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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut MET 4233 broad.mit.edu 37 7 116403126 116403126 + Nonsense_Mutation SNP C A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:116403126C>A uc003vij.3 + 10 2574 c.2387C>A c.(2386-2388)tCa>tAa p.S796* MET_uc022akk.1_Nonsense_Mutation_p.S796*|MET_uc010lkh.3_Nonsense_Mutation_p.S814*|MET_uc011knh.1_Missense_Mutation_p.Q763K|MET_uc011kni.2_Nonsense_Mutation_p.S796*|MET_uc011knj.2_Nonsense_Mutation_p.S366* NM_000245 NP_000236 P08581 MET_HUMAN Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA. 796 IPT/TIG 3. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CGCTCTAATTCAGAGATAATC 0.413000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 107 106 7.82945e-61 8.03081e-61 1 1 0 SRPX 8406 broad.mit.edu 37 X 38020250 38020250 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chrX:38020250G>A uc004ddy.2 - 5 843 c.711C>T c.(709-711)atC>atT p.I237I SRPX_uc011mki.2_Silent_p.I237I|SRPX_uc004ddz.2_Silent_p.I217I|SRPX_uc011mkh.2_Silent_p.I178I NM_006307 NP_006298 P78539 SRPX_HUMAN Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA. 237 HYR. cell adhesion cell surface|membrane autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 CTGTGTACTGGATCTTGTGGT 0.418000 23 68 0 0 1 0 0 TTI1 9675 broad.mit.edu 37 20 36641352 36641352 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr20:36641352G>A uc002xhl.3 - 2 1076 c.867C>T c.(865-867)atC>atT p.I289I TTI1_uc002xhm.3_Silent_p.I289I NM_014657 NP_055472 O43156 TTI1_HUMAN Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA. 289 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 TTTTAATAAGGATAGTCAACT 0.443000 212 113 0 0 1 0 0 OR1B1 347169 broad.mit.edu 37 9 125391067 125391067 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:125391067G>A uc011lyz.2 - 0 748 c.748C>T c.(748-750)Cac>Tac p.H250Y NM_001004450 NP_001004450 Q8NGR6 OR1B1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA. 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S249P(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1) 16 ATGGTGAGGTGGGATCCACAG 0.532000 95 42 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166904178 166904178 + Nonsense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:166904178G>A uc002udo.4 - 9 1356 c.1129C>T c.(1129-1131)Cga>Tga p.R377* SCN1A_uc010fpk.3_Nonsense_Mutation_p.R377*|SCN1A_uc021vsb.1_Nonsense_Mutation_p.R377* NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 377 R -> Q (in GEFS+2; dbSNP:rs121917957). voltage-gated sodium channel complex voltage-gated sodium channel activity p.R377*(2) NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GTCATTAGTCGAAACAAGGAC 0.388000 118 69 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141773453 141773453 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:141773453C>T uc002tvj.1 - 12 2974 c.2002G>A c.(2002-2004)Gaa>Aaa p.E668K LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 668 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) TCATCTATTTCATCTTCCTCC 0.408000 TSP Lung(27;0.18) 123 73 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80726795 80726795 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:80726795G>A uc001szd.3 + 36 4338 c.4332G>A c.(4330-4332)atG>atA p.M1444I NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TTTGGGAAATGATTACTCCAT 0.363000 5 17 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414316 20414316 + Silent SNP G A A rs62640391 TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:20414316G>A uc003zoe.2 - 4 787 c.528C>T c.(526-528)agC>agT p.S176S MLLT3_uc011lne.1_Silent_p.S144S|MLLT3_uc011lnf.1_Silent_p.S173S|MLLT3_uc003zof.3_5'UTR NM_004529 NP_004520 P42568 AF9_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA. 176 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctactgctgctgctgctgc 0.522000 T MLL ALL 151 5 0 0 1 0 0 RHBDL1 9028 broad.mit.edu 37 16 727788 727788 + Silent SNP C A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr16:727788C>A uc002cis.1 + 6 1080 c.1053C>A c.(1051-1053)tcC>tcA p.S351S RHBDL1_uc002cir.1_Silent_p.S286S|RHBDL1_uc010uun.1_3'UTR|STUB1_uc002cit.3_5'Flank|STUB1_uc002ciu.3_5'Flank NM_003961 NP_003952 O75783 RHBL1_HUMAN Homo sapiens rhomboid, veinlet-like 1 (Drosophila) (RHBDL1), mRNA. 351 proteolysis|signal transduction integral to plasma membrane|membrane fraction calcium ion binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|lung(4)|urinary_tract(3) 9 Hepatocellular(780;0.0218) CAGTGAGCTCCGAGGTGGGCC 0.756000 18 10 0.0581538 0.0584989 1 1 0 BRAT1 221927 broad.mit.edu 37 7 2583261 2583261 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:2583261C>T uc003smi.3 - 4 1054 c.766G>A c.(766-768)Gca>Aca p.A256T BRAT1_uc003smh.4_5'Flank|BRAT1_uc021zyz.1_Missense_Mutation_p.A81T|BRAT1_uc003smj.2_Missense_Mutation_p.A256T NM_152743 NP_689956 Q6PJG6 BRAT1_HUMAN Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA. 256 response to ionizing radiation nucleus protein binding p.A256T(2) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 AACGAGTGTGCGGCGGGGATG 0.692000 283 5 0 0 1 0 0 TNFSF14 8740 broad.mit.edu 37 19 6669885 6669885 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:6669885C>T uc002mfk.2 - 1 578 c.196G>A c.(196-198)Gga>Aga p.G66R TNFSF14_uc002mfj.2_Intron NM_003807 NP_003798 O43557 TNF14_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA. 66 T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB 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 ACCATCTCTCCTAGACGCCAG 0.662000 90 68 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128297904 128297904 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:128297904C>T uc003qbk.3 - 26 4231 c.3864G>A c.(3862-3864)gaG>gaA p.E1288E PTPRK_uc010kfc.3_Silent_p.E1295E|PTPRK_uc003qbj.3_Silent_p.E1289E|PTPRK_uc011ebu.2_Silent_p.E1311E NM_002844 NP_002835 Q15262 PTPRK_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA. 1288 Tyrosine-protein phosphatase 2. cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) GCATCCCTTCCTCTGGCCAGT 0.378000 54 20 0 0 1 0 0 GRAMD2 196996 broad.mit.edu 37 15 72455638 72455638 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr15:72455638C>T uc002atq.3 - 9 949 c.925G>A c.(925-927)Gat>Aat p.D309N GRAMD2_uc010bis.2_Missense_Mutation_p.D309N|GRAMD2_uc010ukh.2_Missense_Mutation_p.D103N NM_001012642 NP_001012660 Q8IUY3 GRAM2_HUMAN Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA. 309 integral to membrane p.W308*(1) cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 13 AGCCGGTAATCCCAGAGCCTC 0.557000 73 43 0 0 1 0 0 INPP5J 27124 broad.mit.edu 37 22 31524590 31524590 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr22:31524590G>A uc003aju.4 + 8 2235 c.2143G>A c.(2143-2145)Gaa>Aaa p.E715K INPP5J_uc003ajw.3_Missense_Mutation_p.E151K|INPP5J_uc003ajt.4_Missense_Mutation_p.E347K|INPP5J_uc003ajv.4_Missense_Mutation_p.E348K|INPP5J_uc003ajs.4_Missense_Mutation_p.E348K|INPP5J_uc011alk.2_Missense_Mutation_p.E648K|INPP5J_uc010gwg.3_Missense_Mutation_p.E280K NM_001002837 NP_001002837 Q15735 PI5PA_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA. 715 Catalytic (Potential). cytoplasm|ruffle SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 12 CAGCCACATGGAATACACAGT 0.617000 123 74 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553980 140553980 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:140553980G>A uc003lit.3 + 0 1738 c.1564G>A c.(1564-1566)Gag>Aag p.E522K NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 522 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGGACTACGAGGCCCTGCA 0.711000 191 106 0 0 1 0 0 XKR3 150165 broad.mit.edu 37 22 17288788 17288788 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr22:17288788C>T uc002zlv.3 - 1 274 c.176G>A c.(175-177)cGa>cAa p.R59Q XKR3_uc011agf.2_Missense_Mutation_p.R59Q NM_175878 NP_787074 Q5GH77 XKR3_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA. 59 integral to membrane|plasma membrane p.R59Q(2)|p.R59*(1) central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) ATTAGCTTTTCGATAAATTTC 0.368000 82 47 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124315246 124315246 + Splice_Site SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:124315246G>A uc001uft.4 + 25 4216 c.4191_splice c.e25+1 p.K1397_splice NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 1397 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CCATTGAGAAGGTAAGACTTC 0.348000 10 34 0 0 1 0 0 OR51E1 143503 broad.mit.edu 37 11 4673818 4673818 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:4673818C>T uc021qcq.1 + 0 62 c.62C>T c.(61-63)cCt>cTt p.P21L OR51E1_uc001lzi.4_Missense_Mutation_p.P21L NM_152430 NP_689643 Q8TCB6 O51E1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA. 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2) 30 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) ATAGGCCTCCCTGGTTTAGAA 0.488000 332 81 0 0 1 0 0 SYT13 57586 broad.mit.edu 37 11 45274136 45274136 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:45274136G>A uc001myq.2 - 3 808 c.682C>T c.(682-684)Ccc>Tcc p.P228S SYT13_uc009yku.1_Missense_Mutation_p.P84S NM_020826 NP_001234916 Q7L8C5 SYT13_HUMAN Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA. 228 C2 1. transport vesicle p.P228T(2) breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2) 23 TCCGCCAGGGGGAGCACCAGG 0.682000 OREG0020928 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 104 97 0 0 1 0 0 FMNL2 114793 broad.mit.edu 37 2 153493002 153493002 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:153493002G>A uc002tye.3 + 21 3109 c.2742G>A c.(2740-2742)aaG>aaA p.K914K FMNL2_uc010fob.3_Silent_p.K370K|FMNL2_uc002tyf.3_Silent_p.K363K NM_052905 NP_443137 Q96PY5 FMNL2_HUMAN Homo sapiens formin-like 2 (FMNL2), mRNA. 914 FH2. actin cytoskeleton organization cytoplasm Rho GTPase binding|actin binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 ACTTGACCAAGAGAGAGTACA 0.488000 20 14 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43601920 43601920 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:43601920G>A uc001jal.3 + 4 1154 c.964G>A c.(964-966)Gac>Aac p.D322N RET_uc001jak.1_Missense_Mutation_p.D322N|RET_uc010qez.1_Missense_Mutation_p.D68N NM_020975 NP_066124 P07949 RET_HUMAN Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA. 322 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) GCTCCCCGGGGACACCTGGGC 0.652000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 34 16 0 0 1 0 0 TFG 10342 broad.mit.edu 37 3 100455446 100455446 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:100455446C>T uc003duf.3 + 5 792 c.607C>T c.(607-609)Cgt>Tgt p.R203C TFG_uc003due.3_Missense_Mutation_p.R203C|TFG_uc003dug.3_Missense_Mutation_p.R203C|TFG_uc003dui.3_Missense_Mutation_p.R203C NM_001007565 NP_006061 Q92734 TFG_HUMAN Homo sapiens TRK-fused gene (TFG), transcript variant 2, mRNA. 203 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm signal transducer activity TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9) large_intestine(4)|lung(2)|prostate(1)|stomach(1) 8 TGCAGAAGATCGTTCAGGAAC 0.527000 T """NTRK1, ALK""" """papillary thyroid, ALCL, NSCLC""" 85 40 0 0 1 0 0 SLC7A13 157724 broad.mit.edu 37 8 87229725 87229725 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr8:87229725C>T uc003ydq.1 - 2 1251 c.1153G>A c.(1153-1155)Gaa>Aaa p.E385K SLC7A13_uc003ydr.1_Missense_Mutation_p.E376K NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA. 385 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 AGATTGGGTTCCTGGTATCTC 0.274000 25 26 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26219626 26219626 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr22:26219626G>A uc003abz.1 + 12 2926 c.2676G>A c.(2674-2676)gaG>gaA p.E892E MYO18B_uc003aca.1_Silent_p.E773E|MYO18B_uc010guy.1_Silent_p.E773E|MYO18B_uc010guz.1_Silent_p.E773E|MYO18B_uc011aka.1_Silent_p.E46E|MYO18B_uc011akb.1_Silent_p.E405E NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 892 Myosin head-like. nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GGGGCCTCGAGGATGAGGAAA 0.577000 308 136 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140746158 140746158 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:140746158C>T uc003lju.2 + 0 2261 c.2261C>T c.(2260-2262)tCc>tTc p.S754F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.S754F NM_018918 NP_061741 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA. 760 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D754D(1) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGACCTATTCCCACGAGGTC 0.597000 221 103 0 0 1 0 0 CPN2 1370 broad.mit.edu 37 3 194061864 194061864 + Nonsense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:194061864C>T uc003fts.3 - 1 1658 c.1568G>A c.(1567-1569)tGg>tAg p.W523* CPN2_uc021xix.1_Nonsense_Mutation_p.W523* NM_001080513 NP_001073982 P22792 CPN2_HUMAN Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA. 523 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) CCTCAGGTCCCACTCCTGACT 0.642000 34 26 0 0 1 0 0 HAUS5 23354 broad.mit.edu 37 19 36109349 36109349 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:36109349C>T uc002oam.1 + 10 918 c.867C>T c.(865-867)tcC>tcT p.S289S NM_015302 NP_056117 O94927 HAUS5_HUMAN Homo sapiens HAUS augmin-like complex, subunit 5 (HAUS5), mRNA. 289 cell division|centrosome organization|mitosis|spindle assembly HAUS complex|centrosome|microtubule|spindle NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2) 16 CCCTGCCGTCCATGGTTCATC 0.632000 95 56 0 0 1 0 0 OR4K17 390436 broad.mit.edu 37 14 20586468 20586468 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr14:20586468C>T uc001vwo.1 + 0 903 c.903C>T c.(901-903)ttC>ttT p.F301F NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA. 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) TAGATAAGTTCCTTGCTGTGT 0.398000 47 22 0 0 1 0 0 ZNF615 284370 broad.mit.edu 37 19 52497581 52497581 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:52497581G>A uc002pyf.2 - 6 1098 c.781C>T c.(781-783)Cat>Tat p.H261Y AK128361_uc021uys.1_5'Flank|ZNF615_uc002pye.2_Missense_Mutation_p.H250Y|ZNF615_uc002pyh.2_Missense_Mutation_p.H261Y|ZNF615_uc010epi.2_Missense_Mutation_p.H257Y|ZNF615_uc002pyg.2_Missense_Mutation_p.H142Y|ZNF615_uc010ydg.2_Missense_Mutation_p.H255Y NM_001199324 NP_001186253 Q8N8J6 ZN615_HUMAN Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA. 250 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GTTCTCTGATGGTCCATTAGT 0.378000 154 65 0 0 1 0 0 IL2RG 3561 broad.mit.edu 37 X 70330749 70330749 + Silent SNP A G G TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chrX:70330749A>G uc004dyw.2 - 1 359 c.267T>C c.(265-267)taT>taC p.Y89Y IL2RG_uc004dyv.2_5'Flank|IL2RG_uc004dyx.2_Intron NM_000206 NP_000197 P31785 IL2RG_HUMAN Homo sapiens interleukin 2 receptor, gamma (IL2RG), mRNA. 89 Y -> C (in XSCID). immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding p.Y89F(1) breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 15 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) TCTCATACCAATAATGCAGAG 0.522000 Severe Combined Immunodeficiency, X-linked 36 3 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97869931 97869931 + Missense_Mutation SNP A T T rs76309140 TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:97869931A>T uc010yva.2 + 49 3236 c.2992A>T c.(2992-2994)Aca>Tca p.T998S ANKRD36_uc002sxp.3_Non-coding_Transcript NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA. 998 p.T998S(13) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CATTCAGGCTACAAGTGATGA 0.289000 20 4 0 0 1 0 0 BC101079 0 broad.mit.edu 37 15 102292829 102292829 + Missense_Mutation SNP C G G TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr15:102292829C>G uc010usj.2 + 3 476 c.417C>G c.(415-417)caC>caG p.H139Q DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank Homo sapiens cDNA clone IMAGE:40009338. p.H139Q(1) CGAGAAGACACTCGTGGAGGC 0.597000 65 3 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24177773 24177773 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr8:24177773G>A uc003xdy.3 + 6 684 c.601G>A c.(601-603)Gaa>Aaa p.E201K ADAM28_uc003xdx.3_Missense_Mutation_p.E201K|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 201 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) GAAGGTTCAGGAACATGAGAA 0.308000 118 50 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G C C rs141357429 by1000genomes TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:39274087G>C uc002hvz.3 - 0 520 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA. 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(2) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 45 7 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18631182 18631182 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:18631182C>T uc003sui.3 + 3 500 c.459C>T c.(457-459)ttC>ttT p.F153F HDAC9_uc003sue.3_Silent_p.F150F|HDAC9_uc011jyd.2_Silent_p.F150F|HDAC9_uc003suh.3_Silent_p.F150F|HDAC9_uc003suj.3_Silent_p.F153F|HDAC9_uc011jya.2_Silent_p.F192F|HDAC9_uc003sua.1_Silent_p.F172F|HDAC9_uc003sud.2_Silent_p.F150F|HDAC9_uc011jyc.2_Silent_p.F153F|HDAC9_uc011jyb.2_Silent_p.F150F|HDAC9_uc003suf.2_Silent_p.F181F|HDAC9_uc010kud.2_Silent_p.F153F|HDAC9_uc011jye.2_Silent_p.F122F|HDAC9_uc011jyf.2_Silent_p.F119F|HDAC9_uc010kue.1_5'UTR NM_178425 NP_848512 Q9UKV0 HDAC9_HUMAN Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA. 150 Interaction with MEF2 (By similarity). B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TTCAAGAGTTCCTACTGAGTA 0.453000 66 11 0 0 1 0 0 COL8A1 1295 broad.mit.edu 37 3 99513100 99513100 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:99513100G>A uc003dti.1 + 2 486 c.358G>A c.(358-360)Gaa>Aaa p.E120K MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.E119K|COL8A1_uc003dth.1_Missense_Mutation_p.E119K NM_020351 NP_065084 P27658 CO8A1_HUMAN Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA. 119 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII p.E119E(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 TTTACGAGGGGAACAAGGTCC 0.527000 31 17 0 0 1 0 0 ANKMY1 51281 broad.mit.edu 37 2 241463768 241463768 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:241463768G>A uc010fzd.1 - 7 1491 c.1366C>T c.(1366-1368)Ctt>Ttt p.L456F ANKMY1_uc002vzb.1_Missense_Mutation_p.L226F|ANKMY1_uc002vzc.1_Missense_Mutation_p.L226F|ANKMY1_uc002vyz.1_Missense_Mutation_p.L367F|ANKMY1_uc002vza.1_Missense_Mutation_p.L226F|ANKMY1_uc002vzd.1_Missense_Mutation_p.L226F|ANKMY1_uc010fze.2_Missense_Mutation_p.L36F|ANKMY1_uc002vze.3_Missense_Mutation_p.L128F NM_016552 NP_057636 Q9P2S6 ANKY1_HUMAN Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA. 367 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) GATGATGAAAGGATTGGAACA 0.443000 76 37 0 0 1 0 0 ZKSCAN1 7586 broad.mit.edu 37 7 99621447 99621447 + Silent SNP C A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:99621447C>A uc003usk.1 + 1 537 c.318C>A c.(316-318)tcC>tcA p.S106S ZKSCAN1_uc003usj.3_Silent_p.S105S|ZKSCAN1_uc003usl.1_Silent_p.S70S|ZKSCAN1_uc003usm.1_Intron NM_003439 NP_003430 P17029 ZKSC1_HUMAN Homo sapiens zinc finger with KRAB and SCAN domains 1 (ZKSCAN1), mRNA. 106 SCAN box. viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) AGTTTCTTTCCATCCTGCCCA 0.532000 168 63 4.45325e-31 4.53349e-31 1 1 0 GRIN2B 2904 broad.mit.edu 37 12 13764735 13764735 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:13764735G>A uc001rbt.2 - 7 1883 c.1704C>T c.(1702-1704)atC>atT p.I568I NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 568 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CGGCTGAGACGATGAGCAGCA 0.522000 119 59 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6924748 6924748 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:6924748C>T uc002mfw.3 + 14 1889 c.1851C>T c.(1849-1851)ctC>ctT p.L617L EMR1_uc010dvc.3_Intron|EMR1_uc010dvb.3_Silent_p.L565L|EMR1_uc010xji.2_Silent_p.L476L|EMR1_uc010xjj.2_Silent_p.L440L NM_001974 NP_001965 Q14246 EMR1_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA. 617 cell adhesion|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) TGGTGTGCCTCGTCTTGGCCA 0.512000 61 34 0 0 1 0 0 PLD2 5338 broad.mit.edu 37 17 4719065 4719065 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:4719065C>T uc002fzc.3 + 13 1417 c.1291C>T c.(1291-1293)Cgt>Tgt p.R431C PLD2_uc010vsj.2_Missense_Mutation_p.R288C|PLD2_uc002fzd.3_Missense_Mutation_p.R431C NM_002663 NP_002654 O14939 PLD2_HUMAN Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA. 431 cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2) 31 Choline(DB00122) CCAGGTGATGCGTCACCCAGA 0.567000 OREG0024105 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 113 5 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 14019093 14019093 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:14019093G>A uc001rbt.2 - 1 229 c.50C>T c.(49-51)gCc>gTc p.A17V NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 17 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding p.A17D(2) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGCCAGGACGGCCAACACCAA 0.557000 49 25 0 0 1 0 0 DPYSL5 56896 broad.mit.edu 37 2 27147809 27147809 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:27147809G>A uc002rhu.4 + 2 474 c.316G>A c.(316-318)Gag>Aag p.E106K DPYSL5_uc002rhv.4_Missense_Mutation_p.E106K|DPYSL5_uc021vev.1_Missense_Mutation_p.E106K NM_020134 NP_064519 Q9BPU6 DPYL5_HUMAN Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA. 106 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCCGACAAGGAGACCTCCCT 0.637000 36 22 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137212 40137212 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:40137212C>T uc021qgf.1 - 0 631 c.631G>A c.(631-633)Gaa>Aaa p.E211K LRRC4C_uc001mxc.1_Missense_Mutation_p.E207K|LRRC4C_uc001mxd.1_Missense_Mutation_p.E207K|LRRC4C_uc001mxa.1_Missense_Mutation_p.E211K|LRRC4C_uc001mxb.1_Missense_Mutation_p.E207K NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA. 211 regulation of axonogenesis integral to membrane protein binding p.E211*(2) NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TTAGGGATTTCCCGAAGGTTG 0.453000 141 43 0 0 1 0 0 NDUFB9 4715 broad.mit.edu 37 8 125551344 125551344 + Splice_Site SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr8:125551344C>T uc011lim.1 + 1 1 c.-84_splice c.e1-1 TATDN1_uc003yre.2_5'Flank|TATDN1_uc003yrd.2_5'Flank|TATDN1_uc010mdm.2_5'Flank|NDUFB9_uc003yrg.4_Splice_Site NM_005005 NP_004996 Q9Y6M9 NDUB9_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa (NDUFB9), nuclear gene encoding mitochondrial protein, mRNA. mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity p.?(1) kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 8 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) NADH(DB00157) GCAACTCCGCCCTTCCGGCTG 0.662000 77 56 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13394186 13394186 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:13394186G>A uc002mwy.3 - 21 3953 c.3717C>T c.(3715-3717)atC>atT p.I1239I CACNA1A_uc010dzc.2_Silent_p.I765I|CACNA1A_uc010xnd.2_Silent_p.I1242I|CACNA1A_uc021ups.1_Silent_p.I1239I|CACNA1A_uc010xne.2_Silent_p.I1242I|CACNA1A_uc010dze.2_Silent_p.I1239I|CACNA1A_uc021upt.1_Silent_p.I1240I NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 1240 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) GCAGGTTCAGGATGTAATGGC 0.572000 55 28 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77267115 77267115 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chrX:77267115C>T uc004ecx.4 + 8 2276 c.2116C>T c.(2116-2118)Ctt>Ttt p.L706F ATP7A_uc004ecw.2_3'UTR NM_000052 NP_000043 Q04656 ATP7A_HUMAN Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA. 706 L -> R (in MNKD). ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 GCGCCAGATTCTTCCAGGATT 0.348000 65 137 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503497 140503497 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:140503497C>T uc003lip.1 + 0 1917 c.1917C>T c.(1915-1917)ctC>ctT p.L639L NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. 639 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCACAGGCTCGTGGTGCTTG 0.687000 80 43 0 0 1 0 0 GRK1 6011 broad.mit.edu 37 13 114322182 114322182 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr13:114322182C>T uc010tkf.2 + 0 586 c.481C>T c.(481-483)Ccc>Tcc p.P161S NM_002929 NP_002920 Q15835 RK_HUMAN Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA. 161 N-terminal.|RGS. regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity ovary(2) 2 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.234) GGGCCAAGCCCCCTTCCAGGA 0.632000 17 6 0 0 1 0 0 SEMA3D 223117 broad.mit.edu 37 7 84651889 84651889 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:84651889C>T uc003uic.3 - 10 1272 c.1232G>A c.(1231-1233)cGa>cAa p.R411Q SEMA3D_uc010led.3_Missense_Mutation_p.R411Q|SEMA3D_uc003uib.3_Missense_Mutation_p.R50Q NM_152754 NP_689967 O95025 SEM3D_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA. 411 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 TGGAAAATCTCGGGTGGACTT 0.413000 257 76 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218682838 218682838 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:218682838C>T uc002vgt.2 - 23 4303 c.3905G>A c.(3904-3906)cGt>cAt p.R1302H TNS1_uc002vgr.2_Missense_Mutation_p.R1289H|TNS1_uc002vgs.2_Missense_Mutation_p.R1281H|TNS1_uc010zjv.1_Missense_Mutation_p.R1281H NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN Homo sapiens tensin 1 (TNS1), mRNA. 1302 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TCCGAGGTGACGGCCCAGGCT 0.652000 39 14 0 0 1 0 0 OR8I2 120586 broad.mit.edu 37 11 55861147 55861147 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:55861147C>T uc010rix.2 + 0 364 c.364C>T c.(364-366)Cgc>Tgc p.R122C NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA. 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122H(1) NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) GGCCTACAATCGCTACATAGC 0.433000 133 73 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83520203 83520203 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr16:83520203C>T uc010vns.2 + 7 1308 c.1044C>T c.(1042-1044)atC>atT p.I348I CDH13_uc002fgx.3_Silent_p.I301I|CDH13_uc010vnt.2_Silent_p.I47I|CDH13_uc010vnu.2_Silent_p.I262I NM_001220488 NP_001207417 P55290 CAD13_HUMAN Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA. 301 Cadherin 2. Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) TGTTCTACATCGATCCTGAGA 0.488000 88 59 0 0 1 0 0 SLC26A11 284129 broad.mit.edu 37 17 78196546 78196546 + Silent SNP C T T rs147696830 TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:78196546C>T uc002jyb.2 + 3 633 c.327C>T c.(325-327)tcC>tcT p.S109S SGSH_uc002jxz.4_5'Flank|SGSH_uc002jya.4_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.2_Silent_p.S109S|SLC26A11_uc002jyd.2_Silent_p.S109S|SLC26A11_uc010dhv.2_Silent_p.S109S NM_173626 NP_775897 Q86WA9 S2611_HUMAN Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA. 109 Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CCATTATGTCCCTCCTGGTCT 0.617000 237 126 0 0 1 0 0 CLASP1 23332 broad.mit.edu 37 2 122286277 122286277 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:122286277G>A uc002tnc.3 - 3 744 c.354C>T c.(352-354)atC>atT p.I118I CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Silent_p.I118I|CLASP1_uc010yza.2_Silent_p.I118I|CLASP1_uc021vnl.1_Silent_p.I118I|CLASP1_uc010yzc.2_Intron|CLASP1_uc002tng.1_Silent_p.I118I|RNU4ATAC_uc010yzd.1_5'Flank NM_015282 NP_056097 Q7Z460 CLAP1_HUMAN Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA. 118 G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) CTTGATCCATGATCTTTAGCA 0.498000 231 148 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35876293 35876293 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:35876293G>A uc003jjs.3 + 7 1174 c.1085G>A c.(1084-1086)gGa>gAa p.G362E IL7R_uc011cop.2_Non-coding_Transcript NM_002185 NP_002176 P16871 IL7RA_HUMAN Homo sapiens interleukin 7 receptor (IL7R), mRNA. 362 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity p.F361Y(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) GAAAGCTTTGGAAGAGATTCA 0.537000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 75 23 0 0 1 0 0 N4BP2 55728 broad.mit.edu 37 4 40115076 40115076 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr4:40115076C>T uc003guy.4 + 6 1950 c.1612C>T c.(1612-1614)Ctt>Ttt p.L538F N4BP2_uc010ifq.3_Missense_Mutation_p.L458F|N4BP2_uc010ifr.3_Missense_Mutation_p.L458F NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA. 538 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 ATATAAAGTCCTTTTTCGGGA 0.323000 184 84 0 0 1 0 0 TCRA 0 broad.mit.edu 37 14 22471689 22471689 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr14:22471689C>T uc001wct.4 + 1 217 c.112C>T c.(112-114)Ctg>Ttg p.L38L TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc010tmm.2_Intron Homo sapiens mRNA for T cell receptor alpha variable 19, partial cds, clone: SEB 336. GAGGGCAGCTCTGACATTAAA 0.443000 85 48 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189859466 189859466 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:189859466C>T uc002uqj.1 + 19 1481 c.1364C>T c.(1363-1365)cCa>cTa p.P455L MIR3606_uc021vtx.1_5'Flank NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 455 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GCTGGTATTCCAGGTGTTCCA 0.403000 66 38 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72999452 72999452 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr18:72999452C>T uc002lly.3 + 1 2518 c.1955C>T c.(1954-1956)gCc>gTc p.A652V TSHZ1_uc021uln.1_Missense_Mutation_p.A652V NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA. 697 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) GGCCCTGAGGCCGAGACTGGG 0.557000 77 33 0 0 1 0 0 ATP8B2 57198 broad.mit.edu 37 1 154319181 154319181 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:154319181C>T uc001fex.3 + 25 3209 c.3209C>T c.(3208-3210)gCc>gTc p.A1070V NM_020452 NP_065185 P98198 AT8B2_HUMAN Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA. 1056 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) ATCCTCTTTGCCATGCACAGC 0.532000 284 6 0 0 1 0 0 KLHL14 57565 broad.mit.edu 37 18 30260276 30260276 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr18:30260276C>T uc002kxm.1 - 6 1832 c.1444G>A c.(1444-1446)Gga>Aga p.G482R NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA. 482 cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 ACATATTCTCCATTGTGTACA 0.408000 148 69 0 0 1 0 0 KANSL3 55683 broad.mit.edu 37 2 97271122 97271122 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:97271122G>A uc002swn.4 - 14 2014 c.1868C>T c.(1867-1869)tCc>tTc p.S623F KANSL3_uc002swh.4_Missense_Mutation_p.S511F|KANSL3_uc002swi.4_Missense_Mutation_p.S550F|KANSL3_uc002swj.4_Non-coding_Transcript|KANSL3_uc002swk.4_Missense_Mutation_p.S536F|KANSL3_uc010fhz.3_Missense_Mutation_p.S443F|KANSL3_uc002swl.4_Missense_Mutation_p.S524F|KANSL3_uc002swm.4_Non-coding_Transcript|KANSL3_uc010yur.2_Missense_Mutation_p.S417F|KANSL3_uc002swo.3_5'UTR|KANSL3_uc002swp.1_Missense_Mutation_p.S524F NM_001115016 NP_060461 Q9P2N6 K1310_HUMAN Homo sapiens KAT8 regulatory NSL complex subunit 3 (KANSL3), transcript variant 1, mRNA. 649 GGAGATAAGGGACACCTTGAT 0.527000 75 41 0 0 1 0 0 KRT20 54474 broad.mit.edu 37 17 39036423 39036423 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:39036423C>T uc002hvl.3 - 3 779 c.721G>A c.(721-723)Gaa>Aaa p.E241K NM_019010 NP_061883 P35900 K1C20_HUMAN Homo sapiens keratin 20 (KRT20), mRNA. 241 Coil 2.|Rod. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) TGCCTCATTTCATTCATGATG 0.473000 98 69 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240565 39240565 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:39240565G>A uc010wfn.2 + 0 107 c.107G>A c.(106-108)aGg>aAg p.R36K NM_033061 NP_149050 Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA. NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 ACCTGTTGCAGGACCACCTGC 0.652000 74 42 0 0 1 0 0 PLD4 122618 broad.mit.edu 37 14 105396430 105396430 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr14:105396430G>A uc010tyl.1 + 5 884 c.726G>A c.(724-726)cgG>cgA p.R242R PLD4_uc001ypu.1_Silent_p.R235R NM_138790 NP_620145 Q96BZ4 PLD4_HUMAN Homo sapiens phospholipase D family, member 4 (PLD4), mRNA. 235 lipid catabolic process integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 13 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116) Choline(DB00122) TGGACTGGCGGTCTCTGACGC 0.602000 60 30 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138453028 138453028 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr4:138453028C>T uc003ihe.4 - 0 602 c.215G>A c.(214-216)gGa>gAa p.G72E PCDH18_uc003ihf.4_Missense_Mutation_p.G65E|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 72 Cadherin 1. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R71R(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) AGGAGAATTTCCCCTCTGCAT 0.433000 170 76 0 0 1 0 0 FOXI2 399823 broad.mit.edu 37 10 129536042 129536042 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:129536042G>A uc009yas.2 + 0 505 c.505G>A c.(505-507)Gac>Aac p.D169N BC132944_uc009yar.1_5'Flank NM_207426 NP_997309 Q6ZQN5 FOXI2_HUMAN Homo sapiens forkhead box I2 (FOXI2), mRNA. 169 epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity 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 large_intestine(1)|lung(3) 4 all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222) CGACGAGGACGACCCAGGTAA 0.662000 19 19 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79412073 79412073 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:79412073C>T uc001diq.4 - 2 367 c.211G>A c.(211-213)Gaa>Aaa p.E71K NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA. 71 EGF-like 2; calcium-binding (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TTAGCATTTTCGCCACAGGAC 0.323000 23 19 0 0 1 0 0 CHMP7 91782 broad.mit.edu 37 8 23115573 23115573 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr8:23115573C>T uc003xdc.2 + 5 1467 c.819C>T c.(817-819)tgC>tgT p.C273C CHMP7_uc011kzs.1_Non-coding_Transcript|CHMP7_uc003xdd.2_Silent_p.C163C|CHMP7_uc003xde.2_Silent_p.C131C NM_152272 NP_689485 Q8WUX9 CHMP7_HUMAN Homo sapiens charged multivesicular body protein 7 (CHMP7), mRNA. 273 cellular membrane organization|late endosome to vacuole transport ESCRT III complex|cytosol protein transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) GCCGGGCATGCCGAGCAGGAA 0.572000 268 5 0 0 1 0 0 SLC39A8 64116 broad.mit.edu 37 4 103228746 103228746 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr4:103228746G>A uc003hwb.1 - 2 928 c.399C>T c.(397-399)ttC>ttT p.F133F SLC39A8_uc011ceo.1_Silent_p.F133F|SLC39A8_uc003hwa.1_Silent_p.F66F|SLC39A8_uc003hwc.2_Silent_p.F133F NM_022154 NP_071437 Q9C0K1 S39A8_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA. 133 integral to membrane|organelle membrane|plasma membrane zinc ion transmembrane transporter activity large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Hepatocellular(203;0.217) all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142) TCACTGACAGGAATCCATATC 0.378000 162 71 0 0 1 0 0 SERPINB3 6317 broad.mit.edu 37 18 61304954 61304954 + Nonstop_Mutation SNP T C C TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr18:61304954T>C uc002ljf.3 - 7 1258 c.1172A>G c.(1171-1173)tAg>tGg p.*391W SERPINB3_uc002lje.3_Nonstop_Mutation_p.*370W|SERPINB3_uc002ljg.3_Nonstop_Mutation_p.*391W NM_002974 NP_002965 P29508 SPB3_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA. 0 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity p.P390Q(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 TAATTGCATCTATGGGGATGA 0.388000 189 117 0 0 1 0 0 CDC42EP4 23580 broad.mit.edu 37 17 71281714 71281714 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:71281714G>A uc002jjn.3 - 1 1073 c.926C>T c.(925-927)tCc>tTc p.S309F CDC42EP4_uc002jjo.3_Missense_Mutation_p.S309F|CDC42EP4_uc002jjp.1_Missense_Mutation_p.S239F|CDC42EP4_uc021ucn.1_Missense_Mutation_p.S309F NM_012121 NP_036253 Q9H3Q1 BORG4_HUMAN Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA. 309 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) GCTGGAGAGGGAGCTGCTGTC 0.706000 68 42 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78290635 78290635 + Missense_Mutation SNP C T T rs117285325 by1000genomes TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr15:78290635C>T uc002bcy.4 - 12 2759 c.2759G>A c.(2758-2760)cGa>cAa p.R920Q TBC1D2B_uc010bla.3_Missense_Mutation_p.D903N NM_144572 NP_653173 Q9UPU7 TBD2B_HUMAN Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA. 920 intracellular Rab GTPase activator activity|protein binding p.D903N(3)|p.R920Q(1) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GTAGGCGCGTCGGTTCCGGAT 0.617000 33 5 0 0 1 0 0 C11orf30 56946 broad.mit.edu 37 11 76261047 76261047 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:76261047G>A uc001oxl.3 + 20 3969 c.3826G>A c.(3826-3828)Gag>Aag p.E1276K C11orf30_uc001oxm.3_Missense_Mutation_p.E1178K|C11orf30_uc010rsb.2_Missense_Mutation_p.E1291K|C11orf30_uc010rsc.2_Missense_Mutation_p.E1277K|C11orf30_uc001oxn.3_Missense_Mutation_p.E1277K|C11orf30_uc010rsd.2_Missense_Mutation_p.E1185K|C11orf30_uc010rse.2_Missense_Mutation_p.E523K|C11orf30_uc001oxp.3_Missense_Mutation_p.E209K NM_020193 NP_064578 Q7Z589 EMSY_HUMAN Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA. 1276 DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 TGTGGTGGTGGAGCCCAGTGG 0.483000 87 71 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 96706593 96706593 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:96706593C>T uc010how.1 + 2 913 c.870C>T c.(868-870)gcC>gcT p.A290A EPHA6_uc003drp.1_Silent_p.A290A NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 195 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CGTGCATTGCCCTGGTTTCAG 0.463000 265 184 0 0 1 0 0 DNM3 26052 broad.mit.edu 37 1 172001604 172001604 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:172001604G>A uc001gie.3 + 4 828 c.652G>A c.(652-654)Gat>Aat p.D218N DNM3_uc001gid.4_Missense_Mutation_p.D218N|DNM3_uc009wwb.2_Missense_Mutation_p.D218N|DNM3_uc001gif.3_Missense_Mutation_p.D218N NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA. 218 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GGATGCCAGGGATGTTCTAGA 0.373000 138 52 0 0 1 0 0 H1FNT 341567 broad.mit.edu 37 12 48723366 48723366 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:48723366G>A uc001rrm.3 + 0 604 c.292G>A c.(292-294)Gaa>Aaa p.E98K NM_181788 NP_861453 Q75WM6 H1FNT_HUMAN Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA. 98 chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation nuclear chromatin ATP binding|DNA binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 13 CGGCCGCCACGAAGCGCCCAG 0.662000 35 20 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40743912 40743912 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr20:40743912C>T uc002xkg.3 - 21 3210 c.3026G>A c.(3025-3027)gGa>gAa p.G1009E PTPRT_uc010ggj.3_Missense_Mutation_p.G1028E|PTPRT_uc010ggi.3_Missense_Mutation_p.G212E NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 1009 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TTTAATGTCTCCGTAGACCTC 0.512000 146 69 0 0 1 0 0 BEND4 389206 broad.mit.edu 37 4 42145664 42145665 + Missense_Mutation DNP CG AA AA TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr4:42145664_42145665CG>AA uc003gwn.3 - 2 1414_1415 c.834_835CG>TT c.(832-837)gacgtg>gaTTtg p.V279L BEND4_uc003gwm.3_Missense_Mutation_p.V279L|BEND4_uc011byy.1_Missense_Mutation_p.V279L NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA. 279 p.L278R(1) NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 AGAGGATCCACGTCGGCCAGAT 0.520000 45 15 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40400157 40400157 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:40400157G>A uc003oph.1 - 1 1161 c.696C>T c.(694-696)gcC>gcT p.A232A NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA. 232 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) ACAAGGGTGGGGCAAAGGGTG 0.597000 120 43 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10351982 10351982 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:10351982G>A uc002gmn.3 - 31 4595 c.4484C>T c.(4483-4485)tCc>tTc p.S1495F AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 1495 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 ATGATCCAGGGATTCCTCGTA 0.438000 142 79 0 0 1 0 0 ZWILCH 55055 broad.mit.edu 37 15 66819689 66819689 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr15:66819689C>T uc002aqb.3 + 8 1127 c.881C>T c.(880-882)tCt>tTt p.S294F RPL4_uc002apx.3_5'Flank|ZWILCH_uc010bhu.1_Missense_Mutation_p.S180F|ZWILCH_uc002aqa.3_Missense_Mutation_p.S180F|ZWILCH_uc010bhv.3_Missense_Mutation_p.S180F NM_017975 NP_060445 Q9H900 ZWILC_HUMAN Homo sapiens Zwilch, kinetochore associated, homolog (Drosophila) (ZWILCH), transcript variant 1, mRNA. 294 cell division|mitotic cell cycle checkpoint|mitotic prometaphase condensed chromosome kinetochore|cytosol protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1) 18 GAAGCAAAATCTGCTGTTGAA 0.363000 71 28 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16032855 16032855 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:16032855C>T uc002nbu.2 - 8 1143 c.1107G>A c.(1105-1107)gaG>gaA p.E369E CYP4F11_uc010eab.1_Silent_p.E369E|CYP4F11_uc002nbt.2_Silent_p.E369E NM_001128932 NP_067010 Q9HBI6 CP4FB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA. 369 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 ACCATTCAATCTCTATAGGTT 0.507000 69 29 0 0 1 0 0 BAIAP3 8938 broad.mit.edu 37 16 1396942 1396942 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr16:1396942C>T uc002clk.2 + 27 3000 c.2842C>T c.(2842-2844)Cat>Tat p.H948Y BAIAP3_uc010uuz.2_Missense_Mutation_p.H913Y|BAIAP3_uc010uva.2_Missense_Mutation_p.H885Y|BAIAP3_uc021tag.1_Missense_Mutation_p.H890Y|BAIAP3_uc002clj.3_Missense_Mutation_p.H930Y|BAIAP3_uc010uvc.1_Missense_Mutation_p.H877Y NM_003933 NP_001186026 O94812 BAIP3_HUMAN Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA. 948 MHD2. G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) CAGCCGCTTCCATTTCACGCT 0.642000 27 13 0 0 1 0 0 ARAP1 116985 broad.mit.edu 37 11 72423537 72423537 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:72423537C>T uc001osu.3 - 5 1013 c.824G>A c.(823-825)gGg>gAg p.G275E ARAP1_uc001osv.3_Missense_Mutation_p.G275E|ARAP1_uc001osr.3_Missense_Mutation_p.G35E|ARAP1_uc001oss.3_Missense_Mutation_p.G30E|ARAP1_uc009yth.3_Missense_Mutation_p.G30E|ARAP1_uc010rre.2_Missense_Mutation_p.G30E NM_001040118 NP_056057 Q96P48 ARAP1_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA. 275 actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction Golgi cisterna membrane|cytosol|plasma membrane ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 TTGGTCGTCCCCAGACAGTTC 0.677000 253 142 0 0 1 0 0 HTR3C 170572 broad.mit.edu 37 3 183776233 183776233 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:183776233G>A uc003fmk.3 + 5 612 c.578G>A c.(577-579)gGc>gAc p.G193D NM_130770 NP_570126 Q8WXA8 5HT3C_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA. 193 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) ATGCTGCTGGGCATGGACAAG 0.587000 54 16 0 0 1 0 0 GLRA3 8001 broad.mit.edu 37 4 175565133 175565133 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr4:175565133G>A uc003ity.1 - 9 1702 c.1199C>T c.(1198-1200)cCa>cTa p.P400L GLRA3_uc003itz.1_Missense_Mutation_p.P385L NM_006529 NP_006520 O75311 GLRA3_HUMAN Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA. 400 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) GGGGCCCTTTGGAGTCATGCC 0.483000 146 88 0 0 1 0 0 PTGDR 5729 broad.mit.edu 37 14 52735302 52735302 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr14:52735302C>T uc001wzq.3 + 0 872 c.770C>T c.(769-771)cCc>cTc p.P257L NM_000953 NP_000944 Q13258 PD2R_HUMAN Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA. 257 integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding p.Q256*(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) TCCCCTCAGCCCCTGGAGGAG 0.677000 210 123 0 0 1 0 0 PRLR 5618 broad.mit.edu 37 5 35068320 35068320 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:35068320C>T uc003jjm.3 - 8 1412 c.853G>A c.(853-855)Gag>Aag p.E285K PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Missense_Mutation_p.E285K|PRLR_uc003jjh.2_Missense_Mutation_p.E285K|PRLR_uc003jji.2_Missense_Mutation_p.E214K|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.E184K|PRLR_uc021xxl.1_Missense_Mutation_p.E285K|PRLR_uc010iuw.1_3'UTR NM_000949 NP_000940 P16471 PRLR_HUMAN Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA. 285 T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GTACTTACCTCCAACAGATGA 0.433000 124 55 0 0 1 0 0 KCNK18 338567 broad.mit.edu 37 10 118957028 118957028 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:118957028G>A uc010qsr.2 + 0 29 c.29G>A c.(28-30)aGg>aAg p.R10K NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA. 10 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) CCCCAGGCCAGGAGATGCTGC 0.632000 104 40 0 0 1 0 0 RNF152 220441 broad.mit.edu 37 18 59483148 59483148 + Silent SNP G A A rs150541292 TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr18:59483148G>A uc002lih.1 - 1 961 c.549C>T c.(547-549)ctC>ctT p.L183L RNF152_uc021ula.1_Silent_p.L183L NM_173557 NP_775828 Q8N8N0 RN152_HUMAN Homo sapiens ring finger protein 152 (RNF152), mRNA. 183 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) GCACGATGCCGAGGAGGAAGA 0.572000 134 77 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47479171 47479171 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:47479171G>A uc003tnw.3 - 5 422 c.64C>T c.(64-66)Cct>Tct p.P22S TNS3_uc010kyo.1_Missense_Mutation_p.P22S NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN Homo sapiens tensin 3 (TNS3), mRNA. 22 Phosphatase tensin-type. focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 CAGCCGGCAGGGAAGGACACA 0.622000 69 19 0 0 1 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276766 71276766 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:71276766C>T uc001oqt.1 + 0 158 c.133C>T c.(133-135)Ccc>Tcc p.P45S NM_001012710 NP_001012728 Q6L8G5 KR510_HUMAN Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA. 45 keratin filament p.P45L(1) endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 CTGCTGTGTGCCCGTCTGCTG 0.687000 495 7 0 0 1 0 0 CLIC5 53405 broad.mit.edu 37 6 45922915 45922915 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:45922915G>A uc003oxv.3 - 1 713 c.607C>T c.(607-609)Ctg>Ttg p.L203L CLIC5_uc003oxu.3_Silent_p.L44L|CLIC5_uc003oxx.3_Silent_p.L44L NM_001114086 NP_001107558 Q9NZA1 CLIC5_HUMAN Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 203 female pregnancy Golgi apparatus|actin cytoskeleton|cell cortex|chloride channel complex|insoluble fraction|microtubule organizing center protein binding|voltage-gated chloride channel activity endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 13 ACTCCTTTCAGCCAGAGGATC 0.483000 101 37 0 0 1 0 0 OR10A5 144124 broad.mit.edu 37 11 6866924 6866924 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:6866924G>A uc001met.1 + 0 11 c.11G>A c.(10-12)gGa>gAa p.G4E NM_178168 NP_835462 Q9H207 O10A5_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA. 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ATGGCTATAGGAAACTGGACA 0.383000 329 99 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167791305 167791305 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:167791305G>A uc001ger.3 - 29 4541 c.4243C>T c.(4243-4245)Cac>Tac p.H1415Y ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.H1262Y|ADCY10_uc009wvk.3_Missense_Mutation_p.H1323Y NM_018417 NP_001161221 Q96PN6 ADCYA_HUMAN Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA. 1415 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction ATP binding|adenylate cyclase activity|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 AGTCCACTGTGGAACTTGAGG 0.393000 51 25 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32010363 32010363 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:32010363G>A uc003nzl.2 - 39 12275 c.12073C>T c.(12073-12075)Ccc>Tcc p.P4025S TNXB_uc003nzg.1_Missense_Mutation_p.P456S|TNXB_uc003nzh.1_Missense_Mutation_p.P494S NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 4072 Fibronectin type-III 32. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CAGTCCCTGGGGAAGGGGATC 0.687000 15 11 0 0 1 0 0 KIAA0195 9772 broad.mit.edu 37 17 73487159 73487159 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:73487159C>T uc010wsa.2 + 10 1380 c.1188C>T c.(1186-1188)ttC>ttT p.F396F KIAA0195_uc002jnz.4_Silent_p.F386F|KIAA0195_uc010wsb.2_Silent_p.F38F NM_014738 NP_055553 Q12767 K0195_HUMAN Homo sapiens KIAA0195 (KIAA0195), mRNA. 386 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GGGGCCACTTCCTGAGGGTGC 0.632000 62 40 0 0 1 0 0 PTCHD4 442213 broad.mit.edu 37 6 47846205 47846205 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:47846205C>T uc011dwm.2 - 2 2409 c.2375G>A c.(2374-2376)gGg>gAg p.G792E PTCHD4_uc011dwn.2_Missense_Mutation_p.G539E NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA. 792 integral to membrane hedgehog receptor activity TGTGCAACCCCCAGTGAGCAG 0.428000 65 35 0 0 1 0 0 FAM82A1 151393 broad.mit.edu 37 2 38179109 38179109 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:38179109C>T uc002rqn.2 + 1 877 c.751C>T c.(751-753)Cct>Tct p.P251S FAM82A1_uc002rqk.1_Intron|FAM82A1_uc002rql.3_Intron|FAM82A1_uc021vga.1_Intron|FAM82A1_uc002rqm.3_Intron NM_144713 NP_653314 Q96LZ7 RMD2_HUMAN Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA. 0 cytoplasm|integral to membrane|microtubule|spindle pole binding endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 13 TTTCCTTCATCCTCGTCCTGA 0.398000 141 65 0 0 1 0 0 ZNF385B 151126 broad.mit.edu 37 2 180634258 180634258 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:180634258C>T uc002unn.4 - 2 829 c.225G>A c.(223-225)caG>caA p.Q75Q NM_152520 NP_001106869 Q569K4 Z385B_HUMAN Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA. 75 nucleus nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) TGGGGCTGGCCTGGGCGGGTG 0.612000 74 29 0 0 1 0 0 TXNDC11 51061 broad.mit.edu 37 16 11782225 11782225 + Missense_Mutation SNP G T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr16:11782225G>T uc010buu.1 - 9 2120 c.2058C>A c.(2056-2058)ttC>ttA p.F686L TXNDC11_uc002dbg.1_Missense_Mutation_p.F659L NM_015914 NP_056998 Q6PKC3 TXD11_HUMAN Homo sapiens thioredoxin domain containing 11 (TXNDC11), mRNA. 686 Thioredoxin 2. cell redox homeostasis endoplasmic reticulum membrane|integral to membrane endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 GCTGAGACGGGAACTGGGCAG 0.398000 107 51 2.43277e-16 2.46182e-16 1 1 0 ZNF488 118738 broad.mit.edu 37 10 48370880 48370880 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:48370880G>A uc001jex.3 + 1 510 c.348G>A c.(346-348)caG>caA p.Q116Q ZNF488_uc021ppx.1_Silent_p.Q116Q NM_153034 NP_694579 Q96MN9 ZN488_HUMAN Homo sapiens zinc finger protein 488 (ZNF488), mRNA. 116 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 TGGATGCTCAGGCCCAGGAGA 0.657000 44 22 0 0 1 0 0 KCNN3 3782 broad.mit.edu 37 1 154794589 154794589 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:154794589G>A uc021pah.1 - 1 1319 c.1005C>T c.(1003-1005)atC>atT p.I335I KCNN3_uc001ffo.3_Silent_p.I30I|KCNN3_uc001ffp.3_Silent_p.I335I|KCNN3_uc009wox.1_Silent_p.I335I NM_001204087 NP_001191016 Q9UGI6 KCNN3_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA. 340 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) TGTGGTAGGCGATGATCAAGC 0.552000 72 24 0 0 1 0 0 NOSTRIN 115677 broad.mit.edu 37 2 169681153 169681153 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:169681153G>A uc002ueg.3 + 2 389 c.123G>A c.(121-123)ctG>ctA p.L41L NOSTRIN_uc002uef.3_Silent_p.L41L|NOSTRIN_uc002ueh.3_5'UTR|NOSTRIN_uc010fpu.3_Intron NM_001039724 NP_443178 Q8IVI9 NOSTN_HUMAN Homo sapiens nitric oxide synthase trafficker (NOSTRIN), transcript variant 2, mRNA. 41 FCH. endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane protein binding p.L41L(1) kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 9 GGGCAAACCTGGAAATTAGCT 0.473000 66 29 0 0 1 0 0 ZC3HAV1L 92092 broad.mit.edu 37 7 138713620 138713620 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:138713620G>A uc003vum.1 - 2 600 c.588C>T c.(586-588)tcC>tcT p.S196S NM_080660 NP_542391 Q96H79 ZCCHL_HUMAN Homo sapiens zinc finger CCCH-type, antiviral 1-like (ZC3HAV1L), mRNA. 196 p.S196Y(1) NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1) 10 CTTTCACAAAGGATTTGCACA 0.448000 65 29 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433345 55433345 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:55433345C>T uc010rik.2 + 0 703 c.703C>T c.(703-705)Ctc>Ttc p.L235F NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA. 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 GCACAAAGCCCTCTCTACCTG 0.502000 154 85 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74540461 74540461 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:74540461G>A uc001dfy.4 - 5 1073 c.881C>T c.(880-882)cCt>cTt p.P294L LRRIQ3_uc001dfz.4_Non-coding_Transcript NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA. 294 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TAAATCAACAGGATAATATAT 0.269000 11 6 0 0 1 0 0 FBLN1 2192 broad.mit.edu 37 22 45996229 45996229 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr22:45996229C>T uc003bgj.1 + 16 2162 c.2015C>T c.(2014-2016)gCc>gTc p.A672V FBLN1_uc003bgk.1_Non-coding_Transcript NM_006486 NP_006477 P23142 FBLN1_HUMAN Homo sapiens fibulin 1 (FBLN1), transcript variant D, mRNA. 672 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CCATTTCATGCCGTCCTGAAG 0.572000 581 7 0 0 1 0 0 NSUN5 55695 broad.mit.edu 37 7 72718281 72718281 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:72718281G>A uc003txw.3 - 6 957 c.880C>T c.(880-882)Cca>Tca p.P294S FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Missense_Mutation_p.P294S|NSUN5_uc003txv.3_Missense_Mutation_p.P294S|NSUN5_uc003txx.3_Missense_Mutation_p.P256S NM_018044 NP_060514 Q96P11 NSUN5_HUMAN Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA. 294 methyltransferase activity breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 Lung NSC(55;0.163) TGGTAGCGTGGATCCGAGGGG 0.642000 47 63 0 0 1 0 0 NPR3 4883 broad.mit.edu 37 5 32774874 32774874 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:32774874G>A uc003jhv.3 + 3 1565 c.1120G>A c.(1120-1122)Gaa>Aaa p.E374K NPR3_uc010iuo.3_Missense_Mutation_p.E158K|NPR3_uc003jhw.2_Missense_Mutation_p.E158K|NPR3_uc003jhu.3_Missense_Mutation_p.E374K NM_001204375 NP_001191304 P17342 ANPRC_HUMAN Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA. 374 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) GGCTCTACATGAAGTACTCAG 0.433000 238 101 0 0 1 0 0 KIF27 55582 broad.mit.edu 37 9 86482649 86482649 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:86482649G>A uc004ana.3 - 12 3028 c.2884C>T c.(2884-2886)Ctg>Ttg p.L962L KIF27_uc010mpw.3_Silent_p.L896L|KIF27_uc010mpx.3_Intron NM_017576 NP_060046 Q86VH2 KIF27_HUMAN Homo sapiens kinesin family member 27 (KIF27), mRNA. 962 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 TCCTGTAACAGAGCCTCCTTC 0.408000 86 46 0 0 1 0 0 OSBPL3 26031 broad.mit.edu 37 7 24843936 24843936 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:24843936G>A uc003sxf.3 - 21 2970 c.2565C>T c.(2563-2565)ttC>ttT p.F855F OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Silent_p.F819F|OSBPL3_uc003sxh.3_Silent_p.F824F|OSBPL3_uc003sxi.3_Silent_p.F788F NM_015550 NP_056365 Q9H4L5 OSBL3_HUMAN Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA. 855 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 GCACGAACCTGAAAAACCGAG 0.463000 175 96 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110477365 110477365 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr8:110477365G>A uc003yne.3 + 48 8408 c.8304G>A c.(8302-8304)ggG>ggA p.G2768G NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 2768 immune response cytosol|extracellular space|integral to membrane receptor activity p.G2770G(3) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ACAGATGTGGGGGTTGGAGTG 0.463000 HNSCC(38;0.096) 107 70 0 0 1 0 0 USH1C 10083 broad.mit.edu 37 11 17547909 17547909 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:17547909C>T uc001mnf.3 - 7 768 c.659G>A c.(658-660)cGa>cAa p.R220Q USH1C_uc001mne.3_Missense_Mutation_p.R220Q|USH1C_uc009yhb.3_Missense_Mutation_p.R220Q|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.R184Q NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA. 220 PDZ 2. G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 GCCAAGGCCTCGGGAGCCTAC 0.617000 71 20 0 0 1 0 0 KRTAP4-5 85289 broad.mit.edu 37 17 39305619 39305619 + Missense_Mutation SNP G T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:39305619G>T uc002hwb.3 - 0 436 c.401C>A c.(400-402)tCt>tAt p.S134Y NM_033188 NP_149445 Q9BYR2 KRA45_HUMAN Homo sapiens keratin associated protein 4-5 (KRTAP4-5), mRNA. 139 27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC]. keratin filament p.S134Y(4) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ttcacagcaagaggggtggca 0.637000 85 4 0.00909568 0.00916326 1 1 0 CTNNA1 1495 broad.mit.edu 37 5 138266243 138266243 + Missense_Mutation SNP C A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:138266243C>A uc003ldh.3 + 14 2187 c.2092C>A c.(2092-2094)Ctg>Atg p.L698M CTNNA1_uc011cyx.2_Missense_Mutation_p.L595M|CTNNA1_uc011cyy.2_Missense_Mutation_p.L575M|CTNNA1_uc003ldi.3_Missense_Mutation_p.L396M|CTNNA1_uc003ldj.3_Missense_Mutation_p.L698M|CTNNA1_uc003ldl.3_Missense_Mutation_p.L328M NM_001903 NP_001894 P35221 CTNA1_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA. 698 adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 52 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AAAGAGCAAGCTGGATGCTGA 0.502000 288 5 0.217242 0.218208 1 1 0 NF1 4763 broad.mit.edu 37 17 29509639 29509639 + Nonsense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:29509639C>T uc002hgg.3 + 7 1227 c.844C>T c.(844-846)Cag>Tag p.Q282* NF1_uc002hge.2_Nonsense_Mutation_p.Q282*|NF1_uc002hgf.2_Nonsense_Mutation_p.Q282*|NF1_uc002hgh.3_Nonsense_Mutation_p.Q282*|NF1_uc010csn.2_Nonsense_Mutation_p.Q142* NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 282 MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(4)|p.Q282Q(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AGAAATAATCCAGGATATATC 0.368000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 28 9 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156917706 156917706 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:156917706G>A uc001fqo.3 - 23 3116 c.2076C>T c.(2074-2076)ctC>ctT p.L692L ARHGEF11_uc010phu.2_Silent_p.L108L|ARHGEF11_uc001fqn.3_Silent_p.L732L NM_014784 NP_055599 O15085 ARHGB_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA. 692 G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction Golgi apparatus|cytosol|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGTGGGGAAGGAGGGTATCTG 0.552000 36 15 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55139714 55139714 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr4:55139714G>A uc003han.4 + 9 1706 c.1375G>A c.(1375-1377)Gaa>Aaa p.E459K PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.E353K|PDGFRA_uc003ham.2_Non-coding_Transcript NM_006206 NP_006197 P16234 PGFRA_HUMAN Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA. 459 Ig-like C2-type 5. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.E459K(2) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) ATGTAATAATGAAACTTCCTG 0.488000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 84 43 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T G G TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr8:41790659T>G uc010lxb.3 - 17 5623 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_uc010lxc.3_Silent_p.P1693P|KAT6A_uc003xon.4_Silent_p.P1693P NM_001099412 NP_006757 Q92794 MYST3_HUMAN Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA. 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ggggagggggtgggggtggag 0.627000 27 7 0 0 1 0 0 DNTT 1791 broad.mit.edu 37 10 98088483 98088483 + Splice_Site SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:98088483G>A uc001kmf.3 + 8 1178 c.1008_splice c.e8-1 p.R336_splice DNTT_uc001kmg.3_Splice_Site_p.R336_splice NM_004088 NP_004079 P04053 TDT_HUMAN Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA. 336 Involved in ssDNA binding (By similarity).|Mediates interaction with DNTTIP2. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) GAAAATTAGGGGTAAGAAGAT 0.328000 85 34 0 0 1 0 0 VCL 7414 broad.mit.edu 37 10 75868811 75868811 + Missense_Mutation SNP A G G TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:75868811A>G uc001jwd.3 + 17 2736 c.2642A>G c.(2641-2643)aAg>aGg p.K881R VCL_uc009xrr.3_Missense_Mutation_p.K630R|VCL_uc010qky.1_Missense_Mutation_p.K788R|VCL_uc001jwe.3_Missense_Mutation_p.K881R|VCL_uc010qkz.2_Missense_Mutation_p.K142R NM_014000 NP_054706 P18206 VINC_HUMAN Homo sapiens vinculin (VCL), transcript variant 1, mRNA. 881 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) CCAGAGGAAAAGGATGAAGAG 0.527000 119 4 0 0 1 0 0 OR4D10 390197 broad.mit.edu 37 11 59245135 59245135 + Missense_Mutation SNP T G G TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:59245135T>G uc001nnz.1 + 0 233 c.233T>G c.(232-234)gTg>gGg p.V78G NM_001004705 NP_001004705 Q8NGI6 OR4DA_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA. 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCCATCACAGTGCCCAAGGTT 0.438000 170 85 0 0 1 0 0 TTC13 79573 broad.mit.edu 37 1 231076203 231076203 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:231076203G>A uc001huf.4 - 6 814 c.772C>T c.(772-774)Ctg>Ttg p.L258L TTC13_uc001hug.4_Silent_p.L205L|TTC13_uc009xfj.3_Non-coding_Transcript|TTC13_uc009xfk.2_Silent_p.L148L NM_024525 NP_078801 Q8NBP0 TTC13_HUMAN Homo sapiens tetratricopeptide repeat domain 13 (TTC13), transcript variant 1, mRNA. 258 binding central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) ATGAAGTACAGGGTTCCCCGA 0.433000 60 40 0 0 1 0 0 ANKRD6 22881 broad.mit.edu 37 6 90337353 90337353 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:90337353G>A uc003pni.4 + 13 1764 c.1423G>A c.(1423-1425)Gag>Aag p.E475K ANKRD6_uc003pne.4_Missense_Mutation_p.E475K|ANKRD6_uc003pnf.4_Missense_Mutation_p.E440K|ANKRD6_uc011dzy.2_Missense_Mutation_p.E475K|ANKRD6_uc010kcd.3_Missense_Mutation_p.E416K|LYRM2_uc010kce.2_Intron|LYRM2_uc003png.3_Intron|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.4_Missense_Mutation_p.E71K NM_001242809 NP_001229738 Q9Y2G4 ANKR6_HUMAN Homo sapiens ankyrin repeat domain 6 (ANKRD6), transcript variant 1, mRNA. 475 protein binding NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2) 21 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) AGAGAGGACGGAGTGCCTGAA 0.502000 59 26 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40357546 40357546 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:40357546G>A uc002omp.4 - 33 15775 c.15767C>T c.(15766-15768)cCt>cTt p.P5256L NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 5256 VWFD 13. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ATAGACACCAGGAGAGGTGGT 0.602000 85 25 0 0 1 0 0 PDE4B 5142 broad.mit.edu 37 1 66713161 66713161 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:66713161C>T uc001dcn.3 + 3 491 c.300C>T c.(298-300)ggC>ggT p.G100G PDE4B_uc009war.3_Silent_p.G8G|PDE4B_uc001dco.3_Silent_p.G100G|PDE4B_uc001dcp.3_Silent_p.G85G NM_001037341 NP_002591 Q07343 PDE4B_HUMAN Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA. 100 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) TGGAAAATGGCCCTTCCCCAG 0.542000 597 6 0 0 1 0 0 MARCH11 441061 broad.mit.edu 37 5 16091129 16091129 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:16091129G>A uc003jfo.2 - 2 968 c.755C>T c.(754-756)tCc>tTc p.S252F MARCH11_uc010itw.1_Missense_Mutation_p.S8F NM_001102562 NP_001096032 A6NNE9 MARHB_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 11 (MARCH11), mRNA. 252 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 TAAGAACAGGGATCCTAGGAT 0.453000 15 6 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31434771 31434771 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr16:31434771C>T uc010cap.1 + 24 3010 c.2961C>T c.(2959-2961)gcC>gcT p.A987A ITGAD_uc002ebv.1_Silent_p.A986A NM_005353 NP_005344 Q13349 ITAD_HUMAN Homo sapiens integrin, alpha D (ITGAD), mRNA. 986 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TCATGGAGGCCCCATCTCAGG 0.542000 96 50 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55533867 55533867 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr8:55533867C>T uc003xsd.1 + 1 489 c.341C>T c.(340-342)cCt>cTt p.P114L RP1_uc011ldy.1_Missense_Mutation_p.P114L NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 114 Doublecortin 1. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AAGGTGCAGCCTGTAGACCTG 0.692000 150 78 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52356755 52356755 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:52356755C>T uc011bef.2 + 1 558 c.297C>T c.(295-297)tcC>tcT p.S99S DNAH1_uc003ddt.1_Silent_p.S99S NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 99 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GGTTCTACTCCGACATCCTCA 0.587000 14 7 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70897897 70897897 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:70897897G>A uc003pfc.1 + 46 3092 c.2975G>A c.(2974-2976)gGa>gAa p.G992E NM_001858 NP_001849 Q14993 COJA1_HUMAN Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA. 992 Triple-helical region 5 (COL5). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 GGCTCCATGGGATCCCCTGGC 0.597000 51 31 0 0 1 0 0 ITGB7 3695 broad.mit.edu 37 12 53587064 53587064 + Missense_Mutation SNP G T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:53587064G>T uc009zmv.3 - 10 1657 c.1586C>A c.(1585-1587)gCt>gAt p.A529D ITGB7_uc001scc.3_Missense_Mutation_p.A529D|ITGB7_uc010snz.2_Intron NM_000889 NP_000880 P26010 ITB7_HUMAN Homo sapiens integrin, beta 7 (ITGB7), mRNA. 529 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCCATTGGGAGCCCGGCACCC 0.632000 69 4 1 1 1 1 0 PRIM2 5558 broad.mit.edu 37 6 57246872 57246872 + Missense_Mutation SNP T A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:57246872T>A uc003pdx.3 + 6 686 c.599T>A c.(598-600)gTc>gAc p.V200D PRIM2_uc003pdw.3_Missense_Mutation_p.V200D NM_000947 NP_000938 P49643 PRI2_HUMAN Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA. 200 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) GGAAGGAAAGTCTATTTGGAA 0.403000 63 20 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146488 70146488 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr4:70146488C>T uc003hej.3 + 0 272 c.270C>T c.(268-270)atC>atT p.I90I UGT2B28_uc010ihr.3_Silent_p.I90I NM_053039 NP_444267 Q9BY64 UDB28_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA. 90 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) AGAATATCATCATGCAACAGG 0.328000 175 92 0 0 1 0 0 MYO1C 4641 broad.mit.edu 37 17 1370616 1370616 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:1370616G>A uc002fsp.3 - 30 3305 c.3085C>T c.(3085-3087)Ccc>Tcc p.P1029S MYO1C_uc002fsn.3_Missense_Mutation_p.P1010S|MYO1C_uc002fso.3_Missense_Mutation_p.P994S NM_001080779 NP_203693 O00159 MYO1C_HUMAN Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA. 1029 mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane ATP binding|actin binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TCCCTGCCGGGGCCCCCTGCA 0.647000 54 4 0 0 1 0 0 CEP104 9731 broad.mit.edu 37 1 3732062 3732062 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:3732062G>A uc001aky.2 - 21 3041 c.2682C>T c.(2680-2682)gcC>gcT p.A894A CEP104_uc010nzm.1_Non-coding_Transcript NM_014704 NP_055519 O60308 CE104_HUMAN Homo sapiens centrosomal protein 104kDa (CEP104), mRNA. 894 centriole binding breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 GGCCTGATGCGGCCACAGCTG 0.637000 37 18 0 0 1 0 0 AMOTL2 51421 broad.mit.edu 37 3 134089703 134089703 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:134089703C>T uc003eqf.2 - 1 864 c.747G>A c.(745-747)caG>caA p.Q249Q AMOTL2_uc003eqg.1_Silent_p.Q191Q|AMOTL2_uc003eqh.1_Silent_p.Q191Q NM_016201 NP_057285 Q9Y2J4 AMOL2_HUMAN Homo sapiens angiomotin like 2 (AMOTL2), mRNA. 191 endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 19 GGGGGCCCTGCTGGTTGCGGG 0.662000 164 4 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276474 186276474 + Silent SNP T C C TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:186276474T>C uc001gru.4 + 6 1674 c.1623T>C c.(1621-1623)acT>acC p.T541T MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.T500T|PRG4_uc009wyl.3_Silent_p.T448T|PRG4_uc009wym.3_Silent_p.T407T|PRG4_uc010poo.2_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA. 541 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACTACCAAGTCTG 0.637000 213 11 0 0 1 0 0 FASTKD3 79072 broad.mit.edu 37 5 7866981 7866981 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:7866981G>A uc003jeb.3 - 1 1388 c.1216C>T c.(1216-1218)Cgt>Tgt p.R406C FASTKD3_uc011cmp.2_Missense_Mutation_p.R108C|FASTKD3_uc003jec.3_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jed.3_5'Flank|MTRR_uc003jee.4_5'Flank|MTRR_uc003jef.4_5'Flank|MTRR_uc003jeg.4_5'Flank|MTRR_uc010ito.3_5'Flank NM_024091 NP_076996 Q14CZ7 FAKD3_HUMAN Homo sapiens FAST kinase domains 3 (FASTKD3), transcript variant 1, mRNA. 406 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity p.P405R(1) breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GAAATCTGACGAGGTGAAAAT 0.403000 79 34 0 0 1 0 0 YSK4 80122 broad.mit.edu 37 2 135738894 135738894 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:135738894G>A uc002tue.1 - 8 3448 c.3417C>T c.(3415-3417)ttC>ttT p.F1139F YSK4_uc002tuf.1_Silent_p.F321F|YSK4_uc010fnc.1_Silent_p.F273F|YSK4_uc010fnd.1_Silent_p.F1026F|YSK4_uc010zbg.1_Silent_p.F271F|YSK4_uc021vpz.1_5'UTR|YSK4_uc002tuh.4_Silent_p.F867F|YSK4_uc002tui.4_3'UTR NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA. 1139 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(221;0.112) CAAACTCCATGAAAATGCTCA 0.408000 134 82 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A G G TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:20414343A>G uc003zoe.2 - 4 760 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.3_5'UTR NM_004529 NP_004520 P42568 AF9_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA. 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(38)|p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 98 16 0 0 1 0 0 OR1L3 26735 broad.mit.edu 37 9 125437720 125437720 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:125437720C>T uc011lzb.2 + 0 312 c.312C>T c.(310-312)ttC>ttT p.F104F NM_001005234 NP_001005234 Q8NH93 OR1L3_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA. 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 TGTATTTCTTCCTGGTTTTTG 0.418000 188 107 0 0 1 0 0 MEGF11 84465 broad.mit.edu 37 15 66273119 66273119 + Nonsense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr15:66273119C>T uc002apm.2 - 6 900 c.759G>A c.(757-759)tgG>tgA p.W253* MEGF11_uc002apl.2_Nonsense_Mutation_p.W178*|MEGF11_uc002apn.1_Nonsense_Mutation_p.W253* NM_032445 NP_115821 A6BM72 MEG11_HUMAN Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA. 253 EGF-like 4. basolateral plasma membrane|integral to membrane breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 19 CACTTACCGTCCAGCCTGGGG 0.612000 20 6 0 0 1 0 0 MYO10 4651 broad.mit.edu 37 5 16672917 16672917 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:16672917G>A uc003jft.4 - 36 5658 c.5190C>T c.(5188-5190)atC>atT p.I1730I MYO10_uc011cnb.2_Silent_p.I359I|MYO10_uc011cnc.2_Silent_p.I609I|MYO10_uc011cnd.2_Silent_p.I1087I|MYO10_uc011cne.2_Silent_p.I1087I|MYO10_uc010itx.3_Silent_p.I1352I NM_012334 NP_036466 Q9HD67 MYO10_HUMAN Homo sapiens myosin X (MYO10), mRNA. 1730 FERM. axon guidance|signal transduction myosin complex ATP binding|actin binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 CCAGGCCTCGGATCAGCTTCT 0.557000 29 20 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20497986 20497986 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr16:20497986G>A uc010bwe.3 + 14 1959 c.1720G>A c.(1720-1722)Gcc>Acc p.A574T ACSM2A_uc002dhf.4_Missense_Mutation_p.A574T|ACSM2A_uc002dhg.4_Missense_Mutation_p.A574T|ACSM2A_uc010vay.2_Missense_Mutation_p.A495T|ACSM2A_uc002dhh.4_Missense_Mutation_p.A204T|AX747287_uc002dhi.1_5'Flank NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA. 574 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 GTCCGGAAAAGCCCGTGCGCA 0.458000 217 121 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121739511 121739511 + Silent SNP G A A rs149915358 byFrequency TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:121739511G>A uc003ksw.1 + 2 287 c.81G>A c.(79-81)acG>acA p.T27T SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.3_Silent_p.T27T|SNCAIP_uc003ksy.1_Missense_Mutation_p.R12Q|SNCAIP_uc003ksx.1_Silent_p.T74T|SNCAIP_uc003ksz.1_Missense_Mutation_p.R12Q|SNCAIP_uc010jcu.2_Missense_Mutation_p.R12Q|SNCAIP_uc011cwm.1_Missense_Mutation_p.R12Q|SNCAIP_uc003kta.1_Missense_Mutation_p.R10Q|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.R12Q|SNCAIP_uc010jcx.1_Silent_p.T27T NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 27 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CACTCAAGACGATCCCAGAAC 0.453000 192 90 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119859 38119859 + Silent SNP C T T rs66505048 TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr22:38119859C>T uc003atr.3 + 6 1567 c.1296C>T c.(1294-1296)tgC>tgT p.C432C TRIOBP_uc003atu.3_Silent_p.C260C|TRIOBP_uc003atq.1_Silent_p.C432C|TRIOBP_uc003ats.1_Silent_p.C260C NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA. 432 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C432C(6) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGCGCCCAGCGGG 0.582000 217 5 0 0 1 0 0 SLC22A6 9356 broad.mit.edu 37 11 62744846 62744846 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:62744846C>T uc001nwk.3 - 8 1708 c.1375G>A c.(1375-1377)Gga>Aga p.G459R SLC22A6_uc001nwl.3_Intron|SLC22A6_uc001nwj.3_Missense_Mutation_p.G459R|SLC22A6_uc001nwm.3_Intron NM_004790 NP_004781 Q4U2R8 S22A6_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA. 459 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding p.G459*(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CTGCCCATTCCCATGCCTGTC 0.612000 28 13 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G A A rs121913499 TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:209113113G>A uc002vcs.3 - 3 640 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C NM_005896 NP_005887 O75874 IDHC_HUMAN Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA. 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle cytosol|peroxisomal matrix NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 64 39 0 0 1 0 0 MEGF6 1953 broad.mit.edu 37 1 3415825 3415825 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:3415825G>A uc001akl.3 - 23 3198 c.2971C>T c.(2971-2973)Cca>Tca p.P991S MEGF6_uc001akk.3_Intron NM_001409 NP_001400 O75095 MEGF6_HUMAN Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA. 991 extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GTGTGGGCTGGGCAGGCTGCA 0.682000 17 13 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248020615 248020615 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:248020615C>T uc001ido.3 + 0 115 c.67C>T c.(67-69)Ctg>Ttg p.L23L NM_015431 NP_056246 Q8NG06 TRI58_HUMAN Homo sapiens tripartite motif containing 58 (TRIM58), mRNA. 23 intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCTGGATTTCCTGCAGGAGCC 0.736000 17 8 0 0 1 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45501783 45501783 + Nonsense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:45501783G>A uc001cnd.2 - 8 2311 c.2083C>T c.(2083-2085)Caa>Taa p.Q695* NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA. 695 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) TCTTGGAGTTGGCTCAGGAGC 0.512000 82 55 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106757686 106757686 + RNA SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr14:106757686G>A uc021ser.1 - 749 c.19692C>T Parts of antibodies, mostly variable regions. TGTCCACAGGGTCCATGTTGG 0.527000 226 108 0 0 1 0 0 LOC646214 646214 broad.mit.edu 37 15 21938140 21938140 + RNA SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr15:21938140G>A uc010tzj.1 - 0 c.2600C>T Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA. TCAGAAATATGAAATGGCCCC 0.542000 395 19 0 0 1 0 0 FAM22F 54754 broad.mit.edu 37 9 97081981 97081981 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:97081981C>T uc004aup.1 - 5 1420 c.1399G>A c.(1399-1401)Gaa>Aaa p.E467K NM_017561 NP_060031 A1L443 FA22F_HUMAN Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA. 467 central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1) 19 Acute lymphoblastic leukemia(62;0.136) AGCAATTCTTCCAGGAATCGG 0.577000 186 113 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142626200 142626200 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:142626200G>A uc003wby.1 - 4 767 c.503C>T c.(502-504)tCc>tTc p.S168F TRPV5_uc003wbz.3_Missense_Mutation_p.S168F NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA. 168 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) GGCAGCAAAGGACAAAGGGTG 0.602000 49 17 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207170120 207170120 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:207170120G>A uc002vbp.2 + 4 1118 c.868G>A c.(868-870)Gaa>Aaa p.E290K NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA. 290 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 GAAATTCCATGAACGCATGGG 0.358000 33 19 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161162403 161162403 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:161162403C>T uc003qtm.4 + 16 2191 c.2079C>T c.(2077-2079)gtC>gtT p.V693V NM_000301 NP_000292 P00747 PLMN_HUMAN Homo sapiens plasminogen (PLG), transcript variant 1, mRNA. 693 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) ATTATGTGGTCGCTGACCGGA 0.473000 104 58 0 0 1 0 0 ILF2 3608 broad.mit.edu 37 1 153643478 153643478 + Splice_Site SNP C A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:153643478C>A uc001fcr.3 - 1 1 c.-80_splice c.e1-1 ILF2_uc010pdy.2_Splice_Site|ILF2_uc009wol.1_Splice_Site|TRNA_Met_uc021paa.1_5'Flank NM_004515 NP_004506 Q12905 ILF2_HUMAN Homo sapiens interleukin enhancer binding factor 2, 45kDa (ILF2), mRNA. immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|ribonucleoprotein complex ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity cervix(1)|kidney(1)|lung(4)|skin(1) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) AGGCGTCTTGCCGGCGTGTCC 0.537000 177 92 6.20368e-34 6.32496e-34 1 1 0 NGF 4803 broad.mit.edu 37 1 115829023 115829023 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:115829023C>T uc021osd.1 - 0 394 c.394G>A c.(394-396)Gaa>Aaa p.E132K NGF_uc001efu.1_Missense_Mutation_p.E132K NM_002506 NP_002497 P01138 NGF_HUMAN Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA. 132 Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling Golgi lumen|endosome growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) ACCGAGAATTCGCCCCTGTGG 0.567000 63 34 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325380 150325380 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:150325380G>A uc022apv.1 - 2 996 c.516C>T c.(514-516)ccC>ccT p.P172P GIMAP6_uc003whn.3_Silent_p.P102P|GIMAP6_uc003whm.3_Intron NM_001244072 NP_001231001 Q6P9H5 GIMA6_HUMAN Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA. 102 GTP binding p.G171S(1) endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCGAGACCTGGGGGGACAGAA 0.622000 111 123 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53678753 53678753 + Missense_Mutation SNP C A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:53678753C>A uc010eqm.1 - 2 187 c.87G>T c.(85-87)caG>caT p.Q29H NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN Homo sapiens zinc finger protein 665 (ZNF665), mRNA. 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q29H(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) ACAAAGTCTTCTGAGCAGGGT 0.458000 212 101 7.17885e-55 7.35236e-55 1 1 0 STEAP3 55240 broad.mit.edu 37 2 120005612 120005612 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:120005612C>T uc002tlp.3 + 3 1007 c.850C>T c.(850-852)Cgc>Tgc p.R284C STEAP3_uc002tlq.3_Missense_Mutation_p.R294C|STEAP3_uc002tlr.3_Missense_Mutation_p.R284C|STEAP3_uc010fle.3_Missense_Mutation_p.R284C NM_018234 NP_060704 Q658P3 STEA3_HUMAN Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA. 284 Ferric oxidoreductase. apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 17 GCAGCTGCGGCGCGGCACCAA 0.682000 116 4 0 0 1 0 0 OR2D2 120776 broad.mit.edu 37 11 6913306 6913306 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:6913306G>A uc010rau.2 - 0 426 c.426C>T c.(424-426)gtC>gtT p.V142V NM_003700 NP_003691 Q9H210 OR2D2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA. 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TTGCCAGCTGGACACACACTT 0.517000 107 107 0 0 1 0 0 SLC22A14 9389 broad.mit.edu 37 3 38348792 38348792 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:38348792C>T uc003cib.2 + 1 637 c.564C>T c.(562-564)atC>atT p.I188I SLC22A14_uc010hhc.1_Silent_p.I188I|SLC22A14_uc003cia.2_Silent_p.I188I|SLC22A14_uc011ayo.1_Non-coding_Transcript NM_004803 NP_004794 Q9Y267 S22AE_HUMAN Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA. 188 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) CTGCACAGATCATGTTCATGG 0.552000 170 89 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13724870 13724870 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:13724870G>A uc001rbt.2 - 9 2218 c.2039C>T c.(2038-2040)cCt>cTt p.P680L NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 680 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding p.P679P(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AAAGCGGAAAGGGGGTGAGAA 0.483000 33 19 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681602 100681602 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:100681602C>T uc003uxp.1 + 2 6958 c.6905C>T c.(6904-6906)aCt>aTt p.T2302I MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 2302 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CTTTCAACAACTCCTGTTGAC 0.473000 832 8 0 0 1 0 0 HAS3 3038 broad.mit.edu 37 16 69143610 69143610 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr16:69143610C>T uc010cfh.3 + 1 536 c.312C>T c.(310-312)tgC>tgT p.C104C HAS3_uc002ewk.3_Silent_p.C104C|HAS3_uc010vlk.1_Silent_p.C104C|HAS3_uc002ewl.3_Silent_p.C104C NM_001199280 NP_001186209 O00219 HAS3_HUMAN Homo sapiens hyaluronan synthase 3 (HAS3), transcript variant 3, mRNA. 104 carbohydrate metabolic process integral to plasma membrane hyaluronan synthase activity 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) TGCGCAAGTGCCTGCGCTCGG 0.662000 66 39 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 67680104 67680104 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:67680104C>T uc009xpn.1 - 17 2795 c.2672G>A c.(2671-2673)gGa>gAa p.G891E CTNNA3_uc001jmw.2_Missense_Mutation_p.G891E NM_001127384 NP_037398 Q9UI47 CTNA3_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA. 891 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 GATTTGTCTTCCTCTAAATTC 0.378000 102 40 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26683016 26683016 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:26683016G>A uc002rhk.3 - 45 5998 c.5871C>T c.(5869-5871)ttC>ttT p.F1957F OTOF_uc010yla.2_Intron|OTOF_uc002rhh.3_Silent_p.F1190F|OTOF_uc002rhi.3_Silent_p.F1267F|OTOF_uc002rhj.3_Intron NM_194248 NP_919224 Q9HC10 OTOF_HUMAN Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA. 1957 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTGCCACAAGAAGTAGCGAG 0.602000 16 7 0 0 1 0 0 NR2F2 7026 broad.mit.edu 37 15 96877421 96877421 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr15:96877421C>T uc010uri.2 + 1 1783 c.559C>T c.(559-561)Cgc>Tgc p.R187C NR2F2_uc002btp.3_Missense_Mutation_p.R54C|NR2F2_uc010urj.2_Missense_Mutation_p.R34C|NR2F2_uc010urk.2_Missense_Mutation_p.R34C NM_021005 NP_001138629 P24468 COT2_HUMAN Homo sapiens nuclear receptor subfamily 2, group F, member 2 (NR2F2), transcript variant 1, mRNA. 187 Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity). lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment nucleus ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1) 17 Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297) OV - Ovarian serous cystadenocarcinoma(32;0.0856) CCTGCTGTTGCGCGCGGAGCC 0.617000 574 6 0 0 1 0 0 LTB4R2 56413 broad.mit.edu 37 14 24779948 24779948 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr14:24779948C>T uc021rrp.1 + 0 78 c.78C>T c.(76-78)ttC>ttT p.F26F CIDEB_uc001won.3_5'Flank|CIDEB_uc001woo.3_5'UTR|CIDEB_uc001wop.3_5'UTR|LTB4R2_uc010alo.3_Silent_p.F26F|LTB4R2_uc001wor.3_Silent_p.F26F|LTB4R_uc001wos.3_5'Flank|LTB4R_uc010alp.3_5'Flank NM_019839 NP_062813 Q9NPC1 LT4R2_HUMAN Homo sapiens leukotriene B4 receptor 2 (LTB4R2), transcript variant 1, mRNA. 57 chemotaxis|negative regulation of adenylate cyclase activity integral to plasma membrane endometrium(1)|lung(1)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.018) GCACAGCCTTCCTGCTGCTGG 0.701000 109 53 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 142567932 142567932 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:142567932C>T uc002tvj.1 - 1 1093 c.121G>A c.(121-123)Gat>Aat p.D41N LRP1B_uc010fnl.1_Missense_Mutation_p.D78N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 41 LDL-receptor class A 1. 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) GTCACGTGATCGTGGCAAAGA 0.448000 TSP Lung(27;0.18) 39 33 0 0 1 0 0 RFX3 5991 broad.mit.edu 37 9 3275553 3275553 + Missense_Mutation SNP T C C TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:3275553T>C uc003zhr.3 - 9 1345 c.1033A>G c.(1033-1035)Act>Gct p.T345A RFX3_uc010mhd.3_Missense_Mutation_p.T345A|RFX3_uc003zhs.1_Missense_Mutation_p.T345A|RFX3_uc003zht.1_Missense_Mutation_p.T345A|RFX3_uc010mhe.1_Missense_Mutation_p.T320A NM_134428 NP_602304 P48380 RFX3_HUMAN Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA. 345 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) TCAAAGGTAGTACCATCTGGC 0.413000 25 60 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7651553 7651553 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:7651553C>T uc001qsz.3 - 3 817 c.689G>A c.(688-690)gGa>gAa p.G230E CD163_uc001qta.3_Missense_Mutation_p.G230E|CD163_uc009zfw.2_Missense_Mutation_p.G230E NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 230 SRCR 2. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity p.N229K(1) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TGACTCATTTCCGTTGCATAT 0.433000 209 108 0 0 1 0 0 OR51V1 283111 broad.mit.edu 37 11 5221246 5221246 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:5221246G>A uc010qyz.2 - 0 685 c.685C>T c.(685-687)Ctg>Ttg p.L229L NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA. 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTAAGAATCAGGATGTAGGAG 0.433000 76 106 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61898843 61898843 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:61898843C>T uc001jky.3 - 23 2955 c.2617G>A c.(2617-2619)Gaa>Aaa p.E873K ANK3_uc001jkw.3_Missense_Mutation_p.E7K|ANK3_uc009xpa.3_Missense_Mutation_p.E7K|ANK3_uc001jkx.3_Missense_Mutation_p.E51K|ANK3_uc010qih.2_Missense_Mutation_p.E874K|ANK3_uc001jkz.4_Missense_Mutation_p.E867K|ANK3_uc001jlb.1_Missense_Mutation_p.E381K|ANK3_uc001jlc.1_Missense_Mutation_p.E513K NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 873 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ATTGCATCTTCACCTGCAGAT 0.473000 183 84 0 0 1 0 0 GPATCH3 63906 broad.mit.edu 37 1 27224028 27224028 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:27224028G>A uc001bne.3 - 1 669 c.640C>T c.(640-642)Cgg>Tgg p.R214W BC016143_uc021ojq.1_Intron|GPATCH3_uc009vsp.2_Missense_Mutation_p.R25W NM_022078 NP_071361 Q96I76 GPTC3_HUMAN Homo sapiens G patch domain containing 3 (GPATCH3), mRNA. 214 intracellular nucleic acid binding endometrium(2)|large_intestine(1)|lung(11)|skin(1) 15 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) GTGATGATCCGAGGGGGTAGG 0.607000 145 86 0 0 1 0 0 TEX2 55852 broad.mit.edu 37 17 62265793 62265793 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:62265793G>A uc002jed.3 - 4 2331 c.2180C>T c.(2179-2181)cCc>cTc p.P727L TEX2_uc002jec.3_Intron|TEX2_uc002jee.3_Intron NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN Homo sapiens testis expressed 2 (TEX2), mRNA. 724 PGLLP -> LRAFA (in Ref. 2; CAH10519). signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) CAAGAAGACGGGGGCTATTCA 0.493000 66 35 0 0 1 0 0 PTCHD4 442213 broad.mit.edu 37 6 47847335 47847335 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:47847335C>T uc011dwm.2 - 2 1279 c.1245G>A c.(1243-1245)ctG>ctA p.L415L PTCHD4_uc011dwn.2_Silent_p.L162L NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA. 415 integral to membrane hedgehog receptor activity GTTTGCGATCCAGGTATTCTG 0.498000 82 33 0 0 1 0 0 GINS2 51659 broad.mit.edu 37 16 85712251 85712251 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr16:85712251C>T uc002fja.3 - 3 411 c.327G>A c.(325-327)aaG>aaA p.K109K NM_016095 NP_057179 Q9Y248 PSF2_HUMAN Homo sapiens GINS complex subunit 2 (Psf2 homolog) (GINS2), mRNA. 109 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle nucleoplasm protein binding endometrium(2)|large_intestine(2)|lung(2) 6 TTTCGTCTGCCTTCGGGATGT 0.517000 116 69 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198723483 198723483 + Nonsense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:198723483C>T uc001gur.1 + 31 3769 c.3589C>T c.(3589-3591)Caa>Taa p.Q1197* PTPRC_uc001gut.1_Nonsense_Mutation_p.Q1036* NM_002838 NP_002829 P08575 PTPRC_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA. 1197 Tyrosine-protein phosphatase 2. B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 GGATATTTTTCAAGTGGTAAA 0.378000 111 57 0 0 1 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806033 97806033 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:97806033G>A uc011bgs.2 + 0 17 c.17G>A c.(16-18)gGa>gAa p.G6E NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA. 6 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 ATATCAGAGGGAAATAAGACT 0.373000 179 77 0 0 1 0 0 ENTPD3 956 broad.mit.edu 37 3 40464489 40464489 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:40464489G>A uc003ckd.4 + 7 1072 c.980G>A c.(979-981)gGa>gAa p.G327E ENTPD3_uc010hhy.3_Missense_Mutation_p.G327E|ENTPD3-AS1_uc003cke.4_Intron NM_001248 NP_001239 O75355 ENTP3_HUMAN Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA. 327 integral to membrane ATP binding|hydrolase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) ACTTTTGAAGGAACTGGGGAC 0.448000 94 39 0 0 1 0 0 ERF 2077 broad.mit.edu 37 19 42752805 42752805 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:42752805G>A uc002ote.4 - 3 1617 c.1459C>T c.(1459-1461)Cgc>Tgc p.R487C ERF_uc002otd.4_Missense_Mutation_p.R218C NM_006494 NP_006485 P50548 ERF_HUMAN Homo sapiens Ets2 repressor factor (ERF), mRNA. 487 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) TCACTCCAGCGCCGCTTAAAG 0.682000 143 79 0 0 1 0 0 PLTP 5360 broad.mit.edu 37 20 44530940 44530940 + Missense_Mutation SNP C A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr20:44530940C>A uc002xqm.2 - 10 1736 c.1201G>T c.(1201-1203)Ggg>Tgg p.G401W PLTP_uc002xql.2_Missense_Mutation_p.G293W|PLTP_uc010zxj.2_Missense_Mutation_p.G286W|PLTP_uc002xqq.2_Missense_Mutation_p.G350W|PLTP_uc002xqn.2_Missense_Mutation_p.G381W|PLTP_uc002xqo.2_Missense_Mutation_p.G329W NM_001242921 NP_001229850 P55058 PLTP_HUMAN Homo sapiens phospholipid transfer protein (PLTP), transcript variant 4, mRNA. 381 cellular lipid metabolic process|lipid transport extracellular region lipid binding endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1) 21 Myeloproliferative disorder(115;0.0122) AGGGCCTTCCCCCGGAGAGCC 0.607000 47 18 6.49762e-13 6.5654e-13 1 1 0 KCNJ4 3761 broad.mit.edu 37 22 38823444 38823444 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr22:38823444C>T uc003avs.1 - 1 791 c.694G>A c.(694-696)Ggc>Agc p.G232S KCNJ4_uc003avt.1_Missense_Mutation_p.G232S|KCNJ4_uc021wpp.1_Missense_Mutation_p.G232S NM_004981 NP_690607 P48050 IRK4_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA. 232 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex PDZ domain binding|inward rectifier potassium channel activity endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) AGGTACTCGCCCTCCTGGGTC 0.627000 65 29 0 0 1 0 0 OR4F15 390649 broad.mit.edu 37 15 102359053 102359053 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr15:102359053C>T uc010uts.2 + 0 664 c.664C>T c.(664-666)Ctg>Ttg p.L222L NM_001001674 NP_001001674 Q8NGB8 O4F15_HUMAN Homo sapiens olfactory receptor, family 4, subfamily F, member 15 (OR4F15), mRNA. 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L222M(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10) 19 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) CATCTTCATTCTGTTCACTGT 0.468000 159 77 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 105261767 105261767 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr8:105261767C>T uc003yls.3 + 25 3937 c.3696C>T c.(3694-3696)atC>atT p.I1232I RIMS2_uc003ylp.3_Silent_p.I1214I|RIMS2_uc003ylw.2_Silent_p.I1221I|RIMS2_uc003ylq.3_Silent_p.I1028I|RIMS2_uc003ylr.3_Silent_p.I1053I NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA. 1276 intracellular protein transport cell junction|presynaptic membrane Rab GTPase binding|metal ion binding p.I1028I(2)|p.I1214I(1)|p.I1232I(1) NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AGGTAGAAATCATCCGGGCCC 0.398000 HNSCC(12;0.0054) 64 25 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 29001417 29001417 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr13:29001417G>A uc001usb.3 - 9 1600 c.1315C>T c.(1315-1317)Cca>Tca p.P439S FLT1_uc010aar.1_Missense_Mutation_p.P439S|FLT1_uc001usc.3_Missense_Mutation_p.P439S|FLT1_uc010tdp.1_Missense_Mutation_p.P439S|HV303168_uc021rhp.1_5'Flank NM_002019 NP_002010 P17948 VGFR1_HUMAN Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA. 439 Ig-like C2-type 5. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway Golgi apparatus|extracellular space|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GCCGGGTCTGGAAACGATGAC 0.502000 78 41 0 0 1 0 0 UBE4A 9354 broad.mit.edu 37 11 118235847 118235847 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:118235847C>T uc001psw.3 + 1 187 c.52C>T c.(52-54)Ctt>Ttt p.L18F UBE4A_uc001psv.3_Missense_Mutation_p.L18F NM_001204077 NP_001191006 Q14139 UBE4A_HUMAN Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA. 18 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) CTTTGCTGCTCTTTTTGGCTC 0.463000 21 33 0 0 1 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455038 187455038 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr4:187455038G>A uc003izd.1 - 1 876 c.858C>T c.(856-858)ttC>ttT p.F286F NM_005958 NP_005949 P48039 MTR1A_HUMAN Homo sapiens melatonin receptor 1A (MTNR1A), mRNA. 286 G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|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) GGCAGCTGTTGAAATACGCCA 0.507000 138 90 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 80968129 80968130 + Missense_Mutation DNP AC TT TT TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:80968129_80968130AC>TT uc001kaf.2 + 5 669_670 c.97_98AC>TT c.(97-99)acg>TTg p.T33L ZMIZ1_uc001kae.3_Missense_Mutation_p.T33L NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA. 33 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CAATGCCGCCACGGAGCTGCTG 0.624000 69 20 0 0 1 0 0 TTC18 118491 broad.mit.edu 37 10 75038070 75038070 + Silent SNP T A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:75038070T>A uc009xrc.3 - 20 2596 c.2475A>T c.(2473-2475)ctA>ctT p.L825L TTC18_uc001jty.3_Silent_p.L825L|TTC18_uc001jtv.4_5'UTR|TTC18_uc001jtw.4_5'UTR|TTC18_uc001jtx.3_Silent_p.L206L NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA. 825 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) GAAATTTGTCTAGAATAGATA 0.328000 36 16 0 0 1 0 0 SEMA6C 10500 broad.mit.edu 37 1 151105670 151105670 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:151105670G>A uc001ewv.3 - 19 2515 c.2179C>T c.(2179-2181)Ctg>Ttg p.L727L SEMA6C_uc001ewu.3_Silent_p.L695L|SEMA6C_uc001eww.3_Silent_p.L687L NM_001178061 NP_001171532 Q9H3T2 SEM6C_HUMAN Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA. 695 integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) AGGCAGGCCAGCTCCGGCGGG 0.746000 37 8 0 0 1 0 0 GPR137 56834 broad.mit.edu 37 11 64056633 64056633 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:64056633C>T uc010rni.2 + 8 1252 c.1224C>T c.(1222-1224)gcC>gcT p.A408A GPR137_uc010rnj.2_3'UTR|GPR137_uc001nzf.3_Missense_Mutation_p.H336Y|GPR137_uc001nzi.3_Missense_Mutation_p.H386Y|GPR137_uc021qkt.1_Silent_p.A350A|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.4_5'Flank|KCNK4_uc001nzn.1_5'Flank NM_001170726 NP_001164197 Q96N19 G137A_HUMAN Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA. 350 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 ACCAGGCGGCCACCACCACAG 0.662000 117 43 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92592402 92592402 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:92592402G>A uc001pdj.4 + 19 11589 c.11572G>A c.(11572-11574)Gat>Aat p.D3858N FAT3_uc001pdi.4_Missense_Mutation_p.D298N NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 3858 Laminin G-like. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CAAAGAAGAGGATTTCAAACT 0.393000 TCGA Ovarian(4;0.039) 24 19 0 0 1 0 0 SH3RF1 57630 broad.mit.edu 37 4 170028093 170028093 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr4:170028093G>A uc003isa.1 - 10 2738 c.2403C>T c.(2401-2403)tcC>tcT p.S801S NM_020870 NP_065921 Q7Z6J0 SH3R1_HUMAN Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA. 801 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) CGGAGTCCAGGGAACTTGCCT 0.612000 132 76 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227946866 227946867 + Nonsense_Mutation DNP CC TA TA TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:227946866_227946867CC>TA uc021vxr.1 - 21 1761_1762 c.1660_1661GG>TA c.(1660-1662)ggg>TAg p.G554* COL4A4_uc021vxs.1_Nonsense_Mutation_p.G554* NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 554 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) ACCCTTCGCCCCTTTGTTGCCA 0.421000 176 76 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71382004 71382004 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:71382004G>A uc010dfm.3 - 31 4551 c.4551C>T c.(4549-4551)tcC>tcT p.S1517S SDK2_uc002jjt.4_Silent_p.S676S|SDK2_uc010dfn.2_Silent_p.S1196S NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 1517 Fibronectin type-III 10. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GGATTAGCACGGAGGTGGTGG 0.632000 30 7 0 0 1 0 0 OTX1 5013 broad.mit.edu 37 2 63283274 63283274 + Silent SNP T C C TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:63283274T>C uc021vim.1 + 4 1164 c.888T>C c.(886-888)caT>caC p.H296H OTX1_uc002scd.3_Silent_p.H296H|OTX1_uc010ypt.2_Silent_p.H230H NM_001199770 NP_001186699 P32242 OTX1_HUMAN Homo sapiens orthodenticle homeobox 1 (OTX1), transcript variant 2, mRNA. 296 His-rich. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) accaccaccatcaccaccacc 0.642000 131 6 0 0 1 0 0 ZFYVE19 84936 broad.mit.edu 37 15 41102083 41102083 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr15:41102083C>T uc001zmt.1 + 3 1000 c.486C>T c.(484-486)ccC>ccT p.P162P DNAJC17_uc001zms.2_5'Flank|DNAJC17_uc010bbz.2_5'Flank|DNAJC17_uc010bca.2_5'Flank|DNAJC17_uc010bcb.2_5'Flank|ZFYVE19_uc001zmu.1_Silent_p.P162P|ZFYVE19_uc001zmv.1_5'UTR NM_001077268 NP_001070736 Q96K21 ZFY19_HUMAN Homo sapiens zinc finger, FYVE domain containing 19 (ZFYVE19), mRNA. 162 zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 9 all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164) AGCAAAAGCCCAGCACTTCCC 0.582000 116 48 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25755598 25755598 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:25755598C>T uc001isj.3 + 4 1414 c.1354C>T c.(1354-1356)Ctt>Ttt p.L452F NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 452 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GGCATCGGGCCTTATCCTGTT 0.348000 54 26 0 0 1 0 0 NECAB1 64168 broad.mit.edu 37 8 91937813 91937813 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr8:91937813G>A uc011lgg.2 + 6 739 c.545G>A c.(544-546)cGa>cAa p.R182Q NM_022351 NP_071746 Q8N987 NECA1_HUMAN Homo sapiens N-terminal EF-hand calcium binding protein 1 (NECAB1), mRNA. 182 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 12 BRCA - Breast invasive adenocarcinoma(11;0.0499) CCTGGAAAACGATCAAGCCGC 0.463000 34 17 0 0 1 0 0 AOC4 90586 broad.mit.edu 37 17 41019509 41019509 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:41019509C>T uc002ibw.1 + 0 348 c.214C>T c.(214-216)Cgc>Tgc p.R72C AF047486_uc002ibx.3_5'Flank Homo sapiens AOC3 pseudogene (AOC4), non-coding RNA. GGCTGTGATGCGCTTTCTGAC 0.637000 448 6 0 0 1 0 0 SNRNP48 154007 broad.mit.edu 37 6 7601643 7601643 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:7601643C>T uc003mxr.3 + 4 540 c.481C>T c.(481-483)Cgt>Tgt p.R161C SNRNP48_uc003mxs.3_Non-coding_Transcript NM_152551 NP_689764 Q6IEG0 SNR48_HUMAN Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA. 161 mRNA processing U12-type spliceosomal complex|cytoplasm metal ion binding kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 TCAAGCTGATCGTCTTGCCCT 0.363000 133 48 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179452749 179452749 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:179452749C>T uc021vsy.1 - 253 55906 c.55681G>A c.(55681-55683)Gaa>Aaa p.E18561K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E12256K|TTN_uc021vta.1_Missense_Mutation_p.E12189K|TTN_uc021vtb.1_Missense_Mutation_p.E12064K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 19488 Fibronectin type-III 34. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACAGTGAATTCCTTGCGTACA 0.473000 41 31 0 0 1 0 0 SGSM1 129049 broad.mit.edu 37 22 25315917 25315917 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr22:25315917G>A uc003abg.2 + 24 3472 c.3315G>A c.(3313-3315)ttG>ttA p.L1105L SGSM1_uc010guu.1_Silent_p.L1050L|SGSM1_uc003abh.2_Silent_p.L1044L|SGSM1_uc003abj.2_Silent_p.L989L|SGSM1_uc003abi.1_Silent_p.L1025L NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA. 1105 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 ACATCATTTTGGAGAACAACA 0.522000 29 17 0 0 1 0 0 CYP2S1 29785 broad.mit.edu 37 19 41709394 41709394 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:41709394G>A uc002opw.3 + 6 1071 c.1016G>A c.(1015-1017)gGc>gAc p.G339D CYP2S1_uc010xvx.2_Missense_Mutation_p.G64D NM_030622 NP_085125 Q96SQ9 CP2S1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA. 339 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 CTGGGGGCTGGCCAGGCACCA 0.662000 20 3 0 0 1 0 0 SLC25A46 91137 broad.mit.edu 37 5 110097004 110097004 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:110097004C>T uc003koz.3 + 7 846 c.779C>T c.(778-780)cCg>cTg p.P260L SLC25A46_uc011cvi.2_Missense_Mutation_p.P169L NM_138773 NP_620128 Q96AG3 S2546_HUMAN Homo sapiens solute carrier family 25, member 46 (SLC25A46), mRNA. 260 transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 10 all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211) CGACTTCTTCCGCTTCTTTCC 0.403000 121 58 0 0 1 0 0 EIF3E 3646 broad.mit.edu 37 8 109260899 109260899 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr8:109260899C>T uc003ymu.3 - 0 61 c.33G>A c.(31-33)gcG>gcA p.A11A EIF3E_uc010mcj.1_Silent_p.A11A NM_001568 NP_001559 P60228 EIF3E_HUMAN Homo sapiens eukaryotic translation initiation factor 3, subunit E (EIF3E), mRNA. 11 Sufficient for interaction with EPAS1.|Sufficient for interaction with TRIM27. negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay PML body|cytosol|eukaryotic translation initiation factor 3 complex protein N-terminus binding p.A11A(2)|p.I10I(2) EIF3E/RSPO2(6) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(57;6.84e-10) CCAAAAAGTGCGCGATGCGAG 0.512000 372 6 0 0 1 0 0 IL17RE 132014 broad.mit.edu 37 3 9948679 9948679 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:9948679C>T uc003btu.3 + 6 685 c.681C>T c.(679-681)gcC>gcT p.A227A CIDEC_uc003bto.3_Intron|IL17RE_uc003btv.3_Silent_p.A187A|IL17RE_uc011atn.1_Non-coding_Transcript|IL17RE_uc003bty.3_Non-coding_Transcript|IL17RE_uc003btx.3_Silent_p.A71A|IL17RE_uc010hcq.3_Silent_p.A187A|IL17RE_uc003btw.3_Silent_p.A187A NM_153483 NP_705616 Q8NFR9 I17RE_HUMAN Homo sapiens interleukin 17 receptor E (IL17RE), transcript variant 5, mRNA. 187 cytoplasm|extracellular region|integral to membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) TGCCTGAGGCCCGGGCTATTC 0.572000 77 39 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107838818 107838818 + Silent SNP C T T rs104886330 TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chrX:107838818C>T uc022ccg.1 + 21 1705 c.1503C>T c.(1501-1503)ctC>ctT p.L501L COL4A5_uc004enz.1_Silent_p.L501L|COL4A5_uc004eob.1_Silent_p.L109L NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 501 Triple-helical region. Missing (in APSX; juvenile type). axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TGCCAGGTCTCCCAGGTCCTC 0.408000 Alport syndrome with Diffuse Leiomyomatosis 30 51 0 0 1 0 0 IFT140 9742 broad.mit.edu 37 16 1616272 1616272 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr16:1616272G>A uc002cmb.3 - 15 2153 c.1791C>T c.(1789-1791)tcC>tcT p.S597S IFT140_uc002clz.3_Silent_p.S248S NM_014714 NP_055529 Q96RY7 IF140_HUMAN Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA. 597 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) AGCAGATTTTGGAATCAGGGC 0.507000 130 74 0 0 1 0 0 MASP2 10747 broad.mit.edu 37 1 11087300 11087300 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:11087300C>T uc001aru.3 - 10 1735 c.1703G>A c.(1702-1704)gGa>gAa p.G568E NM_006610 NP_006601 O00187 MASP2_HUMAN Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA. 568 Peptidase S1. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 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;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) AGATGCAGTTCCAATGTCATC 0.383000 165 81 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248525669 248525669 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:248525669G>A uc001ieh.1 + 0 787 c.787G>A c.(787-789)Gca>Aca p.A263T NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA. 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGAACTCAGCAGAGGGCCG 0.532000 140 80 0 0 1 0 0 TRBV4-2 28616 broad.mit.edu 37 7 142045754 142045754 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:142045754C>T uc003vxp.4 + 1 391 c.282C>T c.(280-282)ttC>ttT p.F94F TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_Non-coding_Transcript SubName: Full=V_segment translation product; Flags: Fragment; CTCACTTATTCCTTCACCTAC 0.502000 692 205 0 0 1 0 0 RPS4Y2 140032 broad.mit.edu 37 Y 22923253 22923253 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chrY:22923253G>A uc011nbb.2 + 3 442 c.346G>A c.(346-348)Gtg>Atg p.V116M NM_001039567 NP_001034656 Q8TD47 RS4Y2_HUMAN Homo sapiens ribosomal protein S4, Y-linked 2 (RPS4Y2), mRNA. 116 translation ribosome rRNA binding|structural constituent of ribosome lung(2) 2 TCGTATCACAGTGGAAGAGGC 0.428000 8 35 0 0 1 0 0 AK5 26289 broad.mit.edu 37 1 77763385 77763385 + Missense_Mutation SNP T C C TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:77763385T>C uc001dhn.3 + 3 894 c.557T>C c.(556-558)aTa>aCa p.I186T AK5_uc001dho.3_Missense_Mutation_p.I160T|AK5_uc001dhm.2_Missense_Mutation_p.I162T NM_174858 NP_036225 Q9Y6K8 KAD5_HUMAN Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA. 186 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 ATTGCCAAGATAATTACAACT 0.363000 174 6 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179631247 179631247 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:179631247C>T uc010pnp.2 + 14 2849 c.2331C>T c.(2329-2331)atC>atT p.I777I TDRD5_uc021pfm.1_Silent_p.I723I|TDRD5_uc001gnf.2_Silent_p.I723I|TDRD5_uc021pfn.1_Silent_p.I777I|TDRD5_uc001gnh.2_Silent_p.I278I NM_001199085 NP_001186014 Q8NAT2 TDRD5_HUMAN Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA. 774 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding p.E777Q(1) NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 AGGATGAGATCCCCACTGGAA 0.388000 108 58 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10312862 10312862 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:10312862G>A uc002gmm.2 - 15 1726 c.1631C>T c.(1630-1632)cCt>cTt p.P544L AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 544 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CGTTGCCTTAGGGAACATGCA 0.493000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 119 69 0 0 1 0 0 MEOX2 4223 broad.mit.edu 37 7 15725588 15725588 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:15725588C>T uc003stc.3 - 0 721 c.440G>A c.(439-441)gGg>gAg p.G147E NM_005924 NP_005915 P50222 MEOX2_HUMAN Homo sapiens mesenchyme homeobox 2 (MEOX2), mRNA. 147 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) GCCGTAGTCCCCCGGCGCGCA 0.706000 295 66 0 0 1 0 0 CYP46A1 10858 broad.mit.edu 37 14 100157455 100157455 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr14:100157455G>A uc001ygo.3 + 1 157 c.157G>A c.(157-159)Gat>Aat p.D53N CYP46A1_uc001ygn.1_5'UTR NM_006668 NP_006659 Q9Y6A2 CP46A_HUMAN Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA. 53 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1) 25 Melanoma(154;0.0866)|all_epithelial(191;0.179) TTGGAAAAAGGATGAGGTTGG 0.502000 149 78 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38352297 38352297 + Splice_Site SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:38352297G>A uc003jlc.2 + 5 756 c.410_splice c.e5-1 p.D137_splice EGFLAM_uc003jlb.2_Splice_Site_p.D137_splice NM_001205301 NP_001192230 Q63HQ2 EGFLA_HUMAN Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA. 137 cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) ATCCCACCTAGATTCCTGCCT 0.542000 155 96 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1616927 1616927 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr20:1616927C>T uc002wfm.1 - 2 720 c.655G>A c.(655-657)Gac>Aac p.D219N SIRPG_uc002wfn.1_Missense_Mutation_p.D219N|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron NM_018556 NP_061026 Q9P1W8 SIRPG_HUMAN Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA. 219 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 GAGCGAACGTCCCAGGGGTCC 0.612000 98 60 0 0 1 0 0 AL117485 0 broad.mit.edu 37 22 18846126 18846126 + RNA SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr22:18846126G>A uc002zoe.3 + 4 c.2488G>A AL117485_uc002zof.3_5'Flank Homo sapiens cDNA FLJ76361 complete cds. ACTGGCGCACGATGTAGGGCA 0.617000 66 4 0 0 1 0 0 SIRPB2 284759 broad.mit.edu 37 20 1460428 1460428 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr20:1460428C>T uc002wfg.2 - 1 596 c.368G>A c.(367-369)gGa>gAa p.G123E SIRPB2_uc002wfh.3_Intron|SIRPB2_uc010zpr.1_5'UTR NM_001122962 NP_001116434 Q5JXA9 SIRB2_HUMAN Homo sapiens signal-regulatory protein beta 2 (SIRPB2), transcript variant 1, mRNA. 123 Ig-like V-type 1. integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GTGGTAGGTTCCAGTGTGCTC 0.488000 136 81 0 0 1 0 0 KRT16 3868 broad.mit.edu 37 17 39768440 39768440 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:39768440G>A uc002hxg.4 - 0 640 c.501C>T c.(499-501)taC>taT p.Y167Y JUP_uc010wfs.2_Intron|KRT16_uc021txm.1_Silent_p.Y167Y NM_005557 NP_005548 P08779 K1C16_HUMAN Homo sapiens keratin 16 (KRT16), mRNA. 167 Linker 1.|Rod. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) TGGTCTTGAAGTAGGGACTGT 0.562000 210 108 0 0 1 0 0 OLAH 55301 broad.mit.edu 37 10 15115166 15115166 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:15115166G>A uc001int.2 + 8 1149 c.895G>A c.(895-897)Gag>Aag p.E299K ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Missense_Mutation_p.E246K NM_018324 NP_060794 Q9NV23 SAST_HUMAN Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA. 246 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity p.E299K(2) endometrium(2)|large_intestine(1)|lung(14)|stomach(1) 18 TCCTGCGAACGAGAAATTAAT 0.328000 53 22 0 0 1 0 0 TERT 7015 broad.mit.edu 37 5 1255463 1255463 + Silent SNP G A A rs67578903 TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:1255463G>A uc003jcb.1 - 13 3154 c.3096C>T c.(3094-3096)ttC>ttT p.F1032F TERT_uc003jbz.1_Silent_p.F228F|TERT_uc003jcc.1_Silent_p.F969F|TERT_uc003jca.1_Silent_p.F1020F|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Non-coding_Transcript|TERT_uc021xwa.1_Missense_Mutation_p.P95S|TERT_uc021xwb.1_Silent_p.F184F NM_198253 NP_937983 O14746 TERT_HUMAN Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA. 1032 CTE. DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase PML body|cytoplasm|nucleolus|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TGACGCGCAGGAAAAATGTGG 0.567000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 45 24 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52321071 52321071 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr8:52321071G>A uc003xqu.4 - 16 3214 c.3113C>T c.(3112-3114)cCc>cTc p.P1038L PXDNL_uc003xqt.4_Non-coding_Transcript NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 1038 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) ATTCACGTTGGGGTTGTAGCC 0.527000 30 15 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116339798 116339798 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:116339798G>A uc003vij.3 + 1 847 c.660G>A c.(658-660)aaG>aaA p.K220K MET_uc022akk.1_Silent_p.K220K|MET_uc010lkh.3_Silent_p.K220K|MET_uc011knc.1_Silent_p.K220K|MET_uc011knd.2_Silent_p.K220K|MET_uc011knf.2_Silent_p.K220K|MET_uc011kne.2_Silent_p.K220K|MET_uc011kng.1_Silent_p.K220K|MET_uc011knh.1_Silent_p.K220K|MET_uc011kni.2_Silent_p.K220K|MET_uc003vii.1_Silent_p.K239K|MET_uc010lkg.3_Silent_p.K220K|MET_uc011kmz.1_Silent_p.K220K|MET_uc011kna.1_Silent_p.K220K|MET_uc011knb.1_Silent_p.K220K NM_000245 NP_000236 P08581 MET_HUMAN Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA. 220 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) GAAGGCTAAAGGAAACGAAAG 0.388000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 305 116 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 132052117 132052117 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr8:132052117G>A uc003ytd.4 - 0 719 c.463C>T c.(463-465)Ccc>Tcc p.P155S ADCY8_uc010mds.3_Missense_Mutation_p.P155S NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 155 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|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CGCAGGGTGGGGAAAATGACC 0.562000 HNSCC(32;0.087) 48 23 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30486859 30486860 + Missense_Mutation DNP GG AA AA TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr16:30486859_30486860GG>AA uc002dyi.4 + 3 461_462 c.285_286GG>AA c.(283-288)ttggga>ttAAga p.G96R ITGAL_uc010veu.1_Non-coding_Transcript|ITGAL_uc002dyj.4_Missense_Mutation_p.G96R|ITGAL_uc010vev.2_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA. 96 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) CCAAGTACTTGGGAATGACCTT 0.500000 119 51 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142568566 142568566 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:142568566G>A uc011kst.2 + 19 3762 c.2975G>A c.(2974-2976)gGc>gAc p.G992D EPHB6_uc011ksu.2_Missense_Mutation_p.G992D|EPHB6_uc003wbs.3_Missense_Mutation_p.G700D|EPHB6_uc003wbt.3_Missense_Mutation_p.G466D|EPHB6_uc003wbu.3_Missense_Mutation_p.G700D|EPHB6_uc003wbv.3_Missense_Mutation_p.G376D NM_004445 NP_004436 O15197 EPHB6_HUMAN Homo sapiens EPH receptor B6 (EPHB6), mRNA. 992 SAM. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity p.I991I(1) NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CCTGCCCTGGGCATCACCCTG 0.617000 186 5 0 0 1 0 0 OR1J4 26219 broad.mit.edu 37 9 125281422 125281422 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:125281422G>A uc011lyw.2 + 0 3 c.3G>A c.(1-3)atG>atA p.M1I NM_001004452 NP_001004452 Q8NGS1 OR1J4_HUMAN Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA. 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 20 CTGTCAGCATGAAGAGGGAGA 0.478000 100 50 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 69299374 69299374 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:69299374G>A uc009xpn.1 - 3 469 c.346C>T c.(346-348)Cca>Tca p.P116S CTNNA3_uc001jmw.2_Missense_Mutation_p.P116S|CTNNA3_uc001jmx.4_Missense_Mutation_p.P116S|CTNNA3_uc009xpo.1_Intron|CTNNA3_uc001jna.2_Missense_Mutation_p.P128S NM_001127384 NP_037398 Q9UI47 CTNA3_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA. 116 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 TCCCTTTTTGGGAGAAAACAG 0.458000 80 51 0 0 1 0 0 C2orf78 388960 broad.mit.edu 37 2 74043300 74043300 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:74043300C>T uc002sjr.1 + 2 2071 c.1950C>T c.(1948-1950)ttC>ttT p.F650F NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA. 650 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 AAACTGGATTCTCTTCCTCCA 0.512000 89 38 0 0 1 0 0 NTF4 4909 broad.mit.edu 37 19 49564946 49564946 + Nonsense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:49564946C>T uc002pmf.4 - 1 445 c.309G>A c.(307-309)tgG>tgA p.W103* NTF4_uc010yah.1_Intron|NTF4_uc021uxg.1_Nonsense_Mutation_p.W103* NM_006179 NP_006170 P34130 NTF4_HUMAN Homo sapiens neurotrophin 4 (NTF4), mRNA. 103 adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification endoplasmic reticulum lumen|extracellular region growth factor activity kidney(1)|lung(4)|upper_aerodigestive_tract(1) 6 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) GGTCTGTCACCCAGCCACTGA 0.692000 79 39 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196759927 196759927 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:196759927G>A uc002utj.4 - 29 4770 c.4669C>T c.(4669-4671)Cct>Tct p.P1557S NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1557 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TTTACCCCAGGAAACAAATCC 0.318000 63 38 0 0 1 0 0 ZNF365 22891 broad.mit.edu 37 10 64136423 64136423 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:64136423C>T uc001jmc.2 + 1 786 c.471C>T c.(469-471)ttC>ttT p.F157F ZNF365_uc001jly.4_Silent_p.F172F|ZNF365_uc001jmb.4_Silent_p.F157F|ZNF365_uc001jlz.4_Silent_p.F157F|ZNF365_uc001jma.4_Intron NM_199451 NP_955523 Q70YC4 TALAN_HUMAN Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA. 0 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) AAGCTTCTTTCGAGGCACATG 0.502000 122 56 0 0 1 0 0 RTTN 25914 broad.mit.edu 37 18 67871439 67871439 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr18:67871439G>A uc002lkp.2 - 2 348 c.280C>T c.(280-282)Cgg>Tgg p.R94W RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.R94W NM_173630 NP_775901 Q86VV8 RTTN_HUMAN Homo sapiens rotatin (RTTN), mRNA. 94 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) ACATTAGACCGAAGCTTAGAT 0.423000 172 77 0 0 1 0 0 FCN2 2220 broad.mit.edu 37 9 137775168 137775168 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:137775168C>T uc004cfg.1 + 2 245 c.235C>T c.(235-237)Cct>Tct p.P79S FCN2_uc004cfh.1_Missense_Mutation_p.P41S NM_004108 NP_004099 Q15485 FCN2_HUMAN Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA. 79 Collagen-like. complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 20 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) CCCCCCTGGACCTCCTGGGAA 0.612000 106 50 0 0 1 0 0 CD2AP 23607 broad.mit.edu 37 6 47563623 47563623 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:47563623C>T uc003oyw.3 + 11 1591 c.1135C>T c.(1135-1137)Cct>Tct p.P379S NM_012120 NP_036252 Q9Y5K6 CD2AP_HUMAN Homo sapiens CD2-associated protein (CD2AP), mRNA. 379 Pro-rich. cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) GGAACAGAAACCTTCTAAACC 0.353000 495 135 0 0 1 0 0 DCDC5 100506627 broad.mit.edu 37 11 30946900 30946900 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:30946900C>T uc009yjk.1 - 10 1366 c.1297G>A c.(1297-1299)Ggg>Agg p.G433R DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.G92R NM_020869 NP_065920 Q6ZRR9 DCDC5_HUMAN Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA. 64 intracellular signal transduction p.G64R(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1) 31 ATTTCCTTCCCCTTTTCATTG 0.353000 172 110 0 0 1 0 0 GALNT4 8693 broad.mit.edu 37 12 89916703 89916703 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:89916703G>A uc001tbd.3 - 0 1881 c.1624C>T c.(1624-1626)Cca>Tca p.P542S GALNT4_uc001tba.3_Intron|GALNT4_uc001tbb.3_Intron|GALNT4_uc010sun.2_Intron|GALNT4_uc001tbc.3_Intron|GALNT4_uc001tbe.3_Missense_Mutation_p.P539S|GALNT4_uc010suo.2_Missense_Mutation_p.P370S NM_003774 NP_003765 Q8N4A0 GALT4_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) (GALNT4), mRNA. 542 Ricin B-type lectin. carbohydrate metabolic process Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1) 14 CCTGAGTGTGGGTGAAAAATA 0.403000 36 100 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57087839 57087839 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:57087839G>A uc001njr.3 - 1 754 c.442C>T c.(442-444)Cct>Tct p.P148S TNKS1BP1_uc001njs.3_Missense_Mutation_p.P148S|TNKS1BP1_uc009ymd.1_5'UTR NM_033396 NP_203754 Q9C0C2 TB182_HUMAN Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA. 148 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) GGGCGGAAAGGGGCAGGGGCC 0.662000 128 62 0 0 1 0 0 WDR3 10885 broad.mit.edu 37 1 118486082 118486082 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:118486082C>T uc010oxe.1 + 10 1227 c.1161C>T c.(1159-1161)aaC>aaT p.N387N WDR3_uc001ehi.2_Intron NM_006784 NP_006775 Q9UNX4 WDR3_HUMAN Homo sapiens WD repeat domain 3 (WDR3), mRNA. 387 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) TGCAGAACAACCTGGTGGAAT 0.453000 45 22 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40392041 40392042 + Missense_Mutation DNP CT TC TC TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:40392041_40392042CT>TC uc002rrx.3 - 6 2145_2146 c.2121_2122AG>GA c.(2119-2124)ggagag>ggGAag p.E708K LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.E703K|SLC8A1_uc002rsb.2_Missense_Mutation_p.E700K|SLC8A1_uc002rrz.3_Missense_Mutation_p.E695K|SLC8A1_uc002rsa.3_Missense_Mutation_p.E672K|SLC8A1_uc002rsd.4_Missense_Mutation_p.E672K NM_021097 NP_066920 P32418 NAC1_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA. 708 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TTGGTGTGCTCTCCCAGGATGG 0.510000 166 92 0 0 1 0 0 TCRBV5S2 0 broad.mit.edu 37 7 142131541 142131541 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:142131541C>T uc010lnz.1 - 1 258 c.214G>A c.(214-216)Gaa>Aaa p.E72K TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRBV5S2_uc022ang.1_Non-coding_Transcript SubName: Full=V_segment translation product; Flags: Fragment; TGTCTCTCTTCCTCCTCATAA 0.522000 95 107 0 0 1 0 0 CCDC68 80323 broad.mit.edu 37 18 52609991 52609992 + Missense_Mutation DNP GG AA AA rs145559755 TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr18:52609991_52609992GG>AA uc002lfs.3 - 2 203_204 c.31_32CC>TT c.(31-33)ccc>TTc p.P11F CCDC68_uc002lft.3_Missense_Mutation_p.P11F NM_001143829 NP_079490 Q9H2F9 CCD68_HUMAN Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA. 11 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1) 14 Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21) ATCCCTTGGGGGAATTTCTGTG 0.386000 88 39 0 0 1 0 0 PSD 5662 broad.mit.edu 37 10 104164796 104164796 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:104164796C>T uc001kvg.1 - 13 2941 c.2414G>A c.(2413-2415)gGg>gAg p.G805E PSD_uc001kvh.1_Missense_Mutation_p.G426E|PSD_uc009xxd.1_Missense_Mutation_p.G805E NM_002779 NP_002770 A5PKW4 PSD1_HUMAN Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA. 805 PH. 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) AAGGGCCTTCCCAGGCTTGTA 0.607000 70 22 0 0 1 0 0 AACS 65985 broad.mit.edu 37 12 125626694 125626694 + Silent SNP A G G TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:125626694A>G uc001uhc.3 + 17 2144 c.1938A>G c.(1936-1938)aaA>aaG p.K646K AACS_uc001uhd.3_Missense_Mutation_p.S579G|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_Silent_p.K244K NM_023928 NP_076417 Q86V21 AACS_HUMAN Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA. 646 fatty acid metabolic process cytosol ATP binding|acetoacetate-CoA ligase activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) TCGCTGGAAAAGCCGTGGAGC 0.532000 209 5 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834477 101834477 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:101834477G>A uc003knn.3 - 0 244 c.72C>T c.(70-72)gcC>gcT p.A24A SLCO6A1_uc003kno.3_Silent_p.A24A|SLCO6A1_uc003knp.3_Silent_p.A24A|SLCO6A1_uc003knq.3_Silent_p.A24A NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA. 24 integral to membrane|plasma membrane transporter activity p.A24A(2)|p.E23fs*29(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) GGGCCCGCGCGGCCTCCAGCG 0.652000 257 149 0 0 1 0 0 FAM75A6 389730 broad.mit.edu 37 9 43626674 43626674 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:43626674C>T uc011lrb.2 - 3 2042 c.2013G>A c.(2011-2013)ctG>ctA p.L671L NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA. 671 integral to membrane breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1) 54 GGGTCTCACCCAGAATTTGCC 0.552000 55 95 0 0 1 0 0 KIF25 3834 broad.mit.edu 37 6 168439361 168439361 + Missense_Mutation SNP T G G TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:168439361T>G uc003qwk.1 + 4 708 c.446T>G c.(445-447)gTg>gGg p.V149G KIF25_uc003qwl.1_Missense_Mutation_p.V149G NM_030615 NP_085118 Q9UIL4 KIF25_HUMAN Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA. 149 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) AAGCGTGAGGTGGTGACAGCC 0.542000 92 41 0 0 1 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823774 38823774 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr22:38823774G>A uc003avs.1 - 1 461 c.364C>T c.(364-366)Ctg>Ttg p.L122L KCNJ4_uc003avt.1_Silent_p.L122L|KCNJ4_uc021wpp.1_Silent_p.L122L NM_004981 NP_690607 P48050 IRK4_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA. 122 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex PDZ domain binding|inward rectifier potassium channel activity endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) AAGGCACCCAGGAAGCCGTTC 0.706000 117 42 0 0 1 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540186 169540186 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:169540186G>A uc003fgb.3 + 0 477 c.477G>A c.(475-477)aaG>aaA p.K159K NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA. 159 K -> E (in dbSNP:rs16854411). breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 GTCTGCCCAAGGAAATAGTGA 0.502000 102 54 0 0 1 0 0 FAM109B 150368 broad.mit.edu 37 22 42473393 42473393 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr22:42473393C>T uc003bbz.3 + 2 283 c.96C>T c.(94-96)acC>acT p.T32T FAM109B_uc021wqi.1_Silent_p.T32T|C22orf32_uc003bca.3_5'Flank NM_001002034 NP_001002034 Q6ICB4 SESQ2_HUMAN Homo sapiens family with sequence similarity 109, member B (FAM109B), mRNA. 32 PH. endosome organization|receptor recycling|retrograde transport, endosome to Golgi clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network protein homodimerization activity endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1) 8 GCCCAGGGACCCCACCGACCC 0.647000 170 98 0 0 1 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24895366 24895367 + Missense_Mutation DNP GG AA AA TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr13:24895366_24895367GG>AA uc001upj.3 + 3 523_524 c.462_463GG>AA c.(460-465)atgggc>atAAgc p.154_155MG>IS SPATA13_uc001upe.3_Non-coding_Transcript NM_178540 NP_848635 P0C862 C1T9A_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA. 154 Collagen-like 2. collagen hormone activity endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) CGGGCCCCATGGGCCCTATTGG 0.629000 11 22 0 0 1 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64521976 64521976 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:64521976C>T uc003jtp.3 - 15 2818 c.2004G>A c.(2002-2004)gcG>gcA p.A668A ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Silent_p.A289A NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 668 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) CATCGATCACCGCAGGAGCAC 0.438000 99 47 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49695008 49695008 + Silent SNP C T T rs140023119 byFrequency TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:49695008C>T uc003cxe.4 + 4 8133 c.8019C>T c.(8017-8019)tcC>tcT p.S2673S NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 2673 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GTGACTGCTCCGTGCAGACGG 0.612000 98 37 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43259348 43259348 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:43259348G>A uc002ouo.2 - 3 878 c.780C>T c.(778-780)ttC>ttT p.F260F PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Silent_p.F260F|PSG8_uc010ein.3_Silent_p.F138F|PSG3_uc002oun.3_Intron NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA. 260 Ig-like C2-type 2. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GTTCACAGGTGAAGTTTAAGA 0.473000 308 160 0 0 1 0 0 PPFIA3 8541 broad.mit.edu 37 19 49651415 49651415 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:49651415C>T uc002pmr.3 + 23 3243 c.2911C>T c.(2911-2913)Cgc>Tgc p.R971C PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc002pms.3_Missense_Mutation_p.R830C|PPFIA3_uc002pmt.3_Missense_Mutation_p.R110C|PPFIA3_uc002pmu.1_Missense_Mutation_p.R20C NM_003660 NP_003651 O75145 LIPA3_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA. 971 SAM 2. cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) GCCCCAATACCGCAGCTACTT 0.587000 130 75 0 0 1 0 0 ZCCHC2 54877 broad.mit.edu 37 18 60241715 60241715 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr18:60241715C>T uc002lip.4 + 12 2401 c.2401C>T c.(2401-2403)Cca>Tca p.P801S ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Missense_Mutation_p.P271S NM_017742 NP_060212 Q9C0B9 ZCHC2_HUMAN Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA. 801 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 AACCTTCCTTCCACACAGTAG 0.488000 73 40 0 0 1 0 0 CA10 56934 broad.mit.edu 37 17 49731062 49731062 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:49731062C>T uc002itv.4 - 5 1255 c.519G>A c.(517-519)acG>acA p.T173T CA10_uc002itw.4_Silent_p.T167T|CA10_uc002itx.4_Silent_p.T167T|CA10_uc002ity.4_Silent_p.T167T|CA10_uc002itz.2_Silent_p.T167T NM_020178 NP_064563 Q9NS85 CAH10_HUMAN Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA. 167 brain development p.T167T(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) CTGTGACATTCGTATATAGCT 0.398000 91 38 0 0 1 0 0 ECT2L 345930 broad.mit.edu 37 6 139203969 139203969 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:139203969C>T uc003qif.2 + 15 2314 c.1989C>T c.(1987-1989)ttC>ttT p.F663F ECT2L_uc021zfx.1_Silent_p.F663F|ECT2L_uc011edq.1_Silent_p.F594F NM_001077706 NP_001181966 Q008S8 ECT2L_HUMAN Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA. 663 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 ATACCAATTTCTTCAACAATT 0.408000 """N, Splice, Mis""" ETP ALL 67 34 0 0 1 0 0 SYNDIG1L 646658 broad.mit.edu 37 14 74876505 74876505 + Splice_Site SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr14:74876505C>T uc001xpx.2 - 2 192 c.-56_splice c.e2-1 NM_001105579 NP_001099049 A6NDD5 SYN1L_HUMAN Homo sapiens synapse differentiation inducing 1-like (SYNDIG1L), mRNA. response to biotic stimulus Golgi apparatus|integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1) 14 TCCTCAGAGCCTGTCAGAAGA 0.602000 34 14 0 0 1 0 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651483 1651483 + Missense_Mutation SNP G C C TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:1651483G>C uc001lty.3 + 0 451 c.413G>C c.(412-414)gGc>gCc p.G138A MOB2_uc001ltq.2_Intron NM_001001480 NP_001001480 Q701N2 KRA55_HUMAN Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA. 138 8 X 4 AA repeats of C-C-X-P. keratin filament p.G138A(2) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) TCCAAGGGGGGCTGTGGCTCC 0.692000 262 7 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 70886021 70886021 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:70886021G>A uc003tvy.3 + 4 892 c.892G>A c.(892-894)Gag>Aag p.E298K WBSCR17_uc003tvz.3_5'UTR NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 298 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GTACAGCTGGGAGCTGTGGTG 0.597000 181 67 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102498652 102498652 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr14:102498652C>T uc001yks.2 + 51 10091 c.9927C>T c.(9925-9927)tcC>tcT p.S3309S NM_001376 NP_001367 Q14204 DYHC1_HUMAN Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA. 3309 Stalk (By similarity). G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|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 AGGTGAGGTCCATGGCCAACC 0.582000 257 124 0 0 1 0 0 FERMT2 10979 broad.mit.edu 37 14 53331516 53331516 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr14:53331516G>A uc001xac.3 - 10 1515 c.1329C>T c.(1327-1329)ctC>ctT p.L443L FERMT2_uc001xad.3_Silent_p.L443L|FERMT2_uc001xae.3_Silent_p.L443L|FERMT2_uc001xaf.3_Silent_p.L443L NM_001134999 NP_001128471 Q96AC1 FERM2_HUMAN Homo sapiens fermitin family member 2 (FERMT2), transcript variant 2, mRNA. 443 FERM.|PH. actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytosol|focal adhesion|stress fiber binding ERO1L/FERMT2(2) NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Breast(41;0.0342) CTGGAATCAGGAGTTTAATGT 0.308000 154 91 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105167268 105167268 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chrX:105167268C>T uc004emd.3 + 17 3072 c.2769C>T c.(2767-2769)ctC>ctT p.L923L NRK_uc010npc.1_Silent_p.L591L NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Homo sapiens Nik related kinase (NRK), mRNA. 923 Asp-rich. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 ATGTTGAACTCTATGATGCCA 0.423000 HNSCC(51;0.14) 7 24 0 0 1 0 0 CD300LG 146894 broad.mit.edu 37 17 41939197 41939197 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:41939197C>T uc002iem.3 + 6 986 c.917C>T c.(916-918)gCc>gTc p.A306V NM_145273 NP_660316 Q6UXG3 CLM9_HUMAN Homo sapiens CD300 molecule-like family member g (CD300LG), transcript variant 1, mRNA. 306 apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4) 19 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) CCTTCCCAGGCCCCTGAGGGG 0.607000 37 10 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10363351 10363351 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:10363351C>T uc002gmn.3 - 13 1445 c.1334G>A c.(1333-1335)cGc>cAc p.R445H AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 445 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CTGGTTGATGCGGGTGACCAT 0.478000 393 6 0 0 1 0 0 MIIP 60672 broad.mit.edu 37 1 12089857 12089857 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:12089857C>T uc001ato.2 + 6 1144 c.751C>T c.(751-753)Ccg>Tcg p.P251S NM_021933 NP_068752 Q5JXC2 MIIP_HUMAN Homo sapiens migration and invasion inhibitory protein (MIIP), mRNA. 251 Interaction with IGFBP2. autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 GCGCCTGTTCCCGGTGCCTGT 0.687000 35 15 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53092722 53092722 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr8:53092722C>T uc003xqz.2 - 3 393 c.237G>A c.(235-237)gaG>gaA p.E79E ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.E44E|ST18_uc011lds.1_5'UTR|ST18_uc003xra.2_Silent_p.E79E|ST18_uc003xrb.2_Silent_p.E79E|ST18_uc010lyb.2_Non-coding_Transcript NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 79 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GGCCATCGTCCTCTGTCCTGT 0.537000 238 126 0 0 1 0 0 ACD 65057 broad.mit.edu 37 16 67694231 67694231 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr16:67694231G>A uc002etq.4 - 0 488 c.151C>T c.(151-153)Ctc>Ttc p.L51F ACD_uc002etp.4_Missense_Mutation_p.L51F|ACD_uc002etr.4_Missense_Mutation_p.L51F|ACD_uc010vjt.1_Missense_Mutation_p.L41F|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank NM_001082486 NP_001075955 Q96AP0 ACD_HUMAN Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA. 51 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) GGCCGGAGGAGGAGGCCCCGC 0.741000 52 31 0 0 1 0 0 RPL13AP6 644511 broad.mit.edu 37 10 112696659 112696659 + Silent SNP A G G TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:112696659A>G uc010qrh.1 - 0 355 c.333T>C c.(331-333)ccT>ccC p.P111P SHOC2_uc001kzl.4_Intron|SHOC2_uc009xxx.3_Intron|SHOC2_uc010qrg.2_Intron Homo sapiens ribosomal protein L13a pseudogene 6 (RPL13AP6), non-coding RNA. p.P111P(1) TCTTGTCGTAAGGCGGTGGGA 0.577000 44 6 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117188861 117188861 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:117188861C>T uc003vjd.3 + 9 1508 c.1376C>T c.(1375-1377)tCc>tTc p.S459F CFTR_uc011knq.2_5'UTR NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 459 ABC transporter 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) GTTGCTGGATCCACTGGAGCA 0.393000 Cystic Fibrosis 14 21 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169637340 169637340 + Silent SNP C T T rs151002058 TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:169637340C>T uc003fgd.3 + 2 321 c.54C>T c.(52-54)atC>atT p.I18I SAMD7_uc003fge.3_Silent_p.I18I|SAMD7_uc011bpo.2_5'UTR NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA. 18 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) TCCCACTGATCCCCTCACCAT 0.428000 91 62 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54756800 54756800 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:54756800G>A uc010yer.1 - 8 1492 c.1381C>T c.(1381-1383)Ctg>Ttg p.L461L LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Silent_p.L470L|LILRB5_uc002qez.3_Silent_p.L370L|LILRB5_uc002qex.3_Silent_p.L469L|LILRB5_uc002qfa.1_3'UTR O75023 LIRB5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA. 469 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) aACAGCAGCAGGACGAAGGCC 0.597000 86 35 0 0 1 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15890695 15890695 + RNA SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:15890695C>T uc002nbo.3 - 0 c.104G>A Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA. GCCCGAGGCCCAGCCAGGACA 0.672000 37 19 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29559101 29559101 + Nonsense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:29559101C>T uc002hgg.3 + 24 3591 c.3208C>T c.(3208-3210)Cag>Tag p.Q1070* NF1_uc002hgh.3_Nonsense_Mutation_p.Q1070*|NF1_uc010csn.2_Nonsense_Mutation_p.Q930*|NF1_uc002hgi.1_Nonsense_Mutation_p.Q103* NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 1070 MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AGATTTGGACCAGGCAAGCAT 0.373000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 19 6 0 0 1 0 0 OR13C9 286362 broad.mit.edu 37 9 107380283 107380283 + Missense_Mutation SNP A G G TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:107380283A>G uc011lvr.2 - 0 203 c.203T>C c.(202-204)tTc>tCc p.F68S NM_001001956 NP_001001956 Q8NGT0 O13C9_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA. 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 GATGTCCAAGAAGGAGAGGTT 0.473000 224 5 0 0 1 0 0 WDR96 80217 broad.mit.edu 37 10 105945750 105945750 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:105945750G>A uc001kxw.3 - 14 2108 c.1992C>T c.(1990-1992)atC>atT p.I664I WDR96_uc009xxq.3_5'UTR|WDR96_uc001kxx.4_Silent_p.I665I NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN Homo sapiens WD repeat domain 96 (WDR96), mRNA. 664 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 AAACGTCTCGGATACACAGAA 0.323000 84 26 0 0 1 0 0 CRHR1 1394 broad.mit.edu 37 17 43908304 43908304 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:43908304G>A uc010dap.3 + 8 1120 c.855G>A c.(853-855)gaG>gaA p.E285E CRHR1_uc010wjx.2_Silent_p.E81E|CRHR1_uc002ijp.3_Silent_p.E155E|CRHR1_uc002ijm.3_Silent_p.E256E|CRHR1_uc002ijn.3_Silent_p.E216E|CRHR1_uc010dar.3_Silent_p.E256E|CRHR1_uc010dao.3_Silent_p.E155E|CRHR1_uc010daq.3_Silent_p.E81E|CRHR1_uc021tyu.1_Silent_p.E81E NM_001145146 NP_001138618 P34998 CRFR1_HUMAN Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA. 285 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) ACGACAATGAGAAGTAAGTCA 0.592000 80 33 0 0 1 0 0 TMEM175 84286 broad.mit.edu 37 4 952220 952220 + Missense_Mutation SNP A C C TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr4:952220A>C uc003gbq.3 + 10 1549 c.1451A>C c.(1450-1452)cAc>cCc p.H484P TMEM175_uc003gbs.3_Missense_Mutation_p.H367P|TMEM175_uc003gbt.3_Missense_Mutation_p.H367P|TMEM175_uc003gbr.3_Missense_Mutation_p.H402P NM_032326 NP_115702 Q9BSA9 TM175_HUMAN Homo sapiens transmembrane protein 175 (TMEM175), mRNA. 484 integral to membrane p.H484P(2) NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CGGCCCGAACACCCCCCGCCA 0.736000 29 8 0 0 1 0 0 CTCFL 140690 broad.mit.edu 37 20 56064073 56064073 + RNA SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr20:56064073C>T uc010giu.3 - 3 c.610G>A CTCFL_uc010giv.3_Non-coding_Transcript Q8NI51 CTCFL_HUMAN Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA. DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CTTAGGATCTCCTTTGCCCAT 0.493000 96 25 0 0 1 0 0 PKNOX1 5316 broad.mit.edu 37 21 44450147 44450147 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr21:44450147C>T uc002zcq.1 + 10 1435 c.1247C>T c.(1246-1248)gCg>gTg p.A416V PKNOX1_uc011aex.1_Missense_Mutation_p.A299V NM_004571 NP_004562 P55347 PKNX1_HUMAN Homo sapiens PBX/knotted 1 homeobox 1 (PKNOX1), mRNA. 416 sequence-specific DNA binding cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1) 22 GAGGAGGATGCGGGTGCCCTG 0.632000 147 4 0 0 1 0 0 PLXDC1 57125 broad.mit.edu 37 17 37226133 37226133 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:37226133G>A uc002hrg.2 - 12 1571 c.1359C>T c.(1357-1359)tcC>tcT p.S453S LOC100131347_uc002hre.1_Intron|LOC100131347_uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Silent_p.S149S|PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript NM_020405 NP_065138 Q8IUK5 PXDC1_HUMAN Homo sapiens plexin domain containing 1 (PLXDC1), mRNA. 453 angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 GCGCAGCATTGGATGTGGGGT 0.617000 OREG0024368 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 84 29 0 0 1 0 0 PROM2 150696 broad.mit.edu 37 2 95944499 95944499 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:95944499C>T uc002suk.3 + 8 1214 c.1081C>T c.(1081-1083)Ctg>Ttg p.L361L PROM2_uc002suh.2_Silent_p.L361L|PROM2_uc002sui.3_Silent_p.L361L|PROM2_uc002suj.3_Silent_p.L15L|PROM2_uc002sul.3_5'UTR NM_001165977 NP_653308 Q8N271 PROM2_HUMAN Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA. 361 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 CCTTCCAGCCCTGGCTGCCAT 0.632000 96 46 0 0 1 0 0 CCDC67 159989 broad.mit.edu 37 11 93127684 93127684 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:93127684G>A uc001pdq.3 + 9 1201 c.1101G>A c.(1099-1101)agG>agA p.R367R CCDC67_uc001pdo.1_Silent_p.R367R|CCDC67_uc001pdp.3_Silent_p.R367R NM_181645 NP_857596 Q05D60 CCD67_HUMAN Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA. 367 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) AAAGAATGAGGAATGAAATCT 0.398000 12 11 0 0 1 0 0 KIAA0930 23313 broad.mit.edu 37 22 45593792 45593792 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr22:45593792G>A uc003bfv.1 - 7 1266 c.1080C>T c.(1078-1080)tcC>tcT p.S360S KIAA0930_uc003bfx.1_Silent_p.S351S|KIAA0930_uc010gzw.1_Silent_p.S203S|KIAA0930_uc003bfw.1_Silent_p.S356S|KIAA0930_uc010gzx.2_Silent_p.S333S NM_001009880 NP_001009880 Q6ICG6 K0930_HUMAN Homo sapiens KIAA0930 (KIAA0930), transcript variant 2, mRNA. 351 protein binding endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1) 15 TGCCCGACAGGGACCGAGACC 0.607000 114 35 0 0 1 0 0 ZDHHC2 51201 broad.mit.edu 37 8 17055149 17055149 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr8:17055149C>T uc003wxe.3 + 4 829 c.432C>T c.(430-432)tcC>tcT p.S144S NM_016353 NP_057437 Q9UIJ5 ZDHC2_HUMAN Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA. 144 integral to membrane acyltransferase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1) 8 Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244) ATCACTGCTCCGTCTGTGATA 0.388000 187 86 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138030223 138030223 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:138030223C>T uc002tva.1 + 9 2294 c.2294C>T c.(2293-2295)cCt>cTt p.P765L THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.P655L NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TCCTTGTGTCCTGTATATCGG 0.378000 21 14 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7583283 7583283 + Missense_Mutation SNP A G G TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:7583283A>G uc003mxp.1 + 23 6067 c.5788A>G c.(5788-5790)Aca>Gca p.T1930A DSP_uc003mxq.1_Missense_Mutation_p.T1331A|DSP_uc021yle.1_Missense_Mutation_p.T1487A NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 1930 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) ACAGTTAGAAACAGAACGCTC 0.507000 155 57 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108778663 108778663 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:108778663C>T uc003dxl.3 - 11 1108 c.1021G>A c.(1021-1023)Gag>Aag p.E341K MORC1_uc011bhn.2_Missense_Mutation_p.E341K NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 341 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 CTTTGTTTCTCTTTAAGATTC 0.368000 32 13 0 0 1 0 0 PER3 8863 broad.mit.edu 37 1 7848279 7848279 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:7848279C>T uc001aop.3 + 3 789 c.565C>T c.(565-567)Cct>Tct p.P189S PER3_uc009vmg.1_Missense_Mutation_p.P189S|PER3_uc009vmh.1_Missense_Mutation_p.P189S|PER3_uc001aoo.3_Missense_Mutation_p.P189S|PER3_uc010nzw.2_5'UTR|PER3_uc001aon.3_Missense_Mutation_p.P189S NM_016831 NP_058515 P56645 PER3_HUMAN Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA. 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) AGCTCAGCTTCCTTTCTGGAA 0.453000 89 47 0 0 1 0 0 BLM 641 broad.mit.edu 37 15 91308570 91308570 + Missense_Mutation SNP C T T rs146077918 byFrequency TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr15:91308570C>T uc002bpr.3 + 8 2216 c.2119C>T c.(2119-2121)Cct>Tct p.P707S BLM_uc010uqh.2_Missense_Mutation_p.P707S|BLM_uc010uqi.2_Missense_Mutation_p.P332S|BLM_uc010bnx.3_Missense_Mutation_p.P707S NM_000057 NP_000048 P54132 BLM_HUMAN Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA. 707 Helicase ATP-binding. G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray PML body|cytoplasm|lateral element|nuclear matrix|nucleolus ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) CTGTGTTTCTCCTGGGGTCAC 0.393000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 82 32 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993479 140993479 + Nonsense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chrX:140993479C>T uc004fbt.3 + 3 613 c.289C>T c.(289-291)Cag>Tag p.Q97* MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'Flank NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 97 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GTCTCCTCTCCAGAATTCTCA 0.572000 HNSCC(15;0.026) 48 88 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55221397 55221397 + RNA SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:55221397G>A uc002qgs.1 + 0 c.1797G>A LILRP2_uc002qgt.1_Non-coding_Transcript Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA. CCCCTGGGGAGAATCTGACCC 0.627000 52 41 0 0 1 0 0 SLC52A3 113278 broad.mit.edu 37 20 742399 742399 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr20:742399C>T uc002wed.4 - 3 1482 c.1143G>A c.(1141-1143)gcG>gcA p.A381A SLC52A3_uc002wee.2_Silent_p.A381A NM_033409 NP_212134 Q9NQ40 RFT2_HUMAN Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA. 381 sensory perception of sound integral to plasma membrane riboflavin transporter activity GGCTCATCACCGCCATGGCCA 0.642000 61 32 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3344764 3344764 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr4:3344764C>T uc003ggw.3 + 2 2886 c.1982C>T c.(1981-1983)tCc>tTc p.S661F RGS12_uc003ggu.2_Missense_Mutation_p.S661F|RGS12_uc010ics.1_5'UTR|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.S661F|RGS12_uc003ggy.1_Missense_Mutation_p.S59F|RGS12_uc003ggx.1_Missense_Mutation_p.S661F NM_198229 NP_937872 O14924 RGS12_HUMAN Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA. 661 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) ATCACTCGCTCCCTTGATGAT 0.428000 25 28 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212578266 212578266 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:212578266G>A uc002veg.1 - 7 1089 c.991C>T c.(991-993)Cca>Tca p.P331S ERBB4_uc002veh.1_Missense_Mutation_p.P331S|ERBB4_uc010zji.1_Missense_Mutation_p.P331S|ERBB4_uc010zjj.1_Missense_Mutation_p.P331S|ERBB4_uc010fut.1_Missense_Mutation_p.P331S NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 331 Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TCACCTTTTGGGCAAATGTCA 0.378000 TSP Lung(8;0.080) 34 22 0 0 1 0 0 SLC35F3 148641 broad.mit.edu 37 1 234454596 234454596 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:234454596C>T uc001hvy.1 + 5 1199 c.1054C>T c.(1054-1056)Cct>Tct p.P352S SLC35F3_uc001hwa.1_Missense_Mutation_p.P283S NM_173508 NP_775779 Q8IY50 S35F3_HUMAN Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA. 283 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) CACCTGCATTCCTATTATCCT 0.418000 160 108 0 0 1 0 0 ZFP30 22835 broad.mit.edu 37 19 38126129 38126129 + Missense_Mutation SNP A T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:38126129A>T uc002ogv.1 - 5 1829 c.1313T>A c.(1312-1314)tTt>tAt p.F438Y ZFP30_uc002ogw.1_Missense_Mutation_p.F438Y|ZFP30_uc002ogx.1_Missense_Mutation_p.F438Y|ZFP30_uc010xtt.1_Missense_Mutation_p.F437Y NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA. 438 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTTACACTTAAAGGGTTTCTC 0.383000 87 4 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238274614 238274614 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:238274614C>T uc002vwl.2 - 11 5850 c.5565G>A c.(5563-5565)caG>caA p.Q1855Q COL6A3_uc002vwo.2_Silent_p.Q1649Q|COL6A3_uc010znj.1_Silent_p.Q1248Q NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 1855 Nonhelical region.|VWFA 10. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CGAAGCCCTTCTGGGCCACAA 0.537000 171 100 0 0 1 0 0 HRG 3273 broad.mit.edu 37 3 186395478 186395478 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:186395478C>T uc003fqq.3 + 6 1407 c.1384C>T c.(1384-1386)Cct>Tct p.P462S NM_000412 NP_000403 P04196 HRG_HUMAN Homo sapiens histidine-rich glycoprotein (HRG), mRNA. 462 His/Pro-rich (HRR). fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) GTACCGACTCCCTCCTCTAAG 0.557000 128 55 0 0 1 0 0 PACSIN1 29993 broad.mit.edu 37 6 34499504 34499504 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:34499504C>T uc003ojo.3 + 8 1423 c.1165C>T c.(1165-1167)Cgc>Tgc p.R389C PACSIN1_uc003ojp.3_Missense_Mutation_p.R389C NM_020804 NP_065855 Q9BY11 PACN1_HUMAN Homo sapiens protein kinase C and casein kinase substrate in neurons 1 (PACSIN1), transcript variant 1, mRNA. 389 SH3. endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 CAAGGGAGTGCGCGTGCGGGC 0.652000 605 6 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198721860 198721860 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:198721860G>A uc001gur.1 + 30 3642 c.3462G>A c.(3460-3462)ggG>ggA p.G1154G PTPRC_uc001gut.1_Silent_p.G993G NM_002838 NP_002829 P08575 PTPRC_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA. 1154 Tyrosine-protein phosphatase 2. B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 CCTCTGAAGGGAACAAGCATC 0.448000 54 30 0 0 1 0 0 VPS8 23355 broad.mit.edu 37 3 184700355 184700355 + Splice_Site SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:184700355C>T uc021xik.1 + 40 3509 c.3421_splice c.e40-1 p.A1141_splice VPS8_uc003fpb.1_Splice_Site_p.A1139_splice|VPS8_uc010hyd.1_Splice_Site_p.A1049_splice|VPS8_uc010hye.1_Splice_Site_p.A568_splice NM_001009921 NP_001009921 Q8N3P4 VPS8_HUMAN Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA. 1141 zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) ACATTATAGGCACTTTGGTTT 0.373000 63 24 0 0 1 0 0 GALNT6 11226 broad.mit.edu 37 12 51752996 51752996 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:51752996G>A uc001ryk.2 - 6 1513 c.1288C>T c.(1288-1290)Cgc>Tgc p.R430C GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.R430C|GALNT6_uc001ryj.1_5'UTR NM_007210 NP_009141 Q8NCL4 GALT6_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA. 430 protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TCTGCCAGGCGCACTTGATTG 0.542000 558 6 0 0 1 0 0 FABP6 2172 broad.mit.edu 37 5 159659148 159659148 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:159659148C>T uc003lya.1 + 1 239 c.111C>T c.(109-111)atC>atT p.I37I FABP6_uc003lxx.1_Silent_p.I86I|FABP6_uc003lxz.1_Silent_p.I86I|HI423497_uc021ygz.1_Non-coding_Transcript NM_001445 NP_001436 P51161 FABP6_HUMAN Homo sapiens fatty acid binding protein 6, ileal (FABP6), transcript variant 2, mRNA. 37 bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation cytosol transporter activity breast(1)|kidney(1)|large_intestine(1)|lung(2) 5 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACTTCAAGATCGTCACGGAGG 0.542000 42 19 0 0 1 0 0 VRTN 55237 broad.mit.edu 37 14 74825297 74825297 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr14:74825297C>T uc021rwl.1 + 0 1811 c.1811C>T c.(1810-1812)tCc>tTc p.S604F VRTN_uc001xpw.4_Missense_Mutation_p.S604F NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA. 604 transposition, DNA-mediated DNA binding|transposase activity p.S604S(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 GGAGGGCCTTCCAGAGAGGGG 0.662000 90 56 0 0 1 0 0 SPRR1B 6699 broad.mit.edu 37 1 153005005 153005005 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:153005005C>T uc001fba.3 + 1 248 c.184C>T c.(184-186)Cca>Tca p.P62S SPRR1B_uc021ozp.1_Missense_Mutation_p.P62S NM_003125 NP_003116 P22528 SPR1B_HUMAN Homo sapiens small proline-rich protein 1B (SPRR1B), mRNA. 62 6 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity p.C41_P64delCHPKVPEPCHPKVPEPCQPKVPEP(2) breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2) 9 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCCCAAGGTTCCAGAGCCATG 0.617000 214 95 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547135 132547135 + Silent SNP G A A rs144787206 byFrequency TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:132547135G>A uc001ujn.3 + 46 8375 c.8223G>A c.(8221-8223)caG>caA p.Q2741Q EP400_uc021rgq.1_Silent_p.Q2740Q|EP400_uc001ujm.3_Silent_p.Q2660Q|EP400_uc001ujp.3_5'UTR NM_015409 NP_056224 Q96L91 EP400_HUMAN Homo sapiens E1A binding protein p400 (EP400), mRNA. 2777 Interaction with ZNF42 (By similarity). histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(3) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacagcagc 0.592000 132 5 0 0 1 0 0 PTPN11 5781 broad.mit.edu 37 12 112926248 112926248 + Splice_Site SNP G A A rs121918468 TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:112926248G>A uc001ttx.3 + 12 1760 c.1380_splice c.e12-1 p.S460_splice NM_002834 NP_002825 Q06124 PTN11_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA. 464 Tyrosine-protein phosphatase. T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3) 451 TGCCCGCAGTGCTGGAATTGG 0.453000 Mis """JMML, AML, MDS""" Noonan Syndrome Noonan syndrome 60 118 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106968230 106968230 + Silent SNP A C C TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:106968230A>C uc003prh.3 + 1 2835 c.1923A>C c.(1921-1923)acA>acC p.T641T NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN Homo sapiens absent in melanoma 1 (AIM1), mRNA. 641 sugar binding p.R640K(1) breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) GCAGCAGAACACCCCTGATGG 0.527000 106 50 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73072215 73072215 + RNA SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chrX:73072215G>A uc004ebm.1 - 0 c.374C>T Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA. CAGCCCCGATGGGCAAAATAT 0.398000 2 17 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176709333 176709333 + Splice_Site SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:176709333G>A uc001gkz.3 + 14 5315 c.4151_splice c.e14+1 p.S1384_splice PAPPA2_uc009www.3_Splice_Site NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1384 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AGGGACAGAGGTACAAACTTC 0.453000 33 17 0 0 1 0 0 ZFP30 22835 broad.mit.edu 37 19 38126125 38126125 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:38126125C>T uc002ogv.1 - 5 1833 c.1317G>A c.(1315-1317)aaG>aaA p.K439K ZFP30_uc002ogw.1_Silent_p.K439K|ZFP30_uc002ogx.1_Silent_p.K439K|ZFP30_uc010xtt.1_Silent_p.K438K NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA. 439 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATTCCTTACACTTAAAGGGTT 0.388000 87 4 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158585110 158585110 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:158585110G>A uc001fst.1 - 47 6883 c.6684C>T c.(6682-6684)atC>atT p.I2228I NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 2228 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 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) TGATATCAAGGATCAGAGCGT 0.507000 256 128 0 0 1 0 0 NAB2 4665 broad.mit.edu 37 12 57484943 57484943 + Missense_Mutation SNP T C C TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:57484943T>C uc001smz.3 + 1 497 c.119T>C c.(118-120)cTg>cCg p.L40P NM_005967 NP_005958 Q15742 NAB2_HUMAN Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA. 40 NCD1. cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 CCTCGGACGCTGGGGGAGCTG 0.637000 141 70 0 0 1 0 0 USP20 10868 broad.mit.edu 37 9 132638502 132638502 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:132638502C>T uc004bys.2 + 21 2605 c.2394C>T c.(2392-2394)atC>atT p.I798I USP20_uc004byr.2_Silent_p.I798I|USP20_uc004byt.1_Silent_p.I798I NM_001110303 NP_006667 Q9Y2K6 UBP20_HUMAN Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA. 798 DUSP 2. endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1) 11 Ovarian(14;0.00556) GGATCGAGATCGACACCTTCA 0.667000 33 16 0 0 1 0 0 IGSF9 57549 broad.mit.edu 37 1 159900109 159900109 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:159900109G>A uc001fur.2 - 14 2132 c.1934C>T c.(1933-1935)cCc>cTc p.P645L IGSF9_uc001fuq.2_Missense_Mutation_p.P629L|IGSF9_uc001fup.2_5'UTR NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA. 645 Fibronectin type-III 2. cell junction|integral to membrane|synapse p.R645W(1) central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) CAGCTCTGGGGGATCCCAATG 0.672000 225 88 0 0 1 0 0 LOC440040 440040 broad.mit.edu 37 11 49598157 49598157 + Silent SNP G T T rs149610491 by1000genomes TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:49598157G>T uc010rhy.2 + 1 748 c.270G>T c.(268-270)tcG>tcT p.S90S LOC440040_uc009ymb.3_Silent_p.S90S Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA. TCATTTCTTCGGAAGAGGAAG 0.532000 34 9 3.27435e-08 3.30359e-08 1 1 0 BMP2K 55589 broad.mit.edu 37 4 79782555 79782555 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr4:79782555C>T uc003hlk.3 + 8 1166 c.1000C>T c.(1000-1002)Cct>Tct p.P334S BMP2K_uc010ijl.1_Non-coding_Transcript|BMP2K_uc003hlj.3_Missense_Mutation_p.P334S NM_198892 NP_942595 Q9NSY1 BMP2K_HUMAN Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA. 334 nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 TTCTTCTATTCCTTCAGCTCT 0.338000 21 11 0 0 1 0 0 CFHR1 3078 broad.mit.edu 37 1 196795969 196795969 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:196795969C>T uc001gtn.3 + 2 378 c.264C>T c.(262-264)ttC>ttT p.F88F CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Intron NM_002113 NP_002104 Q03591 FHR1_HUMAN Homo sapiens complement factor H-related 1 (CFHR1), mRNA. 88 Sushi 2. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 GACTGTGTTTCTTTCCTTTTG 0.348000 96 43 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39052033 39052033 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:39052033G>A uc002oit.3 + 89 12693 c.12563G>A c.(12562-12564)cGc>cAc p.R4188H RYR1_uc002oiu.3_Missense_Mutation_p.R4183H|RYR1_uc002oiv.1_Missense_Mutation_p.R1097H NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 4188 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCGTCACGCCGCATCGAGCGC 0.652000 159 4 0 0 1 0 0 POLR3A 11128 broad.mit.edu 37 10 79769642 79769642 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:79769642G>A uc001jzn.3 - 12 1883 c.1750C>T c.(1750-1752)Cca>Tca p.P584S NM_007055 NP_008986 O14802 RPC1_HUMAN Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA. 584 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) GTAGGCGGTGGGAGGCGAACT 0.483000 80 46 0 0 1 0 0 SERPINB3 6317 broad.mit.edu 37 18 61309021 61309021 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr18:61309021G>A uc002ljf.3 - 3 410 c.324C>T c.(322-324)ttC>ttT p.F108F SERPINB3_uc002lje.3_Silent_p.F108F|SERPINB3_uc002ljg.3_Intron NM_002974 NP_002965 P29508 SPB3_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA. 108 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 TCTTTTCTCCGAAGAGCTTGT 0.413000 191 97 0 0 1 0 0 PRMT8 56341 broad.mit.edu 37 12 3649787 3649787 + Missense_Mutation SNP T C C TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:3649787T>C uc001qmf.3 + 1 458 c.91T>C c.(91-93)Tcc>Ccc p.S31P PRMT8_uc009zed.3_Missense_Mutation_p.S22P|PRMT8_uc009zee.1_Non-coding_Transcript NM_019854 NP_062828 Q9NR22 ANM8_HUMAN Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA. 31 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CAGCCCCCCCTCCCAGCCCCC 0.652000 164 13 0 0 1 0 0 MMP2 4313 broad.mit.edu 37 16 55516975 55516975 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr16:55516975G>A uc002ehz.4 + 1 619 c.308G>A c.(307-309)gGc>gAc p.G103D MMP2_uc010vhd.2_Missense_Mutation_p.G27D|MMP2_uc010ccc.3_Missense_Mutation_p.G53D NM_004530 NP_004521 P08253 MMP2_HUMAN Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA. 103 angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) CCACGCTGCGGCAACCCAGAT 0.557000 202 5 0 0 1 0 0 ZBTB38 253461 broad.mit.edu 37 3 141164053 141164053 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:141164053G>A uc010hup.3 + 1 2873 c.2826G>A c.(2824-2826)aaG>aaA p.K942K ZBTB38_uc003etw.3_Silent_p.K941K|ZBTB38_uc010hun.3_Silent_p.K938K|ZBTB38_uc010huo.3_Silent_p.K941K|ZBTB38_uc003ety.3_Silent_p.K941K|ZBTB38_uc021xes.1_Silent_p.K941K NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA. 941 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 ACTGGAGGAAGGAGCACGGAA 0.483000 51 28 0 0 1 0 0 OR4K17 390436 broad.mit.edu 37 14 20585719 20585719 + Nonsense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr14:20585719C>T uc001vwo.1 + 0 154 c.154C>T c.(154-156)Cag>Tag p.Q52* NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA. 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S51Y(1) kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) GACCAGCTCCCAGGATGTAGA 0.433000 260 120 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133141924 133141924 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr8:133141924G>A uc003ytj.3 - 14 2429 c.2204C>T c.(2203-2205)cCt>cTt p.P735L KCNQ3_uc003yti.3_Missense_Mutation_p.P615L|KCNQ3_uc010mdt.3_Missense_Mutation_p.P723L NM_004519 NP_004510 O43525 KCNQ3_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA. 735 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TGCTGAGGAAGGAGGAGTTGC 0.577000 42 24 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71199970 71199970 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr14:71199970C>T uc001xmm.3 - 10 2116 c.2116G>A c.(2116-2118)Gga>Aga p.G706R MAP3K9_uc010ttk.2_Missense_Mutation_p.G434R|MAP3K9_uc001xmk.3_Missense_Mutation_p.G439R|MAP3K9_uc001xml.3_Missense_Mutation_p.G720R NM_033141 NP_149132 P80192 M3K9_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA. 706 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CCATCCTCTCCACGAGGGAAT 0.592000 86 31 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130877893 130877893 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:130877893G>A uc010fmh.2 - 2 596 c.196C>T c.(196-198)Cgc>Tgc p.R66C NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA. 66 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 AAGCAGTGGCGGCACCACTTG 0.602000 598 6 0 0 1 0 0 MTERFD1 51001 broad.mit.edu 37 8 97258136 97258136 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr8:97258136G>A uc003yhs.1 - 5 927 c.849C>T c.(847-849)ctC>ctT p.L283L MTERFD1_uc003yhr.1_Silent_p.L162L|MTERFD1_uc010mbd.1_Silent_p.L283L NM_015942 NP_057026 Q96E29 MTER1_HUMAN Homo sapiens MTERF domain containing 1 (MTERFD1), nuclear gene encoding mitochondrial protein, mRNA. 283 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion transcription regulatory region DNA binding endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 24 Breast(36;5.16e-05) GCAGCCTTGGGAGACGAACTA 0.358000 87 49 0 0 1 0 0 SPOCK3 50859 broad.mit.edu 37 4 167713375 167713375 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr4:167713375C>T uc011cjq.1 - 5 748 c.691G>A c.(691-693)Gaa>Aaa p.E231K SPOCK3_uc021xuf.1_Missense_Mutation_p.E222K|SPOCK3_uc011cjr.1_Missense_Mutation_p.E102K|SPOCK3_uc003iri.1_Missense_Mutation_p.E222K|SPOCK3_uc011cjs.1_Missense_Mutation_p.E171K|SPOCK3_uc003irj.1_Missense_Mutation_p.E219K|SPOCK3_uc011cjt.1_Missense_Mutation_p.E130K|SPOCK3_uc011cjp.2_Intron|SPOCK3_uc011cju.1_Missense_Mutation_p.E126K|SPOCK3_uc011cjv.1_Missense_Mutation_p.E124K|SPOCK3_uc003irk.4_Missense_Mutation_p.E219K NM_001204353 NP_001191282 Q9BQ16 TICN3_HUMAN Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA. 222 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) CTTCCACTTTCATGAAGGGCC 0.403000 54 27 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38591829 38591829 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:38591829G>A uc002ohk.3 + 5 2501 c.1992G>A c.(1990-1992)aaG>aaA p.K664K NM_015073 NP_055888 O60292 SI1L3_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA. 664 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TCTGCCTGAAGGGCTTCACCA 0.597000 12 8 0 0 1 0 0 GPR114 221188 broad.mit.edu 37 16 57600568 57600568 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr16:57600568G>A uc002ely.3 + 6 1127 c.604G>A c.(604-606)Ggg>Agg p.G202R GPR114_uc002elx.4_Missense_Mutation_p.G202R|GPR114_uc010vhr.2_Missense_Mutation_p.G202R NM_153837 NP_722579 Q8IZF4 GP114_HUMAN Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA. 202 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1) 23 ACAGCCCTGGGGGGGCTGGAG 0.602000 132 65 0 0 1 0 0 OR4X2 119764 broad.mit.edu 37 11 48266817 48266817 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:48266817C>T uc001ngs.1 + 0 162 c.162C>T c.(160-162)ttC>ttT p.F54F NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA. 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 TGTACTTCTTCCTCAGCTACC 0.488000 207 69 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196695661 196695661 + Silent SNP G A A rs56035657 by1000genomes TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:196695661G>A uc001gtj.4 + 12 2175 c.1935G>A c.(1933-1935)acG>acA p.T645T CFH_uc021pgt.1_Intron NM_000186 NP_000177 P08603 CFAH_HUMAN Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 645 Sushi 11. complement activation, alternative pathway extracellular space p.T645T(2) NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 AGGAAAAAACGAAAGAAGAAT 0.353000 61 46 0 0 1 0 0 DLG3 1741 broad.mit.edu 37 X 69670040 69670040 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chrX:69670040G>A uc004dyi.2 + 4 1072 c.725G>A c.(724-726)gGg>gAg p.G242E U4_uc022byp.1_5'Flank|DLG3_uc004dyj.2_5'Flank NM_021120 NP_066943 Q92796 DLG3_HUMAN Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA. 242 PDZ 2. axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1) 22 Renal(35;0.156) AGCATTGCTGGGGGTATTGGC 0.562000 11 14 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140256320 140256320 + Silent SNP T C C TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:140256320T>C uc003lic.2 + 0 1390 c.1263T>C c.(1261-1263)taT>taC p.Y421Y PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.Y421Y NM_018903 NP_061726 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA. 435 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCGGCCTATGAGCTGGTGG 0.622000 343 145 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92086775 92086775 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:92086775G>A uc001pdj.4 + 0 1514 c.1497G>A c.(1495-1497)aaG>aaA p.K499K NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 499 Cadherin 5. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTTCTGATAAGGATAAAGGAG 0.403000 TCGA Ovarian(4;0.039) 16 41 0 0 1 0 0 DOCK7 85440 broad.mit.edu 37 1 62941448 62941448 + Missense_Mutation SNP T C C TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:62941448T>C uc001daq.3 - 44 5892 c.5858A>G c.(5857-5859)aAg>aGg p.K1953R DOCK7_uc001dan.3_Missense_Mutation_p.K1816R|DOCK7_uc001dao.3_Missense_Mutation_p.K1814R|DOCK7_uc001dap.3_Missense_Mutation_p.K1933R|DOCK7_uc001dam.3_Missense_Mutation_p.K1135R|DOCK7_uc010oov.1_Missense_Mutation_p.K694R|DOCK7_uc001dar.1_Missense_Mutation_p.K127R NM_033407 NP_212132 Q96N67 DOCK7_HUMAN Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA. 1964 DHR-2. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 CAGAATGGTCTTCCTTTTGAA 0.388000 129 86 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A G G rs35873108 byFrequency TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:132547138A>G uc001ujn.3 + 46 8378 c.8226A>G c.(8224-8226)caA>caG p.Q2742Q EP400_uc021rgq.1_Silent_p.Q2741Q|EP400_uc001ujm.3_Silent_p.Q2661Q|EP400_uc001ujp.3_5'UTR NM_015409 NP_056224 Q96L91 EP400_HUMAN Homo sapiens E1A binding protein p400 (EP400), mRNA. 2778 Interaction with ZNF42 (By similarity). histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(6)|p.Q2742Q(3) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcaacagcagcagc 0.602000 129 4 0 0 1 0 0 CA4 762 broad.mit.edu 37 17 58234039 58234039 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:58234039G>A uc002iym.4 + 2 325 c.231G>A c.(229-231)aaG>aaA p.K77K CA4_uc010wou.2_Non-coding_Transcript NM_000717 NP_000708 P22748 CAH4_HUMAN Homo sapiens carbonic anhydrase IV (CA4), mRNA. 77 bicarbonate transport|one-carbon metabolic process ER-Golgi intermediate compartment|anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane carbonate dehydratase activity|protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(5)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.83e-12)|all cancers(12;6.83e-11) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) GCTACGATAAGAAGCAAACGT 0.567000 116 63 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120764304 120764304 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:120764304C>T uc003eec.4 + 4 532 c.392C>T c.(391-393)tCa>tTa p.S131L STXBP5L_uc011bji.2_Missense_Mutation_p.S131L NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 131 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AGTGCAAGTTCAGATGATACA 0.348000 162 86 0 0 1 0 0 MLL2 8085 broad.mit.edu 37 12 49442984 49442984 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:49442984G>A uc001rta.4 - 11 3924 c.3924C>T c.(3922-3924)ttC>ttT p.F1308F NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 1308 Arg-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 GTCTTCCTGGGAAACTGCTGC 0.537000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 20 4 0 0 1 0 0 CT47B1 643311 broad.mit.edu 37 X 120009207 120009207 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chrX:120009207G>A uc011muc.2 - 0 573 c.318C>T c.(316-318)ttC>ttT p.F106F NM_001145718 NP_001139190 P0C2W7 CT47B_HUMAN Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA. 106 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 CCGCCAAGTCGAAGTTGGCCG 0.677000 11 32 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140581716 140581716 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:140581716G>A uc003liy.3 + 0 2369 c.2369G>A c.(2368-2370)cGa>cAa p.R790Q NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN Homo sapiens protocadherin beta 11 (PCDHB11), mRNA. 790 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCACCTTTCGAAATAGCTTT 0.318000 41 22 0 0 1 0 0 EIF4E 1977 broad.mit.edu 37 4 99808328 99808328 + Missense_Mutation SNP T A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr4:99808328T>A uc003hue.2 - 4 1824 c.301A>T c.(301-303)Atg>Ttg p.M101L EIF4E_uc011cea.1_Missense_Mutation_p.M121L|EIF4E_uc011ceb.1_Missense_Mutation_p.M101L|EIF4E_uc011cec.1_Missense_Mutation_p.M101L NM_001968 NP_001959 P06730 IF4E_HUMAN Homo sapiens eukaryotic translation initiation factor 4E (EIF4E), transcript variant 1, mRNA. 101 G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex RNA cap binding|protein binding|translation initiation factor activity p.M101I(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227) TCTTCCCACATAGGCTCAATA 0.408000 233 107 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29754859 29754859 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:29754859C>T uc002rmy.3 - 3 2028 c.1076G>A c.(1075-1077)gGa>gAa p.G359E NM_004304 NP_004295 Q9UM73 ALK_HUMAN Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA. 359 MAM 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) AATGTACCTTCCAGAGGGCTG 0.587000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 95 50 0 0 1 0 0 ESRRB 2103 broad.mit.edu 37 14 76949074 76949074 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr14:76949074C>T uc001xsr.3 + 6 1130 c.759C>T c.(757-759)gtC>gtT p.V253V ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Silent_p.V253V NM_004452 NP_004443 A2VDJ2 A2VDJ2_HUMAN Homo sapiens estrogen-related receptor beta (ESRRB), mRNA. 253 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) AGCTTGTGGTCATCATTGGCT 0.617000 91 39 0 0 1 0 0 CCNY 219771 broad.mit.edu 37 10 35858073 35858073 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:35858073G>A uc001iyw.4 + 9 1181 c.1001G>A c.(1000-1002)cGg>cAg p.R334Q CCNY_uc001iyu.4_Missense_Mutation_p.R280Q|CCNY_uc001iyv.4_Missense_Mutation_p.R280Q|CCNY_uc001iyx.4_Missense_Mutation_p.R280Q|CCNY_uc009xmb.3_Missense_Mutation_p.R309Q|CCNY_uc010qet.2_Missense_Mutation_p.R201Q NM_145012 NP_859049 Q8ND76 CCNY_HUMAN Homo sapiens cyclin Y (CCNY), transcript variant 1, mRNA. 334 G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane cyclin-dependent protein kinase regulator activity|protein kinase binding cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 8 ACTCTGCCCCGGTGGTCCCCA 0.582000 29 21 0 0 1 0 0 ZNF677 342926 broad.mit.edu 37 19 53747113 53747113 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:53747113G>A uc002qbg.1 - 3 204 c.53C>T c.(52-54)tCt>tTt p.S18F ZNF677_uc002qbf.1_Missense_Mutation_p.S18F|ZNF677_uc002qbh.3_Non-coding_Transcript NM_182609 NP_872415 Q86XU0 ZN677_HUMAN Homo sapiens zinc finger protein 677 (ZNF677), mRNA. 18 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) CTCCTCTTGAGAGAATTCTAT 0.458000 113 39 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186275982 186275982 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:186275982C>T uc001gru.4 + 6 1182 c.1131C>T c.(1129-1131)acC>acT p.T377T MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.T336T|PRG4_uc009wyl.3_Silent_p.T284T|PRG4_uc009wym.3_Silent_p.T243T|PRG4_uc010poo.2_Non-coding_Transcript NM_005807 NP_005798 Q92954 PRG4_HUMAN Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA. 377 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCCCCAAGGAGC 0.637000 310 5 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42079717 42079717 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:42079717G>A uc011kbh.2 - 6 1039 c.948C>T c.(946-948)tcC>tcT p.S316S GLI3_uc011kbg.2_Silent_p.S257S NM_000168 NP_000159 P10071 GLI3_HUMAN Homo sapiens GLI family zinc finger 3 (GLI3), mRNA. 316 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 TCGTGACCAAGGAGTTGGGAG 0.488000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 96 116 0 0 1 0 0 MIA2 117153 broad.mit.edu 37 14 39722043 39722043 + Silent SNP A G G rs142402603 TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr14:39722043A>G uc001wux.3 + 4 1853 c.1659A>G c.(1657-1659)aaA>aaG p.K553K NM_054024 NP_473365 Q96PC5 MIA2_HUMAN Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA. 162 extracellular region NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 31 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) AAAATTCGAAACCATCAGTAG 0.383000 69 33 0 0 1 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1815985 1815985 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr16:1815985C>T uc010uvl.2 + 20 2591 c.2471C>T c.(2470-2472)cCc>cTc p.P824L MAPK8IP3_uc002cmk.3_Missense_Mutation_p.P823L|MAPK8IP3_uc002cml.3_Missense_Mutation_p.P813L|MAPK8IP3_uc021tah.1_Missense_Mutation_p.P817L NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA. 823 vesicle-mediated transport Golgi membrane MAP-kinase scaffold activity|kinesin binding|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 GACTACCCTCCCGGGGAGATG 0.687000 41 23 0 0 1 0 0 NCAM1 4684 broad.mit.edu 37 11 113103514 113103514 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:113103514G>A uc021qqp.1 + 12 1944 c.1572G>A c.(1570-1572)ttG>ttA p.L524L NCAM1_uc001pnp.3_Silent_p.L488L|NCAM1_uc021qqo.1_Silent_p.L488L|NCAM1_uc001pnq.3_Silent_p.L498L|NCAM1_uc001pnr.3_Silent_p.L488L NM_001242607 NP_001229536 P13591 NCAM1_HUMAN Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA. 500 Fibronectin type-III 1. axon guidance|interferon-gamma-mediated signaling pathway Golgi membrane|anchored to membrane|extracellular region|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) AGGAGTCCTTGGAATTCATCC 0.502000 37 49 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20269565 20269565 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr20:20269565G>A uc002wru.3 + 22 3223 c.3109G>A c.(3109-3111)Gga>Aga p.G1037R C20orf26_uc002wrw.3_Intron NM_015585 NP_056400 Q8NHU2 CT026_HUMAN Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA. 1037 p.G1037E(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CATGTACAAGGGAGCCAAGAT 0.512000 28 18 0 0 1 0 0 PITRM1 10531 broad.mit.edu 37 10 3180438 3180438 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:3180438G>A uc009xhv.2 - 25 3081 c.3012C>T c.(3010-3012)gcC>gcT p.A1004A PITRM1_uc001igr.2_3'UTR|PITRM1_uc001igt.2_Silent_p.A1003A|PITRM1_uc010qah.2_Silent_p.A905A|PITRM1_uc001igu.1_Silent_p.A929A|PITRM1_uc010qai.2_Silent_p.A974A NM_001242307 NP_001229236 E7ES23 E7ES23_HUMAN Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 905 proteolysis metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3) 33 TATCGCTCACGGCCAGGAGCT 0.592000 50 27 0 0 1 0 0 SEMA3D 223117 broad.mit.edu 37 7 84628849 84628849 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:84628849G>A uc003uic.3 - 16 2281 c.2241C>T c.(2239-2241)ggC>ggT p.G747G SEMA3D_uc010led.3_Silent_p.G747G|SEMA3D_uc003uib.3_Silent_p.G386G NM_152754 NP_689967 O95025 SEM3D_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA. 747 Arg/Lys-rich (basic). cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 TCCACTTTGGGCCCCCCTTGT 0.498000 103 91 0 0 1 0 0 SPAM1 6677 broad.mit.edu 37 7 123595079 123595079 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:123595079C>T uc003vle.3 + 3 1422 c.983C>T c.(982-984)aCt>aTt p.T328I SPAM1_uc011koa.1_5'UTR|SPAM1_uc003vld.3_Missense_Mutation_p.T328I|SPAM1_uc022aks.1_Missense_Mutation_p.T328I|SPAM1_uc003vlf.4_Missense_Mutation_p.T328I|SPAM1_uc010lku.3_Missense_Mutation_p.T328I NM_003117 NP_003108 P38567 HYALP_HUMAN Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA. 328 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity p.E327K(1) breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) TTTGGCGAAACTGTTGCTCTG 0.368000 281 81 0 0 1 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19363204 19363204 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr8:19363204C>T uc011kyn.2 - 3 1206 c.142G>A c.(142-144)Gcc>Acc p.A48T CSGALNACT1_uc011kyo.2_Missense_Mutation_p.A48T|CSGALNACT1_uc003wzg.3_Non-coding_Transcript|CSGALNACT1_uc011kyp.2_Missense_Mutation_p.A48T|CSGALNACT1_uc003wzh.2_Non-coding_Transcript NM_001130518 NP_060841 Q8TDX6 CGAT1_HUMAN Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1), transcript variant 1, mRNA. 48 UDP-N-acetylgalactosamine metabolic process|UDP-glucuronate metabolic process|anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(111;0.182) GGGCTGTTGGCCCTGGGCAGT 0.622000 119 4 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7760650 7760650 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr16:7760650C>T uc002cys.2 + 15 2085 c.1097C>T c.(1096-1098)gCc>gTc p.A366V RBFOX1_uc002cyt.2_Missense_Mutation_p.A339V|RBFOX1_uc010uyb.1_Missense_Mutation_p.A366V|RBFOX1_uc002cyw.2_3'UTR|RBFOX1_uc002cyy.2_Missense_Mutation_p.A387V|RBFOX1_uc002cyx.2_Intron|RBFOX1_uc010uyc.1_Missense_Mutation_p.A360V NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA. 366 RNA splicing|RNA transport|mRNA processing nucleus|trans-Golgi network RNA binding|nucleotide binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 TTGACTGATGCCAAGACTAGG 0.408000 258 5 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126746621 126746621 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:126746621G>A uc003vlr.2 - 1 967 c.656C>T c.(655-657)tCg>tTg p.S219L GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.S219L|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_5'UTR NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 219 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane p.S219S(3)|p.S219L(3) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AGCCAGTGTCGAAACATAATT 0.493000 HNSCC(24;0.065) 96 42 0 0 1 0 0 X97876 0 broad.mit.edu 37 9 66500833 66500833 + RNA SNP A C C TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:66500833A>C uc004aed.1 + 2 c.926A>C Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA. CCATGAAACCACCTGGTGCCC 0.632000 80 5 0 0 1 0 0 ABCE1 6059 broad.mit.edu 37 4 146029233 146029233 + Nonsense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr4:146029233C>T uc003ijx.3 + 3 696 c.256C>T c.(256-258)Cga>Tga p.R86* ABCE1_uc003ijy.3_Nonsense_Mutation_p.R86*|ABCE1_uc010iot.3_Non-coding_Transcript NM_001040876 NP_002931 P61221 ABCE1_HUMAN Homo sapiens ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1), transcript variant 2, mRNA. 86 ABC transporter 1. RNA catabolic process|interspecies interaction between organisms|response to virus mitochondrion ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3) 18 all_hematologic(180;0.151) AACCACACATCGATATTGTGC 0.333000 84 33 0 0 1 0 0 LTB 4050 broad.mit.edu 37 6 31550151 31550151 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:31550151C>T uc003nuk.3 - 0 52 c.44G>A c.(43-45)gGg>gAg p.G15E LTB_uc003nul.3_Missense_Mutation_p.G15E NM_002341 NP_002332 Q06643 TNFC_HUMAN Homo sapiens lymphotoxin beta (TNF superfamily, member 3) (LTB), transcript variant 1, mRNA. 15 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) GGAACCCCTCCCCTGGAGCCT 0.652000 78 37 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7230884 7230884 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:7230884C>T uc003mxb.3 + 9 3044 c.2552C>T c.(2551-2553)gCt>gTt p.A851V RREB1_uc021yky.1_Missense_Mutation_p.A851V|RREB1_uc003mxc.3_Missense_Mutation_p.A851V|RREB1_uc010jnx.3_Missense_Mutation_p.A851V|RREB1_uc021ykz.1_Missense_Mutation_p.A851V|RREB1_uc021yla.1_Intron NM_001003699 NP_001003699 Q92766 RREB1_HUMAN Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA. 851 Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) AGTGGCTGCGCTGCCCTTGGT 0.701000 27 19 0 0 1 0 0 COLEC12 81035 broad.mit.edu 37 18 334816 334816 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr18:334816C>T uc002kkm.3 - 5 1957 c.1742G>A c.(1741-1743)gGc>gAc p.G581D NM_130386 NP_569057 Q5KU26 COL12_HUMAN Homo sapiens collectin sub-family member 12 (COLEC12), mRNA. 581 Collagen-like 3. carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity p.P580H(1) cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) GCCAGGAGGGCCGGGGGGGCC 0.697000 19 16 0 0 1 0 0 RNASE2 6036 broad.mit.edu 37 14 21424357 21424357 + Nonsense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr14:21424357C>T uc021ros.1 + 0 427 c.427C>T c.(427-429)Caa>Taa p.Q143* RNASE2_uc010aif.2_Nonsense_Mutation_p.Q143*|RNASE2_uc001vyl.1_Nonsense_Mutation_p.Q143* NM_002934 NP_002925 P10153 RNAS2_HUMAN Homo sapiens ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) (RNASE2), mRNA. 143 RNA catabolic process|chemotaxis extracellular region|lysosome nucleic acid binding|pancreatic ribonuclease activity breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 17 all_cancers(95;0.00381) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) CAACAGAGATCAACGACGAGA 0.463000 174 102 0 0 1 0 0 NCR1 9437 broad.mit.edu 37 19 55417934 55417934 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:55417934G>A uc002qib.2 + 2 162 c.124G>A c.(124-126)Gaa>Aaa p.E42K NCR1_uc002qic.2_Missense_Mutation_p.E42K|NCR1_uc002qie.2_Missense_Mutation_p.E42K|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron NM_004829 NP_004820 O76036 NCTR1_HUMAN Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA. 42 Ig-like 1. cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity SWI/SNF complex|integral to plasma membrane receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) GGTTCCAAAGGAAAAGCAAGT 0.547000 120 75 0 0 1 0 0 ZNF165 7718 broad.mit.edu 37 6 28057200 28057200 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:28057200C>T uc021yro.1 + 3 2237 c.1410C>T c.(1408-1410)aaC>aaT p.N470N ZNF165_uc003nkh.3_Silent_p.N470N|ZNF165_uc003nki.4_Silent_p.N470N|ZSCAN12P1_uc003nkj.4_5'Flank NM_003447 NP_003438 P49910 ZN165_HUMAN Homo sapiens zinc finger protein 165 (ZNF165), mRNA. 470 viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AGAGCTCAAACCTTAGTCAAC 0.383000 96 31 0 0 1 0 0 SLC35F3 148641 broad.mit.edu 37 1 234445036 234445036 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:234445036C>T uc001hvy.1 + 3 943 c.798C>T c.(796-798)atC>atT p.I266I SLC35F3_uc001hwa.1_Silent_p.I197I NM_173508 NP_775779 Q8IY50 S35F3_HUMAN Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA. 197 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) TCTCATGGATCGTTCTCAGGG 0.443000 66 26 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47956394 47956394 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:47956394G>A uc003csb.2 - 7 2438 c.1912C>T c.(1912-1914)Ccg>Tcg p.P638S MAP4_uc003csc.3_Missense_Mutation_p.P638S|MAP4_uc011bbf.1_Missense_Mutation_p.P615S|MAP4_uc003csf.3_Missense_Mutation_p.P655S NM_002375 NP_002366 P27816 MAP4_HUMAN Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA. 638 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TCCTCGGCCGGCAAGCTGCAC 0.448000 337 6 0 0 1 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19764458 19764458 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chrX:19764458C>T uc004czm.3 - 2 580 c.264G>A c.(262-264)acG>acA p.T88T SH3KBP1_uc004czl.3_Silent_p.T51T NM_031892 NP_114098 Q96B97 SH3K1_HUMAN Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA. 88 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 TTCTTAAAATCGTTTCAGAAG 0.423000 27 77 0 0 1 0 0 TBX10 347853 broad.mit.edu 37 11 67399810 67399810 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:67399810C>T uc001omp.3 - 6 935 c.847G>A c.(847-849)Ggt>Agt p.G283S NUDT8_uc001omn.3_5'Flank|NUDT8_uc001omo.2_5'Flank NM_005995 NP_005986 O75333 TBX10_HUMAN Homo sapiens T-box 10 (TBX10), mRNA. 283 anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|lung(4)|ovary(1) 7 TCTGTGGCACCCTTCAGCACA 0.622000 179 103 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140255554 140255554 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:140255554C>T uc003lic.2 + 0 624 c.497C>T c.(496-498)tCt>tTt p.S166F PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.S166F NM_018903 NP_061726 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA. 181 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.A165E(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGTAAACTCTCTTTTGACC 0.378000 99 55 0 0 1 0 0 C1orf222 339457 broad.mit.edu 37 1 1854084 1854084 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:1854084C>T uc001aik.3 - 9 1610 c.760G>A c.(760-762)Gag>Aag p.E254K C1orf222_uc001ail.3_Missense_Mutation_p.E254K Q69YW0 CA222_HUMAN RecName: Full=Uncharacterized protein C1orf222; 254 p.V253A(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1) 11 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TGGCCGCGCTCCACGGAGCCC 0.617000 72 39 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51780227 51780227 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr15:51780227G>A uc010ufy.2 - 21 5366 c.5141C>T c.(5140-5142)tCc>tTc p.S1714F DMXL2_uc002abf.3_Missense_Mutation_p.S1714F|DMXL2_uc010bfa.3_Missense_Mutation_p.S1078F NM_001174116 NP_001167587 Q8TDJ6 DMXL2_HUMAN Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA. 1714 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TCCAAGTAAGGAAAAAGCATT 0.373000 236 116 0 0 1 0 0 MBL1P 8512 broad.mit.edu 37 10 81680759 81680759 + RNA SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:81680759G>A uc021puw.1 + 3 c.602G>A MBL1P_uc001kbg.1_Non-coding_Transcript Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) pseudogene (LOC100288974), non-coding RNA. GGGCCCCCAGGAAACACAGGG 0.562000 38 12 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197062342 197062343 + Missense_Mutation DNP CC TT TT TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:197062342_197062343CC>TT uc001gtu.3 - 20 9390_9391 c.9133_9134GG>AA c.(9133-9135)gga>AAa p.G3045K ASPM_uc001gtv.3_Missense_Mutation_p.G1460K|ASPM_uc001gtw.4_Missense_Mutation_p.G893K NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA. 3045 IQ 36. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 GACCTGCCTTCCTTTATATCCT 0.356000 132 60 0 0 1 0 0 RECQL5 9400 broad.mit.edu 37 17 73658887 73658887 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:73658887C>T uc010dgl.3 - 3 652 c.443G>A c.(442-444)cGc>cAc p.R148H RECQL5_uc010dgk.3_Missense_Mutation_p.R121H|RECQL5_uc002joz.4_Missense_Mutation_p.R148H|RECQL5_uc002jpa.4_Missense_Mutation_p.R148H|RECQL5_uc002jpb.2_Missense_Mutation_p.R148H NM_004259 NP_004250 O94762 RECQ5_HUMAN Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA. 148 Helicase ATP-binding. DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding p.R121H(1) breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) CAGCAGGTGGCGGGACACCAG 0.572000 Other identified genes with known or suspected DNA repair function 412 7 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153130375 153130375 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chrX:153130375G>A uc004fjb.3 - 21 3055 c.2947C>T c.(2947-2949)Ctc>Ttc p.L983F L1CAM_uc004fjc.3_Missense_Mutation_p.L983F|L1CAM_uc010nuo.3_Missense_Mutation_p.L978F NM_000425 NP_000416 P32004 L1CAM_HUMAN Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA. 983 Fibronectin type-III 4. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGGGGGCTGAGATCGGTCAGG 0.622000 62 154 0 0 1 0 0 CCDC54 84692 broad.mit.edu 37 3 107097220 107097220 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:107097220C>T uc003dwi.1 + 0 1033 c.786C>T c.(784-786)ttC>ttT p.F262F NM_032600 NP_115989 Q8NEL0 CCD54_HUMAN Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA. 262 NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 GGACATTTTTCCTCAGTGCTA 0.413000 124 62 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131339673 131339673 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:131339673C>T uc004bvl.4 + 7 1115 c.973C>T c.(973-975)Cac>Tac p.H325Y SPTAN1_uc011mbg.2_Missense_Mutation_p.H325Y|SPTAN1_uc011mbh.2_Missense_Mutation_p.H337Y|SPTAN1_uc004bvm.4_Missense_Mutation_p.H325Y|SPTAN1_uc004bvn.4_Missense_Mutation_p.H325Y NM_003127 NP_003118 Q13813 SPTA2_HUMAN Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA. 325 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GCAACAGTCCCACCCTCTGAG 0.507000 102 52 0 0 1 0 0 C9orf69 90120 broad.mit.edu 37 9 139008662 139008662 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:139008662G>A uc004cgx.4 - 1 610 c.159C>T c.(157-159)tgC>tgT p.C53C C9orf69_uc004cgy.2_Non-coding_Transcript NM_152833 NP_690046 Homo sapiens chromosome 9 open reading frame 69 (C9orf69), mRNA. endometrium(1) 1 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06) TGGGAGGCGCGCACGGGCCCG 0.672000 70 4 0 0 1 0 0 PRDM1 639 broad.mit.edu 37 6 106555057 106555057 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:106555057G>A uc003prd.2 + 6 2408 c.2174G>A c.(2173-2175)cGa>cAa p.R725Q PRDM1_uc003pre.3_Missense_Mutation_p.R591Q NM_001198 NP_001189 O75626 PRDM1_HUMAN Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA. 725 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L724L(1) NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) GATCTGACCCGAATCAATGAA 0.532000 """D, N, Mis, F, S""" DLBCL 431 178 0 0 1 0 0 GOT2 2806 broad.mit.edu 37 16 58757768 58757768 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr16:58757768G>A uc002eof.1 - 1 242 c.128C>T c.(127-129)cCc>cTc p.P43L GOT2_uc010vim.1_Missense_Mutation_p.P43L NM_002080 NP_002071 P00505 AATM_HUMAN Homo sapiens glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2), nuclear gene encoding mitochondrial protein, mRNA. 43 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) TCCCAGAATGGGATCTGGAGG 0.448000 128 61 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12979494 12979494 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:12979494G>A uc002mvm.3 + 20 2732 c.2604G>A c.(2602-2604)tcG>tcA p.S868S NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA. 868 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 GCCCACCCTCGAAGGATGGGG 0.577000 221 108 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21526111 21526111 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr18:21526111G>A uc002kuq.3 + 69 9300 c.9214G>A c.(9214-9216)Gtg>Atg p.V3072M LAMA3_uc002kur.3_Missense_Mutation_p.V3016M|LAMA3_uc002kus.4_Missense_Mutation_p.V1463M|LAMA3_uc002kut.4_Missense_Mutation_p.V1407M NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 3072 Laminin G-like 4. 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) TCTGAAGGTGGTGTTTGGCCA 0.433000 171 54 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48703495 48703495 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr15:48703495G>A uc001zwx.2 - 65 8703 c.8308C>T c.(8308-8310)Cac>Tac p.H2770Y FBN1_uc010beo.2_Non-coding_Transcript NM_000138 NP_000129 P35555 FBN1_HUMAN Homo sapiens fibrillin 1 (FBN1), mRNA. 2770 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TTACTGACGTGGGAAATATTG 0.433000 152 80 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10107320 10107320 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:10107320C>T uc002mmq.1 - 11 1395 c.1309G>A c.(1309-1311)Ggc>Agc p.G437S NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 437 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CCCGGTGGGCCTCGGATCCCA 0.642000 61 24 0 0 1 0 0 KRT35 3886 broad.mit.edu 37 17 39633452 39633452 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:39633452G>A uc002hws.3 - 6 1267 c.1224C>T c.(1222-1224)ctC>ctT p.L408L NM_002280 NP_002271 Q92764 KRT35_HUMAN Homo sapiens keratin 35 (KRT35), mRNA. 408 Tail. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) GGTTACAGGGGAGCCTAGAAA 0.488000 78 33 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40955635 40955635 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:40955635C>T uc003jmh.3 + 9 1354 c.1240C>T c.(1240-1242)Cct>Tct p.P414S C7_uc011cpn.1_Non-coding_Transcript NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 414 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GACTAATCTTCCTCAAGTCAT 0.413000 121 51 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201039511 201039511 + Missense_Mutation SNP G C C TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:201039511G>C uc001gvv.3 - 16 2476 c.2249C>G c.(2248-2250)cCt>cGt p.P750R NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 750 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CGGGATCTCAGGCTCATCTTC 0.587000 124 57 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38949597 38949597 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:38949597C>T uc021wvy.1 - 9 1515 c.1316G>A c.(1315-1317)gGa>gAa p.G439E NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 439 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TCTGTCAATTCCCATGGCAAC 0.383000 115 57 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82579419 82579419 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:82579419C>T uc003uhx.2 - 5 10774 c.10485G>A c.(10483-10485)ggG>ggA p.G3495G PCLO_uc003uhv.2_Silent_p.G3495G|PCLO_uc010lec.3_Silent_p.G460G NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3426 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 CACCATATTTCCCTACACGAG 0.458000 143 46 0 0 1 0 0 OR1S2 219958 broad.mit.edu 37 11 57971321 57971321 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:57971321G>A uc010rkb.2 - 0 333 c.333C>T c.(331-333)atC>atT p.I111I NM_001004459 NP_001004459 Q8NGQ3 OR1S2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA. 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C110F(1) endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) ACATCTGTGTGATGCAGCTCT 0.448000 196 82 0 0 1 0 0 OR5B12 390191 broad.mit.edu 37 11 58206953 58206953 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:58206953C>T uc010rkh.2 - 0 694 c.672G>A c.(670-672)atG>atA p.M224I NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA. 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) AGCGCATCTTCATGATGGTGA 0.398000 84 32 0 0 1 0 0 METTL13 51603 broad.mit.edu 37 1 171759716 171759716 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:171759716C>T uc001ghz.3 + 4 1781 c.1434C>T c.(1432-1434)atC>atT p.I478I METTL13_uc001gia.3_Silent_p.I392I|METTL13_uc001gib.3_Silent_p.I322I|METTL13_uc010pml.2_Silent_p.I477I NM_015935 NP_055770 Q8N6R0 MTL13_HUMAN Homo sapiens methyltransferase like 13 (METTL13), transcript variant 1, mRNA. 478 methyltransferase activity|protein binding breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3) 41 AAGCCATGATCGCTGGCCTTG 0.542000 124 57 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96009900 96009900 + Nonsense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:96009900C>T uc004ati.1 + 6 1618 c.1618C>T c.(1618-1620)Cag>Tag p.Q540* WNK2_uc011lud.1_Nonsense_Mutation_p.Q540*|WNK2_uc004atj.3_Nonsense_Mutation_p.Q540*|WNK2_uc004atk.3_Nonsense_Mutation_p.Q177*|WNK2_uc010mrc.1_Nonsense_Mutation_p.Q540*|WNK2_uc010mrd.1_Nonsense_Mutation_p.Q177* NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA. 540 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 GGCCTTGATCCAGTGGCGGCG 0.632000 24 12 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168112925 168112925 + Missense_Mutation SNP A T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:168112925A>T uc010jjg.3 - 30 3763 c.3343T>A c.(3343-3345)Ttc>Atc p.F1115I SLIT3_uc003mab.3_Missense_Mutation_p.F1108I NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 1108 Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGTTCACAGAAGGGTCCACTG 0.592000 33 25 0 0 1 0 0 TMCO7 79613 broad.mit.edu 37 16 69008046 69008046 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr16:69008046C>T uc002ewi.4 + 14 2829 c.2817C>T c.(2815-2817)gtC>gtT p.V939V NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA. 939 integral to membrane binding endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2) 20 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) TCGGGGAAGTCCTTATGCGAA 0.468000 55 21 0 0 1 0 0 AKR1C2 1646 broad.mit.edu 37 10 5040898 5040898 + Silent SNP G A A rs139670873 TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:5040898G>A uc001ihs.3 - 6 902 c.489C>T c.(487-489)atC>atT p.I163I AKR1C3_uc001ihr.3_Intron|AKR1C2_uc009xhy.3_Silent_p.I137I|AKR1C2_uc001iht.3_Silent_p.I163I NM_001354 NP_001345 P52895 AK1C2_HUMAN Homo sapiens aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III) (AKR1C2), transcript variant 1, mRNA. 163 digestion|prostaglandin metabolic process|steroid metabolic process cytoplasm androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity p.I163M(2) breast(1)|large_intestine(5)|lung(3)|skin(1) 10 NADH(DB00157)|Ursodeoxycholic acid(DB01586) TGGACACCCCGATGGACTTGG 0.512000 122 64 0 0 1 0 0 OR52M1 119772 broad.mit.edu 37 11 4566782 4566782 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:4566782C>T uc010qyf.2 + 0 362 c.362C>T c.(361-363)gCt>gTt p.A121V NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA. 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CTTGCCATGGCTTTTGATCGC 0.537000 101 104 0 0 1 0 0 CD300E 342510 broad.mit.edu 37 17 72610074 72610074 + Nonsense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:72610074G>A uc002jlb.2 - 2 624 c.487C>T c.(487-489)Caa>Taa p.Q163* NM_181449 NP_852114 Q496F6 CLM2_HUMAN Homo sapiens CD300e molecule (CD300E), mRNA. 163 integral to membrane|plasma membrane receptor activity breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 19 CCTGAATTTTGGGTCAACACC 0.622000 14 10 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103274180 103274180 + Silent SNP C T T rs143241362 byFrequency TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:103274180C>T uc002tca.3 + 1 589 c.447C>T c.(445-447)atC>atT p.I149I NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA. 149 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TCCCACCCATCGTGCTGGATG 0.468000 303 162 0 0 1 0 0 MED25 81857 broad.mit.edu 37 19 50335387 50335387 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:50335387C>T uc002ppw.2 + 11 1410 c.1347C>T c.(1345-1347)atC>atT p.I449I MED25_uc010ybe.2_Silent_p.I236I|MED25_uc002ppx.1_Silent_p.I230I NM_030973 NP_112235 Q71SY5 MED25_HUMAN Homo sapiens mediator complex subunit 25 (MED25), mRNA. 449 Interaction with CREBBP.|Interaction with VP16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1) 17 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) AGAAGCTGATCATGCAGCTCA 0.687000 58 32 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 247586 247586 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:247586C>T uc001qhw.2 + 3 1057 c.1057C>T c.(1057-1059)Ctg>Ttg p.L353L IQSEC3_uc001qhu.1_Silent_p.L50L|LOC574538_uc001qhv.1_Non-coding_Transcript NM_001170738 NP_001164209 Q9UPP2 IQEC3_HUMAN Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA. 353 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) GCGGATCTCCCTGCGCAAGGT 0.657000 37 18 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78848402 78848402 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:78848402C>T uc004akc.2 + 21 3294 c.2756C>T c.(2755-2757)tCg>tTg p.S919L NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 769 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CGCTGTGTTTCGAACTGCCCC 0.488000 73 26 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 118199316 118199316 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:118199316G>A uc001two.2 - 3 454 c.399C>T c.(397-399)tcC>tcT p.S133S NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 162 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGTCTTGTTTGGAAAGGTTGC 0.547000 55 162 0 0 1 0 0 C9orf152 401546 broad.mit.edu 37 9 112963642 112963642 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:112963642C>T uc011lwk.2 - 1 860 c.306G>A c.(304-306)ctG>ctA p.L102L C9orf152_uc022blq.1_5'Flank NM_001012993 NP_001013011 Q5JTZ5 CI152_HUMAN Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA. 102 NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 CAGCCTCCTCCAGCCTCCCCT 0.577000 68 33 0 0 1 0 0 C7orf58 79974 broad.mit.edu 37 7 120906864 120906864 + Splice_Site SNP T A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:120906864T>A uc003vjq.4 + 20 3080 c.2633_splice c.e20+2 p.R878_splice NM_024913 NP_079189 A4D0V7 CG058_HUMAN Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA. 878 endoplasmic reticulum breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 66 all_neural(327;0.117) TTTGAAGAGGTAAATGTCTGC 0.343000 79 64 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55578989 55578989 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:55578989G>A uc001nhw.1 + 0 47 c.47G>A c.(46-48)gGa>gAa p.G16E NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA. 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G16V(2)|p.L15L(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) ATTCTCCTTGGACTATCAGAT 0.433000 218 131 0 0 1 0 0 IL12RB1 3594 broad.mit.edu 37 19 18197736 18197736 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:18197736G>A uc002nhx.1 - 1 69 c.18C>T c.(16-18)ttC>ttT p.F6F IL12RB1_uc002nhw.1_5'UTR|IL12RB1_uc010xqb.1_5'UTR|IL12RB1_uc002nhy.3_5'UTR NM_005535 NP_005526 P42701 I12R1_HUMAN Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA. 0 cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 TGAGCAAGGAGAAAAGACTGA 0.517000 4 7 0 0 1 0 0 SVOPL 136306 broad.mit.edu 37 7 138314862 138314862 + Silent SNP T C C TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:138314862T>C uc011kqh.2 - 8 795 c.795A>G c.(793-795)aaA>aaG p.K265K SVOPL_uc003vue.3_Silent_p.K113K NM_001139456 NP_001132928 Q8N434 SVOPL_HUMAN Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA. 265 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 ATCTTCCTCTTTTTTCCTGGG 0.373000 70 70 0 0 1 0 0 SERPINB13 5275 broad.mit.edu 37 18 61264304 61264304 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr18:61264304G>A uc010xep.2 + 7 1078 c.910G>A c.(910-912)Gat>Aat p.D304N SERPINB13_uc002ljc.3_Missense_Mutation_p.D295N|SERPINB13_uc002ljd.3_Missense_Mutation_p.D159N|SERPINB13_uc010xeq.2_Missense_Mutation_p.D116N|SERPINB13_uc010xer.2_Missense_Mutation_p.D116N NM_012397 NP_036529 Q9UIV8 SPB13_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA. 295 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 GGACGGTTACGATCTAGAGGC 0.547000 151 80 0 0 1 0 0 RPL10L 140801 broad.mit.edu 37 14 47120657 47120657 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr14:47120657G>A uc001wwg.3 - 0 372 c.283C>T c.(283-285)Cat>Tat p.H95Y NM_080746 NP_542784 Q96L21 RL10L_HUMAN Homo sapiens ribosomal protein L10-like (RPL10L), mRNA. 95 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1) 27 CGGATGACATGGAAGGGATGG 0.547000 84 31 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41682063 41682063 + Nonsense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr4:41682063G>A uc003gvz.4 + 23 3977 c.3560G>A c.(3559-3561)tGg>tAg p.W1187* LIMCH1_uc003gwe.4_Nonsense_Mutation_p.W726*|LIMCH1_uc003gvu.4_Nonsense_Mutation_p.W803*|LIMCH1_uc003gvv.4_Nonsense_Mutation_p.W803*|LIMCH1_uc003gvw.4_Nonsense_Mutation_p.W802*|LIMCH1_uc003gvx.4_Nonsense_Mutation_p.W815*|LIMCH1_uc003gvy.4_Nonsense_Mutation_p.W631*|LIMCH1_uc003gwa.4_Nonsense_Mutation_p.W643*|LIMCH1_uc011byu.2_Nonsense_Mutation_p.W636*|LIMCH1_uc003gwc.4_Nonsense_Mutation_p.W648*|LIMCH1_uc003gwd.4_Nonsense_Mutation_p.W636*|LIMCH1_uc011byv.2_Nonsense_Mutation_p.W553*|LIMCH1_uc011byw.2_Nonsense_Mutation_p.W102* NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA. 803 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 AAAGAAGAGTGGGAAAAGGCC 0.443000 23 7 0 0 1 0 0 CAPN6 827 broad.mit.edu 37 X 110496253 110496253 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chrX:110496253C>T uc004epc.2 - 3 680 c.489G>A c.(487-489)ctG>ctA p.L163L CAPN6_uc011msu.2_5'UTR NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN Homo sapiens calpain 6 (CAPN6), mRNA. 163 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 AAGCTTTTTCCAGCAGAGCAT 0.438000 18 40 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46660483 46660483 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:46660483G>A uc003oyj.3 + 0 4872 c.4618G>A c.(4618-4620)Gat>Aat p.D1540N TDRD6_uc010jze.3_Missense_Mutation_p.D1540N NM_001010870 NP_001010870 O60522 TDRD6_HUMAN Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA. 1540 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) TCAGTTTGCTGATACGGAGAA 0.393000 186 11 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9316310 9316310 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:9316310G>A uc001qvl.3 - 20 2719 c.2690C>T c.(2689-2691)cCt>cTt p.P897L PZP_uc009zgl.3_Intron|PZP_uc010sgo.1_Non-coding_Transcript|PZP_uc009zgm.1_Intron NM_002864 NP_002855 Homo sapiens pregnancy-zone protein (PZP), mRNA. breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 TTTAATCTCAGGGACCTCAAC 0.428000 87 46 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96493188 96493188 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:96493188C>T uc001kjv.4 + 7 1610 c.1284C>T c.(1282-1284)ttC>ttT p.F428F CYP2C19_uc001kjw.4_Silent_p.F369F|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.S32F NM_000772 NP_000763 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA. 428 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TCATGCCTTTCTCAGCAGGTA 0.438000 122 52 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140406895 140406895 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:140406895C>T uc003eto.2 + 2 1577 c.1371C>T c.(1369-1371)atC>atT p.I457I NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN Homo sapiens tripartite motif containing 42 (TRIM42), mRNA. 457 COS. intracellular zinc ion binding p.G456C(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 AGGACGGCATCCAGACCACCT 0.567000 58 26 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139323097 139323097 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr8:139323097G>A uc003yuy.3 - 2 315 c.144C>T c.(142-144)atC>atT p.I48I FAM135B_uc003yux.3_5'UTR|FAM135B_uc003yuz.3_Non-coding_Transcript NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 48 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TCTGCCCAGCGATGGAGGCAC 0.552000 HNSCC(54;0.14) 66 27 0 0 1 0 0 PLLP 51090 broad.mit.edu 37 16 57292408 57292408 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr16:57292408C>T uc002elg.2 - 2 530 c.398G>A c.(397-399)gGc>gAc p.G133D NM_015993 NP_057077 Q9Y342 PLLP_HUMAN Homo sapiens plasmolipin (PLLP), mRNA. 133 MARVEL. integral to membrane ion channel activity endometrium(1)|prostate(1) 2 AGGCCGGGTGCCCCTCAGGGA 0.607000 88 4 0 0 1 0 0 SDR42E1 93517 broad.mit.edu 37 16 82033512 82033512 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr16:82033512C>T uc002fgu.3 - 2 514 c.386G>A c.(385-387)gGa>gAa p.G129E NM_145168 NP_660151 Q8WUS8 D42E1_HUMAN Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA. 129 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 AACTTGACCTCCAAAGATGAC 0.488000 88 66 0 0 1 0 0 IRGQ 126298 broad.mit.edu 37 19 44099324 44099324 + Missense_Mutation SNP A G G TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:44099324A>G uc002oww.2 - 0 285 c.167T>C c.(166-168)cTt>cCt p.L56P IRGQ_uc010eiv.2_Missense_Mutation_p.L56P|ZNF576_uc002owy.2_5'Flank|ZNF576_uc002owz.2_5'Flank|SRRM5_uc002oxb.2_5'Flank NM_001007561 NP_001007562 Q8WZA9 IRGQ_HUMAN Homo sapiens immunity-related GTPase family, Q (IRGQ), mRNA. 56 protein binding endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3) 18 Prostate(69;0.0199) GCCCAGAAAAAGGCCTGGGCC 0.716000 51 3 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18524227 18524227 + Missense_Mutation SNP T A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:18524227T>A uc001rdt.3 + 11 1855 c.1739T>A c.(1738-1740)cTt>cAt p.L580H PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.L621H|PIK3C2G_uc010sic.2_Missense_Mutation_p.L399H NM_004570 NP_004561 O75747 P3C2G_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA. 580 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TGGACTTGTCTTCCACTGTTT 0.363000 32 20 0 0 1 0 0 RIN2 54453 broad.mit.edu 37 20 19955587 19955587 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr20:19955587C>T uc002wro.2 + 7 1214 c.1065C>T c.(1063-1065)tcC>tcT p.S355S RIN2_uc010gcu.2_Intron|RIN2_uc010gcv.2_Silent_p.S100S NM_001242581 NP_001229510 Q8WYP3 RIN2_HUMAN Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA. 306 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 GGACTCGGTCCCCCCCACCCA 0.612000 72 55 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T C C TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr4:71346978T>C uc011cat.2 + 3 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_uc011cau.2_Missense_Mutation_p.S173P|MUC7_uc003hfj.3_Missense_Mutation_p.S173P NM_001145006 NP_689504 Q8TAX7 MUC7_HUMAN Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA. 173 Thr-rich. extracellular region protein binding p.S173P(6) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 373 5 0 0 1 0 0 XRCC6BP1 91419 broad.mit.edu 37 12 58335513 58335513 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:58335513G>A uc001sqp.3 + 0 69 c.29G>A c.(28-30)cGg>cAg p.R10Q NM_033276 NP_150592 Q9Y6H3 ATP23_HUMAN Homo sapiens XRCC6 binding protein 1 (XRCC6BP1), mRNA. 10 double-strand break repair via nonhomologous end joining DNA-dependent protein kinase-DNA ligase 4 complex DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 11 GAgcgccggcggggccccgcg 0.697000 23 10 0 0 1 0 0 MIR1297 100302187 broad.mit.edu 37 13 54886170 54886170 + RNA SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr13:54886170C>T uc021rkb.1 - 0 c.14G>A Homo sapiens microRNA 1297 (MIR1297), microRNA. ATAGATCAACCCTAGAGATAA 0.323000 48 19 0 0 1 0 0 CD33 945 broad.mit.edu 37 19 51742900 51742901 + Missense_Mutation DNP CC TT TT TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:51742900_51742901CC>TT uc002pwa.2 + 6 1092_1093 c.1052_1053CC>TT c.(1051-1053)tcc>tTT p.S351F CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.S224F|CD33_uc010eou.1_Non-coding_Transcript NM_001772 NP_001763 P20138 CD33_HUMAN Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA. 351 cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) ATGAATCCTTCCAAGGACACCT 0.545000 45 15 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128321778 128321778 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:128321778C>T uc002top.3 + 2 122 c.69C>T c.(67-69)gcC>gcT p.A23A NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN Homo sapiens myosin VIIB (MYO7B), mRNA. 23 apical plasma membrane|myosin complex ATP binding|actin binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CCGGCGTGGCCATCGGGGGCA 0.612000 8 4 0 0 1 0 0 SCLT1 132320 broad.mit.edu 37 4 129880893 129880893 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr4:129880893G>A uc003igp.2 - 11 1415 c.909C>T c.(907-909)acC>acT p.T303T SCLT1_uc003ign.2_5'UTR|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron NM_144643 NP_653244 Q96NL6 SCLT1_HUMAN Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA. 303 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 GTGTATTTTCGGTTCTTAATT 0.353000 110 53 0 0 1 0 0 COL13A1 1305 broad.mit.edu 37 10 71697450 71697451 + Missense_Mutation DNP CC AT AT TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:71697450_71697451CC>AT uc001jql.3 + 32 2360_2361 c.1824_1825CC>AT c.(1822-1827)gaccgt>gaATgt p.608_609DR>EC COL13A1_uc021prz.1_Missense_Mutation_p.571_572DR>EC|COL13A1_uc021psa.1_Missense_Mutation_p.536_537DR>EC|COL13A1_uc021psb.1_Missense_Mutation_p.542_543DR>EC|COL13A1_uc001jqk.2_Missense_Mutation_p.586_587DR>EC|COL13A1_uc021psc.1_Missense_Mutation_p.589_590DR>EC|COL13A1_uc021psd.1_Missense_Mutation_p.571_572DR>EC|COL13A1_uc010qjf.2_Missense_Mutation_p.536_537DR>EC|COL13A1_uc021pse.1_Missense_Mutation_p.542_543DR>EC|COL13A1_uc021psf.1_Missense_Mutation_p.608_609DR>EC|COL13A1_uc021psg.1_Missense_Mutation_p.586_587DR>EC|COL13A1_uc021psh.1_Missense_Mutation_p.589_590DR>EC NM_001130103 NP_001123575 Q5TAT6 CODA1_HUMAN Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA. 608 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) AAAAAGGAGACCGTGGTCCCCT 0.589000 54 27 0 0 1 0 0 FAP 2191 broad.mit.edu 37 2 163045629 163045629 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:163045629G>A uc002ucd.3 - 18 1811 c.1603C>T c.(1603-1605)Ccc>Tcc p.P535S FAP_uc010fpc.3_Missense_Mutation_p.P84S|FAP_uc010zct.2_Missense_Mutation_p.P510S NM_004460 NP_004451 Q12884 SEPR_HUMAN Homo sapiens fibroblast activation protein, alpha (FAP), mRNA. 535 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 ATTAGCAAGGGATACTTCTTT 0.299000 77 36 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96054676 96054676 + Nonsense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:96054676C>T uc004ati.1 + 21 5134 c.5134C>T c.(5134-5136)Cag>Tag p.Q1712* WNK2_uc011lud.1_Nonsense_Mutation_p.Q1675*|WNK2_uc004atj.3_Nonsense_Mutation_p.Q1675*|WNK2_uc004atk.3_Nonsense_Mutation_p.Q1312*|WNK2_uc004atl.1_Nonsense_Mutation_p.Q269* NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA. 1712 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CAGCGTCCCCCAGGTAAGGGC 0.562000 175 96 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51512900 51512900 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:51512900G>A uc003pah.1 - 62 11603 c.11327C>T c.(11326-11328)tCc>tTc p.S3776F NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 3776 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity p.S3776S(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) AGGTCCCAGGGACTCTACTCT 0.413000 105 41 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73787510 73787510 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:73787510G>A uc011dyh.2 + 4 1165 c.818G>A c.(817-819)gGa>gAa p.G273E KCNQ5_uc003pgj.4_Missense_Mutation_p.G273E|KCNQ5_uc011dyi.2_Missense_Mutation_p.G273E|KCNQ5_uc010kat.3_Missense_Mutation_p.G273E|KCNQ5_uc003pgk.3_Missense_Mutation_p.G273E|KCNQ5_uc011dyj.2_Missense_Mutation_p.G273E|KCNQ5_uc011dyk.2_Missense_Mutation_p.G32E NM_001160133 NP_001153605 Q9NR82 KCNQ5_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA. 273 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TGGTACATAGGATTTTTGGTT 0.348000 28 11 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176838117 176838117 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:176838117C>T uc001glc.3 - 21 3722 c.3510G>A c.(3508-3510)ggG>ggA p.G1170G ASTN1_uc001glb.1_Silent_p.G1170G|ASTN1_uc001gld.1_Silent_p.G1170G NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 1178 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GCTGCTCCTTCCCACTAGTGT 0.438000 85 45 0 0 1 0 0 CSPP1 79848 broad.mit.edu 37 8 68074065 68074065 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr8:68074065C>T uc003xxi.3 + 21 2679 c.2648C>T c.(2647-2649)cCt>cTt p.P883L CSPP1_uc003xxj.3_Missense_Mutation_p.P848L|CSPP1_uc003xxk.3_Missense_Mutation_p.P503L|CSPP1_uc010lyw.3_5'Flank NM_024790 NP_079066 Q1MSJ5 CSPP1_HUMAN Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA. 883 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) CAGCCTTCTCCTATAGTTCCT 0.368000 165 79 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 33990609 33990609 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:33990609G>A uc003oir.4 - 9 3091 c.2728C>T c.(2728-2730)Cat>Tat p.H910Y GRM4_uc011dsn.2_Missense_Mutation_p.H863Y|GRM4_uc010jvh.3_Missense_Mutation_p.H910Y|GRM4_uc010jvi.3_Missense_Mutation_p.H602Y|GRM4_uc003oio.3_Missense_Mutation_p.H602Y|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.H770Y|GRM4_uc003oiq.3_Missense_Mutation_p.H777Y|GRM4_uc011dsm.2_Missense_Mutation_p.H741Y NM_000841 NP_000832 Q14833 GRM4_HUMAN Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA. 910 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.N909I(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) TAGATTGCATGGTTGGTGTAA 0.602000 113 38 0 0 1 0 0 CLK2P 1197 broad.mit.edu 37 7 23624996 23624996 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:23624996C>T uc003swk.2 - 0 1151 c.501G>A c.(499-501)agG>agA p.R167R Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA. GACCCAAGATCCTTTCCATCG 0.488000 111 92 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 32975413 32975413 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:32975413C>T uc001rlj.4 - 8 2074 c.1959G>A c.(1957-1959)agG>agA p.R653R PKP2_uc001rlk.4_Silent_p.R609R|PKP2_uc010skj.2_Silent_p.R609R NM_004572 NP_004563 Q99959 PKP2_HUMAN Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA. 653 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) CTTTTACTTTCCTGCTTCGAC 0.378000 75 41 0 0 1 0 0 OR2Y1 134083 broad.mit.edu 37 5 180166600 180166600 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:180166600G>A uc003mmf.1 - 0 459 c.459C>T c.(457-459)ttC>ttT p.F153F NM_001001657 NP_001001657 Q8NGV0 OR2Y1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA. 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAGAGTTCACGAAACCCGCAC 0.552000 45 25 0 0 1 0 0 BLM 641 broad.mit.edu 37 15 91290632 91290632 + Missense_Mutation SNP G T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr15:91290632G>T uc002bpr.3 + 1 107 c.10G>T c.(10-12)Gtt>Ttt p.V4F BLM_uc010uqh.2_Missense_Mutation_p.V4F|BLM_uc010uqi.2_5'UTR|BLM_uc010bnx.3_Missense_Mutation_p.V4F NM_000057 NP_000048 P54132 BLM_HUMAN Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA. 4 G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray PML body|cytoplasm|lateral element|nuclear matrix|nucleolus ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) TATGGCTGCTGTTCCTCAAAA 0.353000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 13 4 1 1 1 1 0 C3 718 broad.mit.edu 37 19 6710663 6710663 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:6710663G>A uc002mfm.3 - 12 1735 c.1673C>T c.(1672-1674)tCc>tTc p.S558F NM_000064 NP_000055 P01024 CO3_HUMAN Homo sapiens complement component 3 (C3), mRNA. 558 G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GCCCACGCAGGAGTCCTTGAC 0.637000 28 20 0 0 1 0 0 FZD8 8325 broad.mit.edu 37 10 35930045 35930045 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:35930045G>A uc001iyz.1 - 0 318 c.313C>T c.(313-315)Ccg>Tcg p.P105S NM_031866 NP_114072 Q9H461 FZD8_HUMAN Homo sapiens frizzled family receptor 8 (FZD8), mRNA. 105 FZ. T cell differentiation in thymus|axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|vasculature development Golgi apparatus|cell projection|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 11 CGGCAGGGCGGCAGCGGCTTC 0.677000 99 4 0 0 1 0 0 IFI44L 10964 broad.mit.edu 37 1 79093958 79093958 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:79093958G>A uc010oro.2 + 1 537 c.358G>A c.(358-360)Gat>Aat p.D120N IFI44L_uc010orp.2_Intron|IFI44L_uc010orq.2_Intron NM_006820 NP_006811 Q53G44 IF44L_HUMAN Homo sapiens interferon-induced protein 44-like (IFI44L), mRNA. 120 cytoplasm endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 22 ATCGAAAACGGATATTTTCAT 0.303000 32 12 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55539467 55539467 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr8:55539467G>A uc003xsd.1 + 3 3173 c.3025G>A c.(3025-3027)Gtt>Att p.V1009I RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1009 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TGAGACACAGGTTGGATCTCT 0.383000 227 146 0 0 1 0 0 CAPN3 825 broad.mit.edu 37 15 42681288 42681288 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr15:42681288C>T uc001zpn.1 + 4 1101 c.795C>T c.(793-795)tcC>tcT p.S265S CAPN3_uc001zpk.1_Silent_p.S38S|CAPN3_uc001zpl.1_Silent_p.S178S|CAPN3_uc010udf.1_Silent_p.S178S|CAPN3_uc010udg.1_Silent_p.S178S|CAPN3_uc001zpo.1_Silent_p.S265S|CAPN3_uc001zpp.1_Silent_p.S265S NM_000070 NP_000061 P20807 CAN3_HUMAN Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA. 265 Calpain catalytic. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 47 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) TGGGCTGCTCCATTGATGTAA 0.527000 157 84 0 0 1 0 0 CRHR2 1395 broad.mit.edu 37 7 30693131 30693131 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:30693131G>A uc003tbn.3 - 11 1426 c.1181C>T c.(1180-1182)cCt>cTt p.P394L CRHR2_uc010kvw.2_3'UTR|CRHR2_uc010kvx.2_Missense_Mutation_p.P393L|CRHR2_uc022abg.1_Non-coding_Transcript|CRHR2_uc010kvy.2_Missense_Mutation_p.P230L|CRHR2_uc003tbo.3_Missense_Mutation_p.P380L|CRHR2_uc003tbp.3_Missense_Mutation_p.P421L NM_001883 NP_001874 Q13324 CRFR2_HUMAN Homo sapiens corticotropin releasing hormone receptor 2 (CRHR2), transcript variant 1, mRNA. 394 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GGGTGATGTAGGGATGGACAT 0.652000 316 216 0 0 1 0 0 GSN 2934 broad.mit.edu 37 9 124062285 124062285 + Splice_Site SNP T G G TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:124062285T>G uc004blf.1 + 1 205 c.144_splice c.e1+2 p.R48_splice GSN_uc004bld.1_Intron|GSN_uc010mvr.1_Intron|GSN_uc010mvq.1_Intron|GSN_uc010mvu.1_Intron|GSN_uc010mvt.1_Intron|GSN_uc010mvs.1_Intron|GSN_uc004ble.1_Intron|GSN_uc010mvv.1_Intron|GSN_uc011lyh.1_Intron|GSN_uc011lyi.1_Intron|GSN_uc011lyj.1_5'Flank NM_000177 NP_000168 P06396 GELS_HUMAN Homo sapiens gelsolin (GSN), transcript variant 1, mRNA. 48 actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1) 21 gaggcgcgggtgagtgcccgg 0.697000 62 14 0 0 1 0 0 STL 7955 broad.mit.edu 37 6 125231381 125231381 + RNA SNP T C C TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:125231381T>C uc003pzq.3 - 6 c.3353A>G Homo sapiens six-twelve leukemia (STL), non-coding RNA. GGAACTAAAATACATGGTTGG 0.294000 T ETV6 B-ALL 13 14 0 0 1 0 0 ZNF350 59348 broad.mit.edu 37 19 52469210 52469210 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:52469210G>A uc002pyd.3 - 4 724 c.496C>T c.(496-498)Cat>Tat p.H166Y BC014606_uc002pyc.3_Intron NM_021632 NP_067645 Q9GZX5 ZN350_HUMAN Homo sapiens zinc finger protein 350 (ZNF350), mRNA. 166 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|transcriptional repressor complex DNA binding|protein binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179) TGGTTAGCATGAAGAAAGGAG 0.373000 159 67 0 0 1 0 0 CAPN9 10753 broad.mit.edu 37 1 230915968 230915968 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:230915968G>A uc001htz.1 + 9 1271 c.1158G>A c.(1156-1158)gaG>gaA p.E386E CAPN9_uc009xfg.1_Silent_p.E323E|CAPN9_uc001hua.1_Silent_p.E360E NM_006615 NP_006606 O14815 CAN9_HUMAN Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA. 386 Domain III. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) CTCTGACTGAGAAAGATGAGG 0.423000 72 34 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156589988 156589988 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:156589988C>T uc003lwn.3 - 1 1388 c.1288G>A c.(1288-1290)Gaa>Aaa p.E430K NM_130899 NP_570969 Q8TC56 FA71B_HUMAN Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA. 430 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCTCTTCTTTCCTTGTTTTCA 0.498000 168 77 0 0 1 0 0 RALGDS 5900 broad.mit.edu 37 9 135975765 135975765 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:135975765G>A uc004cco.3 - 16 2479 c.2459C>T c.(2458-2460)aCc>aTc p.T820I RALGDS_uc004ccn.3_Missense_Mutation_p.T8I|RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Missense_Mutation_p.T808I|RALGDS_uc004ccr.3_Missense_Mutation_p.T819I|RALGDS_uc011mcv.2_Missense_Mutation_p.T791I|RALGDS_uc004ccs.3_Missense_Mutation_p.T765I|RALGDS_uc011mcw.2_Missense_Mutation_p.T891I|RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccv.1_3'UTR|RALGDS_uc004ccu.1_3'UTR NM_006266 NP_006257 Q12967 GNDS_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA. 820 Ras-associating. Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) ATCTTGGCTGGTCACCTGCAT 0.612000 T CIITA """PMBL, Hodgkin Lymphona, """ 197 118 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103300477 103300477 + Silent SNP A G G TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr8:103300477A>G uc003ykr.2 - 35 5186 c.4731T>C c.(4729-4731)ggT>ggC p.G1577G UBR5_uc003yks.2_Silent_p.G1577G NM_015902 NP_056986 O95071 UBR5_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA. 1577 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CTCCAGCCACACCCTCCACCA 0.423000 198 4 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101656106 101656106 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:101656106G>A uc001kqj.2 - 9 3061 c.2969C>T c.(2968-2970)tCc>tTc p.S990F DNMBP_uc010qpl.1_Intron|DNMBP_uc001kqg.2_Missense_Mutation_p.S278F|DNMBP_uc001kqh.2_Missense_Mutation_p.S622F NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN Homo sapiens dynamin binding protein (DNMBP), mRNA. 990 intracellular signal transduction|regulation of Rho protein signal transduction Golgi stack|cell junction|cytoskeleton|synapse Rho guanyl-nucleotide exchange factor activity|protein binding central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) GTTCAGTTTGGAAATTTTCTC 0.458000 104 46 0 0 1 0 0 LHX4 89884 broad.mit.edu 37 1 180243345 180243345 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:180243345C>T uc001goe.2 + 5 1036 c.804C>T c.(802-804)ggC>ggT p.G268G LOC100527964_uc001gof.2_Intron NM_033343 NP_203129 Q969G2 LHX4_HUMAN Homo sapiens LIM homeobox 4 (LHX4), mRNA. 268 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1) 16 CAGAACTTGGCCACACCAATA 0.493000 229 5 0 0 1 0 0 PGM2L1 283209 broad.mit.edu 37 11 74085522 74085522 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:74085522G>A uc001ovb.1 - 1 513 c.217C>T c.(217-219)Cgt>Tgt p.R73C NM_173582 NP_775853 Q6PCE3 PGM2L_HUMAN Homo sapiens phosphoglucomutase 2-like 1 (PGM2L1), mRNA. 73 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) ATGGCAGAACGAAGTCCTGCA 0.413000 63 36 0 0 1 0 0 OAT 4942 broad.mit.edu 37 10 126089462 126089462 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:126089462G>A uc001lhp.3 - 8 1239 c.1106C>T c.(1105-1107)aCt>aTt p.T369I OAT_uc001lhr.3_Missense_Mutation_p.T231I|OAT_uc001lhq.3_Non-coding_Transcript NM_000274 NP_001165285 P04181 OAT_HUMAN Homo sapiens ornithine aminotransferase (OAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 369 cellular amino acid biosynthetic process|visual perception mitochondrial matrix ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding endometrium(2)|large_intestine(1)|lung(2) 5 all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116) L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114) TCTTACGGCAGTTACAACATC 0.333000 30 17 0 0 1 0 0 ACVR1C 130399 broad.mit.edu 37 2 158395120 158395120 + Nonsense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:158395120G>A uc002tzk.4 - 7 1564 c.1321C>T c.(1321-1323)Cga>Tga p.R441* ACVR1C_uc002tzl.4_Nonsense_Mutation_p.R361*|ACVR1C_uc010fof.3_Nonsense_Mutation_p.R284*|ACVR1C_uc010foe.3_Nonsense_Mutation_p.R391* NM_145259 NP_001104501 Q8NER5 ACV1C_HUMAN Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA. 441 Protein kinase. apoptosis|cell differentiation|regulation of apoptosis activin receptor complex ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 42 ATACTTGGTCGAAACTTCTGG 0.388000 129 59 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37252971 37252971 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:37252971C>T uc022abv.1 - 11 1633 c.923G>A c.(922-924)aGg>aAg p.R308K ELMO1_uc011kbc.2_Missense_Mutation_p.R212K|ELMO1_uc003tfk.2_Missense_Mutation_p.R308K|ELMO1_uc010kxg.2_Missense_Mutation_p.R308K NM_001206482 NP_001193411 Q92556 ELMO1_HUMAN Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA. 308 Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 GGTCATCATCCTGTCTTCCAG 0.498000 148 43 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3673609 3673609 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr20:3673609C>T uc002wja.3 - 13 3678 c.3678G>A c.(3676-3678)ctG>ctA p.L1226L SIGLEC1_uc002wiz.4_Silent_p.L1226L|SIGLEC1_uc002wjb.1_5'UTR NM_023068 NP_075556 Q9BZZ2 SN_HUMAN Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA. 1226 Ig-like C2-type 12. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 CTCGCAGCTCCAGGCGCAGGG 0.711000 88 48 0 0 1 0 0 TRIM56 81844 broad.mit.edu 37 7 100732247 100732247 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:100732247C>T uc003uxq.3 + 2 1885 c.1654C>T c.(1654-1656)Cct>Tct p.P552S TRIM56_uc003uxr.3_Intron|TRIM56_uc022aiw.1_Missense_Mutation_p.P552S NM_030961 NP_112223 Q9BRZ2 TRI56_HUMAN Homo sapiens tripartite motif containing 56 (TRIM56), mRNA. 552 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(181;0.136)|all_lung(186;0.182) GGGCTGCTCCCCTTGCAGCGT 0.672000 245 86 0 0 1 0 0 CHID1 66005 broad.mit.edu 37 11 902240 902240 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:902240G>A uc010qwu.1 - 3 555 c.442C>T c.(442-444)Cgt>Tgt p.R148C CHID1_uc010qwv.2_Missense_Mutation_p.R179C|CHID1_uc001lsn.3_Missense_Mutation_p.R143C|CHID1_uc001lso.3_Missense_Mutation_p.R118C|CHID1_uc001lsm.3_Missense_Mutation_p.R118C|CHID1_uc001lsp.3_Missense_Mutation_p.R118C|CHID1_uc010qww.2_Missense_Mutation_p.R118C NM_023947 NP_076436 Q9BWS9 CHID1_HUMAN Homo sapiens chitinase domain containing 1 (CHID1), transcript variant 3, mRNA. 118 chitin catabolic process|innate immune response extracellular region|lysosome cation binding|chitinase activity endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 13 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735) AACATCTCACGGCCACGTCTC 0.557000 120 33 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4808372 4808372 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:4808372G>A uc003bqc.3 + 43 6008 c.5658G>A c.(5656-5658)agG>agA p.R1886R ITPR1_uc021wsi.1_Silent_p.R1853R|ITPR1_uc021wsj.1_Silent_p.R1838R|ITPR1_uc011asu.2_Intron NM_001168272 NP_001161744 Q14643 ITPR1_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA. 1901 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) AGGTAGACAGGGATGCCCCAT 0.433000 60 37 0 0 1 0 0 DSG2 1829 broad.mit.edu 37 18 29102145 29102145 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr18:29102145C>T uc002kwu.4 + 5 811 c.623C>T c.(622-624)cCt>cTt p.P208L NM_001943 NP_001934 Q14126 DSG2_HUMAN Homo sapiens desmoglein 2 (DSG2), mRNA. 208 Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.P208S(1) breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) CCTGCTTATCCTCCAGTGTTC 0.378000 76 31 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20673164 20673164 + Missense_Mutation SNP C A A rs145893961 TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr16:20673164C>A uc002dhm.1 - 5 1012 c.944G>T c.(943-945)tGg>tTg p.W315L ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.W315L NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA. 315 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 TGATACCCCCCAAAAGTGGTT 0.363000 78 38 6.4771e-29 6.58392e-29 1 1 0 HCAR3 8843 broad.mit.edu 37 12 123200983 123200983 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:123200983C>T uc001ucy.4 - 0 457 c.302G>A c.(301-303)cGg>cAg p.R101Q HCAR1_uc001ucw.1_Intron NM_006018 NP_006009 P49019 HCAR3_HUMAN Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA. 101 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Mepenzolate(DB04843)|Niacin(DB00627) GAGCACCAGCCGGCAAGGGAT 0.557000 34 79 0 0 1 0 0 SUPT5H 6829 broad.mit.edu 37 19 39961117 39961117 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:39961117C>T uc002olo.4 + 17 1810 c.1631C>T c.(1630-1632)cCc>cTc p.P544L SUPT5H_uc002olp.4_Missense_Mutation_p.P544L|SUPT5H_uc002olq.4_Missense_Mutation_p.P540L|SUPT5H_uc002oln.4_Missense_Mutation_p.P544L|SUPT5H_uc002olr.4_Missense_Mutation_p.P544L|SUPT5H_uc002ols.1_Missense_Mutation_p.P167L|SUPT5H_uc010egp.1_5'Flank NM_001111020 NP_003160 O00267 SPT5H_HUMAN Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA. 544 cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CAGCTGGATCCCCAGACTGTG 0.607000 293 146 0 0 1 0 0 UBQLNL 143630 broad.mit.edu 37 11 5537395 5537395 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:5537395C>T uc001maz.4 - 0 562 c.277G>A c.(277-279)Ggc>Agc p.G93S HBG1_uc001mak.1_Intron NM_145053 NP_659490 Q8IYU4 UBQLN_HUMAN Homo sapiens ubiquilin-like (UBQLNL), mRNA. 93 Ubiquitin-like. endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) ATGGTGTGGCCATCCATGATG 0.547000 103 48 0 0 1 0 0 AVL9 23080 broad.mit.edu 37 7 32582855 32582855 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:32582855G>A uc003tcv.1 + 1 342 c.196G>A c.(196-198)Gca>Aca p.A66T AVL9_uc011kai.2_Missense_Mutation_p.A66T|AVL9_uc010kwj.1_5'Flank NM_015060 NP_055875 Q8NBF6 AVL9_HUMAN Homo sapiens AVL9 homolog (S. cerevisiase) (AVL9), mRNA. 66 integral to membrane p.G65G(1) endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 ACCAGATGGCGCACACAACTA 0.423000 388 7 0 0 1 0 0 NCF1B 654816 broad.mit.edu 37 7 72639986 72639986 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:72639986G>A uc011ker.1 + 3 300 c.223G>A c.(223-225)Ggc>Agc p.G75S FKBP6_uc003twz.2_Intron|NCF1B_uc022afs.1_Intron Homo sapiens neutrophil cytosolic factor 1B pseudogene (NCF1B), non-coding RNA. CGAGTACTGCGGCACGCTCAT 0.622000 135 5 0 0 1 0 0 KRT15 3866 broad.mit.edu 37 17 39675003 39675003 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:39675003C>T uc002hwy.3 - 0 268 c.77G>A c.(76-78)gGg>gAg p.G26E KRT15_uc002hwz.3_5'UTR|KRT15_uc002hxa.3_5'UTR|KRT15_uc002hxb.1_Intron NM_002275 NP_002266 P19012 K1C15_HUMAN Homo sapiens keratin 15 (KRT15), mRNA. 26 Gly-rich.|Head. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(137;0.000286) GCCACCTCCCCCAGCCAGGAG 0.597000 151 111 0 0 1 0 0 GFRAL 389400 broad.mit.edu 37 6 55223885 55223885 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:55223885G>A uc003pcm.1 + 5 987 c.901G>A c.(901-903)Gaa>Aaa p.E301K NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA. 301 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ACAAAGTGAGGAATCTTTGTG 0.378000 86 49 0 0 1 0 0 SUZ12 23512 broad.mit.edu 37 17 30302590 30302590 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:30302590C>T uc002hgs.2 + 6 903 c.681C>T c.(679-681)ttC>ttT p.F227F SUZ12_uc002hgt.2_Silent_p.F204F NM_015355 NP_056170 Q15022 SUZ12_HUMAN Homo sapiens suppressor of zeste 12 homolog (Drosophila) (SUZ12), mRNA. 227 negative regulation of cell differentiation|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|methylated histone residue binding|zinc ion binding SSH2/SUZ12(2)|JAZF1/SUZ12(133) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1) 21 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231) CCGGAAATTTCCCGTCCCTTG 0.433000 T JAZF1 endometrial stromal tumours 79 51 0 0 1 0 0 OGFR 11054 broad.mit.edu 37 20 61444153 61444153 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr20:61444153C>T uc002ydj.3 + 6 1221 c.1186C>T c.(1186-1188)Ccc>Tcc p.P396S OGFR_uc002ydk.3_Missense_Mutation_p.P379S|OGFR_uc002ydl.3_Missense_Mutation_p.P344S NM_007346 NP_031372 Q9NZT2 OGFR_HUMAN Homo sapiens opioid growth factor receptor (OGFR), mRNA. 396 regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 17 Breast(26;3.65e-08) GGAGCAGCCGCCCACAGAGCC 0.657000 53 26 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27279826 27279826 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr8:27279826G>A uc003xfn.2 + 9 1285 c.477G>A c.(475-477)cgG>cgA p.R159R PTK2B_uc022ate.1_Silent_p.R159R|PTK2B_uc003xfp.2_Silent_p.R159R|PTK2B_uc003xfq.2_Silent_p.R159R NM_173174 NP_775268 Q14289 FAK2_HUMAN Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA. 159 FERM. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) ACCAGCTCCGGAACGACTACA 0.622000 66 31 0 0 1 0 0 STYXL1 51657 broad.mit.edu 37 7 75651186 75651186 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:75651186G>A uc003uel.3 - 3 633 c.290C>T c.(289-291)tCt>tTt p.S97F STYXL1_uc011kgg.2_5'UTR|STYXL1_uc003ueh.3_Silent_p.L8L|STYXL1_uc011kgf.2_Silent_p.L8L|STYXL1_uc003uek.4_Intron|STYXL1_uc003uem.3_Missense_Mutation_p.S97F|STYXL1_uc010ldg.2_Non-coding_Transcript|STYXL1_uc010ldh.2_Missense_Mutation_p.S97F|STYXL1_uc003uen.1_Missense_Mutation_p.S97F NM_016086 NP_057170 Q9Y6J8 STYL1_HUMAN Homo sapiens serine/threonine/tyrosine interacting-like 1 (STYXL1), mRNA. 97 Rhodanese. intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 10 ATCACCATCAGAGTCTGAATC 0.428000 564 187 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13727654 13727654 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:13727654G>A uc003jfd.2 - 69 12037 c.11995C>T c.(11995-11997)Ctt>Ttt p.L3999F DNAH5_uc003jfc.2_Missense_Mutation_p.L167F NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3999 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GATCTAATAAGGAGAAGACGT 0.363000 Kartagener syndrome 92 39 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197390208 197390208 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:197390208G>A uc001gtz.3 + 5 1459 c.1250G>A c.(1249-1251)gGg>gAg p.G417E CRB1_uc010poz.2_Missense_Mutation_p.G348E|CRB1_uc009wza.3_Missense_Mutation_p.G305E|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.G417E|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.G66E NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 417 EGF-like 10; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.P416T(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 AACTTGCCTGGGAATTATACT 0.413000 132 58 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6959439 6959439 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr18:6959439G>A uc002knm.3 - 53 7773 c.7679C>T c.(7678-7680)cCt>cTt p.P2560L LAMA1_uc002knk.3_5'Flank|LAMA1_uc002knl.3_Missense_Mutation_p.P13L|LAMA1_uc010wzj.2_Missense_Mutation_p.P2036L NM_005559 NP_005550 P25391 LAMA1_HUMAN Homo sapiens laminin, alpha 1 (LAMA1), mRNA. 2560 Laminin G-like 3. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCCATCCCCAGGATTGACATG 0.517000 79 42 0 0 1 0 0 X97876 0 broad.mit.edu 37 9 66500839 66500839 + RNA SNP T C C TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:66500839T>C uc004aed.1 + 2 c.932T>C Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA. AACCACCTGGTGCCCAGGGCT 0.637000 79 5 0 0 1 0 0 KRTAP4-4 84616 broad.mit.edu 37 17 39316759 39316759 + Missense_Mutation SNP T C C TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:39316759T>C uc002hwc.3 - 0 225 c.185A>G c.(184-186)cAc>cGc p.H62R NM_032524 NP_115913 Q9BYR3 KRA44_HUMAN Homo sapiens keratin associated protein 4-4 (KRTAP4-4), mRNA. 62 26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR]. Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1). keratin filament kidney(1)|large_intestine(1)|lung(5) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GCAGCTGGGGTGGCAGCAGGT 0.662000 176 6 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7646249 7646249 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:7646249C>T uc002giu.1 + 10 1707 c.1693C>T c.(1693-1695)Ctt>Ttt p.L565F DNAH2_uc002git.3_Missense_Mutation_p.L647F|DNAH2_uc010vuk.2_Missense_Mutation_p.L565F NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 565 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCCTCAGTGCCTTGCTGGTGC 0.572000 34 25 0 0 1 0 0 ARRB2 409 broad.mit.edu 37 17 4619828 4619828 + Silent SNP A C C TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:4619828A>C uc010vsg.2 + 4 510 c.282A>C c.(280-282)ccA>ccC p.P94P ARRB2_uc002fyj.3_Silent_p.P94P|ARRB2_uc002fyk.3_Silent_p.P79P|ARRB2_uc002fyl.3_Silent_p.P94P|ARRB2_uc002fym.3_Silent_p.P79P|ARRB2_uc002fyn.3_5'UTR NM_004313 NP_004304 P32121 ARRB2_HUMAN Homo sapiens arrestin, beta 2 (ARRB2), transcript variant 1, mRNA. 94 G-protein coupled receptor internalization|cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|negative regulation of NF-kappaB transcription factor activity|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 TGCCCAACCCACCCCGGCCCC 0.667000 39 8 0 0 1 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823673 38823673 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr22:38823673G>A uc003avs.1 - 1 562 c.465C>T c.(463-465)gtC>gtT p.V155V KCNJ4_uc003avt.1_Silent_p.V155V|KCNJ4_uc021wpp.1_Silent_p.V155V NM_004981 NP_690607 P48050 IRK4_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA. 155 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex PDZ domain binding|inward rectifier potassium channel activity endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) CGATGGACTGGACCACCACAG 0.622000 80 40 0 0 1 0 0 TRIML2 205860 broad.mit.edu 37 4 189012654 189012654 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr4:189012654G>A uc011cle.1 - 7 1484 c.1262C>T c.(1261-1263)tCc>tTc p.S421F TRIML2_uc003izj.1_Missense_Mutation_p.S174F|TRIML2_uc003izk.1_Missense_Mutation_p.S154F|TRIML2_uc003izl.2_Missense_Mutation_p.S346F NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA. 346 ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) GGCGCAATGGGAGAAATTGTA 0.483000 154 77 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168233516 168233516 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:168233516G>A uc010jjg.3 - 8 1290 c.870C>T c.(868-870)atC>atT p.I290I SLIT3_uc003mab.3_Silent_p.I290I|SLIT3_uc010jji.2_Silent_p.I290I|SLIT3_uc003mac.1_Silent_p.I87I NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 290 LRRNT 2. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GACAGTCCACGATGTTATTGC 0.582000 178 69 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176708828 176708828 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:176708828C>T uc001gkz.3 + 12 5029 c.3865C>T c.(3865-3867)Ccc>Tcc p.P1289S PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1289 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.P1289P(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGGCCTAGTTCCCGGAGAGCA 0.448000 81 41 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130833010 130833010 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:130833010C>T uc010fmh.2 - 16 2435 c.2035G>A c.(2035-2037)Gat>Aat p.D679N NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA. 679 cell cortex ATP binding p.D679D(1) breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 CTTTCAATATCCTCCAAATAT 0.388000 56 29 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3242157 3242157 + Silent SNP C T T rs144210017 TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chrX:3242157C>T uc004crg.4 - 4 1726 c.1569G>A c.(1567-1569)gcG>gcA p.A523A NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 523 Ig-like C2-type 1. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CATCCATGGGCGCTTTCAGGA 0.542000 23 35 0 0 1 0 0 FBXO39 162517 broad.mit.edu 37 17 6683763 6683763 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:6683763G>A uc010vtg.2 + 1 696 c.576G>A c.(574-576)gaG>gaA p.E192E NM_153230 NP_694962 Q8N4B4 FBX39_HUMAN Homo sapiens F-box protein 39 (FBXO39), mRNA. 192 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 TGAGGAATGAGAATGTGATCT 0.498000 71 46 0 0 1 0 0 LOC654342 654342 broad.mit.edu 37 2 91843404 91843404 + RNA SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:91843404G>A uc002sts.4 - 1 c.166C>T LOC654342_uc010yub.1_Non-coding_Transcript Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC654342), non-coding RNA. CTTGCAGGATGGAGTCTTGGC 0.612000 51 24 0 0 1 0 0 KCNJ18 100134444 broad.mit.edu 37 17 21319170 21319170 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:21319170C>T uc021tss.1 + 2 886 c.516C>T c.(514-516)atC>atT p.I172I KCNJ18_uc002gyv.1_Silent_p.I172I|KCNJ18_uc021tst.1_Silent_p.I172I NM_001194958 NP_001181887 B7U540 IRK18_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA. 172 integral to membrane inward rectifier potassium channel activity GCTGCATCATCGACTCCTTCA 0.632000 156 14 0 0 1 0 0 PLEK2 26499 broad.mit.edu 37 14 67864416 67864416 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr14:67864416G>A uc001xjh.1 - 1 222 c.170C>T c.(169-171)aCc>aTc p.T57I NM_016445 NP_057529 Q9NYT0 PLEK2_HUMAN Homo sapiens pleckstrin 2 (PLEK2), mRNA. 57 PH 1. actin cytoskeleton organization|intracellular signal transduction cytoplasm|cytoskeleton|lamellipodium membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 15 all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953) GCAGGTGATGGTGCAGCCATC 0.607000 41 19 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92560207 92560207 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr13:92560207G>A uc010tif.2 + 5 1663 c.1297G>A c.(1297-1299)Gtt>Att p.V433I NM_004466 NP_004457 P78333 GPC5_HUMAN Homo sapiens glypican 5 (GPC5), mRNA. 433 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TCAGCGTGTGGTTGGAAATGG 0.388000 61 28 0 0 1 0 0 PRKCQ 5588 broad.mit.edu 37 10 6539007 6539007 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:6539007C>T uc001iji.1 - 5 833 c.749G>A c.(748-750)cGa>cAa p.R250Q PRKCQ_uc001ijj.2_Missense_Mutation_p.R217Q|PRKCQ_uc009xim.2_Missense_Mutation_p.R217Q|PRKCQ_uc009xin.2_Missense_Mutation_p.R181Q|PRKCQ_uc010qax.2_Missense_Mutation_p.R92Q NM_006257 NP_006248 Q04759 KPCT_HUMAN Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA. 217 T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 CATGGTTTCTCGGCTATTGAT 0.373000 83 57 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55533835 55533835 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr8:55533835C>T uc003xsd.1 + 1 457 c.309C>T c.(307-309)tcC>tcT p.S103S RP1_uc011ldy.1_Silent_p.S103S NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 103 Doublecortin 1. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ACGGCGAGTCCTACCTATGTT 0.662000 135 77 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38407112 38407112 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:38407112C>T uc003jlc.2 + 7 1357 c.1011C>T c.(1009-1011)gcC>gcT p.A337A EGFLAM_uc003jlb.2_Silent_p.A337A|EGFLAM_uc003jle.2_Silent_p.A103A|EGFLAM_uc003jlf.2_Intron NM_001205301 NP_001192230 Q63HQ2 EGFLA_HUMAN Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA. 337 cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) ATGGTGTGGCCATAATGTCAA 0.547000 116 53 0 0 1 0 0 EXD2 55218 broad.mit.edu 37 14 69695553 69695553 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr14:69695553C>T uc001xky.3 + 3 600 c.354C>T c.(352-354)gcC>gcT p.A118A EXD2_uc001xkt.3_5'UTR|EXD2_uc001xkv.3_Silent_p.A118A|EXD2_uc001xkw.3_5'UTR|EXD2_uc001xku.3_5'UTR|EXD2_uc001xkx.3_5'UTR|EXD2_uc010aqt.3_Silent_p.A118A|EXD2_uc010tte.2_Silent_p.A118A NM_001193360 NP_060669 Q9NVH0 EXD2_HUMAN Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA. 0 3'-5' exonuclease. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1) 14 AAGGCAAAGCCAGCCCTCTGT 0.483000 20 19 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45152162 45152162 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:45152162C>T uc003com.3 - 3 962 c.827G>A c.(826-828)aGg>aAg p.R276K CDCP1_uc003con.3_Missense_Mutation_p.R276K NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA. 276 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) CTCCTCCTTCCTCTCACAGTT 0.587000 163 91 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129559080 129559080 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:129559080G>A uc009zyl.1 - 8 2968 c.2640C>T c.(2638-2640)acC>acT p.T880T TMEM132D_uc001uia.2_Silent_p.T418T NM_133448 NP_597705 Q14C87 T132D_HUMAN Homo sapiens transmembrane protein 132D (TMEM132D), mRNA. 880 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) CGCTGGGGATGGTCTGCAAGT 0.567000 36 72 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62598785 62598785 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr4:62598785G>A uc010ihh.3 + 4 881 c.708G>A c.(706-708)agG>agA p.R236R LPHN3_uc003hcq.4_Silent_p.R236R|LPHN3_uc010ihg.1_Silent_p.R304R|LPHN3_uc003hcs.1_Silent_p.R65R NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN Homo sapiens latrophilin 3 (LPHN3), mRNA. 236 Olfactomedin-like. 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 TGCGGACTAGGATAAAGAGTG 0.458000 49 21 0 0 1 0 0 FIGNL1 63979 broad.mit.edu 37 7 50514070 50514070 + Nonsense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:50514070G>A uc003tpd.3 - 3 1286 c.916C>T c.(916-918)Cag>Tag p.Q306* FIGNL1_uc003tpb.3_Nonsense_Mutation_p.Q195*|FIGNL1_uc003tpc.3_Nonsense_Mutation_p.Q306*|FIGNL1_uc003tpe.3_Nonsense_Mutation_p.Q306*|FIGNL1_uc010kyy.3_Nonsense_Mutation_p.Q306*|FIGNL1_uc022ada.1_Nonsense_Mutation_p.Q306* NM_022116 NP_071399 Q6PIW4 FIGL1_HUMAN Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA. 306 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity p.Q306E(2) endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 29 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) TTTTTTTGCTGATCTACCCAT 0.413000 65 59 0 0 1 0 0 MSH5 4439 broad.mit.edu 37 6 31710717 31710717 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:31710717G>A uc003nwu.2 + 3 463 c.335G>A c.(334-336)cGa>cAa p.R112Q MSH5_uc003nwx.2_Missense_Mutation_p.R112Q|MSH5_uc003nwv.2_Missense_Mutation_p.R112Q|MSH5_uc003nww.2_Missense_Mutation_p.R112Q|MSH5_uc011dof.1_5'Flank NM_172165 NP_751897 O43196 MSH5_HUMAN Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA. 112 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|ovary(2)|skin(2) 5 AATATGACTCGATTTCTGGGA 0.433000 Direct reversal of damage;Mismatch excision repair (MMR) 201 63 0 0 1 0 0 SOWAHB 345079 broad.mit.edu 37 4 77816915 77816915 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr4:77816915C>T uc003hki.3 - 0 2088 c.2088G>A c.(2086-2088)cgG>cgA p.R696R NM_001029870 NP_001025041 A6NEL2 ANR56_HUMAN Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA. 696 TGACATTTACCCGAGAAGCCA 0.537000 415 201 0 0 1 0 0 DUPD1 338599 broad.mit.edu 37 10 76797702 76797702 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:76797702C>T uc001jwq.1 - 2 555 c.555G>A c.(553-555)ccG>ccA p.P185P NM_001003892 NP_001003892 Q68J44 DUPD1_HUMAN Homo sapiens dual specificity phosphatase and pro isomerase domain containing 1 (DUPD1), mRNA. 185 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1) 11 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) AGCCCCGGTTCGGGAGGACGC 0.652000 77 38 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43411155 43411155 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:43411155G>A uc002ovj.1 - 4 1258 c.1159C>T c.(1159-1161)Cat>Tat p.H387Y PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.H227Y|PSG4_uc002ovg.1_Missense_Mutation_p.H387Y NM_002782 NP_002773 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA. 388 Ig-like C2-type 3. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) AGCCCGCTATGATTTGTAGTA 0.453000 444 218 0 0 1 0 0 CRK 1398 broad.mit.edu 37 17 1340006 1340006 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:1340006G>A uc002fsl.3 - 1 835 c.685C>T c.(685-687)Ccg>Tcg p.P229S CRK_uc002fsm.3_Intron NM_016823 NP_058431 P46108 CRK_HUMAN Homo sapiens v-crk sarcoma virus CT10 oncogene homolog (avian) (CRK), transcript variant II, mRNA. 229 actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter cytosol|endosome|nucleus|plasma membrane SH2 domain binding|protein binding p.P229L(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2) 9 UCEC - Uterine corpus endometrioid carcinoma (25;0.083) TTAGGGAGCGGAGTGTTGACG 0.582000 130 49 0 0 1 0 0 FAM55C 91775 broad.mit.edu 37 3 101520198 101520198 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:101520198C>T uc003dvn.3 + 4 850 c.213C>T c.(211-213)tcC>tcT p.S71S FAM55C_uc010hpn.3_Silent_p.S71S NM_145037 NP_659474 Q969Y0 FA55C_HUMAN Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA. 71 extracellular region breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 32 AGACCCTGTCCAGCCAGGAGC 0.557000 182 101 0 0 1 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44798977 44798977 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:44798977C>T uc003tlr.3 + 6 1034 c.911C>T c.(910-912)tCc>tTc p.S304F ZMIZ2_uc003tlq.3_Missense_Mutation_p.S272F|ZMIZ2_uc003tls.3_Missense_Mutation_p.S304F|ZMIZ2_uc003tlt.3_5'Flank|ZMIZ2_uc010kyj.3_5'Flank NM_031449 NP_113637 Q8NF64 ZMIZ2_HUMAN Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA. 304 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CCCTCCCCTTCCTACCCTGGG 0.667000 190 60 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63174889 63174889 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr14:63174889C>T uc001xfx.3 - 10 2355 c.2304G>A c.(2302-2304)gtG>gtA p.V768V KCNH5_uc001xfy.3_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA. 768 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CACTGGTTTTCACATAGGCCA 0.507000 66 29 0 0 1 0 0 PRKD3 23683 broad.mit.edu 37 2 37496818 37496818 + Missense_Mutation SNP C A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:37496818C>A uc002rqd.3 - 11 2272 c.1717G>T c.(1717-1719)Gtt>Ttt p.V573F PRKD3_uc002rqe.1_Missense_Mutation_p.V173F|PRKD3_uc002rqf.1_Missense_Mutation_p.V573F NM_005813 NP_005804 O94806 KPCD3_HUMAN Homo sapiens protein kinase D3 (PRKD3), mRNA. 573 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) ATCTGGTAAACAGTACTGATA 0.358000 68 42 2.77807e-22 2.81966e-22 1 1 0 CUBN 8029 broad.mit.edu 37 10 17157555 17157555 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:17157555G>A uc001ioo.3 - 6 687 c.635C>T c.(634-636)tCc>tTc p.S212F NM_001081 NP_001072 O60494 CUBN_HUMAN Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA. 212 cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GTCATATTTGGATGCACACTG 0.567000 87 46 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95182762 95182762 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr8:95182762G>A uc003ygh.2 - 8 1054 c.929C>T c.(928-930)gCa>gTa p.A310V CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.A310V NM_004063 NP_004054 Q12864 CAD17_HUMAN Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA. 310 Cadherin 3. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) CTTTGCAACTGCATAAAAAAC 0.383000 171 5 0 0 1 0 0 CFHR2 3080 broad.mit.edu 37 1 196928039 196928039 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:196928039G>A uc001gtq.1 + 4 719 c.642G>A c.(640-642)atG>atA p.M214I CFHR2_uc001gtr.1_Missense_Mutation_p.M90I NM_005666 NP_005657 P36980 FHR2_HUMAN Homo sapiens complement factor H-related 2 (CFHR2), mRNA. 214 Sushi 4. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 AAGAAATTATGGAAAAATATA 0.279000 32 21 0 0 1 0 0 OR51G1 79324 broad.mit.edu 37 11 4945475 4945475 + Missense_Mutation SNP G A A rs142377582 TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:4945475G>A uc010qyr.2 - 0 95 c.95C>T c.(94-96)cCc>cTc p.P32L NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA. 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GAAGCAGAAGGGAATAGAGAT 0.463000 97 49 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784028 9784028 + Silent SNP T C C rs2227841 byFrequency TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr4:9784028T>C uc003gmb.4 + 0 771 c.375T>C c.(373-375)acT>acC p.T125T NM_000798 NP_000789 P21918 DRD5_HUMAN Homo sapiens dopamine receptor D5 (DRD5), mRNA. 125 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TGTGCTCCACTGCCTCCATCC 0.622000 64 7 0 0 1 0 0 CLCNKA 1187 broad.mit.edu 37 1 16374522 16374522 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:16374522C>T uc001axx.4 + 4 617 c.481C>T c.(481-483)Ctc>Ttc p.L161F CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_5'Flank|CLCNKA_uc001axy.4_5'Flank NM_000085 NP_000076 P51800 CLCKA_HUMAN Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA. 161 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) TGGCAGCACCCTCTTCCTCGG 0.622000 75 39 0 0 1 0 0 CTIF 9811 broad.mit.edu 37 18 46385776 46385776 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr18:46385776C>T uc002ldd.3 + 12 2008 c.1649C>T c.(1648-1650)gCc>gTc p.A550V CTIF_uc002ldc.3_Missense_Mutation_p.A548V|CTIF_uc002lde.4_Missense_Mutation_p.A177V NM_001142397 NP_001135869 O43310 CTIF_HUMAN Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA. 548 MIF4G. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 31 GAGCTCCTGGCCAGCGCACGG 0.622000 130 59 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56363518 56363518 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:56363518G>A uc002qmd.4 + 1 494 c.72G>A c.(70-72)agG>agA p.R24R NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 24 DAPIN. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) AGGAGTTCAGGAAATTTAAAG 0.438000 162 75 0 0 1 0 0 EXD3 54932 broad.mit.edu 37 9 140250747 140250747 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:140250747G>A uc004cmp.2 - 7 926 c.730C>T c.(730-732)Ctg>Ttg p.L244L EXD3_uc010ncf.1_5'UTR|EXD3_uc004cmq.1_Non-coding_Transcript|EXD3_uc010ncg.1_Silent_p.L183L NM_017820 NP_060290 Q8N9H8 MUT7_HUMAN Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA. 244 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 CGCTCCTGCAGACGCAAGACC 0.652000 16 8 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38592947 38592947 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:38592947C>T uc021wvo.1 - 26 4968 c.4916G>A c.(4915-4917)gGg>gAg p.G1639E SCN5A_uc021wvk.1_Missense_Mutation_p.G1606E|SCN5A_uc021wvl.1_Missense_Mutation_p.G1585E|SCN5A_uc021wvm.1_Missense_Mutation_p.G1621E|SCN5A_uc021wvn.1_Missense_Mutation_p.G1638E|SCN5A_uc021wvp.1_Missense_Mutation_p.G1639E|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.G1451E|SCN5A_uc021wvi.1_Missense_Mutation_p.G1505E NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1639 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CCCCTTGGCCCCTCGGATCAG 0.587000 140 81 0 0 1 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117172 117172 + RNA SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chrGL000205.1:117172C>T uc002kgk.4 + 0 c.550C>T Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. TTGCAAATTTCCCTAAAGAAT 0.463000 284 13 0 0 1 0 0 TMEM168 64418 broad.mit.edu 37 7 112423843 112423843 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:112423843G>A uc003vgn.3 - 1 1430 c.1038C>T c.(1036-1038)tcC>tcT p.S346S TMEM168_uc010lju.3_Silent_p.S346S|TMEM168_uc011kmr.2_Intron NM_022484 NP_071929 Q9H0V1 TM168_HUMAN Homo sapiens transmembrane protein 168 (TMEM168), mRNA. 346 integral to membrane|transport vesicle p.S346S(2) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1) 32 GCATCCCTTTGGATGCCATGA 0.393000 230 236 0 0 1 0 0 OR4C13 283092 broad.mit.edu 37 11 49974067 49974067 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:49974067C>T uc010rhz.2 + 0 125 c.93C>T c.(91-93)gtC>gtT p.V31V NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA. 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 TGTTTTCTGTCATCTACATCA 0.408000 225 234 0 0 1 0 0 FLJ36000 284124 broad.mit.edu 37 17 21904093 21904093 + RNA SNP A G G rs76302591 TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:21904093A>G uc002gza.2 + 0 c.32A>G Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA. cacggggtccacaggaacgtc 0.682000 81 5 0 0 1 0 0 MST1P9 11223 broad.mit.edu 37 1 17085361 17085361 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:17085361C>T uc010ock.2 - 9 1330 c.1330G>A c.(1330-1332)Ggg>Agg p.G444R CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.M5I Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA. breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1) 34 CACCAGGGCCCATGGCTATCC 0.597000 125 11 0 0 1 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2901590 2901590 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:2901590G>A uc010ckd.3 + 13 1210 c.1120G>A c.(1120-1122)Gac>Aac p.D374N RAP1GAP2_uc010cke.3_Missense_Mutation_p.D359N NM_015085 NP_055900 Q684P5 RPGP2_HUMAN Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA. 374 Rap-GAP. 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 GTTTGTCCCAGACATGATAGC 0.478000 134 83 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138442194 138442194 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr4:138442194G>A uc003ihe.4 - 3 3784 c.3397C>T c.(3397-3399)Cgc>Tgc p.R1133C PCDH18_uc003ihf.4_Missense_Mutation_p.R1125C|PCDH18_uc011cgz.2_Missense_Mutation_p.R344C|PCDH18_uc003ihg.4_Missense_Mutation_p.R912C|PCDH18_uc011cha.2_Missense_Mutation_p.R313C NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 1133 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TAGCTCTGGCGGACATCTTGA 0.423000 62 24 0 0 1 0 0 PDE11A 50940 broad.mit.edu 37 2 178879077 178879077 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:178879077C>T uc002ulq.3 - 1 1341 c.1023G>A c.(1021-1023)gcG>gcA p.A341A PDE11A_uc002ulr.3_Silent_p.A91A|PDE11A_uc002ult.1_Silent_p.A91A NM_016953 NP_001070664 Q9HCR9 PDE11_HUMAN Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA. 341 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding p.A341V(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) TCTTATTTATCGCTTGGGCCA 0.378000 Primary Pigmented Nodular Adrenocortical Disease, Familial 117 62 0 0 1 0 0 STAC2 342667 broad.mit.edu 37 17 37369299 37369299 + Silent SNP T C C TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:37369299T>C uc002hrs.3 - 9 1365 c.1080A>G c.(1078-1080)caA>caG p.Q360Q STAC2_uc010cvt.3_Silent_p.Q218Q NM_198993 NP_945344 Q6ZMT1 STAC2_HUMAN Homo sapiens SH3 and cysteine rich domain 2 (STAC2), mRNA. 360 intracellular signal transduction metal ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2) 17 CGGAGAAGGGTTGGCAGCAGC 0.607000 112 49 0 0 1 0 0 NGF 4803 broad.mit.edu 37 1 115829096 115829096 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:115829096G>A uc021osd.1 - 0 321 c.321C>T c.(319-321)gtC>gtT p.V107V NGF_uc001efu.1_Silent_p.V107V NM_002506 NP_002497 P01138 NGF_HUMAN Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA. 107 Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling Golgi lumen|endosome growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) CAGCACCACCGACCTCGAAGT 0.587000 43 21 0 0 1 0 0 DAGLA 747 broad.mit.edu 37 11 61511316 61511316 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:61511316C>T uc001nsa.3 + 19 2600 c.2484C>T c.(2482-2484)ccC>ccT p.P828P NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA. 828 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) CTGCCATCCCCGAGGAAAACC 0.672000 517 214 0 0 1 0 0 FASTKD5 60493 broad.mit.edu 37 20 3127585 3127585 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr20:3127585G>A uc021vzx.1 - 0 2132 c.2132C>T c.(2131-2133)tCc>tTc p.S711F LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Missense_Mutation_p.S711F NM_021826 NP_068598 Q7L8L6 FAKD5_HUMAN Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA. 711 RAP. apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 GAGATCCCTGGAGCCATAGCA 0.562000 178 86 0 0 1 0 0 TCP1 6950 broad.mit.edu 37 6 160208881 160208881 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:160208881C>T uc003qsr.3 - 2 408 c.173G>A c.(172-174)gGt>gAt p.G58D TCP1_uc003qss.3_5'UTR|SNORA29_uc003qsv.1_5'Flank|MRPL18_uc010kkb.3_5'Flank|MRPL18_uc003qsw.4_5'Flank NM_030752 NP_001008897 P17987 TCPA_HUMAN Homo sapiens t-complex 1 (TCP1), transcript variant 1, mRNA. 58 'de novo' posttranslational protein folding|tubulin complex assembly Golgi apparatus|cell junction ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(2) 10 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) GATGGTTGCACCATCGTTAGT 0.398000 109 54 0 0 1 0 0 DDX11 1663 broad.mit.edu 37 12 31237922 31237922 + Missense_Mutation SNP G C C TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:31237922G>C uc001rjt.1 + 4 751 c.500G>C c.(499-501)aGa>aCa p.R167T DDX11_uc010sjw.1_Missense_Mutation_p.R167T|DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Missense_Mutation_p.R167T|DDX11_uc001rjs.1_Missense_Mutation_p.R167T|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R167T|DDX11_uc001rjw.1_Missense_Mutation_p.R141T|DDX11_uc001rjx.1_5'Flank NM_152438 NP_689651 Q96FC9 DDX11_HUMAN Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA. 167 Glu-rich.|Helicase ATP-binding. G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding p.R167T(18) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GAAGAAGAAAGAGAGAATCTC 0.612000 Multiple Myeloma(12;0.14) 19 3 0 0 1 0 0 UNC5A 90249 broad.mit.edu 37 5 176304232 176304232 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:176304232G>A uc003mey.3 + 8 1610 c.1418G>A c.(1417-1419)gGg>gAg p.G473E NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA. 473 ZU5. apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATACCCCGAGGGAAGATCTAT 0.637000 92 56 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16975087 16975087 + Splice_Site SNP A C C TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:16975087A>C uc001ioo.3 - 40 6176 c.6124_splice c.e40+1 p.G2042_splice NM_001081 NP_001072 O60494 CUBN_HUMAN Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA. 2042 CUB 14. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGTTCTCACCATCTCGTATCA 0.448000 83 25 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179599565 179599565 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr2:179599565C>T uc021vsy.1 - 47 11579 c.11354G>A c.(11353-11355)cGa>cAa p.R3785Q TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R446Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 4712 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R3785Q(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAAATACATTCGGACTGTGTT 0.418000 71 35 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52360211 52360211 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:52360211C>T uc011bef.2 + 3 723 c.462C>T c.(460-462)atC>atT p.I154I DNAH1_uc003ddt.1_Silent_p.I154I NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 154 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGCAGTGCATCGGGTCCACCA 0.632000 27 14 0 0 1 0 0 CXorf57 55086 broad.mit.edu 37 X 105865960 105865960 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chrX:105865960C>T uc004emi.4 + 1 874 c.723C>T c.(721-723)atC>atT p.I241I CXorf57_uc004emj.4_Silent_p.I241I|CXorf57_uc004emh.2_Silent_p.I241I NM_018015 NP_060485 Q6NSI4 CX057_HUMAN Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA. 241 p.R240K(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 31 TTGTGAGGATCTTACATAAAT 0.299000 6 16 0 0 1 0 0 DL492607 0 broad.mit.edu 37 11 113661236 113661236 + RNA SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr11:113661236G>A uc001pof.1 + 0 c.1284G>A Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4. GCTGTGGATGGGTTAGGCAGT 0.522000 24 34 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9083313 9083313 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:9083313C>T uc002mkp.3 - 0 8706 c.8502G>A c.(8500-8502)acG>acA p.T2834T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2834 Ser-rich.|Thr-rich. T -> M (in dbSNP:rs10407623). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCAGTCTGTTCGTGGTGATTT 0.507000 31 15 0 0 1 0 0 TGM4 7047 broad.mit.edu 37 3 44943329 44943329 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:44943329G>A uc003coc.4 + 7 950 c.877G>A c.(877-879)Gat>Aat p.D293N NM_003241 NP_003232 P49221 TGM4_HUMAN Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA. 293 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) GACAGGCTTCGATTCAGCTCA 0.562000 68 43 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153223312 153223312 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chrX:153223312G>A uc004fjp.3 - 11 2582 c.2054C>T c.(2053-2055)tCg>tTg p.S685L NM_005334 NP_005325 P51610 HCFC1_HUMAN Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA. 685 Interaction with SIN3A. cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTGGACCACCGACATCACTTT 0.532000 32 59 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10071135 10071135 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:10071135C>T uc002mmq.1 - 66 5276 c.5190G>A c.(5188-5190)acG>acA p.T1730T NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 1730 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent p.T1730T(2) NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) ACTTTTGGTTCGTCTGGCCAA 0.577000 87 36 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48646242 48646242 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:48646242G>A uc002irk.1 + 1 626 c.254G>A c.(253-255)cGc>cAc p.R85H CACNA1G_uc002iri.1_Missense_Mutation_p.R85H|CACNA1G_uc002irj.1_Missense_Mutation_p.R85H|CACNA1G_uc002irl.1_Missense_Mutation_p.R85H|CACNA1G_uc002irm.1_Missense_Mutation_p.R85H|CACNA1G_uc002irn.1_Missense_Mutation_p.R85H|CACNA1G_uc002iro.1_Missense_Mutation_p.R85H|CACNA1G_uc002irp.1_Missense_Mutation_p.R85H|CACNA1G_uc002irq.1_Missense_Mutation_p.R85H|CACNA1G_uc002irr.1_Missense_Mutation_p.R85H|CACNA1G_uc002irs.1_Missense_Mutation_p.R85H|CACNA1G_uc002irt.1_Missense_Mutation_p.R85H|CACNA1G_uc002iru.1_Missense_Mutation_p.R85H|CACNA1G_uc002irv.1_Missense_Mutation_p.R85H|CACNA1G_uc002irw.1_Missense_Mutation_p.R85H|CACNA1G_uc002irx.1_5'UTR|CACNA1G_uc002iry.1_5'UTR|CACNA1G_uc002isg.1_5'UTR|CACNA1G_uc002ish.1_5'UTR|CACNA1G_uc002isi.1_5'UTR|CACNA1G_uc002irz.1_5'UTR|CACNA1G_uc002isa.1_5'UTR|CACNA1G_uc002isd.1_5'UTR|CACNA1G_uc002isb.1_5'UTR|CACNA1G_uc002isc.1_5'UTR|CACNA1G_uc002ise.1_5'UTR|CACNA1G_uc002isf.1_5'UTR NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 85 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity p.R85C(1) 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) TGGTTTGAGCGCATCAGCATG 0.627000 102 4 0 0 1 0 0 BC063132 0 broad.mit.edu 37 GL000241.1 36849 36849 + RNA SNP C G G TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chrGL000241.1:36849C>G uc011mgv.2 - 0 c.27G>C Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors. CGGAGCAGCACCAGGGCGGGG 0.577000 22 3 0 0 1 0 0 WNT10B 7480 broad.mit.edu 37 12 49360170 49360170 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:49360170C>T uc001rss.3 - 4 1322 c.878G>A c.(877-879)gGa>gAa p.G293E WNT10B_uc001rst.3_3'UTR NM_003394 NP_003385 O00744 WN10B_HUMAN Homo sapiens wingless-type MMTV integration site family, member 10B (WNT10B), mRNA. 293 Wnt receptor signaling pathway, calcium modulating pathway|axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity p.G293V(2) central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4) 23 CTGGAAGGCTCCAGAATTGCG 0.637000 180 97 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123745046 123745046 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:123745046C>T uc004bkv.3 - 25 3307 c.3277G>A c.(3277-3279)Gta>Ata p.V1093I NM_001735 NP_001726 P01031 CO5_HUMAN Homo sapiens complement component 5 (C5), mRNA. 1093 G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) TTCTGCTCTACGTATTTATTT 0.294000 30 12 0 0 1 0 0 CHCHD3 54927 broad.mit.edu 37 7 132481269 132481269 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:132481269G>A uc022alw.1 - 7 740 c.609C>T c.(607-609)acC>acT p.T203T CHCHD3_uc003vre.3_Silent_p.T198T|CHCHD3_uc010lmi.3_Non-coding_Transcript NM_017812 NP_060282 Q9NX63 CHCH3_HUMAN Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 3 (CHCHD3), mRNA. 198 CHCH. inner mitochondrial membrane organization|mitochondrial fusion mitochondrial inner membrane protein complex scaffold endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 7 GGGTCTGGTGGGTGTTCTCAC 0.542000 101 34 0 0 1 0 0 ALDH8A1 64577 broad.mit.edu 37 6 135263667 135263667 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:135263667G>A uc003qew.3 - 2 391 c.322C>T c.(322-324)Ccc>Tcc p.P108S ALDH8A1_uc011ecx.2_Missense_Mutation_p.P108S|ALDH8A1_uc003qex.3_Missense_Mutation_p.P108S|ALDH8A1_uc010kgh.3_5'UTR NM_022568 NP_072090 Q9H2A2 AL8A1_HUMAN Homo sapiens aldehyde dehydrogenase 8 family, member A1 (ALDH8A1), transcript variant 1, mRNA. 108 retinal metabolic process cytoplasm retinal dehydrogenase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 36 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) ACAGACCGGGGAATGTCCATG 0.522000 69 33 0 0 1 0 0 KLB 152831 broad.mit.edu 37 4 39439574 39439574 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr4:39439574C>T uc003gua.3 + 2 1661 c.1564C>T c.(1564-1566)Ccc>Tcc p.P522S KLB_uc011byj.2_Missense_Mutation_p.P522S NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN Homo sapiens klotho beta (KLB), mRNA. 522 Glycosyl hydrolase-1 2. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 GGGCCAGTTTCCCTGTGACTT 0.413000 77 39 0 0 1 0 0 MAPK3 5595 broad.mit.edu 37 16 30133239 30133239 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr16:30133239G>A uc002dws.3 - 1 359 c.259C>T c.(259-261)Cgg>Tgg p.R87W BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_5'UTR|MAPK3_uc002dwv.4_Missense_Mutation_p.R87W|MAPK3_uc002dwt.3_Missense_Mutation_p.R87W NM_002746 NP_002737 P27361 MK03_HUMAN Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA. 87 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter cytosol|nucleoplasm ATP binding|MAP kinase activity|phosphatase binding Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605) TGGATCTCCCGGAGCGTGCGC 0.602000 53 36 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93955137 93955137 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:93955137C>T uc003poe.3 - 15 3002 c.2761G>A c.(2761-2763)Gat>Aat p.D921N EPHA7_uc003pof.3_Missense_Mutation_p.D916N|EPHA7_uc011eac.2_Missense_Mutation_p.D917N NM_004440 NP_004431 Q15375 EPHA7_HUMAN Homo sapiens EPH receptor A7 (EPHA7), mRNA. 921 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) GTAGTGAAATCAGGAGTGTTT 0.378000 108 56 0 0 1 0 0 CNR1 1268 broad.mit.edu 37 6 88854838 88854839 + Missense_Mutation DNP GG AA AA TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:88854838_88854839GG>AA uc010kbz.3 - 1 285_286 c.155_156CC>TT c.(154-156)tcc>tTT p.S52F CNR1_uc011dzr.2_Missense_Mutation_p.S52F|CNR1_uc011dzs.2_Missense_Mutation_p.S52F|CNR1_uc003pmq.4_Missense_Mutation_p.S52F|CNR1_uc011dzt.2_Missense_Mutation_p.S52F|CNR1_uc010kca.3_Intron|CNR1_uc021zco.1_Missense_Mutation_p.S52F NM_016083 NP_057167 P21554 CNR1_HUMAN Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA. 52 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) TTCCCCTAAAGGAAGTTAAAGG 0.470000 58 36 0 0 1 0 0 LYPD3 27076 broad.mit.edu 37 19 43965924 43965924 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:43965924G>A uc002owl.1 - 4 728 c.620C>T c.(619-621)cCa>cTa p.P207L LYPD3_uc002owm.3_3'UTR NM_014400 NP_055215 O95274 LYPD3_HUMAN Homo sapiens LY6/PLAUR domain containing 3 (LYPD3), mRNA. 207 UPAR/Ly6 2. anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) CGTGAACCCTGGGCCTGTTAC 0.582000 150 95 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32029367 32029367 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:32029367G>A uc003nzl.2 - 20 7501 c.7299C>T c.(7297-7299)gtC>gtT p.V2433V NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 2493 Fibronectin type-III 16. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GGCCCTGGGGGACGGTCCAGG 0.687000 90 96 0 0 1 0 0 MST1P2 11209 broad.mit.edu 37 1 16975096 16975096 + RNA SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:16975096G>A uc010och.2 + 6 c.1556G>A MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. GGATAGCCATGGGCCCTGGTG 0.622000 187 12 0 0 1 0 0 LALBA 3906 broad.mit.edu 37 12 48962322 48962322 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:48962322C>T uc001rrt.3 - 2 372 c.346G>A c.(346-348)Gat>Aat p.D116N NM_002289 NP_002280 P00709 LALBA_HUMAN Homo sapiens lactalbumin, alpha- (LALBA), mRNA. 116 cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction extracellular space calcium ion binding|lactose synthase activity large_intestine(1)|stomach(2) 3 CCTTTAATATCCAGGATCTTC 0.433000 88 28 0 0 1 0 0 ZNF232 7775 broad.mit.edu 37 17 5009214 5009214 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:5009214G>A uc002gat.3 - 4 1895 c.1240C>T c.(1240-1242)Cct>Tct p.P414S ZNF232_uc002gar.1_Missense_Mutation_p.P405S NM_014519 NP_055334 Q9UNY5 ZN232_HUMAN Homo sapiens zinc finger protein 232 (ZNF232), mRNA. 387 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2) 11 CATATAAAAGGTTTCTCTCCA 0.433000 98 48 0 0 1 0 0 SHROOM1 134549 broad.mit.edu 37 5 132160739 132160739 + Silent SNP G T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:132160739G>T uc003kxx.3 - 4 1810 c.1005C>A c.(1003-1005)ccC>ccA p.P335P SHROOM1_uc003kxy.2_Silent_p.P335P NM_001172700 NP_001166171 Q2M3G4 SHRM1_HUMAN Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA. 335 actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding p.T334P(1) endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACAATGGTCTGGGGGTTTCTG 0.517000 149 87 9.24413e-38 9.43904e-38 1 1 0 CX3CR1 1524 broad.mit.edu 37 3 39307447 39307447 + Missense_Mutation SNP T G G TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:39307447T>G uc021wwc.1 - 1 690 c.650A>C c.(649-651)gAa>gCa p.E217A CX3CR1_uc021wwa.1_Missense_Mutation_p.E185A|CX3CR1_uc021wwb.1_Missense_Mutation_p.E185A|CX3CR1_uc003cjl.3_Missense_Mutation_p.E185A|CX3CR1_uc021wwd.1_Missense_Mutation_p.E185A NM_001171174 NP_001164645 P49238 CX3C1_HUMAN Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA. 185 cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) GGGCCAGATTTCCTGGAGGAC 0.507000 186 84 0 0 1 0 0 ESM1 11082 broad.mit.edu 37 5 54277896 54277896 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:54277896C>T uc003jpk.3 - 1 449 c.380G>A c.(379-381)gGa>gAa p.G127E ESM1_uc010ivt.3_Intron NM_007036 NP_008967 Q9NQ30 ESM1_HUMAN Homo sapiens endothelial cell-specific molecule 1 (ESM1), transcript variant 1, mRNA. 127 angiogenesis|regulation of cell growth extracellular region growth factor activity|insulin-like growth factor binding breast(1)|kidney(1)|large_intestine(4)|lung(4) 10 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116) Lung(15;0.23) CAGGCATTTTCCCGTCCCCCT 0.498000 101 62 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137726973 137726973 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:137726973C>T uc004cfe.3 + 64 5675 c.5293C>T c.(5293-5295)Cgc>Tgc p.R1765C BC058547_uc004cff.3_Intron NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 1765 Fibrillar collagen NC1. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CAAGGCCCTCCGCTTCCTGGG 0.657000 57 32 0 0 1 0 0 EDIL3 10085 broad.mit.edu 37 5 83360657 83360657 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:83360657G>A uc003kio.1 - 7 1233 c.814C>T c.(814-816)Cgt>Tgt p.R272C EDIL3_uc003kip.1_Missense_Mutation_p.R262C|EDIL3_uc011ctt.1_Missense_Mutation_p.R49C NM_005711 NP_005702 O43854 EDIL3_HUMAN Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA. 272 F5/8 type C 1. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) ATGTTTCCACGAAACACCTGT 0.338000 83 49 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33549437 33549437 + Missense_Mutation SNP C G G TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:33549437C>G uc003jia.1 - 20 4340 c.4177G>C c.(4177-4179)Gac>Cac p.D1393H ADAMTS12_uc010iuq.1_Missense_Mutation_p.D1308H NM_030955 NP_112217 P58397 ATS12_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA. 1393 TSP type-1 6. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TCCCGGCTGTCCACGCACTGA 0.567000 HNSCC(64;0.19) 165 95 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9072321 9072321 + Missense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:9072321G>A uc002mkp.3 - 2 15329 c.15125C>T c.(15124-15126)tCc>tTc p.S5042F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5044 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGACAGAAAGGAAGAGGGGGA 0.478000 75 29 0 0 1 0 0 SLC6A12 6539 broad.mit.edu 37 12 306029 306029 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:306029G>A uc001qhz.3 - 11 1759 c.1095C>T c.(1093-1095)atC>atT p.I365I SLC6A12_uc001qhy.3_Intron|SLC6A12_uc001qia.3_Silent_p.I365I|SLC6A12_uc001qib.3_Silent_p.I365I|SLC6A12_uc009zdh.2_Silent_p.I365I NM_003044 NP_003035 P48065 S6A12_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA. 365 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) TGGGGAAGGCGATGAAGGCCA 0.582000 78 33 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21119191 21119191 + Silent SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr22:21119191G>A uc002zsz.4 - 21 2709 c.2448C>T c.(2446-2448)ccC>ccT p.P816P NM_058004 NP_477352 P42356 PI4KA_HUMAN Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA. 816 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) CCTCGGGAGGGGGGTCCAGCA 0.592000 62 26 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23851666 23851666 + Nonsense_Mutation SNP G A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr14:23851666G>A uc001wjv.3 - 37 5838 c.5767C>T c.(5767-5769)Cga>Tga p.R1923* NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 1923 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle p.L1922I(2) breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CTCTTGGCTCGAAGCTTGTTG 0.587000 124 65 0 0 1 0 0 SPNS2 124976 broad.mit.edu 37 17 4439702 4439702 + Missense_Mutation SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:4439702C>T uc002fxx.2 + 10 1802 c.1588C>T c.(1588-1590)Cgc>Tgc p.R530C SPNS2_uc002fxy.2_5'Flank NM_001124758 NP_001118230 Q8IVW8 SPNS2_HUMAN Homo sapiens spinster homolog 2 (Drosophila) (SPNS2), mRNA. 530 lipid transport|transmembrane transport integral to membrane large_intestine(3)|lung(1)|prostate(1)|skin(1) 6 CGTCAGCGACCGCGCCAGGGC 0.682000 74 37 0 0 1 0 0 TCRAV5.1a 0 broad.mit.edu 37 14 22237271 22237271 + Silent SNP C T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr14:22237271C>T uc001wbt.1 + 1 355 c.348C>T c.(346-348)atC>atT p.I116I TRA_uc021rpa.1_Intron|TCRAV5.1a_uc021rpd.1_Non-coding_Transcript Homo sapiens mRNA for T cell receptor alpha variable 6, partial cds, clone: un 84-2. TGTTTCATATCACAGCCTCCC 0.463000 276 139 0 0 1 0 0 LOC100288069 100288069 broad.mit.edu 37 1 700532 700532 + RNA DEL T - - TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:700532delT uc001abo.3 - 6 c.1084delA Homo sapiens general transcription factor IIi pseudogene (LOC100288069), non-coding RNA. aaaaaaaaaaTTCCTTTGGGA 0.453 --- 4 --- --- 2 --- B3GALT6 126792 broad.mit.edu 37 1 1168240 1168241 + Frame_Shift_Ins INS - A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:1168240_1168241insA uc001adk.3 + 0 612_613 c.582_583insA c.(580-585)ccggggfs p.P194fs SDF4_uc001adh.4_5'Flank|SDF4_uc001adi.4_5'Flank|SDF4_uc009vjw.3_5'Flank NM_080605 NP_542172 Q96L58 B3GT6_HUMAN Homo sapiens UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 (B3GALT6), mRNA. 194 glycosaminoglycan biosynthetic process|protein glycosylation Golgi cisterna membrane|Golgi medial cisterna|integral to membrane galactosylxylosylprotein 3-beta-galactosyltransferase activity lung(3) 3 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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|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) GCGTCAAGCCGGGGGGGCGCTG 0.767 --- 45 --- --- 31 --- OXCT2 64064 broad.mit.edu 37 1 40236415 40236415 + Frame_Shift_Del DEL G - - TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:40236415delG uc001ceb.1 - 0 606 c.513delC c.(511-513)cccfs p.P171fs BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron NM_022120 NP_071403 Q9BYC2 SCOT2_HUMAN Homo sapiens 3-oxoacid CoA transferase 2 (OXCT2), mRNA. 171 ketone body catabolic process microtubule-based flagellum|mitochondrion 3-oxoacid CoA-transferase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1) 6 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) Succinic acid(DB00139) TGTAGCGGATGGGGGCGCCCC 0.731 --- 4 --- --- 2 --- VAV3 10451 broad.mit.edu 37 1 108507542 108507544 + Splice_Site DEL GCC - - rs71796067 TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:108507542_108507544delGCC uc001dvk.1 - 1 1 c.-53_splice c.e1-1 VAV3_uc010ouw.1_Splice_Site|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Splice_Site NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA. B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) CAAGGATGCGgccgccgccgccg 0.773 --- 3 --- --- 4 --- APOA1BP 128240 broad.mit.edu 37 1 156562376 156562376 + Frame_Shift_Del DEL A - - TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr1:156562376delA uc001fph.3 + 3 469 c.430delA c.(430-432)aaafs p.K144fs APOA1BP_uc001fpi.3_Frame_Shift_Del_p.K144fs|APOA1BP_uc001fpk.3_Frame_Shift_Del_p.K41fs|APOA1BP_uc010php.1_Frame_Shift_Del_p.K41fs NM_144772 NP_658985 Q8NCW5 AIBP_HUMAN Homo sapiens apolipoprotein A-I binding protein (APOA1BP), mRNA. 144 YjeF N-terminal. extracellular region protein binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTATTACCCCAAAAGGCCTAA 0.567 --- 639 --- --- 9 --- XPC 7508 broad.mit.edu 37 3 14219966 14219968 + Splice_Site DEL CCT - - rs72561774 TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr3:14219966_14219968delCCT uc011ave.2 - 1 207 c.103_splice c.e1+1 p.D35_splice XPC_uc011avf.2_Splice_Site|XPC_uc011avg.2_Splice_Site_p.D35_splice|LSM3_uc003byn.3_5'Flank NM_004628 NP_004619 Q01831 XPC_HUMAN Homo sapiens xeroderma pigmentosum, complementation group C (XPC), transcript variant 1, mRNA. 35 Glu-rich (acidic). nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal XPC complex|cytoplasm|nucleoplasm bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding p.E34delE(1) NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCGCTCTCACCCTCCTCCTCCTC 0.734 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum --- 233 --- --- 9 --- HSP90AB3P 3327 broad.mit.edu 37 4 88814994 88814994 + Frame_Shift_Del DEL T - - TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr4:88814994delT uc010iko.1 + 3 1621 c.1621delT c.(1621-1623)tttfs p.F541fs Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA. ATCTTCGGGCTTTTCCCTTGA 0.537 --- 871 --- --- 8 --- GPR98 84059 broad.mit.edu 37 5 90024654 90024654 + Frame_Shift_Del DEL A - - TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:90024654delA uc003kju.3 + 48 10426 c.10330delA c.(10330-10332)aacfs p.N3444fs GPR98_uc003kjt.3_Frame_Shift_Del_p.N1150fs|GPR98_uc003kjv.3_Frame_Shift_Del_p.N1044fs NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 3444 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGGGTTTATTAACTTTCAAGA 0.443 --- 66 --- --- 39 --- HNRNPH1 3187 broad.mit.edu 37 5 179046306 179046306 + Frame_Shift_Del DEL T - - TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr5:179046306delT uc021yjd.1 - 3 531 c.500delA c.(499-501)aagfs p.K167fs HNRNPH1_uc011dgn.2_5'Flank|HNRNPH1_uc003mkf.4_Frame_Shift_Del_p.K167fs|HNRNPH1_uc003mkg.4_Frame_Shift_Del_p.K75fs|HNRNPH1_uc003mke.4_Frame_Shift_Del_p.K167fs|HNRNPH1_uc003mkh.4_Frame_Shift_Del_p.K167fs NM_005520 NP_005511 P31943 HNRH1_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein H1 (H) (HNRNPH1), mRNA. 167 RRM 2. regulation of RNA splicing actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|poly(U) RNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1) 14 CTTTAGAGCCTTTTCAGCTAT 0.453 --- 550 --- --- 9 --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - G G TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:31939825_31939826insG uc003nyv.3 + 0 180_181 c.52_53insG c.(52-54)cggfs p.R18fs DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.R18fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.R18fs|STK19_uc010jtn.1_5'Flank NM_032454 NP_115830 P49842 STK19_HUMAN Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA. 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 --- 898 --- --- 8 --- STK19 8859 broad.mit.edu 37 6 31939829 31939830 + Frame_Shift_Ins INS - A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:31939829_31939830insA uc003nyv.3 + 0 184_185 c.56_57insA c.(55-57)gcafs p.A19fs DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.A19fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.A19fs|STK19_uc010jtn.1_5'Flank NM_032454 NP_115830 P49842 STK19_HUMAN Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA. 19 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 CAGTGGCGGGCAAACCCCTCCC 0.634 --- 764 --- --- 15 --- PHF1 5252 broad.mit.edu 37 6 33380050 33380050 + Frame_Shift_Del DEL C - - TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:33380050delC uc003oeh.3 + 1 246 c.10delC c.(10-12)cccfs p.P4fs PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Frame_Shift_Del_p.P4fs|PHF1_uc010jux.3_5'UTR NM_024165 NP_077084 O43189 PHF1_HUMAN Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA. 4 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) AATGGCGCAGCCCCCCCGGCT 0.567 --- 175 --- --- 7 --- SCUBE3 222663 broad.mit.edu 37 6 35213795 35213796 + Frame_Shift_Ins INS - GGAAG GGAAG TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:35213795_35213796insGGAAG uc003okf.1 + 19 2680_2681 c.2674_2675insGGAAG c.(2674-2676)aggfs p.R892fs SCUBE3_uc003okg.1_Frame_Shift_Ins_p.R891fs|SCUBE3_uc003okh.1_Frame_Shift_Ins_p.R779fs NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA. 892 CUB. protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 37 TGCCCGTTCCAGGAAGCTCTGG 0.550 --- 499 --- --- 178 --- ZNF76 7629 broad.mit.edu 37 6 35258075 35258075 + Frame_Shift_Del DEL A - - TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:35258075delA uc003oki.1 + 5 670 c.465delA c.(463-465)ggafs p.G155fs ZNF76_uc011dsy.1_Frame_Shift_Del_p.G155fs|ZNF76_uc011dsz.1_Frame_Shift_Del_p.G155fs|ZNF76_uc003okj.1_Frame_Shift_Del_p.G155fs NM_003427 NP_003418 P36508 ZNF76_HUMAN Homo sapiens zinc finger protein 76 (ZNF76), mRNA. 155 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 CCCGTAATGGAAAAGGGCAGC 0.532 --- 840 --- --- 7 --- HSP90AB1 3326 broad.mit.edu 37 6 44221052 44221052 + Frame_Shift_Del DEL T - - TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr6:44221052delT uc003oxa.1 + 10 2086 c.2002delT c.(2002-2004)tttfs p.F668fs HSP90AB1_uc011dvr.1_Frame_Shift_Del_p.F658fs|HSP90AB1_uc003oxb.1_Frame_Shift_Del_p.F668fs|HSP90AB1_uc011dvs.1_Frame_Shift_Del_p.F488fs|HSP90AB1_uc003oxc.1_Frame_Shift_Del_p.F306fs NM_007355 NP_031381 P08238 HS90B_HUMAN Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA. 668 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|TPR domain binding|nitric-oxide synthase regulator activity|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ATCTTCTGGCTTTTCCCTTGA 0.527 --- 1716 --- --- 11 --- TMEM184A 202915 broad.mit.edu 37 7 1586662 1586663 + In_Frame_Ins INS - GCC GCC rs3837151 by1000genomes TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:1586662_1586663insGCC uc003skv.4 - 8 1484_1485 c.1167_1168insGGC c.(1165-1170)insGGC p.389_390insG TMEM184A_uc003skt.4_In_Frame_Ins_p.368_369insG|TMEM184A_uc021zyr.1_In_Frame_Ins_p.194_195insG NM_001097620 NP_001091089 Q6ZMB5 T184A_HUMAN Homo sapiens transmembrane protein 184A (TMEM184A), mRNA. 389 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) GAGCCGCCGCTGGGGTGGGTGC 0.703 --- 134 --- --- 12 --- GIGYF1 64599 broad.mit.edu 37 7 100284335 100284337 + In_Frame_Del DEL CCT - - TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:100284335_100284337delCCT uc003uwg.1 - 6 1638_1640 c.629_631delAGG c.(628-633)gagggc>ggc p.E210del NM_022574 NP_072096 O75420 PERQ1_HUMAN Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA. 210 Poly-Glu. p.E210delE(2) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CTCCAGCTGCcctcctcctcctc 0.700 --- 188 --- --- 7 --- PODXL 5420 broad.mit.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC - - rs11277659 TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:131241030_131241035delGGCGAC uc003vqw.4 - 0 342_347 c.84_89delGTCGCC c.(82-90)ccgtcgccc>ccc p.28_30PSP>P PODXL_uc003vqx.4_In_Frame_Del_p.28_30PSP>P NM_001018111 NP_001018121 O00592 PODXL_HUMAN Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA. 28 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(4) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ATTCTGGGAGggcgacggcgacggcg 0.748 --- 14 --- --- 9 --- WDR60 55112 broad.mit.edu 37 7 158704353 158704353 + Frame_Shift_Del DEL A - - TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr7:158704353delA uc003woe.4 + 11 1731 c.1573delA c.(1573-1575)aaafs p.K525fs WDR60_uc010lqv.3_Non-coding_Transcript|WDR60_uc010lqw.3_Frame_Shift_Del_p.K157fs NM_018051 NP_060521 Q8WVS4 WDR60_HUMAN Homo sapiens WD repeat domain 60 (WDR60), mRNA. 525 p.G524R(1) NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) AAACTTTGGGAAAAAAAATAC 0.328 --- 255 --- --- 10 --- LOC642236 642236 broad.mit.edu 37 9 68438558 68438559 + Splice_Site INS - T T TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:68438558_68438559insT uc022bht.1 - 4 c.541_splice c.e4+1 Homo sapiens FSHD region gene 1 pseudogene (LOC642236), non-coding RNA. AGACACAAACCTTCTTTGTGTG 0.421 --- 229 --- --- 7 --- CEL 1056 broad.mit.edu 37 9 135941982 135941982 + Frame_Shift_Del DEL G - - TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr9:135941982delG uc010naa.1 + 4 629 c.613delG c.(613-615)gggfs p.G205fs NM_001807 NP_001798 P19835 CEL_HUMAN Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA. 202 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) CGCGGCCTTCGGGGGGGACCC 0.642 --- 521 --- --- 7 --- ARID5B 84159 broad.mit.edu 37 10 63852298 63852298 + Frame_Shift_Del DEL A - - TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:63852298delA uc001jlt.2 + 9 3532 c.3076delA c.(3076-3078)aaafs p.K1026fs ARID5B_uc001jlu.2_Frame_Shift_Del_p.K783fs NM_032199 NP_115575 Q14865 ARI5B_HUMAN Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA. 1026 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding p.G1025R(1) NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) GATTGCAGGGAAAAAGGCCCG 0.607 --- 337 --- --- 7 --- DOCK1 1793 broad.mit.edu 37 10 129224241 129224241 + Frame_Shift_Del DEL A - - TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr10:129224241delA uc010qun.2 + 46 4944 c.4880delA c.(4879-4881)gaafs p.E1627fs DOCK1_uc001ljt.3_Frame_Shift_Del_p.E1606fs|DOCK1_uc009yaq.3_Frame_Shift_Del_p.E601fs NM_001380 NP_001371 Q14185 DOCK1_HUMAN Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA. 1606 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CAGCTGAAGGAAAAGGTGGAG 0.532 --- 402 --- --- 7 --- PRB2 653247 broad.mit.edu 37 12 11546506 11546508 + In_Frame_Del DEL TTG - - TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:11546506_11546508delTTG uc010shk.1 - 2 539_541 c.504_506delCAA c.(502-507)aacaag>aag p.N168del NM_006248 NP_006239 Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA. NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACTTCGGGACTTGTTGTCTCCTT 0.596 --- 1046 --- --- 14 --- MBD6 114785 broad.mit.edu 37 12 57921001 57921002 + Frame_Shift_Ins INS - C C TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:57921001_57921002insC uc001soj.1 + 6 2297_2298 c.2073_2074insC c.(2071-2076)acacccfs p.T691fs MBD6_uc001sok.1_Frame_Shift_Ins_p.T558fs|MBD6_uc001sol.1_Non-coding_Transcript NM_052897 NP_443129 Q96DN6 MBD6_HUMAN Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA. 691 Pro-rich. chromosome|nucleus DNA binding|chromatin binding p.Q694fs*23(2) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 CCTCGGGGACACCCCCCCAGGT 0.559 --- 24 --- --- 16 --- PLBD2 196463 broad.mit.edu 37 12 113810537 113810537 + Frame_Shift_Del DEL G - - TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr12:113810537delG uc001tve.2 + 2 503 c.468delG c.(466-468)aagfs p.K156fs PLBD2_uc001tvf.2_Frame_Shift_Del_p.K156fs NM_173542 NP_775813 Q8NHP8 PLBL2_HUMAN Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA. 156 lipid catabolic process lysosomal lumen hydrolase activity breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 AGAGGCTGAAGAGCTTCCTGG 0.567 --- 113 --- --- 224 --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC - - TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr14:72190482_72190484delTCC uc001xms.3 + 15 4751_4753 c.4390_4392delTCC c.(4390-4392)tccdel p.S1468del SIPA1L1_uc001xmt.3_In_Frame_Del_p.S1447del|SIPA1L1_uc001xmu.3_In_Frame_Del_p.S1447del|SIPA1L1_uc001xmv.3_In_Frame_Del_p.S1468del|SIPA1L1_uc010ttm.2_In_Frame_Del_p.S922del NM_015556 NP_056371 O43166 SI1L1_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA. 1468 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ctcctcctcttcctcctcctcct 0.552 --- 330 --- --- 7 --- NLRP1 22861 broad.mit.edu 37 17 5463204 5463204 + Frame_Shift_Del DEL T - - TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:5463204delT uc002gci.3 - 3 1367 c.812delA c.(811-813)aatfs p.N271fs NLRP1_uc002gcg.1_Frame_Shift_Del_p.N271fs|NLRP1_uc002gch.4_Frame_Shift_Del_p.N271fs|NLRP1_uc002gck.3_Frame_Shift_Del_p.N271fs|NLRP1_uc002gcj.3_Frame_Shift_Del_p.N271fs|NLRP1_uc002gcl.3_Frame_Shift_Del_p.N271fs|NLRP1_uc010clh.3_Frame_Shift_Del_p.N271fs NM_033004 NP_127497 Q9C000 NALP1_HUMAN Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA. 271 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide NALP1 inflammasome complex|cytoplasm|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding p.K270*(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) AAAATCCTCATTTTTCCAGGG 0.537 --- 621 --- --- 7 --- TRPV2 51393 broad.mit.edu 37 17 16335490 16335492 + In_Frame_Del DEL TGC - - TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr17:16335490_16335492delTGC uc002gpy.3 + 11 2264_2266 c.1865_1867delTGC c.(1864-1869)gtgctg>gtg p.L627del TRPV2_uc002gpz.3_In_Frame_Del_p.L197del NM_016113 NP_057197 Q9Y5S1 TRPV2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA. 627 sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CGCGGCATGGTGCTGCTGCTGCT 0.596 --- 199 --- --- 12 --- ZNF43 7594 broad.mit.edu 37 19 22002025 22002026 + Splice_Site INS - A A TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:22002025_22002026insA uc002nqj.3 - 2 134 c.4_splice c.e2-1 p.G2_splice ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron NM_003423 NP_003414 P17038 ZNF43_HUMAN Homo sapiens zinc finger protein 43 (ZNF43), mRNA. 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.?(1) 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) CAATGGTCCCTAAAAAAAACAA 0.386 --- 237 --- --- 7 --- FFAR2 2867 broad.mit.edu 37 19 35940788 35940790 + In_Frame_Del DEL CTG - - TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr19:35940788_35940790delCTG uc002nzg.2 + 1 252_254 c.172_174delCTG c.(172-174)ctgdel p.L62del FFAR2_uc010eea.3_In_Frame_Del_p.L62del NM_005306 NP_005297 O15552 FFAR2_HUMAN Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA. 62 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGACCTCCTCCTGCTGCTGCTGC 0.645 --- 107 --- --- 7 --- NKX2-2 4821 broad.mit.edu 37 20 21493012 21493013 + Frame_Shift_Ins INS - C C TCGA-FR-A3R1-01A-11D-A23B-08 TCGA-FR-A3R1-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e69d5db-81ff-46bd-92ff-2d7e9bf230a2 4b627221-d0a9-42ac-9ceb-3ca76c0187e5 g.chr20:21493012_21493013insC uc002wsi.3 - 1 727_728 c.370_371insG c.(370-372)gacfs p.D124fs NM_002509 NP_002500 O95096 NKX22_HUMAN Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA. 124 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity p.D124fs*>151(2) endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 CTTGCCGGCGTCCCCCCCGCCG 0.703 --- 30 --- --- 13 ---