ENST00000409638.3 + 4 478 c.e4-1 STK16_ENST00000409516.3_Intron|STK16_ENST00000409260.1_Splice_Site|STK16_ENST00000396738.2_Splice_Site|STK16_ENST00000409743.1_Splice_Site|STK16_ENST00000486813.1_Splice_Site NM_001008910.2 NP_001008910.1 O75716 STK16_HUMAN serine/threonine kinase 16 protein complex assembly membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(1) 1 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTGTGTTGCAGAGAGGTACGC 0.502000 9 21 0 0 0.008291 0 0 PCYT1A 5130 broad.mit.edu 37 3 195965715 195965715 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:195965715C>T ENST00000292823.2 - 10 1120 c.948G>A c.(946-948)ccG>ccA p.P316P PCYT1A_ENST00000431016.1_Silent_p.P316P|PCYT1A_ENST00000419333.1_Silent_p.P316P NM_005017.2 NP_005008.2 P49585 PCY1A_HUMAN phosphate cytidylyltransferase 1, choline, alpha 316 cytosol|soluble fraction choline-phosphate cytidylyltransferase activity cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122) GGCTCTGCTTCGGGCTGATGG 0.587000 3 12 0 0 0.004672 0 0 AHNAK 79026 broad.mit.edu 37 11 62296791 62296791 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:62296791C>G ENST00000378024.4 - 5 5372 c.5098G>C c.(5098-5100)Gat>Cat p.D1700H AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1700 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ACCTCCACATCTGGGGCATCA 0.493000 60 241 0 0 0.014410 0 0 NAT6 24142 broad.mit.edu 37 3 50334679 50334679 + Silent SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:50334679C>A ENST00000443842.1 - 2 1023 c.216G>T c.(214-216)ctG>ctT p.L72L HYAL3_ENST00000336307.1_Intron|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000359051.3_Intron|NAT6_ENST00000354862.4_Silent_p.L94L|NAT6_ENST00000443094.2_Silent_p.L72L|NAT6_ENST00000417393.1_Silent_p.L72L|HYAL3_ENST00000513170.1_Intron N-acetyltransferase 6 (GCN5-related) endometrium(3)|lung(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CACAAGCATCCAGGAGCTCGG 0.642000 9 40 0.000442599 0.000457654 0.006214 1 0 FAM65A 79567 broad.mit.edu 37 16 67573997 67573997 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:67573997C>T ENST00000540839.3 + 8 736 c.516C>T c.(514-516)ctC>ctT p.L172L CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000428437.2_Silent_p.L166L|FAM65A_ENST00000422602.2_Silent_p.L172L|FAM65A_ENST00000379312.3_Silent_p.L156L|FAM65A_ENST00000042381.4_Silent_p.L152L|FAM65A_ENST00000566522.1_3'UTR Q6ZS17 FA65A_HUMAN family with sequence similarity 65, member A 156 cytoplasm binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) AGCGGCGTCTCCGGGATGGTG 0.637000 30 72 0 0 0.007291 0 0 TEPP 374739 broad.mit.edu 37 16 58019836 58019836 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:58019836C>G ENST00000290871.5 + 7 894 c.857C>G c.(856-858)tCc>tGc p.S286C TEPP_ENST00000441824.2_Missense_Mutation_p.S259C|TEPP_ENST00000569996.1_3'UTR NM_199046.2 NP_950247.2 Q6URK8 TEPP_HUMAN testis, prostate and placenta expressed 259 extracellular region p.S286Y(1) central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 8 AGCTTCGGCTCCAGCTACAGG 0.652000 8 46 0 0 0.003080 0 0 TAF2 6873 broad.mit.edu 37 8 120809951 120809951 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:120809951C>T ENST00000378164.2 - 7 1226 c.928G>A c.(928-930)Gat>Aat p.D310N NM_003184.3 NP_003175.1 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 310 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) TAAGCCTCATCAATGAAGACA 0.353000 6 75 0 0 0.001168 0 0 CSRNP3 80034 broad.mit.edu 37 2 166533010 166533010 + Missense_Mutation SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:166533010G>T ENST00000314499.7 + 6 973 c.597G>T c.(595-597)aaG>aaT p.K199N CSRNP3_ENST00000342316.4_Missense_Mutation_p.K199N|CSRNP3_ENST00000409420.1_Missense_Mutation_p.K231N NM_001172173.1 NP_001165644.1 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 199 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2) 33 TGGAAGAAAAGCACGAACTCC 0.522000 30 78 1.2476e-16 1.34972e-16 0.006320 1 0 GOLGB1 2804 broad.mit.edu 37 3 121411229 121411229 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:121411229C>G ENST00000393667.3 - 14 7092 c.6982G>C c.(6982-6984)Gat>Cat p.D2328H GOLGB1_ENST00000340645.5_Missense_Mutation_p.D2323H NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 2323 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TTACTTAAATCAGTCAACTGG 0.373000 24 66 0 0 0.014323 0 0 CDC6 990 broad.mit.edu 37 17 38450695 38450695 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:38450695G>C ENST00000209728.4 + 7 1494 c.1023G>C c.(1021-1023)ttG>ttC p.L341F NM_001254.3 NP_001245.1 Q99741 CDC6_HUMAN cell division cycle 6 341 cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 21 CACAGCTGTTGAACTTCCCAC 0.398000 20 70 0 0 0.008871 0 0 CRISP3 10321 broad.mit.edu 37 6 49704110 49704110 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:49704110C>T ENST00000433368.2 - 3 321 c.252G>A c.(250-252)ctG>ctA p.L84L CRISP3_ENST00000371159.4_Silent_p.L92L|CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000393666.1_Silent_p.L61L|CRISP3_ENST00000263045.4_Silent_p.L74L NM_001190986.1 NP_001177915.1 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 61 innate immune response proteinaceous extracellular matrix|specific granule breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) TTACCATCTTCAGCATGTTTC 0.438000 43 96 0 0 0.011902 0 0 NOTCH1 4851 broad.mit.edu 37 9 139402742 139402742 + Nonsense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:139402742C>T ENST00000277541.6 - 20 3342 c.3267G>A c.(3265-3267)tgG>tgA p.W1089* NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1089 EGF-like 28. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AAAGGCCGGTCCAGCCGCTGG 0.652000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 31 64 0 0 0.009535 0 0 AIG1 51390 broad.mit.edu 37 6 143486275 143486275 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:143486275G>A ENST00000494282.2 + 3 379 c.354G>A c.(352-354)ccG>ccA p.P118P AIG1_ENST00000275235.4_Silent_p.P118P|AIG1_ENST00000344492.5_Silent_p.P66P|AIG1_ENST00000367598.5_Silent_p.P118P|AIG1_ENST00000357847.4_Silent_p.P118P Q9NVV5 AIG1_HUMAN androgen-induced 1 118 integral to membrane endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246) TGATATACCCGAAGCTGCTGG 0.358000 22 100 0 0 0.006320 0 0 MROH5 389690 broad.mit.edu 37 8 142477621 142477621 + RNA SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:142477621C>G ENST00000430863.1 - 0 2280 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 TCGCTCAACTCTGCCAGTGTG 0.667000 10 41 0 0 0.010729 0 0 SNX27 81609 broad.mit.edu 37 1 151630850 151630850 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:151630850C>T ENST00000368843.3 + 3 803 c.683C>T c.(682-684)tCa>tTa p.S228L SNX27_ENST00000368838.1_Missense_Mutation_p.S135L|SNX27_ENST00000458013.2_Missense_Mutation_p.S228L NM_030918.5 NP_112180.4 Q96L92 SNX27_HUMAN sorting nexin family member 27 228 PX. cell communication|protein transport|signal transduction cytosol|early endosome phosphatidylinositol binding|protein binding central_nervous_system(1)|large_intestine(2)|ovary(2) 5 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) TTTTCATTATCAGAACAACAA 0.433000 18 124 0 0 0.010504 0 0 TSPAN11 441631 broad.mit.edu 37 12 31116785 31116785 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:31116785G>A ENST00000261177.9 + 3 168 c.109G>A c.(109-111)Gtg>Atg p.V37M TSPAN11_ENST00000535215.1_5'UTR|TSPAN11_ENST00000546076.1_Missense_Mutation_p.V37M|TSPAN11_ENST00000544427.1_Missense_Mutation_p.V27M NM_001080509.2 NP_001073978.1 A1L157 TSN11_HUMAN tetraspanin 11 37 integral to membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2) 11 all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CGTCCTGGCTGTGGGCATCTG 0.662000 20 52 0 0 0.012319 0 0 CLPX 10845 broad.mit.edu 37 15 65458988 65458988 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:65458988G>C ENST00000300107.3 - 4 682 c.494C>G c.(493-495)cCa>cGa p.P165R NM_006660.3 NP_006651.2 O76031 CLPX_HUMAN caseinolytic mitochondrial matrix peptidase chaperone subunit 165 protein folding|proteolysis involved in cellular protein catabolic process mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 16 GGGAGGTGGTGGTTTCTGTTG 0.378000 52 137 0 0 0.014410 0 0 COL15A1 1306 broad.mit.edu 37 9 101765755 101765755 + Silent SNP G G C rs142437738 TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:101765755G>C ENST00000375001.3 + 8 1509 c.1086G>C c.(1084-1086)gcG>gcC p.A362A NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 362 4 X tandem repeats.|Nonhelical region 1 (NC1). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) CAACAGCAGCGGGGCTGGCCG 0.582000 16 76 0 0 0.004990 0 0 METTL18 92342 broad.mit.edu 37 1 169761757 169761757 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:169761757C>T ENST00000310392.4 - 2 1433 c.1080G>A c.(1078-1080)aaG>aaA p.K360K METTL18_ENST00000303469.2_Silent_p.K360K|C1orf112_ENST00000498289.1_Intron NM_033418.2 NP_219486.1 O95568 MET18_HUMAN methyltransferase like 18 360 K -> M (in dbSNP:rs13375701). cytoplasm protein methyltransferase activity kidney(1)|large_intestine(3)|lung(4) 8 TTATGAACCTCTTCAATCCTT 0.308000 3 8 0 0 0.009096 0 0 HECTD2 143279 broad.mit.edu 37 10 93242780 93242780 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:93242780G>C ENST00000446394.1 + 8 868 c.768G>C c.(766-768)caG>caC p.Q256H HECTD2_ENST00000298068.5_Missense_Mutation_p.Q256H|HECTD2_ENST00000536715.1_5'UTR Q5U5R9 HECD2_HUMAN HECT domain containing E3 ubiquitin protein ligase 2 256 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1) 27 TGCTACGACAGATAGCTACCT 0.308000 16 35 0 0 0.007413 0 0 IGHV4-34 28395 broad.mit.edu 37 14 106829597 106829597 + RNA SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:106829597C>T ENST00000390616.2 - 0 396 CTGTGCCTCTCGCACAGTAAT 0.587000 38 136 0 0 0.006999 0 0 TRIM32 22954 broad.mit.edu 37 9 119460354 119460354 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:119460354C>T ENST00000450136.1 + 2 494 c.333C>T c.(331-333)ttC>ttT p.F111F ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Silent_p.F111F|ASTN2_ENST00000361209.2_Intron NM_001099679.1|NM_012210.3 NP_001093149.1|NP_036342.2 Q13049 TRI32_HUMAN tripartite motif containing 32 111 fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV nucleus myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 26 CCCGGCAATTCTGCCGGAGCT 0.592000 18 74 0 0 0.007413 0 0 ZFP37 7539 broad.mit.edu 37 9 115805660 115805660 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:115805660G>C ENST00000374227.3 - 4 1265 c.1238C>G c.(1237-1239)tCt>tGt p.S413C ZFP37_ENST00000553380.1_Missense_Mutation_p.S428C|ZFP37_ENST00000555206.1_Missense_Mutation_p.S414C Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 413 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 ATACCTAAAAGACTTCCCACA 0.393000 28 86 0 0 0.005443 0 0 P2RX4 5025 broad.mit.edu 37 12 121670829 121670829 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:121670829C>T ENST00000337233.4 + 11 1382 c.1074C>T c.(1072-1074)ctC>ctT p.L358L P2RX4_ENST00000543171.1_Silent_p.L257L|P2RX4_ENST00000359949.7_Silent_p.L374L NM_001261397.1|NM_001261398.1|NM_002560.2 NP_001248326.1|NP_001248327.1|NP_002551.2 Q99571 P2RX4_HUMAN purinergic receptor P2X, ligand-gated ion channel, 4 358 endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis cell junction|perinuclear region of cytoplasm cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TCATAGTCCTCTACTGCATGA 0.507000 21 232 0 0 0.012319 0 0 HOMEZ 57594 broad.mit.edu 37 14 23745036 23745036 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:23745036C>T ENST00000357460.5 - 2 1565 c.1401G>A c.(1399-1401)gaG>gaA p.E467E HOMEZ_ENST00000561013.1_Silent_p.E469E|HOMEZ_ENST00000431326.2_Silent_p.E469E NM_020834.2 NP_065885.2 Q8IX15 HOMEZ_HUMAN homeobox and leucine zipper encoding 467 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|lung(7) 12 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) CCCAGTACCTCTCCAAGGGTT 0.552000 6 31 0 0 0.001168 0 0 RRP8 23378 broad.mit.edu 37 11 6622653 6622653 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:6622653C>T ENST00000254605.6 - 3 760 c.643G>A c.(643-645)Gcc>Acc p.A215T RRP8_ENST00000534343.1_Intron NM_015324.3 NP_056139.1 O43159 RRP8_HUMAN ribosomal RNA processing 8, methyltransferase, homolog (yeast) 215 chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2) 13 TCTGTGGGGGCCTCAGCTGGG 0.592000 11 39 0 0 0.010729 0 0 CFL1 1072 broad.mit.edu 37 11 65623593 65623593 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:65623593C>T ENST00000525451.2 - 3 839 c.124G>A c.(124-126)Gag>Aag p.E42K CFL1_ENST00000531407.1_Missense_Mutation_p.E25K|CFL1_ENST00000531413.1_Missense_Mutation_p.E25K|CFL1_ENST00000524553.1_Missense_Mutation_p.E25K|CFL1_ENST00000527344.1_Missense_Mutation_p.E25K|CFL1_ENST00000308162.5_Missense_Mutation_p.E42K|CFL1_ENST00000534769.1_Missense_Mutation_p.E80K P23528 COF1_HUMAN cofilin 1 (non-muscle) 42 ADF-H. actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 READ - Rectum adenocarcinoma(159;0.169) TTCTTGTCCTCACTCAGGCAG 0.547000 17 56 0 0 0.008871 0 0 GPR101 83550 broad.mit.edu 37 X 136113291 136113291 + Silent SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:136113291G>C ENST00000298110.1 - 1 542 c.543C>G c.(541-543)ctC>ctG p.L181L NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 181 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) TCATGGAGCAGAGAGCATTGC 0.572000 11 22 0 0 0.008291 0 0 GBP3 2635 broad.mit.edu 37 1 89486310 89486310 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:89486310G>C ENST00000370481.4 - 2 315 c.95C>G c.(94-96)tCt>tGt p.S32C GBP3_ENST00000475853.2_5'UTR NM_018284.2 NP_060754.2 Q9H0R5 GBP3_HUMAN guanylate binding protein 3 32 integral to membrane GTP binding|GTPase activity breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) TGTAATGGCAGACAGGATTTT 0.517000 26 78 0 0 0.003954 0 0 DNAH11 8701 broad.mit.edu 37 7 21678666 21678666 + Nonsense_Mutation SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:21678666G>T ENST00000328843.6 + 28 4973 c.4942G>T c.(4942-4944)Gga>Tga p.G1648* DNAH11_ENST00000409508.3_Nonsense_Mutation_p.G1643* Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1648 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TCTCTCAAAAGGAGCTCAGCC 0.398000 Kartagener syndrome 9 47 3.09899e-07 3.27115e-07 0.004482 1 0 DHTKD1 55526 broad.mit.edu 37 10 12126746 12126746 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:12126746C>G ENST00000263035.4 + 3 580 c.518C>G c.(517-519)tCt>tGt p.S173C DHTKD1_ENST00000465617.1_Intron NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 173 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) ATGCTGGAATCTCAGGTAAAA 0.527000 12 54 0 0 0.010729 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906954 164906954 + Silent SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:164906954G>C ENST00000475390.1 - 2 2108 c.1665C>G c.(1663-1665)gtC>gtG p.V555V SLITRK3_ENST00000241274.3_Silent_p.V555V O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 555 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 GGTCTATCTGGACAATGGCAT 0.527000 HNSCC(40;0.11) 4 50 0 0 0.009096 0 0 ZNF177 7730 broad.mit.edu 37 19 9492159 9492159 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:9492159G>C ENST00000541595.2 + 12 1301 c.672G>C c.(670-672)aaG>aaC p.K224N ZNF177_ENST00000434737.2_Missense_Mutation_p.K384N|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000602738.1_Missense_Mutation_p.K224N|ZNF177_ENST00000589262.1_Missense_Mutation_p.K384N|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000343499.4_Missense_Mutation_p.K224N NM_001172650.2 NP_001166121.1 Q13360 ZN177_HUMAN zinc finger protein 177 224 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2) 13 CATCCCTTAAGAAACACACAC 0.463000 16 131 0 0 0.004990 0 0 DPPA2 151871 broad.mit.edu 37 3 109026903 109026903 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:109026903C>G ENST00000478945.1 - 6 880 c.634G>C c.(634-636)Gag>Cag p.E212Q NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 212 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AAAAAGGCCTCAACAGAAACA 0.458000 11 15 0 0 0.013537 0 0 OGFOD1 55239 broad.mit.edu 37 16 56492471 56492471 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:56492471G>C ENST00000566157.1 + 3 435 c.312G>C c.(310-312)ttG>ttC p.L104F OGFOD1_ENST00000568397.1_Missense_Mutation_p.L104F|OGFOD1_ENST00000565209.1_3'UTR NM_018233.3 NP_060703.3 Q8N543 OGFD1_HUMAN 2-oxoglutarate and iron-dependent oxygenase domain containing 1 104 iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 Vitamin C(DB00126) CTGATGATTTGAAGAAGAGAA 0.378000 7 31 0 0 0.003080 0 0 MAP9 79884 broad.mit.edu 37 4 156281397 156281397 + Missense_Mutation SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:156281397C>A ENST00000311277.4 - 7 1236 c.973G>T c.(973-975)Gat>Tat p.D325Y AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000594492.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.D301Y|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000597831.1_RNA NM_001039580.1 NP_001034669.1 Q49MG5 MAP9_HUMAN microtubule-associated protein 9 325 cell division|mitosis cytoplasm|microtubule|spindle p.D325Y(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) GTTCTGTCATCATCCATAATC 0.378000 13 42 9.31168e-06 9.76121e-06 0.001855 1 0 STAT5B 6777 broad.mit.edu 37 17 40362425 40362425 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:40362425C>T ENST00000293328.3 - 14 1939 c.1771G>A c.(1771-1773)Gat>Aat p.D591N NM_012448.3 NP_036580.2 P51692 STA5B_HUMAN signal transducer and activator of transcription 5B 591 SH2. 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) TCTCACCCATCATTCCAATGA 0.448000 19 87 0 0 0.014323 0 0 EHMT1 79813 broad.mit.edu 37 9 140622883 140622883 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:140622883C>G ENST00000460843.1 + 4 752 c.725C>G c.(724-726)tCt>tGt p.S242C EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.S242C|EHMT1_ENST00000334856.6_Missense_Mutation_p.S211C NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 242 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) AAAAACATTTCTGACTTTGGA 0.458000 11 85 0 0 0.008291 0 0 KANK4 163782 broad.mit.edu 37 1 62703988 62703988 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:62703988C>T ENST00000371153.4 - 10 3327 c.2949G>A c.(2947-2949)ctG>ctA p.L983L KANK4_ENST00000354381.3_Silent_p.L355L|KANK4_ENST00000371150.1_Silent_p.L339L|KANK4_ENST00000317477.4_Silent_p.L121L NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 983 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 CGTGGGCTCTCAGAAGCCCAG 0.557000 7 29 0 0 0.001984 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 4 67 0 0 0.001168 0 0 NSD1 64324 broad.mit.edu 37 5 176709547 176709547 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:176709547G>C ENST00000439151.2 + 19 6019 c.5974G>C c.(5974-5976)Gat>Cat p.D1992H NSD1_ENST00000361032.4_Missense_Mutation_p.D1889H|NSD1_ENST00000354179.4_Missense_Mutation_p.D1723H|NSD1_ENST00000347982.4_Missense_Mutation_p.D1723H NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1992 SET. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TCAAGAACATGATATCACTAA 0.378000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 29 81 0 0 0.006320 0 0 SERPINB6 5269 broad.mit.edu 37 6 2954925 2954925 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:2954925G>C ENST00000380520.1 - 3 2325 c.331C>G c.(331-333)Caa>Gaa p.Q111E SERPINB6_ENST00000380539.1_Missense_Mutation_p.Q111E|SERPINB6_ENST00000380529.1_Missense_Mutation_p.Q111E|SERPINB6_ENST00000335686.5_Missense_Mutation_p.Q111E|SERPINB6_ENST00000380524.1_Missense_Mutation_p.Q111E|SERPINB6_ENST00000380546.3_Missense_Mutation_p.Q111E P35237 SPB6_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 6 111 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2) 17 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) TAGAATTTTTGGCAGGAATCT 0.443000 12 42 0 0 0.010729 0 0 LRRN1 57633 broad.mit.edu 37 3 3887186 3887186 + Silent SNP T T C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:3887186T>C ENST00000319331.3 + 2 1622 c.861T>C c.(859-861)ctT>ctC p.L287L SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 287 integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) AAAATATGCTTCGGTTAAAAG 0.438000 16 69 0 0 0.003163 0 0 MUC6 4588 broad.mit.edu 37 11 1016425 1016425 + Nonsense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:1016425G>A ENST00000421673.2 - 31 6426 c.6376C>T c.(6376-6378)Cag>Tag p.Q2126* NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 2126 Ser-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GAGGACAGCTGATTAGTTGTG 0.527000 5 26 0 0 0.001168 0 0 TAP2 6891 broad.mit.edu 37 6 32782246 32782246 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:32782246C>T ENST00000452392.2 - 14 2488 c.2315G>A c.(2314-2316)aGa>aAa p.R772K HLA-DOB_ENST00000438763.2_Missense_Mutation_p.R165K Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 0 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding GACCCCAGCTCTCTCCTCCTG 0.522000 29 98 0 0 0.008361 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69045102 69045102 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:69045102G>A ENST00000295381.3 + 8 1395 c.976G>A c.(976-978)Gaa>Aaa p.E326K ARHGAP25_ENST00000479844.1_Missense_Mutation_p.E20K|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.E320K|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E327K|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E320K|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E319K|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E287K NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 326 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 GTCGAAGGTCGAAGACCCTGC 0.468000 15 36 0 0 0.004007 0 0 PHACTR4 65979 broad.mit.edu 37 1 28793131 28793131 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:28793131C>T ENST00000373839.3 + 6 936 c.675C>T c.(673-675)gtC>gtT p.V225V PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Silent_p.V235V NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 225 actin binding|protein phosphatase inhibitor activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) ATCTCTCTGTCACCCCTTCCC 0.597000 11 36 0 0 0.010729 0 0 SFRP5 6425 broad.mit.edu 37 10 99527328 99527328 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:99527328G>A ENST00000266066.3 - 3 1015 c.897C>T c.(895-897)ttC>ttT p.F299F NM_003015.3 NP_003006.2 Q5T4F7 SFRP5_HUMAN secreted frizzled-related protein 5 299 NTR. apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception cytoplasm|extracellular space|plasma membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding large_intestine(1)|lung(4) 5 Colorectal(252;0.234) Epithelial(162;4.98e-10)|all cancers(201;3.58e-08) AGGGGTAGGAGAACATGAATT 0.567000 8 29 0 0 0.006214 0 0 FAM114A2 10827 broad.mit.edu 37 5 153390822 153390822 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:153390822G>A ENST00000351797.4 - 9 1048 c.972C>T c.(970-972)tcC>tcT p.S324S FAM114A2_ENST00000520667.1_Silent_p.S324S|FAM114A2_ENST00000522858.1_Silent_p.S324S|FAM114A2_ENST00000520313.1_Silent_p.S254S NM_018691.2 NP_061161.2 Q9NRY5 F1142_HUMAN family with sequence similarity 114, member A2 324 purine nucleotide binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1) 18 TCTCTGGTTTGGAGGAAACGT 0.368000 11 53 0 0 0.010729 0 0 IL17A 3605 broad.mit.edu 37 6 52053869 52053869 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:52053869G>C ENST00000340057.1 + 3 292 c.247G>C c.(247-249)Gag>Cag p.E83Q NM_002190.2 NP_002181.1 Q16552 IL17_HUMAN interleukin 17A 83 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) TGAGGACCCTGAGAGATATCC 0.502000 8 28 0 0 0.003080 0 0 DNAJA1 3301 broad.mit.edu 37 9 33038791 33038791 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:33038791G>A ENST00000330899.4 + 9 1267 c.1084G>A c.(1084-1086)Gaa>Aaa p.E362K DNAJA1_ENST00000544625.1_Missense_Mutation_p.E205K NM_001539.2 NP_001530.1 P31689 DNJA1_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 1 362 protein folding|response to heat|response to unfolded protein membrane ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding large_intestine(2)|ovary(1)|skin(3) 6 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.102) GGACCAAGTAGAACTGGTGGA 0.468000 9 46 0 0 0.004482 0 0 ZCCHC14 23174 broad.mit.edu 37 16 87451158 87451158 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:87451158G>C ENST00000268616.4 - 8 1097 c.880C>G c.(880-882)Cag>Gag p.Q294E NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 294 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) TCCTGGGTCTGAGGGGTCTGC 0.572000 46 132 0 0 0.014410 0 0 CCDC174 51244 broad.mit.edu 37 3 14706577 14706577 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:14706577G>A ENST00000383794.3 + 6 601 c.528G>A c.(526-528)atG>atA p.M176I CCDC174_ENST00000303688.7_Missense_Mutation_p.M176I NM_016474.4 NP_057558.3 coiled-coil domain containing 174 GGCGCTGTATGAGAAAGGATT 0.473000 11 125 0 0 0.013537 0 0 LAMTOR4 389541 broad.mit.edu 37 7 99751027 99751027 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:99751027C>T ENST00000441173.1 + 3 124 c.89C>T c.(88-90)tCt>tTt p.S30F LAMTOR4_ENST00000468582.1_3'UTR|LAMTOR4_ENST00000341942.5_Missense_Mutation_p.S30F late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 ATGCAGTCATCTGGGGACCTG 0.607000 32 114 0 0 0.003271 0 0 SUCLA2 8803 broad.mit.edu 37 13 48563043 48563043 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:48563043G>A ENST00000378654.3 - 3 401 c.345C>T c.(343-345)ctC>ctT p.L115L SUCLA2_ENST00000544100.1_5'UTR|SUCLA2_ENST00000543413.1_Silent_p.L57L|SUCLA2_ENST00000534875.1_Silent_p.L57L|SUCLA2_ENST00000497202.1_5'UTR NM_003850.2 NP_003841.1 Q9P2R7 SUCB1_HUMAN succinate-CoA ligase, ADP-forming, beta subunit 115 ATP-grasp. succinyl-CoA pathway|tricarboxylic acid cycle mitochondrial matrix ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4) 15 all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;2.1e-06) Succinic acid(DB00139) CTCCTCCTTTGAGGCCACTTT 0.328000 37 118 0 0 0.009718 0 0 FKBP10 60681 broad.mit.edu 37 17 39975508 39975508 + Silent SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:39975508G>C ENST00000321562.4 + 5 878 c.774G>C c.(772-774)ctG>ctC p.L258L NM_021939.3 NP_068758.3 Q96AY3 FKB10_HUMAN FK506 binding protein 10, 65 kDa 258 PPIase FKBP-type 2. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) ACGTCCTCCTGATTGACGTGC 0.632000 27 73 0 0 0.004656 0 0 PTPN23 25930 broad.mit.edu 37 3 47448093 47448093 + Silent SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:47448093C>G ENST00000265562.4 + 8 827 c.750C>G c.(748-750)gcC>gcG p.A250A PTPN23_ENST00000431726.1_Silent_p.A124A NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 250 BRO1. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ACTTCGCAGCCGTGGCTCATG 0.627000 9 23 0 0 0.004482 0 0 PRPF40B 25766 broad.mit.edu 37 12 50027427 50027427 + Silent SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:50027427C>G ENST00000261897.1 + 8 1055 c.504C>G c.(502-504)gtC>gtG p.V168V PRPF40B_ENST00000548825.2_Silent_p.V196V|PRPF40B_ENST00000380281.1_Silent_p.V174V Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 174 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CAGTTCTAGTCAAACAAGAGG 0.537000 4 46 0 0 0.001168 0 0 TMEM131 23505 broad.mit.edu 37 2 98409038 98409038 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:98409038C>G ENST00000186436.5 - 31 4183 c.3955G>C c.(3955-3957)Gaa>Caa p.E1319Q NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1319 Pro-rich. integral to membrane p.E1206Q(1)|p.E1206*(1)|p.E1319Q(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 GACAGCCTTTCAGGCTGCGGC 0.677000 6 9 0 0 0.001168 0 0 RAB36 9609 broad.mit.edu 37 22 23495243 23495243 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr22:23495243G>A ENST00000263116.2 + 5 489 c.449G>A c.(448-450)cGa>cAa p.R150Q RAB36_ENST00000341989.4_Missense_Mutation_p.R128Q NM_004914.2 NP_004905.2 O95755 RAB36_HUMAN RAB36, member RAS oncogene family 150 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) GTTTTTGATCGAGACTACAAG 0.493000 23 97 0 0 0.005443 0 0 ABCC9 10060 broad.mit.edu 37 12 22015908 22015908 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:22015908C>T ENST00000261200.4 - 18 2317 c.2318G>A c.(2317-2319)gGa>gAa p.G773E ABCC9_ENST00000261201.4_Missense_Mutation_p.G773E|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.G737E NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 773 ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AAAAGGACTTCCAAAAGTAAT 0.343000 5 27 0 0 0.000602 0 0 ZNF43 7594 broad.mit.edu 37 19 21992317 21992317 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:21992317G>A ENST00000594012.1 - 7 1018 c.504C>T c.(502-504)ttC>ttT p.F168F ZNF43_ENST00000595461.1_Silent_p.F168F|ZNF43_ENST00000598381.1_Silent_p.F168F|ZNF43_ENST00000354959.4_Silent_p.F174F NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 174 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) CTTTGCATTTGAAAAGTTTTT 0.303000 11 13 0 0 0.008291 0 0 BIRC6 57448 broad.mit.edu 37 2 32605289 32605289 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:32605289C>T ENST00000421745.2 + 3 710 c.576C>T c.(574-576)ttC>ttT p.F192F NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 192 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) ATGATTTGTTCATCACACAGC 0.333000 3 10 0 0 0.004672 0 0 MAGEA8 4107 broad.mit.edu 37 X 149013285 149013285 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:149013285G>C ENST00000535454.1 + 4 788 c.239G>C c.(238-240)tGg>tCg p.W80S MAGEA8_ENST00000542674.1_Missense_Mutation_p.W80S|MAGEA8_ENST00000493910.1_3'UTR|MAGEA8_ENST00000286482.1_Missense_Mutation_p.W80S NM_001166400.1 NP_001159872.1 P43361 MAGA8_HUMAN melanoma antigen family A, 8 80 NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;6.56e-05) AGCACTCTGTGGAGCCAATCC 0.597000 14 52 0 0 0.001855 0 0 VAV1 7409 broad.mit.edu 37 19 6833552 6833552 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:6833552C>G ENST00000304076.2 + 17 1718 c.1624C>G c.(1624-1626)Cag>Gag p.Q542E VAV1_ENST00000539284.1_Missense_Mutation_p.Q445E|VAV1_ENST00000602142.1_Missense_Mutation_p.Q542E|VAV1_ENST00000599806.1_Missense_Mutation_p.Q487E|VAV1_ENST00000596764.1_Missense_Mutation_p.Q510E NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 542 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity p.Q542E(1) biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 TACCTTCTATCAGGGCTACCG 0.547000 20 95 0 0 0.002780 0 0 ZNF300 91975 broad.mit.edu 37 5 150275396 150275396 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:150275396C>G ENST00000446148.2 - 7 1880 c.1453G>C c.(1453-1455)Gaa>Caa p.E485Q ZNF300_ENST00000274599.5_Missense_Mutation_p.E469Q|ZNF300_ENST00000394226.2_Missense_Mutation_p.E469Q|ZNF300_ENST00000418587.2_Missense_Mutation_p.E433Q|ZNF300_ENST00000427179.1_3'UTR NM_001172831.1 NP_001166302.1 Q96RE9 ZN300_HUMAN zinc finger protein 300 469 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTTCCACATTCAGTACATTCA 0.413000 12 45 0 0 0.013537 0 0 CHST10 9486 broad.mit.edu 37 2 101010229 101010229 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:101010229G>C ENST00000264249.3 - 7 934 c.549C>G c.(547-549)ttC>ttG p.F183L CHST10_ENST00000409701.1_Missense_Mutation_p.F183L|CHST10_ENST00000542617.1_Missense_Mutation_p.F231L NM_004854.4 NP_004845.1 O43529 CHSTA_HUMAN carbohydrate sulfotransferase 10 183 carbohydrate biosynthetic process|cell adhesion Golgi membrane|integral to membrane|membrane fraction breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1) 16 TAAAAAACTTGAAGTATGTTT 0.423000 13 37 0 0 0.003163 0 0 OIP5 11339 broad.mit.edu 37 15 41602045 41602045 + Silent SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:41602045C>G ENST00000220514.3 - 5 656 c.597G>C c.(595-597)ctG>ctC p.L199L NM_007280.1 NP_009211.1 O43482 MS18B_HUMAN Opa interacting protein 5 199 cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis Cajal body|chromatin|chromosome, centromeric region protein binding endometrium(3)|lung(1)|urinary_tract(1) 5 all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175) OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163) TCTTCTCTTTCAGCTAGGAAG 0.393000 20 54 0 0 0.007413 0 0 HIST1H1A 3024 broad.mit.edu 37 6 26017460 26017460 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:26017460C>T ENST00000244573.3 - 1 580 c.501G>A c.(499-501)aaG>aaA p.K167K NM_005325.3 NP_005316.1 Q02539 H11_HUMAN histone cluster 1, H1a 167 nucleosome assembly|spermatogenesis nucleosome|nucleus DNA binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1) 13 TTTTTGGATTCTTGGAGGATT 0.473000 41 156 0 0 0.007835 0 0 FGR 2268 broad.mit.edu 37 1 27942093 27942093 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:27942093C>T ENST00000374005.3 - 9 1158 c.870G>A c.(868-870)gtG>gtA p.V290V FGR_ENST00000545953.1_Silent_p.V224V|FGR_ENST00000374004.1_Silent_p.V290V|FGR_ENST00000399173.1_Silent_p.V290V NM_005248.2 NP_005239.1 P09769 FGR_HUMAN feline Gardner-Rasheed sarcoma viral oncogene homolog 290 Protein kinase. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TCAGCGTCTTCACCGCCACCT 0.682000 8 23 0 0 0.003080 0 0 HNF4A 3172 broad.mit.edu 37 20 43047076 43047076 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr20:43047076C>T ENST00000316099.3 + 6 749 c.660C>T c.(658-660)ctC>ctT p.L220L HNF4A_ENST00000415691.1_Silent_p.L220L|HNF4A_ENST00000457232.1_Silent_p.L198L|HNF4A_ENST00000443598.2_Silent_p.L220L NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 220 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TGGCCCTGCTCAGAGCCCATG 0.602000 25 84 0 0 0.005443 0 0 NCOR1 9611 broad.mit.edu 37 17 16029434 16029434 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:16029434C>G ENST00000268712.3 - 15 1853 c.1596G>C c.(1594-1596)aaG>aaC p.K532N NCOR1_ENST00000395848.1_Missense_Mutation_p.K423N|NCOR1_ENST00000395851.1_Missense_Mutation_p.K532N NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 532 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) cttcatctttcttttcttctt 0.264000 3 7 0 0 0.004672 0 0 GSTA1 2938 broad.mit.edu 37 6 52659022 52659022 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:52659022C>T ENST00000334575.5 - 5 470 c.315G>A c.(313-315)atG>atA p.M105I GSTA1_ENST00000493331.1_5'UTR NM_145740.3 NP_665683.1 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 105 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 12 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) GAAGGAGGATCATTTCACCCA 0.378000 43 108 0 0 0.007835 0 0 GOLGB1 2804 broad.mit.edu 37 3 121410602 121410602 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:121410602C>G ENST00000393667.3 - 14 7719 c.7609G>C c.(7609-7611)Gaa>Caa p.E2537Q GOLGB1_ENST00000340645.5_Missense_Mutation_p.E2532Q NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 2532 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TGGATCAGTTCTGCATCTAGC 0.398000 51 116 0 0 0.014410 0 0 WEE2 494551 broad.mit.edu 37 7 141408625 141408625 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:141408625G>A ENST00000397541.2 + 1 473 c.67G>A c.(67-69)Gag>Aag p.E23K WEE2-AS1_ENST00000488785.1_RNA NM_001105558.1 NP_001099028.1 P0C1S8 WEE2_HUMAN WEE1 homolog 2 (S. pombe) 23 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) TGAGGAGACTGAGATTGAAGG 0.443000 24 73 0 0 0.014323 0 0 GPRIN1 114787 broad.mit.edu 37 5 176026823 176026823 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:176026823C>T ENST00000303991.4 - 2 190 c.13G>A c.(13-15)Gaa>Aaa p.E5K NM_052899.2 NP_443131.2 Q7Z2K8 GRIN1_HUMAN G protein regulated inducer of neurite outgrowth 1 5 growth cone|plasma membrane NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCGGGTCTTCAGCAGTGTCC 0.612000 3 16 0 0 0.004672 0 0 RAC1 5879 broad.mit.edu 37 7 6426892 6426892 + Missense_Mutation SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:6426892C>A ENST00000348035.4 + 2 298 c.85C>A c.(85-87)Cct>Act p.P29T RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.P29T NM_006908.4 NP_008839.2 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 29 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding p.P29S(1) cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) CAATGCATTTCCTGGAGAATA 0.353000 20 54 9.95505e-16 1.07317e-15 0.014323 1 0 CCDC107 203260 broad.mit.edu 37 9 35660981 35660981 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:35660981G>A ENST00000426546.2 + 5 715 c.649G>A c.(649-651)Gag>Aag p.E217K CCDC107_ENST00000327351.2_3'UTR|CCDC107_ENST00000378406.1_3'UTR|ARHGEF39_ENST00000343259.3_3'UTR|CCDC107_ENST00000378407.3_3'UTR|CCDC107_ENST00000378409.3_Missense_Mutation_p.E190K|ARHGEF39_ENST00000378387.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000421582.2_3'UTR NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2 NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2 Q8WV48 CC107_HUMAN coiled-coil domain containing 107 217 integral to membrane endometrium(1)|lung(3)|skin(1) 5 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AAAGGAGGACGAGGAGGAGAT 0.557000 19 91 0 0 0.007413 0 0 SLMAP 7871 broad.mit.edu 37 3 57857389 57857389 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:57857389G>A ENST00000295951.3 + 12 2379 c.1162G>A c.(1162-1164)Gac>Aac p.D388N SLMAP_ENST00000295952.3_Missense_Mutation_p.D388N|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000428312.1_Missense_Mutation_p.D405N|SLMAP_ENST00000449503.2_Intron|SLMAP_ENST00000383718.3_Intron Q14BN4 SLMAP_HUMAN sarcolemma associated protein 405 muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) GAGTGGCGGGGACTGCACTTT 0.358000 9 38 0 0 0.010729 0 0 TMCC2 9911 broad.mit.edu 37 1 205238423 205238423 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:205238423G>C ENST00000358024.3 + 3 1482 c.1093G>C c.(1093-1095)Gag>Cag p.E365Q TMCC2_ENST00000329800.7_Missense_Mutation_p.E125Q|TMCC2_ENST00000330675.7_Missense_Mutation_p.E140Q|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.E287Q NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 365 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) GAAGGAGATTGAGCAGAACGG 0.632000 9 9 0 0 0.004482 0 0 GOLGA6A 342096 broad.mit.edu 37 15 74365132 74365132 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:74365132C>G ENST00000290438.3 - 13 1492 c.1452G>C c.(1450-1452)caG>caC p.Q484H NM_001038640.2 NP_001033729.2 Q9NYA3 GOG6A_HUMAN golgin A6 family, member A 484 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1) 16 GCTGTTGGTTCTGGTGGCTGG 0.622000 5 85 0 0 0.001168 0 0 NSRP1 84081 broad.mit.edu 37 17 28506198 28506198 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:28506198G>C ENST00000247026.5 + 5 454 c.391G>C c.(391-393)Gaa>Caa p.E131Q NSRP1_ENST00000540900.3_3'UTR NM_001261467.1|NM_032141.3 NP_001248396.1|NP_115517.1 Q9H0G5 NSRP1_HUMAN nuclear speckle splicing regulatory protein 1 131 Necessary for alternative splicing activity. developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome nuclear speck|ribonucleoprotein complex mRNA binding|protein binding autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 14 GAGAGAACGAGAAATGGAAAA 0.353000 5 19 0 0 0.001168 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49327631 49327631 + Missense_Mutation SNP A A G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:49327631A>G ENST00000559471.1 - 3 691 c.428T>C c.(427-429)aTc>aCc p.I143T SECISBP2L_ENST00000261847.3_Missense_Mutation_p.I143T NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 143 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 TTCTGTGGTGATAGCATTTAC 0.483000 24 95 0 0 0.003330 0 0 ABCD1 215 broad.mit.edu 37 X 153006073 153006073 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:153006073G>A ENST00000218104.3 + 7 2079 c.1680G>A c.(1678-1680)ccG>ccA p.P560P U52111.14_ENST00000434284.1_RNA NM_000033.3 NP_000024.2 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 1 560 ABC transporter. P -> L (in X-ALD; CALD-type).|P -> R (in X-ALD; AMN and ALMD-types).|P -> S (in X-ALD). fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2) 18 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGATCTACCCGGACTCAGTGG 0.637000 15 54 0 0 0.003163 0 0 HTRA2 27429 broad.mit.edu 37 2 74757145 74757145 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:74757145G>A ENST00000258080.3 + 1 642 c.12G>A c.(10-12)ccG>ccA p.P4P HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Silent_p.P4P NM_013247.4 NP_037379.1 O43464 HTRA2_HUMAN HtrA serine peptidase 2 4 apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding p.P4P(2) endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 TGGCTGCGCCGAGGGCGGGGC 0.741000 8 33 0 0 0.008291 0 0 NEURL4 84461 broad.mit.edu 37 17 7228995 7228995 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:7228995G>C ENST00000399464.2 - 7 1346 c.1331C>G c.(1330-1332)tCt>tGt p.S444C NEURL4_ENST00000570460.1_Missense_Mutation_p.S422C|NEURL4_ENST00000315614.7_Missense_Mutation_p.S444C NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GTGTAGGGCAGAGTTGGACTT 0.567000 25 86 0 0 0.005443 0 0 SF1 7536 broad.mit.edu 37 11 64536578 64536578 + Nonsense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:64536578G>C ENST00000377390.3 - 8 1140 c.803C>G c.(802-804)tCa>tGa p.S268* SF1_ENST00000433274.2_Nonsense_Mutation_p.S242*|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000334944.5_Nonsense_Mutation_p.S268*|SF1_ENST00000422298.2_Nonsense_Mutation_p.S153*|SF1_ENST00000227503.9_Nonsense_Mutation_p.S268*|SF1_ENST00000377394.3_Nonsense_Mutation_p.S268*|SF1_ENST00000377387.1_Nonsense_Mutation_p.S393* NM_004630.3 NP_004621.2 Q15637 SF01_HUMAN splicing factor 1 268 nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding p.S268L(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 GCGGGTCTCTGAGCTCTGCCA 0.488000 16 82 0 0 0.003163 0 0 KIDINS220 57498 broad.mit.edu 37 2 8871880 8871880 + Nonsense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:8871880G>C ENST00000256707.3 - 30 4467 c.4286C>G c.(4285-4287)tCa>tGa p.S1429* KIDINS220_ENST00000418530.1_Nonsense_Mutation_p.S1330*|KIDINS220_ENST00000427284.1_Nonsense_Mutation_p.S1410*|KIDINS220_ENST00000473731.1_Nonsense_Mutation_p.S1410* NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 1429 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CTCTAGGTTTGAATGAATAGA 0.463000 29 99 0 0 0.010818 0 0 SBNO2 22904 broad.mit.edu 37 19 1109708 1109708 + Nonsense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:1109708G>A ENST00000361757.3 - 27 3334 c.3097C>T c.(3097-3099)Cag>Tag p.Q1033* SBNO2_ENST00000587024.1_Nonsense_Mutation_p.Q1023*|SBNO2_ENST00000438103.2_Nonsense_Mutation_p.Q976* NM_014963.2 NP_055778.2 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 (Drosophila) 1033 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGCCCGTCCTGCGGGTGCCCG 0.672000 10 34 0 0 0.001855 0 0 CCDC129 223075 broad.mit.edu 37 7 31614170 31614170 + Nonsense_Mutation SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:31614170G>T ENST00000319386.3 + 7 1405 c.412G>T c.(412-414)Gaa>Taa p.E138* CCDC129_ENST00000482748.1_3'UTR|CCDC129_ENST00000451887.2_Nonsense_Mutation_p.E164*|CCDC129_ENST00000407970.3_Nonsense_Mutation_p.E138*|CCDC129_ENST00000409210.1_Nonsense_Mutation_p.E46* Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 138 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 TGAATGGCTGGAATTTTGGGA 0.438000 29 102 4.02929e-09 4.31304e-09 0.010818 1 0 TREM1 54210 broad.mit.edu 37 6 41250194 41250194 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:41250194G>C ENST00000591620.1 - 2 371 c.345C>G c.(343-345)atC>atG p.I115M TREM1_ENST00000334475.6_Missense_Mutation_p.I115M|TREM1_ENST00000589614.1_Missense_Mutation_p.I115M|TREM1_ENST00000244709.4_Missense_Mutation_p.I115M NM_001242589.1 NP_001229518.1 Q9NP99 TREM1_HUMAN triggering receptor expressed on myeloid cells 1 115 Ig-like V-type. blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration extracellular region|integral to membrane|intracellular|plasma membrane receptor activity NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) Glutathione(DB00143) GAGGCTGGTAGATCACACACT 0.537000 6 27 0 0 0.001984 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50656779 50656779 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr22:50656779G>C ENST00000248846.5 - 23 5111 c.5007C>G c.(5005-5007)ttC>ttG p.F1669L TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1669 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TCTCGTGCTTGAACAGCTGCA 0.632000 12 36 0 0 0.002450 0 0 C14orf166B 145497 broad.mit.edu 37 14 77319694 77319694 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:77319694G>A ENST00000393774.3 + 9 1073 c.949G>A c.(949-951)Gaa>Aaa p.E317K NM_194287.2 NP_919263.2 Q0VAA2 CN16B_HUMAN chromosome 14 open reading frame 166B 317 breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) CATCGGCAATGAAGGGGCCTC 0.532000 7 26 0 0 0.001984 0 0 HIST1H2BK 85236 broad.mit.edu 37 6 27114494 27114494 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:27114494C>G ENST00000396891.4 - 1 125 c.84G>C c.(82-84)aaG>aaC p.K28N HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.K28N NM_080593.2 NP_542160.1 O60814 H2B1K_HUMAN histone cluster 1, H2bk 28 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 GCTTGCGCTTCTTGCCGTCCT 0.597000 20 142 0 0 0.012319 0 0 GJA3 2700 broad.mit.edu 37 13 20716822 20716822 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:20716822G>C ENST00000241125.3 - 2 782 c.606C>G c.(604-606)atC>atG p.I202M NM_021954.3 NP_068773.2 Q9Y6H8 CXA3_HUMAN gap junction protein, alpha 3, 46kDa 202 cell-cell signaling|visual perception connexon complex|integral to membrane NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784) AGATGATGAAGATGGTCTTCT 0.612000 13 36 0 0 0.002450 0 0 TOR1B 27348 broad.mit.edu 37 9 132566591 132566591 + Missense_Mutation SNP C C T rs78770065 TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:132566591C>T ENST00000259339.2 + 2 499 c.439C>T c.(439-441)Cat>Tat p.H147Y TOR1B_ENST00000486372.1_3'UTR NM_014506.1 NP_055321.1 O14657 TOR1B_HUMAN torsin family 1, member B (torsin B) 147 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen ATP binding|nucleoside-triphosphatase activity|unfolded protein binding endometrium(3)|kidney(1)|large_intestine(1)|lung(7) 12 Ovarian(14;0.0586) GCACTTCCCTCATGAGCAGAA 0.483000 26 82 0 0 0.006320 0 0 JMJD1C 221037 broad.mit.edu 37 10 64946111 64946111 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:64946111C>T ENST00000399262.2 - 19 6821 c.6603G>A c.(6601-6603)atG>atA p.M2201I JMJD1C_ENST00000402544.1_Missense_Mutation_p.M1964I|JMJD1C_ENST00000542921.1_Missense_Mutation_p.M2019I|JMJD1C_ENST00000399251.1_3'UTR NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 2201 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) GGCTAATGTTCATTTTCTTAT 0.338000 8 32 0 0 0.003080 0 0 EGFR 1956 broad.mit.edu 37 7 55241688 55241688 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:55241688C>G ENST00000275493.2 + 18 2313 c.2136C>G c.(2134-2136)ttC>ttG p.F712L EGFR_ENST00000454757.2_Missense_Mutation_p.F659L|EGFR_ENST00000455089.1_Missense_Mutation_p.F667L|EGFR_ENST00000442591.1_Intron NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 712 Protein kinase. 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.F712F(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) AAACTGAATTCAAAAAGATCA 0.562000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 16 49 0 0 0.003163 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40843231 40843231 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:40843231C>G ENST00000264638.4 + 14 2353 c.2136C>G c.(2134-2136)atC>atG p.I712M CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 712 Fibrinogen C-terminal. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) AGCCTGGGATCCAGCGCTGTG 0.617000 13 95 0 0 0.002450 0 0 COG4 25839 broad.mit.edu 37 16 70553601 70553601 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:70553601C>G ENST00000323786.5 - 2 226 c.205G>C c.(205-207)Gaa>Caa p.E69Q COG4_ENST00000393612.4_Missense_Mutation_p.E65Q|COG4_ENST00000564653.1_Missense_Mutation_p.E69Q NM_001195139.1|NM_015386.2 NP_001182068.1|NP_056201.2 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 65 Interacts with SCFD1. Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) TTTTGCTGTTCCAAAAGAGCA 0.433000 4 24 0 0 0.000602 0 0 NDUFA5 4698 broad.mit.edu 37 7 123185709 123185709 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:123185709C>T ENST00000471770.1 - 4 339 c.205G>A c.(205-207)Gaa>Aaa p.E69K NDUFA5_ENST00000467117.1_5'UTR|NDUFA5_ENST00000355749.2_Missense_Mutation_p.E69K Q16718 NDUA5_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 69 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity large_intestine(1)|urinary_tract(1) 2 NADH(DB00157) AGTTGGTCTTCTAATTTTTTA 0.313000 13 51 0 0 0.003163 0 0 SLC8A3 6547 broad.mit.edu 37 14 70518823 70518823 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:70518823C>G ENST00000381269.2 - 5 2668 c.1915G>C c.(1915-1917)Gac>Cac p.D639H SLC8A3_ENST00000528359.1_Splice_Site|SLC8A3_ENST00000216568.7_Missense_Mutation_p.D10H|SLC8A3_ENST00000533541.1_5'UTR|SLC8A3_ENST00000534137.1_Splice_Site|SLC8A3_ENST00000394330.2_5'UTR|SLC8A3_ENST00000356921.2_Missense_Mutation_p.D633H|SLC8A3_ENST00000357887.3_Splice_Site NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 639 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) AGCTTCCTGTCTGTCACATCT 0.458000 24 59 0 0 0.003954 0 0 COL6A2 1292 broad.mit.edu 37 21 47546045 47546045 + Silent SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr21:47546045C>G ENST00000300527.4 + 26 2420 c.2316C>G c.(2314-2316)ctC>ctG p.L772L COL6A2_ENST00000397763.1_Silent_p.L772L|COL6A2_ENST00000409416.1_Silent_p.L772L|COL6A2_ENST00000357838.4_Silent_p.L772L|COL6A2_ENST00000310645.5_Silent_p.L772L NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 772 Nonhelical region.|VWFA 2. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) GTGAAAACCTCTACTCCATCG 0.587000 48 143 0 0 0.014410 0 0 EIF4G1 1981 broad.mit.edu 37 3 184044351 184044351 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:184044351C>T ENST00000342981.4 + 21 3676 c.3262C>T c.(3262-3264)Cct>Tct p.P1088S EIF4G1_ENST00000414031.1_Missense_Mutation_p.P1047S|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P1094S|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P1094S|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P1087S|EIF4G1_ENST00000435046.2_Missense_Mutation_p.P891S|EIF4G1_ENST00000411531.1_Missense_Mutation_p.P1048S|EIF4G1_ENST00000350481.5_Missense_Mutation_p.P923S|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Missense_Mutation_p.P1087S|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P1094S|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P1001S|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P1000S|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P892S|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P924S NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 1087 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCTCTTTGCACCTGGAGGGCG 0.597000 18 47 0 0 0.008871 0 0 AHNAK 79026 broad.mit.edu 37 11 62298786 62298786 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:62298786C>G ENST00000378024.4 - 5 3377 c.3103G>C c.(3103-3105)Gat>Cat p.D1035H AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1035 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GCATTAGTATCTACTTTTGGT 0.463000 14 84 0 0 0.001855 0 0 NBEAL1 65065 broad.mit.edu 37 2 204000956 204000956 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:204000956C>G ENST00000449802.1 + 27 4616 c.4283C>G c.(4282-4284)tCt>tGt p.S1428C NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 1428 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 GATGACTTCTCTTTACTTGAA 0.363000 11 40 0 0 0.013537 0 0 BDP1 55814 broad.mit.edu 37 5 70841044 70841044 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:70841044G>A ENST00000358731.4 + 32 7005 c.6742G>A c.(6742-6744)Gag>Aag p.E2248K BDP1_ENST00000380675.2_Missense_Mutation_p.E384K NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 2248 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TCCTGTGCCAGAGGTAAAAGA 0.373000 12 48 0 0 0.001855 0 0 SNHG1 23642 broad.mit.edu 37 11 62620401 62620401 + RNA SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:62620401C>G ENST00000384756.1 - 0 106 NR_000008.2 ACAGTTCCTTCTGGAACAAAT 0.423000 18 64 0 0 0.007413 0 0 ADAM15 8751 broad.mit.edu 37 1 155030888 155030888 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:155030888C>T ENST00000356955.2 + 15 1989 c.1888C>T c.(1888-1890)Ctg>Ttg p.L630L ADAM15_ENST00000355956.2_Silent_p.L630L|ADAM15_ENST00000368413.1_Silent_p.L336L|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Silent_p.L640L|ADAM15_ENST00000271836.6_Silent_p.L630L|ADAM15_ENST00000360674.4_Silent_p.L630L|ADAM15_ENST00000359280.4_Silent_p.L630L|ADAM15_ENST00000447332.3_Silent_p.L614L|ADAM15_ENST00000449910.2_Silent_p.L630L|ADAM15_ENST00000368410.2_Silent_p.L336L|ADAM15_ENST00000368412.3_Silent_p.L630L NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 630 Cys-rich. angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CCTCCTGACTCTGCCTGGCAC 0.597000 8 24 0 0 0.006214 0 0 CA14 23632 broad.mit.edu 37 1 150233959 150233959 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:150233959G>A ENST00000369111.4 + 3 1148 c.178G>A c.(178-180)Gat>Aat p.D60N NM_012113.1 NP_036245.1 Q9ULX7 CAH14_HUMAN carbonic anhydrase XIV 60 integral to membrane carbonate dehydratase activity|metal ion binding central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 18 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) ATTTGACCCTGATTTGCCTGC 0.552000 14 36 0 0 0.003163 0 0 HLA-A 3105 broad.mit.edu 37 6 29912344 29912344 + Silent SNP G G A rs45513603 TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:29912344G>A ENST00000396634.1 + 7 1304 c.963G>A c.(961-963)gtG>gtA p.V321V HLA-A_ENST00000376806.5_Silent_p.V321V|HLA-A_ENST00000376809.5_Silent_p.V321V|HLA-A_ENST00000376802.2_Intron P30443 1A01_HUMAN major histocompatibility complex, class I, A 321 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TTGGAGCTGTGATCACTGGAG 0.592000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 29 47 0 0 0.007835 0 0 FPGS 2356 broad.mit.edu 37 9 130569916 130569916 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:130569916C>T ENST00000373245.1 + 8 743 c.693C>T c.(691-693)ctC>ctT p.L231L FPGS_ENST00000393706.2_Silent_p.L205L|FPGS_ENST00000373225.3_Silent_p.L181L|FPGS_ENST00000373247.2_Silent_p.L231L|FPGS_ENST00000460181.1_3'UTR Q05932 FOLC_HUMAN folylpolyglutamate synthase 231 folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process cytosol|mitochondrial matrix ATP binding|tetrahydrofolylpolyglutamate synthase activity endometrium(2)|kidney(1)|lung(3)|ovary(1) 7 L-Glutamic Acid(DB00142) ACACCAGCCTCCTGGGGGATA 0.622000 4 25 0 0 0.001984 0 0 UBR4 23352 broad.mit.edu 37 1 19478158 19478158 + Missense_Mutation SNP C C T rs55848569 TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:19478158C>T ENST00000375267.2 - 48 7195 c.7192G>A c.(7192-7194)Gat>Aat p.D2398N UBR4_ENST00000375254.3_Missense_Mutation_p.D2398N|UBR4_ENST00000375217.2_Missense_Mutation_p.D2398N|UBR4_ENST00000375226.2_Missense_Mutation_p.D2398N Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2398 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) AGCTTCTTATCAGCCTGCAGG 0.537000 21 54 0 0 0.002780 0 0 BCAR3 8412 broad.mit.edu 37 1 94037340 94037340 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:94037340C>T ENST00000370244.1 - 11 2149 c.1861G>A c.(1861-1863)Gag>Aag p.E621K BCAR3_ENST00000370243.1_Missense_Mutation_p.E621K|BCAR3_ENST00000539242.1_Missense_Mutation_p.E297K|BCAR3_ENST00000370247.3_Missense_Mutation_p.E530K|BCAR3_ENST00000260502.6_Missense_Mutation_p.E621K NM_001261408.1 NP_001248337.1 O75815 BCAR3_HUMAN breast cancer anti-estrogen resistance 3 621 Ras-GEF. response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 25 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) GCTCGGTCCTCCAAAGTGCCC 0.557000 6 90 0 0 0.001984 0 0 TCTEX1D1 200132 broad.mit.edu 37 1 67236139 67236139 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:67236139G>A ENST00000282670.2 + 3 317 c.189G>A c.(187-189)caG>caA p.Q63Q TCTEX1D1_ENST00000491611.1_3'UTR NM_152665.2 NP_689878.2 Q8N7M0 TC1D1_HUMAN Tctex1 domain containing 1 63 large_intestine(2)|lung(10)|skin(1) 13 TTACAGTTCAGATGGAAAACA 0.348000 33 105 0 0 0.005524 0 0 SUMO3 6612 broad.mit.edu 37 21 46226908 46226908 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr21:46226908C>T ENST00000397898.3 - 4 402 c.320G>A c.(319-321)cGg>cAg p.R107Q SUMO3_ENST00000332859.6_Silent_p.T90T|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000411651.2_Silent_p.T128T P55854 SUMO3_HUMAN small ubiquitin-like modifier 3 0 protein sumoylation cytoplasm|kinetochore protein binding prostate(1) 1 Colorectal(79;0.058) GCACACCTCCCGTCTGCTGCT 0.612000 10 35 0 0 0.008291 0 0 SACS 26278 broad.mit.edu 37 13 23912713 23912713 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:23912713G>C ENST00000382298.3 - 10 5890 c.5302C>G c.(5302-5304)Cac>Gac p.H1768D SACS_ENST00000402364.1_Missense_Mutation_p.H1018D|SACS_ENST00000382292.3_Missense_Mutation_p.H1768D NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1768 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AACACATGGTGAAATTCTTCC 0.443000 22 140 0 0 0.012319 0 0 DOHH 83475 broad.mit.edu 37 19 3494073 3494073 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:3494073C>T ENST00000427575.1 - 3 755 c.304G>A c.(304-306)Gaa>Aaa p.E102K DOHH_ENST00000250937.3_Missense_Mutation_p.E102K NM_001145165.1 NP_001138637.1 Q9BU89 DOHH_HUMAN deoxyhypusine hydroxylase/monooxygenase 102 peptidyl-lysine modification to hypusine|post-translational protein modification cytosol deoxyhypusine monooxygenase activity|metal ion binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) TCCAGAACTTCCGGGTCCCCG 0.632000 5 14 0 0 0.000602 0 0 FMR1NB 158521 broad.mit.edu 37 X 147084799 147084799 + Missense_Mutation SNP A A T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:147084799A>T ENST00000370467.3 + 2 430 c.356A>T c.(355-357)gAt>gTt p.D119V NM_152578.2 NP_689791.1 Q8N0W7 FMR1N_HUMAN fragile X mental retardation 1 neighbor 119 integral to membrane breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) CTGGAAGAAGATTCCGCATTG 0.353000 26 62 0 0 0.003330 0 0 SPATA5 166378 broad.mit.edu 37 4 123844435 123844435 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:123844435G>A ENST00000274008.3 + 1 207 c.138G>A c.(136-138)ctG>ctA p.L46L SPATA5_ENST00000422835.2_3'UTR NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 46 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 CCGGGACTCTGACGGTGACCA 0.587000 35 84 0 0 0.003755 0 0 ASTN2 23245 broad.mit.edu 37 9 119976688 119976688 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:119976688G>C ENST00000313400.4 - 3 1064 c.964C>G c.(964-966)Ctg>Gtg p.L322V ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.L322V|ASTN2_ENST00000373996.3_Missense_Mutation_p.L322V O75129 ASTN2_HUMAN astrotactin 2 322 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 AGACTGTCCAGAGTGTGGGTC 0.552000 16 114 0 0 0.004007 0 0 CXCL3 2921 broad.mit.edu 37 4 74904074 74904074 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:74904074G>A ENST00000296026.4 - 2 234 c.157C>T c.(157-159)Cac>Tac p.H53Y CXCL3_ENST00000511669.1_5'UTR NM_002090.2 NP_002081.2 P19876 CXCL3_HUMAN chemokine (C-X-C motif) ligand 3 53 immune response|inflammatory response|neutrophil chemotaxis extracellular space chemokine activity central_nervous_system(1)|endometrium(1) 2 Breast(15;0.00612) all cancers(17;0.00273)|Lung(101;0.196) TTCTTGAGGTGAATTCCCTGC 0.607000 15 61 0 0 0.002450 0 0 DAAM1 23002 broad.mit.edu 37 14 59821922 59821922 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:59821922C>T ENST00000395125.1 + 20 2449 c.2426C>T c.(2425-2427)gCc>gTc p.A809V DAAM1_ENST00000351081.1_Missense_Mutation_p.A809V|DAAM1_ENST00000360909.3_Missense_Mutation_p.A799V|DAAM1_ENST00000553966.1_Intron NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 809 FH2. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) AGGAGTGGTGCCCTCAAGCAG 0.378000 40 118 0 0 0.014410 0 0 HRNR 388697 broad.mit.edu 37 1 152191644 152191644 + Missense_Mutation SNP C C G rs141963410 TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:152191644C>G ENST00000368801.2 - 3 2536 c.2461G>C c.(2461-2463)Gag>Cag p.E821Q FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 821 keratinization calcium ion binding|protein binding p.E821*(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGCCAGACTCGTGTTGCCCA 0.567000 11 45 0 0 0.008291 0 0 NMT1 4836 broad.mit.edu 37 17 43159088 43159088 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:43159088G>A ENST00000592782.1 + 3 339 c.208G>A c.(208-210)Gag>Aag p.E70K NMT1_ENST00000258960.2_Missense_Mutation_p.E70K|NMT1_ENST00000590114.1_3'UTR P30419 NMT1_HUMAN N-myristoyltransferase 1 70 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 8 Prostate(33;0.155) aaaaGGCAGTGAGACAGATTC 0.383000 7 8 0 0 0.001984 0 0 PTDSS1 9791 broad.mit.edu 37 8 97299316 97299316 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:97299316C>T ENST00000517309.1 + 4 709 c.383C>T c.(382-384)tCt>tTt p.S128F PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000455950.2_Intron NM_014754.1 NP_055569.1 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 128 phosphatidylserine biosynthetic process integral to membrane transferase activity endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1) 29 Breast(36;6.18e-05) Phosphatidylserine(DB00144) CAGGTTAAATCTCTAATGTAT 0.433000 31 185 0 0 0.008361 0 0 AHNAK 79026 broad.mit.edu 37 11 62296833 62296833 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:62296833C>G ENST00000378024.4 - 5 5330 c.5056G>C c.(5056-5058)Gat>Cat p.D1686H AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1686 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ATGTCAACATCTGGCACTTTC 0.488000 71 259 0 0 0.014410 0 0 WDR44 54521 broad.mit.edu 37 X 117526862 117526862 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:117526862G>C ENST00000254029.3 + 4 849 c.454G>C c.(454-456)Gat>Cat p.D152H WDR44_ENST00000371822.5_Missense_Mutation_p.D127H|WDR44_ENST00000371825.3_Missense_Mutation_p.D152H|WDR44_ENST00000493448.1_3'UTR NM_019045.4 NP_061918.3 Q5JSH3 WDR44_HUMAN WD repeat domain 44 152 Binding activity. cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 GAAACCAGTAGATGAAACCAC 0.378000 25 91 0 0 0.009535 0 0 CPEB1 64506 broad.mit.edu 37 15 83221346 83221346 + Nonsense_Mutation SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:83221346C>A ENST00000563800.1 - 8 2890 c.1165G>T c.(1165-1167)Gaa>Taa p.E389* CPEB1_ENST00000568757.1_Nonsense_Mutation_p.E287*|CPEB1_ENST00000562019.1_Nonsense_Mutation_p.E367*|RP11-152F13.10_ENST00000562833.1_Silent_p.S96S|CPEB1_ENST00000564522.1_Nonsense_Mutation_p.E287*|CPEB1_ENST00000398592.2_Nonsense_Mutation_p.E136*|CPEB1_ENST00000261723.6_Nonsense_Mutation_p.E365*|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000398591.2_Nonsense_Mutation_p.E292*|CPEB1_ENST00000450751.2_Nonsense_Mutation_p.E287*|CPEB1_ENST00000568128.1_Nonsense_Mutation_p.E362*|CPEB1_ENST00000423133.2_Nonsense_Mutation_p.E287* Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding protein 1 367 Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 1. mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(143;0.229) TTCTCTAGTTCGAAGACCAGA 0.493000 18 56 4.96729e-08 5.25237e-08 0.008871 1 0 TLE2 7089 broad.mit.edu 37 19 3028341 3028341 + Silent SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:3028341C>A ENST00000262953.6 - 3 424 c.162G>T c.(160-162)acG>acT p.T54T TLE2_ENST00000455444.2_5'UTR|TLE2_ENST00000586422.1_5'UTR|TLE2_ENST00000443826.3_5'UTR|TLE2_ENST00000590536.1_Silent_p.T54T|TLE2_ENST00000591529.1_Silent_p.T67T|TLE2_ENST00000426948.2_Silent_p.T67T NM_003260.4 NP_003251.2 Q04725 TLE2_HUMAN transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) 54 Gln-rich. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTGCATTTCCGTCTTCTCGC 0.592000 4 10 0.000602214 0.000620587 0.000602 1 0 PPP1R42 286187 broad.mit.edu 37 8 67926687 67926687 + Silent SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:67926687G>C ENST00000522909.1 - 3 454 c.270C>G c.(268-270)ctC>ctG p.L90L PPP1R42_ENST00000517834.1_Intron|PPP1R42_ENST00000324682.5_Silent_p.L90L Q7Z4L9 LRC67_HUMAN protein phosphatase 1, regulatory subunit 42 90 TTAATGACCTGAGGTTCTCTA 0.289000 12 68 0 0 0.003163 0 0 NOS2 4843 broad.mit.edu 37 17 26114730 26114730 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:26114730G>A ENST00000313735.6 - 5 674 c.441C>T c.(439-441)gtC>gtT p.V147V NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 147 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) AATATTGGTTGACAAATTCGA 0.537000 23 82 0 0 0.002780 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12837643 12837643 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:12837643C>T ENST00000357726.4 + 3 1380 c.1353C>T c.(1351-1353)ttC>ttT p.F451F NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 451 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTATTGTGTTCAGCACTGTCC 0.527000 25 73 0 0 0.004656 0 0 KCNH4 23415 broad.mit.edu 37 17 40318431 40318431 + Missense_Mutation SNP G G A rs140560707 TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:40318431G>A ENST00000264661.3 - 10 2056 c.1724C>T c.(1723-1725)tCg>tTg p.S575L KCNH4_ENST00000607371.1_Missense_Mutation_p.S575L NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 575 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) AGCGCAGAACGAGGTCTTGAT 0.622000 4 24 0 0 0.009096 0 0 VIT 5212 broad.mit.edu 37 2 37028511 37028511 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:37028511G>C ENST00000379242.3 + 13 1428 c.1126G>C c.(1126-1128)Gag>Cag p.E376Q VIT_ENST00000401530.1_Missense_Mutation_p.E340Q|VIT_ENST00000497382.1_Missense_Mutation_p.E30Q|VIT_ENST00000379241.3_Missense_Mutation_p.E339Q|VIT_ENST00000404084.1_Missense_Mutation_p.E313Q|VIT_ENST00000389975.3_Missense_Mutation_p.E361Q NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 361 VWFA 1. proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) GACAGCCATAGAGAAAATTAC 0.393000 39 106 0 0 0.010771 0 0 TBP 6908 broad.mit.edu 37 6 170873691 170873691 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:170873691C>T ENST00000392092.2 + 4 835 c.556C>T c.(556-558)Cgt>Tgt p.R186C TBP_ENST00000540980.1_Missense_Mutation_p.R166C|TBP_ENST00000230354.6_Missense_Mutation_p.R186C NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 186 cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) CATTGCACTTCGTGCCCGAAA 0.318000 11 34 0 0 0.013537 0 0 RNF213 57674 broad.mit.edu 37 17 78317686 78317686 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:78317686C>G ENST00000582970.1 + 28 6356 c.6213C>G c.(6211-6213)ttC>ttG p.F2071L RNF213_ENST00000336301.6_Missense_Mutation_p.F144L|RNF213_ENST00000508628.2_Missense_Mutation_p.F2120L NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 p.F144L(1) NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TGTTTCTTTTCAAGCTCCTCA 0.438000 18 89 0 0 0.010504 0 0 KIF4B 285643 broad.mit.edu 37 5 154397020 154397020 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:154397020G>C ENST00000435029.4 + 1 3761 c.3601G>C c.(3601-3603)Gaa>Caa p.E1201Q NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 1201 Globular (By similarity).|Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TGGAGCAACAGAATACCAACA 0.507000 7 25 0 0 0.001984 0 0 ACACB 32 broad.mit.edu 37 12 109613984 109613984 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:109613984G>C ENST00000338432.7 + 9 1472 c.1353G>C c.(1351-1353)ttG>ttC p.L451F ACACB_ENST00000543080.1_3'UTR|ACACB_ENST00000377848.3_Missense_Mutation_p.L451F|ACACB_ENST00000377854.5_Missense_Mutation_p.L451F O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 451 ATP-grasp.|Biotin carboxylation. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GTTTTCCATTGATGATCAAAG 0.512000 119 164 0 0 0.014410 0 0 RAD18 56852 broad.mit.edu 37 3 8940660 8940660 + Nonsense_Mutation SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:8940660C>A ENST00000264926.2 - 11 1356 c.1240G>T c.(1240-1242)Gaa>Taa p.E414* NM_020165.3 NP_064550.3 Q9NS91 RAD18_HUMAN RAD18 homolog (S. cerevisiae) 414 DNA repair nucleus|replication fork damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3) 15 OV - Ovarian serous cystadenocarcinoma(96;0.0552) CTGTCAGGTTCCAATTCCTCT 0.368000 Rad6 pathway 9 31 1.76689e-08 1.88469e-08 0.006214 1 0 BBS2 583 broad.mit.edu 37 16 56535295 56535295 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:56535295G>C ENST00000245157.5 - 10 1615 c.1195C>G c.(1195-1197)Cat>Gat p.H399D BBS2_ENST00000568104.1_Missense_Mutation_p.H399D NM_031885.3 NP_114091.3 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 399 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3) 26 AATTCTGTATGAGCAGTTTGG 0.478000 Bardet-Biedl syndrome 36 127 0 0 0.004878 0 0 YLPM1 56252 broad.mit.edu 37 14 75279341 75279341 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:75279341G>C ENST00000325680.7 + 11 5482 c.5358G>C c.(5356-5358)agG>agC p.R1786S YLPM1_ENST00000552421.1_Missense_Mutation_p.R1080S|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1591S NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1591 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GAGAACGAAGGACTTATCCTG 0.443000 5 8 0 0 0.001168 0 0 HSPA4 3308 broad.mit.edu 37 5 132439956 132439956 + Nonsense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:132439956C>G ENST00000304858.2 + 19 2640 c.2351C>G c.(2350-2352)tCa>tGa p.S784* NM_002154.3 NP_002145.3 P34932 HSP74_HUMAN heat shock 70kDa protein 4 784 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCTATAATTTCAAAGCCCAAA 0.433000 11 41 0 0 0.013537 0 0 OR2AT4 341152 broad.mit.edu 37 11 74799889 74799889 + Silent SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:74799889G>C ENST00000305159.3 - 1 910 c.870C>G c.(868-870)ctC>ctG p.L290L NM_001005285.1 NP_001005285.1 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, member 4 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 12 TGAGGGGGTTGAGAATTGGTG 0.483000 20 61 0 0 0.010504 0 0 CALCOCO2 10241 broad.mit.edu 37 17 46926688 46926688 + Silent SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:46926688C>A ENST00000258947.3 + 5 593 c.492C>A c.(490-492)atC>atA p.I164I CALCOCO2_ENST00000448105.2_Silent_p.I188I|CALCOCO2_ENST00000416445.2_Intron|CALCOCO2_ENST00000508679.1_Silent_p.I92I|CALCOCO2_ENST00000509507.1_Silent_p.I185I NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4 NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1 Q13137 CACO2_HUMAN calcium binding and coiled-coil domain 2 164 response to interferon-gamma|viral reproduction cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction protein homodimerization activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 15 ACAGCTGTATCAGCCTCCAGA 0.473000 32 72 2.68265e-12 2.87663e-12 0.013726 1 0 UBC 7316 broad.mit.edu 37 12 125398224 125398224 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:125398224C>G ENST00000536769.1 - 1 1670 c.94G>C c.(94-96)Gat>Cat p.D32H UBC_ENST00000339647.5_Missense_Mutation_p.D32H|UBC_ENST00000538617.1_Missense_Mutation_p.D32H|UBC_ENST00000536661.1_5'UTR|UBC_ENST00000546120.1_Missense_Mutation_p.D32H P0CG48 UBC_HUMAN ubiquitin C 32 Ubiquitin-like 1. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CCTTCCTTATCTTGGATCTTT 0.502000 13 175 0 0 0.003163 0 0 SPINK9 643394 broad.mit.edu 37 5 147715230 147715230 + Splice_Site SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:147715230C>T ENST00000377906.1 + 1 109 c.55_splice c.e1+1 p.F18_splice RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000511717.2_Intron NM_001040433.1 NP_001035523.1 Q5DT21 ISK9_HUMAN serine peptidase inhibitor, Kazal type 9 18 extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(1)|urinary_tract(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACCATGTTCAGTGAGTATC 0.433000 10 80 0 0 0.006214 0 0 FUNDC2P2 388965 broad.mit.edu 37 2 84517923 84517923 + RNA SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:84517923C>T ENST00000331369.5 + 0 117 CGTGTGTCCTCGCAAGACTAG 0.587000 3 17 0 0 0.004672 0 0 TUBD1 51174 broad.mit.edu 37 17 57963531 57963531 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:57963531G>A ENST00000325752.3 - 3 510 c.233C>T c.(232-234)tCa>tTa p.S78L TUBD1_ENST00000340993.6_Missense_Mutation_p.S78L|TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000592426.1_Missense_Mutation_p.S78L|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000394239.3_Missense_Mutation_p.S78L|TUBD1_ENST00000376094.4_Missense_Mutation_p.S78L NM_016261.3 NP_057345.2 Q9UJT1 TBD_HUMAN tubulin, delta 1 78 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2) 21 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) GGCAGCCTTTGACAGCATTTG 0.413000 6 75 0 0 0.001984 0 0 SNHG1 23642 broad.mit.edu 37 11 62620412 62620412 + RNA SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:62620412C>G ENST00000384756.1 - 0 95 NR_000008.2 TGGAACAAATCTTCCTCTTCT 0.413000 15 63 0 0 0.004990 0 0 TRPV5 56302 broad.mit.edu 37 7 142605909 142605909 + Nonsense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:142605909G>C ENST00000265310.1 - 15 2309 c.1961C>G c.(1960-1962)tCa>tGa p.S654* NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 654 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) CTCCTTGTCTGAGTTCTTGAA 0.522000 9 34 0 0 0.008291 0 0 ZNF444 55311 broad.mit.edu 37 19 56658417 56658417 + Missense_Mutation SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:56658417G>T ENST00000337080.3 + 3 504 c.137G>T c.(136-138)cGg>cTg p.R46L ZNF444_ENST00000592949.1_Missense_Mutation_p.R46L NM_001253792.1|NM_018337.3 NP_001240721.1|NP_060807.2 Q8N0Y2 ZN444_HUMAN zinc finger protein 444 46 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|lung(5) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0531) GCCCTGTGCCGGGACTGGCTG 0.746000 4 5 0.00024832 0.000257643 0.009096 1 0 GAK 2580 broad.mit.edu 37 4 844827 844827 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:844827G>A ENST00000314167.4 - 26 3664 c.3554C>T c.(3553-3555)tCc>tTc p.S1185F GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.S1106F NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 1185 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) GCCTTGATTGGACAACAGATC 0.468000 25 75 0 0 0.004656 0 0 MYO9B 4650 broad.mit.edu 37 19 17311114 17311114 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:17311114G>C ENST00000595618.1 + 25 4403 c.4251G>C c.(4249-4251)aaG>aaC p.K1417N MYO9B_ENST00000397274.2_Missense_Mutation_p.K1417N|MYO9B_ENST00000594824.1_Missense_Mutation_p.K1417N NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1417 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 CCACGTTTAAGAGGCTTTTTC 0.502000 4 22 0 0 0.009096 0 0 PTPRF 5792 broad.mit.edu 37 1 44069508 44069508 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:44069508G>A ENST00000359947.4 + 16 3025 c.2685G>A c.(2683-2685)aaG>aaA p.K895K PTPRF_ENST00000438120.1_Silent_p.K886K|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Silent_p.K886K|PTPRF_ENST00000372414.3_Silent_p.K895K|PTPRF_ENST00000422171.2_Silent_p.K243K NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 895 Fibronectin type-III 6. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TTGCTGCCAAGAACCGGGCTG 0.607000 11 26 0 0 0.008291 0 0 GIGYF2 26058 broad.mit.edu 37 2 233710554 233710554 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr2:233710554G>A ENST00000373566.3 + 27 3681 c.3484G>A c.(3484-3486)Gaa>Aaa p.E1162K GIGYF2_ENST00000409480.1_Missense_Mutation_p.E1162K|GIGYF2_ENST00000409547.1_Missense_Mutation_p.E1140K|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E1134K|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E1161K|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E1140K Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 1140 cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) GCAGTGGTGTGAACAGATGCT 0.453000 11 40 0 0 0.001855 0 0 MTIF3 219402 broad.mit.edu 37 13 28009980 28009980 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:28009980G>C ENST00000381116.1 - 7 903 c.669C>G c.(667-669)ttC>ttG p.F223L MTIF3_ENST00000405591.2_Missense_Mutation_p.F223L|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000381120.3_Missense_Mutation_p.F223L|MTIF3_ENST00000431572.2_Missense_Mutation_p.F223L Q9H2K0 IF3M_HUMAN mitochondrial translational initiation factor 3 223 regulation of translational initiation|ribosome disassembly mitochondrion ribosomal small subunit binding|translation initiation factor activity endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 7 Lung SC(185;0.0161) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157) GCCTAGATGAGAATGTAGCTA 0.383000 19 61 0 0 0.006122 0 0 OR1F2P 26184 broad.mit.edu 37 16 3266071 3266071 + RNA SNP A A G rs2550401 by1000genomes TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:3266071A>G ENST00000576468.1 + 0 418 GCCAACTCGAATGCTCTGCTG 0.562000 3 39 0 0 0.004672 0 0 BAG6 7917 broad.mit.edu 37 6 31606973 31606973 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:31606973C>T ENST00000404765.2 - 26 3713 c.3424G>A c.(3424-3426)Gaa>Aaa p.E1142K BAG6_ENST00000375964.6_Missense_Mutation_p.E1112K|BAG6_ENST00000211379.5_Missense_Mutation_p.E1106K|BAG6_ENST00000375976.4_Missense_Mutation_p.E1106K|BAG6_ENST00000362049.6_Missense_Mutation_p.E1057K|BAG6_ENST00000439687.2_Missense_Mutation_p.E883K P46379 BAG6_HUMAN BCL2-associated athanogene 6 1112 apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 TTGGGGTCTTCCTGCAGTCGT 0.537000 3 19 0 0 0.004672 0 0 EP300 2033 broad.mit.edu 37 22 41565529 41565529 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr22:41565529G>A ENST00000263253.7 + 26 5414 c.4195G>A c.(4195-4197)Gat>Aat p.D1399N RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1399 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.D1399N(5)|p.D1399Y(2) NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 ATCTTACCTCGATAGTGTTCA 0.338000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 13 55 0 0 0.004007 0 0 PAG1 55824 broad.mit.edu 37 8 81899695 81899695 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr8:81899695C>G ENST00000220597.4 - 6 894 c.184G>C c.(184-186)Gac>Cac p.D62H NM_018440.3 NP_060910.3 Q9NWQ8 PAG1_HUMAN phosphoprotein associated with glycosphingolipid microdomains 1 62 epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding|SH3/SH2 adaptor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2) 11 Lung NSC(7;5.76e-06)|all_lung(9;2e-05) BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197) ATCTCCTTGTCTGAAGGCTGa 0.448000 7 66 0 0 0.001984 0 0 KDM6B 23135 broad.mit.edu 37 17 7752247 7752247 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:7752247G>A ENST00000254846.5 + 11 3030 c.2641G>A c.(2641-2643)Gag>Aag p.E881K KDM6B_ENST00000448097.2_Missense_Mutation_p.E881K NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 881 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CTGGGCCCGGGAGCGCAGGGC 0.716000 4 11 0 0 0.000602 0 0 BIRC3 330 broad.mit.edu 37 11 102195711 102195711 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:102195711G>A ENST00000263464.3 + 2 3221 c.471G>A c.(469-471)ttG>ttA p.L157L BIRC3_ENST00000532808.1_Silent_p.L157L NM_001165.4 NP_001156.1 Q13489 BIRC3_HUMAN baculoviral IAP repeat containing 3 157 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1) 21 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0146) TTTCTGCCTTGATGAGAAGTT 0.408000 T MALT1 MALT 49 150 0 0 0.014410 0 0 WDR37 22884 broad.mit.edu 37 10 1123898 1123898 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:1123898C>G ENST00000358220.1 + 3 334 c.190C>G c.(190-192)Caa>Gaa p.Q64E WDR37_ENST00000263150.4_Missense_Mutation_p.Q64E|WDR37_ENST00000381329.1_Missense_Mutation_p.Q64E Q9Y2I8 WDR37_HUMAN WD repeat domain 37 64 breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1) 17 all_epithelial(10;0.0449)|Colorectal(49;0.142) Epithelial(11;0.134) ACTGTTTGGTCAAATAGAAAG 0.318000 19 63 0 0 0.002780 0 0 SMAD3 4088 broad.mit.edu 37 15 67482843 67482843 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr15:67482843C>T ENST00000327367.4 + 9 1557 c.1247C>T c.(1246-1248)tCc>tTc p.S416F SMAD3_ENST00000537194.2_Missense_Mutation_p.S221F|SMAD3_ENST00000439724.3_Missense_Mutation_p.S372F|SMAD3_ENST00000540846.2_Missense_Mutation_p.S311F NM_005902.3 NP_005893.1 P84022 SMAD3_HUMAN SMAD family member 3 416 MH2. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) CAGATGGGCTCCCCAAGCATC 0.547000 14 15 0 0 0.002450 0 0 TNFAIP2 7127 broad.mit.edu 37 14 103596165 103596165 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:103596165G>A ENST00000560869.1 + 4 1588 c.949G>A c.(949-951)Gag>Aag p.E317K TNFAIP2_ENST00000451723.2_Intron|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.E317K Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 317 angiogenesis|cell differentiation extracellular space NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 11 Melanoma(154;0.155) Epithelial(46;0.191) CCGACTGCTGGAGGCCACATT 0.662000 7 19 0 0 0.001984 0 0 MYO1F 4542 broad.mit.edu 37 19 8587564 8587564 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:8587564C>T ENST00000338257.8 - 26 3271 c.3004G>A c.(3004-3006)Gag>Aag p.E1002K NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 1002 unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 GTGTTGTGCTCTGAGGGCGGA 0.687000 7 24 0 0 0.001984 0 0 CCDC113 29070 broad.mit.edu 37 16 58296295 58296295 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:58296295G>C ENST00000219299.4 + 6 713 c.634G>C c.(634-636)Gag>Cag p.E212Q CCDC113_ENST00000443128.2_Missense_Mutation_p.E158Q NM_014157.3 NP_054876.2 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 212 protein complex large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1) 12 GTAGAAGGAAGAGGTGAGTGA 0.418000 29 94 0 0 0.013726 0 0 SETDB1 9869 broad.mit.edu 37 1 150923439 150923439 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:150923439G>A ENST00000271640.5 + 13 2276 c.2086G>A c.(2086-2088)Gag>Aag p.E696K SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.E696K NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 696 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) CTGTGTCAATGAGATTGACAC 0.468000 16 52 0 0 0.007413 0 0 SETD3 84193 broad.mit.edu 37 14 99929847 99929847 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:99929847C>G ENST00000331768.5 - 3 331 c.172G>C c.(172-174)Gag>Cag p.E58Q SETD3_ENST00000329331.3_Missense_Mutation_p.E58Q|SETD3_ENST00000453938.1_5'UTR|SETD3_ENST00000436070.2_Missense_Mutation_p.E58Q NM_032233.2 NP_115609.2 Q86TU7 SETD3_HUMAN SET domain containing 3 58 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) CGTATTTTCTCAACCAGAGTC 0.413000 4 22 0 0 0.009096 0 0 PCGF3 10336 broad.mit.edu 37 4 755157 755157 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:755157C>G ENST00000362003.5 + 9 948 c.553C>G c.(553-555)Ctg>Gtg p.L185V PCGF3_ENST00000521023.2_Missense_Mutation_p.L151V|PCGF3_ENST00000505655.2_Missense_Mutation_p.L185V|PCGF3_ENST00000470161.2_Missense_Mutation_p.L185V NM_006315.4 NP_006306.2 Q3KNV8 PCGF3_HUMAN polycomb group ring finger 3 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent PcG protein complex zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(1) 7 CGTCTTGCATCTGAAGAAGTT 0.488000 18 51 0 0 0.004990 0 0 HOOK1 51361 broad.mit.edu 37 1 60334000 60334000 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:60334000G>C ENST00000371208.3 + 20 2181 c.1924G>C c.(1924-1926)Gag>Cag p.E642Q HOOK1_ENST00000395561.2_Missense_Mutation_p.E600Q|HOOK1_ENST00000465876.1_3'UTR NM_015888.4 NP_056972.1 Q9UJC3 HOOK1_HUMAN hook microtubule-tethering protein 1 642 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1) 29 all_cancers(7;0.000129) GGCAGAGAAAGAGAGAAGAAT 0.303000 11 37 0 0 0.008291 0 0 WT1 7490 broad.mit.edu 37 11 32417879 32417879 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:32417879G>A ENST00000332351.3 - 7 1457 c.1173C>T c.(1171-1173)ttC>ttT p.F391F WT1_ENST00000379079.2_Silent_p.F179F|WT1_ENST00000530998.1_Silent_p.F162F|WT1_ENST00000448076.3_Silent_p.F391F NM_024424.3|NM_024426.4 NP_077742.2|NP_077744.3 P19544 WT1_HUMAN Wilms tumor 1 323 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding EWSR1/WT1(234) NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1) 533 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) AAGCACACATGAAGGGGCGTT 0.542000 """D, Mis, N, F, S""" EWSR1 """Wilms, desmoplastic small round cell tumor""" Wilms Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome 17 49 0 0 0.007413 0 0 IGHMBP2 3508 broad.mit.edu 37 11 68704300 68704300 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:68704300G>C ENST00000255078.3 + 13 2463 c.2352G>C c.(2350-2352)aaG>aaC p.K784N NM_002180.2 NP_002171.2 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 784 R3H. cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CTGTGAGCAAGAGGGCCCCGC 0.682000 5 17 0 0 0.001168 0 0 MCC 4163 broad.mit.edu 37 5 112418582 112418582 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr5:112418582C>T ENST00000302475.4 - 9 1752 c.1189G>A c.(1189-1191)Gag>Aag p.E397K MCC_ENST00000515367.2_Missense_Mutation_p.E334K|MCC_ENST00000408903.3_Missense_Mutation_p.E587K|MCC_ENST00000514701.3_5'UTR NM_002387.2 NP_002378.1 P23508 CRCM_HUMAN mutated in colorectal cancers 397 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) GTTTCCACCTCAAACTCTCTA 0.478000 23 81 0 0 0.005443 0 0 KCNH4 23415 broad.mit.edu 37 17 40318439 40318439 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:40318439G>C ENST00000264661.3 - 10 2048 c.1716C>G c.(1714-1716)atC>atG p.I572M KCNH4_ENST00000607371.1_Missense_Mutation_p.I572M NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 572 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) ACGAGGTCTTGATGTGCAGCG 0.627000 5 21 0 0 0.000602 0 0 TFAP2A 7020 broad.mit.edu 37 6 10404933 10404933 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:10404933G>C ENST00000379613.3 - 4 834 c.578C>G c.(577-579)tCc>tGc p.S193C TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379608.3_Missense_Mutation_p.S185C|TFAP2A_ENST00000482890.1_Missense_Mutation_p.S191C|TFAP2A_ENST00000319516.4_Missense_Mutation_p.S187C|TFAP2A_ENST00000379604.2_Missense_Mutation_p.S191C P05549 AP2A_HUMAN transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 191 ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding p.S191C(1)|p.S185C(1)|p.S187C(1) breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 13 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) AGGGATGGCGGAGACGGCATT 0.627000 11 52 0 0 0.010729 0 0 PHLPP1 23239 broad.mit.edu 37 18 60642651 60642651 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr18:60642651G>A ENST00000400316.4 + 16 4022 c.2241G>A c.(2239-2241)caG>caA p.Q747Q PHLPP1_ENST00000262719.5_Silent_p.Q1259Q NM_194449.3 NP_919431.2 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein phosphatase 1 1259 apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 CTGCTGGGCAGAAGCTTGGTG 0.527000 7 84 0 0 0.001984 0 0 BMP6 654 broad.mit.edu 37 6 7861772 7861772 + Missense_Mutation SNP C C G rs147293908 byFrequency TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:7861772C>G ENST00000283147.6 + 3 1105 c.946C>G c.(946-948)Ctg>Gtg p.L316V NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 316 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) CACTAGCAATCTGTGGGTTGT 0.502000 30 88 0 0 0.007291 0 0 SLC5A2 6524 broad.mit.edu 37 16 31499472 31499472 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:31499472G>C ENST00000330498.3 + 8 1018 c.999G>C c.(997-999)atG>atC p.M333I AC026471.6_ENST00000565137.1_RNA NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 333 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 TGCCAGGCATGATCAGCCGCA 0.627000 24 90 0 0 0.003330 0 0 THBS2 7058 broad.mit.edu 37 6 169623478 169623478 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:169623478C>G ENST00000366787.3 - 19 3115 c.2866G>C c.(2866-2868)Gag>Cag p.E956Q THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 956 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) AAGTCTGTCTCACTGATGGCA 0.468000 13 67 0 0 0.002450 0 0 PAGE5 90737 broad.mit.edu 37 X 55247872 55247872 + Silent SNP T T C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:55247872T>C ENST00000289619.5 + 2 362 c.117T>C c.(115-117)tcT>tcC p.S39S PAGE5_ENST00000374952.1_Silent_p.S19S|PAGE5_ENST00000374955.3_Silent_p.S19S NM_130467.3 NP_569734.2 Q96GU1 GGEE1_HUMAN P antigen family, member 5 (prostate associated) 39 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 ACCAAGAGTCTTCCCAGCCAG 0.348000 25 53 0 0 0.007291 0 0 PHTF2 57157 broad.mit.edu 37 7 77558594 77558594 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:77558594C>G ENST00000416283.2 + 10 1312 c.1186C>G c.(1186-1188)Cag>Gag p.Q396E PHTF2_ENST00000307305.8_Missense_Mutation_p.Q392E|PHTF2_ENST00000424760.1_Missense_Mutation_p.Q392E|PHTF2_ENST00000422959.2_Missense_Mutation_p.Q396E|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000248550.7_Missense_Mutation_p.Q430E|PHTF2_ENST00000275575.7_Missense_Mutation_p.Q392E NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 430 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 GGAAAATCATCAGATTAATCC 0.388000 5 14 0 0 0.000602 0 0 PIM3 415116 broad.mit.edu 37 22 50356510 50356510 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr22:50356510C>T ENST00000360612.4 + 5 1225 c.790C>T c.(790-792)Cca>Tca p.P264S NM_001001852.3 NP_001001852.2 Q86V86 PIM3_HUMAN pim-3 oncogene 264 Protein kinase. cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle ATP binding|protein binding|protein serine/threonine kinase activity all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247) GAGGGTCTCTCCAGGTGCGTG 0.682000 8 25 0 0 0.006214 0 0 COL24A1 255631 broad.mit.edu 37 1 86289244 86289244 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:86289244C>T ENST00000370571.2 - 45 4130 c.3764G>A c.(3763-3765)gGa>gAa p.G1255E COL24A1_ENST00000436319.1_Missense_Mutation_p.G1255E NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 1255 Collagen-like 14. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TCCTTTTAGTCCTTGTTCACC 0.338000 21 60 0 0 0.014323 0 0 KIAA1109 84162 broad.mit.edu 37 4 123109097 123109097 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:123109097C>G ENST00000264501.4 + 9 1048 c.675C>G c.(673-675)atC>atG p.I225M KIAA1109_ENST00000455637.1_Missense_Mutation_p.I225M|KIAA1109_ENST00000388738.3_Missense_Mutation_p.I225M Q2LD37 K1109_HUMAN KIAA1109 225 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 CTCTGTGCATCAACTTTGATG 0.358000 13 52 0 0 0.002450 0 0 PCDH17 27253 broad.mit.edu 37 13 58207078 58207078 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:58207078C>G ENST00000377918.3 + 1 424 c.398C>G c.(397-399)tCc>tGc p.S133C NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 133 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CCCTCCTTCTCCTCGGACCAG 0.612000 6 11 0 0 0.001984 0 0 AKAP11 11215 broad.mit.edu 37 13 42876840 42876840 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:42876840C>G ENST00000025301.2 + 8 4133 c.3958C>G c.(3958-3960)Ctt>Gtt p.L1320V NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 1320 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TCCGTTTATTCTTTCATTACC 0.398000 5 45 0 0 0.000602 0 0 SIRPB1 10326 broad.mit.edu 37 20 1559329 1559329 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr20:1559329C>G ENST00000381605.4 - 2 152 c.88G>C c.(88-90)Gag>Cag p.E30Q RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.E30Q|SIRPB1_ENST00000262929.5_Missense_Mutation_p.E29Q|SIRPB1_ENST00000381603.3_Missense_Mutation_p.E30Q NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 30 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 AGCTCGTCCTCACCTGCCACT 0.507000 7 93 0 0 0.003080 0 0 IFNA8 3445 broad.mit.edu 37 9 21409280 21409280 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:21409280G>A ENST00000380205.1 + 1 135 c.105G>A c.(103-105)agG>agA p.R35R NM_002170.3 NP_002161.2 P32881 IFNA8_HUMAN interferon, alpha 8 35 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 9 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174) TGGGTAACAGGAGGGCCTTGA 0.498000 30 85 0 0 0.007291 0 0 POLR1E 64425 broad.mit.edu 37 9 37486584 37486584 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:37486584C>T ENST00000377792.3 + 1 435 c.147C>T c.(145-147)ttC>ttT p.F49F POLR1E_ENST00000442009.2_Intron|POLR1E_ENST00000377798.4_Intron Q9GZS1 RPA49_HUMAN polymerase (RNA) I polypeptide E, 53kDa 49 rRNA transcription cell junction|cytoplasm|nucleolus DNA binding|DNA-directed RNA polymerase activity|protein binding autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1) 12 GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229) ACCCGAGCTTCCTTGCCATCC 0.582000 9 11 0 0 0.004482 0 0 RUFY2 55680 broad.mit.edu 37 10 70156607 70156607 + Nonsense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:70156607G>A ENST00000388768.2 - 4 759 c.433C>T c.(433-435)Cga>Tga p.R145* RUFY2_ENST00000602465.1_Nonsense_Mutation_p.R110*|RUFY2_ENST00000342616.4_Nonsense_Mutation_p.R110*|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000454950.2_Nonsense_Mutation_p.R52*|RUFY2_ENST00000472394.2_5'UTR NM_017987.4 NP_060457.4 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 159 RUN. nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 AGGGCTAATCGAAGCCACGCT 0.428000 17 38 0 0 0.008871 0 0 LCP1 3936 broad.mit.edu 37 13 46733075 46733075 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:46733075G>C ENST00000398576.2 - 6 502 c.114C>G c.(112-114)ttC>ttG p.F38L LCP1_ENST00000323076.2_Missense_Mutation_p.F38L P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 38 EF-hand 1. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) AAGCAGCCTTGAACAAGTCAT 0.433000 T BCL6 NHL 31 90 0 0 0.010818 0 0 TDRD6 221400 broad.mit.edu 37 6 46660213 46660213 + Nonsense_Mutation SNP G G T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:46660213G>T ENST00000544460.1 + 1 4602 c.4348G>T c.(4348-4350)Gaa>Taa p.E1450* TDRD6_ENST00000316081.6_Nonsense_Mutation_p.E1450* NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1450 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) AATAAGATGTGAATTTGTTAA 0.383000 33 109 2.5098e-30 2.7347e-30 0.004878 1 0 YIPF2 78992 broad.mit.edu 37 19 11036435 11036435 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:11036435G>A ENST00000586748.1 - 5 466 c.294C>T c.(292-294)atC>atT p.I98I YIPF2_ENST00000253031.2_Silent_p.I98I|YIPF2_ENST00000590329.1_Silent_p.I98I Q9BWQ6 YIPF2_HUMAN Yip1 domain family, member 2 98 integral to membrane|transport vesicle cervix(1)|endometrium(1)|lung(3)|ovary(2) 7 GTGAGCCTTTGATCCGGTCCA 0.602000 8 18 0 0 0.004482 0 0 MYCBP2 23077 broad.mit.edu 37 13 77699528 77699528 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:77699528C>G ENST00000407578.2 - 54 8226 c.7960G>C c.(7960-7962)Gag>Cag p.E2654Q MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000360084.5_Missense_Mutation_p.E79Q|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E2616Q|MYCBP2_ENST00000544440.2_Missense_Mutation_p.E2616Q NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2616 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GACCATGCCTCTCCTTCATCA 0.433000 43 162 0 0 0.010771 0 0 MYPN 84665 broad.mit.edu 37 10 69881415 69881415 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:69881415G>A ENST00000358913.5 + 2 708 c.220G>A c.(220-222)Gaa>Aaa p.E74K MYPN_ENST00000540630.1_Missense_Mutation_p.E74K|MYPN_ENST00000373675.3_Missense_Mutation_p.E74K|MYPN_ENST00000354393.2_Intron NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 74 Interaction with CARP. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 AGAATTAGACGAAAGTGTCAA 0.488000 12 50 0 0 0.013537 0 0 ANGPTL2 23452 broad.mit.edu 37 9 129851244 129851244 + Nonsense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:129851244G>A ENST00000373425.3 - 5 2073 c.1456C>T c.(1456-1458)Cga>Tga p.R486* RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.R184*|RALGPS1_ENST00000394022.3_Intron NM_012098.2 NP_036230.1 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 486 Fibrinogen C-terminal. multicellular organismal development|signal transduction extracellular space receptor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1) 18 GGGTTCGGTCGGATCATCATC 0.607000 23 111 0 0 0.003330 0 0 CWF19L1 55280 broad.mit.edu 37 10 102003530 102003530 + Missense_Mutation SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr10:102003530C>A ENST00000354105.4 - 10 1055 c.969G>T c.(967-969)caG>caT p.Q323H CWF19L1_ENST00000478047.1_Intron|CWF19L1_ENST00000370379.1_Missense_Mutation_p.Q78H NM_018294.4 NP_060764.3 Q69YN2 C19L1_HUMAN CWF19-like 1, cell cycle control (S. pombe) 323 catalytic activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2) 17 Colorectal(252;0.117) Epithelial(162;3.78e-10)|all cancers(201;3.1e-08) GTCCTGGAGGCTGAGCTTCAT 0.443000 29 90 1.88708e-17 2.04518e-17 0.008361 1 0 CENPI 2491 broad.mit.edu 37 X 100382652 100382652 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:100382652G>C ENST00000372927.1 + 10 1349 c.1072G>C c.(1072-1074)Gag>Cag p.E358Q CENPI_ENST00000372926.1_Missense_Mutation_p.E358Q|CENPI_ENST00000218507.5_Missense_Mutation_p.E358Q|CENPI_ENST00000423383.1_Missense_Mutation_p.E358Q NM_006733.2 NP_006724.2 Q92674 CENPI_HUMAN centromere protein I 358 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2) 30 CCATTGCTTAGAGGTATGTGA 0.353000 41 103 0 0 0.014410 0 0 TNFRSF4 7293 broad.mit.edu 37 1 1147457 1147457 + Nonsense_Mutation SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:1147457C>A ENST00000379236.3 - 5 503 c.499G>T c.(499-501)Gag>Tag p.E167* TNFRSF4_ENST00000453580.1_5'UTR NM_003327.3 NP_003318.1 P43489 TNR4_HUMAN tumor necrosis factor receptor superfamily, member 4 167 immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation integral to plasma membrane tumor necrosis factor receptor activity large_intestine(1)|lung(2)|urinary_tract(1) 4 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TCCCTGTCCTCACAGATTGCG 0.662000 6 18 0.00198382 0.00203057 0.001984 1 0 GGNBP2 79893 broad.mit.edu 37 17 34937844 34937844 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:34937844G>A ENST00000304718.4 + 9 1407 c.1091G>A c.(1090-1092)cGa>cAa p.R364Q NM_024835.3 NP_079111.1 Q9H3C7 GGNB2_HUMAN gametogenetin binding protein 2 364 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle p.R364L(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 38 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) GAAGAGGAACGAGTAAGAGAA 0.368000 29 60 0 0 0.008361 0 0 CACNA1A 773 broad.mit.edu 37 19 13356019 13356019 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:13356019C>T ENST00000360228.5 - 31 4926 c.4927G>A c.(4927-4929)Gat>Aat p.D1643N CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Missense_Mutation_p.D1644N NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1644 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) ACGAGGATATCGGTGATGCTG 0.582000 18 38 0 0 0.012319 0 0 AL133373.1 0 broad.mit.edu 37 14 92040776 92040776 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:92040776C>T ENST00000596306.1 - 1 607 c.181G>A c.(181-183)Gag>Aag p.E61K AGCCGCCGCTCGGGTGTACTG 0.657000 5 8 0 0 0.000602 0 0 TRPM6 140803 broad.mit.edu 37 9 77354741 77354741 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:77354741G>A ENST00000451710.3 - 33 5634 c.5397C>T c.(5395-5397)ctC>ctT p.L1799L TRPM6_ENST00000376872.3_Silent_p.L750L|TRPM6_ENST00000361255.3_Silent_p.L1790L|TRPM6_ENST00000449912.2_Silent_p.L1790L|TRPM6_ENST00000376864.4_Silent_p.L1799L|TRPM6_ENST00000360774.1_Silent_p.L1795L|TRPM6_ENST00000376871.3_Silent_p.L632L Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1795 Alpha-type protein kinase. response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GTCCCGGCTTGAGAATGTCAT 0.507000 53 71 0 0 0.014410 0 0 SLC17A3 10786 broad.mit.edu 37 6 25862525 25862525 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr6:25862525G>C ENST00000397060.4 - 3 348 c.239C>G c.(238-240)tCt>tGt p.S80C SLC17A3_ENST00000361703.6_Missense_Mutation_p.S80C|SLC17A3_ENST00000360657.3_Missense_Mutation_p.S80C NM_001098486.1 NP_001091956.1 O00476 NPT4_HUMAN solute carrier family 17 (organic anion transporter), member 3 80 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1) 20 CAGCACCTCAGAGGAATCATT 0.428000 5 64 0 0 0.000602 0 0 NAP1L3 4675 broad.mit.edu 37 X 92928297 92928297 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chrX:92928297C>G ENST00000373079.3 - 1 270 c.7G>C c.(7-9)Gaa>Caa p.E3Q NAP1L3_ENST00000475430.1_Intron NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 3 nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 AAATCTGCTTCTGCCATCTTG 0.562000 17 55 0 0 0.008871 0 0 DNM2 1785 broad.mit.edu 37 19 10870479 10870479 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:10870479C>T ENST00000314646.5 + 2 391 c.227C>T c.(226-228)tCa>tTa p.S76L DNM2_ENST00000408974.4_Missense_Mutation_p.S76L|DNM2_ENST00000389253.4_Missense_Mutation_p.S76L|DNM2_ENST00000359692.6_Missense_Mutation_p.S76L|DNM2_ENST00000355667.6_Missense_Mutation_p.S76L|DNM2_ENST00000585892.1_Missense_Mutation_p.S76L P50570 DYN2_HUMAN dynamin 2 76 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) CTCATCTTCTCAAAAACAGGT 0.577000 """F, N, Splice, Mis, O""" ETP ALL 33 97 0 0 0.013726 0 0 MAP3K14 9020 broad.mit.edu 37 17 43364681 43364681 + RNA SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:43364681C>A ENST00000344686.2 - 0 484 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 14 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 ATTTTGCCCTCTGTAGCATGG 0.522000 7 31 0.000157383 0.000163571 0.003080 1 0 DOHH 83475 broad.mit.edu 37 19 3494056 3494056 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:3494056C>T ENST00000427575.1 - 3 772 c.321G>A c.(319-321)ctG>ctA p.L107L DOHH_ENST00000250937.3_Silent_p.L107L NM_001145165.1 NP_001138637.1 Q9BU89 DOHH_HUMAN deoxyhypusine hydroxylase/monooxygenase 107 peptidyl-lysine modification to hypusine|post-translational protein modification cytosol deoxyhypusine monooxygenase activity|metal ion binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) AATACTGCTTCAGGATCTCCA 0.642000 4 15 0 0 0.009096 0 0 KIAA0368 23392 broad.mit.edu 37 9 114134893 114134893 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr9:114134893G>A ENST00000259335.4 - 43 4877 c.4878C>T c.(4876-4878)atC>atT p.I1626I KIAA0368_ENST00000338205.5_Silent_p.I1448I|KIAA0368_ENST00000374378.3_5'UTR NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 AGGTCTTGTAGATAGGTTCTG 0.348000 4 22 0 0 0.009096 0 0 TMEM209 84928 broad.mit.edu 37 7 129841908 129841908 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:129841908C>T ENST00000397622.2 - 5 477 c.355G>A c.(355-357)Gat>Aat p.D119N RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Missense_Mutation_p.D118N|TMEM209_ENST00000462753.1_Missense_Mutation_p.D118N|TMEM209_ENST00000473456.1_Missense_Mutation_p.D119N NM_032842.3 NP_116231.2 Q96SK2 TM209_HUMAN transmembrane protein 209 119 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 12 Melanoma(18;0.0435) GCTGCCAGATCATGTGGAGGC 0.428000 7 29 0 0 0.004482 0 0 EXTL2 2135 broad.mit.edu 37 1 101339776 101339776 + Missense_Mutation SNP C C T rs142198700 TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:101339776C>T ENST00000370114.3 - 5 2151 c.715G>A c.(715-717)Gat>Aat p.D239N EXTL2_ENST00000370113.3_Missense_Mutation_p.D239N|EXTL2_ENST00000535414.1_Missense_Mutation_p.D226N NM_001033025.2|NM_001261440.1 NP_001028197.1|NP_001248369.1 Q9UBQ6 EXTL2_HUMAN exostosin-like glycosyltransferase 2 239 N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 14 all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195) TTTTGAGTATCATCTATCAAA 0.383000 7 14 0 0 0.001984 0 0 APOL1 8542 broad.mit.edu 37 22 36661869 36661869 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr22:36661869G>C ENST00000319136.4 + 7 1302 c.1035G>C c.(1033-1035)atG>atC p.M345I APOL1_ENST00000422706.1_Missense_Mutation_p.M329I|APOL1_ENST00000397278.3_Missense_Mutation_p.M329I|APOL1_ENST00000347595.7_Missense_Mutation_p.M208I|APOL1_ENST00000426053.1_Missense_Mutation_p.M311I|APOL1_ENST00000397279.4_Missense_Mutation_p.M329I NM_145343.2 NP_663318.1 O14791 APOL1_HUMAN apolipoprotein L, 1 329 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 14 TCCTGGAAATGAGCAGAGGAG 0.542000 6 47 0 0 0.001984 0 0 USP32 84669 broad.mit.edu 37 17 58288742 58288742 + Silent SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:58288742G>C ENST00000300896.4 - 20 2507 c.2313C>G c.(2311-2313)ctC>ctG p.L771L USP32_ENST00000592339.1_Silent_p.L441L NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 771 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) ATTACCTGTTGAGTTCATAAA 0.408000 8 120 0 0 0.006214 0 0 ADPRHL1 113622 broad.mit.edu 37 13 114079395 114079395 + Missense_Mutation SNP T T C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr13:114079395T>C ENST00000356501.4 - 5 675 c.500A>G c.(499-501)gAc>gGc p.D167G ADPRHL1_ENST00000375418.3_Missense_Mutation_p.D249G NM_199162.1 NP_954631.1 Q8NDY3 ARHL1_HUMAN ADP-ribosylhydrolase like 1 249 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 11 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116) ATCATAATTGTCGGGGAAGAT 0.438000 15 69 0 0 0.007413 0 0 ADAM11 4185 broad.mit.edu 37 17 42855094 42855094 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:42855094G>A ENST00000200557.6 + 23 2102 c.1933G>A c.(1933-1935)Gac>Aac p.D645N ADAM11_ENST00000535346.1_Missense_Mutation_p.D445N NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 645 Cys-rich. integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) GGACGGCTCTGACCTGAGCTA 0.642000 9 31 0 0 0.006214 0 0 HAS3 3038 broad.mit.edu 37 16 69148496 69148496 + Missense_Mutation SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:69148496G>A ENST00000306560.1 + 4 1145 c.989G>A c.(988-990)cGa>cAa p.R330Q HAS3_ENST00000569188.1_Missense_Mutation_p.R330Q|HAS3_ENST00000219322.3_Intron NM_005329.2 NP_005320.2 O00219 HAS3_HUMAN hyaluronan synthase 3 330 carbohydrate metabolic process integral to plasma membrane hyaluronan synthase activity p.R330Q(1) cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2) 16 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.0694) CTTGGCTACCGAACTAAGTAT 0.582000 16 40 0 0 0.004990 0 0 SLC26A10 65012 broad.mit.edu 37 12 58018660 58018660 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:58018660C>T ENST00000379218.2 + 11 1657 c.1346C>T c.(1345-1347)tCc>tTc p.S449F SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000320442.4_Silent_p.V413V Q8NG04 S2610_HUMAN solute carrier family 26, member 10 0 STAS. integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) TCCTCCAGGTCCCGGGGCTCT 0.587000 19 69 0 0 0.012319 0 0 CD2BP2 10421 broad.mit.edu 37 16 30365574 30365574 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:30365574C>T ENST00000305596.3 - 3 323 c.148G>A c.(148-150)Gat>Aat p.D50N CD2BP2_ENST00000569466.1_Missense_Mutation_p.D50N NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 50 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 TCCTCCTCATCGCTATCCAAA 0.527000 61 189 0 0 0.014410 0 0 LRP6 4040 broad.mit.edu 37 12 12284896 12284896 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:12284896C>T ENST00000261349.4 - 18 3905 c.3829G>A c.(3829-3831)Gaa>Aaa p.E1277K BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'UTR|LRP6_ENST00000543091.1_Intron NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 1277 LDL-receptor class A 1. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) CTGTGGTCTTCACATTCAGTA 0.498000 11 51 0 0 0.008291 0 0 NTM 50863 broad.mit.edu 37 11 132082033 132082033 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:132082033C>G ENST00000374786.1 + 3 997 c.518C>G c.(517-519)tCt>tGt p.S173C NTM_ENST00000374784.1_Missense_Mutation_p.S173C|NTM_ENST00000539799.1_Missense_Mutation_p.S173C|NTM_ENST00000427481.2_Missense_Mutation_p.S164C|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_Missense_Mutation_p.S173C|NTM_ENST00000425719.2_Missense_Mutation_p.S173C NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 173 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 AGACACATCTCTCCCAAAGGT 0.443000 18 66 0 0 0.006122 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8650504 8650504 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr19:8650504C>T ENST00000270328.4 - 22 2967 c.2701G>A c.(2701-2703)Gat>Aat p.D901N ADAMTS10_ENST00000595838.1_Missense_Mutation_p.D388N|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.D901N Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 901 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 ACGCCTGCATCGCAGCTGCGG 0.672000 7 13 0 0 0.003080 0 0 SYNE2 23224 broad.mit.edu 37 14 64691209 64691209 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr14:64691209G>C ENST00000357395.3 + 114 20643 c.9499G>C c.(9499-9501)Gag>Cag p.E3167Q SYNE2_ENST00000458046.2_Missense_Mutation_p.E453Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.E660Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.E6782Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.E3439Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.E565Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6698Q|SYNE2_ENST00000441438.2_Missense_Mutation_p.E327Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E3167Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6805Q Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6782 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CAGCTTCGACGAGGTAGACTC 0.517000 9 83 0 0 0.008291 0 0 FDX1 2230 broad.mit.edu 37 11 110306635 110306635 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:110306635C>T ENST00000260270.2 + 2 501 c.263C>T c.(262-264)tCt>tTt p.S88F NM_004109.4 NP_004100.1 P10109 ADX_HUMAN ferredoxin 1 88 2Fe-2S ferredoxin-type. electron transport chain|transport mitochondrial matrix 2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding lung(2) 2 all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228) Mitotane(DB00648) GTTGGTGATTCTCTGCTAGAT 0.323000 12 39 0 0 0.001855 0 0 MYRIP 25924 broad.mit.edu 37 3 40223839 40223839 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr3:40223839G>A ENST00000302541.6 + 9 1344 c.1002G>A c.(1000-1002)aaG>aaA p.K334K MYRIP_ENST00000444716.1_Silent_p.K334K|MYRIP_ENST00000396217.3_Silent_p.K245K|MYRIP_ENST00000539167.1_Silent_p.K147K|MYRIP_ENST00000425621.1_Silent_p.K334K|MYRIP_ENST00000459828.1_3'UTR NM_015460.2 NP_056275.2 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 334 Myosin-binding. intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) CCAGCTGGAAGAGTGTGGACA 0.522000 9 29 0 0 0.004482 0 0 PLEKHB1 58473 broad.mit.edu 37 11 73372592 73372592 + Missense_Mutation SNP G G C TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr11:73372592G>C ENST00000354190.5 + 8 1108 c.677G>C c.(676-678)gGa>gCa p.G226A PLEKHB1_ENST00000398492.4_Missense_Mutation_p.G191A|PLEKHB1_ENST00000535129.1_Missense_Mutation_p.G172A|PLEKHB1_ENST00000398494.4_Missense_Mutation_p.G207A|PLEKHB1_ENST00000227214.6_Missense_Mutation_p.G172A|PLEKHB1_ENST00000543085.1_Missense_Mutation_p.G121A NM_021200.2 NP_067023.1 Q9UF11 PKHB1_HUMAN pleckstrin homology domain containing, family B (evectins) member 1 226 multicellular organismal development|phototransduction cytoplasm|integral to membrane signal transducer activity endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 7 ATGCTTGCGGGAGCCGCCACT 0.692000 OREG0021217 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 62 0 0 0.003080 0 0 OXLD1 339229 broad.mit.edu 37 17 79632428 79632428 + Nonsense_Mutation SNP C C A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:79632428C>A ENST00000374741.3 - 2 257 c.247G>T c.(247-249)Gag>Tag p.E83* OXLD1_ENST00000571503.1_3'UTR|OXLD1_ENST00000573786.1_5'UTR NM_001039842.1 NP_001034931.1 oxidoreductase-like domain containing 1 GGCTGGAGCTCAGGTGGCAGC 0.657000 8 23 1.76689e-08 1.88469e-08 0.006214 1 0 NOTCH2 4853 broad.mit.edu 37 1 120480487 120480487 + Frame_Shift_Del DEL G G - TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr1:120480487delG ENST00000256646.2 - 20 3549 c.3330delC c.(3328-3330)tcfs p.S1110fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1110 EGF-like 29. anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TACCTCTCCTGGAGGCTGCTA 0.483 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 14 43 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187549762 187549763 + Frame_Shift_Ins INS - - A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr4:187549762_187549763insA ENST00000441802.2 - 8 4687_4688 c.4478_4479insT c.(4477-4479)ccafs p.P1493fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1493 Cadherin 13. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TACTGCTCTGCAGAGTGTAGAT 0.416 HNSCC(5;0.00058) 12 48 --- --- --- --- TRBV29-1 28558 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 2 4 --- --- --- --- IFT81 28981 broad.mit.edu 37 12 110628806 110628806 + Frame_Shift_Del DEL G G - TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr12:110628806delG ENST00000242591.5 + 13 1926 c.1420delG c.(1420-1422)aafs p.E474fs IFT81_ENST00000552912.1_Frame_Shift_Del_p.E474fs NM_014055.3 NP_054774.2 Q8WYA0 IFT81_HUMAN intraflagellar transport 81 homolog (Chlamydomonas) 474 cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1) 10 ACTGAAGAGTGAAGTTGATGA 0.333 34 76 --- --- --- --- LONP2 83752 broad.mit.edu 37 16 48286135 48286135 + Frame_Shift_Del DEL G G - TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr16:48286135delG ENST00000285737.4 + 2 420 c.327delG c.(325-327)cafs p.Q109fs LONP2_ENST00000535754.1_Frame_Shift_Del_p.Q109fs NM_031490.2 NP_113678.2 Q86WA8 LONP2_HUMAN lon peptidase 2, peroxisomal 109 Lon. misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 GCCGTTTCCAGATTGTACAGG 0.507 14 30 --- --- --- --- WDR81 124997 broad.mit.edu 37 17 1631341 1631343 + In_Frame_Del DEL GAG GAG - rs66598941 TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:1631341_1631343delGAG ENST00000409644.1 + 1 3088_3090 c.3088_3090delGAG c.(3088-3090)del p.E1033del WDR81_ENST00000437219.2_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000309182.5_5'UTR|RP11-961A15.1_ENST00000576540.1_RNA NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 305 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AGGGGCTGCTGAGGAGGAGGAGA 0.695 4 6 --- --- --- --- RAP1GAP2 23108 broad.mit.edu 37 17 2930332 2930332 + Frame_Shift_Del DEL C C - TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr17:2930332delC ENST00000254695.8 + 22 2165 c.2075delC c.(2074-2076)gcfs p.A692fs RAP1GAP2_ENST00000542807.1_Frame_Shift_Del_p.A692fs|RAP1GAP2_ENST00000540393.2_Frame_Shift_Del_p.A673fs|RAP1GAP2_ENST00000366401.4_Frame_Shift_Del_p.A677fs NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 692 Ser-rich. regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 GGGGCAGCTGCCACCCCGATC 0.647 2 4 --- --- --- --- TMPRSS15 5651 broad.mit.edu 37 21 19725330 19725331 + Frame_Shift_Ins INS - - A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fdb4698-4a38-4a81-a403-d1ce5568c225 01aea99d-e331-4b02-a0cd-e9df66a08d9c g.chr21:19725330_19725331insA ENST00000284885.3 - 10 1093_1094 c.1060_1061insT c.(1060-1062)tttfs p.F354fs NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 354 MAM. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity p.C354F(1) NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 GACCCAGAAACAAAAGCCATCC 0.332 27 93 --- --- --- ---