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 CHD4 1108 broad.mit.edu 37 12 6702774 6702774 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:6702774G>A uc001qpo.3 - 15 2486 c.2322C>T c.(2320-2322)tcC>tcT p.S774S CHD4_uc001qpn.3_Silent_p.S767S|CHD4_uc001qpp.3_Silent_p.S771S NM_001273 NP_001264 Q14839 CHD4_HUMAN Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA. 774 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NuRD complex|microtubule organizing center ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 AGGGGCCTTTGGAATGACCCT 0.557000 53 25 0 0 0.004656 0 0 BAHD1 22893 broad.mit.edu 37 15 40758311 40758311 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:40758311C>T uc001zlu.2 + 6 2396 c.2325C>T c.(2323-2325)atC>atT p.I775I BAHD1_uc001zlt.2_Silent_p.I774I|BAHD1_uc010bbp.1_Silent_p.I771I|BAHD1_uc001zlv.2_Silent_p.I772I NM_014952 NP_055767 Q8TBE0 BAHD1_HUMAN Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA. 775 BAH. heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome DNA binding|chromatin binding|protein binding NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 28 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) ACGGGCGCATCCTTAAGAACC 0.617000 77 38 0 0 0.006230 0 0 abParts 0 broad.mit.edu 37 14 106610537 106610537 + RNA SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:106610537C>T uc021ser.1 - 1671 c.32034G>A Parts of antibodies, mostly variable regions. AAAGTGAATCCAGAGGCTGCA 0.582000 75 50 0 0 0.003610 0 0 KRT76 51350 broad.mit.edu 37 12 53170560 53170560 + Silent SNP G A A rs146014128 TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:53170560G>A uc001sax.3 - 0 570 c.516C>T c.(514-516)atC>atT p.I172I NM_015848 NP_056932 Q01546 K22O_HUMAN Homo sapiens keratin 76 (KRT76), mRNA. 172 Head. cytoskeleton organization keratin filament structural molecule activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TCTGGGGGTCGATCTCCACAT 0.557000 41 27 0 0 0.009535 0 0 BRF2 55290 broad.mit.edu 37 8 37704431 37704431 + Silent SNP G T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:37704431G>T uc003xkk.3 - 2 607 c.477C>A c.(475-477)ctC>ctA p.L159L NM_018310 NP_060780 Q9HAW0 BRF2_HUMAN Homo sapiens BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like (BRF2), mRNA. 159 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1) 12 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) CCAGTCCCAGGAGCTTCACTA 0.532000 65 197 1.47202e-86 1.62089e-86 0.003610 1 0 ZNF559 84527 broad.mit.edu 37 19 9452399 9452399 + Missense_Mutation SNP T A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:9452399T>A uc002mle.4 + 5 871 c.464T>A c.(463-465)tTt>tAt p.F155Y ZNF559_uc002mld.3_3'UTR|ZNF559_uc021uoj.1_Missense_Mutation_p.F49Y|ZNF559_uc010xkn.2_Missense_Mutation_p.F83Y|ZNF559_uc021uok.1_Missense_Mutation_p.F91Y|ZNF559_uc021uol.1_3'UTR|ZNF559_uc010dwk.2_3'UTR|ZNF559_uc002mlf.3_3'UTR|ZNF559_uc010dwl.2_3'UTR|ZNF559_uc021uom.1_3'UTR|ZNF177_uc002mli.3_Intron|ZNF177_uc002mlj.3_Intron NM_001202406 NP_001189335 Q9BR84 ZN559_HUMAN Homo sapiens zinc finger protein 559 (ZNF559), transcript variant 1, mRNA. 91 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 GAGGAACTGTTTGACTTTAAC 0.353000 34 17 0 0 0.007413 0 0 PKP1 5317 broad.mit.edu 37 1 201263089 201263089 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:201263089G>A uc001gwd.3 + 1 473 c.222G>A c.(220-222)ttG>ttA p.L74L PKP1_uc001gwe.3_Silent_p.L74L|PKP1_uc009wzm.3_5'UTR NM_000299 NP_000290 Q13835 PKP1_HUMAN Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA. 74 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1) 22 ATGATGGCTTGGCTGACAATT 0.522000 19 8 0 0 0.008291 0 0 VGLL4 9686 broad.mit.edu 37 3 11643403 11643404 + Missense_Mutation DNP GG AA AA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:11643403_11643404GG>AA uc010hdx.1 - 1 581_582 c.175_176CC>TT c.(175-177)ccc>TTc p.P59F VGLL4_uc003bwf.2_Missense_Mutation_p.P53F|VGLL4_uc003bwg.2_Missense_Mutation_p.P58F|VGLL4_uc011aun.1_5'UTR NM_001128219 NP_001121691 Q14135 VGLL4_HUMAN Homo sapiens vestigial like 4 (Drosophila) (VGLL4), transcript variant 1, mRNA. 53 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111) CCTCTTGCTGGGGCTGATTGGG 0.599000 53 31 0 0 0.004672 0 0 NDUFAB1 4706 broad.mit.edu 37 16 23598636 23598636 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:23598636G>A uc002dlw.3 - 1 201 c.173C>T c.(172-174)cCt>cTt p.P58L NM_005003 NP_004994 O14561 ACPM_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa (NDUFAB1), nuclear gene encoding mitochondrial protein, mRNA. 58 fatty acid biosynthetic process|mitochondrial electron transport, NADH to ubiquinone mitochondrial matrix|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|acyl carrier activity|calcium ion binding|cofactor binding|fatty acid binding|phosphopantetheine binding endometrium(1)|large_intestine(1)|lung(1) 3 GBM - Glioblastoma multiforme(48;0.0339) NADH(DB00157) AACTCTACCAGGAACCTAGAG 0.463000 23 9 0 0 0.004482 0 0 GRWD1 83743 broad.mit.edu 37 19 48956137 48956137 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:48956137G>A uc002pjd.2 + 6 1429 c.1196G>A c.(1195-1197)gGa>gAa p.G399E KCNJ14_uc002pje.1_5'Flank NM_031485 NP_113673 Q9BQ67 GRWD1_HUMAN Homo sapiens glutamate-rich WD repeat containing 1 (GRWD1), mRNA. 399 nucleolus p.P398P(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1) 19 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222) GCCGACCCCGGACTGGCCGAC 0.697000 36 17 0 0 0.004007 0 0 NF1 4763 broad.mit.edu 37 17 29509639 29509639 + Nonsense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d 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) 18 10 0 0 0.006214 0 0 SNX19 399979 broad.mit.edu 37 11 130781576 130781576 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:130781576G>A uc001qgk.4 - 1 2313 c.1765C>T c.(1765-1767)Ctg>Ttg p.L589L SNX19_uc010sce.2_5'UTR|SNX19_uc010scf.2_Silent_p.L32L|SNX19_uc010scg.2_5'UTR|SNX19_uc001qgl.3_Silent_p.L589L|SNX19_uc009zcx.1_Non-coding_Transcript NM_014758 NP_055573 Q92543 SNX19_HUMAN Homo sapiens sorting nexin 19 (SNX19), mRNA. 589 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) CGGGTCTGCAGATTCAAGAAC 0.552000 12 33 0 0 0.002836 0 0 CACNB4 785 broad.mit.edu 37 2 152698471 152698471 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:152698471C>T uc002tya.3 - 12 1316 c.1248G>A c.(1246-1248)agG>agA p.R416R CACNB4_uc002txy.3_Silent_p.R382R|CACNB4_uc002txz.3_Silent_p.R398R|CACNB4_uc010fnz.3_Intron NM_000726 NP_000717 O00305 CACB4_HUMAN Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA. 416 axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) AGCCCAAATTCCTTCCCAGCA 0.502000 82 36 0 0 0.010771 0 0 ST13 6767 broad.mit.edu 37 22 41244318 41244318 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:41244318G>A uc003aze.3 - 2 367 c.224C>T c.(223-225)tCa>tTa p.S75L ST13_uc011aow.2_Missense_Mutation_p.S65L NM_003932 NP_003923 P50502 F10A1_HUMAN Homo sapiens suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) (ST13), mRNA. 75 protein binding, bridging cervix(1)|large_intestine(1)|lung(3)|skin(1) 6 TTCCTCACTTGATGGTTCGTC 0.348000 30 13 0 0 0.003163 0 0 RABL3 285282 broad.mit.edu 37 3 120424951 120424951 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:120424951G>A uc003edx.3 - 3 309 c.279C>T c.(277-279)ttC>ttT p.F93F NM_173825 NP_776186 Q5HYI8 RABL3_HUMAN Homo sapiens RAB, member of RAS oncogene family-like 3 (RABL3), mRNA. 93 Small GTPase-like. small GTPase mediated signal transduction GTP binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10) 17 GBM - Glioblastoma multiforme(114;0.151) AGTCGTGTACGAAAATAATAC 0.378000 30 19 0 0 0.010504 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79974915 79974915 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:79974915C>T uc002kcy.3 + 15 1953 c.1856C>T c.(1855-1857)cCt>cTt p.P619L ASPSCR1_uc002kcx.3_Missense_Mutation_p.P525L|ASPSCR1_uc021ufj.1_Missense_Mutation_p.P448L|ASPSCR1_uc002kda.3_Missense_Mutation_p.P473L NM_001251888 NP_001238817 Q9BZE9 ASPC1_HUMAN Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA. 525 protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CTGGTCCCCCCTGAGCCCATC 0.692000 T TFE3 alveolar soft part sarcoma 16 12 0 0 0.004007 0 0 GPX6 257202 broad.mit.edu 37 6 28472125 28472125 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:28472125C>T uc021yrx.1 - 4 660 c.610G>A c.(610-612)Gtc>Atc p.V204I GPX6_uc010jrg.1_Non-coding_Transcript NM_182701 NP_874360 P59796 GPX6_HUMAN Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA. 204 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) ACTGTGCTGACTGGAGCCTGG 0.522000 53 49 0 0 0.003610 0 0 GUCY2C 2984 broad.mit.edu 37 12 14829847 14829847 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:14829847G>A uc001rcd.3 - 6 1026 c.889C>T c.(889-891)Ctg>Ttg p.L297L GUCY2C_uc009zhz.2_Silent_p.L297L NM_004963 NP_004954 P25092 GUC2C_HUMAN Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA. 297 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 GACAGCGTCAGAACAAGGACA 0.348000 31 15 0 0 0.004990 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20868209 20868209 + Silent SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:20868209T>C uc010sii.2 + 6 1021 c.666T>C c.(664-666)gcT>gcC p.A222A SLCO1C1_uc010sij.2_Intron|SLCO1C1_uc009zip.3_Silent_p.A56A|SLCO1C1_uc001rei.3_Silent_p.A222A|SLCO1C1_uc010sik.2_Silent_p.A104A NM_001145946 NP_001139416 Q9NYB5 SO1C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA. 222 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) ACAATGCAGCTTTCTATATTG 0.423000 42 18 0 0 0.006122 0 0 SPTBN4 57731 broad.mit.edu 37 19 41008109 41008109 + Nonsense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:41008109G>A uc002ony.3 + 8 1058 c.972G>A c.(970-972)tgG>tgA p.W324* SPTBN4_uc002onx.3_Nonsense_Mutation_p.W324*|SPTBN4_uc002onz.3_Nonsense_Mutation_p.W324* NM_020971 NP_066022 Q9H254 SPTN4_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA. 324 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport PML body|cytosol|nuclear matrix|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) TGCTGGCCTGGATCCACCGCA 0.582000 50 42 0 0 0.013114 0 0 C10orf140 387640 broad.mit.edu 37 10 21804515 21804516 + Missense_Mutation DNP GG AA AA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:21804515_21804516GG>AA uc009xkd.3 - 3 4489_4490 c.2236_2237CC>TT c.(2236-2238)cct>TTt p.P746F AK055656_uc001iqp.1_Intron|C10orf140_uc021pnx.1_Missense_Mutation_p.P746F NM_207371 NP_997254 Q1XH10 DLN1_HUMAN Homo sapiens chromosome 10 open reading frame 140 (C10orf140), mRNA. 665 nucleus nucleotide binding kidney(1)|large_intestine(8)|lung(9)|ovary(1)|soft_tissue(1)|urinary_tract(1) 21 ATTTAAGGAAGGAGTTTCTTTT 0.446000 130 81 0 0 0.004672 0 0 MYO15A 51168 broad.mit.edu 37 17 18023051 18023051 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:18023051G>A uc021trm.1 + 0 1156 c.937G>A c.(937-939)Gaa>Aaa p.E313K MYO15A_uc021trl.1_Missense_Mutation_p.E313K NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 313 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium ATP binding|actin binding|calmodulin binding|motor activity p.E313K(2) breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CGACGATTACGAACCCCCATA 0.612000 46 23 0 0 0.002780 0 0 PDGFRB 5159 broad.mit.edu 37 5 149498406 149498406 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:149498406G>A uc003lro.3 - 20 3277 c.2808C>T c.(2806-2808)atC>atT p.I936I PDGFRB_uc010jhd.3_Silent_p.I775I NM_002609 NP_002600 P09619 PGFRB_HUMAN Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA. 936 Protein kinase. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) ACTTCTGCATGATCTCATAGC 0.582000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 54 22 0 0 0.012319 0 0 MPRIP 23164 broad.mit.edu 37 17 17062245 17062245 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:17062245G>A uc002gqv.2 + 13 2064 c.1975G>A c.(1975-1977)Gtc>Atc p.V659I MPRIP_uc002gqu.2_Missense_Mutation_p.V659I|MPRIP_uc002gqw.2_Missense_Mutation_p.V414I NM_015134 NP_055949 Q6WCQ1 MPRIP_HUMAN Homo sapiens myosin phosphatase Rho interacting protein (MPRIP), transcript variant 1, mRNA. 659 Interaction with RHOA. cytoplasm|cytoskeleton actin binding biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 CATCGCCCCCGTCCACCTGTC 0.602000 18 9 0 0 0.006214 0 0 KNDC1 85442 broad.mit.edu 37 10 134999848 134999848 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:134999848C>T uc001llz.1 + 5 997 c.996C>T c.(994-996)ccC>ccT p.P332P KNDC1_uc001lma.1_Silent_p.P267P NM_152643 NP_689856 Q76NI1 VKIND_HUMAN Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA. 332 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GCCAGCTGCCCATATCGGAAT 0.622000 23 6 0 0 0.003080 0 0 ZNF267 10308 broad.mit.edu 37 16 31926233 31926233 + Silent SNP T G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:31926233T>G uc002ecs.4 + 3 872 c.663T>G c.(661-663)tcT>tcG p.S221S NM_003414 NP_003405 Q14586 ZN267_HUMAN Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA. 221 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 41 GCAATAATTCTGAAAAAACCT 0.289000 13 9 0 0 0.006214 0 0 CYP21A2 1589 broad.mit.edu 37 6 32007017 32007017 + Missense_Mutation SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:32007017T>C uc003nze.2 + 2 546 c.439T>C c.(439-441)Ttc>Ctc p.F147L CYP21A2_uc003nzf.2_Missense_Mutation_p.F117L NM_000500 NP_000491 P08686 CP21A_HUMAN Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA. 146 glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 11 GACCCAGGAGTTCTGTGAGGT 0.657000 247 70 0 0 0.003610 0 0 ABCA2 20 broad.mit.edu 37 9 139915193 139915193 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:139915193G>A uc004ckm.1 - 8 1355 c.1305C>T c.(1303-1305)ttC>ttT p.F435F ABCA2_uc022bpy.1_Silent_p.F336F|ABCA2_uc022bpz.1_Silent_p.F406F|ABCA2_uc011mem.1_Silent_p.F405F|ABCA2_uc004ckl.1_Silent_p.F336F|ABCA2_uc004ckn.1_5'Flank|ABCA2_uc004cko.1_Silent_p.F182F|ABCA2_uc010nca.3_Silent_p.F336F NM_212533 NP_997698 Q9BZC7 ABCA2_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA. 405 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) AGAGCTGTACGAAGGCTGAGC 0.697000 1 7 0 0 0.004482 0 0 TP53BP1 7158 broad.mit.edu 37 15 43748789 43748789 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:43748789G>A uc001zrs.3 - 11 2150 c.2002C>T c.(2002-2004)Cct>Tct p.P668S TP53BP1_uc010udp.2_Missense_Mutation_p.P668S|TP53BP1_uc001zrq.4_Missense_Mutation_p.P673S|TP53BP1_uc001zrr.4_Missense_Mutation_p.P673S|TP53BP1_uc010udq.1_Missense_Mutation_p.P673S NM_005657 NP_005648 Q12888 TP53B_HUMAN Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA. 668 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GGTGTCTCAGGGATTTCTTCC 0.458000 Other conserved DNA damage response genes 54 40 0 0 0.006999 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41033239 41033239 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:41033239G>A uc003jmj.4 - 22 2755 c.2265C>T c.(2263-2265)ttC>ttT p.F755F HEATR7B2_uc003jmi.4_Silent_p.F310F NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 755 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 TGCTTCTTGTGAAACTCATTT 0.433000 24 13 0 0 0.002450 0 0 DNAH8 1769 broad.mit.edu 37 6 38771046 38771046 + Missense_Mutation SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:38771046T>C uc021yzh.1 + 21 3102 c.2993T>C c.(2992-2994)aTt>aCt p.I998T DNAH8_uc003ooe.2_Missense_Mutation_p.I781T NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TTTGAGCAGATTTATGAAGTG 0.343000 39 11 0 0 0.008291 0 0 DMXL2 23312 broad.mit.edu 37 15 51829948 51829948 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:51829948G>A uc010ufy.2 - 10 1579 c.1354C>T c.(1354-1356)Ctg>Ttg p.L452L DMXL2_uc002abf.3_Silent_p.L452L|DMXL2_uc010bfa.3_Silent_p.L452L NM_001174116 NP_001167587 Q8TDJ6 DMXL2_HUMAN Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA. 452 cell junction|synaptic vesicle membrane Rab GTPase binding p.L452L(1) 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) TCTCTATCCAGGGATAAATCT 0.333000 23 7 0 0 0.003080 0 0 HSF1 3297 broad.mit.edu 37 8 145535748 145535748 + Silent SNP C T T rs143898779 TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:145535748C>T uc003zbt.4 + 8 1130 c.960C>T c.(958-960)tcC>tcT p.S320S HSF1_uc003zbu.4_Non-coding_Transcript NM_005526 NP_005517 Q00613 HSF1_HUMAN Homo sapiens heat shock transcription factor 1 (HSF1), mRNA. 320 cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) GCCCATCTTCCGTGGACACCC 0.711000 15 34 0 0 0.006230 0 0 TRPM7 54822 broad.mit.edu 37 15 50905939 50905939 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:50905939G>A uc001zyt.4 - 14 2017 c.1735C>T c.(1735-1737)Cat>Tat p.H579Y TRPM7_uc010bew.2_Missense_Mutation_p.H579Y|TRPM7_uc001zyu.3_Missense_Mutation_p.H137Y NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA. 579 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TTAATGAAATGGTTATGCCTC 0.363000 7 8 0 0 0.003080 0 0 RYR1 6261 broad.mit.edu 37 19 39051930 39051930 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:39051930C>T uc002oit.3 + 89 12590 c.12460C>T c.(12460-12462)Ccg>Tcg p.P4154S RYR1_uc002oiu.3_Missense_Mutation_p.P4149S|RYR1_uc002oiv.1_Missense_Mutation_p.P1063S NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 4154 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 p.P4154P(1) 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) GGAGCATGTGCCGCATGACCC 0.617000 37 24 0 0 0.003330 0 0 CYP2C9 1559 broad.mit.edu 37 10 96745900 96745900 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:96745900G>A uc001kka.4 + 7 1285 c.1260G>A c.(1258-1260)aaG>aaA p.K420K CYP2C9_uc009xut.3_Silent_p.K418K NM_000771 NP_000762 P11712 CP2C9_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA. 420 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) GCAATTTTAAGAAAAGTAAAT 0.348000 32 27 0 0 0.004656 0 0 CD300LD 100131439 broad.mit.edu 37 17 72584678 72584678 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:72584678C>T uc002jkz.2 - 1 380 c.351G>A c.(349-351)ggG>ggA p.G117G C17orf77_uc002jla.1_Intron NM_001115152 NP_001108624 Q6UXZ3 CLM4_HUMAN Homo sapiens CD300 molecule-like family member d (CD300LD), mRNA. 117 Ig-like V-type. integral to membrane|plasma membrane receptor activity large_intestine(1)|lung(2)|prostate(1)|stomach(1) 5 GAACTTTGACCCCAAGATCAA 0.483000 107 28 0 0 0.010818 0 0 CCDC88C 440193 broad.mit.edu 37 14 91772235 91772235 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:91772235C>T uc010aty.3 - 18 3385 c.3231G>A c.(3229-3231)aaG>aaA p.K1077K NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA. 1077 Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation cytoplasm|insoluble fraction PDZ domain binding|microtubule binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) GCAGCTGTTCCTTTAGCAGCT 0.537000 26 12 0 0 0.001855 0 0 NLRP5 126206 broad.mit.edu 37 19 56520162 56520162 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:56520162C>T uc002qmj.3 + 2 451 c.451C>T c.(451-453)Cca>Tca p.P151S NLRP5_uc002qmi.3_Missense_Mutation_p.P151S NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 151 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) AGGACATTCACCAGAAGATCC 0.463000 10 10 0 0 0.010729 0 0 HCN3 57657 broad.mit.edu 37 1 155257071 155257071 + Missense_Mutation SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:155257071T>C uc001fjz.1 + 6 1593 c.1585T>C c.(1585-1587)Ttc>Ctc p.F529L HCN3_uc010pfz.1_Missense_Mutation_p.F224L NM_020897 NP_065948 Q9P1Z3 HCN3_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA. 529 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCTTGAGGAGTTCCCCATGAT 0.607000 79 22 0 0 0.003330 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 181635 181635 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:181635G>A uc003jak.2 + 16 3391 c.3341G>A c.(3340-3342)aGa>aAa p.R1114K NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA. 1114 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) TTAGAACTCAGAATCCAAGAA 0.532000 41 21 0 0 0.002780 0 0 GPR126 57211 broad.mit.edu 37 6 142725021 142725021 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:142725021G>A uc010khe.3 + 13 2449 c.2038G>A c.(2038-2040)Gct>Act p.A680T GPR126_uc010khc.3_Missense_Mutation_p.A680T|GPR126_uc010khd.3_Missense_Mutation_p.A652T|GPR126_uc010khf.3_Missense_Mutation_p.A652T NM_198569 NP_940971 Q86SQ4 GP126_HUMAN Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA. 680 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.A680P(1)|p.A651P(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) TCGGAACTTGGCTCTCAGCGT 0.368000 19 21 0 0 0.010504 0 0 C1orf106 55765 broad.mit.edu 37 1 200868618 200868618 + Missense_Mutation SNP T A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:200868618T>A uc001gvo.3 + 2 370 c.328T>A c.(328-330)Tcc>Acc p.S110T C1orf106_uc010ppm.2_Missense_Mutation_p.S25T NM_018265 NP_001136041 Q3KP66 CA106_HUMAN Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA. 110 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 CAGCCCGGTCTCCCCAATGAA 0.627000 28 55 0 0 0.003610 0 0 C17orf49 124944 broad.mit.edu 37 17 6920597 6920597 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:6920597G>A uc002ged.3 + 5 1249 c.536G>A c.(535-537)gGc>gAc p.G179D C17orf49_uc002gec.3_3'UTR|C17orf49_uc010vti.2_3'UTR|MIR497HG_uc021tox.1_Non-coding_Transcript NM_001142798 NP_001136270 Q8IXM2 BAP18_HUMAN Homo sapiens chromosome 17 open reading frame 49 (C17orf49), transcript variant 1, mRNA. 0 chromatin modification MLL1 complex|NURF complex DNA binding kidney(1)|large_intestine(2)|ovary(1) 4 CTGGATTCTGGCCTTCTCATG 0.582000 78 51 0 0 0.003610 0 0 GRIA1 2890 broad.mit.edu 37 5 153085278 153085278 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:153085278C>T uc011dcy.2 + 10 1531 c.1504C>T c.(1504-1506)Ccc>Tcc p.P502S GRIA1_uc003lva.4_Missense_Mutation_p.P492S|GRIA1_uc003luy.4_Missense_Mutation_p.P492S|GRIA1_uc003luz.4_Missense_Mutation_p.P397S|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.P412S|GRIA1_uc011dcx.2_Missense_Mutation_p.P423S|GRIA1_uc011dcz.2_Missense_Mutation_p.P502S|GRIA1_uc010jia.1_Missense_Mutation_p.P472S NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 492 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GGCTGTGGCTCCCTTAACTAT 0.358000 20 12 0 0 0.010729 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125555887 125555887 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:125555887C>T uc010flu.3 + 18 3571 c.3207C>T c.(3205-3207)ctC>ctT p.L1069L CNTNAP5_uc002tno.3_Silent_p.L1068L NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 1068 Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TTGTTCTGCTCTGCAAGAATG 0.498000 20 12 0 0 0.010729 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140264094 140264094 + Silent SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:140264094T>C uc003lif.2 + 0 2241 c.2241T>C c.(2239-2241)agT>agC p.S747S 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_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.S747S|PCDHAC2_uc003lid.3_Silent_p.S747S NM_018904 NP_061727 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA. 784 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) CGGCAGGGAGTTGGTCGTACT 0.682000 41 19 0 0 0.008871 0 0 C3orf30 152405 broad.mit.edu 37 3 118865748 118865748 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:118865748C>T uc003ecb.1 + 0 752 c.712C>T c.(712-714)Cct>Tct p.P238S IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.P238S NM_152539 NP_689752 Q96M34 CC030_HUMAN Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA. 238 p.S237R(1) NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) TGACCAAAGTCCTTCTGTACA 0.458000 52 31 0 0 0.012213 0 0 ATIC 471 broad.mit.edu 37 2 216197195 216197195 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:216197195C>T uc002vex.4 + 7 966 c.779C>T c.(778-780)cCa>cTa p.P260L ATIC_uc010zjo.2_Missense_Mutation_p.P201L|ATIC_uc002vey.4_Missense_Mutation_p.P259L NM_004044 NP_004035 P31939 PUR9_HUMAN Homo sapiens 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC), mRNA. 260 IMP biosynthetic process|purine base metabolic process cytosol IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity ATIC/ALK(24) large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 8 Renal(323;0.229) Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097) Tetrahydrofolic acid(DB00116) TTAGGTATTCCAGCCGCTGCC 0.443000 T ALK ALCL 30 17 0 0 0.006122 0 0 IGSF1 3547 broad.mit.edu 37 X 130412036 130412036 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:130412036C>T uc004ewe.4 - 12 2412 c.2129G>A c.(2128-2130)gGa>gAa p.G710E IGSF1_uc004ewd.3_Missense_Mutation_p.G705E|IGSF1_uc022cdv.1_Missense_Mutation_p.G696E|IGSF1_uc004ewf.2_Missense_Mutation_p.G685E NM_001170961 NP_001164432 Q8N6C5 IGSF1_HUMAN Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA. 705 Ig-like C2-type 7. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 TGCCAGCCATCCTTTGCACCG 0.517000 13 73 0 0 0.003610 0 0 CCR9 10803 broad.mit.edu 37 3 45943373 45943374 + Missense_Mutation DNP GG AA AA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:45943373_45943374GG>AA uc003coz.2 + 2 1273_1274 c.1093_1094GG>AA c.(1093-1095)gga>AAa p.G365K LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.2_Missense_Mutation_p.G353K|CCR9_uc003cpa.2_Missense_Mutation_p.G353K|CCR9_uc021wwv.1_Missense_Mutation_p.G353K NM_031200 NP_006632 P51686 CCR9_HUMAN Homo sapiens chemokine (C-C motif) receptor 9 (CCR9), transcript variant A, mRNA. 365 cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214) GACAACCTCAGGAGCACTCTCC 0.500000 28 14 0 0 0.004672 0 0 CATSPERB 79820 broad.mit.edu 37 14 92047331 92047331 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:92047331G>A uc001xzs.1 - 26 3393 c.3253C>T c.(3253-3255)Ccg>Tcg p.P1085S CATSPERB_uc010aub.1_Missense_Mutation_p.P607S NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA. 1085 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) GTCCTCCACGGATGGATGCCT 0.428000 51 19 0 0 0.007413 0 0 ECE2 9718 broad.mit.edu 37 3 184008850 184008850 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:184008850G>A uc003fni.4 + 16 2249 c.2211G>A c.(2209-2211)ggG>ggA p.G737G ECE2_uc011brh.1_Silent_p.G590G|ECE2_uc003fnl.4_Silent_p.G665G|ECE2_uc003fnm.4_Silent_p.G619G|ECE2_uc003fnk.4_Silent_p.G590G|ECE2_uc011bri.1_Silent_p.G652G|ECE2_uc010hxv.3_3'UTR NM_014693 NP_055508 O60344 ECE2_HUMAN Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA. 737 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing Golgi membrane|cytoplasmic vesicle membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ACAAAGAAGGGAACCTGCGGC 0.597000 59 15 0 0 0.004007 0 0 SACS 26278 broad.mit.edu 37 13 23912516 23912516 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr13:23912516G>A uc001uon.2 - 9 6088 c.5499C>T c.(5497-5499)tcC>tcT p.S1833S SACS_uc001uoo.2_Silent_p.S1686S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 1833 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding p.S1686S(1)|p.S1833S(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TCTCACTCAGGGAAAACTTCA 0.478000 31 38 0 0 0.006999 0 0 RAP1GAP 5909 broad.mit.edu 37 1 21940574 21940574 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:21940574G>A uc001bev.3 - 4 318 c.300C>T c.(298-300)ttC>ttT p.F100F RAP1GAP_uc001bew.3_Silent_p.F164F|RAP1GAP_uc001bey.3_Silent_p.F100F|RAP1GAP_uc001bex.3_Silent_p.F100F NM_001145657 NP_001139129 P47736 RPGP1_HUMAN Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA. 100 regulation of Ras GTPase activity|signal transduction Golgi membrane|cytosol|membrane fraction GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) AGTAGTAATTGAAATGCTCCT 0.587000 11 3 0 0 0.004672 0 0 XPC 7508 broad.mit.edu 37 3 14199529 14199529 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:14199529C>T uc011ave.2 - 8 1958 c.1854G>A c.(1852-1854)gaG>gaA p.E618E XPC_uc011avf.2_Silent_p.E425E|XPC_uc011avg.2_Silent_p.E581E|XPC_uc021wtl.1_Intron|XPC_uc021wtm.1_Silent_p.E106E NM_004628 NP_004619 Q01831 XPC_HUMAN Homo sapiens xeroderma pigmentosum, complementation group C (XPC), transcript variant 1, mRNA. 618 DNA-binding; preference for heteroduplex DNA.|Interaction with RAD23B.|Minimal sensor domain involved in damage recognition. 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 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 CTTCTTTCTTCTCCCTGTCCA 0.512000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 149 18 0 0 0.010504 0 0 SEMA3G 56920 broad.mit.edu 37 3 52476769 52476769 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:52476769G>A uc003dea.1 - 1 270 c.270C>T c.(268-270)ccC>ccT p.P90P NM_020163 NP_064548 Q9NS98 SEM3G_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA. 90 Sema. multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) TCACCTCCCGGGGATCTGGCC 0.617000 22 15 0 0 0.006122 0 0 KLHL22 84861 broad.mit.edu 37 22 20825682 20825682 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:20825682G>A uc002zsl.2 - 2 505 c.348C>T c.(346-348)agC>agT p.S116S KLHL22_uc011ahr.2_Intron NM_032775 NP_116164 Q53GT1 KLH22_HUMAN Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA. 116 BTB. cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CATTGCTCAGGCTGAGCTCCA 0.537000 43 33 0 0 0.010818 0 0 DNAH17 8632 broad.mit.edu 37 17 76455098 76455098 + Silent SNP G T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:76455098G>T uc010dhp.2 - 60 9971 c.9846C>A c.(9844-9846)atC>atA p.I3282I DNAH17_uc002jvs.3_Non-coding_Transcript NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCTTGTTTTTGATCCGGGACA 0.582000 72 23 7.87624e-14 8.59494e-14 0.002780 1 0 PCLO 27445 broad.mit.edu 37 7 82584810 82584810 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:82584810C>T uc003uhx.2 - 4 5748 c.5459G>A c.(5458-5460)aGg>aAg p.R1820K PCLO_uc003uhv.2_Missense_Mutation_p.R1820K NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 1751 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 TGGCCTTTCCCTTCTTCTCTG 0.428000 169 136 0 0 0.003610 0 0 SCGB1C1 147199 broad.mit.edu 37 11 193724 193724 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:193724G>A uc001loa.1 + 1 88 c.68G>A c.(67-69)gGg>gAg p.G23E NM_145651 NP_663626 Q8TD33 SG1C1_HUMAN Homo sapiens secretoglobin, family 1C, member 1 (SCGB1C1), mRNA. 23 extracellular region binding endometrium(1)|liver(2)|lung(1)|skin(1) 5 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) ATGGCCACAGGGGAGGACAAC 0.582000 35 9 0 0 0.004482 0 0 CD207 50489 broad.mit.edu 37 2 71058882 71058882 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:71058882C>T uc002shg.3 - 4 833 c.786G>A c.(784-786)ggG>ggA p.G262G NM_015717 NP_056532 Q9UJ71 CLC4K_HUMAN Homo sapiens CD207 molecule, langerin (CD207), mRNA. 262 C-type lectin. defense response to virus endocytic vesicle|integral to membrane mannose binding endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 AGGACCAGTCCCCTTCCATCC 0.567000 61 34 0 0 0.006999 0 0 C12orf56 115749 broad.mit.edu 37 12 64664335 64664335 + Missense_Mutation SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:64664335T>C uc021qzu.1 - 11 1744 c.1744A>G c.(1744-1746)Aac>Gac p.N582D BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Missense_Mutation_p.N422D|C12orf56_uc001srz.3_Missense_Mutation_p.N64D|C12orf56_uc001sry.3_Missense_Mutation_p.N164D NM_001170633 NP_001164104 Q8IXR9 CL056_HUMAN Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA. 585 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1) 15 GBM - Glioblastoma multiforme(3;0.000582) GBM - Glioblastoma multiforme(28;0.0259) TCTCTGTAGTTATTCCTAATA 0.418000 6 5 0 0 0.001168 0 0 ESRRG 2104 broad.mit.edu 37 1 216692670 216692670 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:216692670G>A uc001hkw.2 - 5 1129 c.956C>T c.(955-957)tCg>tTg p.S319L ESRRG_uc009xdp.1_Missense_Mutation_p.S296L|ESRRG_uc001hky.1_Missense_Mutation_p.S296L|ESRRG_uc001hkz.2_Missense_Mutation_p.S257L|ESRRG_uc010puc.2_Missense_Mutation_p.S296L|ESRRG_uc001hla.2_Missense_Mutation_p.S296L|ESRRG_uc001hlb.2_Missense_Mutation_p.S296L|ESRRG_uc010pud.2_Missense_Mutation_p.S134L|ESRRG_uc021pja.1_Missense_Mutation_p.S68L|ESRRG_uc001hlc.1_Missense_Mutation_p.S296L|ESRRG_uc001hld.1_Missense_Mutation_p.S296L|ESRRG_uc001hkx.2_Missense_Mutation_p.S331L|ESRRG_uc009xdo.2_Missense_Mutation_p.S296L|ESRRG_uc001hle.2_Missense_Mutation_p.S296L|ESRRG_uc021piz.1_Missense_Mutation_p.S296L NM_001438 NP_001230435 P62508 ERR3_HUMAN Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA. 319 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) ATCCTCAAACGAAAGAGACCG 0.473000 68 18 0 0 0.004990 0 0 ODZ3 55714 broad.mit.edu 37 4 183676209 183676209 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:183676209C>T uc003ivd.1 + 20 4764 c.4689C>T c.(4687-4689)acC>acT p.T1563T ODZ3_uc003ive.1_Silent_p.T976T NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 1563 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) ATGGCAACACCCTTAGAATTA 0.398000 21 16 0 0 0.006122 0 0 POM121L12 285877 broad.mit.edu 37 7 53103599 53103599 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:53103599G>A uc003tpz.3 + 0 251 c.235G>A c.(235-237)Gag>Aag p.E79K NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 79 p.E79K(2) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCACCTCATCGAGGTGCGGCC 0.711000 33 26 0 0 0.003954 0 0 NDUFA10 4705 broad.mit.edu 37 2 240929547 240929547 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:240929547G>A uc010fzc.2 - 9 1134 c.1033C>T c.(1033-1035)Ccg>Tcg p.P345S NDUFA10_uc002vyn.3_Missense_Mutation_p.P315S NM_004544 NP_004535 O95299 NDUAA_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), nuclear gene encoding mitochondrial protein, mRNA. 315 mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor p.T345T(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8) 16 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) GTGACTTCCGGGAGAAAGATA 0.428000 52 23 0 0 0.003330 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871822 51871822 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:51871822G>A uc002xwo.3 + 1 2712 c.1825G>A c.(1825-1827)Gaa>Aaa p.E609K TSHZ2_uc021wex.1_Missense_Mutation_p.E606K NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 609 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) AGACAAAGATGAAGCGGTGAA 0.507000 81 28 0 0 0.004656 0 0 SERPINB3 6317 broad.mit.edu 37 18 61324197 61324197 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr18:61324197C>T uc002lji.3 - 6 780 c.636G>A c.(634-636)atG>atA p.M212I SERPINB3_uc002ljg.3_Missense_Mutation_p.M212I|SERPINB3_uc010dqa.3_Intron NM_006919 NP_008850 P29508 SPB3_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA. 212 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 ATTGCCTCATCATCTGTATGG 0.373000 16 10 0 0 0.010729 0 0 CORIN 10699 broad.mit.edu 37 4 47625718 47625718 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:47625718C>T uc003gxm.3 - 18 2503 c.2410G>A c.(2410-2412)Gga>Aga p.G804R CORIN_uc011bzf.2_Missense_Mutation_p.G665R|CORIN_uc011bzg.2_Missense_Mutation_p.G737R NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN Homo sapiens corin, serine peptidase (CORIN), mRNA. 804 Peptidase S1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 GTCCGACCTCCAAGGATCCTT 0.542000 45 29 0 0 0.009535 0 0 ARID2 196528 broad.mit.edu 37 12 46245027 46245027 + Nonsense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:46245027C>T uc001ros.1 + 14 3121 c.3121C>T c.(3121-3123)Caa>Taa p.Q1041* ARID2_uc001ror.3_Nonsense_Mutation_p.Q1041*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q497*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q668*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q375* NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 1041 Gln-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GATGCAAGTTCAACCTCAACA 0.512000 """N, S, F""" hepatocellular carcinoma 48 36 0 0 0.006999 0 0 PRRC2C 23215 broad.mit.edu 37 1 171501485 171501485 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:171501485C>T uc010pmg.2 + 11 1518 c.1252C>T c.(1252-1254)Cca>Tca p.P418S PRRC2C_uc001ghr.1_Missense_Mutation_p.P420S NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA. 418 protein C-terminus binding GTTTCAGCATCCACCTCCAGA 0.448000 31 9 0 0 0.008291 0 0 SPICE1 152185 broad.mit.edu 37 3 113212092 113212092 + Missense_Mutation SNP G C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:113212092G>C uc003eag.4 - 5 744 c.453C>G c.(451-453)atC>atG p.I151M SPICE1_uc003eaf.4_Non-coding_Transcript|SPICE1_uc003eah.1_Missense_Mutation_p.I47M NM_144718 NP_653319 Q8N0Z3 SPICE_HUMAN Homo sapiens spindle and centriole associated protein 1 (SPICE1), mRNA. 151 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 TAGATTGGGTGATAGGGTCTT 0.403000 22 7 0 0 0.004482 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94668540 94668540 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:94668540C>T uc001dqj.4 - 9 1257 c.888G>A c.(886-888)agG>agA p.R296R ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Silent_p.R296R NM_004815 NP_004806 Q52LW3 RHG29_HUMAN Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA. 296 Rho protein signal transduction cytosol Rho GTPase activator activity|metal ion binding NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TTTCATTTTTCCTTCCAAGTA 0.294000 60 25 0 0 0.003954 0 0 SALL1 6299 broad.mit.edu 37 16 51171225 51171225 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:51171225C>T uc021tif.1 - 2 3804 c.3482G>A c.(3481-3483)gGt>gAt p.G1161D SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Missense_Mutation_p.G110D NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 1258 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AGGGATGCCACCGTTCTGAAT 0.572000 35 18 0 0 0.007413 0 0 TTN 7273 broad.mit.edu 37 2 179437206 179437206 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:179437206G>A uc021vsy.1 - 274 66174 c.65949C>T c.(65947-65949)atC>atT p.I21983I MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.I15678I|TTN_uc021vta.1_Silent_p.I15611I|TTN_uc021vtb.1_Silent_p.I15486I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 22910 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) TATAGTTCTTGATTTTTGAAC 0.448000 29 14 0 0 0.001855 0 0 ATRNL1 26033 broad.mit.edu 37 10 117309040 117309040 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:117309040G>A uc001lcg.3 + 25 4175 c.3789G>A c.(3787-3789)cgG>cgA p.R1263R ATRNL1_uc010qsm.2_Silent_p.R392R|ATRNL1_uc010qsn.2_Non-coding_Transcript NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN Homo sapiens attractin-like 1 (ATRNL1), mRNA. 1263 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CTTCTCGACGGAGAGAGGTAT 0.343000 30 18 0 0 0.006122 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2416539 2416539 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:2416539G>A uc010xgx.2 + 10 1647 c.1647G>A c.(1645-1647)acG>acA p.T549T NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA. 549 Peptidase S1 2. proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCATAGCACGAAGGTGGAGC 0.687000 11 9 0 0 0.010729 0 0 MYO18A 399687 broad.mit.edu 37 17 27493258 27493258 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:27493258G>A uc002hdt.1 - 1 859 c.701C>T c.(700-702)tCc>tTc p.S234F MYO18A_uc010csa.1_Missense_Mutation_p.S234F|MYO18A_uc002hdu.1_Missense_Mutation_p.S234F NM_078471 NP_510880 Q92614 MY18A_HUMAN Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA. 234 PDZ. DNA metabolic process|anti-apoptosis ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) GCGCCGCAGGGAGAAGCCAAA 0.697000 38 24 0 0 0.003330 0 0 TTN 7273 broad.mit.edu 37 2 179497937 179497937 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:179497937C>T uc021vsy.1 - 181 35584 c.35359G>A c.(35359-35361)Gga>Aga p.G11787R MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G5482R|TTN_uc021vta.1_Missense_Mutation_p.G5415R|TTN_uc021vtb.1_Missense_Mutation_p.G5290R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 12714 Glu-rich.|Pro-rich. 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) AAAGGCTGTCCTTTCAGCTTC 0.438000 28 16 0 0 0.004007 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589311 140589311 + Missense_Mutation SNP T A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:140589311T>A uc003liz.3 + 0 1021 c.832T>A c.(832-834)Tcc>Acc p.S278T PCDHB12_uc011dak.2_Intron NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN Homo sapiens protocadherin beta 12 (PCDHB12), mRNA. 278 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGTGAACTATCCTATACCTT 0.418000 80 52 0 0 0.003610 0 0 AIFM2 84883 broad.mit.edu 37 10 71874719 71874719 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:71874719G>A uc010qjg.2 - 6 943 c.927C>T c.(925-927)atC>atT p.I309I AIFM2_uc021psi.1_Silent_p.I309I|AIFM2_uc001jqp.2_Silent_p.I309I NM_001198696 NP_001185625 Q9BRQ8 AIFM2_HUMAN Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 2 (AIFM2), transcript variant 1, mRNA. 309 apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis cytosol|integral to membrane|mitochondrial outer membrane DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2) 16 CAGAGTTGACGATGTTGGCCA 0.577000 13 9 0 0 0.008291 0 0 MOB3A 126308 broad.mit.edu 37 19 2076990 2076990 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:2076990G>A uc002luu.3 - 1 603 c.444C>T c.(442-444)ttC>ttT p.F148F MOB3A_uc002luv.3_Silent_p.F148F NM_130807 NP_570719 Q96BX8 MOL2A_HUMAN Homo sapiens MOB kinase activator 3A (MOB3A), mRNA. 148 intracellular metal ion binding CCGTCTGCAGGAAGTTCTTGG 0.612000 19 6 0 0 0.004482 0 0 FGD2 221472 broad.mit.edu 37 6 36995938 36995938 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:36995938G>A uc010jwp.1 + 15 2138 c.1967G>A c.(1966-1968)tGa>tAa p.*656* FGD2_uc003ong.2_Silent_p.*378*|FGD2_uc011dtv.1_Silent_p.*284*|FGD2_uc003onj.1_3'UTR NM_173558 NP_775829 Q7Z6J4 FGD2_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA. 0 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 CTGTCCGACTGAGCCACTGCC 0.692000 13 12 0 0 0.001368 0 0 AHNAK 79026 broad.mit.edu 37 11 62299867 62299867 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:62299867C>T uc001ntl.3 - 4 2322 c.2022G>A c.(2020-2022)gaG>gaA p.E674E AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 674 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CCCCCAGACCCTCCAAGTTGA 0.483000 30 92 0 0 0.003610 0 0 ZKSCAN1 7586 broad.mit.edu 37 7 99621898 99621898 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:99621898C>T uc003usk.1 + 2 767 c.548C>T c.(547-549)tCg>tTg p.S183L ZKSCAN1_uc003usj.3_Missense_Mutation_p.S182L|ZKSCAN1_uc003usl.1_Missense_Mutation_p.S147L|ZKSCAN1_uc003usm.1_Intron NM_003439 NP_003430 P17029 ZKSC1_HUMAN Homo sapiens zinc finger with KRAB and SCAN domains 1 (ZKSCAN1), mRNA. 183 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) TTCAAACATTCGTCTCGGAAA 0.532000 43 36 0 0 0.005524 0 0 SH3TC1 54436 broad.mit.edu 37 4 8237240 8237240 + Silent SNP C T T rs146468350 TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:8237240C>T uc003gkv.4 + 14 3464 c.3363C>T c.(3361-3363)ttC>ttT p.F1121F SH3TC1_uc003gkw.4_Silent_p.F1045F|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_Non-coding_Transcript NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA. 1121 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 ACATCTTCTTCGACGGGGCCT 0.642000 77 43 0 0 0.013114 0 0 BAZ1A 11177 broad.mit.edu 37 14 35222877 35222877 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:35222877G>A uc001wsk.3 - 26 5076 c.4508C>T c.(4507-4509)tCg>tTg p.S1503L BAZ1A_uc001wsl.3_Missense_Mutation_p.S1471L NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA. 1503 Bromo. chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) AAAGCAGTTCGAAAACATTAA 0.333000 29 8 0 0 0.003080 0 0 NIPBL 25836 broad.mit.edu 37 5 36986157 36986157 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:36986157C>T uc003jkl.4 + 9 3374 c.2875C>T c.(2875-2877)Ccg>Tcg p.P959S NIPBL_uc003jkk.4_Missense_Mutation_p.P959S|NIPBL_uc003jkm.1_Missense_Mutation_p.P838S NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA. 959 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TTTTGTCATTCCGAAAATCAA 0.383000 48 30 0 0 0.009535 0 0 C1orf55 163859 broad.mit.edu 37 1 226175944 226175944 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:226175944G>A uc001hpu.4 - 5 840 c.787C>T c.(787-789)Ccc>Tcc p.P263S NM_152608 NP_689821 Q6IQ49 CA055_HUMAN Homo sapiens chromosome 1 open reading frame 55 (C1orf55), mRNA. 263 central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(13)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(184;0.197) GAACCACTGGGAAATTTGGCT 0.478000 203 109 0 0 0.003610 0 0 ACLY 47 broad.mit.edu 37 17 40063700 40063700 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:40063700G>A uc002hyg.3 - 6 905 c.742C>T c.(742-744)Cca>Tca p.P248S ACLY_uc002hyh.3_Missense_Mutation_p.P248S|ACLY_uc002hyi.3_Missense_Mutation_p.P302S|ACLY_uc010wfx.2_Missense_Mutation_p.P302S|ACLY_uc010wfy.2_Intron NM_001096 NP_001087 P53396 ACLY_HUMAN Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA. 248 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) CTTACCTCTGGATATGCCTCC 0.597000 98 27 0 0 0.005443 0 0 abParts 0 broad.mit.edu 37 22 23117163 23117163 + Splice_Site SNP G C C rs138634938 by1000genomes TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:23117163G>C uc021wml.1 + 290 c.13031_splice c.e290+2 abParts_uc021wmm.1_Intron Parts of antibodies, mostly variable regions. GCTCACATAGGAGAGGTGGCA 0.537000 15 22 0 0 0.003954 0 0 ING4 51147 broad.mit.edu 37 12 6761532 6761532 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:6761532C>T uc001qpw.4 - 5 594 c.553G>A c.(553-555)Gat>Aat p.D185N ING4_uc001qpy.4_Missense_Mutation_p.D181N|ING4_uc001qpx.4_Missense_Mutation_p.D182N|ING4_uc009zes.3_Intron|ING4_uc009zet.3_Missense_Mutation_p.D161N|ING4_uc009zeu.3_Intron|ING4_uc009zev.3_Non-coding_Transcript|ING4_uc001qpv.4_Missense_Mutation_p.D184N NM_001127582 NP_001121054 Q9UNL4 ING4_HUMAN Homo sapiens inhibitor of growth family, member 4 (ING4), transcript variant 9, mRNA. 185 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|apoptosis|cell cycle arrest|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis histone acetyltransferase complex protein binding|transcription coactivator activity|zinc ion binding central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 10 TCCAACACATCAGAGGGGTGG 0.512000 80 38 0 0 0.004878 0 0 FAM64A 54478 broad.mit.edu 37 17 6350797 6350797 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:6350797C>T uc002gcw.2 + 2 418 c.309C>T c.(307-309)tcC>tcT p.S103S FAM64A_uc002gcu.2_Silent_p.S103S NM_001195228 NP_001182157 Q9BSJ6 FA64A_HUMAN Homo sapiens family with sequence similarity 64, member A (FAM64A), transcript variant 2, mRNA. 103 nucleolus protein binding breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 COAD - Colon adenocarcinoma(228;0.141) TCCAGGAGTCCTGCCAAAGTG 0.562000 97 48 0 0 0.003610 0 0 CYP4F11 57834 broad.mit.edu 37 19 16038276 16038277 + Missense_Mutation DNP CC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:16038276_16038277CC>TT uc002nbu.2 - 3 396_397 c.360_361GG>AA c.(358-363)aaggat>aaAAat p.D121N CYP4F11_uc010eab.1_Missense_Mutation_p.D121N|CYP4F11_uc002nbt.2_Missense_Mutation_p.D121N NM_001128932 NP_067010 Q9HBI6 CP4FB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA. 121 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 AAAATCATATCCTTGGGTGCGA 0.540000 137 75 0 0 0.004672 0 0 FAT3 120114 broad.mit.edu 37 11 92086011 92086011 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:92086011G>A uc001pdj.4 + 0 750 c.733G>A c.(733-735)Gga>Aga p.G245R NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 245 Cadherin 2. 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) TGGGAACAATGGAGTGAGCAG 0.403000 TCGA Ovarian(4;0.039) 129 460 0 0 0.003610 0 0 MARCH2 51257 broad.mit.edu 37 19 8503369 8503369 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:8503369C>T uc002mjv.3 + 5 1121 c.680C>T c.(679-681)cCc>cTc p.P227L MARCH2_uc002mjw.3_Missense_Mutation_p.P227L|MARCH2_uc002mjx.3_Missense_Mutation_p.P157L NM_016496 NP_057580 Q9P0N8 MARH2_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 2 (MARCH2), transcript variant 1, mRNA. 227 endocytosis cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1) 10 CCCGAGGGCCCCCAGCATTCT 0.612000 28 18 0 0 0.004990 0 0 TEX10 54881 broad.mit.edu 37 9 103092373 103092373 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:103092373G>A uc004bas.3 - 5 1544 c.1329C>T c.(1327-1329)tcC>tcT p.S443S TEX10_uc011lvf.2_Silent_p.S282S|TEX10_uc011lvg.2_Silent_p.S446S|TEX10_uc011lvh.1_Silent_p.S378S NM_017746 NP_060216 Q9NXF1 TEX10_HUMAN Homo sapiens testis expressed 10 (TEX10), transcript variant 1, mRNA. 443 MLL1 complex|integral to membrane|nuclear membrane|nucleolus binding NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 38 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) CATTTGCCAGGGAGACCATGA 0.388000 25 32 0 0 0.008361 0 0 KRTAP9-4 85280 broad.mit.edu 37 17 39406029 39406029 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:39406029C>T uc002hwi.3 + 0 91 c.57C>T c.(55-57)tgC>tgT p.C19C NM_033191 NP_149461 Q9BYQ2 KRA94_HUMAN Homo sapiens keratin associated protein 9-4 (KRTAP9-4), mRNA. 19 15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF]. keratin filament breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCACCTGCTGCAGGACCACCT 0.617000 129 18 0 0 0.005443 0 0 TNIK 23043 broad.mit.edu 37 3 170858230 170858230 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:170858230C>T uc003fhh.2 - 12 1635 c.1290G>A c.(1288-1290)caG>caA p.Q430Q TNIK_uc003fhi.2_Silent_p.Q430Q|TNIK_uc003fhj.2_Silent_p.Q430Q|TNIK_uc003fhk.2_Silent_p.Q430Q|TNIK_uc003fhl.2_Silent_p.Q430Q|TNIK_uc003fhm.2_Silent_p.Q430Q|TNIK_uc003fhn.2_Silent_p.Q430Q|TNIK_uc003fho.2_Silent_p.Q430Q NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA. 430 Mediates interaction with NEDD4. Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) CCCGGCGCATCTGCTCCTCAT 0.647000 126 64 0 0 0.003610 0 0 ABCA4 24 broad.mit.edu 37 1 94466457 94466457 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:94466457G>A uc001dqh.3 - 46 6518 c.6414C>T c.(6412-6414)acC>acT p.T2138T NM_000350 NP_000341 P78363 ABCA4_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA. 2138 ABC transporter 2. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TGGCCAGCCGGGTACACAGTG 0.577000 45 24 0 0 0.003954 0 0 OR2W3 343171 broad.mit.edu 37 1 248059071 248059071 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:248059071C>T uc010pzb.2 + 0 183 c.183C>T c.(181-183)ttC>ttT p.F61F OR2W3_uc001idp.1_Silent_p.F61F NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA. 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 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) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCATGTACTTCTTCCTCGCCC 0.567000 235 70 0 0 0.003610 0 0 C2orf77 129881 broad.mit.edu 37 2 170502525 170502525 + Silent SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:170502525T>C uc002ufe.2 - 8 1579 c.1485A>G c.(1483-1485)aaA>aaG p.K495K NM_001085447 NP_001078916 Q0VFZ6 CB077_HUMAN Homo sapiens chromosome 2 open reading frame 77 (C2orf77), mRNA. 495 endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|urinary_tract(2) 23 CCTGTACAGCTTTTACAAGAG 0.443000 179 4 0 0 0.001168 0 0 CENPE 1062 broad.mit.edu 37 4 104063017 104063017 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:104063017C>T uc003hxb.1 - 34 5443 c.5353G>A c.(5353-5355)Gag>Aag p.E1785K CENPE_uc003hxc.1_Missense_Mutation_p.E1760K|CENPE_uc003hxd.1_5'Flank NM_001813 NP_001804 Q02224 CENPE_HUMAN Homo sapiens centromere protein E, 312kDa (CENPE), mRNA. 1785 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TCCTGCTGCTCTTTCAGATGC 0.294000 31 22 0 0 0.003330 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68188300 68188300 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:68188300G>A uc003xxo.2 - 8 1638 c.1248C>T c.(1246-1248)tcC>tcT p.S416S NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA. 416 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GTAAAATGTGGGAAAACTTAG 0.368000 7 15 0 0 0.004007 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62648351 62648351 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:62648351G>A uc001jli.3 - 6 1513 c.1075C>T c.(1075-1077)Ctg>Ttg p.L359L RHOBTB1_uc009xpe.2_Silent_p.L297L|RHOBTB1_uc001jlh.3_Silent_p.L359L|RHOBTB1_uc001jlj.3_Silent_p.L359L|RHOBTB1_uc001jlk.3_Silent_p.L359L NM_001242359 NP_001229288 O94844 RHBT1_HUMAN Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA. 359 BTB 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) TCGGCTTCCAGCCCCAGAGCC 0.562000 91 48 0 0 0.003610 0 0 PGBD4 161779 broad.mit.edu 37 15 34396489 34396489 + Silent SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:34396489A>G uc001zho.3 + 0 2216 c.1757A>G c.(1756-1758)tAa>tGa p.*586* C15orf24_uc001zhm.3_5'Flank NM_152595 NP_689808 Q96DM1 PGBD4_HUMAN Homo sapiens piggyBac transposable element derived 4 (PGBD4), mRNA. 0 breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1) 16 all_lung(180;1.76e-08) all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242) AAAAATTATTAAATACCGATc 0.403000 19 10 0 0 0.001368 0 0 MAP3K15 389840 broad.mit.edu 37 X 19416366 19416366 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:19416366C>T uc022btq.1 - 14 2044 c.2044G>A c.(2044-2046)Gaa>Aaa p.E682K MAP3K15_uc004czj.2_Missense_Mutation_p.E117K|MAP3K15_uc004czk.2_Missense_Mutation_p.E157K NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA. 682 Protein kinase. ATP binding|MAP kinase kinase kinase activity|metal ion binding p.R681R(1) NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) TCCGGGATTTCTTTGATGGCT 0.547000 40 191 0 0 0.003610 0 0 ACSBG2 81616 broad.mit.edu 37 19 6165909 6165909 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:6165909C>T uc002mef.1 + 6 848 c.621C>T c.(619-621)atC>atT p.I207I ACSBG2_uc002mee.1_Silent_p.I20I|ACSBG2_uc002meg.1_Silent_p.I207I|ACSBG2_uc002meh.1_Silent_p.I207I|ACSBG2_uc002mei.1_Silent_p.I157I|ACSBG2_uc010xiz.1_Silent_p.I207I NM_030924 NP_112186 Q5FVE4 ACBG2_HUMAN Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA. 207 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GCAGAAGTATCCCTGACACCC 0.547000 OREG0025194 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 27 0 0 0.008361 0 0 APBA2 321 broad.mit.edu 37 15 29346605 29346605 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:29346605C>T uc001zck.3 + 2 722 c.518C>T c.(517-519)tCc>tTc p.S173F APBA2_uc010azj.2_Missense_Mutation_p.S173F|APBA2_uc010uat.2_Missense_Mutation_p.S173F|APBA2_uc001zcl.3_Missense_Mutation_p.S173F|APBA2_uc010uas.1_Missense_Mutation_p.S173F NM_005503 NP_005494 Q99767 APBA2_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA. 173 DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767). nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GATGAGCCCTCCGTCCTTGAG 0.652000 24 9 0 0 0.006214 0 0 SPINT1 6692 broad.mit.edu 37 15 41145988 41145988 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:41145988C>T uc001zna.3 + 4 1026 c.822C>T c.(820-822)atC>atT p.I274I SPINT1_uc001znb.3_Silent_p.I274I|SPINT1_uc001znc.3_Silent_p.I274I|SPINT1_uc010ucs.2_Silent_p.I274I NM_181642 NP_857593 O43278 SPIT1_HUMAN Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA. 274 BPTI/Kunitz inhibitor 1. extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) CGGAGCAGATCTGCAAGAGTT 0.562000 81 53 0 0 0.003610 0 0 CST4 1472 broad.mit.edu 37 20 23669472 23669472 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:23669472C>T uc002wto.1 - 0 191 c.135G>A c.(133-135)caG>caA p.Q45Q NM_001899 NP_001890 P01036 CYTS_HUMAN Homo sapiens cystatin S (CST4), mRNA. 45 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 16 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) GAAGGGCACGCTGTACCCACT 0.587000 50 23 0 0 0.002780 0 0 MUC16 94025 broad.mit.edu 37 19 9060792 9060792 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:9060792G>A uc002mkp.3 - 2 26858 c.26654C>T c.(26653-26655)tCt>tTt p.S8885F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 8887 Ser-rich.|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 GGTGAAAAGAGAAGTCACCCG 0.493000 49 40 0 0 0.008740 0 0 RMND5B 64777 broad.mit.edu 37 5 177569657 177569657 + Silent SNP G A A rs144820574 byFrequency TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:177569657G>A uc011dgf.2 + 1 225 c.213G>A c.(211-213)acG>acA p.T71T RMND5B_uc003mim.3_Silent_p.T71T|RMND5B_uc003min.3_Silent_p.T71T|RMND5B_uc003mio.3_Silent_p.T58T|RMND5B_uc003miq.3_Silent_p.T11T NM_022762 NP_073599 Q96G75 RMD5B_HUMAN Homo sapiens required for meiotic nuclear division 5 homolog B (S. cerevisiae) (RMND5B), mRNA. 71 endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 17 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCAAAGATACGGTGCAGAAAC 0.572000 73 39 0 0 0.006230 0 0 ZNF341 84905 broad.mit.edu 37 20 32345035 32345035 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:32345035G>A uc002wzy.3 + 5 843 c.823G>A c.(823-825)Gga>Aga p.G275R ZNF341_uc002wzx.3_Missense_Mutation_p.G275R|ZNF341_uc010geq.3_Missense_Mutation_p.G185R|ZNF341_uc010ger.3_Non-coding_Transcript NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN Homo sapiens zinc finger protein 341 (ZNF341), mRNA. 275 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 CAAACCCAAAGGACCAAACCC 0.607000 114 66 0 0 0.003610 0 0 MAST4 375449 broad.mit.edu 37 5 66460381 66460382 + Missense_Mutation DNP GG AA AA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:66460381_66460382GG>AA uc021xzk.1 + 28 5682_5683 c.5374_5375GG>AA c.(5374-5376)ggt>AAt p.G1792N MAST4_uc003jut.2_Missense_Mutation_p.G1603N|MAST4_uc003juw.3_Missense_Mutation_p.G1531N|MAST4_uc003jux.3_5'Flank NM_001164664 NP_001158136 O15021 MAST4_HUMAN Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA. 1795 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) TAAGCTGGAAGGTAGGTCTGTC 0.584000 59 39 0 0 0.004672 0 0 STK40 83931 broad.mit.edu 37 1 36826901 36826901 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:36826901C>T uc001cak.1 - 2 440 c.33G>A c.(31-33)ggG>ggA p.G11G STK40_uc001cal.1_Silent_p.G11G|STK40_uc001cam.1_Silent_p.G11G|STK40_uc001can.1_Silent_p.G11G NM_032017 NP_114406 Q8N2I9 STK40_HUMAN Homo sapiens serine/threonine kinase 40 (STK40), mRNA. 11 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity p.A10V(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1) 13 Myeloproliferative disorder(586;0.0393) CCGACGTTTCCCCAGCTCCTC 0.502000 77 42 0 0 0.011902 0 0 SNRPE 6635 broad.mit.edu 37 1 203832801 203832801 + Missense_Mutation SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:203832801T>C uc001hai.3 + 2 140 c.92T>C c.(91-93)aTt>aCt p.I31T SNRPE_uc010pqn.2_Non-coding_Transcript NM_003094 NP_003085 P62304 RUXE_HUMAN Homo sapiens small nuclear ribonucleoprotein polypeptide E (SNRPE), mRNA. 31 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm RNA binding|protein binding breast(1)|large_intestine(2)|lung(1)|skin(1) 5 all_cancers(21;0.103) BRCA - Breast invasive adenocarcinoma(75;0.109) AGATCGCGGATTCAGGTGTGG 0.458000 82 122 0 0 0.003610 0 0 SLC14A2 8170 broad.mit.edu 37 18 43224041 43224041 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr18:43224041C>T uc002lbe.3 + 9 2083 c.1267C>T c.(1267-1269)Cca>Tca p.P423S SLC14A2_uc002lbb.3_Missense_Mutation_p.P423S|SLC14A2_uc010dnj.3_Missense_Mutation_p.P423S NM_007163 NP_009094 Q15849 UT2_HUMAN Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA. 423 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CTTCAGACTCCCACTCAGCAA 0.567000 127 13 0 0 0.002450 0 0 OR6C6 283365 broad.mit.edu 37 12 55688381 55688381 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:55688381C>T uc010sph.2 - 0 636 c.636G>A c.(634-636)gtG>gtA p.V212V NM_001005493 NP_001005493 A6NF89 OR6C6_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA. 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 AAGAGAGAATCACTAATACCA 0.413000 27 15 0 0 0.002450 0 0 OTOS 150677 broad.mit.edu 37 2 241078633 241078633 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:241078633G>A uc002vyv.3 - 3 379 c.224C>T c.(223-225)cCc>cTc p.P75L MYEOV2_uc002vyu.1_5'Flank|MYEOV2_uc010zof.1_5'Flank NM_148961 NP_683764 Q8NHW6 OTOSP_HUMAN Homo sapiens otospiralin (OTOS), mRNA. 75 extracellular region endometrium(2)|large_intestine(1)|lung(3) 6 all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16) Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) GCTCCCCAGGGGGAAGTGGGC 0.642000 37 23 0 0 0.002780 0 0 DHX9 1660 broad.mit.edu 37 1 182845262 182845262 + Silent SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:182845262A>G uc001gpr.3 + 16 2068 c.1893A>G c.(1891-1893)gaA>gaG p.E631E DHX9_uc001gps.3_Silent_p.E417E NM_001357 NP_001348 Q08211 DHX9_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA. 631 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 ACGAAAAGGAAACTCCTTTTG 0.393000 64 81 0 0 0.003610 0 0 GAMT 2593 broad.mit.edu 37 19 1398967 1398967 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:1398967G>A uc002lsj.3 - 4 595 c.518C>T c.(517-519)tCc>tTc p.S173F AK126693_uc002lsi.1_5'Flank|GAMT_uc002lsk.3_Missense_Mutation_p.S173F NM_000156 NP_000147 Q14353 GAMT_HUMAN Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 1, mRNA. 173 creatine biosynthetic process|muscle contraction cytosol guanidinoacetate N-methyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1) 6 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Creatine(DB00148) CTCCCCCCAGGAGGTGAGGTT 0.607000 41 21 0 0 0.003954 0 0 DHX15 1665 broad.mit.edu 37 4 24543617 24543617 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:24543617G>A uc003gqx.3 - 7 1532 c.1364C>T c.(1363-1365)tCc>tTc p.S455F DHX15_uc003gqw.3_5'Flank NM_001358 NP_001349 O43143 DHX15_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 15 (DHX15), mRNA. 455 Helicase C-terminal. mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 30 Breast(46;0.0503) CACCAAAAGGGACTCAACTCT 0.418000 26 17 0 0 0.006122 0 0 ZNF559 84527 broad.mit.edu 37 19 9449175 9449175 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:9449175C>T uc002mle.4 + 2 549 c.142C>T c.(142-144)Ctt>Ttt p.L48F ZNF559_uc002mld.3_Missense_Mutation_p.L48F|ZNF559_uc021uoj.1_Intron|ZNF559_uc010xkn.2_Intron|ZNF559_uc021uok.1_5'UTR|ZNF559_uc021uol.1_5'UTR|ZNF559_uc010dwk.2_Missense_Mutation_p.L12F|ZNF559_uc002mlf.3_5'UTR|ZNF559_uc010dwl.2_Missense_Mutation_p.L48F|ZNF559_uc002mlh.2_Non-coding_Transcript|ZNF559_uc021uom.1_5'UTR|ZNF177_uc002mli.3_5'UTR|ZNF177_uc002mlj.3_Intron NM_001202406 NP_001189335 Q9BR84 ZN559_HUMAN Homo sapiens zinc finger protein 559 (ZNF559), transcript variant 1, mRNA. 0 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 TTAAGATCATCTTTCTCAAGA 0.398000 19 11 0 0 0.010729 0 0 HOXB1 3211 broad.mit.edu 37 17 46608044 46608044 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:46608044G>A uc002ink.1 - 0 229 c.223C>T c.(223-225)Ccc>Tcc p.P75S HOXB1_uc021tzf.1_Missense_Mutation_p.P75S NM_002144 NP_002135 P14653 HXB1_HUMAN Homo sapiens homeobox B1 (HOXB1), mRNA. 75 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CTGGGGAAGGGCACCCCCAGG 0.677000 70 27 0 0 0.004656 0 0 ZMAT4 79698 broad.mit.edu 37 8 40532385 40532385 + Nonsense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:40532385G>A uc003xnr.3 - 4 561 c.415C>T c.(415-417)Caa>Taa p.Q139* ZMAT4_uc003xns.3_Intron NM_024645 NP_078921 Q9H898 ZMAT4_HUMAN Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA. 139 nucleus DNA binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) TCTCTTCTTTGATAGGGAGAT 0.507000 40 132 0 0 0.003610 0 0 CACNA1I 8911 broad.mit.edu 37 22 39966992 39966992 + Splice_Site SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:39966992C>T uc003ayc.3 + 1 236 c.236_splice c.e1+1 p.P79_splice CACNA1I_uc003ayd.3_Splice_Site_p.P79_splice NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA. 79 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GGTGTGCAACCCATATCCTCC 0.632000 42 18 0 0 0.004990 0 0 PCLO 27445 broad.mit.edu 37 7 82585408 82585408 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:82585408C>T uc003uhx.2 - 4 5150 c.4861G>A c.(4861-4863)Gaa>Aaa p.E1621K PCLO_uc003uhv.2_Missense_Mutation_p.E1621K NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 1552 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 CCTGCATCTTCATCAATGCTT 0.413000 320 222 0 0 0.003610 0 0 PCDH10 57575 broad.mit.edu 37 4 134073035 134073035 + Silent SNP G T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:134073035G>T uc003iha.3 + 0 2566 c.1740G>T c.(1738-1740)ggG>ggT p.G580G BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Silent_p.G580G NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA. 580 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CTCTACCAGGGCGCAACGGGA 0.682000 26 17 1.15088e-07 1.24657e-07 0.004007 1 0 DDN 23109 broad.mit.edu 37 12 49391080 49391080 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:49391080G>A uc001rsv.1 - 1 1597 c.1579C>T c.(1579-1581)Cgc>Tgc p.R527C NM_015086 NP_055901 O94850 DEND_HUMAN Homo sapiens dendrin (DDN), mRNA. 527 Interaction with CD2AP and NPHS1 (By similarity). dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 8 Tcgcccccgcggcccccgccg 0.682000 10 4 0 0 0.009096 0 0 TOP2A 7153 broad.mit.edu 37 17 38574030 38574030 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:38574030G>A uc002huq.3 - 0 173 c.14C>T c.(13-15)cCa>cTa p.P5L NM_001067 NP_001058 P11388 TOP2A_HUMAN Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA. 5 DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) TACCTGCAATGGTGACACTTC 0.672000 31 4 0 0 0.006214 0 0 C4orf26 152816 broad.mit.edu 37 4 76489736 76489736 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:76489736G>A uc011cbo.2 + 2 559 c.524G>A c.(523-525)cGa>cAa p.R175Q C4orf26_uc011cbn.2_Non-coding_Transcript|C4orf26_uc003hip.2_3'UTR NM_001206981 NP_001193910 Q17RF5 CD026_HUMAN Homo sapiens chromosome 4 open reading frame 26 (C4orf26), transcript variant 1, mRNA. 0 extracellular region kidney(1)|large_intestine(4)|stomach(1) 6 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TTTATCTTTCGAAACTAAAAC 0.343000 13 4 0 0 0.009096 0 0 LMF2 91289 broad.mit.edu 37 22 50942023 50942023 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:50942023C>T uc003blp.2 - 13 1952 c.1921G>A c.(1921-1923)Ggg>Agg p.G641R LMF2_uc003blo.2_Missense_Mutation_p.G616R NM_033200 NP_149977 Q9BU23 LMF2_HUMAN Homo sapiens lipase maturation factor 2 (LMF2), mRNA. 641 endoplasmic reticulum membrane|integral to membrane p.L641L(1) breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2) 10 all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) ATGAGGAGCCCCCAGAGCAGG 0.692000 2 4 0 0 0.000602 0 0 KRTAP9-2 83899 broad.mit.edu 37 17 39382963 39382963 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:39382963C>T uc002hwf.3 + 0 64 c.57C>T c.(55-57)tgC>tgT p.C19C NM_031961 NP_114167 Q9BYQ4 KRA92_HUMAN Homo sapiens keratin associated protein 9-2 (KRTAP9-2), mRNA. 19 17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP]. keratin filament protein binding large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCACCTGCTGCAGGACCACCT 0.637000 127 33 0 0 0.010771 0 0 AFF1 4299 broad.mit.edu 37 4 88052973 88052973 + Missense_Mutation SNP G T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:88052973G>T uc011ccz.2 + 17 3405 c.3130G>T c.(3130-3132)Gat>Tat p.D1044Y AFF1_uc003hqj.4_Missense_Mutation_p.D1037Y|AFF1_uc003hqk.4_Missense_Mutation_p.D1037Y|AFF1_uc011cda.2_Missense_Mutation_p.D675Y NM_001166693 NP_001160165 P51825 AFF1_HUMAN Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA. 1037 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) ATCCTTCTCAGATGCCACAGC 0.313000 19 11 0.00244969 0.00263383 0.002450 1 0 ARAP2 116984 broad.mit.edu 37 4 36212031 36212031 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:36212031C>T uc003gsq.2 - 5 1806 c.1468G>A c.(1468-1470)Gat>Aat p.D490N ARAP2_uc003gsr.1_Missense_Mutation_p.D490N NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA. 490 PH 1. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 GAGAGTTTATCCAGCCATCCT 0.383000 24 9 0 0 0.004482 0 0 OR52N4 390072 broad.mit.edu 37 11 5776682 5776682 + Nonsense_Mutation SNP A T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:5776682A>T uc001mbu.3 + 0 760 c.712A>T c.(712-714)Aag>Tag p.K238* TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA. 238 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) TGCTCGGCAGAAGGCCTTTAA 0.493000 32 86 0 0 0.003610 0 0 LRRC27 80313 broad.mit.edu 37 10 134147046 134147046 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:134147046C>T uc010quw.1 + 1 213 c.18C>T c.(16-18)tcC>tcT p.S6S STK32C_uc010quu.1_5'Flank|STK32C_uc009ybc.1_5'Flank|STK32C_uc009ybd.1_5'Flank|LRRC27_uc001llf.2_Silent_p.S6S|LRRC27_uc010quv.1_Silent_p.S6S|LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Silent_p.S6S|LRRC27_uc001llj.2_5'Flank NM_030626 NP_085129 Q9C0I9 LRC27_HUMAN Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA. 6 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 18 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) GAAGCAGCTCCTACGAAGTTC 0.567000 24 15 0 0 0.004990 0 0 RBM5 10181 broad.mit.edu 37 3 50155851 50155851 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:50155851C>T uc003cyg.3 + 24 2585 c.2410C>T c.(2410-2412)Cgg>Tgg p.R804W RBM5_uc011bdk.2_Missense_Mutation_p.R632W|RBM5_uc003cyh.3_Missense_Mutation_p.R261W|AK125500_uc003cyi.1_Intron NM_005778 NP_005769 P52756 RBM5_HUMAN Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA. 804 Required for interaction with U2AF2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGATGCTGTCCGGAAAGCCAT 0.542000 25 8 0 0 0.004482 0 0 OR4K1 79544 broad.mit.edu 37 14 20404152 20404152 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:20404152G>A uc001vwj.2 + 0 386 c.327G>A c.(325-327)ggG>ggA p.G109G NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA. 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) GTTTTGTTGGGAGTGAGATGA 0.433000 61 27 0 0 0.008361 0 0 FBXO10 26267 broad.mit.edu 37 9 37537332 37537332 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:37537332G>A uc004aac.3 - 2 1322 c.1242C>T c.(1240-1242)tcC>tcT p.S414S FBXO10_uc004aab.3_Silent_p.S398S|FBXO10_uc004aad.3_Intron NM_012166 NP_036298 Q9UK96 FBX10_HUMAN Homo sapiens F-box protein 10 (FBXO10), mRNA. 398 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) GCAGCTGAATGGATGCTCCTG 0.587000 2 5 0 0 0.001168 0 0 KCNT2 343450 broad.mit.edu 37 1 196438186 196438186 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:196438186C>T uc001gtd.1 - 5 457 c.397G>A c.(397-399)Gaa>Aaa p.E133K KCNT2_uc009wyt.1_5'Flank|KCNT2_uc001gte.1_Missense_Mutation_p.E133K|KCNT2_uc001gtf.1_Missense_Mutation_p.E133K|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.E133K|KCNT2_uc009wyv.1_Intron NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA. 133 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 AAAATCTGTTCCCAGATGTTT 0.338000 15 7 0 0 0.004482 0 0 LOC729020 729020 broad.mit.edu 37 10 105005787 105005787 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:105005787C>T uc009xxi.2 + 0 144 c.34C>T c.(34-36)Ctc>Ttc p.L12F BC040734_uc001kwr.3_Intron NM_001143909 NP_001137381 Q2QD12 Q2QD12_HUMAN Homo sapiens rcRPE (LOC729020), mRNA. 12 carbohydrate metabolic process ribulose-phosphate 3-epimerase activity CCCGTCCATCCTCAACAGCGA 0.542000 25 15 0 0 0.002450 0 0 LAMA5 3911 broad.mit.edu 37 20 60902993 60902993 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:60902993G>A uc002ycq.3 - 35 4793 c.4726C>T c.(4726-4728)Ccc>Tcc p.P1576S LAMA5_uc021wfw.1_Missense_Mutation_p.P1576S NM_005560 NP_005551 O15230 LAMA5_HUMAN Homo sapiens laminin, alpha 5 (LAMA5), mRNA. 1576 Laminin EGF-like 14. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding p.R1575H(1) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGTCACAGGGGCGGCAGCGG 0.687000 33 21 0 0 0.003330 0 0 CSMD2 114784 broad.mit.edu 37 1 34066541 34066541 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:34066541C>T uc001bxm.1 - 43 6957 c.6780G>A c.(6778-6780)caG>caA p.Q2260Q CSMD2_uc001bxn.1_Silent_p.Q2262Q|CSMD2_uc001bxo.1_Silent_p.Q1133Q NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2262 CUB 13. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGGATGAACTCTGCACTGTTT 0.577000 72 42 0 0 0.003610 0 0 AATK 9625 broad.mit.edu 37 17 79108181 79108182 + Missense_Mutation DNP CC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:79108181_79108182CC>TT uc010dia.3 - 1 255_256 c.175_176GG>AA c.(175-177)ggt>AAt p.G59N AATK_uc021ueu.1_5'Flank|MIR1250_uc021uex.1_5'Flank NM_001080395 NP_001073864 Q6ZMQ8 LMTK1_HUMAN Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA. 59 MLACLCCKKGGIGFK -> HQVKVQGCWGRWRWQ (in Ref. 2). integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1) 21 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GAACCCGATACCGCCCTTCTTA 0.649000 30 9 0 0 0.004672 0 0 CSRNP2 81566 broad.mit.edu 37 12 51458139 51458139 + Missense_Mutation SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:51458139T>C uc021qxx.1 - 4 1534 c.1022A>G c.(1021-1023)gAt>gGt p.D341G CSRNP2_uc001rxu.2_Missense_Mutation_p.D341G NM_030809 NP_110436 Q9H175 CSRN2_HUMAN Homo sapiens cysteine-serine-rich nuclear protein 2 (CSRNP2), transcript variant 1, mRNA. 341 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 14 GCCGCTGGAATCTTCTTCTGC 0.587000 52 27 0 0 0.007291 0 0 PKD1L2 114780 broad.mit.edu 37 16 81155284 81155284 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:81155284G>A uc002fgh.1 - 39 6513 c.6513C>T c.(6511-6513)ctC>ctT p.L2171L PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_Non-coding_Transcript NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 2173 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GGTACAGGCGGAGGCTCTGCA 0.602000 16 6 0 0 0.001168 0 0 P4HA3 283208 broad.mit.edu 37 11 74013507 74013507 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:74013507G>A uc010rrj.2 - 2 517 c.474C>T c.(472-474)gtC>gtT p.V158V P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Silent_p.V158V Q7Z4N8 P4HA3_HUMAN Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA. 158 endoplasmic reticulum lumen L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity p.G157A(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1) 15 Breast(11;2.31e-05) CTCTCTGAAAGACACCTCGGG 0.552000 35 111 0 0 0.003610 0 0 HELQ 113510 broad.mit.edu 37 4 84350736 84350736 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:84350736G>A uc003hom.3 - 11 2638 c.2459C>T c.(2458-2460)tCt>tTt p.S820F HELQ_uc010ikb.3_Missense_Mutation_p.S753F|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN Homo sapiens helicase, POLQ-like (HELQ), mRNA. 820 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 CTCTTCTTCAGACTTATAAAT 0.318000 Other identified genes with known or suspected DNA repair function 46 25 0 0 0.005443 0 0 CHST10 9486 broad.mit.edu 37 2 101014572 101014572 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:101014572G>A uc002tam.3 - 4 623 c.225C>T c.(223-225)ctC>ctT p.L75L NM_004854 NP_004845 O43529 CHSTA_HUMAN Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA. 75 carbohydrate biosynthetic process|cell adhesion Golgi membrane|integral to membrane|membrane fraction breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1) 16 GGGGCTGAACGAGCTGGCTGT 0.577000 45 27 0 0 0.006320 0 0 MAMDC4 158056 broad.mit.edu 37 9 139751375 139751375 + Silent SNP G T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:139751375G>T uc004cjs.3 + 15 1904 c.1854G>T c.(1852-1854)ctG>ctT p.L618L MAMDC4_uc011mej.2_5'UTR NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN Homo sapiens MAM domain containing 4 (MAMDC4), mRNA. 697 MAM 3. protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) TTGTGCTCCTGGACCCCACAG 0.667000 12 18 7.45023e-12 8.09976e-12 0.010504 1 0 UBE3D 90025 broad.mit.edu 37 6 83728796 83728796 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:83728796G>A uc003pjp.2 - 7 1014 c.906C>T c.(904-906)atC>atT p.I302I UBE3D_uc011dyx.1_Non-coding_Transcript|UBE3D_uc003pjq.3_Silent_p.I92I NM_198920 NP_944602 Q7Z6J8 UB2CB_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2C binding protein (UBE2CBP), mRNA. 302 cytoplasm ligase activity GGAATTTTTTGATATATTTGG 0.378000 8 10 0 0 0.010729 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906415 164906415 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:164906415G>A uc003fej.4 - 1 2648 c.2204C>T c.(2203-2205)cCc>cTc p.P735L SLITRK3_uc003fek.3_Missense_Mutation_p.P735L|SLITRK3_uc021xgy.1_Missense_Mutation_p.P735L NM_014926 NP_055741 O94933 SLIK3_HUMAN Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA. 735 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 ATGACCCACGGGAGGGGCCTT 0.567000 HNSCC(40;0.11) 27 14 0 0 0.003163 0 0 METTL6 131965 broad.mit.edu 37 3 15452786 15452786 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:15452786G>A uc003bzs.1 - 5 1090 c.832C>T c.(832-834)Ctg>Ttg p.L278L METTL6_uc011avp.1_Silent_p.L233L NM_152396 NP_689609 Q8TCB7 METL6_HUMAN Homo sapiens methyltransferase like 6 (METTL6), mRNA. 278 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1) 15 TCCAGGCCCAGGACCACAGGA 0.463000 30 8 0 0 0.003080 0 0 COL8A1 1295 broad.mit.edu 37 3 99513870 99513870 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:99513870G>A uc003dti.1 + 2 1256 c.1128G>A c.(1126-1128)ggG>ggA p.G376G MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Silent_p.G375G|COL8A1_uc003dth.1_Silent_p.G375G NM_020351 NP_065084 P27658 CO8A1_HUMAN Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA. 375 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 GACCAAGAGGGGAGAAAGGAC 0.622000 24 10 0 0 0.006214 0 0 DBC1 1620 broad.mit.edu 37 9 121930073 121930073 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:121930073G>A uc004bkc.2 - 7 2031 c.1575C>T c.(1573-1575)tcC>tcT p.S525S NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 525 cell cycle arrest|cell death cytoplasm protein binding p.M524L(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 TGAGAGTGAGGGACATGCGCT 0.572000 6 9 0 0 0.006214 0 0 DNAH7 56171 broad.mit.edu 37 2 196722234 196722234 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:196722234G>A uc002utj.4 - 43 8382 c.8281C>T c.(8281-8283)Cct>Tct p.P2761S NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 2761 Stalk (By similarity). 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 TAAGCTGGAGGAATATTGTCC 0.383000 35 16 0 0 0.003163 0 0 FCRL5 83416 broad.mit.edu 37 1 157497563 157497563 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:157497563G>A uc009wsm.3 - 8 1962 c.1804C>T c.(1804-1806)Cat>Tat p.H602Y FCRL5_uc001fqu.3_Missense_Mutation_p.H602Y|FCRL5_uc010phv.1_Missense_Mutation_p.H602Y|FCRL5_uc010phw.1_Missense_Mutation_p.H517Y NM_001195388 NP_001182317 Q96RD9 FCRL5_HUMAN Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA. 602 Ig-like C2-type 6. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) ACATCCTCATGATAAAACCAG 0.577000 118 34 0 0 0.002836 0 0 MYH2 4620 broad.mit.edu 37 17 10429088 10429088 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:10429088G>A uc010coi.3 - 30 4421 c.4293C>T c.(4291-4293)gtC>gtT p.V1431V AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.V1431V|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1431 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.E1430Q(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TGAGGTCCTCGACCTCATTCT 0.537000 47 52 0 0 0.003610 0 0 AKAP10 11216 broad.mit.edu 37 17 19835231 19835231 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:19835231G>A uc002gwo.3 - 9 1665 c.1528C>T c.(1528-1530)Cat>Tat p.H510Y AKAP10_uc002gwp.1_Missense_Mutation_p.H510Y|AKAP10_uc010cqw.1_Intron NM_007202 NP_009133 O43572 AKA10_HUMAN Homo sapiens A kinase (PRKA) anchor protein 10 (AKAP10), nuclear gene encoding mitochondrial protein, mRNA. 510 blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 21 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) CGAACCGAATGGATGAGATCA 0.433000 33 15 0 0 0.003163 0 0 RBM12 10137 broad.mit.edu 37 20 34241544 34241544 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:34241544G>A uc021wcr.1 - 0 1701 c.1701C>T c.(1699-1701)atC>atT p.I567I CPNE1_uc010zvj.2_5'UTR|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Silent_p.I567I|RBM12_uc002xds.3_Silent_p.I567I|RBM12_uc002xdr.3_Silent_p.I567I|RBM12_uc021wcq.1_Silent_p.I567I NM_152838 NP_690051 Q9NTZ6 RBM12_HUMAN Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA. 567 nucleus RNA binding|nucleotide binding|protein binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) CATCCACTGGGATTCCTTCTA 0.413000 103 53 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179424620 179424620 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:179424620C>T uc021vsy.1 - 274 78760 c.78535G>A c.(78535-78537)Gaa>Aaa p.E26179K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E19874K|TTN_uc021vta.1_Missense_Mutation_p.E19807K|TTN_uc021vtb.1_Missense_Mutation_p.E19682K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 27106 Fibronectin type-III 90. 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) TCTTCTCTTTCCTTTGCTATC 0.433000 59 26 0 0 0.004656 0 0 DNAH5 1767 broad.mit.edu 37 5 13753464 13753464 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:13753464C>T uc003jfd.2 - 62 10792 c.10750G>A c.(10750-10752)Gat>Aat p.D3584N DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3584 AAA 5 (By similarity). 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) GACAAGTCATCATTTGGCAGA 0.388000 Kartagener syndrome 52 19 0 0 0.010504 0 0 MYH14 79784 broad.mit.edu 37 19 50795539 50795539 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:50795539C>T uc010enu.1 + 36 5196 c.5149C>T c.(5149-5151)Cgg>Tgg p.R1717W MYH14_uc002prq.1_Missense_Mutation_p.R1684W|MYH14_uc002prr.1_Missense_Mutation_p.R1676W|MYH14_uc010ycb.2_Missense_Mutation_p.R27W|MYH14_uc002prs.1_Missense_Mutation_p.R27W NM_001145809 NP_001139281 Q7Z406 MYH14_HUMAN Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA. 1676 axon guidance|regulation of cell shape myosin complex ATP binding|actin binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GGAGCTATGGCGGGAGGTGGA 0.622000 12 7 0 0 0.001984 0 0 GPR98 84059 broad.mit.edu 37 5 89947487 89947487 + Missense_Mutation SNP G C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:89947487G>C uc003kju.3 + 17 3452 c.3356G>C c.(3355-3357)gGc>gCc p.G1119A GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 1119 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) GACCCAAATGGCATTTTTTCT 0.338000 22 10 0 0 0.006214 0 0 NOL9 79707 broad.mit.edu 37 1 6589208 6589208 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:6589208G>A uc001ans.3 - 9 1767 c.1671C>T c.(1669-1671)ctC>ctT p.L557L NOL9_uc010nzs.2_Non-coding_Transcript NM_024654 NP_078930 Q5SY16 NOL9_HUMAN Homo sapiens nucleolar protein 9 (NOL9), mRNA. 557 maturation of 5.8S rRNA nucleolus ATP binding|RNA binding|polynucleotide 5'-hydroxyl-kinase activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1) 19 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) GGGTAATCCGGAGTGCGACTG 0.443000 17 15 0 0 0.004990 0 0 C2orf54 79919 broad.mit.edu 37 2 241835039 241835039 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:241835039C>T uc002wae.4 - 0 535 c.376G>A c.(376-378)Gag>Aag p.E126K NM_001085437 NP_001078906 Q08AI8 CB054_HUMAN Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA. 126 haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1) 6 all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) AAGGTATCCTCGGTGGTCCAC 0.622000 16 10 0 0 0.008291 0 0 PDIA4 9601 broad.mit.edu 37 7 148716090 148716091 + Nonsense_Mutation DNP GG AA AA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:148716090_148716091GG>AA uc003wff.2 - 2 750_751 c.468_469CC>TT c.(466-471)acccag>acTTag p.Q157* NM_004911 NP_004902 P13667 PDIA4_HUMAN Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA. 157 Thioredoxin 1. cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) TCACCTTCCTGGGTTCTGGAGC 0.550000 36 20 0 0 0.004672 0 0 SCN1A 6323 broad.mit.edu 37 2 166900468 166900468 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:166900468C>T uc002udo.4 - 12 1981 c.1754G>A c.(1753-1755)gGa>gAa p.G585E SCN1A_uc010fpk.3_Missense_Mutation_p.G585E|SCN1A_uc021vsb.1_Missense_Mutation_p.G585E NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 585 voltage-gated sodium channel complex voltage-gated sodium channel activity 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) GTTCTCAGATCCCACATCCTT 0.502000 43 22 0 0 0.012319 0 0 ZNF550 162972 broad.mit.edu 37 19 58058694 58058694 + Missense_Mutation SNP A T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:58058694A>T uc002qpe.1 - 1 795 c.795T>A c.(793-795)aaT>aaA p.N265K ZNF550_uc002qpc.3_Non-coding_Transcript|ZNF550_uc010eue.2_Non-coding_Transcript|ZNF550_uc002qpd.3_Non-coding_Transcript NM_001039654 NP_001034743 Q7Z398 ZN550_HUMAN Homo sapiens zinc finger protein 550 (ZNF550), mRNA. 306 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 7 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGTGGGTCCTATTATGGCGAA 0.463000 51 30 0 0 0.012213 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21032415 21032415 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:21032415G>A uc010sil.2 + 8 1246 c.1181G>A c.(1180-1182)gGa>gAa p.G394E SLCO1B3_uc001rek.3_Missense_Mutation_p.G394E|SLCO1B3_uc001rel.3_Missense_Mutation_p.G394E|SLCO1B3_uc010sim.2_Intron Q9NPD5 SO1B3_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA. 394 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) TTTTTAGGAGGATTTATCATT 0.284000 35 19 0 0 0.010504 0 0 LARP1B 55132 broad.mit.edu 37 4 129131166 129131166 + Silent SNP C A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:129131166C>A uc003iga.3 + 19 2834 c.2703C>A c.(2701-2703)ccC>ccA p.P901P LARP1B_uc003igc.3_Intron|LARP1B_uc010ioa.2_Intron|LARP1B_uc003ige.3_Intron|LARP1B_uc003igd.3_Intron|LARP1B_uc003igf.3_Silent_p.P101P NM_018078 NP_060548 Q659C4 LAR1B_HUMAN Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA. 901 RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 TAAACTCTCCCAGAAGGAATA 0.433000 196 5 0.00307968 0.00330873 0.003080 1 0 DCDC5 100506627 broad.mit.edu 37 11 31115680 31115680 + Missense_Mutation SNP A T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:31115680A>T uc009yjk.1 - 3 448 c.379T>A c.(379-381)Ttc>Atc p.F127I DCDC5_uc009yjl.1_Missense_Mutation_p.F55I|DCDC5_uc001msu.2_Missense_Mutation_p.F298I NM_020869 NP_065920 Q6ZRR9 DCDC5_HUMAN Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA. 0 intracellular signal transduction NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1) 31 CTGCCTGAGAAACTCCACTTT 0.448000 17 46 0 0 0.003610 0 0 NTRK1 4914 broad.mit.edu 37 1 156844179 156844179 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:156844179C>T uc001fqh.1 + 8 1238 c.1182C>T c.(1180-1182)tcC>tcT p.S394S NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|NTRK1_uc001fqi.1_Intron|NTRK1_uc009wsk.1_Intron NM_002529 NP_002520 P04629 NTRK1_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA. 394 Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CTGCAGTCTCCTTCTCGCCGG 0.602000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 259 77 0 0 0.003610 0 0 CCL7 6354 broad.mit.edu 37 17 32598743 32598743 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:32598743C>T uc002hhz.3 + 2 292 c.222C>T c.(220-222)atC>atT p.I74I CCL7_uc010ctf.3_Non-coding_Transcript NM_006273 NP_006264 P80098 CCL7_HUMAN Homo sapiens chemokine (C-C motif) ligand 7 (CCL7), mRNA. 74 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 Breast(3;0.00224) Breast(31;0.151)|Ovarian(249;0.17) BRCA - Breast invasive adenocarcinoma(366;0.155) ACAAGGAGATCTGTGCTGACC 0.483000 66 23 0 0 0.003954 0 0 NPHS1 4868 broad.mit.edu 37 19 36340480 36340480 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:36340480G>A uc002oby.3 - 5 840 c.684C>T c.(682-684)atC>atT p.I228I NM_004646 NP_004637 O60500 NPHN_HUMAN Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA. 228 Ig-like C2-type 2. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ATGAGGCCTTGATGGGGGCCT 0.587000 55 37 0 0 0.010771 0 0 DBNL 28988 broad.mit.edu 37 7 44100395 44100395 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:44100395C>T uc003tjp.4 + 12 1271 c.1173C>T c.(1171-1173)tcC>tcT p.S391S DBNL_uc003tjo.4_Silent_p.S392S|DBNL_uc003tjq.4_Silent_p.S400S|DBNL_uc011kbm.2_Silent_p.S367S|DBNL_uc011kbo.2_Silent_p.S292S|DBNL_uc011kbp.2_Silent_p.S343S|DBNL_uc011kbq.2_Silent_p.S316S|DBNL_uc011kbn.2_Silent_p.S288S|DBNL_uc011kbr.2_Silent_p.S340S|DBNL_uc011kbs.2_Silent_p.S296S NM_001014436 NP_001014436 Q9UJU6 DBNL_HUMAN Homo sapiens drebrin-like (DBNL), transcript variant 2, mRNA. 391 SH3. Rac protein signal transduction|activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis cell cortex|cytoskeleton|cytosol|lamellipodium actin binding|enzyme activator activity|identical protein binding breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1) 12 CAGAGATCTCCTTTGACCCCG 0.617000 70 39 0 0 0.007835 0 0 SH3D19 152503 broad.mit.edu 37 4 152053487 152053487 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:152053487G>A uc010ipl.1 - 17 3057 c.1967C>T c.(1966-1968)tCt>tTt p.S656F SH3D19_uc003imb.2_Missense_Mutation_p.S411F|SH3D19_uc003imc.2_Missense_Mutation_p.S597F|SH3D19_uc003ime.2_Missense_Mutation_p.S633F|SH3D19_uc010ipm.2_Missense_Mutation_p.S633F NM_001009555 NP_001009555 Q5HYK7 SH319_HUMAN Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA. 656 cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport Golgi apparatus|cytosol|nucleus|plasma membrane proline-rich region binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1) 20 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) GCCTACCTGAGAGTTTGAGCC 0.358000 26 9 0 0 0.001855 0 0 CPAMD8 27151 broad.mit.edu 37 19 17017762 17017762 + Splice_Site SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:17017762C>T uc002nfb.3 - 30 4200 c.4168_splice c.e30+1 p.D1390_splice NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 1343 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GGACACCTACCTCGCATGATG 0.602000 11 4 0 0 0.009096 0 0 TBR1 10716 broad.mit.edu 37 2 162273514 162273514 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:162273514G>A uc002ubw.1 + 0 895 c.593G>A c.(592-594)gGg>gAg p.G198E TBR1_uc010foy.2_5'Flank NM_006593 NP_006584 Q16650 TBR1_HUMAN Homo sapiens T-box, brain, 1 (TBR1), mRNA. 198 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 ACCCAGCCGGGGCTGGTGCCC 0.612000 62 29 0 0 0.006320 0 0 CDH4 1002 broad.mit.edu 37 20 60485547 60485547 + Missense_Mutation SNP C G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:60485547C>G uc002ybn.2 + 8 1346 c.1258C>G c.(1258-1260)Cag>Gag p.Q420E CDH4_uc002ybr.2_Missense_Mutation_p.Q383E|CDH4_uc002ybp.2_Missense_Mutation_p.Q346E NM_001794 NP_001785 P55283 CADH4_HUMAN Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA. 420 Cadherin 3. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GGACCGAGATCAGCCCCACTC 0.567000 36 14 0 0 0.003163 0 0 TNK1 8711 broad.mit.edu 37 17 7286798 7286798 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:7286798C>T uc002ggi.4 + 3 521 c.289C>T c.(289-291)Cca>Tca p.P97S TNK1_uc002ggj.4_Missense_Mutation_p.P97S|TNK1_uc010cmf.3_Non-coding_Transcript NM_001251902 NP_001238831 Q13470 TNK1_HUMAN Homo sapiens tyrosine kinase, non-receptor, 1 (TNK1), transcript variant 1, mRNA. 97 protein autophosphorylation membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1) 16 Prostate(122;0.157) CTCGGACAGCCCACGGCACCT 0.637000 21 14 0 0 0.003163 0 0 MSRB3 253827 broad.mit.edu 37 12 65720645 65720645 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:65720645C>T uc001ssn.3 + 1 263 c.137C>T c.(136-138)tCc>tTc p.S46F MSRB3_uc009zqp.3_Missense_Mutation_p.S39F|MSRB3_uc001ssm.3_Missense_Mutation_p.S39F|MSRB3_uc021qzy.1_Missense_Mutation_p.S39F NM_198080 NP_932346 Q8IXL7 MSRB3_HUMAN Homo sapiens methionine sulfoxide reductase B3 (MSRB3), transcript variant 1, mRNA. 46 protein repair endoplasmic reticulum|mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.131) GTGGTCTTTTCCCAGCAGGAA 0.433000 22 11 0 0 0.003163 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508121 106508121 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:106508121C>T uc003vdv.4 + 1 200 c.115C>T c.(115-117)Ccc>Tcc p.P39S PIK3CG_uc003vdu.3_Missense_Mutation_p.P39S|PIK3CG_uc003vdw.3_Missense_Mutation_p.P39S NM_002649 NP_002640 P48736 PK3CG_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA. 39 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 GGAGCTCATCCCCATCGAGTT 0.647000 61 41 0 0 0.006999 0 0 TFEB 7942 broad.mit.edu 37 6 41658526 41658526 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:41658526G>A uc021yzl.1 - 1 545 c.544C>T c.(544-546)Ccg>Tcg p.P182S TFEB_uc003oqs.1_Missense_Mutation_p.P115S|TFEB_uc003oqt.1_Missense_Mutation_p.P115S|TFEB_uc003oqu.1_Missense_Mutation_p.P115S|TFEB_uc003oqv.1_Missense_Mutation_p.P115S|TFEB_uc010jxo.1_Missense_Mutation_p.P115S|TFEB_uc003oqx.1_Missense_Mutation_p.P115S|TFEB_uc003oqr.1_Intron|TFEB_uc003oqw.1_Missense_Mutation_p.P115S NM_007162 NP_009093 P19484 TFEB_HUMAN Homo sapiens transcription factor EB (TFEB), transcript variant 1, mRNA. 115 embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 11 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) GGGGGTTTCGGAGAGCCCTGG 0.632000 T ALPHA renal (childhood epithelioid) 31 26 0 0 0.008361 0 0 ZNF709 163051 broad.mit.edu 37 19 12576517 12576517 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:12576517C>T uc002mtv.4 - 3 380 c.219G>A c.(217-219)agG>agA p.R73R ZNF709_uc002mtw.4_Silent_p.R41R|ZNF709_uc002mtx.4_Silent_p.R73R NM_152601 NP_689814 Q8N972 ZN709_HUMAN Homo sapiens zinc finger protein 709 (ZNF709), mRNA. 73 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 TACCTTCTTTCCTTTCACAGA 0.318000 13 9 0 0 0.008291 0 0 R3HDM1 23518 broad.mit.edu 37 2 136437804 136437804 + Missense_Mutation SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:136437804T>C uc002tuo.3 + 19 2634 c.2264T>C c.(2263-2265)tTc>tCc p.F755S R3HDM1_uc010fni.3_Missense_Mutation_p.F754S|R3HDM1_uc002tup.3_Missense_Mutation_p.F700S|R3HDM1_uc010zbh.2_Missense_Mutation_p.F503S NM_015361 NP_056176 Q15032 R3HD1_HUMAN Homo sapiens R3H domain containing 1 (R3HDM1), mRNA. 755 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) CCTGTTATGTTCCCTAATCAG 0.378000 56 28 0 0 0.012213 0 0 CD86 942 broad.mit.edu 37 3 121822563 121822563 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:121822563C>T uc003eet.3 + 2 397 c.269C>T c.(268-270)tCg>tTg p.S90L CD86_uc011bjo.2_Missense_Mutation_p.S8L|CD86_uc011bjp.2_Intron|CD86_uc003eeu.3_Missense_Mutation_p.S84L|CD86_uc021xcz.1_Missense_Mutation_p.S84L NM_175862 NP_008820 P42081 CD86_HUMAN Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA. 90 Ig-like V-type. T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) AGTTTTGATTCGGACAGTTGG 0.433000 46 31 0 0 0.010818 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102482416 102482417 + Missense_Mutation DNP AC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:102482416_102482417AC>TT uc001yks.2 + 35 7630_7631 c.7466_7467AC>TT c.(7465-7467)tac>tTT p.Y2489F DYNC1H1_uc001ykt.1_5'UTR NM_001376 NP_001367 Q14204 DYHC1_HUMAN Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA. 2489 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 CTGGAGCGCTACATTCAGGTCA 0.614000 6 4 0 0 0.004672 0 0 INCENP 3619 broad.mit.edu 37 11 61912749 61912749 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:61912749G>A uc001nsw.1 + 12 2026 c.1824G>A c.(1822-1824)gaG>gaA p.E608E INCENP_uc009ynw.1_Silent_p.E608E|INCENP_uc001nsx.1_Silent_p.E604E NM_001040694 NP_001035784 Q9NQS7 INCE_HUMAN Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA. 608 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 AGATCGACGAGAAGACTGAGA 0.572000 18 56 0 0 0.003610 0 0 TECRL 253017 broad.mit.edu 37 4 65180440 65180440 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:65180440G>A uc003hcv.3 - 4 586 c.477C>T c.(475-477)ctC>ctT p.L159L TECRL_uc003hcw.3_Silent_p.L159L NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA. 159 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 AATAAAAGAGGAGGTATATTA 0.353000 42 20 0 0 0.002299 0 0 XPO1 7514 broad.mit.edu 37 2 61709610 61709610 + Silent SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:61709610A>G uc010ypn.2 - 23 3006 c.2877T>C c.(2875-2877)agT>agC p.S959S XPO1_uc010fcl.3_Silent_p.S955S|XPO1_uc002sbj.3_Silent_p.S959S|XPO1_uc002sbk.3_Silent_p.S520S|XPO1_uc002sbh.3_Silent_p.S606S NM_003400 NP_003391 O14980 XPO1_HUMAN Homo sapiens exportin 1 (CRM1 homolog, yeast) (XPO1), mRNA. 959 intracellular protein transport|mRNA metabolic process|mRNA transport|mitotic prometaphase|viral genome transport in host cell|viral infectious cycle Cajal body|annulate lamellae|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex RNA binding|protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) TTAATGATGTACTTATTTTTC 0.328000 Mis CLL 20 21 0 0 0.012319 0 0 GBP3 2635 broad.mit.edu 37 1 89486328 89486328 + Missense_Mutation SNP T A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:89486328T>A uc001dmt.3 - 1 282 c.77A>T c.(76-78)gAa>gTa p.E26V GBP3_uc010oss.2_5'UTR|GBP3_uc001dmu.3_5'UTR|GBP3_uc001dmv.3_Non-coding_Transcript|GBP3_uc021opp.1_Missense_Mutation_p.E26V NM_018284 NP_060754 Q9H0R5 GBP3_HUMAN Homo sapiens guanylate binding protein 3 (GBP3), mRNA. 26 integral to membrane GTP binding|GTPase activity breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) TTTCAGAGCTTCTGGATTCGC 0.512000 71 46 0 0 0.003610 0 0 CSF2RA 1438 broad.mit.edu 37 X 1407760 1407761 + Nonsense_Mutation DNP TT AA AA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:1407760_1407761TT>AA uc010nct.2 + 6 774_775 c.452_453TT>AA c.(451-453)ttt>tAA p.F151* CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Nonsense_Mutation_p.F151*|CSF2RA_uc004cpq.2_Nonsense_Mutation_p.F151*|CSF2RA_uc004cpn.2_Nonsense_Mutation_p.F151*|CSF2RA_uc004cpo.2_Nonsense_Mutation_p.F151*|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Nonsense_Mutation_p.F18*|CSF2RA_uc004cpp.2_Nonsense_Mutation_p.F151*|CSF2RA_uc010ncv.2_Nonsense_Mutation_p.F151*|CSF2RA_uc004cpr.2_Nonsense_Mutation_p.F151* NM_001161529 NP_001155004 P15509 CSF2R_HUMAN Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA. 151 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GTCCAGTATTTTTTGTACATAC 0.446000 112 41 0 0 0.004672 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140188507 140188507 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:140188507G>A uc003lhi.2 + 0 1836 c.1735G>A c.(1735-1737)Gag>Aag p.E579K PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.E579K|PCDHAC2_uc011daa.2_Missense_Mutation_p.E579K NM_018907 NP_061730 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA. 592 Cadherin 5. 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) CGCAGTGAGCGAGCTGGTGCC 0.662000 45 44 0 0 0.003610 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38651210 38651210 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:38651210G>A uc010qex.1 + 2 357 c.282G>A c.(280-282)ggG>ggA p.G94G HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Silent_p.G92G Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA. TAAATGCTGGGATCATGCCTA 0.363000 61 19 0 0 0.003954 0 0 FAM83B 222584 broad.mit.edu 37 6 54804859 54804859 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:54804859C>T uc003pck.3 + 4 1206 c.1090C>T c.(1090-1092)Cct>Tct p.P364S NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 364 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TCATTTTGTTCCTAACTTTAA 0.343000 30 53 0 0 0.003610 0 0 TYSND1 219743 broad.mit.edu 37 10 71903629 71903629 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:71903629G>A uc001jqr.3 - 1 1420 c.1266C>T c.(1264-1266)ccC>ccT p.P422P TYSND1_uc001jqq.3_Non-coding_Transcript|TYSND1_uc001jqs.3_Intron|TYSND1_uc001jqt.3_Intron NM_173555 NP_775826 Q2T9J0 TYSD1_HUMAN Homo sapiens trypsin domain containing 1 (TYSND1), transcript variant 1, mRNA. 422 Serine protease. proteolysis peroxisome serine-type endopeptidase activity endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1) 9 GCACAGGGATGGGGACATCAT 0.597000 26 11 0 0 0.001368 0 0 NRAP 4892 broad.mit.edu 37 10 115349449 115349450 + Missense_Mutation DNP CC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:115349449_115349450CC>TT uc001lal.3 - 40 5227_5228 c.5063_5064GG>AA c.(5062-5064)agg>aAA p.R1688K NRAP_uc009xyb.3_Missense_Mutation_p.R441K|NRAP_uc001laj.3_Missense_Mutation_p.R1688K|NRAP_uc001lak.3_Missense_Mutation_p.R1653K NM_198060 NP_932326 Q86VF7 NRAP_HUMAN Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA. 1688 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GACCCAGGCCCCTTGCGTTGGC 0.550000 55 32 0 0 0.004672 0 0 SLC6A17 388662 broad.mit.edu 37 1 110719356 110719356 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:110719356C>T uc009wfq.3 + 5 1320 c.859C>T c.(859-861)Ccc>Tcc p.P287S NM_001010898 NP_001010898 Q9H1V8 S6A17_HUMAN Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA. 287 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity p.P287L(1) breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) CATGTTCACTCCCAAGGTAAG 0.562000 66 32 0 0 0.002836 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105484080 105484080 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:105484080C>T uc010qqu.1 - 2 203 c.136G>A c.(136-138)Gaa>Aaa p.E46K SH3PXD2A_uc001kxj.1_Missense_Mutation_p.E116K NM_014631 NP_055446 Q5TCZ1 SPD2A_HUMAN Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA. 116 PX. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) CGGAAGACTTCGTCACACTGT 0.552000 19 17 0 0 0.006122 0 0 ARFGAP3 26286 broad.mit.edu 37 22 43218307 43218307 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:43218307G>A uc003bdd.2 - 8 1001 c.781C>T c.(781-783)Ctg>Ttg p.L261L ARFGAP3_uc010gzf.2_Silent_p.L217L|ARFGAP3_uc011apu.1_Silent_p.L189L NM_014570 NP_055385 Q9NP61 ARFG3_HUMAN Homo sapiens ADP-ribosylation factor GTPase activating protein 3 (ARFGAP3), transcript variant 1, mRNA. 261 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport Golgi membrane|cytosol ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 ACCTTGGCCAGGTCTTCCTGC 0.343000 48 35 0 0 0.004878 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112704975 112704975 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:112704975C>T uc004bei.2 + 6 698 c.506C>T c.(505-507)gCc>gTc p.A169V PALM2-AKAP2_uc004beg.3_Missense_Mutation_p.A137V|PALM2-AKAP2_uc004beh.4_Missense_Mutation_p.A169V|PALM2-AKAP2_uc004bej.4_Intron|PALM2-AKAP2_uc004bek.4_Intron|PALM2-AKAP2_uc004bel.1_Intron NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA. 0 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 GCTGTGTACGCCATGGAAATT 0.398000 5 5 0 0 0.000602 0 0 UGT2A1 10941 broad.mit.edu 37 4 70504643 70504643 + Nonsense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:70504643C>T uc011caq.2 - 2 1435 c.1319G>A c.(1318-1320)tGg>tAg p.W440* UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Nonsense_Mutation_p.W239*|UGT2A1_uc021xox.1_Nonsense_Mutation_p.W239*|UGT2A1_uc010iht.3_Intron NM_001252274 NP_001239203 Q9Y4X1 UD2A1_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA. 230 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 GTATGAATTCCATTCTCCCCA 0.323000 11 11 0 0 0.002450 0 0 HSD3B2 3284 broad.mit.edu 37 1 119964868 119964868 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:119964868C>T uc001ehs.3 + 2 1517 c.744C>T c.(742-744)gtC>gtT p.V248V HSD3B2_uc021ost.1_Silent_p.V248V|HSD3B2_uc001eht.3_Silent_p.V248V|HSD3B2_uc001ehu.3_Intron NM_001166120 NP_001159592 P26439 3BHS2_HUMAN Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA. 248 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) CCCCAAGTGTCCGAGGTCAAT 0.512000 41 20 0 0 0.007413 0 0 CACNA1D 776 broad.mit.edu 37 3 53835248 53835248 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:53835248C>T uc003dgv.4 + 41 5367 c.5204C>T c.(5203-5205)tCg>tTg p.S1735L CACNA1D_uc003dgu.4_Missense_Mutation_p.S1755L|CACNA1D_uc003dgy.4_Missense_Mutation_p.S1720L|CACNA1D_uc003dgw.4_Missense_Mutation_p.S1402L|CACNA1D_uc011bes.2_Non-coding_Transcript NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. 1735 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GCAGGAAATTCGGTGTGTCAT 0.468000 43 29 0 0 0.007291 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19414281 19414281 + RNA SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr13:19414281C>T uc010tcj.1 - 0 c.31829G>A Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. TCTTCATTTTCTTGTTGTAAG 0.279000 11 5 0 0 0.001168 0 0 MECR 51102 broad.mit.edu 37 1 29533322 29533322 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:29533322G>A uc001brq.1 - 3 538 c.502C>T c.(502-504)Ccc>Tcc p.P168S MECR_uc001brp.1_Missense_Mutation_p.P92S|MECR_uc001brt.1_Missense_Mutation_p.P92S|MECR_uc010ofz.1_Missense_Mutation_p.P168S NM_016011 NP_001019903 Q9BV79 MECR_HUMAN Homo sapiens mitochondrial trans-2-enoyl-CoA reductase (MECR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 168 fatty acid biosynthetic process mitochondrion trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1) 11 Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137) GCTGTGCAGGGATTGACACCC 0.602000 41 28 0 0 0.003755 0 0 PLOD1 5351 broad.mit.edu 37 1 12004676 12004676 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:12004676C>T uc010obb.2 + 1 287 c.174C>T c.(172-174)tcC>tcT p.S58S PLOD1_uc001atm.3_Intron NM_000302 NP_000293 Q02809 PLOD1_HUMAN Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA. 25 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) GGAGCCCTTCCCCAAGTGTGA 0.632000 15 7 0 0 0.004482 0 0 SLC9C2 284525 broad.mit.edu 37 1 173526645 173526645 + Missense_Mutation SNP A C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:173526645A>C uc001giz.2 - 9 1472 c.1049T>G c.(1048-1050)tTg>tGg p.L350W SLC9C2_uc009wwe.2_5'UTR|SLC9C2_uc010pmq.1_Non-coding_Transcript NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA. 350 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity AATAGTAAGCAACCTGTGGAG 0.299000 120 85 0 0 0.003610 0 0 SEC16B 89866 broad.mit.edu 37 1 177913708 177913708 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:177913708G>A uc001glj.1 - 19 2738 c.1872C>T c.(1870-1872)atC>atT p.I624I SEC16B_uc001glk.1_Silent_p.I300I|SEC16B_uc009wwy.1_Silent_p.I178I|SEC16B_uc001glh.1_Silent_p.I282I|SEC16B_uc001gli.1_Silent_p.I623I|SEC16B_uc009wwz.1_Silent_p.I282I NM_033127 NP_149118 Q96JE7 SC16B_HUMAN Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA. 623 protein transport|vesicle-mediated transport Golgi membrane|endoplasmic reticulum membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 GGAAAGAAGGGATGAAGGATT 0.493000 66 100 0 0 0.003610 0 0 POTED 317754 broad.mit.edu 37 21 14982936 14982936 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr21:14982936G>A uc002yjb.1 + 0 439 c.387G>A c.(385-387)atG>atA p.M129I NM_174981 NP_778146 Q86YR6 POTED_HUMAN Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA. 129 plasma membrane central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 33 GCGCCTTCATGGAGCCGAGGT 0.602000 56 37 0 0 0.004289 0 0 PAPPA 5069 broad.mit.edu 37 9 119158800 119158800 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:119158800C>T uc004bjn.3 + 21 5170 c.4789C>T c.(4789-4791)Cct>Tct p.P1597S PAPPA_uc011lxq.2_Missense_Mutation_p.P972S NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 1597 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CACCCCATTCCCTATGTCCTG 0.522000 47 54 0 0 0.003610 0 0 PEG3 5178 broad.mit.edu 37 19 57326176 57326176 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:57326176G>A uc002qnu.2 - 6 3985 c.3634C>T c.(3634-3636)Cgt>Tgt p.R1212C PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R1183C|PEG3_uc002qnv.2_Missense_Mutation_p.R1212C|PEG3_uc002qnw.2_Missense_Mutation_p.R1088C|PEG3_uc002qnx.2_Missense_Mutation_p.R1086C|PEG3_uc010etr.2_Missense_Mutation_p.R1212C NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 1212 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCTGCAGCACGATTCCTCCGT 0.488000 37 17 0 0 0.006122 0 0 ANGPT4 51378 broad.mit.edu 37 20 896658 896658 + Missense_Mutation SNP G A A rs140900541 TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:896658G>A uc002wei.3 - 0 303 c.200C>T c.(199-201)aCc>aTc p.T67I ANGPT4_uc010zpn.2_Missense_Mutation_p.T61I NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN Homo sapiens angiopoietin 4 (ANGPT4), mRNA. 67 anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 TCTCTGGAGGGTGTTGGAGTC 0.607000 66 30 0 0 0.012213 0 0 EYA3 2140 broad.mit.edu 37 1 28301011 28301011 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:28301011G>A uc001bpi.2 - 17 1870 c.1688C>T c.(1687-1689)tCc>tTc p.S563F EYA3_uc010ofs.2_Missense_Mutation_p.S510F|EYA3_uc010oft.2_Missense_Mutation_p.S517F NM_001990 NP_001981 Q99504 EYA3_HUMAN Homo sapiens eyes absent homolog 3 (Drosophila) (EYA3), mRNA. 563 anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity p.V562A(1) breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTGAAGGGATACTAGGTC 0.468000 55 23 0 0 0.005443 0 0 HEATR7B2 133558 broad.mit.edu 37 5 40998216 40998216 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:40998216C>T uc003jmj.4 - 41 5186 c.4696G>A c.(4696-4698)Gca>Aca p.A1566T HEATR7B2_uc003jmi.4_Missense_Mutation_p.A1121T NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 1566 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 GCCTCAGCTGCTCTCTGGACA 0.463000 117 54 0 0 0.003610 0 0 PDE1A 5136 broad.mit.edu 37 2 183104895 183104895 + Missense_Mutation SNP C T T rs145482728 TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:183104895C>T uc002uos.3 - 3 424 c.340G>A c.(340-342)Gaa>Aaa p.E114K PDE1A_uc010zfp.1_Missense_Mutation_p.E10K|PDE1A_uc002uoq.1_Missense_Mutation_p.E114K|PDE1A_uc010zfq.1_Missense_Mutation_p.E114K|PDE1A_uc002uor.3_Missense_Mutation_p.E98K|PDE1A_uc002uou.3_Missense_Mutation_p.E80K NM_001003683 NP_001003683 P54750 PDE1A_HUMAN Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA. 114 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.E114K(2) endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) TTTGGTTTTTCCTCAGGTTTC 0.418000 60 37 0 0 0.004878 0 0 TTC3 7267 broad.mit.edu 37 21 38534350 38534350 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr21:38534350C>T uc002yvz.3 + 30 3260 c.3155C>T c.(3154-3156)tCa>tTa p.S1052L TTC3_uc011aee.1_Missense_Mutation_p.S742L|TTC3_uc002ywa.3_Missense_Mutation_p.S1052L|TTC3_uc002ywb.3_Missense_Mutation_p.S1052L|TTC3_uc010gnf.3_Missense_Mutation_p.S817L|TTC3_uc002ywc.3_Missense_Mutation_p.S742L|TTC3_uc002ywd.1_Missense_Mutation_p.S116L NM_001001894 NP_003307 P53804 TTC3_HUMAN Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA. 1052 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) ATCATCACTTCAAGTGAAGAC 0.269000 7 8 0 0 0.003080 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101816036 101816036 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:101816036G>A uc003knn.3 - 1 633 c.461C>T c.(460-462)tCa>tTa p.S154L SLCO6A1_uc003kno.3_Missense_Mutation_p.S154L|SLCO6A1_uc003knp.3_Missense_Mutation_p.S154L|SLCO6A1_uc003knq.3_Missense_Mutation_p.S154L NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA. 154 integral to membrane|plasma membrane transporter activity 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) CAGGCCAGATGAAATATCGTA 0.358000 61 23 0 0 0.002299 0 0 WFDC1 58189 broad.mit.edu 37 16 84353060 84353060 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:84353060G>A uc002fhv.3 + 3 622 c.445G>A c.(445-447)Gat>Aat p.D149N WFDC1_uc002fhw.3_Missense_Mutation_p.D149N NM_021197 NP_067020 Q9HC57 WFDC1_HUMAN Homo sapiens WAP four-disulfide core domain 1 (WFDC1), mRNA. 149 negative regulation of cell growth extracellular space serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1) 9 CACCACGGAGGATGGGGCCGA 0.637000 26 16 0 0 0.004990 0 0 SIM2 6493 broad.mit.edu 37 21 38098456 38098456 + Missense_Mutation SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr21:38098456T>C uc002yvr.2 + 5 636 c.580T>C c.(580-582)Tat>Cat p.Y194H SIM2_uc002yvq.3_Missense_Mutation_p.Y194H NM_005069 NP_005060 Q14190 SIM2_HUMAN Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA. 194 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2) 16 GATCAGGCAGTATATGCTGGA 0.612000 89 30 0 0 0.004289 0 0 DNAJB5 25822 broad.mit.edu 37 9 34996329 34996330 + Missense_Mutation DNP CC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:34996329_34996330CC>TT uc011los.2 + 2 856_857 c.495_496CC>TT c.(493-498)gacccc>gaTTcc p.P166S DNAJB5_uc003zvs.3_Missense_Mutation_p.P128S|DNAJB5_uc003zvt.3_Missense_Mutation_p.P94S NM_001135005 NP_036398 O75953 DNJB5_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 5 (DNAJB5), transcript variant 1, mRNA. 94 protein folding|response to unfolded protein heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(32;0.00575) TTCATGGGGACCCCCATGCCAC 0.594000 18 15 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179462333 179462333 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:179462333C>T uc021vsy.1 - 242 49997 c.49772G>A c.(49771-49773)gGc>gAc p.G16591D MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Non-coding_Transcript|TTN_uc021vsz.1_Missense_Mutation_p.G10286D|TTN_uc021vta.1_Missense_Mutation_p.G10219D|TTN_uc021vtb.1_Missense_Mutation_p.G10094D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 17518 Fibronectin type-III 20. 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) AGAATAGACGCCTTGATGGCT 0.403000 24 16 0 0 0.008871 0 0 SEMA3F 6405 broad.mit.edu 37 3 50225311 50225311 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:50225311C>T uc003cyj.3 + 18 2319 c.2121C>T c.(2119-2121)ttC>ttT p.F707F SEMA3F_uc003cyk.3_Silent_p.F676F NM_004186 NP_004177 Q13275 SEM3F_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA. 707 axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) CTGCCCTCTTCCCACCACTGT 0.652000 22 5 0 0 0.000602 0 0 KIAA0753 9851 broad.mit.edu 37 17 6531876 6531876 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:6531876G>A uc002gde.4 - 2 638 c.279C>T c.(277-279)tcC>tcT p.S93S KIAA0753_uc010clo.3_5'UTR|KIAA0753_uc010vte.2_5'UTR NM_014804 NP_055619 Q2KHM9 K0753_HUMAN Homo sapiens KIAA0753 (KIAA0753), mRNA. 93 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) GTCTCTCTTGGGATATGACGG 0.398000 55 26 0 0 0.003954 0 0 LTBP1 4052 broad.mit.edu 37 2 33477784 33477784 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:33477784C>T uc021vft.1 + 10 2063 c.2040C>T c.(2038-2040)taC>taT p.Y680Y LTBP1_uc002rou.3_Silent_p.Y354Y|LTBP1_uc002rov.3_Silent_p.Y354Y|LTBP1_uc010ymz.2_Silent_p.Y354Y|LTBP1_uc010yna.2_Silent_p.Y354Y NM_206943 NP_996826 Q14766 LTBP1_HUMAN Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA. 680 TB 2. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GGCCCTGTTACCGACTTGTCA 0.517000 69 45 0 0 0.003610 0 0 AK311167 0 broad.mit.edu 37 9 69067929 69067929 + Splice_Site SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:69067929G>A uc010mnq.2 + 2 c.526_splice c.e2+1 Homo sapiens cDNA, FLJ18209. TGATATGTTGGTGAGTCAGTT 0.279000 14 9 0 0 0.008291 0 0 RNF157 114804 broad.mit.edu 37 17 74155521 74155521 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:74155521G>A uc002jqz.3 - 11 1268 c.1199C>T c.(1198-1200)tCa>tTa p.S400L RNF157_uc002jra.3_Missense_Mutation_p.S400L NM_052916 NP_443148 Q96PX1 RN157_HUMAN Homo sapiens ring finger protein 157 (RNF157), mRNA. 400 zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 25 LUSC - Lung squamous cell carcinoma(166;0.187) ACTGCCATATGAAGGGAGCAT 0.592000 41 60 0 0 0.003610 0 0 GINS4 84296 broad.mit.edu 37 8 41399330 41399330 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:41399330C>T uc003xnx.3 + 6 697 c.487C>T c.(487-489)Ccc>Tcc p.P163S GINS4_uc022aug.1_Non-coding_Transcript NM_032336 NP_115712 Q9BRT9 SLD5_HUMAN Homo sapiens GINS complex subunit 4 (Sld5 homolog) (GINS4), mRNA. 163 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle cytoplasm|nucleoplasm breast(1)|lung(2)|skin(1) 4 Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147) CCTGGCAGTTCCCAAACCAGA 0.443000 12 28 0 0 0.008361 0 0 VIL1 7429 broad.mit.edu 37 2 219294156 219294156 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:219294156C>T uc002vib.3 + 5 738 c.716C>T c.(715-717)gCc>gTc p.A239V VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Missense_Mutation_p.A239V|VIL1_uc002vic.1_Missense_Mutation_p.A239V NM_007127 NP_009058 P09327 VILI_HUMAN Homo sapiens villin 1 (VIL1), mRNA. 239 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTGAAGGCGGCCGTGCCCGAC 0.632000 34 24 0 0 0.003954 0 0 FAM126B 285172 broad.mit.edu 37 2 201853036 201853036 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:201853036G>A uc002uws.4 - 10 1128 c.940C>T c.(940-942)Cgg>Tgg p.R314W FAM126B_uc002uwu.3_Missense_Mutation_p.R232W|FAM126B_uc002uwv.3_Missense_Mutation_p.R314W NM_173822 NP_776183 Q8IXS8 F126B_HUMAN Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA. 314 intracellular endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 ATTGCAGTCCGAGAAATCCTC 0.423000 55 40 0 0 0.010771 0 0 LRRC37A5P 652972 broad.mit.edu 37 9 114371468 114371468 + RNA SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:114371468A>G uc022bly.1 - 1 c.638T>C Homo sapiens chromosome 9 open reading frame 29 (C9orf29), non-coding RNA. GGTCCGGATAACATGAGAAAC 0.502000 28 47 0 0 0.003610 0 0 ATP2A3 489 broad.mit.edu 37 17 3839721 3839721 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:3839721G>A uc002fwy.2 - 15 2537 c.2364C>T c.(2362-2364)atC>atT p.I788I ATP2A3_uc002fwz.2_Silent_p.I788I|ATP2A3_uc002fxa.2_Silent_p.I788I|ATP2A3_uc002fxb.2_Silent_p.I788I|ATP2A3_uc002fxc.2_Silent_p.I788I|ATP2A3_uc002fxd.2_Silent_p.I788I|ATP2A3_uc002fwx.2_Silent_p.I788I NM_174953 NP_777613 Q93084 AT2A3_HUMAN Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA. 788 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) GCTGCACAGGGATCAGGGCTT 0.632000 54 17 0 0 0.007413 0 0 LCE2A 353139 broad.mit.edu 37 1 152671415 152671415 + Missense_Mutation SNP C T T rs112496497 TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:152671415C>T uc021oze.1 + 0 38 c.38C>T c.(37-39)cCt>cTt p.P13L LCE2A_uc001faj.3_Missense_Mutation_p.P13L NM_178428 NP_848515 Q5TA79 LCE2A_HUMAN Homo sapiens late cornified envelope 2A (LCE2A), mRNA. 13 Cys-rich. keratinization breast(1)|large_intestine(1)|liver(2)|lung(4) 8 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGCCAGCCCCCTCCCAAGTGC 0.552000 69 92 0 0 0.003610 0 0 CSMD1 64478 broad.mit.edu 37 8 2857600 2857600 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:2857600C>T uc022aqr.1 - 52 8473 c.8083G>A c.(8083-8085)Ggc>Agc p.G2695S CSMD1_uc011kwj.2_Missense_Mutation_p.G2025S|CSMD1_uc010lrg.3_Missense_Mutation_p.G706S NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 2696 Sushi 18. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TAACTGAAGCCATCTCCACTA 0.468000 17 46 0 0 0.003610 0 0 KCND3 3752 broad.mit.edu 37 1 112321074 112321074 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:112321074C>T uc001ebu.1 - 5 1982 c.1502G>A c.(1501-1503)cGa>cAa p.R501Q KCND3_uc001ebv.1_Intron NM_004980 NP_004971 Q9UK17 KCND3_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA. 501 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) GGTGGAGGTTCGTACAGATAA 0.413000 59 24 0 0 0.005443 0 0 DUSP1 1843 broad.mit.edu 37 5 172195795 172195795 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:172195795C>T uc003mbv.2 - 3 1322 c.1074G>A c.(1072-1074)caG>caA p.Q358Q DUSP1_uc003mbu.2_Silent_p.Q246Q NM_004417 NP_004408 P28562 DUS1_HUMAN Homo sapiens dual specificity phosphatase 1 (DUSP1), mRNA. 358 Tyrosine-protein phosphatase. cell cycle|endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 10 Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729) all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GBM - Glioblastoma multiforme(465;0.0103) TAATGGGGCTCTGAAGGTAGC 0.582000 58 24 0 0 0.003330 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12887980 12887980 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:12887980G>A uc002gnr.4 + 19 2399 c.2072G>A c.(2071-2073)gGa>gAa p.G691E ARHGAP44_uc010vvk.2_Missense_Mutation_p.G691E|ARHGAP44_uc010vvl.2_Missense_Mutation_p.G685E|ARHGAP44_uc002gns.4_Missense_Mutation_p.G485E|ARHGAP44_uc010vvm.2_Missense_Mutation_p.G685E|ARHGAP44_uc010vvn.2_Non-coding_Transcript|ARHGAP44_uc021tqh.1_5'Flank NM_014859 NP_055674 Q17R89 RHG44_HUMAN Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA. 691 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 TCACCCTATGGACTGAGCTAC 0.667000 16 9 0 0 0.004482 0 0 SIPA1 6494 broad.mit.edu 37 11 65414473 65414473 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:65414473G>A uc001ofb.2 + 7 2135 c.1968G>A c.(1966-1968)gcG>gcA p.A656A SIPA1_uc010rom.1_Silent_p.A554A|SIPA1_uc001ofd.2_Silent_p.A656A|MIR4489_uc021qlo.1_5'Flank NM_006747 NP_694985 Q96FS4 SIPA1_HUMAN Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA. 656 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 10 GCGGGGAGGCGATCACGCTGC 0.716000 1 3 0 0 0.009096 0 0 SPTB 6710 broad.mit.edu 37 14 65260452 65260452 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:65260452G>A uc001xht.3 - 12 1980 c.1929C>T c.(1927-1929)ttC>ttT p.F643F SPTB_uc001xhr.3_Silent_p.F643F|SPTB_uc001xhs.3_Silent_p.F643F|SPTB_uc001xhu.3_Silent_p.F643F NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 643 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CCATCTCCCAGAAGAACTTCC 0.542000 40 18 0 0 0.007413 0 0 SULT1A2 6799 broad.mit.edu 37 16 28603629 28603630 + Missense_Mutation DNP GG AC AC TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:28603629_28603630GG>AC uc002dqg.2 - 6 1080_1081 c.729_730CC>GT c.(727-732)gtccgc>gtGTgc p.R244C NPIPL1_uc010vct.2_Intron|SULT1A2_uc002dqh.2_Missense_Mutation_p.R244C NM_177528 NP_803564 P50226 ST1A2_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 (SULT1A2), transcript variant 2, mRNA. 244 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2) 14 AACTCCCGGCGGACGGTGGTGT 0.599000 100 47 0 0 0.004672 0 0 SAMD9L 219285 broad.mit.edu 37 7 92762825 92762825 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:92762825G>A uc003umh.1 - 4 3676 c.2460C>T c.(2458-2460)tcC>tcT p.S820S SAMD9L_uc003umj.1_Silent_p.S820S|SAMD9L_uc003umi.1_Silent_p.S820S|SAMD9L_uc010lfb.1_Silent_p.S820S|SAMD9L_uc003umk.1_Silent_p.S820S|SAMD9L_uc010lfc.1_Silent_p.S820S|SAMD9L_uc010lfd.1_Silent_p.S820S|SAMD9L_uc022ahh.1_Silent_p.S820S NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 820 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CTGCTAAAACGGAATGGATGG 0.378000 59 55 0 0 0.003610 0 0 SLC15A2 6565 broad.mit.edu 37 3 121634164 121634164 + Splice_Site SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:121634164G>A uc003eep.2 + 6 772 c.619_splice c.e6+1 p.G207_splice SLC15A2_uc011bjn.1_Splice_Site_p.G176_splice NM_021082 NP_066568 Q16348 S15A2_HUMAN Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA. 207 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) CATGCTGAGAGGTTAGGATTT 0.438000 25 18 0 0 0.008871 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18435596 18435596 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:18435596G>A uc001rdt.3 + 1 697 c.581G>A c.(580-582)aGg>aAg p.R194K PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.R194K|PIK3C2G_uc010sic.2_5'UTR NM_004570 NP_004561 O75747 P3C2G_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA. 194 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) GAGAATAAAAGGAGTGGACAT 0.383000 85 65 0 0 0.003610 0 0 PCLO 27445 broad.mit.edu 37 7 82582812 82582812 + Missense_Mutation SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:82582812A>G uc003uhx.2 - 4 7746 c.7457T>C c.(7456-7458)gTt>gCt p.V2486A PCLO_uc003uhv.2_Missense_Mutation_p.V2486A|PCLO_uc010lec.3_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 2417 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 CTTAGGAGGAACAGGAGGAGG 0.463000 69 45 0 0 0.011902 0 0 GRID2 2895 broad.mit.edu 37 4 94006285 94006285 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:94006285G>A uc011cdt.2 + 2 642 c.384G>A c.(382-384)agG>agA p.R128R GRID2_uc010ikx.3_Silent_p.R128R|GRID2_uc011cdu.2_Intron|GRID2_uc011cdv.1_Non-coding_Transcript NM_001510 NP_001501 O43424 GRID2_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA. 128 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GGACCCCAAGGAGTGGCTGTG 0.552000 42 35 0 0 0.003755 0 0 SPOCK3 50859 broad.mit.edu 37 4 167663158 167663158 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:167663158C>T uc011cjq.1 - 7 1077 c.1020G>A c.(1018-1020)aaG>aaA p.K340K SPOCK3_uc021xuf.1_Silent_p.K331K|SPOCK3_uc011cjr.1_Silent_p.K211K|SPOCK3_uc003iri.1_Silent_p.K331K|SPOCK3_uc011cjs.1_Silent_p.K280K|SPOCK3_uc003irj.1_Silent_p.K328K|SPOCK3_uc011cjt.1_Silent_p.K239K|SPOCK3_uc011cjp.2_Silent_p.K288K|SPOCK3_uc011cju.1_Silent_p.K235K|SPOCK3_uc011cjv.1_Silent_p.K233K NM_001204353 NP_001191282 Q9BQ16 TICN3_HUMAN Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA. 331 Thyroglobulin type-1. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity p.K328N(1) 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) CTAGGAGCTTCTTTACCCCTT 0.378000 71 33 0 0 0.003755 0 0 SBNO1 55206 broad.mit.edu 37 12 123815827 123815827 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:123815827G>A uc010tap.2 - 6 1005 c.1005C>T c.(1003-1005)atC>atT p.I335I SBNO1_uc010tao.2_Silent_p.I334I|SBNO1_uc010taq.2_Intron|SBNO1_uc001ueu.2_Silent_p.I334I|SBNO1_uc001uet.2_Silent_p.I335I|SBNO1_uc001uev.2_Silent_p.I333I|SBNO1_uc009zxy.1_Silent_p.I300I NM_001167856 NP_001161328 A3KN83 SBNO1_HUMAN Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA. 335 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) AATTTTCATAGATGATTCCTG 0.448000 47 38 0 0 0.006230 0 0 DUOX2 50506 broad.mit.edu 37 15 45396185 45396185 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:45396185G>A uc001zun.3 - 19 2830 c.2627C>T c.(2626-2628)tCc>tTc p.S876F DUOX2_uc010bea.3_Missense_Mutation_p.S876F NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 876 EF-hand 2. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) TTCGTCCTTGGAGAGGAAGCC 0.483000 24 21 0 0 0.002299 0 0 ITGAM 3684 broad.mit.edu 37 16 31341482 31341483 + Missense_Mutation DNP GG AA AA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:31341482_31341483GG>AA uc002ebr.3 + 25 3158_3159 c.3060_3061GG>AA c.(3058-3063)gtggtg>gtAAtg p.V1021M ITGAM_uc002ebq.3_Missense_Mutation_p.V1020M|ITGAM_uc010can.3_Missense_Mutation_p.V426M NM_001145808 NP_001139280 P11215 ITAM_HUMAN Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA. 1020 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 AGGCCCCCGTGGTGGTGAGAAG 0.599000 12 7 0 0 0.004672 0 0 abParts 0 broad.mit.edu 37 14 106993982 106993982 + RNA SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:106993982C>T uc021ser.1 - 233 c.9272G>A Parts of antibodies, mostly variable regions. CCAGCCCCTTCCCTGGAGCCT 0.537000 122 85 0 0 0.003610 0 0 CCDC33 80125 broad.mit.edu 37 15 74622662 74622662 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:74622662G>A uc002axo.3 + 11 1817 c.1423G>A c.(1423-1425)Ggg>Agg p.G475R CCDC33_uc002axp.3_Missense_Mutation_p.G297R|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Missense_Mutation_p.G68R|CCDC33_uc002axr.3_Missense_Mutation_p.G68R NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA. 678 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GGAGGAAGAGGGGCAGGGCAA 0.642000 11 6 0 0 0.001168 0 0 ASAH2 56624 broad.mit.edu 37 10 52002997 52002997 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:52002997C>T uc001jjd.3 - 2 475 c.475G>A c.(475-477)Gac>Aac p.D159N ASAH2_uc009xos.3_Missense_Mutation_p.D159N NM_019893 NP_063946 Q9NR71 ASAH2_HUMAN Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA. 159 apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity large_intestine(1)|lung(9)|urinary_tract(1) 11 ATGCCTATGTCGATGCTGACA 0.468000 88 41 0 0 0.010771 0 0 COPB2 9276 broad.mit.edu 37 3 139076710 139076710 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:139076710C>T uc003etf.4 - 21 2846 c.2716G>A c.(2716-2718)Gat>Aat p.D906N COPB2_uc011bmv.2_Missense_Mutation_p.D877N|COPB2_uc010hui.3_Missense_Mutation_p.D877N NM_004766 NP_004757 P35606 COPB2_HUMAN Homo sapiens coatomer protein complex, subunit beta 2 (beta prime) (COPB2), transcript variant 1, mRNA. 906 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity p.D906G(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 TACAGTCAATCATCCAAAATA 0.338000 7 5 0 0 0.000602 0 0 GTPBP1 9567 broad.mit.edu 37 22 39117758 39117758 + Silent SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:39117758T>C uc003awg.3 + 4 1000 c.846T>C c.(844-846)aaT>aaC p.N282N NM_004286 NP_004277 O00178 GTPB1_HUMAN Homo sapiens GTP binding protein 1 (GTPBP1), mRNA. 282 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) TGGGCAGCAATGCTGGCATCG 0.532000 36 16 0 0 0.003163 0 0 ADAM10 102 broad.mit.edu 37 15 59009855 59009855 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:59009855G>A uc002afd.1 - 1 571 c.127C>T c.(127-129)Cac>Tac p.H43Y ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron NM_001110 NP_001101 O14672 ADA10_HUMAN Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA. 43 Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|protein phosphorylation|response to tumor necrosis factor Golgi-associated vesicle|cell surface|endomembrane system|integral to membrane|nucleus|plasma membrane SH3 domain binding|integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|zinc ion binding breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) TGTTTTTGGTGTAATGAATCC 0.333000 16 9 0 0 0.004482 0 0 BMP5 653 broad.mit.edu 37 6 55684473 55684473 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:55684473G>A uc003pcq.3 - 1 1375 c.663C>T c.(661-663)atC>atT p.I221I BMP5_uc011dxf.2_Silent_p.I221I NM_021073 NP_066551 P22003 BMP5_HUMAN Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA. 221 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) ATTCCTTGATGATTTGATATA 0.328000 26 40 0 0 0.006999 0 0 UTRN 7402 broad.mit.edu 37 6 144820410 144820410 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:144820410G>A uc003qkt.3 + 32 4703 c.4611G>A c.(4609-4611)caG>caA p.Q1537Q NM_007124 NP_009055 P46939 UTRO_HUMAN Homo sapiens utrophin (UTRN), mRNA. 1537 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AAGGAAAACAGGATCTGGAAA 0.438000 13 22 0 0 0.004656 0 0 ZP2 7783 broad.mit.edu 37 16 21221024 21221024 + Silent SNP C T T rs150656642 TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:21221024C>T uc010bwn.1 - 3 457 c.375G>A c.(373-375)ccG>ccA p.P125P ZP2_uc002dii.2_Silent_p.P86P|ZP2_uc010bwo.3_Silent_p.P125P NM_003460 NP_003451 Q05996 ZP2_HUMAN Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA. 86 binding of sperm to zona pellucida|intracellular protein transport Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) AAGTGCAGTTCGGCATGTCGA 0.498000 50 33 0 0 0.004289 0 0 STC2 8614 broad.mit.edu 37 5 172755148 172755149 + Missense_Mutation DNP CC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:172755148_172755149CC>TT uc003mco.1 - 0 1358_1359 c.48_49GG>AA c.(46-51)ttggcc>ttAAcc p.A17T STC2_uc003mcn.1_5'Flank NM_003714 NP_003705 O76061 STC2_HUMAN Homo sapiens stanniocalcin 2 (STC2), mRNA. 17 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3) 25 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TCAAAGGTGGCCAACACCAAAG 0.634000 64 29 0 0 0.004672 0 0 ANO4 121601 broad.mit.edu 37 12 101493412 101493412 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:101493412G>A uc010svm.1 + 21 2635 c.2063G>A c.(2062-2064)aGg>aAg p.R688K ANO4_uc001thw.2_Missense_Mutation_p.R653K|ANO4_uc001thx.2_Missense_Mutation_p.R688K|ANO4_uc001thy.2_Missense_Mutation_p.R208K NM_178826 NP_849148 Q32M45 ANO4_HUMAN Homo sapiens anoctamin 4 (ANO4), mRNA. 688 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 GGACCTGAAAGGAAAATAAGT 0.358000 HNSCC(74;0.22) 29 21 0 0 0.012319 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966225 41966225 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:41966225C>T uc010skn.2 + 9 1652 c.1644C>T c.(1642-1644)aaC>aaT p.N548N PDZRN4_uc001rmq.4_Silent_p.N290N|PDZRN4_uc009zjz.3_Silent_p.N288N|PDZRN4_uc001rmr.3_Silent_p.N175N NM_001164595 NP_001158067 Q6ZMN7 PZRN4_HUMAN Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA. 548 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) CATCCAACAACCATGAGAAGG 0.423000 15 9 0 0 0.006214 0 0 IFNAR2 3455 broad.mit.edu 37 21 34619116 34619116 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr21:34619116C>T uc002yrd.3 + 4 643 c.315C>T c.(313-315)gcC>gcT p.A105A IFNAR2_uc002yrb.3_Silent_p.A105A|IFNAR2_uc002yrc.3_Silent_p.A105A|IFNAR2_uc002yre.3_Silent_p.A105A|IFNAR2_uc002yrf.3_Silent_p.A105A|IFNAR2_uc002yri.1_5'Flank|IFNAR2_uc002yrh.1_5'Flank NM_207585 NP_997468 P48551 INAR2_HUMAN Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA. 105 JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway extracellular region|extracellular space|integral to plasma membrane protein kinase binding|type I interferon binding|type I interferon receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 11 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) CACACGAGGCCTATGTCACCG 0.443000 19 7 0 0 0.001984 0 0 REN 5972 broad.mit.edu 37 1 204131262 204131262 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:204131262C>T uc001haq.2 - 1 172 c.128G>A c.(127-129)cGa>cAa p.R43Q NM_000537 NP_000528 P00797 RENI_HUMAN Homo sapiens renin (REN), mRNA. 43 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1) 19 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) CAGGCTTTCTCGGATTGAGGG 0.567000 OREG0014128 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 10 0 0 0.010729 0 0 SALL2 6297 broad.mit.edu 37 14 21993392 21993392 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:21993392G>A uc001wbe.3 - 1 752 c.470C>T c.(469-471)aCc>aTc p.T157I SALL2_uc010tly.2_Missense_Mutation_p.T155I|SALL2_uc010tlz.1_Intron|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Intron|SALL2_uc001wbg.1_Intron NM_005407 NP_005398 Q9Y467 SALL2_HUMAN Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA. 157 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) GGGTGCAGGGGTCGATTCTGG 0.647000 26 26 0 0 0.003954 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52130501 52130501 + Splice_Site SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:52130501C>T uc002pxe.3 - 7 1422 c.1283_splice c.e7-1 p.G428_splice NM_003830 NP_003821 O15389 SIGL5_HUMAN Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA. 428 cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) GTTCGATCTCCCTGCAGAAAA 0.567000 29 17 0 0 0.004990 0 0 MAP2 4133 broad.mit.edu 37 2 210559961 210559961 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:210559961C>T uc002vde.1 + 6 3315 c.3067C>T c.(3067-3069)Cca>Tca p.P1023S MAP2_uc002vdc.1_Missense_Mutation_p.P1023S|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.P1019S NM_002374 NP_002365 P11137 MAP2_HUMAN Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA. 1023 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TAGTTCAGTGCCAGAGATAGC 0.428000 24 17 0 0 0.006122 0 0 SMG8 55181 broad.mit.edu 37 17 57288417 57288417 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:57288417C>T uc002ixi.3 + 0 1047 c.1005C>T c.(1003-1005)ttC>ttT p.F335F NM_018149 NP_060619 Q8ND04 SMG8_HUMAN Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA. 335 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 ACCAAGCTTTCGTGTACATAG 0.502000 62 27 0 0 0.007291 0 0 PSAP 5660 broad.mit.edu 37 10 73588778 73588778 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:73588778G>A uc001jsm.3 - 4 536 c.432C>T c.(430-432)caC>caT p.H144H NM_002778 NP_002769 P07602 SAP_HUMAN Homo sapiens prosaposin (PSAP), transcript variant 1, mRNA. 144 glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation Golgi apparatus|extracellular space|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 13 GCTCTGCTAGGTGCTTCTGGA 0.572000 57 24 0 0 0.007291 0 0 SLC6A1 6529 broad.mit.edu 37 3 11059122 11059122 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:11059122G>A uc010hdq.3 + 2 636 c.225G>A c.(223-225)ggG>ggA p.G75G NM_003042 NP_003033 P30531 SC6A1_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA. 75 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity p.C74C(1) breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) ATCTCTGCGGGAAAAATGGTG 0.607000 33 14 0 0 0.004007 0 0 PTGIS 5740 broad.mit.edu 37 20 48140776 48140776 + Splice_Site SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:48140776C>T uc002xut.3 - 6 728 c.674_splice c.e6-1 p.G225_splice PTGIS_uc010zyi.2_Splice_Site_p.G86_splice NM_000961 NP_000952 Q16647 PTGIS_HUMAN Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA. 225 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) GTCCTTGTCCCCTGCAGGGAC 0.602000 37 24 0 0 0.003954 0 0 DBNDD2 55861 broad.mit.edu 37 20 44037156 44037156 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:44037156C>T uc002xof.3 + 0 528 c.355C>T c.(355-357)Cgg>Tgg p.R119W DBNDD2_uc002xnx.3_Missense_Mutation_p.R17W|DBNDD2_uc021wei.1_Missense_Mutation_p.R17W|DBNDD2_uc002xnz.3_Missense_Mutation_p.R17W|DBNDD2_uc002xoa.3_Missense_Mutation_p.R17W|DBNDD2_uc021wej.1_Missense_Mutation_p.R17W|DBNDD2_uc002xob.3_Missense_Mutation_p.R115W|DBNDD2_uc002xoc.3_Missense_Mutation_p.R17W|DBNDD2_uc002xod.3_Missense_Mutation_p.R17W|DBNDD2_uc002xog.3_Missense_Mutation_p.R119W NM_001048225 NP_001041690 Q9BQY9 DBND2_HUMAN Homo sapiens dysbindin (dystrobrevin binding protein 1) domain containing 2 (DBNDD2), transcript variant 5, mRNA. 115 negative regulation of protein kinase activity cytoplasm protein binding breast(1)|lung(2) 3 Myeloproliferative disorder(115;0.0122) GCTCCGCCTTCGGGAGCGGCA 0.552000 45 34 0 0 0.002836 0 0 FAM75D1 389763 broad.mit.edu 37 9 84607623 84607623 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:84607623G>A uc004amn.3 + 3 2285 c.2238G>A c.(2236-2238)aaG>aaA p.K746K NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA. 746 integral to membrane cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 88 ATGTTCTAAAGAAGTCCGCAT 0.453000 9 14 0 0 0.006122 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507374 74507374 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:74507374C>T uc001dfy.4 - 6 1433 c.1241G>A c.(1240-1242)gGt>gAt p.G414D LRRIQ3_uc001dfz.4_Splice_Site NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA. 414 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 GAGTTTCATACCAGCTCTTTG 0.363000 54 34 0 0 0.003271 0 0 PRUNE2 158471 broad.mit.edu 37 9 79323205 79323205 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:79323205C>T uc010mpk.3 - 7 4109 c.3985G>A c.(3985-3987)Gaa>Aaa p.E1329K PRUNE2_uc022bih.1_Missense_Mutation_p.E1151K NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 1329 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CCCTGGGCTTCCTTCTCACTT 0.527000 16 20 0 0 0.012319 0 0 ATP2A2 488 broad.mit.edu 37 12 110783854 110783854 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:110783854C>T uc001tqk.4 + 18 3353 c.2790C>T c.(2788-2790)atC>atT p.I930I ATP2A2_uc001tql.4_Silent_p.I930I|ATP2A2_uc021rdt.1_Silent_p.I778I|ATP2A2_uc001tqn.4_Silent_p.I7I|ATP2A2_uc009zvn.3_5'Flank NM_170665 NP_733765 P16615 AT2A2_HUMAN Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA. 930 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 GGGAGAACATCTGGCTCGTGG 0.597000 62 31 0 0 0.012213 0 0 ACSM3 6296 broad.mit.edu 37 16 20781570 20781570 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:20781570G>A uc010vba.2 + 0 265 c.190G>A c.(190-192)Gaa>Aaa p.E64K ACSM3_uc002dhq.3_Missense_Mutation_p.E72K|ACSM3_uc002dhr.3_Missense_Mutation_p.E72K NM_005622 NP_005613 Q53FZ2 ACSM3_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA. 72 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 21 GACTGATAAGGAAAAGGTATG 0.418000 14 9 0 0 0.004482 0 0 NRK 203447 broad.mit.edu 37 X 105152852 105152852 + Nonsense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:105152852C>T uc004emd.3 + 12 1522 c.1219C>T c.(1219-1221)Cag>Tag p.Q407* NRK_uc010npc.1_Nonsense_Mutation_p.Q75* NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Homo sapiens Nik related kinase (NRK), mRNA. 407 Gln-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 CCAGGCACTTCAGCAGCTACA 0.582000 HNSCC(51;0.14) 10 35 0 0 0.005524 0 0 ITGB7 3695 broad.mit.edu 37 12 53594079 53594079 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:53594079G>A uc009zmv.3 - 1 220 c.149C>T c.(148-150)tCc>tTc p.S50F ITGB7_uc001scc.3_Missense_Mutation_p.S50F|ITGB7_uc010snz.2_Non-coding_Transcript|ITGB7_uc010soa.1_Missense_Mutation_p.S50F NM_000889 NP_000880 P26010 ITB7_HUMAN Homo sapiens integrin, beta 7 (ITGB7), mRNA. 50 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 CTTCTGGCAGGAGGGGGCTGG 0.552000 28 16 0 0 0.002299 0 0 ZAN 7455 broad.mit.edu 37 7 100349677 100349677 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:100349677C>T uc003uwj.3 + 13 2114 c.1949C>T c.(1948-1950)tCc>tTc p.S650F ZAN_uc003uwk.3_Missense_Mutation_p.S650F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 650 66 X heptapeptide repeats (approximate) (mucin-like domain). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCCACCATTTCCACAGAAAAA 0.522000 70 48 0 0 0.003610 0 0 OPRL1 4987 broad.mit.edu 37 20 62724125 62724125 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:62724125C>T uc002yic.3 + 2 471 c.52C>T c.(52-54)Ctt>Ttt p.L18F OPRL1_uc002yid.3_Missense_Mutation_p.L18F|OPRL1_uc021wgs.1_Missense_Mutation_p.L18F|OPRL1_uc002yif.4_Missense_Mutation_p.L18F NM_182647 NP_872588 P41146 OPRX_HUMAN Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA. 18 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane X-opioid receptor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) CGGCAGCCACCTTCAGGGCAA 0.647000 55 28 0 0 0.003755 0 0 MDGA1 266727 broad.mit.edu 37 6 37612346 37612346 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:37612346C>T uc003onu.1 - 12 3507 c.2328G>A c.(2326-2328)caG>caA p.Q776Q MDGA1_uc003onv.1_Silent_p.Q45Q NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA. 776 MAM. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 TGAGGGCATTCTGCCGCGTCC 0.567000 26 11 0 0 0.001368 0 0 C6orf25 80739 broad.mit.edu 37 6 31691441 31691441 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:31691441C>T uc011doc.2 + 1 127 c.87C>T c.(85-87)gaC>gaT p.D29D LY6G6C_uc003nwh.3_5'Flank|LY6G6C_uc010jtd.3_5'Flank|C6orf25_uc021yux.1_Silent_p.D29D|C6orf25_uc003nwk.3_Silent_p.D29D|C6orf25_uc011dod.2_Silent_p.D29D|C6orf25_uc003nwn.3_Silent_p.D29D|C6orf25_uc011doe.2_Silent_p.D29D|C6orf25_uc003nwo.3_Silent_p.D29D NM_138272 NP_612116 O95866 G6B_HUMAN Homo sapiens chromosome 6 open reading frame 25 (C6orf25), transcript variant 2, mRNA. 29 Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 GCCCTGGGGACCGGGTGAATC 0.657000 96 63 0 0 0.003610 0 0 LAMB4 22798 broad.mit.edu 37 7 107717458 107717458 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:107717458G>A uc010ljo.1 - 16 2139 c.2055C>T c.(2053-2055)tcC>tcT p.S685S LAMB4_uc003vey.2_Silent_p.S685S NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN Homo sapiens laminin, beta 4 (LAMB4), mRNA. 685 Laminin IV type B. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 AGACATCTATGGAATATTGTA 0.398000 46 41 0 0 0.008740 0 0 OTOGL 283310 broad.mit.edu 37 12 80770955 80770955 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:80770955G>A uc001szd.3 + 56 6813 c.6807G>A c.(6805-6807)agG>agA p.R2269R OTOGL_uc021rba.1_Silent_p.R288R|OTOGL_uc009zsg.2_Silent_p.R149R NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CGGTCATAAGGAAACAGGACT 0.333000 26 15 0 0 0.008871 0 0 ZFHX3 463 broad.mit.edu 37 16 72992931 72992931 + Nonsense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:72992931G>A uc002fck.3 - 1 1787 c.1114C>T c.(1114-1116)Cga>Tga p.R372* ZFHX3_uc002fcl.3_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 372 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.R372*(2) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CCTTCCATTCGAATGCCACTA 0.537000 70 32 0 0 0.003271 0 0 C15orf33 196951 broad.mit.edu 37 15 49882096 49882096 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:49882096C>T uc001zxl.2 - 3 508 c.214G>A c.(214-216)Gaa>Aaa p.E72K C15orf33_uc001zxm.3_Missense_Mutation_p.E72K NM_152647 NP_689860 Q96M60 CO033_HUMAN Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA. 72 endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 25 all_lung(180;0.00187) all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124) GGAACATTTTCCCATAGGTGT 0.308000 34 25 0 0 0.003330 0 0 ZNF705A 440077 broad.mit.edu 37 12 8329731 8329731 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:8329731C>T uc001qud.1 + 4 527 c.455C>T c.(454-456)tCt>tTt p.S152F NM_001004328 NP_001004328 Q6ZN79 Z705A_HUMAN Homo sapiens zinc finger protein 705A (ZNF705A), mRNA. 152 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4) 18 Kidney(36;0.0877) TGTGGAAAATCTCTTCGTAAT 0.358000 126 86 0 0 0.003610 0 0 AIM1L 55057 broad.mit.edu 37 1 26672965 26672965 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:26672965C>T uc001bmd.4 - 1 334 c.184G>A c.(184-186)Gaa>Aaa p.E62K NM_001039775 NP_001034864 Q8N1P7 AIM1L_HUMAN Homo sapiens absent in melanoma 1-like (AIM1L), mRNA. 0 Beta/gamma crystallin 'Greek key' 1. sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) ACTTCCACTTCCTCTCGACGG 0.542000 18 10 0 0 0.010729 0 0 MUC16 94025 broad.mit.edu 37 19 9083300 9083300 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:9083300C>T uc002mkp.3 - 0 8719 c.8515G>A c.(8515-8517)Gct>Act p.A2839T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2839 Ser-rich.|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 GATTGAGTAGCTGTCAGTCTG 0.512000 11 12 0 0 0.010729 0 0 C2CD2 25966 broad.mit.edu 37 21 43309253 43309253 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr21:43309253G>A uc002yzw.3 - 13 2313 c.2071C>T c.(2071-2073)Ccc>Tcc p.P691S C2CD2_uc002yzs.3_Missense_Mutation_p.P160S|C2CD2_uc002yzt.3_Missense_Mutation_p.P307S|C2CD2_uc002yzu.3_Missense_Mutation_p.P523S|C2CD2_uc002yzv.3_Missense_Mutation_p.P536S NM_015500 NP_950251 Q9Y426 CU025_HUMAN Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA. 691 cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 GGCTCCACGGGGGCACCGTTC 0.597000 21 10 0 0 0.008291 0 0 CNN3 1266 broad.mit.edu 37 1 95367748 95367748 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:95367748C>T uc001dqz.4 - 3 598 c.313G>A c.(313-315)Gaa>Aaa p.E105K CNN3_uc010otv.2_Missense_Mutation_p.E64K|CNN3_uc010otx.2_Intron NM_001839 NP_001830 Q15417 CNN3_HUMAN Homo sapiens calponin 3, acidic (CNN3), mRNA. 105 CH. actomyosin structure organization|smooth muscle contraction actin binding|calmodulin binding|tropomyosin binding|troponin C binding p.F104F(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2) 18 all_lung(203;0.00206)|Lung NSC(277;0.00948) all cancers(265;0.0325)|Epithelial(280;0.0861) TCATTTGCTTCGAATATGTCA 0.383000 38 23 0 0 0.002299 0 0 SLC1A7 6512 broad.mit.edu 37 1 53559150 53559150 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:53559150G>A uc021onn.1 - 5 948 c.780C>T c.(778-780)atC>atT p.I260I SLC1A7_uc021onm.1_Silent_p.I188I|SLC1A7_uc001cux.3_5'Flank|SLC1A7_uc001cuy.3_Silent_p.I260I|SLC1A7_uc021ono.1_Non-coding_Transcript NM_006671 NP_006662 O00341 EAA5_HUMAN Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA. 260 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) CCACCGCCACGATCTTCATGA 0.632000 15 6 0 0 0.001984 0 0 SUPT6H 6830 broad.mit.edu 37 17 27028629 27028629 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:27028629G>A uc010crt.3 + 37 5359 c.5167G>A c.(5167-5169)Gag>Aag p.E1723K SUPT6H_uc002hby.3_Missense_Mutation_p.E1723K NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA. 1723 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) ACTCCTGGACGAGATGGATCG 0.642000 39 22 0 0 0.003330 0 0 GABRR3 200959 broad.mit.edu 37 3 97726706 97726706 + RNA SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:97726706C>T uc021xbo.1 - 6 c.773G>A GABRR3_uc021xbp.1_Intron NM_001105580 A8MPY1 GBRR3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 3 (GABRR3), mRNA. gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity large_intestine(2)|lung(1) 3 GGACTTGTTTCCGTGTTTCCA 0.373000 8 5 0 0 0.000602 0 0 KCNH7 90134 broad.mit.edu 37 2 163253266 163253266 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:163253266C>T uc002uch.2 - 10 2826 c.2597G>A c.(2596-2598)aGg>aAg p.R866K NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA. 866 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) GCTCTCATGCCTTAGGTTGAA 0.338000 19 7 0 0 0.001984 0 0 DDX18 8886 broad.mit.edu 37 2 118588242 118588242 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:118588242C>T uc002tlh.1 + 13 2054 c.1955C>T c.(1954-1956)tCc>tTc p.S652F NM_006773 NP_006764 Q9NVP1 DDX18_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA. 652 ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GTTGAGAAATCCAAAATCTTT 0.403000 57 34 0 0 0.003755 0 0 RPGR 6103 broad.mit.edu 37 X 38129039 38129039 + Missense_Mutation SNP T G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:38129039T>G uc004deb.3 - 18 2456 c.2288A>C c.(2287-2289)aAg>aCg p.K763T RPGR_uc004dea.3_Non-coding_Transcript|RPGR_uc004dec.3_Non-coding_Transcript NM_000328 NP_000319 Q92834 RPGR_HUMAN Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant A, mRNA. 763 Glu-rich. intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 ATTGTTATTCTTGACAATCTT 0.348000 6 37 0 0 0.006999 0 0 KIAA1549 57670 broad.mit.edu 37 7 138529097 138529097 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:138529097G>A uc011kql.2 - 17 5466 c.5417C>T c.(5416-5418)tCg>tTg p.S1806L KIAA1549_uc011kqi.2_Missense_Mutation_p.S590L|KIAA1549_uc011kqk.2_Missense_Mutation_p.S590L|KIAA1549_uc011kqj.2_Missense_Mutation_p.S1806L NM_001164665 NP_001158137 Q9HCM3 K1549_HUMAN Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA. 1806 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 CCGGGCCACCGACGGCATCTC 0.572000 O BRAF pilocytic astrocytoma 32 31 0 0 0.003755 0 0 MUC16 94025 broad.mit.edu 37 19 9058524 9058524 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:9058524G>A uc002mkp.3 - 2 29126 c.28922C>T c.(28921-28923)tCc>tTc p.S9641F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9643 Ser-rich.|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 AACTTCATCGGAGATGTCTAG 0.512000 31 24 0 0 0.003954 0 0 TCRA 0 broad.mit.edu 37 14 23001499 23001499 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:23001499C>T uc021rqo.1 + 0 50 c.7C>T c.(7-9)Cta>Tta p.L3L TCRA_uc001wbw.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_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc001wdv.4_Intron|TCRA_uc001wec.3_Intron|TCRA_uc001wee.4_Intron|TCRA_uc010tmt.1_Intron|TCRA_uc010ajv.1_Intron|TCRA_uc001weg.2_Intron|TCRA_uc001wei.3_Intron|TCRA_uc001wej.3_Intron|TCRA_uc001wek.3_Intron|TCRA_uc001wel.3_Intron|TCRA_uc001wem.4_Intron|TCRA_uc001wen.2_Intron|TCRA_uc001weo.2_Intron|TCRA_uc001wep.3_Intron|TCRA_uc001weq.3_Intron|TCRA_uc021rqa.1_Intron|TCRA_uc021rqb.1_Intron|TCRA_uc001wet.3_Intron|TCRA_uc001weu.3_Intron|TCRA_uc001wev.3_Intron|TCRA_uc010tmv.2_Intron|TCRA_uc001wez.2_Intron|TCRA_uc010ajx.1_Intron|TCRA_uc001wfb.2_Intron|TCRA_uc021rqh.1_Intron|TCRA_uc001wfd.1_Intron|TCRA_uc001wfe.3_Intron|TCRA_uc001wfg.2_Intron|TCRA_uc001wfh.1_Intron|TCRA_uc001wfi.2_Intron|TCRA_uc001wfk.3_Intron|TCRA_uc001wfl.3_Intron|TCRA_uc010ajy.2_Intron|TCRA_uc001wfn.3_Intron|TCRA_uc001wfp.3_Intron|TCRA_uc001wfq.2_Intron|TCRA_uc001wfr.1_Intron|TCRA_uc010ajz.1_Intron|TCRA_uc001wfs.2_Intron|TCRA_uc001wft.2_Intron|TCRA_uc001wfu.3_Intron|TCRA_uc001wfv.2_Intron|TCRA_uc001wfw.1_Intron|TCRA_uc001wfx.3_Intron|TCRA_uc001wfy.2_Intron|TCRA_uc001wfz.1_Intron|TCRA_uc001wgb.3_Intron|TCRA_uc001wgc.2_Intron|TCRA_uc001wge.4_5'Flank|TCRA_uc021rqp.1_5'Flank SubName: Full=Alpha-chain C region; Flags: Fragment; GACTATGCTTCTAGTCTCTCC 0.433000 10 6 0 0 0.001984 0 0 ZNF530 348327 broad.mit.edu 37 19 58118305 58118305 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:58118305C>T uc002qpk.2 + 2 1632 c.1412C>T c.(1411-1413)tCa>tTa p.S471L ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_Intron NM_020880 NP_065931 Q6P9A1 ZN530_HUMAN Homo sapiens zinc finger protein 530 (ZNF530), mRNA. 471 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TGTGAAAAATCATTTAGTTGC 0.418000 31 17 0 0 0.008871 0 0 ACSM1 116285 broad.mit.edu 37 16 20696634 20696634 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:20696634G>A uc002dhm.1 - 1 352 c.284C>T c.(283-285)aCc>aTc p.T95I ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.T95I NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA. 95 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 TACACGGCGGGTTAGGTCTCC 0.557000 65 47 0 0 0.003610 0 0 KRT10 3858 broad.mit.edu 37 17 38975816 38975816 + Silent SNP C A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:38975816C>A uc002hvi.3 - 5 1352 c.1326G>T c.(1324-1326)ctG>ctT p.L442L TMEM99_uc021txc.1_Intron|TMEM99_uc002hvj.1_Intron|TMEM99_uc021txd.1_Intron NM_000421 NP_000412 P13645 K1C10_HUMAN Homo sapiens keratin 10 (KRT10), mRNA. 442 Coil 2.|Gly-rich.|Rod. L -> Q (in BCIE; dbSNP:rs58026994). epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) TTTCATTCTCCAGTCGGATCT 0.408000 51 66 5.40308e-56 5.94501e-56 0.003610 1 0 MUC4 4585 broad.mit.edu 37 3 195493606 195493606 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:195493606C>T uc021xjp.1 - 7 13702 c.13546G>A c.(13546-13548)Gaa>Aaa p.E4516K MUC4_uc003fuz.3_Intron|MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_Intron|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Intron|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Missense_Mutation_p.E25K|MUC4_uc021xjn.1_Missense_Mutation_p.E205K|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.E80K|MUC4_uc021xjj.1_Missense_Mutation_p.E80K|MUC4_uc021xjk.1_Missense_Mutation_p.E257K|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Missense_Mutation_p.E280K|MUC4_uc003fvp.3_Missense_Mutation_p.E229K NM_018406 NP_060876 Q99102 MUC4_HUMAN Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA. 1273 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GGGCTGTTTTCGAAATAGCCA 0.547000 25 27 0 0 0.009535 0 0 HSPG2 3339 broad.mit.edu 37 1 22176663 22176663 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:22176663G>A uc009vqd.3 - 56 7360 c.7320C>T c.(7318-7320)gtC>gtT p.V2440V HSPG2_uc001bfj.3_Silent_p.V2439V NM_005529 NP_005520 P98160 PGBM_HUMAN Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA. 2439 Ig-like C2-type 10. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) ACTCGATCCGGACCGTGGGGG 0.632000 56 28 0 0 0.007291 0 0 FHDC1 85462 broad.mit.edu 37 4 153897236 153897236 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:153897236C>T uc003inf.2 + 10 2868 c.2793C>T c.(2791-2793)ccC>ccT p.P931P NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN Homo sapiens FH2 domain containing 1 (FHDC1), mRNA. 931 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) CCCAGAATCCCCCCAGCAGCA 0.672000 16 6 0 0 0.001168 0 0 PIPOX 51268 broad.mit.edu 37 17 27380587 27380587 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:27380587C>T uc002hdr.1 + 3 960 c.634C>T c.(634-636)Ccc>Tcc p.P212S NM_016518 NP_057602 Q9P0Z9 SOX_HUMAN Homo sapiens pipecolic acid oxidase (PIPOX), mRNA. 212 tetrahydrofolate metabolic process peroxisome L-pipecolate oxidase activity|sarcosine oxidase activity endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Lung NSC(42;0.015) Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) Glycine(DB00145) GCTCCTCCGTCCCCTGGGCAT 0.552000 38 17 0 0 0.006122 0 0 ITLN1 55600 broad.mit.edu 37 1 160853271 160853271 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:160853271G>A uc001fxc.3 - 2 220 c.104C>T c.(103-105)cCa>cTa p.P35L NM_017625 NP_060095 Q8WWA0 ITLN1_HUMAN Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA. 35 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GGGCAGAGATGGAGACGAAGA 0.443000 90 29 0 0 0.005524 0 0 TNFRSF9 3604 broad.mit.edu 37 1 7998817 7998817 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:7998817C>T uc001aot.3 - 3 433 c.172G>A c.(172-174)Gga>Aga p.G58R NM_001561 NP_001552 Q07011 TNR9_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA. 58 induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) GTCCTTTGTCCACCTGCGCTG 0.413000 103 62 0 0 0.003610 0 0 A2ML1 144568 broad.mit.edu 37 12 8995903 8995903 + Nonsense_Mutation SNP T A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:8995903T>A uc001quz.4 + 11 1520 c.1422T>A c.(1420-1422)taT>taA p.Y474* A2ML1_uc001qva.1_Nonsense_Mutation_p.Y54*|A2ML1_uc010sgm.2_5'Flank NM_144670 NP_653271 B3KVV6 B3KVV6_HUMAN Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA. 318 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 TGGTGGATTATTACATCGACC 0.572000 38 28 0 0 0.009535 0 0 CARD6 84674 broad.mit.edu 37 5 40852466 40852466 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:40852466C>T uc003jmg.3 + 2 1107 c.1032C>T c.(1030-1032)atC>atT p.I344I NM_032587 NP_115976 Q9BX69 CARD6_HUMAN Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA. 344 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 GGGATTCAATCCTCAGTCACA 0.468000 27 12 0 0 0.001368 0 0 HGFAC 3083 broad.mit.edu 37 4 3451138 3451138 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:3451138C>T uc003ghc.3 + 13 1963 c.1960C>T c.(1960-1962)Ccc>Tcc p.P654S HGFAC_uc010icw.3_Missense_Mutation_p.P661S NM_001528 NP_001519 Q04756 HGFA_HUMAN Homo sapiens HGF activator (HGFAC), mRNA. 654 proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GCTTGTGGCTCCCTCCTGACC 0.647000 17 10 0 0 0.006214 0 0 DMKN 93099 broad.mit.edu 37 19 36003654 36003654 + Silent SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:36003654A>G uc002nzm.4 - 1 648 c.465T>C c.(463-465)ggT>ggC p.G155G DMKN_uc002nzj.3_5'Flank|DMKN_uc002nzl.4_5'Flank|DMKN_uc002nzk.4_5'Flank|DMKN_uc002nzo.4_Silent_p.G155G|DMKN_uc002nzn.4_Silent_p.G155G|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc010xsw.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc002nzx.4_5'Flank|DMKN_uc002nzy.4_5'Flank|DMKN_uc002nzz.3_Silent_p.G155G|DMKN_uc002oaa.4_Silent_p.G155G|DMKN_uc002oab.4_Silent_p.G155G|DMKN_uc002oac.4_Silent_p.G155G NM_033317 NP_201574 Q6E0U4 DMKN_HUMAN Homo sapiens dermokine (DMKN), transcript variant 2, mRNA. 155 Gly-rich. extracellular region NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 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) CTCCAAGGCCACCTTGAGAGC 0.572000 28 15 0 0 0.002450 0 0 POTEE 445582 broad.mit.edu 37 2 131976120 131976120 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:131976120C>T uc002tsn.2 + 0 197 c.145C>T c.(145-147)Cac>Tac p.H49Y PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA. 49 ATP binding TTCTGGAGACCACGACGACTC 0.602000 158 89 0 0 0.003610 0 0 TYR 7299 broad.mit.edu 37 11 88911295 88911296 + Missense_Mutation DNP CC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:88911295_88911296CC>TT uc001pcs.3 + 0 256_257 c.174_175CC>TT c.(172-177)atcctt>atTTtt p.L59F NM_000372 NP_000363 P14679 TYRO_HUMAN Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA. 59 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity p.L59H(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) GTCAGAATATCCTTCTGTCCAA 0.550000 5 25 0 0 0.004672 0 0 CSRNP2 81566 broad.mit.edu 37 12 51458120 51458120 + Silent SNP G T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:51458120G>T uc021qxx.1 - 4 1553 c.1041C>A c.(1039-1041)gcC>gcA p.A347A CSRNP2_uc001rxu.2_Silent_p.A347A NM_030809 NP_110436 Q9H175 CSRN2_HUMAN Homo sapiens cysteine-serine-rich nuclear protein 2 (CSRNP2), transcript variant 1, mRNA. 347 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 14 AGTCCAGGCTGGCACTAGAGC 0.582000 47 29 1.13719e-10 1.23358e-10 0.008361 1 0 HEATR8 374977 broad.mit.edu 37 1 55119419 55119419 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:55119419G>A uc010ooe.1 + 2 1144 c.820G>A c.(820-822)Gaa>Aaa p.E274K HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc001cxo.2_Missense_Mutation_p.E274K|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Intron|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.E274K|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA. 274 Ser-rich. integral to membrane binding breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 AAGTTCAAAGGAAACCATGAA 0.478000 34 28 0 0 0.008361 0 0 GALNTL2 117248 broad.mit.edu 37 3 16252733 16252733 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:16252733C>T uc003car.4 + 4 1657 c.1182C>T c.(1180-1182)ctC>ctT p.L394L GALNTL2_uc003caq.4_Silent_p.L127L NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA. 394 Catalytic subdomain B. Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1) 33 GTGAAAACCTCGAACTGTCTT 0.532000 26 14 0 0 0.001855 0 0 ISM2 145501 broad.mit.edu 37 14 77948836 77948836 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:77948836C>T uc001xtz.3 - 3 876 c.802G>A c.(802-804)Gaa>Aaa p.E268K ISM2_uc001xua.3_Intron|ISM2_uc001xty.3_Missense_Mutation_p.E180K NM_199296 NP_954993 Q6H9L7 ISM2_HUMAN Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA. 268 extracellular region endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 21 tcctccttttcctcccccttc 0.567000 27 28 0 0 0.004656 0 0 WDR19 57728 broad.mit.edu 37 4 39230141 39230141 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:39230141C>T uc003gtv.3 + 16 1967 c.1813C>T c.(1813-1815)Cct>Tct p.P605S WDR19_uc011byi.2_Missense_Mutation_p.P445S|WDR19_uc003gtw.1_Missense_Mutation_p.P202S NM_025132 NP_079408 Q8NEZ3 WDR19_HUMAN Homo sapiens WD repeat domain 19 (WDR19), mRNA. 605 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 CACCAAAGTTCCTTTTGCTCA 0.408000 38 20 0 0 0.012319 0 0 RFX1 5989 broad.mit.edu 37 19 14094355 14094356 + Missense_Mutation DNP GG AC AC TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:14094355_14094356GG>AC uc002mxv.3 - 2 643_644 c.371_372CC>GT c.(370-372)acc>aGT p.T124S RFX1_uc010dzi.2_Missense_Mutation_p.T124S NM_002918 NP_002909 P22670 RFX1_HUMAN Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA. 124 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) TCTGGCTGGCGGTGGAGCCGGG 0.698000 18 8 0 0 0.004672 0 0 OR2T2 401992 broad.mit.edu 37 1 248616210 248616210 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:248616210G>A uc001iek.1 + 0 112 c.112G>A c.(112-114)Gtg>Atg p.V38M NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA. 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 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) CATCTTTGTGGTGGCTATAAC 0.527000 260 67 0 0 0.003610 0 0 HNF1A 6927 broad.mit.edu 37 12 121437150 121437150 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:121437150C>T uc001tzg.3 + 7 1604 c.1581C>T c.(1579-1581)acC>acT p.T527T HNF1A_uc010szn.2_Silent_p.T527T|HNF1A_uc021rfa.1_Silent_p.T527T|HNF1A_uc021rfb.1_Silent_p.T399T|HNF1A_uc021rfc.1_Non-coding_Transcript NM_000545 NP_000536 P20823 HNF1A_HUMAN Homo sapiens HNF1 homeobox A (HNF1A), mRNA. 527 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TCACCGACACCACCAACCTGA 0.677000 Hepatic Adenoma, Familial Clustering of 221 58 0 0 0.003610 0 0 AADACL4 343066 broad.mit.edu 37 1 12704574 12704574 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:12704574C>T uc001auf.3 + 0 9 c.9C>T c.(7-9)gtC>gtT p.V3V NM_001013630 NP_001013652 Q5VUY2 ADCL4_HUMAN Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA. 3 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) ACATGGCTGTCCCCTGGCTAG 0.567000 48 40 0 0 0.011902 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179815820 179815820 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:179815820G>A uc001gnl.3 - 6 1613 c.799C>T c.(799-801)Cca>Tca p.P267S TOR1AIP2_uc001gnk.3_Missense_Mutation_p.P267S NM_001199260 NP_001186189 Q8NFQ8 TOIP2_HUMAN Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA. 267 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2) 18 CTCTGGCCTGGAAATTTATCT 0.493000 100 22 0 0 0.002780 0 0 C15orf23 90417 broad.mit.edu 37 15 40675049 40675049 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:40675049G>A uc001zll.3 + 0 128 c.13G>A c.(13-15)Gaa>Aaa p.E5K C15orf23_uc001zlo.3_Missense_Mutation_p.E5K|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.E5K NM_033286 NP_150628 Q9Y448 T4AF1_HUMAN Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA. 5 nucleus protein binding central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 14 all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798) GGCGGCTCCCGAAGCCCCGCC 0.582000 13 13 0 0 0.001855 0 0 PCLO 27445 broad.mit.edu 37 7 82585057 82585057 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:82585057C>T uc003uhx.2 - 4 5501 c.5212G>A c.(5212-5214)Gat>Aat p.D1738N PCLO_uc003uhv.2_Missense_Mutation_p.D1738N NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 1669 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 CTGTCCTCATCAAGTGATGAT 0.502000 145 105 0 0 0.003610 0 0 GJA8 2703 broad.mit.edu 37 1 147381370 147381370 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:147381370G>A uc021ovm.1 + 0 1288 c.1288G>A c.(1288-1290)Gat>Aat p.D430N GJA8_uc001epu.2_Missense_Mutation_p.D430N NM_005267 NP_005258 P48165 CXA8_HUMAN Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA. 430 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) CAGGTCAGACGATCTAACCGT 0.493000 49 25 0 0 0.004656 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56733114 56733114 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:56733114C>T uc002qmq.3 - 4 1487 c.1321G>A c.(1321-1323)Gaa>Aaa p.E441K ZSCAN5A_uc010ygi.2_Missense_Mutation_p.E324K|ZSCAN5A_uc002qmr.3_Missense_Mutation_p.E441K|ZSCAN5A_uc002qms.1_Missense_Mutation_p.E440K NM_024303 NP_077279 Q9BUG6 ZSA5A_HUMAN Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA. 441 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TCTTTACATTCGAAGGGCTTC 0.532000 26 21 0 0 0.002299 0 0 HNF4A 3172 broad.mit.edu 37 20 43057089 43057089 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:43057089G>A uc002xma.3 + 8 1333 c.1244G>A c.(1243-1245)gGa>gAa p.G415E HNF4A_uc002xlu.3_Missense_Mutation_p.G393E|HNF4A_uc002xlv.3_Missense_Mutation_p.G393E|HNF4A_uc010ggq.3_Missense_Mutation_p.G408E|HNF4A_uc002xlz.3_Missense_Mutation_p.G415E NM_000457 NP_000448 P41235 HNF4A_HUMAN Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA. 415 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CTCAGCAACGGACAGATGTGT 0.587000 162 101 0 0 0.003610 0 0 DHRSX 207063 broad.mit.edu 37 X 2343329 2343330 + Missense_Mutation DNP AG CA CA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:2343329_2343330AG>CA uc004cqf.4 - 1 174_175 c.125_126CT>TG c.(124-126)cct>cTG p.P42L NM_145177 NP_660160 Q8N5I4 DHRSX_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) X-linked (DHRSX), mRNA. 42 binding|oxidoreductase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1) 16 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CGACACGGTCAGGTCGTGGGGG 0.450000 55 56 0 0 0.004672 0 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51350476 51350476 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:51350476C>T uc001zyy.3 - 2 581 c.481G>A c.(481-483)Gaa>Aaa p.E161K NM_207381 NP_997264 Q5GJ75 TP8L3_HUMAN Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA. 161 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 11 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) TTGTGGGCTTCCTTCTTGTTG 0.463000 126 62 0 0 0.003610 0 0 KBTBD5 131377 broad.mit.edu 37 3 42727633 42727633 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:42727633G>A uc003clv.1 + 0 623 c.523G>A c.(523-525)Gac>Aac p.D175N NM_152393 NP_689606 Q2TBA0 KBTB5_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA. 175 BACK. breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(284;0.214) ACTCTCGGCCGACGAGCTCAT 0.677000 8 7 0 0 0.001984 0 0 POFUT2 23275 broad.mit.edu 37 21 46685454 46685454 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr21:46685454G>A uc002zhc.3 - 8 1258 c.1233C>T c.(1231-1233)ttC>ttT p.F411F POFUT2_uc002zha.3_Non-coding_Transcript|POFUT2_uc002zhb.3_Non-coding_Transcript|POFUT2_uc002zhd.3_3'UTR NM_133635 NP_598368 Q9Y2G5 OFUT2_HUMAN Homo sapiens protein O-fucosyltransferase 2 (POFUT2), transcript variant 3, mRNA. 411 fucose metabolic process endoplasmic reticulum peptide-O-fucosyltransferase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(79;0.243) GGTCTCCGCAGAACCTGTTGT 0.557000 42 27 0 0 0.006320 0 0 PFAS 5198 broad.mit.edu 37 17 8158942 8158942 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:8158942C>T uc002gkr.3 + 4 648 c.507C>T c.(505-507)ccC>ccT p.P169P PFAS_uc010vuv.2_Intron NM_012393 NP_036525 O15067 PUR4_HUMAN Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA. 169 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TGCCGGAACCCCTCAATGGCC 0.597000 22 18 0 0 0.007413 0 0 TBC1D15 64786 broad.mit.edu 37 12 72266708 72266708 + Splice_Site SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:72266708G>A uc001swu.3 + 3 205 c.130_splice c.e3-1 p.D44_splice TBC1D15_uc009zrv.2_Splice_Site|TBC1D15_uc001sww.3_Splice_Site|TBC1D15_uc010stt.2_Splice_Site_p.D52_splice|TBC1D15_uc001swv.3_Splice_Site_p.D44_splice NM_022771 NP_073608 Q8TC07 TBC15_HUMAN Homo sapiens TBC1 domain family, member 15 (TBC1D15), transcript variant 1, mRNA. 44 Rab GTPase activator activity|protein binding NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCTTTCTCTAGGATGCCGAAG 0.294000 75 48 0 0 0.003610 0 0 LGR6 59352 broad.mit.edu 37 1 202287996 202287996 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:202287996G>A uc001gxu.3 + 17 2565 c.2565G>A c.(2563-2565)gcG>gcA p.A855A LGR6_uc001gxv.3_Silent_p.A803A|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.A716A NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA. 855 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 CCTATGCTGCGGCCGGGGAGC 0.632000 93 52 0 0 0.003610 0 0 CYP4B1 1580 broad.mit.edu 37 1 47276522 47276522 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:47276522C>T uc001cqn.4 + 1 307 c.223C>T c.(223-225)Cac>Tac p.H75Y CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Missense_Mutation_p.H75Y|CYP4B1_uc009vym.3_Missense_Mutation_p.H75Y|CYP4B1_uc010omk.2_Intron|CYP4B1_uc010oml.1_5'Flank NM_001099772 NP_001093242 P13584 CP4B1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA. 75 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) GTCCTGGGCCCACCAGTTCCC 0.562000 32 10 0 0 0.006214 0 0 ZNF768 79724 broad.mit.edu 37 16 30536347 30536347 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:30536347G>A uc002dyk.4 - 1 1290 c.1114C>T c.(1114-1116)Ccc>Tcc p.P372S ZNF768_uc010vex.2_Missense_Mutation_p.P341S|ZNF768_uc010vew.2_Missense_Mutation_p.P341S NM_024671 NP_078947 Q9H5H4 ZN768_HUMAN Homo sapiens zinc finger protein 768 (ZNF768), mRNA. 372 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 CAGCTGTAGGGCCGCTCGTGG 0.632000 15 7 0 0 0.001984 0 0 PFKFB1 5207 broad.mit.edu 37 X 54960284 54960284 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:54960284C>T uc004dty.1 - 12 1397 c.1326G>A c.(1324-1326)gaG>gaA p.E442E PFKFB1_uc010nkd.1_Silent_p.E250E|PFKFB1_uc011mol.1_Silent_p.E377E NM_002625 NP_002616 P16118 F261_HUMAN Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA. 442 Fructose-2,6-bisphosphatase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1) 24 TGTTCACGGCCTCCACATTCA 0.542000 6 50 0 0 0.003610 0 0 CELSR3 1951 broad.mit.edu 37 3 48690561 48690561 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:48690561G>A uc003cuf.1 - 11 5718 c.5718C>T c.(5716-5718)ctC>ctT p.L1906L CELSR3_uc010hkg.3_5'Flank|CELSR3_uc003cul.3_Silent_p.L1836L NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA. 1836 Laminin G-like 2. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GGTCCAGAAGGAGATGGGAAG 0.627000 39 19 0 0 0.008871 0 0 COL20A1 57642 broad.mit.edu 37 20 61929325 61929325 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:61929325C>T uc011aau.2 + 2 246 c.146C>T c.(145-147)tCg>tTg p.S49L NM_020882 NP_065933 Q9P218 COKA1_HUMAN Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA. 49 Fibronectin type-III 1. cell adhesion collagen|extracellular space structural molecule activity p.S49S(1) NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) TGGAGAGAGTCGGAGGGGAGC 0.637000 35 16 0 0 0.012319 0 0 SALL1 6299 broad.mit.edu 37 16 51175240 51175240 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:51175240C>T uc021tif.1 - 1 924 c.602G>A c.(601-603)gGa>gAa p.G201E SALL1_uc021tid.1_Missense_Mutation_p.G201E|SALL1_uc021tie.1_Missense_Mutation_p.G298E|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 298 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CTGTGCCAATCCAGCTGCTGC 0.517000 71 38 0 0 0.004878 0 0 DCHS2 54798 broad.mit.edu 37 4 155253658 155253660 + Missense_Mutation DNP TC CT CT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:155253658_155253660TC>CT uc003inw.2 - 8 2203_2205 c.2203_2205GA>AG c.(2203-2205)gga>AG p.G735del DCHS2_uc003inx.2_Missense_Mutation_p.G1234del NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA. 735 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TGAAGAATTTTCCATCAGACAAA 0.384000 37 23 0 0 0.004672 0 0 TMEM132D 121256 broad.mit.edu 37 12 130184679 130184679 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:130184679G>A uc009zyl.1 - 1 972 c.644C>T c.(643-645)tCc>tTc p.S215F NM_133448 NP_597705 Q14C87 T132D_HUMAN Homo sapiens transmembrane protein 132D (TMEM132D), mRNA. 215 integral to membrane p.S215F(2) 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) CTGGTCCACGGACTTCCTCCT 0.687000 26 42 0 0 0.007835 0 0 VPS13C 54832 broad.mit.edu 37 15 62228933 62228933 + Missense_Mutation SNP T A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:62228933T>A uc002agz.3 - 47 5709 c.5618A>T c.(5617-5619)gAt>gTt p.D1873V VPS13C_uc002aha.3_Missense_Mutation_p.D1830V|VPS13C_uc002ahb.2_Missense_Mutation_p.D1873V|VPS13C_uc002ahc.2_Missense_Mutation_p.D1830V NM_020821 NP_065872 Q709C8 VP13C_HUMAN Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA. 1873 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TGTCAAGTCATCTTCACTGAG 0.353000 15 15 0 0 0.006122 0 0 CXorf41 139212 broad.mit.edu 37 X 106456205 106456205 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:106456205G>A uc004end.3 + 2 437 c.100G>A c.(100-102)Gcc>Acc p.A34T CXorf41_uc004enc.3_Missense_Mutation_p.A34T NM_001169154 NP_775765 Q9NQM4 CX041_HUMAN Homo sapiens chromosome X open reading frame 41 (CXorf41), transcript variant 1, mRNA. 34 haematopoietic_and_lymphoid_tissue(1)|lung(5) 6 AGCTCTGGAAGCCCTCTCTAA 0.358000 8 42 0 0 0.003610 0 0 SERPINB13 5275 broad.mit.edu 37 18 61259698 61259698 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr18:61259698C>T uc010xep.2 + 3 537 c.369C>T c.(367-369)taC>taT p.Y123Y SERPINB13_uc002ljc.3_Silent_p.Y114Y|SERPINB13_uc002ljd.3_5'UTR|SERPINB13_uc010xeq.2_Intron|SERPINB13_uc010xer.2_Intron NM_012397 NP_036529 Q9UIV8 SPB13_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA. 114 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 AAAAAACATACCTCTTCCTTC 0.408000 20 16 0 0 0.008871 0 0 PLEC 5339 broad.mit.edu 37 8 145003683 145003683 + Missense_Mutation SNP G C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:145003683G>C uc003zaf.1 - 23 3561 c.3391C>G c.(3391-3393)Ctg>Gtg p.L1131V PLEC_uc003zab.1_Missense_Mutation_p.L994V|PLEC_uc003zac.1_Missense_Mutation_p.L998V|PLEC_uc003zad.2_Missense_Mutation_p.L994V|PLEC_uc003zae.1_Missense_Mutation_p.L962V|PLEC_uc003zag.1_Missense_Mutation_p.L972V|PLEC_uc003zah.2_Missense_Mutation_p.L980V|PLEC_uc003zaj.2_Missense_Mutation_p.L1021V NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 1131 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TCCAGCTGCAGCCGGATGTCT 0.672000 12 21 0 0 0.012319 0 0 CD300LG 146894 broad.mit.edu 37 17 41939261 41939261 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:41939261G>A uc002iem.3 + 6 1050 c.981G>A c.(979-981)tcG>tcA p.S327S NM_145273 NP_660316 Q6UXG3 CLM9_HUMAN Homo sapiens CD300 molecule-like family member g (CD300LG), transcript variant 1, mRNA. 327 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) TGGGCTTCTCGAAGTTTGTCT 0.607000 19 16 0 0 0.006122 0 0 SLC9C2 284525 broad.mit.edu 37 1 173552728 173552728 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:173552728C>T uc001giz.2 - 5 980 c.557G>A c.(556-558)gGa>gAa p.G186E SLC9C2_uc010pmq.1_Non-coding_Transcript NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA. 186 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity CAATGATTCTCCTCTAATGAG 0.318000 46 59 0 0 0.003610 0 0 LRRC8E 80131 broad.mit.edu 37 19 7964377 7964377 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:7964377G>A uc002mir.3 + 2 1071 c.970G>A c.(970-972)Gga>Aga p.G324R NM_025061 NP_079337 Q6NSJ5 LRC8E_HUMAN Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA. 324 integral to membrane p.Y323C(2)|p.G324*(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10) 35 GTGCATCTACGGACTTACCTG 0.582000 27 22 0 0 0.012319 0 0 PM20D1 148811 broad.mit.edu 37 1 205819062 205819062 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:205819062C>T uc001hdj.3 - 0 215 c.139G>A c.(139-141)Gaa>Aaa p.E47K PM20D1_uc009xbr.3_Non-coding_Transcript NM_152491 NP_689704 Q6GTS8 P20D1_HUMAN Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA. 47 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) GCGACGCGTTCCTCTTTGCTG 0.592000 85 20 0 0 0.012319 0 0 REEP5 7905 broad.mit.edu 37 5 112222849 112222849 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:112222849C>T uc003kqe.1 - 3 527 c.383G>A c.(382-384)aGc>aAc p.S128N SRP19_uc011cvu.2_Intron|REEP5_uc011cvw.1_Missense_Mutation_p.S101N|REEP5_uc011cvx.1_Non-coding_Transcript|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Non-coding_Transcript NM_005669 NP_005660 Q00765 REEP5_HUMAN Homo sapiens receptor accessory protein 5 (REEP5), mRNA. 128 integral to membrane protein binding endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 5 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013) ATTAGAAGGGCTCGGGGCCAT 0.537000 18 17 0 0 0.006122 0 0 AQP4 361 broad.mit.edu 37 18 24436411 24436411 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr18:24436411C>T uc002kwa.3 - 4 799 c.736G>A c.(736-738)Ggc>Agc p.G246S AQP4_uc002kvz.3_Missense_Mutation_p.G224S NM_001650 NP_001641 P55087 AQP4_HUMAN Homo sapiens aquaporin 4 (AQP4), transcript variant a, mRNA. 246 G -> A (in Ref. 1; AAC52112). cellular response to interferon-gamma|excretion|nervous system development cytoplasm|external side of plasma membrane|integral to plasma membrane water channel activity kidney(2)|large_intestine(3)|lung(5)|skin(1) 11 all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124) TCATAAAGGCCACCAGCGAGG 0.433000 64 43 0 0 0.006999 0 0 CACNA1F 778 broad.mit.edu 37 X 49088167 49088167 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:49088167C>T uc004dnb.3 - 1 310 c.248G>A c.(247-249)cGg>cAg p.R83Q CACNA1F_uc010nip.3_Missense_Mutation_p.R83Q NM_005183 NP_005174 O60840 CAC1F_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA. 83 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity p.R82*(1) autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) GATGCAGGACCGTCGCAGAGG 0.607000 7 55 0 0 0.003610 0 0 ODZ1 10178 broad.mit.edu 37 X 123554600 123554600 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:123554600G>A uc010nqy.3 - 24 4607 c.4543C>T c.(4543-4545)Ctc>Ttc p.L1515F ODZ1_uc011muj.2_Missense_Mutation_p.L1514F|ODZ1_uc004euj.3_Missense_Mutation_p.L1508F NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 1508 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 GCCACATAGAGGGTTCCATCA 0.473000 16 85 0 0 0.003610 0 0 FLG2 388698 broad.mit.edu 37 1 152324979 152324979 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:152324979G>A uc001ezw.4 - 2 5356 c.5283C>T c.(5281-5283)tcC>tcT p.S1761S AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 1761 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATGAACTATGGATTCTGACT 0.498000 216 167 0 0 0.003610 0 0 SEPT5 5413 broad.mit.edu 37 22 19709347 19709347 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:19709347G>A uc002zpv.2 + 9 942 c.817G>A c.(817-819)Gag>Aag p.E273K SEPT5_uc002zpw.1_Intron|SEPT5_uc002zpx.1_Non-coding_Transcript|GP1BB_uc002zpz.2_5'UTR NM_002688 NP_002679 Q99719 SEPT5_HUMAN Homo sapiens septin 5 (SEPT5), transcript variant 1, mRNA. 273 cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting plasma membrane|septin complex|synaptic vesicle GTP binding|GTPase activity|protein binding|structural molecule activity lung(1)|upper_aerodigestive_tract(1) 2 Colorectal(54;0.0993) CCCCGCAGTGGAGAACCAGGC 0.632000 40 20 0 0 0.002299 0 0 C8B 732 broad.mit.edu 37 1 57431619 57431619 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:57431619C>T uc001cyp.3 - 0 70 c.3G>A c.(1-3)atG>atA p.M1I C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_5'UTR NM_000066 NP_000057 P07358 CO8B_HUMAN Homo sapiens complement component 8, beta polypeptide (C8B), mRNA. 1 complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 TGGAATTCTTCATTTTCCCAA 0.542000 38 40 0 0 0.007835 0 0 PARD3B 117583 broad.mit.edu 37 2 206480476 206480477 + Missense_Mutation DNP AC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:206480476_206480477AC>TT uc002var.2 + 22 3764_3765 c.3557_3558AC>TT c.(3556-3558)gac>gTT p.D1186V PARD3B_uc002vao.2_Missense_Mutation_p.D1085V|PARD3B_uc002vap.2_Missense_Mutation_p.D1124V|PARD3B_uc002vaq.2_Missense_Mutation_p.D1117V NM_205863 NP_689739 Q8TEW8 PAR3L_HUMAN Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA. 1186 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GGCAGCCCAGACCAGTACCCTT 0.619000 52 33 0 0 0.004672 0 0 ELMO2 63916 broad.mit.edu 37 20 45003020 45003020 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:45003020G>A uc010zxr.1 - 15 1476 c.1266C>T c.(1264-1266)gcC>gcT p.A422A ELMO2_uc010zxq.1_Silent_p.A142A|ELMO2_uc002xrs.1_Silent_p.A157A|ELMO2_uc002xrt.1_Silent_p.A410A|ELMO2_uc002xru.1_Silent_p.A410A|ELMO2_uc010zxs.1_Silent_p.A227A|ELMO2_uc002xrv.1_Silent_p.A129A|ELMO2_uc002xrw.3_Silent_p.A227A NM_182764 NP_877496 Q96JJ3 ELMO2_HUMAN Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA. 410 ELMO. apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane SH3 domain binding|lyase activity|receptor tyrosine kinase binding breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1) 16 Myeloproliferative disorder(115;0.0122) TGAGCTCAATGGCACTGCGGC 0.507000 59 25 0 0 0.006320 0 0 ACTN1 87 broad.mit.edu 37 14 69341639 69341639 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:69341639G>A uc001xkl.3 - 20 2926 c.2616C>T c.(2614-2616)tcC>tcT p.S872S ACTN1_uc001xkk.3_Silent_p.S468S|ACTN1_uc010ttb.2_Silent_p.S802S|ACTN1_uc001xkm.3_Silent_p.S894S|ACTN1_uc001xkn.3_Silent_p.S867S NM_001102 NP_001093 P12814 ACTN1_HUMAN Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA. 872 focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding p.S872S(2) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) CACCTGGCACGGAGTCGGGGC 0.667000 23 11 0 0 0.010729 0 0 ZNF354A 6940 broad.mit.edu 37 5 178139115 178139115 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:178139115G>A uc003mjj.3 - 4 1962 c.1764C>T c.(1762-1764)aaC>aaT p.N588N NM_005649 NP_005640 O60765 Z354A_HUMAN Homo sapiens zinc finger protein 354A (ZNF354A), mRNA. 588 regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2) 19 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) ATGACCTATGGTTGAAAAGTT 0.363000 36 19 0 0 0.006122 0 0 SLC5A12 159963 broad.mit.edu 37 11 26705386 26705386 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:26705386G>A uc001mra.2 - 10 1539 c.1226C>T c.(1225-1227)tCc>tTc p.S409F SLC5A12_uc001mrb.2_Non-coding_Transcript NM_178498 NP_848593 Q1EHB4 SC5AC_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA. 409 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 AATGCTGAGGGAAGCCTGTGG 0.517000 5 5 0 0 0.000602 0 0 HMGCS2 3158 broad.mit.edu 37 1 120307174 120307174 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:120307174C>T uc001eid.3 - 1 268 c.180G>A c.(178-180)gaG>gaA p.E60E HMGCS2_uc010oxj.2_Silent_p.E60E|HMGCS2_uc021osx.1_5'UTR NM_005518 NP_005509 P54868 HMCS2_HUMAN Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 60 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) GGAAGTAGACCTCCAGGGCCA 0.517000 263 134 0 0 0.003610 0 0 LILRP2 79166 broad.mit.edu 37 19 55221850 55221850 + RNA SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:55221850G>A uc002qgs.1 + 0 c.2250G>A LILRP2_uc002qgt.1_Intron Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA. AGCTCAGAACGAGGTGGGGCA 0.637000 14 10 0 0 0.008291 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884172 24884172 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:24884172G>A uc001wpf.4 + 8 3535 c.3217G>A c.(3217-3219)Gct>Act p.A1073T NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA. 1073 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GGATGGAAAGGCTCCCTGCCA 0.637000 69 34 0 0 0.003271 0 0 DHX57 90957 broad.mit.edu 37 2 39090588 39090588 + Missense_Mutation SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:39090588T>C uc002rrf.3 - 2 397 c.298A>G c.(298-300)Act>Gct p.T100A DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Missense_Mutation_p.T100A NM_198963 NP_945314 Q6P158 DHX57_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA. 100 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) ATATGTAGAGTCTGAAGGGGT 0.403000 40 25 0 0 0.005443 0 0 ZBTB17 7709 broad.mit.edu 37 1 16270310 16270310 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:16270310G>A uc001axl.4 - 9 1691 c.1452C>T c.(1450-1452)acC>acT p.T484T ZBTB17_uc010obs.2_Silent_p.T408T|ZBTB17_uc010obq.2_Silent_p.T402T|ZBTB17_uc010obr.2_Silent_p.T484T NM_003443 NP_003434 Q13105 ZBT17_HUMAN Homo sapiens zinc finger and BTB domain containing 17 (ZBTB17), transcript variant 2, mRNA. 484 negative regulation of cell cycle nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2) 15 Colorectal(325;0.000257)|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;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) TACCTGAGGTGGTGAACTGCT 0.677000 13 6 0 0 0.001168 0 0 TIMM21 29090 broad.mit.edu 37 18 71816127 71816127 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr18:71816127C>T uc010dqr.1 + 0 382 c.84C>T c.(82-84)atC>atT p.I28I FBXO15_uc002lle.2_5'Flank|FBXO15_uc002llf.2_5'Flank NM_014177 NP_054896 Q9BVV7 TI21L_HUMAN Homo sapiens translocase of inner mitochondrial membrane 21 homolog (yeast) (TIMM21), nuclear gene encoding mitochondrial protein, mRNA. 28 protein transport|transmembrane transport integral to membrane|mitochondrial membrane TGCCATACATCGTGCTTAACA 0.458000 133 74 0 0 0.003610 0 0 ZNF208 7757 broad.mit.edu 37 19 22154198 22154198 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:22154198C>T uc021urr.1 - 3 3787 c.3638G>A c.(3637-3639)aGa>aAa p.R1213K ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 Homo sapiens zinc finger protein 208 (ZNF208), mRNA. breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CTTGTGATATCTAAGGGTTGA 0.373000 36 14 0 0 0.002450 0 0 GXYLT2 727936 broad.mit.edu 37 3 73016791 73016791 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:73016791C>T uc003dpg.3 + 5 1070 c.1070C>T c.(1069-1071)tCt>tTt p.S357F NM_001080393 NP_001073862 A0PJZ3 GXLT2_HUMAN Homo sapiens glucoside xylosyltransferase 2 (GXYLT2), mRNA. 357 O-glycan processing integral to membrane UDP-xylosyltransferase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 GAAGGTGTGTCTGTTCTGCAT 0.522000 16 13 0 0 0.001855 0 0 ACSM5 54988 broad.mit.edu 37 16 20448501 20448501 + Splice_Site SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:20448501G>A uc002dhe.3 + 11 1583 c.1436_splice c.e11+1 p.S479_splice NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA. 479 fatty acid metabolic process mitochondrial matrix ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 AATTCTTCAAGGTCAAGCTGT 0.488000 91 48 0 0 0.003610 0 0 SLC25A17 10478 broad.mit.edu 37 22 41173122 41173122 + Silent SNP C A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:41173122C>A uc003azc.3 - 6 755 c.615G>T c.(613-615)gtG>gtT p.V205V SLC25A17_uc010gyg.3_Non-coding_Transcript|SLC25A17_uc011aou.2_Silent_p.V168V|SLC25A17_uc003azd.3_Non-coding_Transcript|SLC25A17_uc011aov.2_Silent_p.V132V NM_006358 NP_006349 O43808 PM34_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 (SLC25A17), nuclear gene encoding mitochondrial protein, mRNA. 205 fatty acid alpha-oxidation integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane adenine nucleotide transmembrane transporter activity|protein binding central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1) 8 CAATGATGAACACATCCAAGG 0.448000 23 8 3.86212e-05 4.16778e-05 0.008291 1 0 ZNF735 730291 broad.mit.edu 37 7 63680395 63680395 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:63680395G>A uc011kdn.2 + 3 966 c.966G>A c.(964-966)gaG>gaA p.E322E NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN Homo sapiens zinc finger protein 735 (ZNF735), mRNA. 322 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ATACTGGAGAGAAACCCTACA 0.423000 40 28 0 0 0.010818 0 0 LRP1B 53353 broad.mit.edu 37 2 141260595 141260595 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:141260595C>T uc002tvj.1 - 53 9571 c.8599G>A c.(8599-8601)Gga>Aga p.G2867R NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 2867 LDL-receptor class A 19. 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) TCAAAGTCTCCATCACACTGC 0.398000 TSP Lung(27;0.18) 40 15 0 0 0.002450 0 0 CENPI 2491 broad.mit.edu 37 X 100387214 100387214 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:100387214G>A uc004egx.3 + 12 1593 c.1323G>A c.(1321-1323)aaG>aaA p.K441K CENPI_uc011mrg.2_Silent_p.K441K|CENPI_uc004egy.3_Silent_p.K441K NM_006733 NP_006724 Q92674 CENPI_HUMAN Homo sapiens centromere protein I (CENPI), mRNA. 441 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2) 30 TCCTGTATAAGAGCCTTCCTC 0.398000 25 176 0 0 0.003610 0 0 KDM2B 84678 broad.mit.edu 37 12 121880145 121880145 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:121880145G>A uc001uat.3 - 18 3203 c.3099C>T c.(3097-3099)ccC>ccT p.P1033P KDM2B_uc010szy.2_Silent_p.P473P|KDM2B_uc001uaq.3_Silent_p.P473P|KDM2B_uc001uar.3_Silent_p.P624P|KDM2B_uc001uas.3_Silent_p.P964P|KDM2B_uc021rfd.1_Silent_p.P964P|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Silent_p.P1033P|KDM2B_uc001uao.3_Silent_p.P281P|KDM2B_uc010szx.2_Silent_p.P281P|KDM2B_uc001uap.3_Non-coding_Transcript NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA. 1033 Pro-rich. embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 GGATACACTTGGGCGGGGACA 0.721000 17 3 0 0 0.004672 0 0 CLIC6 54102 broad.mit.edu 37 21 36081686 36081686 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr21:36081686G>A uc010gmt.1 + 5 1803 c.1803G>A c.(1801-1803)agG>agA p.R601R CLIC6_uc002yuf.1_Silent_p.R583R NM_053277 NP_444507 Q96NY7 CLIC6_HUMAN Homo sapiens chloride intracellular channel 6 (CLIC6), nuclear gene encoding mitochondrial protein, mRNA. 601 GST C-terminal. chloride channel complex|cytoplasm|plasma membrane voltage-gated chloride channel activity p.S601T(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 AGGCCCTGAGGAAGCTGGATA 0.453000 44 27 0 0 0.009535 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21036398 21036398 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:21036398G>A uc010sil.2 + 10 1609 c.1544G>A c.(1543-1545)aGa>aAa p.R515K SLCO1B3_uc001rek.3_Missense_Mutation_p.R515K|SLCO1B3_uc001rel.3_Missense_Mutation_p.R515K|SLCO1B3_uc010sim.2_Intron Q9NPD5 SO1B3_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA. 515 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) CTCCAGAACAGAAATTACTCA 0.333000 39 14 0 0 0.006122 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525476 176525476 + Silent SNP C T T rs148899801 TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:176525476C>T uc001gkz.3 + 1 1182 c.18C>T c.(16-18)atC>atT p.I6I PAPPA2_uc001gky.1_Silent_p.I6I|PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 6 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.I6I(2) 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 GCTTAAAGATCCTAAGAATAA 0.517000 139 37 0 0 0.010771 0 0 CENPE 1062 broad.mit.edu 37 4 104080165 104080165 + Splice_Site SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:104080165A>G uc003hxb.1 - 22 2691 c.2601_splice c.e22+1 p.E867_splice CENPE_uc003hxc.1_Splice_Site_p.E842_splice NM_001813 NP_001804 Q02224 CENPE_HUMAN Homo sapiens centromere protein E, 312kDa (CENPE), mRNA. 867 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TCTTGTACCAACCTCGGTCTT 0.398000 32 14 0 0 0.002450 0 0 MYH7 4625 broad.mit.edu 37 14 23894188 23894188 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:23894188C>T uc001wjx.3 - 21 2575 c.2469G>A c.(2467-2469)ggG>ggA p.G823G NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 823 G -> E (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle p.M822I(1) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) AATTCTTGACCCCCATGAAGG 0.547000 48 20 0 0 0.008871 0 0 LILRB3 11025 broad.mit.edu 37 19 54803737 54803737 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:54803737G>A uc002qfd.3 - 2 179 c.87C>T c.(85-87)ccC>ccT p.P29P LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Silent_p.P29P NM_006865 NP_006856 O75022 LIRB3_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA. 29 cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CCCAGAGGGTGGGCTTGGGGA 0.577000 58 33 0 0 0.006999 0 0 HPS1 3257 broad.mit.edu 37 10 100195443 100195443 + Silent SNP G A A rs149759513 TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:100195443G>A uc021pwv.1 - 3 450 c.204C>T c.(202-204)acC>acT p.T68T HPS1_uc009xwb.3_Non-coding_Transcript|HPS1_uc010qph.1_Silent_p.T68T|HPS1_uc001kpl.3_Silent_p.T68T NM_000195 NP_000186 Q92902 HPS1_HUMAN Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA. 68 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) AGCAGGTGTAGGTGTCCGAGA 0.567000 Hermansky-Pudlak syndrome 60 22 0 0 0.010504 0 0 OR5B12 390191 broad.mit.edu 37 11 58206830 58206830 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:58206830G>A uc010rkh.2 - 0 817 c.795C>T c.(793-795)ttC>ttT p.F265F NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA. 265 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) CTGTGCCCATGAAATGGCTGG 0.453000 5 26 0 0 0.005443 0 0 SZT2 23334 broad.mit.edu 37 1 43905671 43905671 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:43905671G>A uc001cjk.2 + 49 7075 c.4465G>A c.(4465-4467)Gag>Aag p.E1489K NM_015284 NP_056099 Q5T011 SZT2_HUMAN Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA. 2388 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TGCCATCATCGAGCTTCAGCT 0.547000 51 32 0 0 0.004878 0 0 CDK3 1018 broad.mit.edu 37 17 73998155 73998155 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:73998155C>T uc002jqg.4 + 5 2083 c.331C>T c.(331-333)Ctc>Ttc p.L111F CDK3_uc010dgt.3_Missense_Mutation_p.L83F NM_001258 NP_001249 Q00526 CDK3_HUMAN Homo sapiens cyclin-dependent kinase 3 (CDK3), mRNA. 83 Protein kinase. cell division|cell proliferation|mitosis ATP binding|cyclin-dependent protein kinase activity central_nervous_system(1) 1 GTTTGAGTTCCTCAGCCAGGA 0.572000 28 36 0 0 0.003755 0 0 RGAG1 57529 broad.mit.edu 37 X 109694656 109694656 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:109694656C>T uc004eor.2 + 2 1057 c.811C>T c.(811-813)Ctg>Ttg p.L271L RGAG1_uc011msr.1_Silent_p.L271L NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA. 271 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 AATATCCTCACTGATAATGTC 0.498000 17 105 0 0 0.003610 0 0 CLN6 54982 broad.mit.edu 37 15 68500587 68500587 + Nonsense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:68500587C>T uc010ujz.2 - 6 1161 c.923G>A c.(922-924)tGg>tAg p.W308* CALML4_uc002arb.3_5'Flank|CALML4_uc002arc.3_5'Flank|CALML4_uc002ard.3_5'Flank|CALML4_uc002are.3_5'Flank|CALML4_uc010bhz.3_5'Flank|CLN6_uc002arf.3_Nonsense_Mutation_p.W276*|CLN6_uc010ujy.2_Nonsense_Mutation_p.W147* NM_017882 NP_060352 Q9NWW5 CLN6_HUMAN Homo sapiens ceroid-lipofuscinosis, neuronal 6, late infantile, variant (CLN6), mRNA. 276 cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane protein homodimerization activity large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 CCAGGCGACCCAGAGCGCCAC 0.602000 66 30 0 0 0.002836 0 0 TMEM132A 54972 broad.mit.edu 37 11 60702137 60702137 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:60702137C>T uc001nqi.3 + 8 1933 c.1740C>T c.(1738-1740)caC>caT p.H580H TMEM132A_uc001nqj.3_Silent_p.H579H NM_017870 NP_060340 Q24JP5 T132A_HUMAN Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA. 579 Golgi membrane|endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 ACGTGTCCCACCTCGTGGCGC 0.731000 3 16 0 0 0.004990 0 0 PCGF3 10336 broad.mit.edu 37 4 737340 737340 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:737340C>T uc011bva.1 + 7 816 c.341C>T c.(340-342)tCt>tTt p.S114F PCGF3_uc003gbd.1_Non-coding_Transcript|PCGF3_uc003gbe.3_Missense_Mutation_p.S114F|PCGF3_uc010ibh.3_Missense_Mutation_p.S114F|PCGF3_uc003gbh.3_Missense_Mutation_p.S80F NM_006315 NP_006306 Q3KNV8 PCGF3_HUMAN Homo sapiens polycomb group ring finger 3 (PCGF3), mRNA. 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent PcG protein complex zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(1) 7 GAGACCTGCTCTGCAAAACAG 0.532000 29 10 0 0 0.001368 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19715949 19715949 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr21:19715949G>A uc002ykw.3 - 11 1333 c.1302C>T c.(1300-1302)gtC>gtT p.V434V NM_002772 NP_002763 P98073 ENTK_HUMAN Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA. 434 MAM. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 TTAATTTATGGACATTTTCAC 0.313000 51 28 0 0 0.010818 0 0 GRM5 2915 broad.mit.edu 37 11 88301112 88301112 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:88301112G>A uc001pcq.3 - 6 1939 c.1739C>T c.(1738-1740)cCc>cTc p.P580L GRM5_uc009yvm.3_Missense_Mutation_p.P580L NM_001143831 NP_001137303 P41594 GRM5_HUMAN Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA. 580 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) AGCTGCAATGGGTTCAGGGTC 0.488000 6 23 0 0 0.012319 0 0 SENP3 26168 broad.mit.edu 37 17 7466977 7466977 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:7466977C>T uc002ghm.3 + 1 867 c.584C>T c.(583-585)cCc>cTc p.P195L EIF4A1_uc002gho.2_5'UTR|SENP3_uc002ghn.1_5'Flank NM_015670 NP_056485 Q9H4L4 SENP3_HUMAN Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 3 (SENP3), mRNA. 195 Poly-Pro. proteolysis MLL1 complex|nucleolus cysteine-type peptidase activity central_nervous_system(1)|ovary(1) 2 Prostate(122;0.157) CCACCTCCACCCCGGCTGGGT 0.652000 15 13 0 0 0.001368 0 0 USP6 9098 broad.mit.edu 37 17 5064879 5064879 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:5064879G>A uc002gau.1 + 31 5115 c.2885G>A c.(2884-2886)gGg>gAg p.G962E USP6_uc002gav.1_Missense_Mutation_p.G962E|USP6_uc010ckz.1_Missense_Mutation_p.G645E NM_004505 NP_004496 P35125 UBP6_HUMAN Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA. 962 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CAGAAAGATGGGAACTCCTGT 0.368000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 43 27 0 0 0.003271 0 0 MARK1 4139 broad.mit.edu 37 1 220805608 220805608 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:220805608G>A uc009xdw.3 + 10 1672 c.1075G>A c.(1075-1077)Gat>Aat p.D359N MARK1_uc001hmn.4_Missense_Mutation_p.D359N|MARK1_uc010pun.2_Missense_Mutation_p.D359N|MARK1_uc001hmm.4_Missense_Mutation_p.D337N NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA. 359 UBA. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) TCAGAAGTATGATGAAGTTAT 0.303000 291 72 0 0 0.003610 0 0 NCOA3 8202 broad.mit.edu 37 20 46280002 46280002 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:46280002C>T uc002xtk.3 + 19 4189 c.3928C>T c.(3928-3930)Cca>Tca p.P1310S NCOA3_uc002xtl.3_Missense_Mutation_p.P1306S|NCOA3_uc002xtn.3_Missense_Mutation_p.P1309S|NCOA3_uc010ght.2_Missense_Mutation_p.P1301S|NCOA3_uc002xtm.3_Missense_Mutation_p.P1305S|NCOA3_uc010zyc.2_Missense_Mutation_p.P1105S NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA. 1310 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GCAACAGTTTCCATATCAACC 0.448000 31 13 0 0 0.003163 0 0 RNF43 54894 broad.mit.edu 37 17 56432331 56432331 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:56432331G>A uc002iwf.3 - 8 4281 c.2325C>T c.(2323-2325)ctC>ctT p.L775L RNF43_uc010wnv.2_Silent_p.L734L|RNF43_uc002iwh.4_Silent_p.L775L|RNF43_uc002iwg.4_Silent_p.L775L|SUPT4H1_uc002iwe.1_5'Flank NM_017763 NP_060233 Q68DV7 RNF43_HUMAN Homo sapiens ring finger protein 43 (RNF43), mRNA. 775 endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) ACAGCTCCTCGAGTTCCTCCT 0.572000 44 21 0 0 0.003330 0 0 MUC16 94025 broad.mit.edu 37 19 9003603 9003603 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:9003603C>T uc002mkp.3 - 48 40241 c.40037G>A c.(40036-40038)aGg>aAg p.R13346K MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.R163K|MUC16_uc021uog.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13348 SEA 9. 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 GTTGAACTTCCTGGAGCCAGG 0.557000 113 58 0 0 0.003610 0 0 TAPBPL 55080 broad.mit.edu 37 12 6566747 6566747 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:6566747G>A uc001qog.4 + 3 979 c.741G>A c.(739-741)caG>caA p.Q247Q TAPBPL_uc001qoi.1_Intron NM_018009 NP_060479 Q9BX59 TPSNR_HUMAN Homo sapiens TAP binding protein-like (TAPBPL), mRNA. 247 Ig-like V-type. antigen processing and presentation of endogenous peptide antigen via MHC class I endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 6 GGCAGGGGCAGGCTGTGCGGA 0.657000 31 10 0 0 0.006214 0 0 DENND5B 160518 broad.mit.edu 37 12 31586121 31586121 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:31586121C>T uc001rkh.1 - 9 2330 c.2179G>A c.(2179-2181)Gag>Aag p.E727K DENND5B_uc001rki.1_Missense_Mutation_p.E692K|DENND5B_uc001rkj.3_Missense_Mutation_p.E714K NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA. 692 integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CCAACATGCTCAGAATGCTGG 0.502000 105 38 0 0 0.006999 0 0 CDKN2C 1031 broad.mit.edu 37 1 51439938 51439938 + Missense_Mutation SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:51439938A>G uc001csf.3 + 2 2478 c.503A>G c.(502-504)cAa>cGa p.Q168R CDKN2C_uc001csg.3_Missense_Mutation_p.Q168R NM_001262 NP_523240 P42773 CDN2C_HUMAN Homo sapiens cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) (CDKN2C), transcript variant 1, mRNA. 168 G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding p.0?(11)|p.?(1) central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1) 23 GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151) ACAAATCTTCAATAAACGTGG 0.488000 D """glioma, MM""" 31 17 0 0 0.006122 0 0 THEMIS 387357 broad.mit.edu 37 6 128134289 128134289 + Silent SNP C A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:128134289C>A uc011ebt.2 - 3 1646 c.1497G>T c.(1495-1497)acG>acT p.T499T THEMIS_uc010kfa.3_Silent_p.T402T|THEMIS_uc021zfa.1_Silent_p.T499T|THEMIS_uc010kfb.3_Silent_p.T464T NM_001164685 NP_001158157 Q8N1K5 THMS1_HUMAN Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA. 499 CABIT 2. T cell receptor signaling pathway|negative T cell selection|positive T cell selection cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 CCCAGCACTCCGTGGGGTTGG 0.478000 13 17 5.01169e-05 5.40433e-05 0.004990 1 0 ROR1 4919 broad.mit.edu 37 1 64515362 64515362 + Splice_Site SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:64515362G>A uc001dbj.2 + 3 563 c.164_splice c.e3-1 p.D55_splice ROR1_uc001dbi.4_Splice_Site_p.D55_splice NM_005012 NP_005003 Q01973 ROR1_HUMAN Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA. 55 Ig-like C2-type. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 TGTGCTCACAGATTCTTACCT 0.552000 56 36 0 0 0.006230 0 0 EAF2 55840 broad.mit.edu 37 3 121554156 121554156 + Silent SNP A T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:121554156A>T uc003een.3 + 0 123 c.24A>T c.(22-24)tcA>tcT p.S8S IQCB1_uc010hrf.1_5'Flank|IQCB1_uc010hre.1_5'Flank|IQCB1_uc003eek.2_5'Flank|EAF2_uc003eem.3_Non-coding_Transcript|EAF2_uc003eeo.3_5'UTR NM_018456 NP_060926 Q96CJ1 EAF2_HUMAN Homo sapiens ELL associated factor 2 (EAF2), mRNA. 8 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1) 9 GBM - Glioblastoma multiforme(114;0.0972) CGGGATTCTCACACCTAGACC 0.567000 21 13 0 0 0.001855 0 0 TRIML1 339976 broad.mit.edu 37 4 189065010 189065010 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:189065010G>A uc003izm.1 + 3 869 c.754G>A c.(754-756)Gaa>Aaa p.E252K TRIML1_uc003izn.1_5'UTR NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA. 252 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) AGGAGCCCTGGAAAGGTAGGC 0.488000 106 57 0 0 0.003610 0 0 ATP8B3 148229 broad.mit.edu 37 19 1784935 1784935 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:1784935G>A uc002ltw.3 - 27 3777 c.3543C>T c.(3541-3543)ctC>ctT p.L1181L ATP8B3_uc002ltv.3_Silent_p.L1144L|ATP8B3_uc002ltx.3_Non-coding_Transcript NM_138813 NP_620168 O60423 AT8B3_HUMAN Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA. 1181 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACATCACGCTGAGGTCGGCAT 0.632000 14 11 0 0 0.001368 0 0 OR4D2 124538 broad.mit.edu 37 17 56247888 56247888 + Missense_Mutation SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:56247888A>G uc010wnp.2 + 0 872 c.872A>G c.(871-873)aAc>aGc p.N291S NM_001004707 NP_001004707 P58180 OR4D2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA. 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 ACCCTGAGGAACCAGGACATG 0.517000 134 39 0 0 0.005524 0 0 TCOF1 6949 broad.mit.edu 37 5 149755307 149755307 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:149755307C>T uc003lry.3 + 11 1836 c.1728C>T c.(1726-1728)ctC>ctT p.L576L TCOF1_uc003lrw.3_Silent_p.L576L|TCOF1_uc003lrz.3_Silent_p.L576L|TCOF1_uc011dch.2_Silent_p.L576L|TCOF1_uc003lrx.3_Silent_p.L499L|TCOF1_uc003lsa.3_Silent_p.L499L|TCOF1_uc011dci.1_Silent_p.L65L NM_001135243 NP_001128715 Q13428 TCOF_HUMAN Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA. 576 skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGAACATCCTCCAGGCCAAAC 0.562000 98 58 0 0 0.003610 0 0 DYRK3 8444 broad.mit.edu 37 1 206821165 206821165 + Nonsense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:206821165C>T uc001hej.3 + 2 790 c.622C>T c.(622-624)Cga>Tga p.R208* DYRK3_uc001hek.3_Intron|DYRK3_uc001hei.3_Nonsense_Mutation_p.R188* NM_003582 NP_003573 O43781 DYRK3_HUMAN Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 (DYRK3), transcript variant 1, mRNA. 208 erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2) 25 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) TCTAGCTTATCGATATGAGGT 0.468000 76 29 0 0 0.006320 0 0 ATG2A 23130 broad.mit.edu 37 11 64669618 64669618 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:64669618G>A uc001obx.3 - 28 4050 c.3935C>T c.(3934-3936)tCc>tTc p.S1312F ATG2A_uc001obw.3_Missense_Mutation_p.S77F NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA. 1312 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 TAGGTAGACGGAGATGGGCGA 0.637000 15 47 0 0 0.013114 0 0 MVP 9961 broad.mit.edu 37 16 29853079 29853079 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:29853079C>T uc002dui.3 + 8 1506 c.1354C>T c.(1354-1356)Cgg>Tgg p.R452W BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.2_Non-coding_Transcript|MVP_uc002duj.3_Missense_Mutation_p.R452W|MVP_uc010vea.2_Missense_Mutation_p.R46W NM_005115 NP_059447 Q14764 MVP_HUMAN Homo sapiens major vault protein (MVP), transcript variant 2, mRNA. 452 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1) 27 CTTGGCGCCCCGGAACAAGAC 0.662000 10 10 0 0 0.008291 0 0 GEMIN5 25929 broad.mit.edu 37 5 154282156 154282156 + Nonsense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:154282156G>A uc003lvx.3 - 19 2892 c.2809C>T c.(2809-2811)Cag>Tag p.Q937* GEMIN5_uc011ddk.1_Nonsense_Mutation_p.Q936* NM_015465 NP_056280 Q8TEQ6 GEMI5_HUMAN Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA. 937 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GCTGCAGTCTGGAGAACACCT 0.428000 49 30 0 0 0.010818 0 0 EBF3 253738 broad.mit.edu 37 10 131755553 131755553 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:131755553C>T uc021qav.1 - 5 582 c.481G>A c.(481-483)Gaa>Aaa p.E161K EBF3_uc001lki.2_Missense_Mutation_p.E175K NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN Homo sapiens early B-cell factor 3 (EBF3), mRNA. 175 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GAGGGCGTTTCGTTTCTATTG 0.418000 50 28 0 0 0.002836 0 0 GRID2 2895 broad.mit.edu 37 4 94376916 94376916 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:94376916G>A uc011cdt.2 + 10 1907 c.1649G>A c.(1648-1650)cGa>cAa p.R550Q GRID2_uc011cdu.2_Missense_Mutation_p.R455Q NM_001510 NP_001501 O43424 GRID2_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA. 550 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.R550Q(2) NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GTACTACTTCGAAGGGCTGAA 0.483000 64 30 0 0 0.009535 0 0 PTPN18 26469 broad.mit.edu 37 2 131127711 131127711 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:131127711G>A uc002trc.3 + 7 738 c.637G>A c.(637-639)Gaa>Aaa p.E213K PTPN18_uc002trb.3_Missense_Mutation_p.E106K|PTPN18_uc002tre.3_5'Flank NM_014369 NP_055184 Q99952 PTN18_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA. 213 Tyrosine-protein phosphatase. cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) CATGGTGGAGGAAGCCCGTCG 0.597000 96 47 0 0 0.003610 0 0 TSPAN14 81619 broad.mit.edu 37 10 82271930 82271930 + Missense_Mutation SNP G T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:82271930G>T uc001kcj.4 + 5 588 c.481G>T c.(481-483)Gac>Tac p.D161Y TSPAN14_uc009xss.3_Missense_Mutation_p.D38Y|TSPAN14_uc001kci.4_Missense_Mutation_p.D144Y NM_030927 NP_112189 Q8NG11 TSN14_HUMAN Homo sapiens tetraspanin 14 (TSPAN14), transcript variant 1, mRNA. 161 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 Colorectal(32;0.229) TGGCCCTGAAGACTGGGACCT 0.592000 44 28 9.80776e-20 1.0751e-19 0.006320 1 0 ARPP21 10777 broad.mit.edu 37 3 35770831 35770831 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:35770831C>T uc011axy.2 + 12 1372 c.1160C>T c.(1159-1161)tCg>tTg p.S387L ARPP21_uc003cga.3_Missense_Mutation_p.S367L|ARPP21_uc003cgb.3_Missense_Mutation_p.S421L|ARPP21_uc003cgf.3_Missense_Mutation_p.S222L|ARPP21_uc003cgg.3_5'UTR NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA. 421 Ser-rich. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 TCCTCAGGATCGCTGTCCCGC 0.537000 54 30 0 0 0.004289 0 0 SLC6A16 28968 broad.mit.edu 37 19 49812645 49812645 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:49812645G>A uc002pmz.3 - 5 1134 c.900C>T c.(898-900)ctC>ctT p.L300L SLC6A16_uc002pna.3_Silent_p.L300L|MIR4324_uc021uxj.1_5'Flank NM_014037 NP_054756 Q9GZN6 S6A16_HUMAN Homo sapiens solute carrier family 6, member 16 (SLC6A16), mRNA. 300 integral to membrane|intracellular neurotransmitter:sodium symporter activity NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) TGAAACAGGGGAGCAGTACCA 0.468000 20 14 0 0 0.003163 0 0 STAT6 6778 broad.mit.edu 37 12 57493858 57493858 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:57493858G>A uc009zpg.3 - 13 1677 c.1675C>T c.(1675-1677)Cgt>Tgt p.R559C STAT6_uc009zpe.3_Missense_Mutation_p.R510C|STAT6_uc001sna.3_Missense_Mutation_p.R510C|STAT6_uc009zpf.3_Missense_Mutation_p.R510C|STAT6_uc010srb.2_Missense_Mutation_p.R400C|STAT6_uc010src.2_Missense_Mutation_p.R400C|STAT6_uc010srd.2_Missense_Mutation_p.R400C NM_001178081 NP_001171552 P42226 STAT6_HUMAN Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA. 510 SH2. regulation of transcription from RNA polymerase II promoter cytosol|nucleus DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 28 GTGAAGCCACGGCCCAGCAGG 0.622000 5 7 0 0 0.003080 0 0 CYP17A1 1586 broad.mit.edu 37 10 104597062 104597062 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:104597062C>T uc001kwg.3 - 0 229 c.57G>A c.(55-57)aaG>aaA p.K19K NM_000102 NP_000093 P05093 CP17A_HUMAN Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA. 19 androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) NADH(DB00157)|Progesterone(DB00396) GGCACCTTCTCTTGGGCCAAA 0.582000 51 32 0 0 0.010818 0 0 TTN 7273 broad.mit.edu 37 2 179424178 179424178 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:179424178G>A uc021vsy.1 - 274 79202 c.78977C>T c.(78976-78978)tCt>tTt p.S26326F MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S20021F|TTN_uc021vta.1_Missense_Mutation_p.S19954F|TTN_uc021vtb.1_Missense_Mutation_p.S19829F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 27253 Ig-like 127. 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) GTTGGTCACAGAGACCCATGC 0.438000 78 34 0 0 0.003271 0 0 TAF5L 27097 broad.mit.edu 37 1 229730347 229730347 + Silent SNP G A A rs145011648 byFrequency TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:229730347G>A uc001htq.3 - 4 1633 c.1467C>T c.(1465-1467)gaC>gaT p.D489D NM_014409 NP_055224 O75529 TAF5L_HUMAN Homo sapiens TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF5L), transcript variant 1, mRNA. 489 histone H3 acetylation|transcription from RNA polymerase II promoter STAGA complex|transcription factor TFTC complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1) 11 Breast(184;0.193)|Ovarian(103;0.249) Prostate(94;0.167) TCAACCGCTGGTCCTCGCCAG 0.572000 36 85 0 0 0.003610 0 0 RACGAP1P 83956 broad.mit.edu 37 12 45458239 45458239 + RNA SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:45458239G>A uc001rol.3 - 0 c.956C>T Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA. TTTCCACATGGAACATAGAAT 0.463000 5 3 0 0 0.004672 0 0 TP53I13 90313 broad.mit.edu 37 17 27899166 27899166 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:27899166G>A uc002hee.3 + 5 558 c.520G>A c.(520-522)Gct>Act p.A174T NM_138349 NP_612358 Q8NBR0 P5I13_HUMAN Homo sapiens tumor protein p53 inducible protein 13 (TP53I13), mRNA. 174 cytoplasm|integral to membrane|plasma membrane NS(1)|kidney(1)|lung(1)|urinary_tract(1) 4 READ - Rectum adenocarcinoma(3;0.236) TTAGGCCCTGGCTCTGGCCTT 0.647000 25 17 0 0 0.004007 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576568 158576568 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:158576568C>T uc010pio.2 + 0 340 c.340C>T c.(340-342)Ctt>Ttt p.L114F NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA. 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L114L(1) endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) TAACTGCTTCCTTCTGGCTGC 0.557000 109 106 0 0 0.003610 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42434869 42434869 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:42434869G>A uc001zoz.3 - 18 2278 c.2186C>T c.(2185-2187)cCc>cTc p.P729L PLA2G4F_uc010bcq.3_Missense_Mutation_p.P26L|PLA2G4F_uc001zoy.3_Missense_Mutation_p.P361L|PLA2G4F_uc001zpa.3_Missense_Mutation_p.P480L|PLA2G4F_uc010bcr.3_Missense_Mutation_p.P480L|PLA2G4F_uc010bcs.3_Missense_Mutation_p.P516L NM_213600 NP_998765 Q68DD2 PA24F_HUMAN Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA. 729 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GCTAGGGAAGGGGATTCCTCG 0.617000 32 20 0 0 0.012319 0 0 ITGAM 3684 broad.mit.edu 37 16 31282368 31282368 + Nonsense_Mutation SNP C A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:31282368C>A uc002ebr.3 + 5 619 c.521C>A c.(520-522)tCa>tAa p.S174* ITGAM_uc002ebq.3_Nonsense_Mutation_p.S174* NM_001145808 NP_001139280 P11215 ITAM_HUMAN Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA. 174 VWFA. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 GAGTTTGTCTCAACTGTGATG 0.517000 82 57 3.88204e-17 4.2458e-17 0.003610 1 0 DSCAML1 57453 broad.mit.edu 37 11 117342748 117342748 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:117342748G>A uc001prh.1 - 14 2971 c.2969C>T c.(2968-2970)tCc>tTc p.S990F NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA. 930 Fibronectin type-III 2. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GAAGTCCCAGGAATCTGGAGA 0.527000 10 36 0 0 0.003755 0 0 SLC9A4 389015 broad.mit.edu 37 2 103141589 103141589 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:103141589G>A uc002tbz.4 + 9 2382 c.1925G>A c.(1924-1926)gGt>gAt p.G642D NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA. 642 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 ATGAGGAAAGGTCACAGCCTG 0.517000 74 40 0 0 0.008740 0 0 LRP1B 53353 broad.mit.edu 37 2 141707969 141707969 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:141707969C>T uc002tvj.1 - 19 3943 c.2971G>A c.(2971-2973)Gac>Aac p.D991N LRP1B_uc010fnl.1_Missense_Mutation_p.D173N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 991 LDL-receptor class A 6. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.D991D(1) 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) CCACAGTCGTCATCTGGAAAG 0.433000 TSP Lung(27;0.18) 30 18 0 0 0.002780 0 0 TRPC3 7222 broad.mit.edu 37 4 122831542 122831542 + Splice_Site SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:122831542C>T uc003ieg.2 - 6 1633 c.1559_splice c.e6-1 p.G520_splice TRPC3_uc010inr.2_Splice_Site_p.G392_splice|TRPC3_uc003ief.2_Splice_Site_p.G447_splice|TRPC3_uc011cgl.1_Splice_Site_p.G184_splice NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA. 435 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CCACATCATTCCTGTCACAAC 0.468000 34 16 0 0 0.006122 0 0 AGTR1 185 broad.mit.edu 37 3 148459575 148459575 + Missense_Mutation SNP T A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:148459575T>A uc003ewg.3 + 3 1199 c.753T>A c.(751-753)ttT>ttA p.F251L AGTR1_uc003ewh.3_Missense_Mutation_p.F251L|AGTR1_uc003ewi.3_Missense_Mutation_p.F251L|AGTR1_uc003ewj.3_Missense_Mutation_p.F251L|AGTR1_uc003ewk.3_Missense_Mutation_p.F251L|AGTR1_uc021xfj.1_Missense_Mutation_p.F251L NM_031850 NP_114438 P30556 AGTR1_HUMAN Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA. 251 Rho protein signal transduction|calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of NAD(P)H oxidase activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) TCTTTTTCTTTTCCTGGATTC 0.363000 33 25 0 0 0.003330 0 0 CCND1 595 broad.mit.edu 37 11 69456187 69456187 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:69456187G>A uc001opa.3 + 0 315 c.106G>A c.(106-108)Gag>Aag p.E36K NM_053056 NP_444284 P24385 CCND1_HUMAN Homo sapiens cyclin D1 (CCND1), mRNA. 36 Cyclin N-terminal. G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to UV-A|response to drug cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm protein kinase binding NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1) 23 all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) Arsenic trioxide(DB01169) GAAGGCGGAGGAGACCTGCGC 0.647000 T """IGH@, FSTL3""" """CLL, B-ALL, breast""" Multiple Myeloma(6;0.086) 23 59 0 0 0.003610 0 0 AADAC 13 broad.mit.edu 37 3 151535366 151535366 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:151535366G>A uc003eze.3 + 1 441 c.351G>A c.(349-351)gtG>gtA p.V117V MIR548H2_uc021xgb.1_Intron NM_001086 NP_001077 P22760 AAAD_HUMAN Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA. 117 positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2) 19 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) GCTGGTGCGTGGGAAGTGCTG 0.443000 39 17 0 0 0.007413 0 0 INTS9 55756 broad.mit.edu 37 8 28671062 28671062 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:28671062C>T uc003xha.3 - 6 855 c.556G>A c.(556-558)Gag>Aag p.E186K INTS9_uc011lav.2_Missense_Mutation_p.E162K|INTS9_uc011law.2_Missense_Mutation_p.E165K|INTS9_uc011lax.2_Missense_Mutation_p.E79K|INTS9_uc010lvc.3_Non-coding_Transcript NM_018250 NP_001166033 Q9NV88 INT9_HUMAN Homo sapiens integrator complex subunit 9 (INTS9), transcript variant 1, mRNA. 186 snRNA processing integrator complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2) 19 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) GAGTTCACCTCTTGCATTGTA 0.413000 24 63 0 0 0.003610 0 0 PCSK2 5126 broad.mit.edu 37 20 17434573 17434574 + Missense_Mutation DNP GG AA AA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:17434573_17434574GG>AA uc002wpm.3 + 8 1426_1427 c.1072_1073GG>AA c.(1072-1074)ggg>AAg p.G358K PCSK2_uc002wpl.3_Missense_Mutation_p.G339K|PCSK2_uc010zrm.2_Missense_Mutation_p.G323K NM_002594 NP_001188457 P16519 NEC2_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA. 358 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTTCAGCAACGGGAGGAAAAGG 0.594000 25 16 0 0 0.004672 0 0 abParts 0 broad.mit.edu 37 14 107048691 107048691 + RNA SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:107048691G>A uc021ser.1 - 169 c.7339C>T Parts of antibodies, mostly variable regions. GTAATACACGGCCGTGTCCTC 0.562000 108 85 0 0 0.003610 0 0 SLC46A3 283537 broad.mit.edu 37 13 29287443 29287443 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr13:29287443G>A uc001usj.3 - 2 976 c.434C>T c.(433-435)aCc>aTc p.T145I SLC46A3_uc001usg.3_Missense_Mutation_p.T70I|SLC46A3_uc001usi.3_Missense_Mutation_p.T145I|SLC46A3_uc001ush.3_Missense_Mutation_p.T145I|SLC46A3_uc001usk.3_Missense_Mutation_p.T70I NM_001135919 NP_001129391 Q7Z3Q1 S46A3_HUMAN Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA. 145 transmembrane transport integral to membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1) 15 Lung SC(185;0.0367) all cancers(112;0.159) CCAAAATGTGGTATAATTGCC 0.383000 15 12 0 0 0.003163 0 0 KIR2DL2 3803 broad.mit.edu 37 GL000209.1 120530 120530 + Missense_Mutation SNP C G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrGL000209.1:120530C>G uc010yie.2 + 3 493 c.482C>G c.(481-483)tCc>tGc p.S161C KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Missense_Mutation_p.S158C|KIR2DL2_uc002qum.3_Missense_Mutation_p.S161C NM_014512 NP_055327 P43627 KI2L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA. 161 Ig-like C2-type 2. regulation of immune response integral to membrane|plasma membrane receptor activity TACCATCTATCCAGGGAAGGG 0.602000 35 50 0 0 0.003610 0 0 ZNF761 388561 broad.mit.edu 37 19 53952800 53952800 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:53952800C>T uc010eqp.3 + 4 509 c.51C>T c.(49-51)ttC>ttT p.F17F ZNF761_uc002qbr.2_Non-coding_Transcript|ZNF761_uc010ydy.2_5'UTR|ZNF761_uc002qbt.2_5'Flank NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN Homo sapiens zinc finger protein 761 (ZNF761), mRNA. 17 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) CCATAGAATTCTCTCAGGAGG 0.448000 58 30 0 0 0.009718 0 0 BIK 638 broad.mit.edu 37 22 43524620 43524620 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:43524620C>T uc003bdk.3 + 3 442 c.379C>T c.(379-381)Ccc>Tcc p.P127S NM_001197 NP_001188 Q13323 BIK_HUMAN Homo sapiens BCL2-interacting killer (apoptosis-inducing) (BIK), mRNA. 127 apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria endomembrane system|integral to membrane breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1) 5 Ovarian(80;0.0694) ATCCCCGAACCCCGGGTCCTG 0.577000 49 33 0 0 0.004289 0 0 CELSR3 1951 broad.mit.edu 37 3 48679376 48679377 + Missense_Mutation DNP GA AC AC TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:48679376_48679377GA>AC uc003cuf.1 - 33 9025_9026 c.9025_9026TC>GT c.(9025-9027)tca>GTa p.S3009V CELSR3_uc010hkf.3_Missense_Mutation_p.S201V|CELSR3_uc010hkg.3_Missense_Mutation_p.S894V|CELSR3_uc003cul.3_Missense_Mutation_p.S2911V NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA. 2911 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CTCGCTTTCTGAAGATGGAATG 0.599000 20 9 0 0 0.004672 0 0 PIGU 128869 broad.mit.edu 37 20 33169475 33169475 + Splice_Site SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:33169475C>T uc002xas.3 - 10 1127 c.927_splice c.e10-1 p.K309_splice PIGU_uc010zul.2_Splice_Site_p.K309_splice|PIGU_uc002xat.3_Splice_Site_p.K289_splice NM_080476 NP_536724 Q9H490 PIGU_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class U (PIGU), mRNA. 309 C-terminal protein lipidation|attachment of GPI anchor to protein|regulation of JAK-STAT cascade GPI-anchor transamidase complex|plasma membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 9 ATGGGGTGCTCCCTGGGGCAG 0.542000 18 6 0 0 0.001984 0 0 OR2T34 127068 broad.mit.edu 37 1 248737509 248737510 + Missense_Mutation DNP AG CA CA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:248737509_248737510AG>CA uc001iep.1 - 0 549_550 c.549_550CT>TG c.(547-552)ttctgt>ttTGgt p.C184G NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA. 184 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F183S(1) breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 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) GGAGTCTCACAGAAAAAACTCA 0.510000 169 83 0 0 0.004672 0 0 AEBP1 165 broad.mit.edu 37 7 44152207 44152207 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:44152207C>T uc003tkb.3 + 17 2573 c.2268C>T c.(2266-2268)ttC>ttT p.F756F AEBP1_uc003tkc.4_Silent_p.F331F|AEBP1_uc003tkd.3_Silent_p.F6F NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN Homo sapiens AE binding protein 1 (AEBP1), mRNA. 756 Interaction with PTEN (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 AGAACCCCTTCGTGCTGGGAG 0.642000 57 27 0 0 0.009535 0 0 PCDHB2 56133 broad.mit.edu 37 5 140474984 140474984 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:140474984C>T uc003lil.3 + 0 748 c.610C>T c.(610-612)Cgc>Tgc p.R204C PCDHB2_uc003lim.1_5'UTR NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN Homo sapiens protocadherin beta 2 (PCDHB2), mRNA. 204 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCCCTGGATCGCGAGGAGCA 0.507000 16 12 0 0 0.010729 0 0 RSPO3 84870 broad.mit.edu 37 6 127517111 127517111 + Nonsense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:127517111C>T uc003qas.1 + 4 1068 c.778C>T c.(778-780)Caa>Taa p.Q260* RSPO3_uc003qar.3_Nonsense_Mutation_p.Q260* NM_032784 NP_116173 Q9BXY4 RSPO3_HUMAN Homo sapiens R-spondin 3 (RSPO3), mRNA. 260 extracellular region heparin binding PTPRK/RSPO3(10) breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 GBM - Glioblastoma multiforme(226;0.0555) GCGAAAAGTCCAAGATAAACA 0.428000 15 21 0 0 0.002299 0 0 TAS2R9 50835 broad.mit.edu 37 12 10962106 10962106 + Missense_Mutation SNP G A A rs115762530 by1000genomes TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:10962106G>A uc001qyx.3 - 0 662 c.569C>T c.(568-570)cCc>cTc p.P190L TAS2R8_uc010shh.2_5'Flank NM_023917 NP_076406 Q9NYW1 TA2R9_HUMAN Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA. 190 sensory perception of taste integral to membrane taste receptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 AAGGATAAAGGGAACCATCAC 0.413000 36 15 0 0 0.004990 0 0 ALK 238 broad.mit.edu 37 2 29451860 29451861 + Missense_Mutation DNP CC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:29451860_29451861CC>TT uc002rmy.3 - 15 3656_3657 c.2704_2705GG>AA c.(2704-2706)gga>AAa p.G902K NM_004304 NP_004295 Q9UM73 ALK_HUMAN Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA. 902 Gly-rich. 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) GGAATGTCCTCCGGTGGCACCC 0.619000 """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 18 4 0 0 0.004672 0 0 CNTN1 1272 broad.mit.edu 37 12 41422941 41422941 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:41422941C>T uc001rmm.1 + 22 3013 c.2900C>T c.(2899-2901)cCc>cTc p.P967L CNTN1_uc001rmn.1_Missense_Mutation_p.P956L NM_001843 NP_001834 Q12860 CNTN1_HUMAN Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA. 967 Fibronectin type-III 4. Notch signaling pathway|axon guidance|cell adhesion anchored to membrane|membrane fraction|plasma membrane p.P967R(2) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GTCCCAATCCCCAGAGATGGA 0.443000 54 40 0 0 0.008740 0 0 ASXL3 80816 broad.mit.edu 37 18 31319168 31319168 + Silent SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr18:31319168A>G uc010dmg.1 + 10 1855 c.1800A>G c.(1798-1800)gaA>gaG p.E600E ASXL3_uc002kxq.2_Silent_p.E307E NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 600 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ACCCTGAAGAACAGCTTTCAG 0.478000 14 6 0 0 0.001168 0 0 MUC7 4589 broad.mit.edu 37 4 71347158 71347158 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:71347158G>A uc011cat.2 + 3 985 c.697G>A c.(697-699)Gag>Aag p.E233K MUC7_uc011cau.2_Missense_Mutation_p.E233K|MUC7_uc003hfj.3_Missense_Mutation_p.E233K NM_001145006 NP_689504 Q8TAX7 MUC7_HUMAN Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA. 233 Thr-rich. extracellular region protein binding p.E233*(2)|p.P232Q(1) 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) AGCTCCACCAGAGACCACAGC 0.592000 101 43 0 0 0.009718 0 0 TARS2 80222 broad.mit.edu 37 1 150469286 150469286 + Splice_Site SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:150469286G>A uc001euq.3 + 9 929 c.922_splice c.e9-1 p.E308_splice TARS2_uc010pcd.1_Splice_Site|TARS2_uc001eur.3_Intron|TARS2_uc009wlt.3_Intron|TARS2_uc009wls.3_Intron NM_025150 NP_079426 Q9BW92 SYTM_HUMAN Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA. 308 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) CTGACCCCAGGAACAGGAGCT 0.522000 56 49 0 0 0.003610 0 0 COL22A1 169044 broad.mit.edu 37 8 139606359 139606359 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:139606359C>T uc003yvd.3 - 62 4963 c.4516G>A c.(4516-4518)Gga>Aga p.G1506R COL22A1_uc011ljo.2_Missense_Mutation_p.G786R NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 1506 Collagen-like 15.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCATCTTTTCCAGGGGGCCCT 0.647000 HNSCC(7;0.00092) 17 33 0 0 0.004878 0 0 TPRG1 285386 broad.mit.edu 37 3 188956652 188956652 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:188956652C>T uc003frv.2 + 8 1660 c.433C>T c.(433-435)Cgc>Tgc p.R145C TPRG1_uc003frw.2_Missense_Mutation_p.R145C NM_198485 NP_940887 Q6ZUI0 TPRG1_HUMAN Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA. 145 p.R145C(2) endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1) 16 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) CGCTGTCTATCGCATCTGCCT 0.498000 48 38 0 0 0.006999 0 0 MSH2 4436 broad.mit.edu 37 2 47710061 47710061 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:47710061C>T uc002rvy.1 + 15 2846 c.2778C>T c.(2776-2778)atC>atT p.I926I MSH2_uc010yoh.1_Silent_p.I860I|MSH2_uc002rvz.3_Intron|MSH2_uc010fbg.2_Silent_p.I736I NM_000251 NP_000242 P43246 MSH2_HUMAN Homo sapiens mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2), mRNA. 926 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding p.0?(2)|p.?(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TAAATGAAATCATTTCACGAA 0.269000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 21 9 0 0 0.008291 0 0 SPAM1 6677 broad.mit.edu 37 7 123595117 123595117 + Missense_Mutation SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:123595117A>G uc003vle.3 + 3 1460 c.1021A>G c.(1021-1023)Acc>Gcc p.T341A SPAM1_uc011koa.1_5'UTR|SPAM1_uc003vld.3_Missense_Mutation_p.T341A|SPAM1_uc022aks.1_Missense_Mutation_p.T341A|SPAM1_uc003vlf.4_Missense_Mutation_p.T341A|SPAM1_uc010lku.3_Missense_Mutation_p.T341A NM_003117 NP_003108 P38567 HYALP_HUMAN Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA. 341 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 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) AATATGGGGAACCCTCAGTAT 0.343000 94 63 0 0 0.003610 0 0 LRRC37B 114659 broad.mit.edu 37 17 30348369 30348370 + Missense_Mutation DNP CC GT GT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:30348369_30348370CC>GT uc002hgu.3 + 0 215_216 c.204_205CC>GT c.(202-207)gccccg>gcGTcg p.P69S LRRC37B_uc010wbx.2_Intron|LRRC37B_uc010csu.3_Missense_Mutation_p.P69S NM_052888 NP_443120 Q96QE4 LR37B_HUMAN Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA. 69 integral to membrane p.P69P(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) CCCCAGCAGCCCCGGGGGACTT 0.599000 77 37 0 0 0.004672 0 0 FLNC 2318 broad.mit.edu 37 7 128487821 128487821 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:128487821G>A uc003vnz.4 + 24 4568 c.4359G>A c.(4357-4359)ctG>ctA p.L1453L FLNC_uc003voa.4_Silent_p.L1453L NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 1453 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding p.G1452W(1) biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GGCCAGGGCTGGGGGCTGGTG 0.657000 67 52 0 0 0.003610 0 0 KIAA1549 57670 broad.mit.edu 37 7 138529099 138529099 + Silent SNP C A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:138529099C>A uc011kql.2 - 17 5464 c.5415G>T c.(5413-5415)ccG>ccT p.P1805P KIAA1549_uc011kqi.2_Silent_p.P589P|KIAA1549_uc011kqk.2_Silent_p.P589P|KIAA1549_uc011kqj.2_Silent_p.P1805P NM_001164665 NP_001158137 Q9HCM3 K1549_HUMAN Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA. 1805 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 GGGCCACCGACGGCATCTCCT 0.577000 O BRAF pilocytic astrocytoma 31 30 8.53417e-09 9.25064e-09 0.002836 1 0 DDX60 55601 broad.mit.edu 37 4 169208310 169208310 + Missense_Mutation SNP A T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:169208310A>T uc003irp.3 - 9 1520 c.1228T>A c.(1228-1230)Tat>Aat p.Y410N NM_017631 NP_060101 Q8IY21 DDX60_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA. 410 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TTCCAGAGATATTCATAATCT 0.353000 43 18 0 0 0.006122 0 0 CPT1B 1375 broad.mit.edu 37 22 51012817 51012817 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:51012817G>A uc003bmm.3 - 8 1016 c.917C>T c.(916-918)tCc>tTc p.S306F CPT1B_uc003bmk.4_Missense_Mutation_p.S306F|CPT1B_uc003bml.3_Missense_Mutation_p.S306F|CPT1B_uc003bmo.3_Missense_Mutation_p.S306F|CPT1B_uc011asa.2_Missense_Mutation_p.S272F|CPT1B_uc003bmn.3_Missense_Mutation_p.S306F|CPT1B_uc011asb.2_Missense_Mutation_p.S306F|CPT1B_uc003bmp.3_Missense_Mutation_p.S103F|CPT1B_uc021wsc.1_Non-coding_Transcript NM_004377 NP_689452 Q92523 CPT1B_HUMAN Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 306 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) CATCTGGTAGGAGCACATAGG 0.607000 22 13 0 0 0.001855 0 0 CSMD2 114784 broad.mit.edu 37 1 34189893 34189893 + Nonsense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:34189893G>A uc001bxm.1 - 18 3082 c.2905C>T c.(2905-2907)Caa>Taa p.Q969* CSMD2_uc001bxn.1_Nonsense_Mutation_p.Q929* NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 929 CUB 6. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CTGGAGCCTTGAATGAAGCCA 0.562000 23 10 0 0 0.008291 0 0 EVPL 2125 broad.mit.edu 37 17 74011352 74011352 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:74011352G>A uc010wss.1 - 15 2278 c.2050C>T c.(2050-2052)Cct>Tct p.P684S EVPL_uc002jqi.2_Missense_Mutation_p.P662S|EVPL_uc010wst.1_Missense_Mutation_p.P132S NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 662 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GGTTCAGCAGGGATGGGGGCC 0.687000 8 3 0 0 0.004672 0 0 POU6F2 11281 broad.mit.edu 37 7 39472825 39472825 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:39472825C>T uc003thb.2 + 7 1319 c.1176C>T c.(1174-1176)atC>atT p.I392I POU6F2_uc022acb.1_Silent_p.I392I NM_007252 NP_009183 P78424 PO6F2_HUMAN Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA. 392 Gln-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 GGAACCAGATCCTGCCCGTGA 0.607000 66 52 0 0 0.003610 0 0 PRRC2A 7916 broad.mit.edu 37 6 31602309 31602309 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:31602309C>T uc003nvb.4 + 19 5159 c.4910C>T c.(4909-4911)cCt>cTt p.P1637L PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.P1637L NM_080686 NP_542417 P48634 PRC2A_HUMAN Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA. 1637 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CCCCTGAGTCCTTTTGAGGAT 0.572000 14 8 0 0 0.003080 0 0 CASZ1 54897 broad.mit.edu 37 1 10708136 10708136 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:10708136G>A uc001aro.3 - 15 3539 c.3219C>T c.(3217-3219)gcC>gcT p.A1073A CASZ1_uc001arp.1_Silent_p.A1073A NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA. 1073 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CGGCGGCCGAGGCCGGAAAGG 0.667000 1 4 0 0 0.001168 0 0 KDR 3791 broad.mit.edu 37 4 55953871 55953871 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:55953871C>T uc003has.3 - 26 3867 c.3565G>A c.(3565-3567)Gat>Aat p.D1189N KDR_uc003hat.1_Missense_Mutation_p.D1189N NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 1189 angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AGTCCAGAATCCTCTTCCATG 0.438000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 25 19 0 0 0.010504 0 0 BNIPL 149428 broad.mit.edu 37 1 151015476 151015476 + Nonsense_Mutation SNP G T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:151015476G>T uc001ewl.2 + 4 651 c.478G>T c.(478-480)Gaa>Taa p.E160* BNIPL_uc009wmi.2_Nonsense_Mutation_p.E78*|BNIPL_uc009wmj.2_Non-coding_Transcript NM_138278 NP_001153114 Q7Z465 BNIPL_HUMAN Homo sapiens BCL2/adenovirus E1B 19kD interacting protein like (BNIPL), transcript variant 1, mRNA. 160 apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate cytosol|nucleus identical protein binding autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1) 10 Lung SC(34;0.00471)|Ovarian(49;0.0167)|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) TGAGACAGCTGAAAGGCTGGG 0.542000 157 45 5.34276e-22 5.86979e-22 0.003610 1 0 TINAGL1 64129 broad.mit.edu 37 1 32050548 32050549 + Nonsense_Mutation DNP CC GT GT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:32050548_32050549CC>GT uc001bta.3 + 6 894_895 c.768_769CC>GT c.(766-771)ccccag>ccGTag p.Q257* TINAGL1_uc010ogj.2_Nonsense_Mutation_p.Q226*|TINAGL1_uc010ogk.1_Nonsense_Mutation_p.Q257*|TINAGL1_uc021oko.1_Nonsense_Mutation_p.Q152* NM_022164 NP_001191344 Q9GZM7 TINAL_HUMAN Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA. 257 endosome transport|immune response|proteolysis extracellular region cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145) TCCTGTCGCCCCAGAACCTGCT 0.634000 61 30 0 0 0.004672 0 0 RPH3A 22895 broad.mit.edu 37 12 113266161 113266162 + Nonsense_Mutation DNP GG AA AA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:113266161_113266162GG>AA uc010syl.2 + 2 400_401 c.38_39GG>AA c.(37-39)tgg>tAA p.W13* RPH3A_uc001ttz.3_Nonsense_Mutation_p.W13*|RPH3A_uc001tty.3_Nonsense_Mutation_p.W13*|RPH3A_uc009zwe.1_Nonsense_Mutation_p.W13*|RPH3A_uc010sym.2_Nonsense_Mutation_p.W13* NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA. 13 intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) TCTAACCGTTGGATGTACCCCA 0.475000 67 42 0 0 0.004672 0 0 TUBA3D 113457 broad.mit.edu 37 2 132240254 132240254 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:132240254G>A uc002tsu.4 + 4 1379 c.1186G>A c.(1186-1188)Gat>Aat p.D396N NM_080386 NP_525125 Q13748 TBA3C_HUMAN Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA. 396 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity p.D396N(2) breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) CCATAAGTTCGATCTCATGTA 0.642000 130 33 0 0 0.002836 0 0 CARD14 79092 broad.mit.edu 37 17 78175584 78175584 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:78175584G>A uc002jxw.1 + 13 2087 c.1893G>A c.(1891-1893)ctG>ctA p.L631L CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Silent_p.L631L|CARD14_uc010wud.1_Intron NM_024110 NP_077015 Q9BXL6 CAR14_HUMAN Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA. 631 PDZ. DYEASEPLFKAVLEDTTLEEAVGLLRRVDGFCCLSVKVNTD GYKRLLQDLEAK -> SRARPLLSPGLLMGTVAAGGVTQAD FTSPRRCRSTLGWASALSWADVKRSAHL (in Ref. 4; AAH01326). activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) AGGCAGTCCTGGAGGACACGA 0.587000 74 22 0 0 0.010504 0 0 KIAA1524 57650 broad.mit.edu 37 3 108295144 108295144 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:108295144C>T uc003dxb.4 - 7 1137 c.868G>A c.(868-870)Gga>Aga p.G290R KIAA1524_uc003dxc.1_Missense_Mutation_p.G131R|KIAA1524_uc010hpw.1_Missense_Mutation_p.G131R NM_020890 NP_065941 Q8TCG1 CIP2A_HUMAN Homo sapiens KIAA1524 (KIAA1524), mRNA. 290 cytoplasm|integral to membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GGATCCTTTCCATTAAGAAGA 0.274000 76 41 0 0 0.003610 0 0 LOC100499466 100499466 broad.mit.edu 37 17 66130697 66130697 + RNA SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:66130697C>T uc002jgq.3 + 5 c.9820C>T Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA. GGAAGAAGCCCGACTGGCCGT 0.622000 5 5 0 0 0.000602 0 0 FAM135A 57579 broad.mit.edu 37 6 71191749 71191749 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:71191749C>T uc003pfj.3 + 7 848 c.715C>T c.(715-717)Cgt>Tgt p.R239C FAM135A_uc003pfi.3_Missense_Mutation_p.R239C|FAM135A_uc003pfh.3_Missense_Mutation_p.R196C|FAM135A_uc003pfk.3_Missense_Mutation_p.R239C|FAM135A_uc003pfl.3_Missense_Mutation_p.R76C|FAM135A_uc003pfm.1_5'UTR NM_001162529 NP_001156001 Q9P2D6 F135A_HUMAN Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA. 239 breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 TCATGCGTATCGTTTTCATTA 0.388000 15 34 0 0 0.004289 0 0 EXOC3 11336 broad.mit.edu 37 5 454110 454111 + Silent DNP CC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:454110_454111CC>TT uc003jba.3 + 3 1118_1119 c.990_991CC>TT c.(988-993)gacctg>gaTTtg p.330_331DL>DL NM_007277 NP_009208 O60645 EXOC3_HUMAN Homo sapiens exocyst complex component 3 (EXOC3), mRNA. 341 exocytosis|protein transport breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1) 23 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CATCGGAAGACCTGGAAGCCAA 0.525000 9 9 0 0 0.004672 0 0 RTP2 344892 broad.mit.edu 37 3 187416463 187416463 + Silent SNP G C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:187416463G>C uc003fro.1 - 1 930 c.501C>G c.(499-501)ccC>ccG p.P167P NM_001004312 NP_001004312 Q5QGT7 RTP2_HUMAN Homo sapiens receptor (chemosensory) transporter protein 2 (RTP2), mRNA. 167 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding large_intestine(3)|lung(14)|skin(1) 18 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) GCTTCTCGCTGGGCTTCCAGT 0.647000 23 13 0 0 0.001855 0 0 ACAA1 30 broad.mit.edu 37 3 38173488 38173488 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:38173488G>A uc003cht.3 - 3 539 c.332C>T c.(331-333)cCg>cTg p.P111L ACAA1_uc003chu.3_Missense_Mutation_p.P111L NM_001607 NP_001598 P09110 THIK_HUMAN Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 111 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy peroxisomal matrix acetyl-CoA C-acyltransferase activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657) CACAGTCTCCGGGATGTCACT 0.527000 OREG0015477 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 28 0 0 0.010818 0 0 DKK2 27123 broad.mit.edu 37 4 107847039 107847039 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:107847039G>A uc003hyi.3 - 1 995 c.290C>T c.(289-291)tCa>tTa p.S97L DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Missense_Mutation_p.S97L NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA. 97 DKK-type Cys-1. Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) GCAGGCCGATGATCCTTGGTG 0.507000 51 35 0 0 0.002836 0 0 YPEL1 29799 broad.mit.edu 37 22 22065004 22065004 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:22065004G>A uc002zvl.3 - 1 362 c.30C>T c.(28-30)ttC>ttT p.F10F YPEL1_uc002zvm.3_Non-coding_Transcript NM_013313 NP_037445 O60688 YPEL1_HUMAN Homo sapiens yippee-like 1 (Drosophila) (YPEL1), mRNA. 10 nucleus breast(1)|large_intestine(1)|lung(1) 3 Colorectal(54;0.105) GATACGCTTGGAAAGTTTTGG 0.532000 119 50 0 0 0.003610 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70712868 70712868 + Nonsense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:70712868G>A uc010ttg.2 - 0 1651 c.1000C>T c.(1000-1002)Caa>Taa p.Q334* Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA. CACCTCTTTTGATAGCAGTAG 0.433000 20 17 0 0 0.010504 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140784331 140784331 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:140784331C>T uc003lkh.2 + 0 1812 c.1812C>T c.(1810-1812)ctC>ctT p.L604L 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_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Silent_p.L604L NM_018921 NP_061744 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA. 605 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) ATGCTTGGCTCTCCTACCGCC 0.617000 50 41 0 0 0.008740 0 0 ANKRD20A2 441430 broad.mit.edu 37 2 95519289 95519289 + RNA SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:95519289C>T uc010fhp.3 - 1 c.218G>A Q5SQ80 A20A2_HUMAN Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA. large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 4 ATACCTGTATCAAAGGCGTTC 0.368000 193 65 0 0 0.003610 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52705059 52705059 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:52705059C>T uc001cto.3 + 3 2142 c.1970C>T c.(1969-1971)tCc>tTc p.S657F ZFYVE9_uc001ctn.3_Missense_Mutation_p.S657F|ZFYVE9_uc001ctp.3_Missense_Mutation_p.S657F NM_004799 NP_004790 O95405 ZFYV9_HUMAN Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA. 657 SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 GCTGAGATCTCCACTAGACCA 0.448000 55 29 0 0 0.007291 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130218338 130218338 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:130218338C>T uc004evz.3 + 4 1050 c.705C>T c.(703-705)atC>atT p.I235I ARHGAP36_uc004ewa.3_Silent_p.I223I|ARHGAP36_uc004ewb.3_Silent_p.I204I|ARHGAP36_uc004ewc.3_Silent_p.I99I NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA. 235 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 CGAAACAAATCCCCCAGGTTG 0.458000 7 33 0 0 0.003271 0 0 PTPN9 5780 broad.mit.edu 37 15 75816585 75816585 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:75816585G>A uc002bal.3 - 2 770 c.262C>T c.(262-264)Cgt>Tgt p.R88C NM_002833 NP_002824 P43378 PTN9_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA. 88 CRAL-TRIO. cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ATCTCAGAACGAAGAGGTTCC 0.388000 44 16 0 0 0.010504 0 0 STRN 6801 broad.mit.edu 37 2 37152297 37152297 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:37152297C>T uc002rpn.3 - 1 298 c.289G>A c.(289-291)Gat>Aat p.D97N STRN_uc010ezx.3_Missense_Mutation_p.D97N NM_003162 NP_003153 O43815 STRN_HUMAN Homo sapiens striatin, calmodulin binding protein (STRN), mRNA. 97 Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) CTCACAAGATCCTTCTTCAAA 0.373000 115 5 0 0 0.001984 0 0 GPD1 2819 broad.mit.edu 37 12 50501360 50501360 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:50501360C>T uc001rvz.3 + 5 656 c.623C>T c.(622-624)gCc>gTc p.A208V GPD1_uc001rwa.3_Missense_Mutation_p.A185V NM_005276 NP_005267 P21695 GPDA_HUMAN Homo sapiens glycerol-3-phosphate dehydrogenase 1 (soluble) (GPD1), mRNA. 208 glycerol-3-phosphate catabolic process|triglyceride biosynthetic process cytosol|glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 NADH(DB00157) AATGTAGTGGCCGTGGGGGCT 0.572000 91 50 0 0 0.003610 0 0 FST 10468 broad.mit.edu 37 5 52778781 52778781 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:52778781G>A uc003jpd.3 + 1 515 c.157G>A c.(157-159)Gag>Aag p.E53K FST_uc003jpc.3_Missense_Mutation_p.E53K NM_013409 NP_037541 P19883 FST_HUMAN Homo sapiens follistatin (FST), transcript variant FST344, mRNA. 53 TB. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development extracellular region activin binding|protein binding|signal transducer activity breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1) 15 Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05) ACTGAGCAAGGAGGAGTGCTG 0.612000 OREG0016608 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 20 0 0 0.008871 0 0 SMYD1 150572 broad.mit.edu 37 2 88384003 88384003 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:88384003G>A uc002ssr.3 + 1 391 c.306G>A c.(304-306)gaG>gaA p.E102E SMYD1_uc002ssq.2_Intron|MIR4780_uc021vkp.1_5'Flank NM_198274 NP_938015 Q8NB12 SMYD1_HUMAN Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA. 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 TGCCCAATGAGAACATCAGGT 0.507000 24 20 0 0 0.008871 0 0 SHOC2 8036 broad.mit.edu 37 10 112769567 112769567 + Missense_Mutation SNP A T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:112769567A>T uc001kzl.4 + 7 1868 c.1519A>T c.(1519-1521)Act>Tct p.T507S SHOC2_uc009xxx.3_Missense_Mutation_p.T507S|SHOC2_uc010qrg.2_Missense_Mutation_p.T146S|SHOC2_uc001kzn.3_Missense_Mutation_p.T461S NM_007373 NP_031399 Q9UQ13 SHOC2_HUMAN Homo sapiens soc-2 suppressor of clear homolog (C. elegans) (SHOC2), mRNA. 507 Ras protein signal transduction|fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction nucleus|protein phosphatase type 1 complex protein phosphatase binding|protein phosphatase regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2) 17 Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126) GAACCTACTTACTCACCTTCC 0.398000 36 11 0 0 0.008291 0 0 HRNR 388697 broad.mit.edu 37 1 152191721 152191721 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:152191721C>T uc001ezt.1 - 2 2460 c.2384G>A c.(2383-2385)gGg>gAg p.G795E NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 795 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTGCCAGACCCGTGTTGGCC 0.602000 78 17 0 0 0.004990 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21793412 21793412 + Missense_Mutation SNP G A A rs61751268 TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:21793412G>A uc001wag.3 + 14 2237 c.2237G>A c.(2236-2238)gGg>gAg p.G746E RPGRIP1_uc001wah.3_Missense_Mutation_p.G388E|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001wak.3_Missense_Mutation_p.G221E|RPGRIP1_uc010aim.3_Missense_Mutation_p.G129E|RPGRIP1_uc001wal.3_Missense_Mutation_p.G105E|RPGRIP1_uc001wam.3_Missense_Mutation_p.G63E NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA. 746 G -> E (in LCA6). response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) GAAGAGTTCGGGGTTCTAGAG 0.493000 16 5 0 0 0.003080 0 0 HDAC7 51564 broad.mit.edu 37 12 48181866 48181866 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:48181866C>T uc010slo.2 - 19 2512 c.2317G>A c.(2317-2319)Gac>Aac p.D773N HDAC7_uc001rqe.3_Missense_Mutation_p.D207N|HDAC7_uc001rqj.4_Missense_Mutation_p.D736N|HDAC7_uc001rqk.4_Missense_Mutation_p.D756N|HDAC7_uc010slp.2_5'UTR NM_015401 NP_056216 Q8WUI4 HDAC7_HUMAN Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA. 734 Histone deacetylase. negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase 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)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GBM - Glioblastoma multiforme(48;0.137) AAGTTGCCGTCGTCATGGCGA 0.587000 28 23 0 0 0.012319 0 0 C17orf97 400566 broad.mit.edu 37 17 263312 263312 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:263312C>T uc021tna.1 + 1 694 c.678C>T c.(676-678)caC>caT p.H226H C17orf97_uc010vpz.1_Non-coding_Transcript NM_001013672 NP_001013694 Q6ZQX7 CQ097_HUMAN Homo sapiens chromosome 17 open reading frame 97 (C17orf97), mRNA. 226 20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 AGGGCTTCCACCCCGACCCCG 0.711000 19 18 0 0 0.012319 0 0 ALDOB 229 broad.mit.edu 37 9 104192063 104192063 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:104192063C>T uc004bbk.2 - 2 380 c.298G>A c.(298-300)Gaa>Aaa p.E100K NM_000035 NP_000026 P05062 ALDOB_HUMAN Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA. 100 NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding p.K99K(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1) 24 Acute lymphoblastic leukemia(62;0.0559) ATCCCCTTTTCCTTGAGGATG 0.532000 57 79 0 0 0.003610 0 0 SH3TC2 79628 broad.mit.edu 37 5 148420988 148420988 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:148420988G>A uc003lpu.3 - 5 874 c.722C>T c.(721-723)cCt>cTt p.P241L SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Intron|SH3TC2_uc010jgx.3_Missense_Mutation_p.P234L|SH3TC2_uc003lpv.1_Intron|SH3TC2_uc011dbz.1_Missense_Mutation_p.P126L NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA. 241 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGTGGAAAGGGAGAGGCAG 0.572000 22 9 0 0 0.004482 0 0 B4GALNT3 283358 broad.mit.edu 37 12 662863 662863 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:662863G>A uc001qii.1 + 13 1774 c.1774G>A c.(1774-1776)Gaa>Aaa p.E592K B4GALNT3_uc001qij.1_Missense_Mutation_p.E495K|B4GALNT3_uc001qik.1_Missense_Mutation_p.E141K NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA. 592 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) TGGGGAGGAGGAAGTGGTGGC 0.617000 23 16 0 0 0.004990 0 0 DCN 1634 broad.mit.edu 37 12 91545483 91545483 + Missense_Mutation SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:91545483T>C uc001tbt.3 - 6 1087 c.833A>G c.(832-834)aAc>aGc p.N278S DCN_uc001tbo.3_Missense_Mutation_p.N169S|DCN_uc001tbp.3_Missense_Mutation_p.N131S|DCN_uc001tbq.3_Intron|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Missense_Mutation_p.N278S NM_133503 NP_598010 P07585 PGS2_HUMAN Homo sapiens decorin (DCN), transcript variant A2, mRNA. 278 organ morphogenesis extracellular space central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 AAGCTTGTTGTTGTCCAAGTG 0.488000 19 12 0 0 0.001855 0 0 HNF4A 3172 broad.mit.edu 37 20 43058177 43058177 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:43058177C>T uc002xma.3 + 9 1386 c.1297C>T c.(1297-1299)Cca>Tca p.P433S HNF4A_uc002xlu.3_Missense_Mutation_p.P401S|HNF4A_uc002xlv.3_Missense_Mutation_p.P411S|HNF4A_uc010ggq.3_Missense_Mutation_p.P426S|HNF4A_uc002xlz.3_Missense_Mutation_p.P423S NM_000457 NP_000448 P41235 HNF4A_HUMAN Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA. 433 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CCCTGAGACCCCACAGCCCTC 0.612000 250 127 0 0 0.003610 0 0 ABCC9 10060 broad.mit.edu 37 12 22001175 22001175 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:22001175C>T uc001rfh.3 - 22 2795 c.2775G>A c.(2773-2775)atG>atA p.M925I ABCC9_uc001rfi.1_Missense_Mutation_p.M925I NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 925 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GGTCAGCTTCCATATCCTGCA 0.428000 34 21 0 0 0.012319 0 0 ZBTB34 403341 broad.mit.edu 37 9 129643035 129643035 + Missense_Mutation SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:129643035A>G uc022bnn.1 + 0 1345 c.1345A>G c.(1345-1347)Aaa>Gaa p.K449E ZBTB34_uc004bqm.4_Missense_Mutation_p.K449E NM_001099270 NP_001092740 Q8NCN2 ZBT34_HUMAN Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA. 449 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 GCACTTGCGGAAAAACCACCC 0.527000 13 16 0 0 0.006122 0 0 TUBAL3 79861 broad.mit.edu 37 10 5435975 5435975 + Silent SNP G A A rs142943186 byFrequency TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:5435975G>A uc001ihy.3 - 3 884 c.846C>T c.(844-846)atC>atT p.I282I TUBAL3_uc001ihz.3_Silent_p.I242I NM_024803 NP_079079 A6NHL2 TBAL3_HUMAN Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA. 282 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3) 25 CAGCAGAGACGATGGGGGCGA 0.517000 80 44 0 0 0.003610 0 0 ALS2 57679 broad.mit.edu 37 2 202609105 202609105 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:202609105G>A uc002uyo.3 - 9 2402 c.2046C>T c.(2044-2046)gcC>gcT p.A682A ALS2_uc002uyp.4_Silent_p.A682A|ALS2_uc002uyq.3_Silent_p.A682A|ALS2_uc010ftl.3_Non-coding_Transcript NM_020919 NP_065970 Q96Q42 ALS2_HUMAN Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA. 682 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 TATCCACCAAGGCTAAATAGC 0.328000 27 11 0 0 0.010729 0 0 CACNG5 27091 broad.mit.edu 37 17 64880763 64880763 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:64880763C>T uc010wqi.2 + 4 792 c.555C>T c.(553-555)tcC>tcT p.S185S CACNG5_uc010wqj.2_Silent_p.S185S|CACNG5_uc021uby.1_Non-coding_Transcript NM_145811 NP_665810 Q9UF02 CCG5_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA. 185 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) CCGCCATCTCCTTCCTTTTAA 0.562000 64 29 0 0 0.007291 0 0 SLC15A2 6565 broad.mit.edu 37 3 121658238 121658238 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:121658238C>T uc003eep.2 + 19 1957 c.1804C>T c.(1804-1806)Cca>Tca p.P602S SLC15A2_uc011bjn.1_Missense_Mutation_p.P571S NM_021082 NP_066568 Q16348 S15A2_HUMAN Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA. 602 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) TGAAGACATTCCAGCCAACAA 0.433000 41 28 0 0 0.010818 0 0 SETD5 55209 broad.mit.edu 37 3 9490114 9490114 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:9490114G>A uc003brt.3 + 15 2581 c.2146G>A c.(2146-2148)Gag>Aag p.E716K SETD5_uc003brs.1_Missense_Mutation_p.E697K|SETD5_uc003bru.3_Missense_Mutation_p.E618K|SETD5_uc003brv.3_Missense_Mutation_p.E605K|SETD5_uc010hck.3_Missense_Mutation_p.E198K|SETD5_uc003brx.3_Missense_Mutation_p.E385K NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN Homo sapiens SET domain containing 5 (SETD5), mRNA. 716 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) AGAGAAGCAAGAGTGCCCTGT 0.398000 33 18 0 0 0.008871 0 0 FER1L6 654463 broad.mit.edu 37 8 125047638 125047638 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:125047638G>A uc003yqw.3 + 18 2613 c.2407G>A c.(2407-2409)Gaa>Aaa p.E803K FER1L6-AS1_uc003yqx.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 803 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CTATGAAGCAGAAATGTCCTC 0.547000 14 39 0 0 0.007835 0 0 CDH10 1008 broad.mit.edu 37 5 24537507 24537507 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:24537507G>A uc003jgr.2 - 2 1014 c.508C>T c.(508-510)Ccc>Tcc p.P170S CDH10_uc011cnu.2_Non-coding_Transcript NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA. 170 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P170P(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GACATTTCGGGAACACTAGCT 0.338000 HNSCC(23;0.051) 71 45 0 0 0.003610 0 0 DDX25 29118 broad.mit.edu 37 11 125791205 125791205 + Missense_Mutation SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:125791205A>G uc001qcz.4 + 10 1462 c.1321A>G c.(1321-1323)Aaa>Gaa p.K441E DDX25_uc010sbk.2_Missense_Mutation_p.K441E NM_013264 NP_037396 Q9UHL0 DDX25_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA. 441 Helicase C-terminal. mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development chromatoid body|nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1) 10 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046) CTTTGGGAAAAAAGGCCTTGC 0.488000 3 21 0 0 0.002780 0 0 RAB19 401409 broad.mit.edu 37 7 140125765 140125765 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:140125765G>A uc010lni.2 + 3 667 c.469G>A c.(469-471)Gtt>Att p.V157I RAB19_uc011krc.1_Missense_Mutation_p.V157I NM_001008749 NP_001008749 A4D1S5 RAB19_HUMAN Homo sapiens RAB19, member RAS oncogene family (RAB19), mRNA. 157 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 9 Melanoma(164;0.0142) CCTCCTGGCCGTTTTGGAGAC 0.522000 121 95 0 0 0.003610 0 0 KIAA1462 57608 broad.mit.edu 37 10 30316433 30316433 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:30316433G>A uc009xle.2 - 2 2781 c.2644C>T c.(2644-2646)Cgc>Tgc p.R882C KIAA1462_uc001iux.3_Missense_Mutation_p.R882C|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.R744C NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 882 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CTGTTTCCGCGGAAGCCCACA 0.617000 47 32 0 0 0.012213 0 0 IGSF10 285313 broad.mit.edu 37 3 151171402 151171402 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:151171402C>T uc011bod.2 - 2 485 c.485G>A c.(484-486)gGa>gAa p.G162E NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA. 162 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GAGCTGATTTCCTTCCAAGTG 0.408000 42 18 0 0 0.008871 0 0 PANX3 116337 broad.mit.edu 37 11 124481516 124481517 + Missense_Mutation DNP GG AA AA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:124481516_124481517GG>AA uc001qah.3 + 0 64_65 c.64_65GG>AA c.(64-66)gga>AAa p.G22K NM_052959 NP_443191 Q96QZ0 PANX3_HUMAN Homo sapiens pannexin 3 (PANX3), mRNA. 22 protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1) 26 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) TGACCGCAGGGGACCCCGCCTC 0.609000 9 31 0 0 0.004672 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803067 185803067 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:185803067G>A uc002uph.3 + 3 3538 c.2944G>A c.(2944-2946)Gga>Aga p.G982R NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 982 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 CCTTCCACAAGGAAAGATGAA 0.423000 46 25 0 0 0.003954 0 0 GPR158 57512 broad.mit.edu 37 10 25886964 25886965 + Missense_Mutation DNP GG AA AA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:25886964_25886965GG>AA uc001isj.3 + 10 2469_2470 c.2409_2410GG>AA c.(2407-2412)aaggag>aaAAag p.E804K GPR158_uc001isk.3_Missense_Mutation_p.E179K NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 804 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 GGAAATCCAAGGAGGAGACCCT 0.540000 48 24 0 0 0.004672 0 0 SERPINB13 5275 broad.mit.edu 37 18 61264581 61264581 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr18:61264581G>A uc010xep.2 + 7 1355 c.1187G>A c.(1186-1188)aGa>aAa p.R396K SERPINB13_uc002ljc.3_Missense_Mutation_p.R387K|SERPINB13_uc002ljd.3_Missense_Mutation_p.R251K|SERPINB13_uc010xeq.2_Missense_Mutation_p.R208K|SERPINB13_uc010xer.2_Missense_Mutation_p.R208K NM_012397 NP_036529 Q9UIV8 SPB13_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA. 387 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 TTCTTCGGCAGATTTTCTTCT 0.418000 44 36 0 0 0.008740 0 0 IRF3 3661 broad.mit.edu 37 19 50165506 50165506 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:50165506C>T uc002poy.2 - 4 1700 c.681G>A c.(679-681)cgG>cgA p.R227R IRF3_uc021uxp.1_Silent_p.R81R|IRF3_uc021uxq.1_Silent_p.R81R|IRF3_uc002pot.2_Intron|IRF3_uc021uxr.1_Intron|IRF3_uc021uxs.1_Intron|IRF3_uc002pow.3_Silent_p.R227R|IRF3_uc021uxo.1_Silent_p.R192R|IRF3_uc002pou.3_Silent_p.R227R|IRF3_uc010end.2_Silent_p.R227R|IRF3_uc002poz.1_Silent_p.R227R|BCL2L12_uc002ppa.3_5'Flank|BCL2L12_uc002ppb.3_5'Flank NM_001197126 NP_001184055 Q14653 IRF3_HUMAN Homo sapiens interferon regulatory factor 3 (IRF3), transcript variant 6, mRNA. 227 Involved in HERC5 binding. MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1) 10 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;0.0011)|GBM - Glioblastoma multiforme(134;0.02) ACCCCACCAGCCGCAGGCCCT 0.657000 27 23 0 0 0.003954 0 0 KIF13B 23303 broad.mit.edu 37 8 28980985 28980985 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:28980985C>T uc003xhh.4 - 27 3436 c.3377G>A c.(3376-3378)cGt>cAt p.R1126H AF086219_uc003xhi.1_Intron NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN Homo sapiens kinesin family member 13B (KIF13B), mRNA. 1126 T cell activation|microtubule-based movement|protein targeting|signal transduction cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) CTGCGCTTCACGGTCAGCATC 0.493000 81 52 0 0 0.003610 0 0 HSF1 3297 broad.mit.edu 37 8 145537219 145537219 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:145537219G>A uc003zbt.4 + 9 1335 c.1165G>A c.(1165-1167)Gat>Aat p.D389N HSF1_uc003zbu.4_Non-coding_Transcript NM_005526 NP_005517 Q00613 HSF1_HUMAN Homo sapiens heat shock transcription factor 1 (HSF1), mRNA. 389 Hydrophobic repeat HR-C.|Transactivation domain. cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) TGACCACTTGGATGCTATGGA 0.632000 4 20 0 0 0.002299 0 0 PPP1R12A 4659 broad.mit.edu 37 12 80203599 80203599 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:80203599G>A uc001syz.3 - 9 1698 c.1431C>T c.(1429-1431)tcC>tcT p.S477S PPP1R12A_uc010suc.2_Silent_p.S390S|PPP1R12A_uc001sza.3_Silent_p.S477S|PPP1R12A_uc010sud.2_Silent_p.S477S|PPP1R12A_uc001szb.3_Silent_p.S477S|PPP1R12A_uc001szc.2_Silent_p.S477S NM_002480 NP_001137358 O14974 MYPT1_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 12A (PPP1R12A), transcript variant 1, mRNA. 477 contractile fiber protein binding|signal transducer activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1) 29 CCAAAGAGGAGGAAAGTCTGG 0.383000 20 10 0 0 0.008291 0 0 ZNF195 7748 broad.mit.edu 37 11 3381777 3381777 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:3381777G>A uc001lxt.3 - 5 643 c.461C>T c.(460-462)aCc>aTc p.T154I ZNF195_uc010qxr.2_Missense_Mutation_p.T135I|ZNF195_uc009ydz.3_Missense_Mutation_p.T109I|ZNF195_uc001lxu.3_Missense_Mutation_p.T86I|ZNF195_uc001lxv.3_Missense_Mutation_p.T131I|ZNF195_uc021qck.1_Missense_Mutation_p.T86I|ZNF195_uc001lxs.3_Missense_Mutation_p.T82I NM_001130520 NP_001123992 O14628 ZN195_HUMAN Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA. 154 Spacer. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) AAGGTCTTGGGTAAAATGAGA 0.328000 9 25 0 0 0.003330 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21327576 21327576 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:21327576G>A uc001req.4 + 3 396 c.292G>A c.(292-294)Gga>Aga p.G98R NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA. 98 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity p.I97T(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) AAAGTTAATTGGAATCGGTTG 0.343000 24 21 0 0 0.012319 0 0 KCNQ4 9132 broad.mit.edu 37 1 41300675 41300675 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:41300675G>A uc001cgh.2 + 11 1732 c.1650G>A c.(1648-1650)aaG>aaA p.K550K KCNQ4_uc001cgi.2_Silent_p.K496K NM_004700 NP_004691 P56696 KCNQ4_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA. 550 A-domain (Tetramerization). sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) GGAAATTCAAGGAGACACTGC 0.572000 81 35 0 0 0.003271 0 0 MYOCD 93649 broad.mit.edu 37 17 12647605 12647605 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:12647605G>A uc002gno.2 + 7 1122 c.823G>A c.(823-825)Gca>Aca p.A275T MYOCD_uc002gnn.2_Missense_Mutation_p.A275T|MYOCD_uc002gnp.1_Missense_Mutation_p.A179T|MYOCD_uc002gnq.2_5'UTR NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 275 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AGACCAGAAGGCAGAGAAGTC 0.547000 42 25 0 0 0.004656 0 0 CHML 1122 broad.mit.edu 37 1 241797921 241797921 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:241797921C>T uc001hzd.3 - 0 1312 c.1148G>A c.(1147-1149)gGa>gAa p.G383E OPN3_uc001hza.3_Intron|OPN3_uc001hzb.3_Intron|OPN3_uc001hzc.3_Intron NM_001821 NP_001812 P26374 RAE2_HUMAN Homo sapiens choroideremia-like (Rab escort protein 2) (CHML), mRNA. 383 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) GGGAATTTCTCCTTGGCCATA 0.423000 73 22 0 0 0.010504 0 0 CCR5 1234 broad.mit.edu 37 3 46414630 46414630 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:46414630C>T uc003cpo.4 + 2 359 c.237C>T c.(235-237)ttC>ttT p.F79F CCR5_uc010hjd.3_Silent_p.F79F|CCR5_uc021wxb.1_Silent_p.F79F NM_001100168 NP_001093638 P51681 CCR5_HUMAN Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA. 79 cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) ACCTGTTTTTCCTTCTTACTG 0.483000 131 67 0 0 0.003610 0 0 IRAK3 11213 broad.mit.edu 37 12 66605263 66605263 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:66605263C>T uc001sth.3 + 4 576 c.474C>T c.(472-474)atC>atT p.I158I IRAK3_uc010ssy.2_Silent_p.I97I NM_007199 NP_009130 Q9Y616 IRAK3_HUMAN Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA. 158 MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(28;0.0203) TTCAAAATATCATAGAAGGAA 0.358000 25 11 0 0 0.010729 0 0 LOC338651 338651 broad.mit.edu 37 11 1619092 1619092 + Missense_Mutation SNP G A A rs151223920 byFrequency TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:1619092G>A uc009ycx.1 + 1 943 c.192G>A c.(190-192)atG>atA p.M64I MOB2_uc001ltq.2_Intron|LOC338651_uc001ltt.1_Non-coding_Transcript|KRTAP5-2_uc001ltv.3_Missense_Mutation_p.S130L Homo sapiens uncharacterized LOC338651 (LOC338651), non-coding RNA. GCAGCAGGATGATCCACAGCC 0.637000 34 125 0 0 0.003610 0 0 FGL2 10875 broad.mit.edu 37 7 76828636 76828636 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:76828636C>T uc003ugb.3 - 0 515 c.475G>A c.(475-477)Gag>Aag p.E159K CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron NM_006682 NP_006673 Q14314 FGL2_HUMAN Homo sapiens fibrinogen-like 2 (FGL2), mRNA. 159 signal transduction fibrinogen complex receptor binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 13 TTCAGCTTCTCCAGGCGACCA 0.378000 53 54 0 0 0.003610 0 0 KAT6B 23522 broad.mit.edu 37 10 76735652 76735652 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:76735652C>T uc001jwn.1 + 7 2050 c.1557C>T c.(1555-1557)ccC>ccT p.P519P KAT6B_uc001jwm.1_Intron|KAT6B_uc001jwo.1_Intron|KAT6B_uc001jwp.1_Intron NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA. 519 Negatively regulates HAT activity.|Ser-rich. histone H3 acetylation|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 factor binding|zinc ion binding CTCCCTCTCCCCAGAGTTCTT 0.547000 47 31 0 0 0.010818 0 0 JARID2 3720 broad.mit.edu 37 6 15497063 15497063 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:15497063C>T uc003nbj.3 + 6 1851 c.1607C>T c.(1606-1608)cCg>cTg p.P536L JARID2_uc011diu.1_Missense_Mutation_p.P400L|JARID2_uc011div.2_Missense_Mutation_p.P364L|JARID2_uc011diw.1_Missense_Mutation_p.P498L NM_004973 NP_004964 Q92833 JARD2_HUMAN Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA. 536 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) GTGCACAAGCCGCAGGACTCG 0.667000 10 10 0 0 0.008291 0 0 MUC17 140453 broad.mit.edu 37 7 100678076 100678076 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:100678076G>A uc003uxp.1 + 2 3432 c.3379G>A c.(3379-3381)Gac>Aac p.D1127N MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 1127 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) AACTCCTGTCGACACCAGCAT 0.517000 422 356 0 0 0.003610 0 0 OR52I2 143502 broad.mit.edu 37 11 4608286 4608286 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:4608286G>A uc010qyh.2 + 0 266 c.244G>A c.(244-246)Gat>Aat p.D82N NM_001005170 NP_001005170 Q8NH67 O52I2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA. 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 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) AATCTGGATGGATTCCACTCG 0.493000 53 139 0 0 0.003610 0 0 CASR 846 broad.mit.edu 37 3 121980560 121980560 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:121980560C>T uc003eew.4 + 3 1116 c.678C>T c.(676-678)ttC>ttT p.F226F CASR_uc003eev.4_Silent_p.F226F NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 226 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TTGAGAAATTCCGAGAGGAAG 0.522000 79 59 0 0 0.003610 0 0 RACGAP1P 83956 broad.mit.edu 37 12 45458531 45458531 + RNA SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:45458531G>A uc001rol.3 - 0 c.664C>T Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA. TGGAGCCAATGGAACGAGTTT 0.493000 21 7 0 0 0.003080 0 0 HSPG2 3339 broad.mit.edu 37 1 22186462 22186462 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:22186462G>A uc009vqd.3 - 40 5091 c.5051C>T c.(5050-5052)cCt>cTt p.P1684L HSPG2_uc001bfj.3_Missense_Mutation_p.P1683L NM_005529 NP_005520 P98160 PGBM_HUMAN Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA. 1683 Ig-like C2-type 2. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GCTTCGAGCAGGATGGACCTC 0.607000 22 9 0 0 0.008291 0 0 FCGBP 8857 broad.mit.edu 37 19 40368399 40368400 + Missense_Mutation DNP CC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:40368399_40368400CC>TT uc002omp.4 - 27 12956_12957 c.12948_12949GG>AA c.(12946-12951)ggggac>ggAAac p.D4317N NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 4317 extracellular region protein binding p.G4316R(1) 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) ATGTCACGGTCCCCACCACCCA 0.609000 206 13 0 0 0.004672 0 0 GDF5 8200 broad.mit.edu 37 20 34022071 34022071 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:34022071C>T uc010gfc.1 - 1 1383 c.1142G>A c.(1141-1143)cGg>cAg p.R381Q GDF5OS_uc002xcj.3_Missense_Mutation_p.P161L|GDF5_uc002xck.1_Missense_Mutation_p.R381Q NM_000557 NP_000548 P43026 GDF5_HUMAN Homo sapiens growth differentiation factor 5 (GDF5), mRNA. 381 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity p.R381L(2)|p.R39S(2)|p.R380Q(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) CAGTGGGGCCCGCCGTTTTCG 0.577000 94 41 0 0 0.003610 0 0 LILRA1 11024 broad.mit.edu 37 19 55087289 55087289 + Missense_Mutation SNP G A A rs149720719 by1000genomes TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:55087289G>A uc010ern.3 + 6 1437 c.968G>A c.(967-969)aGa>aAa p.R323K LILRA1_uc002qgg.4_Missense_Mutation_p.R323K|LILRA1_uc002qgf.3_Missense_Mutation_p.R323K|LILRA1_uc010yfe.1_Missense_Mutation_p.R323K|LILRA1_uc010yff.1_Missense_Mutation_p.R311K|LILRA1_uc010ero.3_Missense_Mutation_p.R311K|LILRA1_uc010yfg.1_Intron O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA. 325 cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TTCTATGACAGACCCTCTCTC 0.597000 10 7 0 0 0.003080 0 0 abParts 0 broad.mit.edu 37 22 22682096 22682096 + RNA SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:22682096C>T uc021wml.1 + 38 c.4172C>T Parts of antibodies, mostly variable regions. ACCTCAGCCTCCCTGGCCATC 0.562000 104 63 0 0 0.003610 0 0 DUS3L 56931 broad.mit.edu 37 19 5789331 5789332 + Nonsense_Mutation DNP GG AA AA rs144731277 TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:5789331_5789332GG>AA uc002mdc.3 - 2 883_884 c.786_787CC>TT c.(784-789)gcccag>gcTTag p.Q263* DUS3L_uc002mdd.3_Intron|DUS3L_uc010xiw.1_Non-coding_Transcript NM_020175 NP_064560 Q96G46 DUS3L_HUMAN Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA. 263 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2) 14 GGGACCTGCTGGGCACCACAGT 0.748000 13 6 0 0 0.004672 0 0 ZNF366 167465 broad.mit.edu 37 5 71756135 71756135 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:71756135C>T uc003kce.1 - 1 1375 c.1189G>A c.(1189-1191)Gag>Aag p.E397K NM_152625 NP_689838 Q8N895 ZN366_HUMAN Homo sapiens zinc finger protein 366 (ZNF366), mRNA. 397 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) TTGTCGCACTCGGAGCAGTTG 0.592000 35 14 0 0 0.004007 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18753396 18753396 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:18753396G>A uc003zne.4 + 15 2259 c.2107G>A c.(2107-2109)Gaa>Aaa p.E703K NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA. 703 TSP type-1 6. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) AGAGATGAATGAAACAGTCAT 0.557000 4 5 0 0 0.000602 0 0 FGF21 26291 broad.mit.edu 37 19 49261371 49261371 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:49261371C>T uc002pkn.1 + 3 1096 c.524C>T c.(523-525)cCg>cTg p.P175L FUT1_uc002pkk.3_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Missense_Mutation_p.P175L NM_019113 NP_061986 Q9NSA1 FGF21_HUMAN Homo sapiens fibroblast growth factor 21 (FGF21), mRNA. 175 cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import extracellular region|soluble fraction growth factor activity breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 8 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) CCCGCACTCCCGGAGCCACCC 0.711000 16 13 0 0 0.001855 0 0 ANKRD24 170961 broad.mit.edu 37 19 4219743 4219743 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:4219743G>A uc010dtt.1 + 18 3435 c.3159G>A c.(3157-3159)gaG>gaA p.E1053E NM_133475 NP_597732 Q8TF21 ANR24_HUMAN Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA. 1053 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) AGGCCAAGGAGAAGGACAAGA 0.647000 27 15 0 0 0.004007 0 0 ZNF674 641339 broad.mit.edu 37 X 46388340 46388340 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:46388340G>A uc004dgr.3 - 3 247 c.20C>T c.(19-21)tCa>tTa p.S7L ZNF674_uc011mlg.2_Missense_Mutation_p.S7L|ZNF674_uc022bvl.1_Missense_Mutation_p.S7L|ZNF674_uc010nhm.2_Missense_Mutation_p.S7L NM_001039891 NP_001034980 Q2M3X9 ZN674_HUMAN Homo sapiens zinc finger protein 674 (ZNF674), transcript variant 1, mRNA. 7 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2) 2 GAAGGTCAATGATTCCTGTAA 0.552000 7 42 0 0 0.011902 0 0 TEP1 7011 broad.mit.edu 37 14 20846647 20846647 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:20846647G>A uc001vxe.3 - 37 5440 c.5400C>T c.(5398-5400)ccC>ccT p.P1800P TEP1_uc010ahk.3_Silent_p.P1143P|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.P1692P|TEP1_uc010tlh.1_Silent_p.P138P NM_007110 NP_009041 Q99973 TEP1_HUMAN Homo sapiens telomerase-associated protein 1 (TEP1), mRNA. 1800 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TCAGGGACTTGGGGTAGGTGT 0.582000 31 10 0 0 0.001368 0 0 PEG3 5178 broad.mit.edu 37 19 57286781 57286781 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:57286781C>T uc002qnr.2 - 10 1241 c.859G>A c.(859-861)Gaa>Aaa p.E287K BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Missense_Mutation_p.E83K|PEG3_uc010ygq.1_Missense_Mutation_p.E83K|PEG3_uc010etp.2_Missense_Mutation_p.E287K|PEG3_uc010ygs.1_Missense_Mutation_p.E287K|PEG3_uc002qnq.2_Missense_Mutation_p.E287K NM_015363 NP_056178 Q9GZU2 PEG3_HUMAN Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA. 438 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTCTCAAATTCATCACTGCCA 0.463000 48 25 0 0 0.005443 0 0 RPAP1 26015 broad.mit.edu 37 15 41815067 41815067 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:41815067G>A uc001zod.3 - 18 2762 c.2638C>T c.(2638-2640)Ccc>Tcc p.P880S NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA. 880 Leu-rich. nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) CTGAGACGGGGGCAGCCTCCC 0.632000 17 14 0 0 0.002450 0 0 FLG2 388698 broad.mit.edu 37 1 152328911 152328911 + Nonsense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:152328911G>A uc001ezw.4 - 2 1424 c.1351C>T c.(1351-1353)Caa>Taa p.Q451* AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 451 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCACAAGTTTGACCTGAGCCA 0.478000 199 41 0 0 0.006999 0 0 ZNF99 7652 broad.mit.edu 37 19 22941813 22941814 + Missense_Mutation DNP GG AA AA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:22941813_22941814GG>AA uc021urt.1 - 3 1052_1053 c.897_898CC>TT c.(895-900)cacctt>caTTtt p.L300F NM_001080409 NP_001073878 Homo sapiens zinc finger protein 99 (ZNF99), mRNA. NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TGTCTAGTAAGGTGTGAGGATT 0.356000 24 14 0 0 0.004672 0 0 LGALS3BP 3959 broad.mit.edu 37 17 76970772 76970772 + Missense_Mutation SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:76970772T>C uc002jwh.3 - 3 553 c.374A>G c.(373-375)aAt>aGt p.N125S LGALS3BP_uc002jwi.3_Intron NM_005567 NP_005558 Q08380 LG3BP_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 3 binding protein (LGALS3BP), mRNA. 125 cell adhesion|cellular defense response extracellular space|membrane|proteinaceous extracellular matrix protein binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139) CCGCTCACCATTGGTGCAGAC 0.692000 15 12 0 0 0.001855 0 0 CYP4F22 126410 broad.mit.edu 37 19 15659975 15659975 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:15659975G>A uc002nbh.4 + 11 1464 c.1297G>A c.(1297-1299)Gga>Aga p.G433R NM_173483 NP_775754 Q6NT55 CP4FN_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA. 433 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 CAGCATCTATGGAACCCACCA 0.632000 37 23 0 0 0.006320 0 0 POLR2B 5431 broad.mit.edu 37 4 57891066 57891066 + Missense_Mutation SNP G C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:57891066G>C uc003hcl.1 + 21 3022 c.2979G>C c.(2977-2979)aaG>aaC p.K993N POLR2B_uc011cae.1_Missense_Mutation_p.K986N|POLR2B_uc011caf.1_Missense_Mutation_p.K918N|POLR2B_uc003hcm.1_Missense_Mutation_p.K486N NM_000938 NP_000929 P30876 RPB2_HUMAN Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA. 993 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) CGGCTAACAAGGGTGAAATTG 0.338000 39 24 0 0 0.003330 0 0 MUL1 79594 broad.mit.edu 37 1 20829787 20829787 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:20829787G>A uc001bdi.4 - 1 293 c.136C>T c.(136-138)Cat>Tat p.H46Y NM_024544 NP_078820 Q969V5 MUL1_HUMAN Homo sapiens mitochondrial E3 ubiquitin protein ligase 1 (MUL1), nuclear gene encoding mitochondrial protein, mRNA. 46 activation of JUN kinase activity|activation of caspase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to mitochondrial outer membrane|nucleus|peroxisome identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(5) 11 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) TCACCCAAATGAACTTTTTTA 0.313000 15 9 0 0 0.004482 0 0 PI4KB 5298 broad.mit.edu 37 1 151288521 151288521 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:151288521G>A uc001exr.3 - 2 1112 c.473C>T c.(472-474)tCa>tTa p.S158L PI4KB_uc001exs.3_Missense_Mutation_p.S146L|PI4KB_uc001exu.3_Missense_Mutation_p.S146L|PI4KB_uc010pcw.2_Intron|PI4KB_uc001ext.3_Missense_Mutation_p.S146L NM_002651 NP_001185704 Q9UBF8 PI4KB_HUMAN Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA. 146 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ATACAGGTATGAAATGGCCAT 0.507000 110 27 0 0 0.009535 0 0 ARHGEF3 50650 broad.mit.edu 37 3 56807811 56807811 + Nonsense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:56807811G>A uc003dih.2 - 4 336 c.226C>T c.(226-228)Cga>Tga p.R76* ARHGEF3_uc011bew.1_Nonsense_Mutation_p.R44*|ARHGEF3_uc011bev.1_Nonsense_Mutation_p.R15*|ARHGEF3_uc003dif.2_Nonsense_Mutation_p.R50*|ARHGEF3_uc003dig.2_Nonsense_Mutation_p.R44*|ARHGEF3_uc010hmy.1_5'UTR|ARHGEF3_uc003dii.2_Nonsense_Mutation_p.R44* NM_001128615 NP_001122087 Q9NR81 ARHG3_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3 (ARHGEF3), transcript variant 1, mRNA. 44 Rho protein signal transduction|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) GACGTGACTCGGGAAAGGGGT 0.468000 67 33 0 0 0.004289 0 0 TPO 7173 broad.mit.edu 37 2 1544387 1544387 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:1544387C>T uc002qwr.3 + 15 2726 c.2640C>T c.(2638-2640)tcC>tcT p.S880S TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.S880S|TPO_uc002qwx.3_Silent_p.S823S|TPO_uc002qwu.3_Silent_p.S823S|TPO_uc010yio.2_Silent_p.S707S|TPO_uc010yip.2_Silent_p.S836S|TPO_uc002qwy.1_Silent_p.S176S|TPO_uc002qwz.3_Intron NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 880 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GCACTAAATCCACACTGCCCA 0.637000 43 24 0 0 0.003954 0 0 SLC16A5 9121 broad.mit.edu 37 17 73096434 73096434 + Missense_Mutation SNP C T T rs149877409 TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:73096434C>T uc002jmr.3 + 4 1048 c.676C>T c.(676-678)Cac>Tac p.H226Y SLC16A5_uc002jmt.3_Missense_Mutation_p.H226Y|SLC16A5_uc002jmu.3_Missense_Mutation_p.H226Y|SLC16A5_uc010wrt.2_Missense_Mutation_p.H266Y NM_004695 NP_004686 O15375 MOT6_HUMAN Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA. 226 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) CATCCAGCGCCACCTGGCCTT 0.632000 30 13 0 0 0.001855 0 0 SPEG 10290 broad.mit.edu 37 2 220355185 220355185 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:220355185C>T uc010fwg.3 + 36 8976 c.8976C>T c.(8974-8976)ttC>ttT p.F2992F NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 2992 Protein kinase 2. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GGCGAACGTTCGTGGCCAAGA 0.677000 29 28 0 0 0.012213 0 0 HYDIN 54768 broad.mit.edu 37 16 70926270 70926270 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:70926270G>A uc002ezr.3 - 55 9559 c.9408C>T c.(9406-9408)cgC>cgT p.R3136R NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 3137 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TTACCTGACAGCGCAGAACAG 0.493000 27 12 0 0 0.001855 0 0 FMO3 2328 broad.mit.edu 37 1 171072937 171072937 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:171072937G>A uc001ghi.3 + 2 255 c.144G>A c.(142-144)gaG>gaA p.E48E FMO3_uc001ghh.3_Silent_p.E48E|FMO3_uc010pmb.2_Silent_p.E28E|FMO3_uc010pmc.2_Intron|MIR1295A_uc021pes.1_5'Flank NM_001002294 NP_008825 P31513 FMO3_HUMAN Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA. 48 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ACCATGCAGAGGAGGGCAGGG 0.433000 68 95 0 0 0.003610 0 0 NRG2 9542 broad.mit.edu 37 5 139422085 139422085 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:139422085C>T uc003lev.2 - 0 800 c.570G>A c.(568-570)agG>agA p.R190R NRG2_uc003lew.2_Silent_p.R190R|NRG2_uc003lex.2_Silent_p.R190R|NRG2_uc003ley.2_Silent_p.R190R|NRG2_uc021yed.1_Silent_p.R190R NM_013982 NP_053585 O14511 NRG2_HUMAN Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA. 190 embryo development extracellular region|integral to membrane|plasma membrane growth factor activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCGCTGGTTCCTTTCGAGCG 0.597000 24 13 0 0 0.001368 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85449863 85449863 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:85449863C>T uc001tac.3 + 7 1403 c.1292C>T c.(1291-1293)tCa>tTa p.S431L LRRIQ1_uc021rbo.1_Missense_Mutation_p.S309L|LRRIQ1_uc001taa.1_Missense_Mutation_p.S406L NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA. 431 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) GATGAAAATTCAAAGAAGCAG 0.303000 62 36 0 0 0.008740 0 0 SF3B3 23450 broad.mit.edu 37 16 70597922 70597922 + Missense_Mutation SNP C G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:70597922C>G uc002ezf.3 + 17 2643 c.2432C>G c.(2431-2433)aCg>aGg p.T811R NM_012426 NP_036558 Q15393 SF3B3_HUMAN Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA. 811 protein complex assembly U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) ACTGAGGCCACGAAAGCTCAG 0.438000 37 20 0 0 0.010504 0 0 ZNF592 9640 broad.mit.edu 37 15 85341252 85341252 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:85341252C>T uc002bld.3 + 5 2888 c.2552C>T c.(2551-2553)cCc>cTc p.P851L ZNF592_uc010upb.2_Non-coding_Transcript NM_014630 NP_055445 Q92610 ZN592_HUMAN Homo sapiens zinc finger protein 592 (ZNF592), mRNA. 851 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) ACCCAGCACCCCACCCAGCCC 0.627000 20 13 0 0 0.002450 0 0 ZNF445 353274 broad.mit.edu 37 3 44496777 44496777 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:44496777G>A uc003cnf.2 - 2 613 c.265C>T c.(265-267)Ctc>Ttc p.L89F ZNF445_uc011azv.1_Missense_Mutation_p.L89F|ZNF445_uc011azw.1_Missense_Mutation_p.L89F|ZNF445_uc021wwo.1_Missense_Mutation_p.L89F NM_181489 NP_852466 P59923 ZN445_HUMAN Homo sapiens zinc finger protein 445 (ZNF445), mRNA. 89 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) GCCTTGGAGAGAACGTCAGGC 0.592000 64 20 0 0 0.012319 0 0 PDGFD 80310 broad.mit.edu 37 11 103797677 103797677 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:103797677G>A uc001phq.3 - 5 1322 c.950C>T c.(949-951)aCa>aTa p.T317I PDGFD_uc001php.3_Missense_Mutation_p.T311I NM_025208 NP_079484 Q9GZP0 PDGFD_HUMAN Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA. 317 positive regulation of cell division Golgi membrane|endoplasmic reticulum lumen|extracellular region growth factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) TGAATTGCATGTGCAGGACCT 0.468000 6 31 0 0 0.012213 0 0 TG 7038 broad.mit.edu 37 8 133920503 133920503 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:133920503G>A uc003ytw.3 + 17 3961 c.3920G>A c.(3919-3921)aGt>aAt p.S1307N TG_uc010mdw.3_Missense_Mutation_p.S66N NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 1307 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AAGATGTGCAGTGCTGACTAC 0.592000 22 37 0 0 0.006230 0 0 CRNN 49860 broad.mit.edu 37 1 152383340 152383340 + Missense_Mutation SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:152383340T>C uc001ezx.2 - 2 292 c.218A>G c.(217-219)gAa>gGa p.E73G NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN Homo sapiens cornulin (CRNN), mRNA. 73 EF-hand. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding p.K72K(2) breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GACCAGGAATTCCTTGAATTC 0.537000 142 33 0 0 0.009535 0 0 PCYT1B 9468 broad.mit.edu 37 X 24637166 24637166 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:24637166G>A uc004dbi.3 - 1 386 c.153C>T c.(151-153)acC>acT p.T51T PCYT1B_uc004dbk.4_Silent_p.T51T|PCYT1B_uc004dbj.3_Silent_p.T33T NM_004845 NP_004836 Q9Y5K3 PCY1B_HUMAN Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA. 51 endoplasmic reticulum choline-phosphate cytidylyltransferase activity breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 17 Choline(DB00122) ACTGGCAGTTGGTTTCATCAG 0.488000 2 30 0 0 0.012213 0 0 NBPF10 100132406 broad.mit.edu 37 1 144619399 144619399 + Silent SNP G A A rs4067645 by1000genomes TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:144619399G>A uc009wig.1 + 5 734 c.540G>A c.(538-540)gtG>gtA p.V180V NBPF10_uc010oxo.1_Silent_p.V182V|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Silent_p.V113V|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Intron NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 182 p.A179D(2) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ATGAGAAAGTGCAGAAATCAT 0.413000 292 7 0 0 0.006214 0 0 TCRBV12S2 0 broad.mit.edu 37 7 142231754 142231754 + Nonsense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:142231754G>A uc003vyh.2 - 1 261 c.163C>T c.(163-165)Cga>Tga p.R55* TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|TCRBV12S2_uc022anm.1_Non-coding_Transcript SubName: Full=V_segment translation product; Flags: Fragment; AGGTCTTGTCGATACCAGAAC 0.488000 172 103 0 0 0.003610 0 0 TMEM237 65062 broad.mit.edu 37 2 202494496 202494496 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:202494496G>A uc021vvg.1 - 7 734 c.633C>T c.(631-633)tcC>tcT p.S211S TMEM237_uc021vvd.1_Silent_p.S6S|TMEM237_uc021vve.1_Silent_p.S203S|TMEM237_uc021vvf.1_Silent_p.S6S|TMEM237_uc010zho.1_Silent_p.S6S|TMEM237_uc010zhp.1_Non-coding_Transcript NM_001044385 NP_001037850 Q96Q45 TM237_HUMAN Homo sapiens transmembrane protein 237 (TMEM237), transcript variant 1, mRNA. 235 integral to membrane protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3) 7 TGGTGGTCCAGGAAGGCTTCA 0.423000 61 28 0 0 0.008361 0 0 HIST1H2AE 3012 broad.mit.edu 37 6 26217325 26217325 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:26217325C>T uc003nha.1 + 0 178 c.123C>T c.(121-123)tcC>tcT p.S41S HIST1H2BG_uc003ngz.2_5'Flank NM_021052 NP_066390 P04908 H2A1B_HUMAN Homo sapiens histone cluster 1, H2ae (HIST1H2AE), mRNA. 41 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 10 all_hematologic(11;0.196) GCAACTACTCCGAACGAGTCG 0.607000 38 38 0 0 0.005524 0 0 SYT17 51760 broad.mit.edu 37 16 19195177 19195177 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:19195177C>T uc002dfw.3 + 4 990 c.659C>T c.(658-660)tCg>tTg p.S220L SYT17_uc002dfx.3_Missense_Mutation_p.S159L|SYT17_uc002dfy.3_Missense_Mutation_p.S216L NM_016524 NP_057608 Q9BSW7 SYT17_HUMAN Homo sapiens synaptotagmin XVII (SYT17), mRNA. 220 C2 1. membrane|synaptic vesicle transporter activity p.S220S(1) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 17 CACGATGGCTCGCGCCAGGAC 0.602000 119 61 0 0 0.003610 0 0 RSL1D1 26156 broad.mit.edu 37 16 11931667 11931667 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:11931667G>A uc002dbp.1 - 8 1523 c.1450C>T c.(1450-1452)Ccc>Tcc p.P484S RSL1D1_uc010buv.1_Missense_Mutation_p.P483S|RSL1D1_uc010uyw.1_Missense_Mutation_p.P264S NM_015659 NP_056474 O76021 RL1D1_HUMAN Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA. 484 regulation of protein localization|translation large ribosomal subunit|nucleolus RNA binding|protein binding|structural constituent of ribosome NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 15 GGTACTTTGGGTTTTTTGGGC 0.473000 122 82 0 0 0.003610 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151161774 151161774 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:151161774G>A uc011eem.1 + 15 4165 c.4077G>A c.(4075-4077)agG>agA p.R1359R PLEKHG1_uc003qny.1_Silent_p.R1300R NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA. 1300 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) ATCGTAGAAGGAAATCTGACT 0.423000 7 13 0 0 0.001855 0 0 PLXDC2 84898 broad.mit.edu 37 10 20357116 20357116 + Silent SNP C T T rs7912840 TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:20357116C>T uc001iqg.1 + 3 1126 c.489C>T c.(487-489)ttC>ttT p.F163F PLXDC2_uc001iqh.1_Silent_p.F114F NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN Homo sapiens plexin domain containing 2 (PLXDC2), mRNA. 163 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 ATCTGTCCTTCGATTTTCCAT 0.388000 28 15 0 0 0.004007 0 0 PKD1L2 114780 broad.mit.edu 37 16 81187717 81187717 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:81187717C>T uc002fgh.1 - 25 4255 c.4255G>A c.(4255-4257)Gga>Aga p.G1419R PKD1L2_uc002fgg.1_Non-coding_Transcript NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 1419 PLAT. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TCTCTCTCTCCATCCAGGCCA 0.582000 11 5 0 0 0.000602 0 0 FBLN5 10516 broad.mit.edu 37 14 92336646 92336646 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:92336646G>A uc010aue.3 - 11 1865 c.1392C>T c.(1390-1392)atC>atT p.I464I TC2N_uc001xzv.4_5'Flank|FBLN5_uc010aud.3_Silent_p.I428I|FBLN5_uc001xzx.4_Silent_p.I423I|FBLN5_uc001xzw.3_Non-coding_Transcript NM_006329 NP_006320 Q9UBX5 FBLN5_HUMAN Homo sapiens fibulin 5 (FBLN5), mRNA. 423 cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 28 all_cancers(154;0.0722) TGTTGACAGTGATCATTTCCA 0.577000 99 52 0 0 0.003610 0 0 NLRP10 338322 broad.mit.edu 37 11 7981691 7981691 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:7981691C>T uc001mfv.1 - 1 1485 c.1468G>A c.(1468-1470)Gag>Aag p.E490K NM_176821 NP_789791 Q86W26 NAL10_HUMAN Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA. 490 ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTGCGGGACTCCTTCCCCAGC 0.498000 28 79 0 0 0.003610 0 0 SCN10A 6336 broad.mit.edu 37 3 38793931 38793931 + Nonsense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:38793931G>A uc003ciq.3 - 10 1534 c.1534C>T c.(1534-1536)Cga>Tga p.R512* NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 512 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GAGATATCTCGGCCAGGGGAC 0.587000 22 16 0 0 0.006122 0 0 SLC1A6 6511 broad.mit.edu 37 19 15075149 15075149 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:15075149C>T uc002naa.1 - 3 580 c.573G>A c.(571-573)gtG>gtA p.V191V SLC1A6_uc010dzu.1_Silent_p.V191V|SLC1A6_uc010xod.1_Silent_p.V127V|SLC1A6_uc002nab.3_Silent_p.V191V|SLC1A6_uc002nac.3_Silent_p.V191V|SLC1A6_uc002nad.1_Silent_p.V191V NM_005071 NP_005062 P48664 EAA4_HUMAN Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA. 191 synaptic transmission integral to plasma membrane|membrane fraction L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) AGCAGGCCTCCACAAGGTTTG 0.483000 201 105 0 0 0.003610 0 0 ZNF417 147687 broad.mit.edu 37 19 58420698 58420698 + Silent SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:58420698A>G uc002qqq.3 - 2 1147 c.948T>C c.(946-948)cgT>cgC p.R316R ZNF417_uc010yhm.2_Silent_p.R273R|ZNF417_uc002qqr.3_Silent_p.R315R NM_152475 NP_689688 Q8TAU3 ZN417_HUMAN Homo sapiens zinc finger protein 417 (ZNF417), mRNA. 316 R -> L (in Ref. 2; AAH25783). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R316L(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1) 18 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151) CAGTGTGAACACGCTGATGGC 0.453000 99 45 0 0 0.003610 0 0 CYFIP1 23191 broad.mit.edu 37 15 22960808 22960808 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:22960808C>T uc001yus.3 + 17 2105 c.2001C>T c.(1999-2001)tcC>tcT p.S667S CYFIP1_uc001yut.3_Silent_p.S667S|CYFIP1_uc010aya.1_Silent_p.S695S|CYFIP1_uc001yuu.3_Silent_p.S236S NM_014608 NP_055423 Q7L576 CYFP1_HUMAN Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA. 667 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome Rac GTPase binding|actin filament binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) TGCTCTACTCCCTGGACCTGT 0.602000 23 10 0 0 0.006214 0 0 ZNF587 84914 broad.mit.edu 37 19 58370728 58370728 + Silent SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:58370728T>C uc002qql.3 + 2 1174 c.948T>C c.(946-948)ctT>ctC p.L316L ZNF587_uc002qqb.2_Silent_p.L273L|ZNF587_uc002qqi.2_Silent_p.L273L|ZNF587_uc010yhh.2_Silent_p.L273L|ZNF587_uc021vco.1_Silent_p.L316L|ZNF587_uc002qqj.1_Non-coding_Transcript|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.2_Silent_p.L315L|ZNF587_uc021vcq.1_5'Flank NM_032828 NP_116217 Q96SQ5 ZN587_HUMAN Homo sapiens zinc finger protein 587 (ZNF587), transcript variant 1, mRNA. 316 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) GCCATCAGCTTGTTCACACTG 0.463000 160 4 0 0 0.010729 0 0 XKR6 286046 broad.mit.edu 37 8 10756377 10756377 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:10756377G>A uc003wtk.1 - 2 1038 c.1011C>T c.(1009-1011)tcC>tcT p.S337S NM_173683 NP_775954 Q5GH73 XKR6_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA. 337 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) GCTTGTGATAGGAGGCTAGCA 0.562000 24 69 0 0 0.003610 0 0 ACSL6 23305 broad.mit.edu 37 5 131296268 131296268 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:131296268G>A uc003kvx.2 - 18 2013 c.1904C>T c.(1903-1905)tCc>tTc p.S635F ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Missense_Mutation_p.S600F|ACSL6_uc003kvy.2_Missense_Mutation_p.S635F|ACSL6_uc003kvz.2_Missense_Mutation_p.S535F|ACSL6_uc021ydh.1_Missense_Mutation_p.S535F|ACSL6_uc010jdo.2_Missense_Mutation_p.S610F|ACSL6_uc003kwa.2_Missense_Mutation_p.S621F|ACSL6_uc003kvw.2_Missense_Mutation_p.S256F|ACSL6_uc010jdn.2_Missense_Mutation_p.S625F NM_015256 NP_001192177 Q9UKU0 ACSL6_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA. 610 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTGGGCCCAGGAGGGCATAAC 0.453000 41 18 0 0 0.007413 0 0 FBXO40 51725 broad.mit.edu 37 3 121340369 121340369 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:121340369C>T uc003eeg.2 + 2 303 c.93C>T c.(91-93)acC>acT p.T31T NM_016298 NP_057382 Q9UH90 FBX40_HUMAN Homo sapiens F-box protein 40 (FBXO40), mRNA. 31 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) AACCCAACACCTCCTGCCTGG 0.597000 55 32 0 0 0.009535 0 0 DHRS1 115817 broad.mit.edu 37 14 24766036 24766036 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:24766036C>T uc001woj.2 - 2 471 c.202G>A c.(202-204)Gag>Aag p.E68K HP08474_uc021rro.1_Intron|DHRS1_uc010aln.2_5'Flank|DHRS1_uc001wok.3_Missense_Mutation_p.E68K NM_138452 NP_612461 Q96LJ7 DHRS1_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) member 1 (DHRS1), transcript variant 2, mRNA. 68 endoplasmic reticulum binding|oxidoreductase activity cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442) ACTTCACTCTCCTGGCTTGAA 0.547000 OREG0022622 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 20 0 0 0.008871 0 0 SLC10A6 345274 broad.mit.edu 37 4 87744896 87744897 + Missense_Mutation DNP GG AA AA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:87744896_87744897GG>AA uc003hqd.2 - 5 1226_1227 c.1078_1079CC>TT c.(1078-1080)cca>TTa p.P360L NM_197965 NP_932069 Q3KNW5 SOAT_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA. 360 integral to membrane|plasma membrane bile acid:sodium symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 9 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.00099) GCAATCCATTGGCCCTGGTGGC 0.545000 26 20 0 0 0.004672 0 0 DEPDC5 9681 broad.mit.edu 37 22 32193655 32193655 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:32193655C>T uc011alu.2 + 12 1039 c.837C>T c.(835-837)atC>atT p.I279I DEPDC5_uc011als.2_Silent_p.I279I|DEPDC5_uc003als.3_Silent_p.I279I|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.I279I|DEPDC5_uc003alr.2_Silent_p.I279I|DEPDC5_uc011alt.2_Silent_p.I251I NM_001242896 NP_001229825 O75140 DEPD5_HUMAN Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA. 279 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 AACTCTTCATCCAGTATCCAG 0.443000 28 11 0 0 0.010729 0 0 C15orf23 90417 broad.mit.edu 37 15 40675107 40675107 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:40675107C>T uc001zll.3 + 0 186 c.71C>T c.(70-72)tCc>tTc p.S24F C15orf23_uc001zlo.3_Missense_Mutation_p.S24F|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.S24F NM_033286 NP_150628 Q9Y448 T4AF1_HUMAN Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA. 24 nucleus protein binding p.S24F(2) central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 14 all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798) GAGTGCGATTCCCACCCACTT 0.567000 30 23 0 0 0.002780 0 0 HSF1 3297 broad.mit.edu 37 8 145535489 145535489 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:145535489C>T uc003zbt.4 + 7 997 c.827C>T c.(826-828)cCc>cTc p.P276L HSF1_uc003zbu.4_Non-coding_Transcript NM_005526 NP_005517 Q00613 HSF1_HUMAN Homo sapiens heat shock transcription factor 1 (HSF1), mRNA. 276 Regulatory domain. cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) CCTGCCAGCCCCATGGCCTCC 0.687000 9 33 0 0 0.003271 0 0 SALL1 6299 broad.mit.edu 37 16 51171159 51171159 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:51171159C>T uc021tif.1 - 2 3870 c.3548G>A c.(3547-3549)gGa>gAa p.G1183E SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Missense_Mutation_p.G132E NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 1280 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CTCCAGGTTTCCCGTCAGCCC 0.582000 41 20 0 0 0.002299 0 0 SCN11A 11280 broad.mit.edu 37 3 38888478 38888478 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:38888478C>T uc021wvy.1 - 25 5282 c.5083G>A c.(5083-5085)Ggt>Agt p.G1695S NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 1695 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) TCAGAGCCACCGAGTACCCTA 0.453000 59 38 0 0 0.004878 0 0 APCDD1 147495 broad.mit.edu 37 18 10468492 10468492 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr18:10468492C>T uc002kom.4 + 1 439 c.85C>T c.(85-87)Cat>Tat p.H29Y NM_153000 NP_694545 Q8J025 APCD1_HUMAN Homo sapiens adenomatosis polyposis coli down-regulated 1 (APCDD1), mRNA. 29 Wnt receptor signaling pathway|hair follicle development|negative regulation of Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 READ - Rectum adenocarcinoma(15;0.08) TGCCCTCCTTCATCCAGACAG 0.488000 119 63 0 0 0.003610 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72057130 72057130 + Silent SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:72057130T>C uc001swo.2 - 0 620 c.261A>G c.(259-261)tcA>tcG p.S87S ZFC3H1_uc010sts.2_Silent_p.S87S|ZFC3H1_uc001swp.3_Silent_p.S87S|THAP2_uc001swq.3_5'Flank NM_144982 NP_659419 O60293 ZC3H1_HUMAN Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA. 87 Ser-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GCCGCGAGCGTGAGAAATTCC 0.652000 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 81 44 0 0 0.013114 0 0 ROBO1 6091 broad.mit.edu 37 3 78796020 78796020 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:78796020G>A uc003dqe.2 - 4 738 c.530C>T c.(529-531)tCg>tTg p.S177L ROBO1_uc003dqc.2_Missense_Mutation_p.S138L|ROBO1_uc003dqd.2_Missense_Mutation_p.S138L|ROBO1_uc003dqb.2_Missense_Mutation_p.S138L NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA. 177 Ig-like C2-type 2. Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis cell surface|cytoplasm|integral to plasma membrane LRR domain binding|axon guidance receptor activity|identical protein binding p.S177*(3)|p.S177L(1)|p.S138*(1)|p.S154*(1)|p.S154L(1)|p.S138L(1) breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) CATGACATCCGAAGGGTTTTG 0.458000 29 15 0 0 0.004007 0 0 NOBOX 135935 broad.mit.edu 37 7 144098436 144098436 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:144098436C>T uc022aoj.1 - 3 547 c.547G>A c.(547-549)Gaa>Aaa p.E183K NM_001080413 NP_001073882 O60393 NOBOX_HUMAN Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA. 183 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) GAACAATCTTCCCCCTGAGTC 0.627000 23 12 0 0 0.002450 0 0 IL1RL1 9173 broad.mit.edu 37 2 102955374 102955374 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:102955374G>A uc002tbu.1 + 2 410 c.139G>A c.(139-141)Gat>Aat p.D47N IL1RL1_uc010ywa.2_Intron|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.D47N NM_016232 NP_057316 Q01638 ILRL1_HUMAN Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA. 47 Ig-like C2-type 1. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 TTACACCGTGGATTGGTATTA 0.403000 74 57 0 0 0.003610 0 0 KCNK2 3776 broad.mit.edu 37 1 215345525 215345525 + Splice_Site SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:215345525A>G uc001hkq.3 + 5 992 c.823_splice c.e5+1 p.G275_splice KCNK2_uc001hko.3_Splice_Site_p.G271_splice|KCNK2_uc009xdm.3_Intron|KCNK2_uc001hkp.3_Splice_Site|KCNK2_uc010pua.1_Splice_Site|KCNK2_uc001hkr.4_Splice_Site_p.G260_splice NM_001017425 NP_001017425 O95069 KCNK2_HUMAN Homo sapiens potassium channel, subfamily K, member 2 (KCNK2), transcript variant 3, mRNA. 275 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) ACTACGTTGCAGGTAAGCTTT 0.398000 97 25 0 0 0.008361 0 0 C1R 715 broad.mit.edu 37 12 7188163 7188164 + Missense_Mutation DNP CC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:7188163_7188164CC>TT uc010sfy.2 - 8 1615_1616 c.1556_1557GG>AA c.(1555-1557)ggg>gAA p.G519E NM_001733 NP_001724 P00736 C1R_HUMAN Homo sapiens complement component 1, r subcomponent (C1R), mRNA. 597 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CCTCCATGACCCCGAAGCCACT 0.554000 23 15 0 0 0.004672 0 0 PYGL 5836 broad.mit.edu 37 14 51378932 51378932 + Missense_Mutation SNP C G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:51378932C>G uc001wyu.3 - 13 1837 c.1710G>C c.(1708-1710)agG>agC p.R570S PYGL_uc010tqq.2_Missense_Mutation_p.R536S NM_002863 NP_002854 P06737 PYGL_HUMAN Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA. 570 R -> S (in Ref. 2; AAC17450). glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3) 25 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) ACTCATGTATCCTCTTCACCT 0.478000 139 8 0 0 0.004482 0 0 DNAH5 1767 broad.mit.edu 37 5 13864514 13864514 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:13864514C>T uc003jfd.2 - 27 4630 c.4588G>A c.(4588-4590)Gaa>Aaa p.E1530K NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1530 Stem (By similarity). 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) ACCTCTATTTCCTCTTTATAT 0.383000 Kartagener syndrome 44 23 0 0 0.006320 0 0 DAB1 1600 broad.mit.edu 37 1 57535066 57535066 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:57535066G>A uc009vzx.1 - 7 950 c.630C>T c.(628-630)atC>atT p.I210I DAB1_uc001cyt.1_Silent_p.I210I|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc001cys.1_Silent_p.I210I NM_021080 NP_066566 O75553 DAB1_HUMAN Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA. 210 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 CGGGATCACGGATTGGCTCGT 0.413000 44 23 0 0 0.003954 0 0 DYSF 8291 broad.mit.edu 37 2 71838413 71838413 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:71838413G>A uc010fen.3 + 36 4137 c.3996G>A c.(3994-3996)agG>agA p.R1332R DYSF_uc010fei.3_Silent_p.R1331R|DYSF_uc010feh.3_Silent_p.R1300R|DYSF_uc002sig.4_Silent_p.R1300R|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.R1345R|DYSF_uc010fee.3_Silent_p.R1314R|DYSF_uc010fef.3_Silent_p.R1331R|DYSF_uc002sie.3_Silent_p.R1314R|DYSF_uc010feo.3_Silent_p.R1346R|DYSF_uc010fej.3_Silent_p.R1301R|DYSF_uc010fel.3_Silent_p.R1301R|DYSF_uc010fem.3_Silent_p.R1315R|DYSF_uc002sif.3_Silent_p.R1315R|DYSF_uc010fek.3_Silent_p.R1332R|DYSF_uc010yqy.2_Silent_p.R195R|DYSF_uc010yqz.2_Silent_p.R54R NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 1314 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CACCCCAGAGGGAGGCCAACA 0.597000 13 8 0 0 0.008291 0 0 MAP2 4133 broad.mit.edu 37 2 210517993 210517993 + Missense_Mutation SNP T G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:210517993T>G uc002vde.1 + 3 347 c.99T>G c.(97-99)gaT>gaG p.D33E MAP2_uc002vdc.1_Missense_Mutation_p.D33E|MAP2_uc002vdd.1_Missense_Mutation_p.D33E|MAP2_uc002vdf.1_Missense_Mutation_p.D33E|MAP2_uc002vdg.1_Missense_Mutation_p.D33E|MAP2_uc002vdh.1_Missense_Mutation_p.D33E|MAP2_uc002vdi.1_Missense_Mutation_p.D33E NM_002374 NP_002365 P11137 MAP2_HUMAN Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA. 33 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AGATTAAGGATCAAGGCGGAG 0.547000 28 17 0 0 0.004990 0 0 RP1L1 94137 broad.mit.edu 37 8 10464599 10464599 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:10464599C>T uc003wtc.3 - 3 7238 c.7009G>A c.(7009-7011)Gag>Aag p.E2337K NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 2337 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GCCTTCCTCTCTGCATGAGGG 0.547000 50 137 0 0 0.003610 0 0 SLC22A9 114571 broad.mit.edu 37 11 63149655 63149655 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:63149655G>A uc001nww.3 + 5 1247 c.979G>A c.(979-981)Gaa>Aaa p.E327K SLC22A9_uc001nwx.3_Non-coding_Transcript NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA. 327 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CATGAAAAAAGAACTGGAGGC 0.418000 28 102 0 0 0.003610 0 0 NUB1 51667 broad.mit.edu 37 7 151053246 151053246 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:151053246C>T uc003wjx.3 + 6 719 c.703C>T c.(703-705)Ccg>Tcg p.P235S NUB1_uc003wjw.3_Missense_Mutation_p.P211S|NUB1_uc003wjy.3_Non-coding_Transcript|NUB1_uc011kvj.1_Intron NM_001243351 NP_001230280 Q9Y5A7 NUB1_HUMAN Homo sapiens negative regulator of ubiquitin-like proteins 1 (NUB1), transcript variant 1, mRNA. 211 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process nucleus protein binding endometrium(1)|large_intestine(7)|lung(3) 11 OV - Ovarian serous cystadenocarcinoma(82;0.00569) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) AGAAATGACACCGTACTTAGA 0.403000 33 17 0 0 0.006122 0 0 ALOX12B 242 broad.mit.edu 37 17 7989535 7989535 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:7989535C>T uc002gjy.1 - 1 412 c.151G>A c.(151-153)Ggc>Agc p.G51S MIR4314_uc021tpn.1_5'Flank NM_001139 NP_001130 O75342 LX12B_HUMAN Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA. 51 PLAT. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 GTGTACTGGCCCACCTAGGCA 0.647000 Multiple Myeloma(8;0.094) 12 8 0 0 0.004482 0 0 ATL3 25923 broad.mit.edu 37 11 63396854 63396855 + Missense_Mutation DNP GG AA AA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:63396854_63396855GG>AA uc001nxk.1 - 12 1838_1839 c.1562_1563CC>TT c.(1561-1563)tcc>tTT p.S521F ATL3_uc010rms.1_Missense_Mutation_p.S503F|DQ593252_uc001nxj.1_5'Flank|ATL3_uc010rmr.1_Missense_Mutation_p.S179F NM_015459 NP_056274 Q6DD88 ATLA3_HUMAN Homo sapiens atlastin GTPase 3 (ATL3), mRNA. 521 Golgi organization|endoplasmic reticulum organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 11 TGGCCTGAGTGGAATTACCGAT 0.371000 12 18 0 0 0.004672 0 0 FCGBP 8857 broad.mit.edu 37 19 40398331 40398331 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:40398331C>T uc002omp.4 - 13 6644 c.6636G>A c.(6634-6636)ggG>ggA p.G2212G NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 2212 VWFD 5. 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) GGTTGTAGTTCCCGCATAAGC 0.692000 28 21 0 0 0.003271 0 0 SH2D3A 10045 broad.mit.edu 37 19 6763733 6763733 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:6763733G>A uc002mft.3 - 1 221 c.27C>T c.(25-27)gaC>gaT p.D9D SH2D3A_uc010xjg.2_Missense_Mutation_p.T4I NM_005490 NP_005481 Q9BRG2 SH23A_HUMAN Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA. 9 JNK cascade|small GTPase mediated signal transduction intracellular SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1) 24 GGCCAGCAAGGTCTTCTCCAT 0.602000 39 23 0 0 0.009535 0 0 SSPO 23145 broad.mit.edu 37 7 149513089 149513089 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:149513089G>A uc010lpk.3 + 76 10983 c.10983G>A c.(10981-10983)ggG>ggA p.G3661G NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 3664 TSP type-1 15. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GTGGGGGCGGGGAGCAGCTGC 0.687000 2 7 0 0 0.001984 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47236441 47236441 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:47236441G>A uc002ion.2 + 5 780 c.721G>A c.(721-723)Gat>Aat p.D241N B4GALNT2_uc010wlt.1_Missense_Mutation_p.D155N|B4GALNT2_uc010wlu.1_Missense_Mutation_p.D181N NM_153446 NP_001152860 Q8NHY0 B4GN2_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA. 241 UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) CACCCTTGCTGATGTCCCAGA 0.517000 138 57 0 0 0.003610 0 0 CTDP1 9150 broad.mit.edu 37 18 77477837 77477837 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr18:77477837C>T uc002lnh.2 + 9 2385 c.2238C>T c.(2236-2238)gaC>gaT p.D746D CTDP1_uc002lni.2_Silent_p.D746D|CTDP1_uc010drd.2_Silent_p.D746D|CTDP1_uc021ult.1_Silent_p.D627D NM_004715 NP_001189433 Q9Y5B0 CTDP1_HUMAN Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA. 746 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1) 35 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) CCTTTCCCGACCGGGAGGGTG 0.672000 41 21 0 0 0.002780 0 0 CDH23 64072 broad.mit.edu 37 10 73545396 73545396 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:73545396C>T uc001jrx.4 + 41 6102 c.5712C>T c.(5710-5712)atC>atT p.I1904I NM_022124 NP_071407 Q9H251 CAD23_HUMAN Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA. 1907 Cadherin 18. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding p.A1903V(1) NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 AGACAGGGATCGTCACTGTGA 0.582000 8 3 0 0 0.004672 0 0 ATP11C 286410 broad.mit.edu 37 X 138878601 138878601 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:138878601G>A uc004faz.3 - 11 1145 c.1046C>T c.(1045-1047)tCa>tTa p.S349L ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.S349L NM_173694 NP_775965 Q8NB49 AT11C_HUMAN Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA. 349 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) AACCATAAATGATAGGAAGTC 0.333000 12 43 0 0 0.003610 0 0 FBN2 2201 broad.mit.edu 37 5 127599332 127599332 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:127599332G>A uc003kuu.3 - 62 8416 c.7977C>T c.(7975-7977)tcC>tcT p.S2659S NM_001999 NP_001990 P35556 FBN2_HUMAN Homo sapiens fibrillin 2 (FBN2), mRNA. 2659 EGF-like 46; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CATTGGGATTGGAGCATTCAT 0.522000 21 18 0 0 0.007413 0 0 ZNF200 7752 broad.mit.edu 37 16 3273957 3273957 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:3273957G>A uc002cuj.2 - 4 1755 c.1123C>T c.(1123-1125)Cgg>Tgg p.R375W ZNF200_uc002cum.3_Missense_Mutation_p.R374W|ZNF200_uc002cuk.2_Missense_Mutation_p.R375W|ZNF200_uc010bti.2_Missense_Mutation_p.R374W|ZNF200_uc002cui.2_Missense_Mutation_p.R374W|ZNF200_uc002cul.3_Missense_Mutation_p.R374W NM_003454 NP_932354 P98182 ZN200_HUMAN Homo sapiens zinc finger protein 200 (ZNF200), transcript variant 1, mRNA. 375 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.G374A(1) breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 17 TTTGACAGCCGACCAAATCTT 0.488000 192 122 0 0 0.003610 0 0 DENND3 22898 broad.mit.edu 37 8 142151389 142151389 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:142151389C>T uc003yvy.3 + 3 627 c.349C>T c.(349-351)Ccc>Tcc p.P117S DENND3_uc003yvw.1_Missense_Mutation_p.P130S|DENND3_uc003yvx.3_Silent_p.F195F|DENND3_uc010mep.3_Missense_Mutation_p.P130S NM_014957 NP_055772 A2RUS2 DEND3_HUMAN Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA. 117 DENN. p.P117S(2) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CTCCAGGTTTCCCTATTACAA 0.587000 22 75 0 0 0.003610 0 0 FAM83F 113828 broad.mit.edu 37 22 40417943 40417943 + Missense_Mutation SNP G A A rs41276305 byFrequency TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:40417943G>A uc003ayk.1 + 3 1523 c.1429G>A c.(1429-1431)Gag>Aag p.E477K NM_138435 NP_612444 Q8NEG4 FA83F_HUMAN Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA. 477 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 GAGGCCCAACGAGAATTCCAG 0.642000 36 21 0 0 0.012319 0 0 CD3D 915 broad.mit.edu 37 11 118211302 118211302 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:118211302G>A uc001pss.1 - 1 199 c.62C>T c.(61-63)cCc>cTc p.P21L CD3D_uc001pst.1_Missense_Mutation_p.P21L|CD3D_uc021qrf.1_Intron NM_000732 NP_000723 P04234 CD3D_HUMAN Homo sapiens CD3d molecule, delta (CD3-TCR complex) (CD3D), transcript variant 1, mRNA. 21 T cell costimulation|T cell receptor signaling pathway|positive thymic T cell selection cytoplasm|integral to membrane protein heterodimerization activity large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 9 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;3.04e-05) TATCTTGAAGGGGCTCACTAA 0.458000 16 23 0 0 0.002780 0 0 TRIM42 287015 broad.mit.edu 37 3 140407033 140407033 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:140407033C>T uc003eto.2 + 2 1715 c.1509C>T c.(1507-1509)tcC>tcT p.S503S NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN Homo sapiens tripartite motif containing 42 (TRIM42), mRNA. 503 intracellular zinc ion binding 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 CAGGGGACTCCCTGCCCTCCC 0.557000 36 23 0 0 0.012319 0 0 PDE4D 5144 broad.mit.edu 37 5 58511757 58511757 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:58511757G>A uc003jsa.2 - 1 665 c.493C>T c.(493-495)Ccc>Tcc p.P165S PDE4D_uc003jrx.2_Missense_Mutation_p.P29S|PDE4D_uc003jry.3_5'UTR|PDE4D_uc003jrz.3_Missense_Mutation_p.P101S|PDE4D_uc003jsb.3_Missense_Mutation_p.P104S|PDE4D_uc003jsc.3_Missense_Mutation_p.P101S|PDE4D_uc003jrv.2_Missense_Mutation_p.P35S|PDE4D_uc003jrw.2_Missense_Mutation_p.P43S|PDE4D_uc010iwi.1_5'UTR NM_001104631 NP_001098101 Q08499 PDE4D_HUMAN Homo sapiens phosphodiesterase 4D, cAMP-specific (PDE4D), transcript variant 1, mRNA. 165 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) GGATCCAAGGGACTCCGTCCC 0.473000 20 5 0 0 0.000602 0 0 CLPSL2 389383 broad.mit.edu 37 6 35747191 35747191 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:35747191G>A uc003olc.1 + 3 350 c.346G>A c.(346-348)Gga>Aga p.G116R CLPSL2_uc010jvz.1_Silent_p.K89K|CLPSL1_uc003old.4_5'Flank Q6UWE3 CF126_HUMAN Homo sapiens chromosome 6 open reading frame 126 (C6orf126), mRNA. 0 digestion|lipid catabolic process extracellular region enzyme activator activity GCATATCCAAGGACTTGATGT 0.567000 7 5 0 0 0.000602 0 0 ZFY 7544 broad.mit.edu 37 Y 2847288 2847288 + Nonsense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrY:2847288C>T uc004fqj.3 + 7 1981 c.1660C>T c.(1660-1662)Cga>Tga p.R554* ZFY_uc011nan.2_Nonsense_Mutation_p.R363*|ZFY_uc010nwe.3_Nonsense_Mutation_p.R477* NM_003411 NP_003402 P08048 ZFY_HUMAN Homo sapiens zinc finger protein, Y-linked (ZFY), transcript variant 1, mRNA. 554 R -> S (in Ref. 7). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3) 8 TAAAGGTTTCCGACACCCGTC 0.473000 14 39 0 0 0.008740 0 0 GLG1 2734 broad.mit.edu 37 16 74496043 74496043 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:74496043G>A uc002fcx.3 - 21 3035 c.2985C>T c.(2983-2985)tcC>tcT p.S995S GLG1_uc002fcw.4_Silent_p.S984S|GLG1_uc002fcy.4_Silent_p.S995S|GLG1_uc002fcz.4_Silent_p.S412S NM_012201 NP_036333 Q92896 GSLG1_HUMAN Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA. 995 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 AGTCCAGGGCGGACTCCTGGA 0.532000 53 28 0 0 0.008361 0 0 MYO18B 84700 broad.mit.edu 37 22 26388449 26388449 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:26388449G>A uc003abz.1 + 39 6527 c.6277G>A c.(6277-6279)Gat>Aat p.D2093N MYO18B_uc003aca.1_Missense_Mutation_p.D1974N|MYO18B_uc010guy.1_Missense_Mutation_p.D1975N|MYO18B_uc010guz.1_Missense_Mutation_p.D1973N|MYO18B_uc011aka.1_Missense_Mutation_p.D1247N|MYO18B_uc011akb.1_Missense_Mutation_p.D1606N|MYO18B_uc010gva.1_Missense_Mutation_p.D91N NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 2093 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 CAGTGACAGTGATACTGAGAG 0.622000 19 16 0 0 0.007413 0 0 PHTF1 10745 broad.mit.edu 37 1 114252914 114252914 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:114252914C>T uc009wgp.1 - 9 1683 c.1231G>A c.(1231-1233)Ggg>Agg p.G411R PHTF1_uc001edn.3_Missense_Mutation_p.G411R|PHTF1_uc001edm.2_Missense_Mutation_p.G168R|PHTF1_uc001edo.1_Missense_Mutation_p.G168R NM_006608 NP_006599 Q9UMS5 PHTF1_HUMAN Homo sapiens putative homeodomain transcription factor 1 (PHTF1), mRNA. 411 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CGTTTGGTCCCTGAGTGAAGG 0.498000 34 14 0 0 0.004007 0 0 UQCRFS1 7386 broad.mit.edu 37 19 29699056 29699056 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:29699056G>A uc002nsd.2 - 1 335 c.224C>T c.(223-225)tCt>tTt p.S75F NM_006003 NP_005994 P47985 UCRI_HUMAN Homo sapiens ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 (UQCRFS1), nuclear gene encoding mitochondrial protein, mRNA. 75 respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex III 2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Breast(6;0.0545)|Esophageal squamous(110;0.239) Lung(7;0.092) ATAACAAACAGAAGCAGGGAC 0.428000 44 28 0 0 0.010818 0 0 ACOX3 8310 broad.mit.edu 37 4 8411951 8411951 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:8411951G>A uc010idk.3 - 5 820 c.675C>T c.(673-675)ccC>ccT p.P225P ACOX3_uc003glc.4_Silent_p.P225P|ACOX3_uc003gld.4_Silent_p.P225P NM_003501 NP_003492 O15254 ACOX3_HUMAN Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA. 225 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42 GCACGATAAAGGGATGCAGCC 0.562000 21 8 0 0 0.006214 0 0 HLA-DMB 3109 broad.mit.edu 37 6 32902752 32902752 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:32902752G>A uc003ocl.2 - 5 1051 c.788C>T c.(787-789)tCc>tTc p.S263F HLA-DMB_uc003ock.2_Non-coding_Transcript|HLA-DMB_uc010jud.2_Missense_Mutation_p.S120F|HLA-DMB_uc010jue.2_Missense_Mutation_p.S93F|HLA-DMB_uc010juf.2_Missense_Mutation_p.S81F|HLA-DMB_uc003ocj.2_3'UTR NM_002118 NP_002109 P28068 DMB_HUMAN Homo sapiens major histocompatibility complex, class II, DM beta (HLA-DMB), mRNA. 263 T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway MHC class II protein complex|integral to membrane|late endosome membrane|lysosomal membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 CTGCCTCTAGGAAATGTGCCA 0.438000 15 29 0 0 0.010818 0 0 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45218332 45218333 + Missense_Mutation DNP CC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:45218332_45218333CC>TT uc003bfd.3 + 10 1375_1376 c.1098_1099CC>TT c.(1096-1101)atccct>atTTct p.P367S PRR5-ARHGAP8_uc011aqi.2_Missense_Mutation_p.P279S|PRR5-ARHGAP8_uc011aqj.2_Missense_Mutation_p.P193S|PRR5-ARHGAP8_uc003bfi.3_Missense_Mutation_p.P157S|PRR5-ARHGAP8_uc010gzv.3_Missense_Mutation_p.P157S|PRR5-ARHGAP8_uc003bfj.3_Missense_Mutation_p.P188S|PRR5-ARHGAP8_uc003bfk.3_Missense_Mutation_p.P157S|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript NM_181335 NP_851852 Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA. p.R366Q(1) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8) 30 AGCTGGTCATCCCTCCCGAAGT 0.465000 44 25 0 0 0.004672 0 0 RPTN 126638 broad.mit.edu 37 1 152129266 152129266 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:152129266C>T uc001ezs.1 - 2 374 c.309G>A c.(307-309)agG>agA p.R103R NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN Homo sapiens repetin (RPTN), mRNA. 103 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 CTTCCTGCCCCCTTTCTTGCT 0.502000 119 189 0 0 0.003610 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94670742 94670742 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:94670742G>A uc001dqj.4 - 6 941 c.572C>T c.(571-573)cCt>cTt p.P191L ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Missense_Mutation_p.P191L NM_004815 NP_004806 Q52LW3 RHG29_HUMAN Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA. 191 Rho protein signal transduction cytosol Rho GTPase activator activity|metal ion binding NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TAGTTCTAAAGGGGAAAAATT 0.333000 24 8 0 0 0.004482 0 0 GABRE 2564 broad.mit.edu 37 X 151124192 151124193 + Missense_Mutation DNP GG AA AA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:151124192_151124193GG>AA uc004ffi.3 - 6 978_979 c.924_925CC>TT c.(922-927)gcccgg>gcTTgg p.R309W GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank NM_004961 NP_004952 P78334 GBRE_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA. 309 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) AGAGAGGTCCGGGCTGGAGCAG 0.525000 16 83 0 0 0.004672 0 0 SLC6A13 6540 broad.mit.edu 37 12 333250 333250 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:333250G>A uc001qic.2 - 10 1309 c.1219C>T c.(1219-1221)Cct>Tct p.P407S SLC6A13_uc009zdj.2_Missense_Mutation_p.P397S|SLC6A13_uc010sdl.2_Missense_Mutation_p.P315S NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA. 407 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) AACACGTGAGGGTACATGTCC 0.562000 32 16 0 0 0.004990 0 0 RASA3 22821 broad.mit.edu 37 13 114773066 114773066 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr13:114773066G>A uc001vui.3 - 17 1816 c.1685C>T c.(1684-1686)tCg>tTg p.S562L RASA3_uc010tkk.2_Missense_Mutation_p.S530L|RASA3_uc001vuj.3_Missense_Mutation_p.S179L NM_007368 NP_031394 Q14644 RASA3_HUMAN Homo sapiens RAS p21 protein activator 3 (RASA3), mRNA. 562 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|calcium-release channel activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) CCCCGAGGACGAAATCAGATC 0.552000 10 23 0 0 0.003330 0 0 ZNF99 7652 broad.mit.edu 37 19 22941195 22941195 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:22941195C>T uc021urt.1 - 3 1671 c.1516G>A c.(1516-1518)Gag>Aag p.E506K NM_001080409 NP_001073878 Homo sapiens zinc finger protein 99 (ZNF99), mRNA. NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CAAGGTTTCTCTTCCATATGA 0.348000 33 22 0 0 0.002299 0 0 ABCC1 4363 broad.mit.edu 37 16 16162084 16162084 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:16162084C>T uc010bvi.3 + 12 1924 c.1749C>T c.(1747-1749)ttC>ttT p.F583F ABCC1_uc010bvj.3_Silent_p.F583F|ABCC1_uc010bvk.3_Silent_p.F583F|ABCC1_uc010bvl.3_Silent_p.F583F|ABCC1_uc010bvm.3_Silent_p.F583F|ABCC1_uc002del.4_Silent_p.F467F|ABCC1_uc021tdq.1_Intron|ABCC1_uc021tdr.1_Intron NM_004996 NP_004987 P33527 MRP1_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA. 583 ABC transmembrane type-1 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) AGACAGCCTTCGTGTCTTTGG 0.562000 57 44 0 0 0.003610 0 0 SLX4 84464 broad.mit.edu 37 16 3639432 3639432 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:3639432C>T uc002cvp.2 - 11 4834 c.4207G>A c.(4207-4209)Gag>Aag p.E1403K NM_032444 NP_115820 Q8IY92 SLX4_HUMAN Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA. 1403 Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 GAGGCCACCTCCTGCTCATCG 0.617000 Direct reversal of damage 59 40 0 0 0.006999 0 0 C3 718 broad.mit.edu 37 19 6702583 6702583 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:6702583C>T uc002mfm.3 - 17 2315 c.2253G>A c.(2251-2253)ctG>ctA p.L751L NM_000064 NP_000055 P01024 CO3_HUMAN Homo sapiens complement component 3 (C3), mRNA. 751 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) TGTCCTCATCCAGGTTACCTG 0.517000 48 35 0 0 0.006999 0 0 SCAMP5 192683 broad.mit.edu 37 15 75310285 75310285 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:75310285C>T uc002azn.2 + 4 555 c.368C>T c.(367-369)gCc>gTc p.A123V SCAMP5_uc002azl.2_Missense_Mutation_p.A123V|SCAMP5_uc002azm.2_Missense_Mutation_p.A123V|SCAMP5_uc002azk.2_Missense_Mutation_p.A123V|SCAMP5_uc010uly.2_Missense_Mutation_p.A52V NM_138967 NP_620417 Q8TAC9 SCAM5_HUMAN Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA. 123 exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane protein binding large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 5 ATCATCCAGGCCGTGGGCATC 0.587000 60 40 0 0 0.003610 0 0 SUPT6H 6830 broad.mit.edu 37 17 27023944 27023945 + Nonsense_Mutation DNP CC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:27023944_27023945CC>TT uc010crt.3 + 30 4245_4246 c.4053_4054CC>TT c.(4051-4056)gaccag>gaTTag p.Q1352* SUPT6H_uc002hby.3_Nonsense_Mutation_p.Q1352* NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA. 1352 SH2. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) AGACCATGGACCAGGGTGATGT 0.485000 53 22 0 0 0.004672 0 0 ZNF821 55565 broad.mit.edu 37 16 71898924 71898924 + Missense_Mutation SNP G C C rs139528518 byFrequency TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:71898924G>C uc010vmj.2 - 3 602 c.194C>G c.(193-195)aCg>aGg p.T65R ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.3_5'UTR|ZNF821_uc002fbf.3_Missense_Mutation_p.T23R|ZNF821_uc021tlb.1_Missense_Mutation_p.T65R|ZNF821_uc021tlc.1_Missense_Mutation_p.T65R|ZNF821_uc002fbh.4_Missense_Mutation_p.T23R|ZNF821_uc002fbg.4_Intron NM_001201553 NP_001188482 O75541 ZN821_HUMAN Homo sapiens zinc finger protein 821 (ZNF821), transcript variant 2, mRNA. 65 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T23M(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2) 13 ATCTTGTGTCGTCTCCTCTTC 0.473000 87 54 0 0 0.003610 0 0 APOL1 8542 broad.mit.edu 37 22 36661318 36661318 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:36661318C>T uc003ape.3 + 6 758 c.484C>T c.(484-486)Cgg>Tgg p.R162W APOL1_uc011amn.1_Missense_Mutation_p.R23W|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Missense_Mutation_p.R23W|APOL1_uc003apf.3_Missense_Mutation_p.R146W|APOL1_uc011amp.2_Missense_Mutation_p.R146W|APOL1_uc011amq.2_Missense_Mutation_p.R128W|APOL1_uc010gwx.3_Missense_Mutation_p.R23W NM_145343 NP_003652 O14791 APOL1_HUMAN Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA. 146 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding p.R162L(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 14 AGAGTTTCCTCGGTTGAAAAG 0.468000 44 28 0 0 0.006320 0 0 TNXB 7148 broad.mit.edu 37 6 32023901 32023901 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:32023901C>T uc003nzl.2 - 23 8396 c.8194G>A c.(8194-8196)Gag>Aag p.E2732K NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 2790 Fibronectin type-III 19. 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 TCAGGGGGCTCCGGGGCCTCA 0.642000 385 137 0 0 0.003610 0 0 STAC2 342667 broad.mit.edu 37 17 37371268 37371268 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:37371268C>T uc002hrs.3 - 5 993 c.708G>A c.(706-708)cgG>cgA p.R236R STAC2_uc010cvt.3_Silent_p.R94R NM_198993 NP_945344 Q6ZMT1 STAC2_HUMAN Homo sapiens SH3 and cysteine rich domain 2 (STAC2), mRNA. 236 intracellular signal transduction metal ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2) 17 TCAGCTCATCCCGCTCACTCT 0.627000 153 55 0 0 0.003610 0 0 MYO18B 84700 broad.mit.edu 37 22 26423113 26423113 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:26423113G>A uc003abz.1 + 42 7423 c.7173G>A c.(7171-7173)gtG>gtA p.V2391V MYO18B_uc003aca.1_Silent_p.V2272V|MYO18B_uc010guy.1_Silent_p.V2273V|MYO18B_uc010guz.1_Silent_p.V2271V|MYO18B_uc011aka.1_Silent_p.V1545V|MYO18B_uc011akb.1_Silent_p.V1904V|MYO18B_uc010gva.1_Silent_p.V374V|MYO18B_uc010gvb.1_Non-coding_Transcript NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 2391 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 AGTCCTCTGTGGACGATGCGG 0.597000 57 35 0 0 0.003271 0 0 CCDC33 80125 broad.mit.edu 37 15 74588137 74588137 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:74588137C>T uc002axo.3 + 10 1532 c.1138C>T c.(1138-1140)Cct>Tct p.P380S CCDC33_uc002axp.3_Missense_Mutation_p.P202S NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA. 583 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CAAGGCTCTTCCTACCTTGGA 0.512000 53 22 0 0 0.003954 0 0 PCSK2 5126 broad.mit.edu 37 20 17462516 17462516 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:17462516G>A uc002wpm.3 + 11 2072 c.1718G>A c.(1717-1719)gGa>gAa p.G573E PCSK2_uc002wpl.3_Missense_Mutation_p.G554E|PCSK2_uc010zrm.2_Missense_Mutation_p.G538E|PCSK2_uc002wpn.3_Missense_Mutation_p.G227E NM_002594 NP_001188457 P16519 NEC2_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA. 573 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTGGAGCTGGGATTTGTCGGC 0.627000 21 11 0 0 0.008291 0 0 DMP1 1758 broad.mit.edu 37 4 88583737 88583737 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:88583737G>A uc003hqv.3 + 5 911 c.807G>A c.(805-807)agG>agA p.R269R DMP1_uc003hqw.3_Silent_p.R253R NM_004407 NP_004398 Q13316 DMP1_HUMAN Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA. 269 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) AAATTTTTAGGAAGTCTCGCA 0.438000 16 17 0 0 0.006122 0 0 HSD17B2 3294 broad.mit.edu 37 16 82131868 82131868 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:82131868G>A uc002fgv.3 + 4 1163 c.991G>A c.(991-993)Gcg>Acg p.A331T NM_002153 NP_002144 P37059 DHB2_HUMAN Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA. 331 response to retinoic acid|steroid biosynthetic process endoplasmic reticulum membrane|integral to membrane 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 NADH(DB00157) TGCTATCTTGGCGAAGAGCCC 0.483000 37 24 0 0 0.003954 0 0 CSMD2 114784 broad.mit.edu 37 1 34209109 34209109 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:34209109G>A uc001bxm.1 - 13 2122 c.1945C>T c.(1945-1947)Ctg>Ttg p.L649L CSMD2_uc001bxn.1_Silent_p.L609L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 609 CUB 4. integral to membrane|plasma membrane protein binding p.L609L(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGCCTGGCCAGGATGAGCCAG 0.587000 59 24 0 0 0.003954 0 0 COL16A1 1307 broad.mit.edu 37 1 32157060 32157060 + Silent SNP G T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:32157060G>T uc001btk.1 - 18 1721 c.1356C>A c.(1354-1356)ccC>ccA p.P452P COL16A1_uc001btj.1_Silent_p.P281P|COL16A1_uc001btl.4_Silent_p.P452P NM_001856 NP_001847 Q07092 COGA1_HUMAN Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA. 452 Triple-helical region 9 (COL9) with 3 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) CAGGGAGGCCGGGGGGCCCAG 0.662000 27 15 3.99206e-14 4.35959e-14 0.007413 1 0 PDE1C 5137 broad.mit.edu 37 7 31867923 31867923 + Missense_Mutation SNP A T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:31867923A>T uc003tcm.2 - 11 1729 c.1268T>A c.(1267-1269)gTt>gAt p.V423D PDE1C_uc003tcn.1_Missense_Mutation_p.V423D|PDE1C_uc003tco.2_Missense_Mutation_p.V483D|PDE1C_uc003tcr.3_Missense_Mutation_p.V423D|PDE1C_uc003tcs.3_Missense_Mutation_p.V423D NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 423 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TGACTGAGCAACCATAGTGGA 0.458000 54 21 0 0 0.003330 0 0 C12orf36 283422 broad.mit.edu 37 12 13526360 13526360 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:13526360C>T uc001rbs.2 - 2 447 c.195G>A c.(193-195)ggG>ggA p.G65G Homo sapiens chromosome 12 open reading frame 36 (C12orf36), non-coding RNA. lung(3)|skin(3) 6 BRCA - Breast invasive adenocarcinoma(232;0.198) ATTCCTCATTCCCAAATCTGT 0.458000 26 21 0 0 0.008871 0 0 ADAM18 8749 broad.mit.edu 37 8 39466603 39466603 + Silent SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:39466603A>G uc003xni.3 + 3 286 c.231A>G c.(229-231)gaA>gaG p.E77E ADAM18_uc003xnh.3_Silent_p.E77E|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Silent_p.E77E NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 77 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CATATAATGAAACTGGATCTT 0.244000 9 23 0 0 0.008361 0 0 PPP2R4 5524 broad.mit.edu 37 9 131899968 131899968 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:131899968C>T uc004bxm.2 + 8 1175 c.888C>T c.(886-888)acC>acT p.T296T PPP2R4_uc004bxl.2_Silent_p.T261T|PPP2R4_uc011mbo.2_Silent_p.T296T|PPP2R4_uc010myr.2_Intron|PPP2R4_uc004bxn.2_Silent_p.T261T|PPP2R4_uc004bxo.2_Silent_p.T219T|PPP2R4_uc011mbp.2_Silent_p.T232T|PPP2R4_uc011mbq.1_Silent_p.T219T|PPP2R4_uc010mys.2_Silent_p.T226T|PPP2R4_uc011mbr.1_5'Flank|PPP2R4_uc004bxp.3_5'Flank NM_178001 NP_821068 Q15257 PTPA_HUMAN Homo sapiens protein phosphatase 2A activator, regulatory subunit 4 (PPP2R4), transcript variant 1, mRNA. 296 ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Medulloblastoma(224;0.235) UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) TGTTTATTACCGAGGTGAGGA 0.547000 6 10 0 0 0.006214 0 0 FLG 2312 broad.mit.edu 37 1 152282112 152282112 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:152282112G>A uc001ezu.1 - 2 5286 c.5250C>T c.(5248-5250)tcC>tcT p.S1750S NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1750 Ser-rich. S -> F (in dbSNP:rs3120647). keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCCACGTGTGGACTCTTGGT 0.607000 Ichthyosis 367 81 0 0 0.003610 0 0 DUSP27 92235 broad.mit.edu 37 1 167096525 167096525 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:167096525C>T uc001geb.1 + 4 2173 c.2157C>T c.(2155-2157)tcC>tcT p.S719S NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA. 719 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 ACACCATTTCCATTGCCAGTA 0.547000 68 29 0 0 0.009535 0 0 NF1 4763 broad.mit.edu 37 17 29553538 29553538 + Nonsense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:29553538G>A uc002hgg.3 + 17 2470 c.2087G>A c.(2086-2088)tGg>tAg p.W696* NF1_uc002hgh.3_Nonsense_Mutation_p.W696*|NF1_uc010csn.2_Nonsense_Mutation_p.W556*|NF1_uc002hgi.1_5'UTR NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 696 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.W696fs*1(2)|p.W696*(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) ATGTTTCTGTGGAACCCTGAC 0.547000 """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) 52 20 0 0 0.010504 0 0 TRIO 7204 broad.mit.edu 37 5 14462946 14462946 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:14462946G>A uc003jff.3 + 35 5585 c.5579G>A c.(5578-5580)gGc>gAc p.G1860D TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.G1509D NM_007118 NP_009049 O75962 TRIO_HUMAN Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA. 1860 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity p.G1860G(1) NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GAAGAGGAAGGCGAGGAGGGG 0.622000 55 17 0 0 0.004990 0 0 CPNE9 151835 broad.mit.edu 37 3 9754748 9754748 + Missense_Mutation SNP A C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:9754748A>C uc021wst.1 + 9 806 c.635A>C c.(634-636)aAt>aCt p.N212T CPNE9_uc003bsd.3_Missense_Mutation_p.N211T NM_153635 NP_705899 Q8IYJ1 CPNE9_HUMAN Homo sapiens copine family member IX (CPNE9), mRNA. 212 C2 2. breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) GCTCTGTGCAATGGAGACTAT 0.537000 20 9 0 0 0.004482 0 0 TGM4 7047 broad.mit.edu 37 3 44943397 44943397 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:44943397C>T uc003coc.4 + 7 1018 c.945C>T c.(943-945)atC>atT p.I315I NM_003241 NP_003232 P49221 TGM4_HUMAN Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA. 315 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) GCGAGAAAATCACCAGTATGA 0.498000 28 13 0 0 0.001855 0 0 ZNF716 441234 broad.mit.edu 37 7 57529081 57529081 + Missense_Mutation SNP T A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:57529081T>A uc011kdi.1 + 3 1026 c.914T>A c.(913-915)tTt>tAt p.F305Y NM_001159279 NP_001152751 Homo sapiens zinc finger protein 716 (ZNF716), mRNA. p.A304T(1) breast(1)|kidney(1)|lung(20)|ovary(2) 24 GGCAAAGCCTTTAGCCGCTCT 0.428000 35 30 0 0 0.006320 0 0 GPHB5 122876 broad.mit.edu 37 14 63784459 63784459 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:63784459G>A uc021rud.1 - 1 162 c.105C>T c.(103-105)ggC>ggT p.G35G NM_145171 NP_660154 Q86YW7 GPHB5_HUMAN Homo sapiens glycoprotein hormone beta 5 (GPHB5), mRNA. 35 extracellular region hormone activity breast(1)|endometrium(1)|lung(4)|urinary_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978) TCACGGCACAGCCCACAAAGG 0.627000 41 14 0 0 0.001855 0 0 CIT 11113 broad.mit.edu 37 12 120173010 120173010 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:120173010G>A uc001txj.2 - 24 3167 c.3111C>T c.(3109-3111)cgC>cgT p.R1037R CIT_uc001txh.2_Silent_p.R529R|CIT_uc001txi.2_Silent_p.R995R NM_001206999 NP_001193928 O14578 CTRO_HUMAN Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA. 995 intracellular signal transduction ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TGATCTCCCGGCGGAGATGGT 0.488000 63 37 0 0 0.005524 0 0 DMBT1 1755 broad.mit.edu 37 10 124402818 124402818 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:124402818G>A uc001lgk.1 + 52 7252 c.7146G>A c.(7144-7146)tcG>tcA p.S2382S DMBT1_uc001lgl.1_Silent_p.S2372S|DMBT1_uc001lgm.1_Silent_p.S1754S|DMBT1_uc021qaf.1_Silent_p.S2382S|DMBT1_uc021qag.1_Silent_p.S2372S|DMBT1_uc021qah.1_Silent_p.S1754S|DMBT1_uc009xzz.1_Silent_p.S2381S|DMBT1_uc010qtx.1_Silent_p.S1102S|DMBT1_uc009yab.1_Silent_p.S1085S|DMBT1_uc009yac.1_Silent_p.S676S NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 2382 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGTTGAGGTCGAAGAGGGATG 0.612000 54 43 0 0 0.009718 0 0 FUT2 2524 broad.mit.edu 37 19 49206783 49206783 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:49206783C>T uc002pke.4 + 1 681 c.570C>T c.(568-570)agC>agT p.S190S FUT2_uc010emc.3_Silent_p.S190S|FUT2_uc021uwx.1_Silent_p.S190S NM_001097638 NP_001091107 Q10981 FUT2_HUMAN Homo sapiens fucosyltransferase 2 (secretor status included) (FUT2), transcript variant 2, mRNA. 190 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) TGAACGGGAGCCGGCCGGGCA 0.647000 42 17 0 0 0.004007 0 0 PKD1 5310 broad.mit.edu 37 16 2168111 2168111 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:2168111G>A uc002cos.1 - 4 1091 c.882C>T c.(880-882)atC>atT p.I294I TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.I294I NM_001009944 NP_001009944 P98161 PKD1_HUMAN Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA. 294 PKD 1. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GCGGGGCAGCGATGTGGAAGG 0.711000 10 11 0 0 0.010729 0 0 FTSJ3 117246 broad.mit.edu 37 17 61902690 61902690 + Nonsense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:61902690C>T uc002jbz.3 - 5 585 c.507G>A c.(505-507)tgG>tgA p.W169* FTSJ3_uc002jca.3_Nonsense_Mutation_p.W169*|PSMC5_uc002jcb.3_5'Flank|PSMC5_uc010ddy.3_5'Flank|PSMC5_uc002jcd.3_5'Flank NM_017647 NP_060117 Q8IY81 RRMJ3_HUMAN Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA. 169 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCTGAAAGATCCATAGCAGAG 0.527000 74 25 0 0 0.003954 0 0 ITFG2 55846 broad.mit.edu 37 12 2930439 2930439 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:2930439C>T uc001qlb.2 + 6 847 c.707C>T c.(706-708)gCt>gTt p.A236V ITFG2_uc010seb.2_Missense_Mutation_p.A59V|ITFG2_uc010sec.2_Non-coding_Transcript NM_018463 NP_060933 Q969R8 ITFG2_HUMAN Homo sapiens integrin alpha FG-GAP repeat containing 2 (ITFG2), mRNA. 236 central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GAGACCCCAGCTGCCCGAGAC 0.552000 9 7 0 0 0.001984 0 0 UBR4 23352 broad.mit.edu 37 1 19441987 19441987 + Missense_Mutation SNP C A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:19441987C>A uc001bbi.3 - 73 10972 c.10968G>T c.(10966-10968)gaG>gaT p.E3656D UBR4_uc001bbj.1_Missense_Mutation_p.E71D NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 3656 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) ACTGCAGGGTCTCTGTGGAGG 0.532000 86 55 5.39261e-20 5.91565e-20 0.003610 1 0 GPR18 2841 broad.mit.edu 37 13 99907627 99907627 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr13:99907627G>A uc001voe.4 - 2 1159 c.500C>T c.(499-501)tCc>tTc p.S167F UBAC2_uc001voa.4_Intron|UBAC2_uc010tiu.2_Intron|UBAC2_uc001vob.4_Intron|UBAC2_uc010tiv.2_Intron|UBAC2_uc001vod.3_Intron|UBAC2_uc001voc.3_Intron|UBAC2_uc010tiw.2_Intron|MIR548AN_uc021rly.1_Intron|GPR18_uc010afv.3_Missense_Mutation_p.S167F|GPR18_uc021rlz.1_Missense_Mutation_p.S167F NM_005292 NP_005283 Q14330 GPR18_HUMAN Homo sapiens G protein-coupled receptor 18 (GPR18), transcript variant 1, mRNA. 167 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6) 10 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Glycine(DB00145) GGCGGGAGTGGAGTCTTTATC 0.488000 19 31 0 0 0.004878 0 0 NLGN1 22871 broad.mit.edu 37 3 173993129 173993129 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:173993129C>T uc021xhm.1 + 4 1111 c.791C>T c.(790-792)gCt>gTt p.A264V NLGN1_uc003fio.1_Missense_Mutation_p.A224V|NLGN1_uc010hww.1_Missense_Mutation_p.A264V|NLGN1_uc003fip.1_Missense_Mutation_p.A224V NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN Homo sapiens neuroligin 1 (NLGN1), mRNA. 241 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) GGCGATCAGGCTGCAAAGGGG 0.368000 47 30 0 0 0.004289 0 0 TRIM46 80128 broad.mit.edu 37 1 155154622 155154623 + Missense_Mutation DNP CC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:155154622_155154623CC>TT uc001fhs.1 + 8 1966_1967 c.1883_1884CC>TT c.(1882-1884)ccc>cTT p.P628L TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.P502L|TRIM46_uc001fhu.1_Missense_Mutation_p.P605L|TRIM46_uc009wpg.1_Missense_Mutation_p.P615L|TRIM46_uc001fhw.1_Non-coding_Transcript|TRIM46_uc021pao.1_5'Flank NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN Homo sapiens tripartite motif containing 46 (TRIM46), mRNA. 628 B30.2/SPRY. intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GTGATCAGCCCCAGGTCAGACC 0.639000 33 8 0 0 0.004672 0 0 KCNB2 9312 broad.mit.edu 37 8 73848694 73848694 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:73848694C>T uc003xzb.3 + 2 1692 c.1104C>T c.(1102-1104)atC>atT p.I368I NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 368 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TCACCAGTATCCCTGCATCAT 0.443000 24 98 0 0 0.003610 0 0 APBB2 323 broad.mit.edu 37 4 40936678 40936678 + Silent SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:40936678T>C uc003gvn.3 - 8 1776 c.1146A>G c.(1144-1146)ttA>ttG p.L382L APBB2_uc010ifu.3_5'UTR|APBB2_uc003gvl.3_Silent_p.L381L|APBB2_uc003gvm.3_Silent_p.L360L|APBB2_uc011byt.1_Silent_p.L343L NM_004307 NP_004298 Q92870 APBB2_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA. 381 cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 CAAACTCTTTTAAACTGGGGT 0.438000 12 15 0 0 0.004990 0 0 PCTP 58488 broad.mit.edu 37 17 53851150 53851151 + Missense_Mutation DNP CC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:53851150_53851151CC>TT uc002iul.4 + 3 530_531 c.405_406CC>TT c.(403-408)gcccgg>gcTTgg p.R136W PCTP_uc002ium.4_Missense_Mutation_p.R64W|PCTP_uc010dch.3_Non-coding_Transcript NM_021213 NP_001095872 Q9UKL6 PPCT_HUMAN Homo sapiens phosphatidylcholine transfer protein (PCTP), transcript variant 1, mRNA. 136 START. cytosol phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(1;0.00207) TGATCCTGGCCCGGAGCACCTC 0.589000 37 11 0 0 0.004672 0 0 SCAF4 57466 broad.mit.edu 37 21 33057964 33057964 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr21:33057964G>A uc002ypd.2 - 16 2552 c.2126C>T c.(2125-2127)cCa>cTa p.P709L SCAF4_uc002ype.2_Missense_Mutation_p.P709L|SCAF4_uc010glu.2_Missense_Mutation_p.P694L|SCAF4_uc002ypf.1_Missense_Mutation_p.P383L NM_020706 NP_065757 O95104 SFR15_HUMAN Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA. 709 nucleus RNA binding|nucleotide binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 ACCAAAGCCTGGAGGCGGTAT 0.537000 31 21 0 0 0.012319 0 0 SYNRG 11276 broad.mit.edu 37 17 35898496 35898498 + Missense_Mutation DNP TA AG AG TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:35898496_35898498TA>AG uc002hoa.3 - 17 3528_3530 c.3445_3447TA>CT c.(3445-3447)tta>CT p.L1149del SYNRG_uc010wde.2_Missense_Mutation_p.L1071del|SYNRG_uc010wdf.2_Missense_Mutation_p.L1071del|SYNRG_uc002hoc.3_Missense_Mutation_p.L1070del|SYNRG_uc002hoe.3_Missense_Mutation_p.L1071del|SYNRG_uc002hod.3_Missense_Mutation_p.L1026del|SYNRG_uc010wdg.2_Missense_Mutation_p.L943del|SYNRG_uc002hob.3_Missense_Mutation_p.L1149del NM_007247 NP_009178 Q9UMZ2 SYNRG_HUMAN Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA. 1149 endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TGATTCCATTTAAGGTATCATTT 0.305000 177 44 0 0 0.004672 0 0 FAM161A 84140 broad.mit.edu 37 2 62069262 62069262 + Silent SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:62069262A>G uc002sbm.4 - 1 519 c.417T>C c.(415-417)tcT>tcC p.S139S FAM161A_uc002sbn.4_5'UTR|FAM161A_uc010ypo.2_Silent_p.S139S|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_Silent_p.S30S NM_001201543 NP_001188472 Q3B820 F161A_HUMAN Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA. 139 response to stimulus|visual perception centrosome breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CTTACCTGGAAGAGTCACTAA 0.313000 57 28 0 0 0.003271 0 0 FAM123C 205147 broad.mit.edu 37 2 131519712 131519712 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:131519712G>A uc021voy.1 + 0 67 c.67G>A c.(67-69)Gac>Aac p.D23N FAM123C_uc002trw.2_Missense_Mutation_p.D23N|FAM123C_uc010fmv.2_Missense_Mutation_p.D23N|FAM123C_uc010fms.1_Missense_Mutation_p.D23N|FAM123C_uc010fmt.1_Missense_Mutation_p.D23N|FAM123C_uc010fmu.1_Missense_Mutation_p.D23N NM_152698 NP_689911 Q8N944 F123C_HUMAN Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA. 23 breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8) 73 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GAAACCCCCAGACCCAGCAGC 0.632000 11 5 0 0 0.001168 0 0 FETUB 26998 broad.mit.edu 37 3 186370139 186370139 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:186370139C>T uc010hyq.3 + 7 1129 c.868C>T c.(868-870)Ccc>Tcc p.P290S FETUB_uc011brz.2_Missense_Mutation_p.P142S|FETUB_uc003fqn.3_Missense_Mutation_p.P290S|FETUB_uc010hyr.3_Missense_Mutation_p.P253S|FETUB_uc010hys.3_Missense_Mutation_p.P142S|FETUB_uc003fqp.4_Missense_Mutation_p.P225S NM_014375 NP_055190 Q9UGM5 FETUB_HUMAN Homo sapiens fetuin B (FETUB), mRNA. 290 extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) GAAAAACACCCCCCCAACAGA 0.507000 78 32 0 0 0.012213 0 0 LOC728024 728024 broad.mit.edu 37 8 37605234 37605234 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:37605234C>T uc010lvx.2 - 0 331 c.289G>A c.(289-291)Gga>Aga p.G97R ERLIN2_uc003xke.4_Intron Homo sapiens chromosome X open reading frame 56 pseudogene (LOC728024), non-coding RNA. AGCAGCAGTCCACACTTTGCA 0.468000 12 43 0 0 0.009718 0 0 PCSK5 5125 broad.mit.edu 37 9 78711013 78711013 + Nonsense_Mutation SNP A T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:78711013A>T uc004akc.2 + 7 1640 c.1102A>T c.(1102-1104)Aaa>Taa p.K368* PCSK5_uc004ajy.2_Nonsense_Mutation_p.K368*|PCSK5_uc004ajz.3_Nonsense_Mutation_p.K368*|PCSK5_uc004aka.3_Non-coding_Transcript NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 368 Catalytic. 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 CTACGATAAGAAAATCGTACG 0.428000 8 11 0 0 0.010729 0 0 SENP7 57337 broad.mit.edu 37 3 101090866 101090866 + Missense_Mutation SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:101090866T>C uc003dut.3 - 6 893 c.782A>G c.(781-783)gAt>gGt p.D261G SENP7_uc003duu.3_Missense_Mutation_p.D196G|SENP7_uc003duv.3_Missense_Mutation_p.D228G|SENP7_uc003duw.3_Missense_Mutation_p.D195G|SENP7_uc003dux.3_Missense_Mutation_p.D97G NM_020654 NP_065705 Q9BQF6 SENP7_HUMAN Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA. 261 proteolysis nucleus cysteine-type peptidase activity p.T260A(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 AGGCTGAGTATCAGATATTAA 0.289000 33 15 0 0 0.004990 0 0 C8orf4 56892 broad.mit.edu 37 8 40011331 40011331 + Nonsense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:40011331C>T uc003xnq.2 + 0 345 c.280C>T c.(280-282)Cag>Tag p.Q94* NM_020130 NP_064515 Q9NR00 CH004_HUMAN Homo sapiens chromosome 8 open reading frame 4 (C8orf4), mRNA. 94 apoptosis breast(1)|large_intestine(1)|ovary(1) 3 Ovarian(28;0.0173) all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141) LUSC - Lung squamous cell carcinoma(45;0.000149) KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111) CAAGCTTTTCCAGTTTCTGAA 0.428000 17 57 0 0 0.003610 0 0 ITK 3702 broad.mit.edu 37 5 156665129 156665129 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:156665129G>A uc003lwo.1 + 8 861 c.779G>A c.(778-780)gGa>gAa p.G260E NM_005546 NP_005537 Q08881 ITK_HUMAN Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA. 260 SH2. T cell receptor signaling pathway|cellular defense response|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGCAAAGAAGGAGCCTTCATG 0.478000 T SYK peripheral T-cell lymphoma 281 165 0 0 0.003610 0 0 FAM193A 8603 broad.mit.edu 37 4 2692478 2692478 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:2692478C>T uc010ick.3 + 13 2312 c.2311C>T c.(2311-2313)Cct>Tct p.P771S FAM193A_uc003gfd.3_Missense_Mutation_p.P571S|FAM193A_uc011bvm.2_Missense_Mutation_p.P593S|FAM193A_uc011bvn.2_Missense_Mutation_p.P571S|FAM193A_uc010icl.3_Missense_Mutation_p.P571S|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Missense_Mutation_p.P425S NM_003704 NP_003695 P78312 F193A_HUMAN Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA. 571 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 AGCCCTTCCACCTCCATCTAG 0.398000 34 14 0 0 0.002450 0 0 PAPLN 89932 broad.mit.edu 37 14 73733306 73733306 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:73733306G>A uc010ttx.2 + 22 3524 c.3361G>A c.(3361-3363)Gac>Aac p.D1121N PAPLN_uc001xnw.4_Missense_Mutation_p.D1094N|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Intron|PAPLN_uc010tty.2_Missense_Mutation_p.D1105N|PAPLN_uc010arm.3_Missense_Mutation_p.D320N|PAPLN_uc010arn.3_Intron NM_173462 NP_775733 O95428 PPN_HUMAN Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA. 1121 Ig-like C2-type 2. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) GCAGGACCGAGACCAGCGATG 0.577000 30 21 0 0 0.008871 0 0 QTRTD1 79691 broad.mit.edu 37 3 113784185 113784185 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:113784185C>T uc003eaz.3 + 1 203 c.117C>T c.(115-117)acC>acT p.T39T QTRTD1_uc003eay.3_Silent_p.T27T|QTRTD1_uc011biq.2_Intron|QTRTD1_uc011bir.2_Intron|QTRTD1_uc003eba.3_5'Flank NM_024638 NP_078914 Q9H974 QTRD1_HUMAN Homo sapiens queuine tRNA-ribosyltransferase domain containing 1 (QTRTD1), mRNA. 27 queuosine biosynthetic process mitochondrion metal ion binding|queuine tRNA-ribosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2) 10 GGGACCACACCATGGATATTC 0.507000 39 18 0 0 0.006122 0 0 C14orf43 91748 broad.mit.edu 37 14 74193623 74193623 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:74193623G>A uc010tud.1 - 4 2462 c.2215C>T c.(2215-2217)Cgt>Tgt p.R739C C14orf43_uc001xos.3_Missense_Mutation_p.R4C|C14orf43_uc001xot.3_Missense_Mutation_p.R739C|C14orf43_uc001xou.3_Missense_Mutation_p.R739C|C14orf43_uc010arw.2_Non-coding_Transcript NM_194278 NP_919254 Q6PJG2 CN043_HUMAN Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA. 739 ELM2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4) 37 BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115) GCCAGGGCACGGTCCCTCATC 0.622000 29 16 0 0 0.003163 0 0 TM4SF5 9032 broad.mit.edu 37 17 4686323 4686323 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:4686323G>A uc002fyw.1 + 3 601 c.570G>A c.(568-570)agG>agA p.R190R NM_003963 NP_003954 O14894 T4S5_HUMAN Homo sapiens transmembrane 4 L six family member 5 (TM4SF5), mRNA. 190 integral to plasma membrane large_intestine(2)|lung(3)|ovary(1) 6 GCGATTGCAGGAAAAAACAGG 0.562000 62 17 0 0 0.002780 0 0 CSNK1D 1453 broad.mit.edu 37 17 80209309 80209309 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:80209309G>A uc002kej.3 - 5 1168 c.831C>T c.(829-831)ttC>ttT p.F277F CSNK1D_uc002kei.3_Silent_p.F277F|CSNK1D_uc010wvj.2_Silent_p.F74F|CSNK1D_uc010dil.3_Non-coding_Transcript|CSNK1D_uc002keh.3_Silent_p.F142F|CSNK1D_uc010dim.1_Silent_p.F74F NM_001893 NP_001884 P48730 KC1D_HUMAN Homo sapiens casein kinase 1, delta (CSNK1D), transcript variant 1, mRNA. 277 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|circadian regulation of gene expression|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm centrosome|cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|large_intestine(2)|lung(7) 11 Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155) CCTGGCGATGGAACAGATTCC 0.522000 28 15 0 0 0.004990 0 0 MFAP2 4237 broad.mit.edu 37 1 17303271 17303271 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:17303271G>A uc001azw.3 - 4 306 c.173C>T c.(172-174)tCc>tTc p.S58F MFAP2_uc001azx.3_Missense_Mutation_p.S57F|MFAP2_uc001azy.3_Missense_Mutation_p.S58F|MFAP2_uc010ocl.2_Missense_Mutation_p.S57F NM_002403 NP_059453 P55001 MFAP2_HUMAN Homo sapiens microfibrillar-associated protein 2 (MFAP2), transcript variant 2, mRNA. 58 microfibril kidney(1)|lung(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) ctgTTCCTCGGAGGGCCGAGG 0.662000 34 29 0 0 0.010818 0 0 UGT1A1 54658 broad.mit.edu 37 2 234591146 234591146 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:234591146C>T uc002vut.3 + 0 563 c.563C>T c.(562-564)tCc>tTc p.S188F UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Missense_Mutation_p.S188F NM_019077 NP_061950 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA. 191 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) GCTCCTCTTTCCTATGTCCCC 0.473000 118 64 0 0 0.003610 0 0 CDH17 1015 broad.mit.edu 37 8 95143165 95143165 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:95143165G>A uc003ygh.2 - 15 2348 c.2223C>T c.(2221-2223)gtC>gtT p.V741V CDH17_uc011lgo.1_Silent_p.V527V|CDH17_uc011lgp.1_Silent_p.V741V NM_004063 NP_004054 Q12864 CAD17_HUMAN Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA. 741 Cadherin 7. integral to membrane calcium ion binding p.V741V(2) 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) GGATCAAGACGACATACTCCC 0.478000 23 60 0 0 0.003610 0 0 WDR78 79819 broad.mit.edu 37 1 67299708 67299708 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:67299708G>A uc001dcx.3 - 11 1913 c.1857C>T c.(1855-1857)tcC>tcT p.S619S WDR78_uc009waw.3_Silent_p.S365S|WDR78_uc009wax.3_Non-coding_Transcript NM_024763 NP_079039 Q5VTH9 WDR78_HUMAN Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA. 619 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 TAACCCATTTGGAGATTCTTC 0.348000 39 19 0 0 0.010504 0 0 EIF4G3 8672 broad.mit.edu 37 1 21226294 21226294 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:21226294G>A uc001bec.3 - 10 1983 c.1727C>T c.(1726-1728)cCa>cTa p.P576L EIF4G3_uc010odi.2_Missense_Mutation_p.P180L|EIF4G3_uc010odj.2_Missense_Mutation_p.P575L|EIF4G3_uc009vpz.3_Missense_Mutation_p.P296L|EIF4G3_uc001bef.3_Missense_Mutation_p.P575L|EIF4G3_uc001bee.3_Missense_Mutation_p.P582L NM_003760 NP_003751 O43432 IF4G3_HUMAN Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA. 576 RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation eukaryotic translation initiation factor 4F complex RNA cap binding|protein binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) ATTACGTACTGGCTCAGCTTC 0.428000 205 101 0 0 0.003610 0 0 WNT8B 7479 broad.mit.edu 37 10 102222947 102222948 + Missense_Mutation DNP GT AC AC TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:102222947_102222948GT>AC uc001krb.3 + 0 136_137 c.22_23GT>AC c.(22-24)gtg>ACg p.V8T NM_003393 NP_003384 Q93098 WNT8B_HUMAN Homo sapiens wingless-type MMTV integration site family, member 8B (WNT8B), mRNA. 8 Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|large_intestine(1)|ovary(1)|skin(1) 4 Colorectal(252;0.117) Epithelial(162;1.87e-10)|all cancers(201;1.64e-08) AAAGCCTTCTGTGTACATCTGT 0.436000 54 30 0 0 0.004672 0 0 CRB1 23418 broad.mit.edu 37 1 197407750 197407751 + Missense_Mutation DNP AC CA CA rs138089138 by1000genomes TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:197407750_197407751AC>CA uc001gtz.3 + 9 4032_4033 c.3823_3824AC>CA c.(3823-3825)aca>CAa p.T1275Q CRB1_uc010poz.2_Missense_Mutation_p.T1251Q|CRB1_uc009wza.3_Missense_Mutation_p.T1163Q|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.T739Q|CRB1_uc010ppd.2_Missense_Mutation_p.T756Q|CRB1_uc001gub.1_Missense_Mutation_p.T924Q NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 1275 EGF-like 18. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.C1274F(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 AGGCAACTGCACAGAGTTCCAG 0.441000 106 18 0 0 0.004672 0 0 SCN3A 6328 broad.mit.edu 37 2 166011109 166011109 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:166011109G>A uc002ucx.3 - 10 1725 c.1233C>T c.(1231-1233)ggC>ggT p.G411G SCN3A_uc002ucy.3_Silent_p.G411G|SCN3A_uc002ucz.3_Silent_p.G411G|SCN3A_uc002uda.1_Silent_p.G280G|SCN3A_uc002udb.1_Silent_p.G280G NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA. 411 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) AATAAAATGAGCCCAAGAAAA 0.428000 39 21 0 0 0.012319 0 0 ERAP2 64167 broad.mit.edu 37 5 96228051 96228051 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:96228051G>A uc003kmq.3 + 5 1729 c.1019G>A c.(1018-1020)gGc>gAc p.G340D ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Missense_Mutation_p.G340D|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Missense_Mutation_p.G289D|ERAP2_uc003kmu.3_Non-coding_Transcript NM_022350 NP_071745 Q6P179 ERAP2_HUMAN Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA. 340 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) GAAAATTGGGGCCTCATTACA 0.448000 38 30 0 0 0.012213 0 0 OR2A12 346525 broad.mit.edu 37 7 143792932 143792932 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:143792932C>T uc011kty.2 + 0 732 c.732C>T c.(730-732)ctC>ctT p.L244L NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA. 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L244F(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) CCTCCCACCTCTGCGTGGTGG 0.562000 158 128 0 0 0.003610 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826141 43826141 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:43826141G>A uc010skx.2 - 20 3062 c.3062C>T c.(3061-3063)tCc>tTc p.S1021F ADAMTS20_uc001rno.1_Missense_Mutation_p.S175F|ADAMTS20_uc001rnp.1_Missense_Mutation_p.S175F NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 1021 TSP type-1 4. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ACTGGGACAGGAAAATTCATT 0.393000 31 18 0 0 0.004990 0 0 C1S 716 broad.mit.edu 37 12 7173252 7173252 + Nonsense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:7173252G>A uc001qsj.3 + 9 1568 c.849G>A c.(847-849)tgG>tgA p.W283* C1S_uc001qsk.3_Nonsense_Mutation_p.W283*|C1S_uc001qsl.3_Nonsense_Mutation_p.W283*|C1S_uc009zfr.3_Nonsense_Mutation_p.W116*|C1S_uc009zfs.3_Non-coding_Transcript NM_201442 NP_958850 P09871 C1S_HUMAN Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA. 283 CUB 2. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity p.W283fs*14(2) breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) AAAAGGGCTGGAAACTTCGCT 0.428000 37 20 0 0 0.003954 0 0 SHC1 6464 broad.mit.edu 37 1 154938947 154938947 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:154938947G>A uc001ffv.3 - 7 1251 c.1030C>T c.(1030-1032)Cca>Tca p.P344S SHC1_uc001ffw.3_Missense_Mutation_p.P344S|SHC1_uc001ffx.3_Missense_Mutation_p.P234S|SHC1_uc001ffy.3_Missense_Mutation_p.P234S|SHC1_uc001ffz.1_Missense_Mutation_p.P115S NM_183001 NP_001189788 P29353 SHC1_HUMAN Homo sapiens SHC (Src homology 2 domain containing) transforming protein 1 (SHC1), transcript variant 1, mRNA. 344 CH1. Ras protein signal transduction|activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|regulation of epidermal growth factor receptor activity|regulation of growth Shc-EGFR complex|cytosol|mitochondrial matrix epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGGTCAGGTGGCTCTTCCTCC 0.597000 25 5 0 0 0.000602 0 0 C7orf31 136895 broad.mit.edu 37 7 25181885 25181885 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:25181885C>T uc003sxn.1 - 8 1487 c.926G>A c.(925-927)cGa>cAa p.R309Q NM_138811 NP_620166 Q8N865 CG031_HUMAN Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA. 309 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 14 TCCTATCTTTCGTGTTAACTC 0.448000 56 46 0 0 0.003610 0 0 CFHR2 3080 broad.mit.edu 37 1 196919996 196919997 + Missense_Mutation DNP CC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:196919996_196919997CC>TT uc001gtq.1 + 2 345_346 c.268_269CC>TT c.(268-270)cct>TTt p.P90F CFHR2_uc001gtr.1_Intron NM_005666 NP_005657 P36980 FHR2_HUMAN Homo sapiens complement factor H-related 2 (CFHR2), mRNA. 90 Sushi 2. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 GTGTTTCTTTCCTTTTGTGGAA 0.322000 48 32 0 0 0.004672 0 0 LRIF1 55791 broad.mit.edu 37 1 111494808 111494808 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:111494808G>A uc001eaa.3 - 1 954 c.698C>T c.(697-699)tCt>tTt p.S233F LRIF1_uc001dzz.3_Intron|LRIF1_uc001eab.3_Intron NM_018372 NP_060842 Q5T3J3 LRIF1_HUMAN Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA. 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 ATTTACAGGAGATACATAAAT 0.398000 43 21 0 0 0.002780 0 0 KLHL23 151230 broad.mit.edu 37 2 170592479 170592479 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:170592479G>A uc002ufh.2 + 3 1330 c.955G>A c.(955-957)Gga>Aga p.G319R KLHL23_uc002ufi.2_Missense_Mutation_p.G319R NM_001199290 NP_001186219 Q8NBE8 KLH23_HUMAN Homo sapiens PHOSPHO2-KLHL23 readthrough (PHOSPHO2-KLHL23), mRNA. 319 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 16 TACATGTTTAGGACCCAACAT 0.418000 66 43 0 0 0.011902 0 0 ARID5B 84159 broad.mit.edu 37 10 63819004 63819004 + Missense_Mutation SNP A T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:63819004A>T uc001jlt.2 + 6 1507 c.1051A>T c.(1051-1053)Aac>Tac p.N351Y ARID5B_uc001jlu.2_Missense_Mutation_p.N108Y NM_032199 NP_115575 Q14865 ARI5B_HUMAN Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA. 351 ARID. 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 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) TCTAACAGTTAACCTTTGGAC 0.299000 28 17 0 0 0.007413 0 0 SNX29 92017 broad.mit.edu 37 16 12618580 12618580 + Missense_Mutation SNP C G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:12618580C>G uc002dby.4 + 19 2262 c.1045C>G c.(1045-1047)Cgg>Ggg p.R349G NM_032167 NP_115543 Q8TEQ0 SNX29_HUMAN Homo sapiens sorting nexin 29 (SNX29), mRNA. 349 PX. cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 TGTGGAGGAACGGAGAAAGCA 0.517000 22 15 0 0 0.002450 0 0 IL2RA 3559 broad.mit.edu 37 10 6066298 6066298 + Silent SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:6066298T>C uc001iiz.2 - 2 495 c.276A>G c.(274-276)aaA>aaG p.K92K IL2RA_uc009xih.2_Silent_p.K92K|IL2RA_uc001ija.1_Silent_p.K54K NM_000417 NP_000408 P01589 IL2RA_HUMAN Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA. 92 cell proliferation integral to membrane interleukin-2 receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) GTGTCACTTGTTTCGTTGTGT 0.413000 30 15 0 0 0.002450 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140801345 140801345 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:140801345G>A uc003lkq.2 + 0 809 c.551G>A c.(550-552)cGg>cAg p.R184Q 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_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Missense_Mutation_p.R184Q|PCDHGC5_uc003lkp.2_Missense_Mutation_p.R184Q NM_018914 NP_061737 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA. 183 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) TTGCAACTGCGGGGCAGAACG 0.542000 14 9 0 0 0.008291 0 0 ZNF143 7702 broad.mit.edu 37 11 9519272 9519272 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:9519272C>T uc001mhr.3 + 9 1011 c.892C>T c.(892-894)Cgg>Tgg p.R298W ZNF143_uc009yfu.3_Missense_Mutation_p.R297W|ZNF143_uc010rby.2_Missense_Mutation_p.R267W NM_003442 NP_003433 P52747 ZN143_HUMAN Homo sapiens zinc finger protein 143 (ZNF143), mRNA. 298 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm DNA binding|zinc ion binding endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 13 all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212) AAAGCCATATCGGTGTTCGGA 0.328000 9 32 0 0 0.004289 0 0 TACC2 10579 broad.mit.edu 37 10 123843781 123843781 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:123843781G>A uc001lfv.3 + 3 2126 c.1766G>A c.(1765-1767)gGa>gAa p.G589E TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.G589E|TACC2_uc010qtv.2_Missense_Mutation_p.G589E NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 589 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CCTGATGGTGGAGACCCAGGG 0.547000 37 13 0 0 0.002450 0 0 LRP2 4036 broad.mit.edu 37 2 170048526 170048526 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:170048526C>T uc002ues.3 - 47 9061 c.8848G>A c.(8848-8850)Gat>Aat p.D2950N NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 2950 LDL-receptor class A 22. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AACTCGGAATCCGAGCAGTTT 0.463000 33 19 0 0 0.010504 0 0 MEGF11 84465 broad.mit.edu 37 15 66206298 66206298 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:66206298C>T uc002apm.2 - 19 2628 c.2487G>A c.(2485-2487)atG>atA p.M829I MEGF11_uc002apl.2_Missense_Mutation_p.M754I|MEGF11_uc002apn.1_Missense_Mutation_p.M829I NM_032445 NP_115821 A6BM72 MEG11_HUMAN Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA. 829 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 TCAGCTCCTCCATCATGAGGG 0.612000 26 10 0 0 0.008291 0 0 WAPAL 23063 broad.mit.edu 37 10 88218804 88218804 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:88218804C>T uc001kdn.3 - 12 2719 c.2710G>A c.(2710-2712)Gaa>Aaa p.E904K WAPAL_uc009xsv.3_Missense_Mutation_p.E181K|WAPAL_uc001kdo.3_Missense_Mutation_p.E867K|WAPAL_uc009xsw.3_Missense_Mutation_p.E861K NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA. 867 WAPL. cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 CTTTGATTTTCGGGATTATGC 0.318000 31 17 0 0 0.010504 0 0 SLC27A3 11000 broad.mit.edu 37 1 153749040 153749040 + Missense_Mutation SNP G T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:153749040G>T uc001fcz.3 + 1 920 c.855G>T c.(853-855)atG>atT p.M285I SLC27A3_uc009won.3_Non-coding_Transcript NM_024330 NP_077306 Q5K4L6 S27A3_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA. 285 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TGAGAGCCATGGGGCTCCACC 0.627000 179 44 1.30916e-28 1.43939e-28 0.003610 1 0 PRKG2 5593 broad.mit.edu 37 4 82073116 82073116 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:82073116G>A uc003hmh.2 - 6 1096 c.1083C>T c.(1081-1083)atC>atT p.I361I PRKG2_uc011ccf.1_5'UTR|PRKG2_uc011ccg.1_5'UTR|PRKG2_uc011cch.1_Silent_p.I361I NM_006259 NP_006250 Q13237 KGP2_HUMAN Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA. 361 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 GAATTCACCTGATAAGAGCTT 0.323000 76 28 0 0 0.002836 0 0 MAST2 23139 broad.mit.edu 37 1 46488950 46488950 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:46488950G>A uc001cov.3 + 13 1814 c.1531G>A c.(1531-1533)Gac>Aac p.D511N MAST2_uc001cow.3_Missense_Mutation_p.D511N|MAST2_uc001coy.1_Missense_Mutation_p.D185N|MAST2_uc001coz.1_Missense_Mutation_p.D396N|MAST2_uc009vya.3_Missense_Mutation_p.D433N|MAST2_uc001cpa.3_Non-coding_Transcript NM_015112 NP_055927 Q6P0Q8 MAST2_HUMAN Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA. 511 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CTCTGAAGAGGACTTCGAGAC 0.547000 91 64 0 0 0.003610 0 0 RHOT1 55288 broad.mit.edu 37 17 30533950 30533950 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:30533950G>A uc002hgw.3 + 16 1677 c.1438G>A c.(1438-1440)Gaa>Aaa p.E480K RHOT1_uc002hgy.3_Missense_Mutation_p.E480K|RHOT1_uc002hgz.3_Missense_Mutation_p.E480K|RHOT1_uc002hha.3_Missense_Mutation_p.E353K|RHOT1_uc010csv.3_Non-coding_Transcript|RHOT1_uc002hgx.3_Missense_Mutation_p.E353K|RHOT1_uc010wby.2_Missense_Mutation_p.E480K|RHOT1_uc002hhb.3_Missense_Mutation_p.E459K|RHOT1_uc002hgv.3_Missense_Mutation_p.E480K NM_001033568 NP_001028740 Q8IXI2 MIRO1_HUMAN Homo sapiens ras homolog gene family, member T1 (RHOT1), transcript variant 1, mRNA. 480 Miro 2. apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane GTP binding|GTPase activity|calcium ion binding|protein binding NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) CTCAGAATCGGAATTTCTAAC 0.303000 27 17 0 0 0.004007 0 0 FERMT2 10979 broad.mit.edu 37 14 53347814 53347814 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:53347814C>T uc001xac.3 - 5 981 c.795G>A c.(793-795)aaG>aaA p.K265K FERMT2_uc001xad.3_Silent_p.K265K|FERMT2_uc001xae.3_Silent_p.K265K|FERMT2_uc001xaf.3_Silent_p.K265K NM_001134999 NP_001128471 Q96AC1 FERM2_HUMAN Homo sapiens fermitin family member 2 (FERMT2), transcript variant 2, mRNA. 265 FERM. 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) CCTCATTTTCCTTCACATCTT 0.378000 15 15 0 0 0.006122 0 0 PTF1A 256297 broad.mit.edu 37 10 23481535 23481536 + Missense_Mutation DNP TT AC AC TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:23481535_23481536TT>AC uc001irp.3 + 0 76_77 c.76_77TT>AC c.(76-78)ttc>ACc p.F26T NM_178161 NP_835455 Q7RTS3 PTF1A_HUMAN Homo sapiens pancreas specific transcription factor, 1a (PTF1A), mRNA. 26 endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent cytoplasm|transcription factor complex endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 7 CGAGGACGACTTCTTCACCGAC 0.658000 186 113 0 0 0.004672 0 0 ROBO2 6092 broad.mit.edu 37 3 77599980 77599980 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:77599980C>T uc011bgk.2 + 8 1726 c.1083C>T c.(1081-1083)ttC>ttT p.F361F ROBO2_uc021xat.1_Silent_p.F373F|ROBO2_uc003dpy.4_Silent_p.F357F|ROBO2_uc003dpz.3_Silent_p.F361F|ROBO2_uc011bgj.2_Non-coding_Transcript NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA. 357 Ig-like C2-type 4. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) ACCTACTTTTCCCAAACCAAC 0.413000 36 18 0 0 0.008871 0 0 ROCK1 6093 broad.mit.edu 37 18 18534804 18534804 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr18:18534804G>A uc002kte.3 - 30 4734 c.3793C>T c.(3793-3795)Cat>Tat p.H1265Y NM_005406 NP_005397 Q13464 ROCK1_HUMAN Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA. 1265 Auto-inhibitory.|PH. Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking Golgi membrane|centriole|cytosol ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) CACTTAACATGGCATCTTCGA 0.408000 44 19 0 0 0.006122 0 0 SLC39A10 57181 broad.mit.edu 37 2 196545000 196545000 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:196545000C>T uc002utg.4 + 1 448 c.234C>T c.(232-234)tcC>tcT p.S78S SLC39A10_uc002uth.4_Silent_p.S78S|SLC39A10_uc010zgp.2_Intron NM_001127257 NP_065075 Q9ULF5 S39AA_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA. 78 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) GAAGATTATCCTTTTTTGGTT 0.338000 40 25 0 0 0.006320 0 0 RHBDF2 79651 broad.mit.edu 37 17 74477580 74477580 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:74477580C>T uc002jrq.2 - 2 321 c.27G>A c.(25-27)ggG>ggA p.G9G RHBDF2_uc021udh.1_Silent_p.G9G|RHBDF2_uc002jrr.1_5'UTR|RHBDF2_uc010wtf.1_Silent_p.G9G|RHBDF2_uc002jrs.1_Silent_p.G9G NM_024599 NP_078875 Q6PJF5 RHDF2_HUMAN Homo sapiens rhomboid 5 homolog 2 (Drosophila) (RHBDF2), transcript variant 1, mRNA. 9 negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1) 27 AGGACACGCTCCCGCCATTCT 0.682000 18 15 0 0 0.003163 0 0 PRKCB 5579 broad.mit.edu 37 16 24196784 24196784 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:24196784C>T uc002dmd.3 + 14 1815 c.1618C>T c.(1618-1620)Ccc>Tcc p.P540S PRKCB_uc002dme.3_Missense_Mutation_p.P540S NM_212535 NP_997700 P05771 KPCB_HUMAN Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA. 540 Protein kinase. B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) CATACAGGCACCCTTTGAAGG 0.557000 44 20 0 0 0.007413 0 0 PMP2 5375 broad.mit.edu 37 8 82355666 82355666 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:82355666G>A uc003ycb.1 - 3 464 c.366C>T c.(364-366)ggC>ggT p.G122G PMP2_uc010lzv.1_Non-coding_Transcript NM_002677 NP_002668 P02689 MYP2_HUMAN Homo sapiens peripheral myelin protein 2 (PMP2), mRNA. 122 cytoplasm cholesterol binding|fatty acid binding|transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Epithelial(68;0.186) TGCACACCACGCCCTTCATTT 0.313000 20 48 0 0 0.003610 0 0 PTPRS 5802 broad.mit.edu 37 19 5215357 5215357 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:5215357G>A uc002mbv.3 - 27 4495 c.4261C>T c.(4261-4263)Cgc>Tgc p.R1421C PTPRS_uc002mbu.1_Missense_Mutation_p.R990C|PTPRS_uc010xin.2_Missense_Mutation_p.R963C|PTPRS_uc002mbw.3_Missense_Mutation_p.R1383C|PTPRS_uc002mbx.3_Missense_Mutation_p.R978C|PTPRS_uc002mby.3_Missense_Mutation_p.R974C NM_002850 NP_002841 Q13332 PTPRS_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA. 1421 Tyrosine-protein phosphatase 1. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) TTGGCATAGCGGTTCTTCGGC 0.572000 60 32 0 0 0.009535 0 0 SV2C 22987 broad.mit.edu 37 5 75490882 75490882 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:75490882G>A uc003kei.1 + 2 853 c.719G>A c.(718-720)gGt>gAt p.G240D NM_014979 NP_055794 Q496J9 SV2C_HUMAN Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA. 240 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) TTTGTCCAAGGTTATGGCTTC 0.403000 155 90 0 0 0.003610 0 0 SLC22A20 440044 broad.mit.edu 37 11 65004342 65004342 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:65004342C>T uc021qlh.1 + 8 1592 c.909C>T c.(907-909)atC>atT p.I303I SLC22A20_uc001odi.4_Non-coding_Transcript A6NK97 S22AK_HUMAN Homo sapiens solute carrier family 22, member 20 (SLC22A20), transcript variant 2, non-coding RNA. 518 ion transport integral to membrane transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2) 8 TGGAGACCATCGCAGCCATGG 0.642000 20 66 0 0 0.003610 0 0 SOX12 6666 broad.mit.edu 37 20 306916 306916 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:306916G>A uc002wdh.3 + 0 678 c.348G>A c.(346-348)aaG>aaA p.K116K NM_006943 NP_008874 O15370 SOX12_HUMAN Homo sapiens SRY (sex determining region Y)-box 12 (SOX12), mRNA. 116 cell fate commitment|spinal cord development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) AAAAGAGCAAgggggcgcccg 0.741000 4 5 0 0 0.000602 0 0 abParts 0 broad.mit.edu 37 2 90249242 90249242 + RNA SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:90249242T>C uc010yts.2 + 39 c.5077T>C Parts of antibodies, mostly variable regions. CAAAAGCCCCTAAGCTCTTCA 0.502000 97 76 0 0 0.003610 0 0 CREB5 9586 broad.mit.edu 37 7 28758481 28758481 + Silent SNP C T T rs150680376 byFrequency TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:28758481C>T uc003szq.3 + 5 966 c.576C>T c.(574-576)tcC>tcT p.S192S CREB5_uc003szo.3_Silent_p.S159S|CREB5_uc003szr.3_Silent_p.S185S|CREB5_uc003szs.3_Silent_p.S53S|CREB5_uc011jzr.2_Silent_p.S41S NM_182898 NP_878902 Q02930 CREB5_HUMAN Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA. 192 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S192S(2)|p.S192F(1) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 CAGGATCTTCCGCCGTCTTGA 0.517000 363 251 0 0 0.003610 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18716344 18716344 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:18716344G>A uc001rdt.3 + 26 3807 c.3691G>A c.(3691-3693)Gaa>Aaa p.E1231K PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E1272K|PIK3C2G_uc010sic.2_Missense_Mutation_p.E1050K NM_004570 NP_004561 O75747 P3C2G_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA. 1231 PX. 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) CAGCAACAACGAAACAAGCCT 0.418000 26 10 0 0 0.006214 0 0 CPOX 1371 broad.mit.edu 37 3 98300346 98300346 + Silent SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:98300346T>C uc003dsx.3 - 5 1289 c.1182A>G c.(1180-1182)gaA>gaG p.E394E NM_000097 NP_000088 P36551 HEM6_HUMAN Homo sapiens coproporphyrinogen oxidase (CPOX), mRNA. 394 Important for dimerization. mitochondrial intermembrane space coproporphyrinogen oxidase activity|protein homodimerization activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 GCAGATTAAATTCTACATACC 0.388000 31 16 0 0 0.004990 0 0 MYOG 4656 broad.mit.edu 37 1 203054834 203054835 + Missense_Mutation DNP CC TT TT rs148417428 TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:203054834_203054835CC>TT uc001gzd.3 - 0 543_544 c.255_256GG>AA c.(253-258)gcggcc>gcAAcc p.A86T NM_002479 NP_002470 P15173 MYOG_HUMAN Homo sapiens myogenin (myogenic factor 4) (MYOG), mRNA. 86 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1) 12 CTCAGTGTGGCCGCCCGCCGCC 0.653000 92 23 0 0 0.004672 0 0 RACGAP1P 83956 broad.mit.edu 37 12 45458979 45458979 + RNA SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:45458979C>T uc001rol.3 - 0 c.216G>A Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA. CCTTGTATTTCCCCAGCTCAT 0.433000 14 3 0 0 0.004672 0 0 MRC2 9902 broad.mit.edu 37 17 60742216 60742216 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:60742216C>T uc002jad.3 + 1 828 c.426C>T c.(424-426)tcC>tcT p.S142S NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN Homo sapiens mannose receptor, C type 2 (MRC2), mRNA. 142 Ricin B-type lectin. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 GCAACATATCCAAGCCTGGCA 0.612000 52 21 0 0 0.002299 0 0 SCGB1D4 404552 broad.mit.edu 37 11 62065005 62065005 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:62065005C>T uc001ntd.1 - 1 235 c.181G>A c.(181-183)Gaa>Aaa p.E61K NM_206998 NP_996881 Q6XE38 SG1D4_HUMAN Homo sapiens secretoglobin, family 1D, member 4 (SCGB1D4), mRNA. 61 extracellular region binding lung(1)|prostate(1) 2 TGCTTCACTTCCAACTTGGCT 0.423000 50 189 0 0 0.003610 0 0 ENPEP 2028 broad.mit.edu 37 4 111398175 111398175 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:111398175G>A uc003iab.4 + 0 947 c.605G>A c.(604-606)gGa>gAa p.G202E NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 202 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TCCCTCGTGGGATTTTATAGA 0.498000 52 31 0 0 0.002836 0 0 ODZ3 55714 broad.mit.edu 37 4 183664415 183664415 + Missense_Mutation SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:183664415A>G uc003ivd.1 + 17 3547 c.3472A>G c.(3472-3474)Att>Gtt p.I1158V ODZ3_uc003ive.1_Missense_Mutation_p.I564V NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 1158 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) AAGGCGCAGCATTTCCTGCCC 0.532000 35 14 0 0 0.002450 0 0 EXO1 9156 broad.mit.edu 37 1 242020715 242020715 + Silent SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:242020715T>C uc021plj.1 + 4 788 c.474T>C c.(472-474)ctT>ctC p.L158L EXO1_uc001hzh.3_Silent_p.L158L|EXO1_uc009xgq.3_Silent_p.L158L|EXO1_uc021plk.1_Silent_p.L158L NM_006027 NP_569082 Q9UQ84 EXO1_HUMAN Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA. 158 I-domain.|Interaction with MSH3. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) TGGCCTATCTTAACAAAGCGG 0.468000 Editing and processing nucleases 97 23 0 0 0.003954 0 0 DOCK1 1793 broad.mit.edu 37 10 129216633 129216633 + Missense_Mutation SNP A C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:129216633A>C uc010qun.2 + 44 4584 c.4520A>C c.(4519-4521)gAa>gCa p.E1507A DOCK1_uc001ljt.3_Missense_Mutation_p.E1486A|DOCK1_uc009yaq.3_Missense_Mutation_p.E481A NM_001380 NP_001371 Q14185 DOCK1_HUMAN Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA. 1486 DHR-2. 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) TTGCAGGTGGAAATCAGCCCC 0.607000 15 6 0 0 0.001168 0 0 KLHL4 56062 broad.mit.edu 37 X 86890699 86890699 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:86890699G>A uc004efa.2 + 8 2031 c.1849G>A c.(1849-1851)Gga>Aga p.G617R KLHL4_uc004efb.2_Missense_Mutation_p.G617R NM_057162 NP_476503 Q9C0H6 KLHL4_HUMAN Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA. 617 cytoplasm|microtubule cytoskeleton|nucleolus actin binding p.G617R(3) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 CACATACAATGGATTCTTATA 0.458000 5 35 0 0 0.005524 0 0 AXL 558 broad.mit.edu 37 19 41748854 41748854 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:41748854C>T uc010ehj.3 + 10 1569 c.1379C>T c.(1378-1380)gCc>gTc p.A460V AXL_uc010ehi.1_Missense_Mutation_p.A460V|AXL_uc010ehk.3_Missense_Mutation_p.A451V|TRNA_Pseudo_uc021uux.1_5'Flank NM_021913 NP_068713 P30530 UFO_HUMAN Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA. 460 integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 GCAGTCGTGGCCGCTGCCTGT 0.567000 45 21 0 0 0.012319 0 0 HSPA12B 116835 broad.mit.edu 37 20 3721513 3721513 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:3721513C>T uc002wjd.3 + 2 237 c.95C>T c.(94-96)aCc>aTc p.T32I HSPA12B_uc010zqj.2_Intron|HSPA12B_uc010zqi.2_Missense_Mutation_p.T32I|HSPA12B_uc002wje.3_Intron NM_052970 NP_443202 Q96MM6 HS12B_HUMAN Homo sapiens heat shock 70kD protein 12B (HSPA12B), transcript variant 1, mRNA. 32 ATP binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 TCCCCGAGGACCCAGGAAAGC 0.657000 28 9 0 0 0.008291 0 0 TCRBV21S1 0 broad.mit.edu 37 7 142224037 142224037 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:142224037G>A uc003vyi.2 - 1 147 c.130C>T c.(130-132)Cct>Tct p.P44S TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron SubName: Full=V_segment translation product; Flags: Fragment; CCAGAAATAGGATCACACCAA 0.488000 38 30 0 0 0.009535 0 0 SMCHD1 23347 broad.mit.edu 37 18 2750448 2750448 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr18:2750448C>T uc002klm.4 + 31 4297 c.4108C>T c.(4108-4110)Cgt>Tgt p.R1370C SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA. 1370 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 AAAACCCGTTCGTCTCAATGT 0.348000 20 6 0 0 0.001984 0 0 UNC13C 440279 broad.mit.edu 37 15 54914599 54914599 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:54914599C>T uc021smr.1 + 28 6175 c.6175C>T c.(6175-6177)Cat>Tat p.H2059Y UNC13C_uc021sms.1_Missense_Mutation_p.H2061Y|UNC13C_uc002acm.3_5'UTR NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 2061 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.G2059R(1) breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AACGGGAGATCATAAAGTCAC 0.438000 37 18 0 0 0.008871 0 0 SHE 126669 broad.mit.edu 37 1 154461714 154461715 + Missense_Mutation DNP GG AA AA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:154461714_154461715GG>AA uc001ffb.3 - 2 860_861 c.836_837CC>TT c.(835-837)tcc>tTT p.S279F SHE_uc001ffc.3_Non-coding_Transcript NM_001010846 NP_001010846 Q5VZ18 SHE_HUMAN Homo sapiens Src homology 2 domain containing E (SHE), mRNA. 279 breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 14 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) GGAGGTCCTTGGAACTCCGTCT 0.629000 94 23 0 0 0.004672 0 0 KRT6A 3853 broad.mit.edu 37 12 52881598 52881598 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:52881598G>A uc001sam.3 - 8 1810 c.1601C>T c.(1600-1602)gCc>gTc p.A534V NM_005554 NP_005545 P02538 K2C6A_HUMAN Homo sapiens keratin 6A (KRT6A), mRNA. 534 Tail. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) ACCCCCAATGGCTCTGCCACT 0.587000 64 40 0 0 0.013114 0 0 SLC35B1 10237 broad.mit.edu 37 17 47783627 47783627 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:47783627G>A uc002iph.1 - 2 365 c.278C>T c.(277-279)tCc>tTc p.S93F SLC35B1_uc002ipj.1_5'UTR|SLC35B1_uc010wly.1_Missense_Mutation_p.S93F NM_005827 NP_005818 P78383 S35B1_HUMAN Homo sapiens solute carrier family 35, member B1 (SLC35B1), mRNA. 93 endoplasmic reticulum membrane|integral to membrane|microsome UDP-galactose transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1) 7 ACCCAGATAGGAGATAGAACA 0.468000 46 22 0 0 0.002299 0 0 MEGF8 1954 broad.mit.edu 37 19 42880504 42880504 + Silent SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:42880504A>G uc002otl.4 + 40 8549 c.7914A>G c.(7912-7914)ccA>ccG p.P2638P MEGF8_uc002otm.4_Silent_p.P2246P|MEGF8_uc002otn.4_Silent_p.P299P NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA. 2705 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) TCTGCTTCCCACCTGACCCTA 0.697000 36 12 0 0 0.004990 0 0 TTN 7273 broad.mit.edu 37 2 179558399 179558399 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:179558399C>T uc021vsy.1 - 115 28024 c.27799G>A c.(27799-27801)Gaa>Aaa p.E9267K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5928K|TTN_uc010fre.1_Missense_Mutation_p.E378K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 10194 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) GTAACAATTTCCTTTTGTACC 0.299000 17 9 0 0 0.008291 0 0 STARD13 90627 broad.mit.edu 37 13 33701617 33701617 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr13:33701617G>A uc001uuw.3 - 5 1941 c.1815C>T c.(1813-1815)atC>atT p.I605I STARD13_uc001uuu.3_Silent_p.I597I|STARD13_uc001uuv.3_Silent_p.I487I|STARD13_uc001uux.3_Silent_p.I570I|STARD13_uc010abh.1_Silent_p.I590I|STARD13_uc021rhz.1_Silent_p.I597I|STARD13_uc021ria.1_Silent_p.I487I NM_178006 NP_443083 Q9Y3M8 STA13_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA. 605 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) TCTGGCTGCTGATGTGGGGCG 0.627000 4 4 0 0 0.009096 0 0 SPTBN5 51332 broad.mit.edu 37 15 42178457 42178457 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:42178457C>T uc001zos.3 - 6 1224 c.891G>A c.(889-891)cgG>cgA p.R297R NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA. 332 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CTGGAAAATCCCGCGCCTCCA 0.627000 22 6 0 0 0.003080 0 0 STXBP5L 9515 broad.mit.edu 37 3 121097730 121097730 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:121097730G>A uc003eec.4 + 21 2556 c.2416G>A c.(2416-2418)Gaa>Aaa p.E806K STXBP5L_uc011bji.2_Missense_Mutation_p.E782K NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 806 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane p.T805A(1) 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) AGTTACAACAGAAGGTATGTT 0.383000 18 13 0 0 0.002450 0 0 MXRA5 25878 broad.mit.edu 37 X 3235332 3235332 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:3235332G>A uc004crg.4 - 5 6547 c.6390C>T c.(6388-6390)tcC>tcT p.S2130S NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2130 Ig-like C2-type 5. 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) TCCTGCGCGCGGAGCCTACCA 0.667000 2 20 0 0 0.007413 0 0 KIR3DX1 90011 broad.mit.edu 37 19 55045108 55045108 + RNA SNP C A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:55045108C>A uc010yfa.1 + 2 c.334C>A KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA. endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) CTGGCCTTTCCAACAACATCA 0.502000 22 18 5.3912e-06 5.82218e-06 0.006122 1 0 CNTNAP4 85445 broad.mit.edu 37 16 76592486 76592486 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:76592486G>A uc002fex.1 + 22 3981 c.3842G>A c.(3841-3843)aGg>aAg p.R1281K CNTNAP4_uc002feu.1_Missense_Mutation_p.R1277K|CNTNAP4_uc002fev.1_Missense_Mutation_p.R1142K|CNTNAP4_uc010chb.1_Missense_Mutation_p.R1205K NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 1278 cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GAGGCAAAAAGGTCAGAGAAT 0.378000 27 11 0 0 0.008291 0 0 NPTXR 23467 broad.mit.edu 37 22 39222732 39222732 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:39222732G>A uc003awk.3 - 2 1025 c.871C>T c.(871-873)Cca>Tca p.P291S NM_014293 NP_055108 O95502 NPTXR_HUMAN Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA. 291 integral to membrane metal ion binding central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Melanoma(58;0.04) AAGGCATCTGGAGGACTGTAG 0.592000 20 12 0 0 0.001368 0 0 ARF1 375 broad.mit.edu 37 1 228285396 228285396 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:228285396C>T uc001hrs.3 + 3 507 c.364C>T c.(364-366)Ctg>Ttg p.L122L ARF1_uc001hrr.3_Silent_p.L122L|ARF1_uc001hru.3_Silent_p.L122L|ARF1_uc001hrv.3_Silent_p.L122L NM_001658 NP_001649 P84077 ARF1_HUMAN Homo sapiens ADP-ribosylation factor 1 (ARF1), transcript variant 4, mRNA. 122 COPI coating of Golgi vesicle|cellular copper ion homeostasis|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction Golgi membrane|cytosol|perinuclear region of cytoplasm|plasma membrane GTP binding|GTPase activity|protein binding|receptor signaling protein activity breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4) 10 Prostate(94;0.0405) TGCTGTCCTCCTGGTGTTCGC 0.632000 21 40 0 0 0.009718 0 0 SERPINI2 5276 broad.mit.edu 37 3 167159904 167159904 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:167159904G>A uc003fes.1 - 8 1312 c.1241C>T c.(1240-1242)tCa>tTa p.S414L SERPINI2_uc003fer.1_Missense_Mutation_p.S404L|SERPINI2_uc003fet.1_Missense_Mutation_p.S404L NM_006217 NP_006208 O75830 SPI2_HUMAN Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA. 404 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 CATTCACAGTGAATCTAAATC 0.318000 17 5 0 0 0.001168 0 0 ARID3B 10620 broad.mit.edu 37 15 74882180 74882180 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:74882180C>T uc002aye.3 + 4 918 c.717C>T c.(715-717)atC>atT p.I239I ARID3B_uc002ayd.3_Silent_p.I239I|ARID3B_uc010bjs.1_5'Flank NM_006465 NP_006456 Q8IVW6 ARI3B_HUMAN Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA. 239 ARID.|Interaction with RB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 TCAACCGAATCCCCATCATGG 0.522000 48 14 0 0 0.010504 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998737 27998737 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:27998737C>T uc004dbx.1 - 0 830 c.715G>A c.(715-717)Gat>Aat p.D239N NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA. 239 p.D239N(2) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 ACATTAATATCGTGACCACTC 0.512000 6 36 0 0 0.004289 0 0 PDE6C 5146 broad.mit.edu 37 10 95394530 95394530 + Missense_Mutation SNP G A A rs148611776 TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:95394530G>A uc001kiu.4 + 8 1273 c.1135G>A c.(1135-1137)Gaa>Aaa p.E379K NM_006204 NP_006195 P51160 PDE6C_HUMAN Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA. 379 GAF 2. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) ACCTGTAGACGAAACTGGTTG 0.353000 18 12 0 0 0.001855 0 0 EVPL 2125 broad.mit.edu 37 17 74004335 74004335 + Nonsense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:74004335G>A uc010wss.1 - 21 5245 c.5017C>T c.(5017-5019)Cag>Tag p.Q1673* EVPL_uc002jqi.2_Nonsense_Mutation_p.Q1651*|EVPL_uc010wst.1_Nonsense_Mutation_p.Q1121* NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 1651 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TCGTAGATCTGGTCCTTCTCG 0.672000 26 28 0 0 0.004656 0 0 SORBS1 10580 broad.mit.edu 37 10 97096832 97096832 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:97096832G>A uc001kkp.3 - 27 3130 c.3085C>T c.(3085-3087)Ccc>Tcc p.P1029S SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Intron|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.P983S|SORBS1_uc010qoe.2_Intron NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA. 1029 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens SH3/SH2 adaptor activity|actin binding|insulin receptor binding NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) GACAGGGAGGGACTGGCCCTT 0.592000 23 10 0 0 0.010729 0 0 MYCBP2 23077 broad.mit.edu 37 13 77655567 77655567 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr13:77655567G>A uc021rks.1 - 64 11680 c.11413C>T c.(11413-11415)Ctt>Ttt p.L3805F MYCBP2_uc010aev.3_Missense_Mutation_p.L3171F|MYCBP2_uc001vke.3_Missense_Mutation_p.L387F NM_015057 NP_055872 O75592 MYCB2_HUMAN Homo sapiens MYC binding protein 2 (MYCBP2), mRNA. 3767 DOC. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CTTACCCCAAGATCTCGGGAA 0.383000 23 46 0 0 0.003610 0 0 PAPPA2 60676 broad.mit.edu 37 1 176681088 176681088 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:176681088C>T uc001gkz.3 + 11 4933 c.3769C>T c.(3769-3771)Ctg>Ttg p.L1257L PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1257 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 AGAAGGTAGCCTGAAGAAAGA 0.468000 69 13 0 0 0.001855 0 0 PDGFRB 5159 broad.mit.edu 37 5 149510178 149510178 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:149510178C>T uc003lro.3 - 8 1760 c.1291G>A c.(1291-1293)Gaa>Aaa p.E431K PDGFRB_uc010jhd.3_Missense_Mutation_p.E270K NM_002609 NP_002600 P09619 PGFRB_HUMAN Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA. 431 Ig-like C2-type 5. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) ACTGTCTGTTCCCCACTGTCA 0.602000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" OREG0016927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 90 53 0 0 0.003610 0 0 KIF6 221458 broad.mit.edu 37 6 39507938 39507938 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:39507938C>T uc003oot.2 - 12 1581 c.1486G>A c.(1486-1488)Gct>Act p.A496T KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Missense_Mutation_p.A287T|KIF6_uc011dua.1_Missense_Mutation_p.A496T|KIF6_uc010jxb.1_Intron NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN Homo sapiens kinesin family member 6 (KIF6), mRNA. 496 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TCCATGCCAGCCAAGTGGAGA 0.463000 168 47 0 0 0.003610 0 0 FCRL5 83416 broad.mit.edu 37 1 157497650 157497650 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:157497650G>A uc009wsm.3 - 8 1875 c.1717C>T c.(1717-1719)Ccc>Tcc p.P573S FCRL5_uc001fqu.3_Missense_Mutation_p.P573S|FCRL5_uc010phv.1_Missense_Mutation_p.P573S|FCRL5_uc010phw.1_Missense_Mutation_p.P488S NM_001195388 NP_001182317 Q96RD9 FCRL5_HUMAN Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA. 573 Ig-like C2-type 6. integral to membrane|plasma membrane receptor activity p.P573S(2) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) TGGGCCCTGGGAACCCTGAGG 0.527000 89 15 0 0 0.004990 0 0 CFHR1 3078 broad.mit.edu 37 1 196801096 196801096 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:196801096G>A uc001gtn.3 + 5 1074 c.960G>A c.(958-960)ggG>ggA p.G320G CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Silent_p.G224G NM_002113 NP_002104 Q03591 FHR1_HUMAN Homo sapiens complement factor H-related 1 (CFHR1), mRNA. 320 Sushi 5. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 GTTGGGATGGGAAACTGGAGT 0.348000 64 19 0 0 0.002299 0 0 OR4M1 441670 broad.mit.edu 37 14 20249284 20249284 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:20249284C>T uc010tku.2 + 0 803 c.803C>T c.(802-804)tCc>tTc p.S268F NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA. 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S268F(2) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GACTCATTTTCCCTAGATAAA 0.418000 59 27 0 0 0.004656 0 0 APBB1IP 54518 broad.mit.edu 37 10 26849066 26849066 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:26849066C>T uc001iss.3 + 11 1509 c.1188C>T c.(1186-1188)atC>atT p.I396I NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA. 396 PH. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 CCCAGTATATCAAGTATCTCT 0.463000 79 58 0 0 0.003610 0 0 PRPF40B 25766 broad.mit.edu 37 12 50025214 50025214 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:50025214C>T uc001rur.1 + 1 112 c.49C>T c.(49-51)Cct>Tct p.P17S PRPF40B_uc001rup.1_Missense_Mutation_p.P39S|PRPF40B_uc001ruq.1_Missense_Mutation_p.P11S|PRPF40B_uc001rus.1_5'Flank NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA. 17 Pro-rich. RNA splicing|mRNA processing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CCCACCCTTTCCTCCGATGGG 0.602000 89 70 0 0 0.003610 0 0 CCDC90A 63933 broad.mit.edu 37 6 13801538 13801539 + Missense_Mutation DNP GG AA AA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:13801538_13801539GG>AA uc003nbc.2 - 3 853_854 c.722_723CC>TT c.(721-723)gcc>gTT p.A241V CCDC90A_uc010jpf.3_Non-coding_Transcript NM_001031713 NP_001026883 Q96AQ8 CC90A_HUMAN Homo sapiens coiled-coil domain containing 90A (CCDC90A), mRNA. 241 integral to membrane|mitochondrion cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1) 6 Breast(50;0.0027)|Ovarian(93;0.0964) all_hematologic(90;0.117) CTGCTCTGAGGGCTGAAAATTC 0.332000 151 32 0 0 0.004672 0 0 COX15 1355 broad.mit.edu 37 10 101476172 101476172 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:101476172C>T uc001kqb.4 - 7 1651 c.1034G>A c.(1033-1035)cGg>cAg p.R345Q COX15_uc001kqc.4_Missense_Mutation_p.R345Q|COX15_uc010qpj.2_Missense_Mutation_p.R166Q NM_078470 NP_510870 Q7KZN9 COX15_HUMAN Homo sapiens COX15 homolog, cytochrome c oxidase assembly protein (yeast) (COX15), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 345 heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity p.R345L(2) endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(252;0.234) Epithelial(162;3.08e-10)|all cancers(201;2.43e-08) GGGAATTCTCCGAGAGAGGAA 0.458000 65 36 0 0 0.004289 0 0 ADAMTS19 171019 broad.mit.edu 37 5 129015556 129015556 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:129015556G>A uc003kvb.1 + 16 2588 c.2588G>A c.(2587-2589)cGa>cAa p.R863Q ADAMTS19_uc010jdh.1_Non-coding_Transcript NM_133638 NP_598377 Q8TE59 ATS19_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA. 863 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R863*(1) NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TATGTAAGACGAGGCCTCTGG 0.443000 39 23 0 0 0.012319 0 0 NLRP4 147945 broad.mit.edu 37 19 56379170 56379170 + Missense_Mutation SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:56379170A>G uc002qmd.4 + 5 2704 c.2282A>G c.(2281-2283)aAc>aGc p.N761S NLRP4_uc002qmf.3_Missense_Mutation_p.N686S|NLRP4_uc010etf.3_Intron NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 761 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) GTATCCTGCAACCAGTTAGAC 0.512000 38 31 0 0 0.009535 0 0 GPR123 84435 broad.mit.edu 37 10 134942560 134942560 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:134942560G>A uc001llw.3 + 15 3385 c.3385G>A c.(3385-3387)Gac>Aac p.D1129N GPR123_uc001llx.4_Missense_Mutation_p.D410N Q86SQ6 GP123_HUMAN Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA. 410 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) CTTCGGGCACGACCCCCACCT 0.682000 6 3 0 0 0.009096 0 0 CORIN 10699 broad.mit.edu 37 4 47746427 47746428 + Missense_Mutation DNP CC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:47746427_47746428CC>TT uc003gxm.3 - 4 883_884 c.790_791GG>AA c.(790-792)gga>AAa p.G264K CORIN_uc011bzf.2_Missense_Mutation_p.G125K|CORIN_uc011bzg.2_Missense_Mutation_p.G197K|CORIN_uc011bzh.1_Missense_Mutation_p.G264K|CORIN_uc011bzi.1_Missense_Mutation_p.G264K|CORIN_uc003gxn.4_Missense_Mutation_p.G264K NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN Homo sapiens corin, serine peptidase (CORIN), mRNA. 264 peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity p.G264*(2) NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 ACATTGCTTTCCGTTTTCCTGC 0.381000 42 33 0 0 0.004672 0 0 SLC7A4 6545 broad.mit.edu 37 22 21385909 21385910 + Missense_Mutation DNP CC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:21385909_21385910CC>TT uc002zud.3 - 1 260_261 c.192_193GG>AA c.(190-195)aaggag>aaAAag p.E65K SLC7A4_uc002zue.3_Missense_Mutation_p.E65K NM_004173 NP_004164 O43246 CTR4_HUMAN Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA. 65 cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2) 18 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CCAGCCACCTCCTTGGCCACGG 0.658000 23 5 0 0 0.004672 0 0 NUP214 8021 broad.mit.edu 37 9 134073012 134073013 + Missense_Mutation DNP CC AT AT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:134073012_134073013CC>AT uc004cag.3 + 28 4242_4243 c.4131_4132CC>AT c.(4129-4134)cccccg>ccATcg p.P1378S NUP214_uc004cah.3_Missense_Mutation_p.P1368S|NUP214_uc004cai.3_Missense_Mutation_p.P808S|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Missense_Mutation_p.P204S|NUP214_uc011mcf.1_Missense_Mutation_p.P155S|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR NM_005085 NP_005076 P35658 NU214_HUMAN Homo sapiens nucleoporin 214kDa (NUP214), mRNA. 1378 11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich. P -> L (in a breast cancer sample; somatic mutation). carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding p.P1378L(1) NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TTACTGCCCCCCCGGTGTTAGG 0.540000 T """DEK, SET, ABL1""" """AML, T-ALL""" 16 27 0 0 0.004672 0 0 IDH3A 3419 broad.mit.edu 37 15 78452546 78452546 + Missense_Mutation SNP A C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:78452546A>C uc002bdd.3 + 3 314 c.287A>C c.(286-288)aAa>aCa p.K96T IDH3A_uc010umt.2_Missense_Mutation_p.K96T|IDH3A_uc010umu.2_Intron|IDH3A_uc002bdf.3_5'UTR|IDH3A_uc010umv.2_Missense_Mutation_p.K46T|IDH3A_uc021srf.1_Non-coding_Transcript|IDH3A_uc002bdg.3_Missense_Mutation_p.K9T NM_005530 NP_005521 P50213 IDH3A_HUMAN Homo sapiens isocitrate dehydrogenase 3 (NAD+) alpha (IDH3A), nuclear gene encoding mitochondrial protein, mRNA. 96 carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix NAD binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 12 NADH(DB00157) ATGGGCTTGAAAGGTAGCACT 0.458000 15 15 0 0 0.004990 0 0 CALB2 794 broad.mit.edu 37 16 71411569 71411569 + Splice_Site SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:71411569G>A uc002faa.4 + 4 342 c.262_splice c.e4-1 p.L88_splice CALB2_uc010vme.2_Splice_Site|CALB2_uc002fac.4_Splice_Site_p.L88_splice NM_001740 NP_001731 P22676 CALB2_HUMAN Homo sapiens calbindin 2 (CALB2), transcript variant CALB2, mRNA. 88 EF-hand 2. calcium ion binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(137;0.125) TATCTTCACAGCTGGCGCAGA 0.567000 47 26 0 0 0.006320 0 0 FAT3 120114 broad.mit.edu 37 11 92086820 92086820 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:92086820G>A uc001pdj.4 + 0 1559 c.1542G>A c.(1540-1542)ctG>ctA p.L514L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 514 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) TCGCTAGCCTGAATTTGTTAC 0.378000 TCGA Ovarian(4;0.039) 124 360 0 0 0.003610 0 0 KIAA1804 84451 broad.mit.edu 37 1 233514917 233514917 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:233514917C>T uc001hvt.4 + 8 2426 c.2165C>T c.(2164-2166)gCt>gTt p.A722V KIAA1804_uc001hvu.4_Missense_Mutation_p.A168V NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA. 722 activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity p.A722S(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4) 52 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) ACGGAGTCAGCTCTGTATGGG 0.547000 99 24 0 0 0.003954 0 0 ALPK2 115701 broad.mit.edu 37 18 56202572 56202572 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr18:56202572C>T uc002lhj.4 - 4 5061 c.4847G>A c.(4846-4848)gGa>gAa p.G1616E ALPK2_uc002lhk.1_Missense_Mutation_p.G947E NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 1616 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TGTGACATTTCCTTCAGGAGA 0.448000 52 22 0 0 0.010504 0 0 GHR 2690 broad.mit.edu 37 5 42566007 42566007 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:42566007G>A uc021xxv.1 + 1 189 c.52G>A c.(52-54)Gca>Aca p.A18T GHR_uc003jmt.3_Missense_Mutation_p.A11T|GHR_uc003jmu.3_Missense_Mutation_p.A11T|GHR_uc003jmv.2_Missense_Mutation_p.A11T|GHR_uc021xxw.1_Missense_Mutation_p.A11T|GHR_uc021xxx.1_Missense_Mutation_p.A11T|GHR_uc021xxy.1_Missense_Mutation_p.A11T|GHR_uc021xxz.1_Missense_Mutation_p.A11T|GHR_uc021xya.1_Missense_Mutation_p.A11T|GHR_uc021xyb.1_Missense_Mutation_p.A11T|GHR_uc021xyc.1_Missense_Mutation_p.A11T|GHR_uc011cpq.2_5'UTR|GHR_uc021xyd.1_Missense_Mutation_p.A11T NM_001242399 NP_001229328 P10912 GHR_HUMAN Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA. 11 2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GTTGACCTTGGCACTGGCAGG 0.453000 68 42 0 0 0.003610 0 0 STAU2 27067 broad.mit.edu 37 8 74528007 74528007 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:74528007G>A uc003xzm.3 - 7 922 c.581C>T c.(580-582)tCa>tTa p.S194L STAU2_uc011lfh.2_Missense_Mutation_p.S90L|STAU2_uc003xzn.3_Missense_Mutation_p.S162L|STAU2_uc011lfg.2_Missense_Mutation_p.S22L|STAU2_uc003xzo.3_Missense_Mutation_p.S194L|STAU2_uc003xzq.3_5'UTR|STAU2_uc003xzp.3_Missense_Mutation_p.S162L|STAU2_uc011lfi.2_Missense_Mutation_p.S156L|STAU2_uc010lzk.3_Missense_Mutation_p.S162L|STAU2_uc010lzl.1_Missense_Mutation_p.S22L NM_001164380 NP_001157855 Q9NUL3 STAU2_HUMAN Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA. 194 transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) ATCCTTTCCTGATTCACCATT 0.333000 13 40 0 0 0.006999 0 0 AIM1L 55057 broad.mit.edu 37 1 26672224 26672224 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:26672224G>A uc001bmd.4 - 1 1075 c.925C>T c.(925-927)Cct>Tct p.P309S NM_001039775 NP_001034864 Q8N1P7 AIM1L_HUMAN Homo sapiens absent in melanoma 1-like (AIM1L), mRNA. 0 sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) CAGGCTGCAGGGGCATCCTGA 0.642000 9 7 0 0 0.003080 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56704332 56704332 + Missense_Mutation SNP T A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:56704332T>A uc010ygh.2 - 0 90 c.90A>T c.(88-90)gaA>gaT p.E30D NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA. 30 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CAAGTTGAGTTTCTGGGGACG 0.557000 8 9 0 0 0.004482 0 0 PCDHB9 56127 broad.mit.edu 37 5 140567922 140567922 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:140567922C>T uc003liw.1 + 0 1030 c.1030C>T c.(1030-1032)Cct>Tct p.P344S NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN Homo sapiens protocadherin beta 9 (PCDHB9), mRNA. 344 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAATGACAATCCTCCTGAACT 0.378000 38 13 0 0 0.004990 0 0 VPS13D 55187 broad.mit.edu 37 1 12321991 12321991 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:12321991C>T uc001atv.3 + 12 1589 c.1448C>T c.(1447-1449)gCc>gTc p.A483V VPS13D_uc001atw.3_Missense_Mutation_p.A483V NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 483 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ACTGCAGATGCCTCGTGTATG 0.438000 57 36 0 0 0.003610 0 0 CEP250 11190 broad.mit.edu 37 20 34087914 34087914 + Missense_Mutation SNP C T T rs150723097 TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:34087914C>T uc021wco.1 + 27 4461 c.3814C>T c.(3814-3816)Cgt>Tgt p.R1272C CEP250_uc010zve.2_Missense_Mutation_p.R640C NM_007186 NP_009117 Q9BV73 CP250_HUMAN Homo sapiens centrosomal protein 250kDa (CEP250), mRNA. 1272 Gln/Glu-rich. G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) ACTGGAAGAGCGTCTAACTGA 0.512000 78 35 0 0 0.004878 0 0 DSG3 1830 broad.mit.edu 37 18 29055630 29055630 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr18:29055630G>A uc002kws.3 + 15 2516 c.2407G>A c.(2407-2409)Gaa>Aaa p.E803K DSG3_uc002kwt.3_Missense_Mutation_p.E85K NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 803 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CTGTGCGGAGGAAGACGATGG 0.423000 42 27 0 0 0.005443 0 0 NFXL1 152518 broad.mit.edu 37 4 47886451 47886451 + Missense_Mutation SNP G T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:47886451G>T uc010igh.3 - 14 2005 c.1828C>A c.(1828-1830)Cag>Aag p.Q610K NFXL1_uc003gxp.3_Missense_Mutation_p.Q610K|NFXL1_uc003gxq.4_Non-coding_Transcript|NFXL1_uc010igi.3_Missense_Mutation_p.Q610K NM_152995 NP_694540 Q6ZNB6 NFXL1_HUMAN Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA. 610 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4) 27 CCTGTAGGCTGGTGCTACAAA 0.383000 18 17 3.52763e-06 3.81246e-06 0.004990 1 0 PCSK5 5125 broad.mit.edu 37 9 78799588 78799588 + Splice_Site SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:78799588G>A uc004akc.2 + 17 2736 c.2198_splice c.e17-1 p.K733_splice PCSK5_uc004ajz.3_Splice_Site_p.K733_splice|PCSK5_uc004aka.3_Splice_Site|PCSK5_uc004akb.3_Intron NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 733 CRM (Cys-rich motif). 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 TTTTTTAACAGAGAAAAATCT 0.363000 5 12 0 0 0.001855 0 0 CXXC5 51523 broad.mit.edu 37 5 139060873 139060873 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:139060873C>T uc010jfg.1 + 1 1055 c.765C>T c.(763-765)tcC>tcT p.S255S CXXC5_uc003let.2_Silent_p.S255S NM_016463 NP_057547 Q7LFL8 CXXC5_HUMAN Homo sapiens CXXC finger protein 5 (CXXC5), mRNA. 255 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|nucleus DNA binding|signal transducer activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCATCAGCTCCGGCAAGAAGA 0.642000 56 24 0 0 0.003330 0 0 CELSR3 1951 broad.mit.edu 37 3 48666117 48666117 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:48666117G>A uc003cuf.1 - 50 11845 c.11845C>T c.(11845-11847)Cgc>Tgc p.R3949C CELSR3_uc003cug.3_Missense_Mutation_p.R523C|CELSR3_uc011bbp.2_Missense_Mutation_p.R508C|CELSR3_uc010hke.3_Missense_Mutation_p.R395C|CELSR3_uc003cuk.3_Missense_Mutation_p.R437C|CELSR3_uc003cuh.3_Missense_Mutation_p.R544C|CELSR3_uc003cui.3_Missense_Mutation_p.R544C|CELSR3_uc003cuj.3_Missense_Mutation_p.R544C NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA. 0 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding p.R544C(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GCCGAGGAGCGGAAGACCTTC 0.602000 29 16 0 0 0.004007 0 0 EPHB3 2049 broad.mit.edu 37 3 184298565 184298565 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:184298565C>T uc003foz.3 + 12 2874 c.2437C>T c.(2437-2439)Cgg>Tgg p.R813W NM_004443 NP_004434 P54753 EPHB3_HUMAN Homo sapiens EPH receptor B3 (EPHB3), mRNA. 813 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) CATAGCCTATCGGAAGTTCAC 0.607000 29 24 0 0 0.003330 0 0 SNRNP200 23020 broad.mit.edu 37 2 96957528 96957528 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:96957528G>A uc002svu.3 - 16 2403 c.2271C>T c.(2269-2271)gcC>gcT p.A757A NM_014014 NP_054733 O75643 U520_HUMAN Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA. 757 Helicase C-terminal 1. U5 snRNP|catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 CTTCTGTGGAGGCTGAGCCCT 0.587000 24 11 0 0 0.010729 0 0 TMEM2 23670 broad.mit.edu 37 9 74332991 74332991 + Nonsense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:74332991G>A uc011lsa.1 - 12 2812 c.2272C>T c.(2272-2274)Cga>Tga p.R758* TMEM2_uc010mos.2_Nonsense_Mutation_p.R695*|TMEM2_uc011lsb.1_Non-coding_Transcript NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA. 758 integral to membrane p.R758*(2) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) TGATGAGGTCGAAATCTAGGG 0.338000 13 26 0 0 0.005443 0 0 MAK 4117 broad.mit.edu 37 6 10830855 10830855 + Missense_Mutation SNP C G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:10830855C>G uc021ylk.1 - 1 309 c.27G>C c.(25-27)caG>caC p.Q9H SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.3_Non-coding_Transcript|MAK_uc010jou.3_Non-coding_Transcript|MAK_uc003mzm.3_Missense_Mutation_p.Q9H|MAK_uc021yll.1_Missense_Mutation_p.Q9H|MAK_uc010jov.2_Non-coding_Transcript|MAK_uc021ylm.1_Non-coding_Transcript NM_001242957 NP_001229886 P20794 MAK_HUMAN Homo sapiens male germ cell-associated kinase (MAK), transcript variant 3, mRNA. 9 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|cyclin-dependent protein kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1) 22 Breast(50;0.107)|Ovarian(93;0.107) all_hematologic(90;0.117) CGTCCCCCAACTGTCTCATGG 0.443000 65 62 0 0 0.003610 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41048515 41048515 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:41048515C>T uc003jmj.4 - 15 2085 c.1595G>A c.(1594-1596)gGg>gAg p.G532E HEATR7B2_uc003jmi.4_Missense_Mutation_p.G87E NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 532 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 CTTCAAAAGCCCTATTGCACC 0.453000 21 8 0 0 0.004482 0 0 MPDZ 8777 broad.mit.edu 37 9 13193234 13193234 + Nonsense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:13193234G>A uc010mia.1 - 12 1792 c.1735C>T c.(1735-1737)Cga>Tga p.R579* MPDZ_uc010mhz.3_Nonsense_Mutation_p.R579*|MPDZ_uc011lmn.2_Nonsense_Mutation_p.R579*|MPDZ_uc010mhy.3_Nonsense_Mutation_p.R579*|MPDZ_uc003zlb.4_Nonsense_Mutation_p.R579* NM_003829 NP_003820 O75970 MPDZ_HUMAN Homo sapiens multiple PDZ domain protein (MPDZ), mRNA. 579 PDZ 4. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) AGAACAGATCGGATAAAATGA 0.468000 15 24 0 0 0.004656 0 0 PTRF 284119 broad.mit.edu 37 17 40556804 40556804 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:40556804G>A uc002hzo.3 - 1 1297 c.1074C>T c.(1072-1074)gcC>gcT p.A358A PTRF_uc010wgi.2_Silent_p.A340A NM_012232 NP_036364 Q6NZI2 PTRF_HUMAN Homo sapiens polymerase I and transcript release factor (PTRF), mRNA. 358 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) GCAGGTCGCCGGCCTCCCCGC 0.711000 16 7 0 0 0.004482 0 0 PKD2L1 9033 broad.mit.edu 37 10 102089680 102089680 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:102089680C>T uc001kqx.1 - 0 564 c.181G>A c.(181-183)Gca>Aca p.A61T PKD2L1_uc009xwm.1_Silent_p.R6R NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA. 61 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) GTCCTGTATGCCGTCTCCTGG 0.587000 43 49 0 0 0.003610 0 0 KRT6B 3854 broad.mit.edu 37 12 52844254 52844254 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:52844254C>T uc001sak.3 - 1 739 c.691G>A c.(691-693)Gaa>Aaa p.E231K NM_005555 NP_005546 P04259 K2C6B_HUMAN Homo sapiens keratin 6B (KRT6B), mRNA. 231 Coil 1B.|Rod. ectoderm development keratin filament structural constituent of cytoskeleton NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) CGACCCCGTTCCCCCACGATG 0.567000 136 54 0 0 0.003610 0 0 CCNJ 54619 broad.mit.edu 37 10 97816742 97816742 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:97816742G>A uc010qoq.2 + 3 924 c.565G>A c.(565-567)Gaa>Aaa p.E189K LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CCNJ_uc001klm.3_Missense_Mutation_p.E189K|CCNJ_uc001kln.3_Missense_Mutation_p.E189K NM_001134375 NP_001127847 Q5T5M9 CCNJ_HUMAN Homo sapiens cyclin J (CCNJ), transcript variant 1, mRNA. 189 nucleus breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 11 Epithelial(162;6.1e-08)|all cancers(201;2.32e-06) TTACTTCCTGGAAGTATCTTT 0.423000 49 23 0 0 0.012319 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834048 125834048 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:125834048C>T uc001uhe.1 + 1 111 c.103C>T c.(103-105)Cct>Tct p.P35S TMEM132B_uc021rgl.1_5'UTR NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 35 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TTCCTCGCTCCCTGCTTACCT 0.478000 164 66 0 0 0.003610 0 0 UNK 85451 broad.mit.edu 37 17 73780868 73780868 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:73780868C>T uc002jpm.3 + 1 135 c.135C>T c.(133-135)ttC>ttT p.F45F UNK_uc021udd.1_5'UTR|MIR4738_uc021udc.1_5'Flank|UNK_uc002jpn.3_Non-coding_Transcript|UNK_uc002jpo.3_Non-coding_Transcript NM_001080419 NP_001073888 Q9C0B0 UNK_HUMAN Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA. 0 nucleic acid binding|zinc ion binding p.C45*(1) cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) TCTTCACGTTCTCGTGGCGCG 0.612000 25 8 0 0 0.004482 0 0 ZRSR1 7310 broad.mit.edu 37 5 112228138 112228138 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:112228138G>A uc021ycm.1 + 0 830 c.802G>A c.(802-804)Gaa>Aaa p.E268K SRP19_uc011cvu.2_3'UTR|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron RecName: Full=U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1; AltName: Full=CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 1; AltName: Full=U2(RNU2) small nuclear RNA auxiliary factor 1-like 1; breast(1)|skin(1)|stomach(2) 4 CTGCAATTTGGAACCTCACCT 0.473000 67 45 0 0 0.011902 0 0 PROKR2 128674 broad.mit.edu 37 20 5283061 5283061 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:5283061C>T uc010zqw.2 - 1 788 c.780G>A c.(778-780)acG>acA p.T260T PROKR2_uc010zqx.2_Silent_p.T260T|PROKR2_uc010zqy.2_Silent_p.T260T NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN Homo sapiens prokineticin receptor 2 (PROKR2), mRNA. 260 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 GAATCTGCTCCGTCTGGAACC 0.607000 HNSCC(71;0.22) 34 22 0 0 0.002299 0 0 CCT6P3 643180 broad.mit.edu 37 7 64525411 64525412 + RNA DNP AG TA TA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:64525411_64525412AG>TA uc003ttt.1 + 1 c.247_248AG>TA CCT6P3_uc010kzt.1_Non-coding_Transcript Homo sapiens chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3 (CCT6P3), non-coding RNA. TTAATAGCAAAGGTAGCAACAG 0.381000 174 6 0 0 0.004672 0 0 MUC16 94025 broad.mit.edu 37 19 9083630 9083630 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:9083630G>A uc002mkp.3 - 0 8389 c.8185C>T c.(8185-8187)Ccc>Tcc p.P2729S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2729 Ser-rich.|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 ATCTTAGAGGGGGAAGTGGAA 0.468000 61 34 0 0 0.005524 0 0 KCNH2 3757 broad.mit.edu 37 7 150648916 150648917 + Missense_Mutation DNP CC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:150648916_150648917CC>TT uc003wic.3 - 6 1965_1966 c.1564_1565GG>AA c.(1564-1566)ggg>AAg p.G522K KCNH2_uc003wib.3_Missense_Mutation_p.G182K|KCNH2_uc011kux.2_Missense_Mutation_p.G426K|KCNH2_uc003wid.3_Missense_Mutation_p.G182K|KCNH2_uc003wie.3_Missense_Mutation_p.G522K NM_000238 NP_000229 Q12809 KCNH2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA. 522 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity p.I521I(1) NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) CTTCAGCAGCCCGATCAGCTGG 0.668000 21 21 0 0 0.004672 0 0 CACNA1H 8912 broad.mit.edu 37 16 1250535 1250535 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:1250535C>T uc002cks.3 + 6 1331 c.1083C>T c.(1081-1083)ttC>ttT p.F361F CACNA1H_uc002ckt.3_Silent_p.F361F NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 361 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CCATCAACTTCGACAACATCG 0.647000 32 17 0 0 0.008871 0 0 SLC30A8 169026 broad.mit.edu 37 8 118165286 118165286 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:118165286G>A uc003yoh.3 + 2 605 c.375G>A c.(373-375)tcG>tcA p.S125S SLC30A8_uc010mcz.3_Silent_p.S76S|SLC30A8_uc003yog.3_Silent_p.S76S|SLC30A8_uc011lia.2_Silent_p.S76S|SLC30A8_uc022bab.1_Silent_p.S76S NM_173851 NP_001166286 Q8IWU4 ZNT8_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA. 125 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity p.S125*(2) breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) GGTTGTCATCGAAGCCTCCCT 0.527000 86 264 0 0 0.003610 0 0 NBPF10 100132406 broad.mit.edu 37 1 145323702 145323702 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:145323702C>T uc021oul.1 + 26 3574 c.3539C>T c.(3538-3540)cCc>cTc p.P1180L NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021oum.1_Intron|NBPF10_uc021oun.1_Intron|NBPF10_uc021ouo.1_Intron|NBPF10_uc021oup.1_Intron|NBPF10_uc010oyp.1_5'Flank NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 1180 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CCACCATGCCCCAGGTAACTG 0.453000 616 39 0 0 0.003610 0 0 GLP2R 9340 broad.mit.edu 37 17 9765377 9765377 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:9765377C>T uc002gmd.1 + 8 1026 c.1026C>T c.(1024-1026)atC>atT p.I342I NM_004246 NP_004237 O95838 GLP2R_HUMAN Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA. 342 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) TCTGGTGGATCATCCGAGGAC 0.507000 100 58 0 0 0.003610 0 0 ANK2 287 broad.mit.edu 37 4 114277530 114277530 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:114277530G>A uc003ibe.4 + 37 7856 c.7756G>A c.(7756-7758)Gag>Aag p.E2586K ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.E2601K NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 2553 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CACACCTGAAGAGGAGATGTT 0.383000 47 26 0 0 0.007291 0 0 OTOP2 92736 broad.mit.edu 37 17 72920757 72920757 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:72920757G>A uc010wrp.2 + 1 122 c.30G>A c.(28-30)aaG>aaA p.K10K USH1G_uc002jme.1_5'Flank|USH1G_uc010wro.1_5'Flank|OTOP2_uc002jmf.1_Silent_p.K10K NM_178160 NP_835454 Q7RTS6 OTOP2_HUMAN Homo sapiens otopetrin 2 (OTOP2), mRNA. 10 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) AGGGCCCCAAGGAGAGCCCCC 0.687000 12 13 0 0 0.001855 0 0 DSCAM 1826 broad.mit.edu 37 21 41424009 41424009 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr21:41424009C>T uc002yyq.1 - 29 5513 c.5061G>A c.(5059-5061)acG>acA p.T1687T DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 1687 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AGTCAGCATCCGTCAACAGAA 0.537000 49 25 0 0 0.002780 0 0 OR4D2 124538 broad.mit.edu 37 17 56247763 56247763 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:56247763G>A uc010wnp.2 + 0 747 c.747G>A c.(745-747)atG>atA p.M249I NM_001004707 NP_001004707 P58180 OR4D2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA. 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 TGGTTTCCATGATCTTCGTTC 0.532000 133 41 0 0 0.013114 0 0 AK022914 0 broad.mit.edu 37 14 19856895 19856895 + RNA SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:19856895A>G uc001vvq.1 - 4 c.635T>C Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445. AATTAGCCCAACTTCTGTGCT 0.368000 44 6 0 0 0.010729 0 0 ASIC2 40 broad.mit.edu 37 17 31438945 31438945 + Nonsense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:31438945C>T uc002hht.3 - 1 1722 c.849G>A c.(847-849)tgG>tgA p.W283* ASIC2_uc002hhu.3_Nonsense_Mutation_p.W232* NM_183377 NP_899233 Q16515 ACCN1_HUMAN Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA. 232 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CTGTCTCTCCCCAGATGGGCA 0.617000 80 26 0 0 0.006320 0 0 LRIT2 340745 broad.mit.edu 37 10 85982030 85982030 + Silent SNP G A A rs140213191 TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:85982030G>A uc010qmc.2 - 3 1337 c.1329C>T c.(1327-1329)ctC>ctT p.L443L LRIT2_uc001kcy.3_Silent_p.L433L NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA. 433 Fibronectin type-III. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 CCTCTAGGCTGAGGCAGGCCT 0.557000 79 44 0 0 0.003610 0 0 TRIM26 7726 broad.mit.edu 37 6 30166464 30166464 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:30166464C>T uc003npr.3 - 2 626 c.417G>A c.(415-417)gaG>gaA p.E139E TRIM26_uc003nps.3_Silent_p.E139E|TRIM26_uc003npt.3_Silent_p.E139E|TRIM26_uc010jry.3_5'UTR|TRIM26_uc003npu.1_Silent_p.E139E NM_003449 NP_003440 Q12899 TRI26_HUMAN Homo sapiens tripartite motif containing 26 (TRIM26), transcript variant 1, mRNA. 139 DNA binding|zinc ion binding lung(1)|ovary(2) 3 GGGCGGCCTTCTCCATGAGGA 0.642000 30 7 0 0 0.004482 0 0 C19orf18 147685 broad.mit.edu 37 19 58470085 58470085 + Splice_Site SNP A C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:58470085A>C uc002qqv.3 - 6 635 c.533_splice c.e6-1 p.V178_splice NM_152474 NP_689687 Q8NEA5 CS018_HUMAN Homo sapiens chromosome 19 open reading frame 18 (C19orf18), mRNA. 178 integral to membrane large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017) TGATATAATAACTAAAATGTA 0.308000 5 12 0 0 0.010729 0 0 CMYA5 202333 broad.mit.edu 37 5 79048514 79048514 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:79048514G>A uc003kgc.3 + 5 11079 c.11007G>A c.(11005-11007)atG>atA p.M3669I NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA. 3669 B-box coiled-coil; BBC. perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TTTCTGCAATGGAGAGCACTG 0.378000 28 25 0 0 0.005443 0 0 KRT38 8687 broad.mit.edu 37 17 39593779 39593779 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:39593779G>A uc002hwq.1 - 6 1679 c.1256C>T c.(1255-1257)cCg>cTg p.P419L NM_006771 NP_006762 O76015 KRT38_HUMAN Homo sapiens keratin 38 (KRT38), mRNA. 419 Tail. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) CGTGGAGCACGGATTGCAGGG 0.632000 12 12 0 0 0.001368 0 0 GAPT 202309 broad.mit.edu 37 5 57790406 57790406 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:57790406G>A uc003jro.1 + 2 437 c.43G>A c.(43-45)Gga>Aga p.G15R GAPT_uc021xyy.1_Missense_Mutation_p.G15R NM_152687 NP_689900 Q8N292 GAPT_HUMAN Homo sapiens GRB2-binding adaptor protein, transmembrane (GAPT), mRNA. 15 B cell activation integral to membrane|plasma membrane NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 CATTTCTGTAGGAATTTCGCT 0.403000 36 10 0 0 0.010729 0 0 FGD2 221472 broad.mit.edu 37 6 36978766 36978766 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:36978766C>T uc010jwp.1 + 2 489 c.318C>T c.(316-318)atC>atT p.I106I FGD2_uc011dtu.1_Silent_p.I106I|FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_Intron|FGD2_uc003oni.1_5'Flank NM_173558 NP_775829 Q7Z6J4 FGD2_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA. 106 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 AGAAGAAGATCGTCCAGGAGC 0.612000 66 17 0 0 0.008871 0 0 H2AFY 9555 broad.mit.edu 37 5 134724714 134724714 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:134724714G>A uc003lam.1 - 1 280 c.70C>T c.(70-72)Ccc>Tcc p.P24S H2AFY_uc003lao.1_Missense_Mutation_p.P24S|H2AFY_uc003lan.1_Missense_Mutation_p.P24S|H2AFY_uc011cxz.1_Missense_Mutation_p.P24S|H2AFY_uc003las.1_Missense_Mutation_p.P24S|H2AFY_uc003lat.1_Missense_Mutation_p.P24S NM_138610 NP_613258 O75367 H2AY_HUMAN Homo sapiens H2A histone family, member Y (H2AFY), transcript variant 3, mRNA. 24 Histone H2A. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CGCCCCACGGGAAAGATGACT 0.612000 42 16 0 0 0.004990 0 0 ODZ3 55714 broad.mit.edu 37 4 183713613 183713613 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:183713613G>A uc003ivd.1 + 24 5863 c.5788G>A c.(5788-5790)Gag>Aag p.E1930K NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 1930 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GGACTACAACGAGGAAGGGCT 0.488000 49 34 0 0 0.003755 0 0 ITIH5 80760 broad.mit.edu 37 10 7621865 7621865 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:7621865C>T uc021pmv.1 - 8 1377 c.1271G>A c.(1270-1272)cGa>cAa p.R424Q ITIH5_uc021pmu.1_Missense_Mutation_p.R210Q|ITIH5_uc001ijr.2_Missense_Mutation_p.R424Q NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA. 424 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 GGCGGCCTCTCGGGTGTTGTT 0.607000 40 17 0 0 0.006122 0 0 TMEM54 113452 broad.mit.edu 37 1 33366825 33366825 + Splice_Site SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:33366825G>A uc001bwi.1 - 1 130 c.16_splice c.e1+1 p.G6_splice TMEM54_uc001bwj.1_Splice_Site_p.G6_splice|TMEM54_uc001bwk.1_Splice_Site_p.G6_splice NM_033504 NP_277039 Q969K7 TMM54_HUMAN Homo sapiens transmembrane protein 54 (TMEM54), mRNA. 6 integral to membrane endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GTCGCTCACCGAGGCGCAGAC 0.776000 8 4 0 0 0.001168 0 0 TEX34 124783 broad.mit.edu 37 17 43332872 43332872 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:43332872G>A uc002iis.1 - 3 773 c.677C>T c.(676-678)cCc>cTc p.P226L LOC100133991_uc010dah.3_Intron|TEX34_uc010wjk.1_Missense_Mutation_p.P205L NM_152343 NP_689556 Q96LK8 CQ046_HUMAN Homo sapiens chromosome 17 open reading frame 46 (C17orf46), mRNA. 226 p.P226L(1) GGACAGGAGGGGGCTTGGTGC 0.632000 19 22 0 0 0.012319 0 0 FCRL6 343413 broad.mit.edu 37 1 159778028 159778028 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:159778028G>A uc001fud.4 + 2 155 c.113G>A c.(112-114)cGa>cAa p.R38Q FCRL6_uc010pix.1_Missense_Mutation_p.R33Q|FCRL6_uc001fuc.2_Missense_Mutation_p.R45Q|FCRL6_uc009wsz.1_Missense_Mutation_p.R38Q|FCRL6_uc009wta.3_Missense_Mutation_p.R38Q NM_001004310 NP_001004310 Q6DN72 FCRL6_HUMAN Homo sapiens Fc receptor-like 6 (FCRL6), mRNA. 38 Ig-like C2-type 1. integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) CTGACTCTGCGATGTCAGGGA 0.512000 58 12 0 0 0.010729 0 0 CCR2 729230 broad.mit.edu 37 3 46399759 46399759 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:46399759C>T uc003cpn.4 + 1 1226 c.741C>T c.(739-741)acC>acT p.T247T CCR2_uc003cpm.4_Silent_p.T247T|CCR2_uc021wxa.1_Silent_p.T247T NM_001123041 NP_001116513 P41597 CCR2_HUMAN Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA. 247 JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) TCATCTTCACCATCATGATTG 0.468000 102 71 0 0 0.003610 0 0 C17orf90 339229 broad.mit.edu 37 17 79633556 79633556 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:79633556G>A uc002kba.3 - 0 63 c.52C>T c.(52-54)Cgt>Tgt p.R18C C17orf90_uc002kbb.3_Missense_Mutation_p.R18C|CCDC137_uc002kbc.4_5'Flank NM_001039842 NP_001034931 Q5BKU9 CQ090_HUMAN Homo sapiens chromosome 17 open reading frame 90 (C17orf90), mRNA. 18 R -> L (in Ref. 1; AC139530). lung(2)|prostate(1) 3 all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) GCCGAGCCACGGACCGCGGCG 0.766000 9 3 0 0 0.009096 0 0 ZNF286A 57335 broad.mit.edu 37 17 15619830 15619830 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:15619830C>T uc010cot.3 + 5 1188 c.792C>T c.(790-792)gtC>gtT p.V264V ZNF286A_uc002goz.4_Silent_p.V152V|ZNF286A_uc010vwa.2_Silent_p.V264V|ZNF286A_uc002gpa.3_Silent_p.V264V NM_001130842 NP_065703 Q9HBT8 Z286A_HUMAN Homo sapiens zinc finger protein 286A (ZNF286A), transcript variant 2, mRNA. 264 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781) ACCAGAGAGTCCATACTGGAG 0.373000 32 17 0 0 0.008871 0 0 NEDD1 121441 broad.mit.edu 37 12 97311490 97311490 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:97311490C>T uc001tew.3 + 3 490 c.344C>T c.(343-345)tCa>tTa p.S115L NEDD1_uc001teu.4_Missense_Mutation_p.S108L|NEDD1_uc001tev.4_Missense_Mutation_p.S108L|NEDD1_uc010svc.2_Missense_Mutation_p.S19L|NEDD1_uc001tex.3_Missense_Mutation_p.S19L NM_001135175 NP_001128649 Q8NHV4 NEDD1_HUMAN Homo sapiens neural precursor cell expressed, developmentally down-regulated 1 (NEDD1), transcript variant 1, mRNA. 108 G2/M transition of mitotic cell cycle|cell division|mitosis cytosol breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8) 22 GATTTAAAATCAAAAAGAGTT 0.279000 113 52 0 0 0.003610 0 0 CIRH1A 84916 broad.mit.edu 37 16 69184786 69184787 + Nonsense_Mutation DNP CC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:69184786_69184787CC>TT uc002ews.4 + 7 1077_1078 c.981_982CC>TT c.(979-984)ctccga>ctTTga p.R328* CIRH1A_uc002ewr.2_Nonsense_Mutation_p.R328*|CIRH1A_uc002ewt.4_Nonsense_Mutation_p.R245*|CIRH1A_uc010cfi.3_Nonsense_Mutation_p.R245*|CIRH1A_uc010cfj.1_Nonsense_Mutation_p.R147* NM_032830 NP_116219 Q969X6 CIR1A_HUMAN Homo sapiens cirrhosis, autosomal recessive 1A (cirhin) (CIRH1A), mRNA. 328 nucleolus protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(108;0.125) ATGCCGCTCTCCGAAAAATCAC 0.530000 46 22 0 0 0.004672 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3139523 3139523 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:3139523C>T uc002ctv.1 - 4 1835 c.1747G>A c.(1747-1749)Gag>Aag p.E583K ZSCAN10_uc002cty.1_Missense_Mutation_p.E244K|ZSCAN10_uc002ctw.1_Missense_Mutation_p.E501K|ZSCAN10_uc002ctx.1_Missense_Mutation_p.E511K NM_032805 NP_116194 Q96SZ4 ZSC10_HUMAN Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA. 583 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 TCACCGCACTCGCTGCAGCGG 0.706000 10 5 0 0 0.001168 0 0 EMILIN2 84034 broad.mit.edu 37 18 2891755 2891755 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr18:2891755G>A uc002kln.3 + 3 1789 c.1630G>A c.(1630-1632)Gac>Aac p.D544N NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA. 544 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding p.K543K(1) breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) CCACCTGAAGGACAAAGTTCA 0.542000 53 29 0 0 0.008361 0 0 GALNT5 11227 broad.mit.edu 37 2 158115237 158115237 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:158115237G>A uc002tzg.3 + 0 898 c.643G>A c.(643-645)Gac>Aac p.D215N GALNT5_uc010zci.2_Non-coding_Transcript NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA. 215 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 AGCTGAAAGGGACTTGAATGT 0.493000 32 18 0 0 0.008871 0 0 C1orf31 388753 broad.mit.edu 37 1 234509472 234509472 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:234509472C>T uc001hwc.3 + 0 44 c.8C>T c.(7-9)cCg>cTg p.P3L C1orf31_uc001hwb.3_Intron NM_001012985 NP_001193570 Q5JTJ3 CA031_HUMAN Homo sapiens chromosome 1 open reading frame 31 (C1orf31), transcript variant 1, mRNA. 3 mitochondrion cytochrome-c oxidase activity breast(1)|kidney(1)|large_intestine(1)|lung(2) 5 Ovarian(103;0.0339) all_cancers(173;0.241)|Prostate(94;0.0353) OV - Ovarian serous cystadenocarcinoma(106;0.000263) ACTATGGGCCCGGGAGGTCCC 0.647000 137 52 0 0 0.003610 0 0 ASTN1 460 broad.mit.edu 37 1 177030324 177030324 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:177030324G>A uc001glc.3 - 1 573 c.361C>T c.(361-363)Cac>Tac p.H121Y ASTN1_uc001glb.1_Missense_Mutation_p.H121Y|ASTN1_uc001gld.1_Missense_Mutation_p.H121Y|ASTN1_uc009wwx.1_Missense_Mutation_p.H121Y NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 121 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 TGATGAATGTGAAAAAGCAAA 0.522000 256 78 0 0 0.003610 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77353924 77353924 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:77353924G>A uc002ffc.4 - 15 2773 c.2354C>T c.(2353-2355)tCc>tTc p.S785F ADAMTS18_uc010chc.1_Missense_Mutation_p.S373F|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S481F NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 785 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.S785S(1) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 GTAACTGGAGGAAACCTGCAG 0.537000 35 18 0 0 0.006122 0 0 UGT2B15 7366 broad.mit.edu 37 4 69519938 69519938 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:69519938C>T uc021xow.1 - 4 1288 c.1130G>A c.(1129-1131)gGa>gAa p.G377E NM_001076 NP_001067 P54855 UDB15_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA. 377 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity GCCATTGGTTCCACCATGAGT 0.388000 101 72 0 0 0.003610 0 0 PCNT 5116 broad.mit.edu 37 21 47805772 47805772 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr21:47805772G>A uc002zji.4 + 16 3445 c.3338G>A c.(3337-3339)aGt>aAt p.S1113N PCNT_uc002zjj.3_Missense_Mutation_p.S995N NM_006031 NP_006022 O95613 PCNT_HUMAN Homo sapiens pericentrin (PCNT), mRNA. 1113 G2/M transition of mitotic cell cycle|cilium assembly cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) TTATCCTTAAGTCACGAGATA 0.488000 81 59 0 0 0.003610 0 0 SLC25A13 10165 broad.mit.edu 37 7 95761084 95761084 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:95761084C>T uc003uog.4 - 14 1756 c.1565G>A c.(1564-1566)gGa>gAa p.G522E SLC25A13_uc003uof.4_Missense_Mutation_p.G521E|SLC25A13_uc011kik.2_Missense_Mutation_p.G413E NM_001160210 NP_001153682 Q9UJS0 CMC2_HUMAN Homo sapiens solute carrier family 25, member 13 (citrin) (SLC25A13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 521 ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) GAGCAGGCTTCCTGGGCTAAC 0.542000 37 37 0 0 0.003755 0 0 TNN 63923 broad.mit.edu 37 1 175097859 175097859 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:175097859G>A uc001gkl.1 + 14 3420 c.3307G>A c.(3307-3309)Gaa>Aaa p.E1103K NM_022093 NP_071376 Q9UQP3 TENN_HUMAN Homo sapiens tenascin N (TNN), mRNA. 1103 Fibrinogen C-terminal. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CTGTGACATGGAAACGGACGG 0.597000 81 12 0 0 0.001368 0 0 DAO 1610 broad.mit.edu 37 12 109294246 109294246 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:109294246G>A uc001tnr.4 + 10 1650 c.979G>A c.(979-981)Gcc>Acc p.A327T DAO_uc001tnq.4_Missense_Mutation_p.A261T|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript NM_001917 NP_001908 P14920 OXDA_HUMAN Homo sapiens D-amino-acid oxidase (DAO), mRNA. 327 glyoxylate metabolic process peroxisomal matrix D-amino-acid oxidase activity|binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1) 26 CCTGGAGGCAGCCAAGCTCTT 0.567000 51 32 0 0 0.012213 0 0 ZNF17 7565 broad.mit.edu 37 19 57931051 57931051 + Missense_Mutation SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:57931051T>C uc002qop.1 + 3 463 c.197T>C c.(196-198)gTt>gCt p.V66A ZNF17_uc021vck.1_Missense_Mutation_p.V57A|ZNF17_uc002qoo.1_Missense_Mutation_p.V64A NM_006959 NP_008890 P17021 ZNF17_HUMAN Homo sapiens zinc finger protein 17 (ZNF17), mRNA. 64 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) AAGCAATGTGTTTCTGTAGGA 0.488000 33 18 0 0 0.008871 0 0 MYH4 4622 broad.mit.edu 37 17 10362677 10362677 + Missense_Mutation SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:10362677T>C uc002gmn.3 - 14 1589 c.1478A>G c.(1477-1479)aAc>aGc p.N493S AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 493 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 CATGTGGTGGTTGAAAAACTG 0.473000 77 46 0 0 0.013114 0 0 ATP11B 23200 broad.mit.edu 37 3 182554169 182554169 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:182554169C>T uc003flb.3 + 5 720 c.463C>T c.(463-465)Cct>Tct p.P155S ATP11B_uc003fla.3_Missense_Mutation_p.P155S NM_014616 NP_055431 Q9Y2G3 AT11B_HUMAN Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA. 155 ATP biosynthetic process|aminophospholipid transport integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) TGAAATTTTTCCTGCAGACTT 0.393000 68 34 0 0 0.003271 0 0 FBXW10 10517 broad.mit.edu 37 17 18659368 18659368 + Missense_Mutation SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:18659368A>G uc002gul.3 + 4 1452 c.1220A>G c.(1219-1221)aAc>aGc p.N407S FBXW10_uc002guj.3_Missense_Mutation_p.N378S|FBXW10_uc002guk.3_Missense_Mutation_p.N378S|FBXW10_uc010cqh.2_Missense_Mutation_p.N378S NM_031456 NP_113644 Q5XX13 FBW10_HUMAN Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA. 378 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 AATGAGTACAACCTGTGGACT 0.478000 22 17 0 0 0.012319 0 0 ITGA4 3676 broad.mit.edu 37 2 182347248 182347248 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:182347248C>T uc002unu.3 + 8 1674 c.911C>T c.(910-912)tCg>tTg p.S304L ITGA4_uc010zfl.1_Missense_Mutation_p.S304L NM_000885 NP_000876 P13612 ITA4_HUMAN Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA. 304 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) CAGCTTGGATCGTACTTTGGA 0.483000 156 67 0 0 0.003610 0 0 CELF5 60680 broad.mit.edu 37 19 3281301 3281301 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:3281301C>T uc002lxm.3 + 5 745 c.708C>T c.(706-708)tcC>tcT p.S236S CELF5_uc010dtj.2_Silent_p.S236S|CELF5_uc002lxl.2_Silent_p.S236S|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript NM_021938 NP_068757 Q8N6W0 CELF5_HUMAN Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA. 236 mRNA processing cytoplasm|nucleus RNA binding|nucleotide binding kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1) 13 TGACGCCGTCCCTCACATTGC 0.647000 61 38 0 0 0.010771 0 0 FRY 10129 broad.mit.edu 37 13 32760500 32760501 + Missense_Mutation DNP GG AA AA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr13:32760500_32760501GG>AA uc001utx.3 + 26 3919_3920 c.3423_3424GG>AA c.(3421-3426)ctggat>ctAAat p.D1142N FRY_uc010tdw.2_Non-coding_Transcript NM_023037 NP_075463 Q5TBA9 FRY_HUMAN Homo sapiens furry homolog (Drosophila) (FRY), mRNA. 1142 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TCACTCCTCTGGATCGTTACAG 0.436000 21 28 0 0 0.004672 0 0 HAP1 9001 broad.mit.edu 37 17 39890869 39890869 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:39890869C>T uc002hxm.1 - 0 30 c.18G>A c.(16-18)ttG>ttA p.L6L JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Silent_p.L6L|HAP1_uc002hxo.1_Silent_p.L6L|HAP1_uc002hxp.1_Silent_p.L6L NM_177977 NP_817084 P54257 HAP1_HUMAN Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA. 6 brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) AGCACCGGCCCAACCTCTTCG 0.736000 9 4 0 0 0.000602 0 0 PROX2 283571 broad.mit.edu 37 14 75329969 75329969 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:75329969C>T uc021rwo.1 - 0 569 c.569G>A c.(568-570)gGt>gAt p.G190D PROX2_uc001xqp.2_Missense_Mutation_p.G190D|PROX2_uc001xqq.2_Missense_Mutation_p.G190D NM_001080408 NP_001229936 Q3B8N5 PROX2_HUMAN Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA. 190 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) CTGGTGGTCACCGTCCACAAC 0.602000 29 11 0 0 0.010729 0 0 CCL2 6347 broad.mit.edu 37 17 32583826 32583826 + Missense_Mutation SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:32583826A>G uc002hhy.3 + 2 353 c.280A>G c.(280-282)Acc>Gcc p.T94A NM_002982 NP_002973 P13500 CCL2_HUMAN Homo sapiens chemokine (C-C motif) ligand 2 (CCL2), mRNA. 94 G-protein signaling, coupled to cyclic nucleotide second messenger|JAK-STAT cascade|angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|helper T cell extravasation|humoral immune response|inflammatory response|macrophage chemotaxis|monocyte chemotaxis|positive regulation of T cell activation|positive regulation of nitric-oxide synthase biosynthetic process|viral genome replication extracellular space CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 6 Breast(3;0.00224) Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153) UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103) Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641) GGACAAGCAAACCCAAACTCC 0.493000 30 7 0 0 0.004482 0 0 UQCRC1 7384 broad.mit.edu 37 3 48642089 48642089 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:48642089G>A uc003cub.1 - 3 467 c.422C>T c.(421-423)cCg>cTg p.P141L NM_003365 NP_003356 P31930 QCR1_HUMAN Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA. 141 aerobic respiration|proteolysis metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) Atovaquone(DB01117) GTTACCTTTCGGCAGATCCTT 0.577000 20 19 0 0 0.010504 0 0 CUX2 23316 broad.mit.edu 37 12 111786114 111786114 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:111786114G>A uc001tsa.2 + 21 4600 c.4446G>A c.(4444-4446)ctG>ctA p.L1482L NM_015267 NP_056082 O14529 CUX2_HUMAN Homo sapiens cut-like homeobox 2 (CUX2), mRNA. 1482 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A1481D(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 AGGAGGCCCTGGAGTGGGAGT 0.567000 51 40 0 0 0.006999 0 0 TMEM38A 79041 broad.mit.edu 37 19 16799020 16799020 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:16799020C>T uc002nes.3 + 5 829 c.738C>T c.(736-738)ccC>ccT p.P246P NM_024074 NP_076979 Q9H6F2 TM38A_HUMAN Homo sapiens transmembrane protein 38A (TMEM38A), mRNA. 246 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1) 15 ACATCTGCCCCGTGCTGTTTG 0.637000 174 99 0 0 0.003610 0 0 CFHR1 3078 broad.mit.edu 37 1 196762504 196762504 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:196762504G>A uc001gtl.3 + 5 941 c.854G>A c.(853-855)aGa>aAa p.R285K CFH_uc021pgt.1_Intron|CFHR1_uc010poy.2_Missense_Mutation_p.R224K|CFHR1_uc001gtm.3_Intron NM_021023 NP_066303 Q03591 FHR1_HUMAN Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA. 283 Sushi 5. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 TTAAAAGGAAGAAGTGACAGA 0.264000 78 19 0 0 0.010504 0 0 C1orf168 199920 broad.mit.edu 37 1 57221585 57221585 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:57221585G>A uc001cym.4 - 6 1520 c.1114C>T c.(1114-1116)Ccc>Tcc p.P372S C1orf168_uc009vzu.1_Intron|C1orf168_uc001cyl.3_Non-coding_Transcript NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA. 372 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TCTGGATAGGGAAAATTCTTC 0.393000 21 14 0 0 0.001855 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212600 26212600 + Nonsense_Mutation SNP A T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:26212600A>T uc022buc.1 + 0 637 c.637A>T c.(637-639)Aaa>Taa p.K213* MAGEB6_uc004dbr.3_Nonsense_Mutation_p.K213* NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA. 213 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 GTTTGAGAAGAAAGAGTCCAT 0.473000 8 53 0 0 0.003610 0 0 ZNF730 100129543 broad.mit.edu 37 19 23329616 23329616 + RNA SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:23329616G>A uc002nrb.1 + 3 c.1969G>A Synthetic construct DNA, clone: pF1KB7766, Homo sapiens ZNF730 gene for zinc finger protein 730, without stop codon, in Flexi system. endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1) 16 CTACAAGTGTGAAGAATGTGA 0.348000 14 7 0 0 0.001984 0 0 KIAA1549 57670 broad.mit.edu 37 7 138603041 138603041 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:138603041G>A uc011kql.2 - 1 1380 c.1331C>T c.(1330-1332)tCa>tTa p.S444L KIAA1549_uc011kqj.2_Missense_Mutation_p.S444L NM_001164665 NP_001158137 Q9HCM3 K1549_HUMAN Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA. 444 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 ACCATCCCCTGATCCCACGTC 0.537000 O BRAF pilocytic astrocytoma 102 53 0 0 0.003610 0 0 MYH6 4624 broad.mit.edu 37 14 23863359 23863359 + Missense_Mutation SNP G A A rs147015593 TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:23863359G>A uc001wjv.3 - 20 2674 c.2603C>T c.(2602-2604)tCc>tTc p.S868F NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 868 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.S868F(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) GCGAGCCTCGGACTTCTCCAG 0.572000 38 40 0 0 0.009718 0 0 TCTN2 79867 broad.mit.edu 37 12 124171515 124171515 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:124171515C>T uc001ufp.3 + 5 825 c.697C>T c.(697-699)Ccc>Tcc p.P233S TCTN2_uc009zya.3_Missense_Mutation_p.P232S NM_024809 NP_079085 Q96GX1 TECT2_HUMAN Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA. 233 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) CGATTGGTTTCCCTTTCTGTG 0.567000 323 106 0 0 0.003610 0 0 SEMA3A 10371 broad.mit.edu 37 7 83640346 83640346 + Silent SNP C T T rs139214465 TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:83640346C>T uc003uhz.3 - 8 1302 c.987G>A c.(985-987)acG>acA p.T329T NM_006080 NP_006071 Q14563 SEM3A_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA. 329 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 ACCTGGAAGTCGTAAACACTC 0.294000 46 24 0 0 0.003330 0 0 KRBA1 84626 broad.mit.edu 37 7 149428761 149428761 + Splice_Site SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:149428761G>A uc003wfz.3 + 17 2543 c.2144_splice c.e17-1 p.G715_splice KRBA1_uc010lpj.3_Splice_Site|KRBA1_uc003wga.3_Splice_Site|KRBA1_uc003wgb.3_Splice_Site_p.G323_splice NM_032534 NP_115923 A5PL33 KRBA1_HUMAN Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA. 716 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TCTTTCTATAGGTACAGCTCA 0.502000 11 7 0 0 0.001984 0 0 METAP1D 254042 broad.mit.edu 37 2 172926242 172926242 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:172926242C>T uc002uhk.3 + 1 130 c.57C>T c.(55-57)ttC>ttT p.F19F METAP1D_uc010zdw.2_5'UTR NM_199227 NP_954697 Q6UB28 AMP1D_HUMAN Homo sapiens methionyl aminopeptidase type 1D (mitochondrial) (METAP1D), nuclear gene encoding mitochondrial protein, mRNA. 19 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 8 ATAGAATTTTCTCTTCACCAC 0.343000 74 52 0 0 0.003610 0 0 ZNF205 7755 broad.mit.edu 37 16 3165537 3165537 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:3165537C>T uc002cub.3 + 2 374 c.239C>T c.(238-240)tCt>tTt p.S80F MGC3771_uc010bte.2_Non-coding_Transcript|MGC3771_uc002ctz.3_Non-coding_Transcript|ZNF205_uc002cua.3_Missense_Mutation_p.S80F NM_001042428 NP_003447 O95201 ZN205_HUMAN Homo sapiens zinc finger protein 205 (ZNF205), transcript variant 2, mRNA. 80 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.G79D(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 AGTCACGGCTCTAAGGAGAAA 0.637000 12 14 0 0 0.002450 0 0 RPL23AP32 56969 broad.mit.edu 37 2 54756490 54756490 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:54756490C>T uc010yot.1 + 0 132 c.8C>T c.(7-9)cCg>cTg p.P3L SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA. AAGATGGCACCGAAAGTGAAG 0.458000 44 21 0 0 0.008871 0 0 CAPNS1 826 broad.mit.edu 37 19 36636934 36636934 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:36636934C>T uc002odi.1 + 7 739 c.582C>T c.(580-582)ctC>ctT p.L194L CAPNS1_uc002odk.3_Silent_p.L194L|CAPNS1_uc002odj.3_Silent_p.L194L|CAPNS1_uc002odl.3_Silent_p.L194L NM_001749 NP_001740 P04632 CPNS1_HUMAN Homo sapiens calpain, small subunit 1 (CAPNS1), transcript variant 1, mRNA. 194 EF-hand 3. positive regulation of cell proliferation cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GTAGTGAACTCCCAGGTGCCT 0.557000 149 76 0 0 0.003610 0 0 MPP7 143098 broad.mit.edu 37 10 28413985 28413985 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:28413985C>T uc001iua.1 - 8 887 c.483G>A c.(481-483)gcG>gcA p.A161A MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Silent_p.A161A|MPP7_uc009xla.2_Silent_p.A161A|MPP7_uc010qdv.1_Non-coding_Transcript NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA. 161 PDZ. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 CCACAATGATCGCCCCGGTCT 0.423000 52 33 0 0 0.006230 0 0 MSLNL 401827 broad.mit.edu 37 16 825618 825618 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:825618C>T uc002cjz.1 - 4 1143 c.1143G>A c.(1141-1143)ggG>ggA p.G381G NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN Homo sapiens mesothelin-like (MSLNL), mRNA. 105 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 GGCCCCGTTTCCCACATGTCG 0.721000 19 7 0 0 0.003080 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72462131 72462131 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:72462131G>A uc001jrg.3 + 2 586 c.586G>A c.(586-588)Gag>Aag p.E196K ADAMTS14_uc001jrh.3_Missense_Mutation_p.E196K NM_139155 NP_631894 Q8WXS8 ATS14_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA. 196 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 GGGCCAGCAGGAGAAGGAGGC 0.632000 39 31 0 0 0.012213 0 0 AKAP9 10142 broad.mit.edu 37 7 91715658 91715658 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:91715658G>A uc003ulg.3 + 36 9366 c.9141G>A c.(9139-9141)acG>acA p.T3047T AKAP9_uc003ulf.3_Silent_p.T3039T|AKAP9_uc003uli.3_Silent_p.T2670T|AKAP9_uc003ulj.3_Silent_p.T817T|AKAP9_uc003ulk.3_Silent_p.T322T NM_005751 NP_005742 Q99996 AKAP9_HUMAN Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA. 3051 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport Golgi apparatus|centrosome|cytosol receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CATTTCGGACGGAGCTGACAG 0.408000 T BRAF papillary thyroid 257 153 0 0 0.003610 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62855684 62855684 + Missense_Mutation SNP A C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:62855684A>C uc002jey.2 - 10 5196 c.4580T>G c.(4579-4581)cTt>cGt p.L1527R LRRC37A3_uc010wqg.1_Missense_Mutation_p.L645R|LRRC37A3_uc002jex.1_Missense_Mutation_p.L504R|LRRC37A3_uc010wqf.1_Missense_Mutation_p.L565R|LRRC37A3_uc010dek.1_Missense_Mutation_p.L533R|DQ578599_uc021ubv.1_5'Flank NM_199340 NP_955372 O60309 L37A3_HUMAN Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA. 1527 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 CCCACTGAGAAGCTTCATCAG 0.512000 299 106 0 0 0.003610 0 0 SLC38A4 55089 broad.mit.edu 37 12 47181798 47181798 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:47181798G>A uc001rpi.2 - 4 626 c.227C>T c.(226-228)tCc>tTc p.S76F SLC38A4_uc001rpj.2_Missense_Mutation_p.S76F|SLC38A4_uc009zkl.2_Missense_Mutation_p.S76F NM_018018 NP_060488 Q969I6 S38A4_HUMAN Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA. 76 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) CATTCCAAAGGAAGTGGTTCC 0.433000 20 16 0 0 0.004007 0 0 CERCAM 51148 broad.mit.edu 37 9 131185509 131185509 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:131185509C>T uc004buz.4 + 2 791 c.393C>T c.(391-393)acC>acT p.T131T CERCAM_uc004buy.1_Silent_p.T53T|CERCAM_uc010mxz.3_Silent_p.T53T|CERCAM_uc010mya.1_5'Flank NM_016174 NP_057258 Q5T4B2 GT253_HUMAN Homo sapiens cerebral endothelial cell adhesion molecule (CERCAM), mRNA. 131 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane p.R131C(1) endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2) 20 AAGCCCTCACCTTTGCCAGGA 0.542000 33 42 0 0 0.003610 0 0 USH2A 7399 broad.mit.edu 37 1 216371854 216371854 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:216371854C>T uc001hku.1 - 17 4271 c.3884G>A c.(3883-3885)cGa>cAa p.R1295Q USH2A_uc001hkv.3_Missense_Mutation_p.R1295Q NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 1295 Fibronectin type-III 3. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTGAAAAACTCGACTTTCCTC 0.373000 HNSCC(13;0.011) 52 36 0 0 0.004289 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117484 117484 + RNA SNP C A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrGL000205.1:117484C>A uc002kgk.4 + 0 c.862C>A Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. AGTGATCGTGCAGGTGGGCAG 0.572000 44 8 0.000274275 0.000295326 0.004482 1 0 OR7D4 125958 broad.mit.edu 37 19 9325295 9325295 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:9325295G>A uc002mla.2 - 0 253 c.219C>T c.(217-219)ttC>ttT p.F73F NM_001005191 NP_001005191 Q8NG98 OR7D4_HUMAN Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA. 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 TGGTGGAGATGAAACAGATGT 0.512000 48 29 0 0 0.007291 0 0 DMPK 1760 broad.mit.edu 37 19 46282618 46282618 + Splice_Site SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:46282618C>T uc002pdi.1 - 5 601 c.415_splice c.e5-1 p.V139_splice DMPK_uc010xxs.1_Splice_Site_p.V24_splice|DMPK_uc002pdd.1_Splice_Site_p.V123_splice|DMPK_uc002pde.1_Splice_Site_p.V123_splice|DMPK_uc002pdg.1_Splice_Site_p.V113_splice|DMPK_uc002pdf.1_Splice_Site_p.V113_splice|DMPK_uc002pdh.1_Splice_Site_p.V113_splice|DMPK_uc010xxt.1_Splice_Site_p.V113_splice|DMPK_uc010xxu.1_Intron NM_001081563 NP_001075032 Q09013 DMPK_HUMAN Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA. 123 Protein kinase. regulation of heart contraction ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24) AGCACGACACCTGCAGGGCAC 0.662000 67 30 0 0 0.007291 0 0 TMCC3 57458 broad.mit.edu 37 12 94975610 94975610 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:94975610C>T uc001tdj.2 - 1 901 c.783G>A c.(781-783)acG>acA p.T261T TMCC3_uc001tdi.2_Silent_p.T230T NM_020698 NP_065749 Q9ULS5 TMCC3_HUMAN Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA. 261 integral to membrane p.G260C(1) NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 29 CCGAGCCTGACGTGCCACTCG 0.597000 57 40 0 0 0.008740 0 0 DCAF16 54876 broad.mit.edu 37 4 17805290 17805290 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:17805290C>T uc003gpn.3 - 2 1536 c.475G>A c.(475-477)Gcc>Acc p.A159T DCAF16_uc021xmp.1_Missense_Mutation_p.A159T NM_017741 NP_060211 Q9NXF7 DCA16_HUMAN Homo sapiens DDB1 and CUL4 associated factor 16 (DCAF16), mRNA. 159 CUL4 RING ubiquitin ligase complex cervix(1)|endometrium(1)|lung(2)|ovary(1) 5 ATGGGAGTGGCTCTACTCAAT 0.463000 73 47 0 0 0.003610 0 0 STK11IP 114790 broad.mit.edu 37 2 220467489 220467489 + Silent SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:220467489A>G uc002vml.3 + 6 685 c.642A>G c.(640-642)ggA>ggG p.G214G STK11IP_uc010zlk.2_Silent_p.G203G|STK11IP_uc010zll.2_Silent_p.G203G|STK11IP_uc002vmm.1_Silent_p.G203G NM_052902 NP_443134 Q8N1F8 S11IP_HUMAN Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA. 214 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACTGTCAGGGATTCCTGATGG 0.527000 21 9 0 0 0.006214 0 0 ZCCHC14 23174 broad.mit.edu 37 16 87445949 87445949 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:87445949G>A uc002fjz.1 - 11 1994 c.1967C>T c.(1966-1968)tCc>tTc p.S656F ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Missense_Mutation_p.S432F NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA. 656 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) ATTAGGACAGGAAGTTTGCCC 0.537000 104 54 0 0 0.003610 0 0 RP1 6101 broad.mit.edu 37 8 55533886 55533887 + Missense_Mutation DNP CC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:55533886_55533887CC>TT uc003xsd.1 + 1 508_509 c.360_361CC>TT c.(358-363)gcccgt>gcTTgt p.R121C RP1_uc011ldy.1_Missense_Mutation_p.R121C NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 121 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) TGGACAAAGCCCGTCGGCGCCC 0.718000 22 33 0 0 0.004672 0 0 MAN1C1 57134 broad.mit.edu 37 1 26104797 26104797 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:26104797G>A uc001bkm.2 + 8 1789 c.1459G>A c.(1459-1461)Gag>Aag p.E487K MAN1C1_uc009vry.1_Missense_Mutation_p.E307K NM_020379 NP_065112 Q9NR34 MA1C1_HUMAN Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA. 487 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity p.E487*(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) GACGTGTCACGAGTCATACGC 0.607000 17 11 0 0 0.002450 0 0 TMEM187 8269 broad.mit.edu 37 X 153247741 153247741 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:153247741C>T uc022cic.1 + 0 228 c.228C>T c.(226-228)ggC>ggT p.G76G TMEM187_uc004fjq.2_Silent_p.G76G|MIR3202-2_uc022cib.1_5'Flank NM_003492 NP_003483 Q14656 TM187_HUMAN Homo sapiens transmembrane protein 187 (TMEM187), mRNA. 76 integral to membrane|transport vesicle breast(1)|large_intestine(1)|lung(1)|prostate(2) 5 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) ACAGGGGCGGCGCGATGGGGC 0.697000 8 43 0 0 0.007835 0 0 BRD4 23476 broad.mit.edu 37 19 15349758 15349758 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:15349758G>A uc002nar.3 - 18 4038 c.3816C>T c.(3814-3816)gcC>gcT p.A1272A NM_058243 NP_490597 O60885 BRD4_HUMAN Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA. 1272 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) GGGCCCGCCGGGCCTGCTCCA 0.697000 T C15orf55 lethal midline carcinoma of young people 6 3 0 0 0.000602 0 0 FSCB 84075 broad.mit.edu 37 14 44975203 44975203 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:44975203G>A uc001wvn.3 - 0 1297 c.988C>T c.(988-990)Cct>Tct p.P330S NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA. 330 Pro-rich. cilium p.P330S(2) breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) ATTTCAGCAGGAAACTCCACT 0.512000 57 29 0 0 0.006320 0 0 ZIM3 114026 broad.mit.edu 37 19 57646480 57646480 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:57646480G>A uc002qnz.1 - 4 1611 c.1225C>T c.(1225-1227)Cat>Tat p.H409Y NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA. 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTTTTCTGATGGCTATGAAGG 0.373000 73 56 0 0 0.003610 0 0 THAP9 79725 broad.mit.edu 37 4 83839810 83839810 + Silent SNP A T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:83839810A>T uc003hnt.2 + 4 2564 c.2445A>T c.(2443-2445)gtA>gtT p.V815V THAP9_uc003hns.1_Silent_p.V671V|THAP9_uc003hnu.1_Non-coding_Transcript|THAP9_uc003hnv.2_Silent_p.V532V NM_024672 NP_078948 Q9H5L6 THAP9_HUMAN Homo sapiens THAP domain containing 9 (THAP9), mRNA. 815 DNA binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3) 33 Hepatocellular(203;0.114) ATCTTTTTGTAGATGTGAATA 0.313000 39 17 0 0 0.008871 0 0 NKG7 4818 broad.mit.edu 37 19 51875431 51875431 + Silent SNP G A A rs144240268 TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:51875431G>A uc002pwj.3 - 1 459 c.288C>T c.(286-288)acC>acT p.T96T NKG7_uc002pwk.3_Silent_p.T61T NM_005601 NP_005592 Q16617 NKG7_HUMAN Homo sapiens natural killer cell group 7 sequence (NKG7), mRNA. 96 integral to plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CAAAGGCTGCGGTGGTTGAGA 0.622000 70 45 0 0 0.013114 0 0 GPATCH8 23131 broad.mit.edu 37 17 42478254 42478254 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:42478254G>A uc002igw.2 - 7 1410 c.1191C>T c.(1189-1191)atC>atT p.I397I GPATCH8_uc002igv.2_Silent_p.I319I|GPATCH8_uc010wiz.2_Silent_p.I319I NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA. 397 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GTGCTGGGGGGATGTAGTGGT 0.433000 OREG0024461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 86 41 0 0 0.009718 0 0 ERLIN1 10613 broad.mit.edu 37 10 101911954 101911954 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:101911954G>A uc001kqn.4 - 10 1332 c.981C>T c.(979-981)ctC>ctT p.L327L ERLIN1_uc001kqo.4_Silent_p.L327L|ERLIN1_uc010qpm.2_Silent_p.L243L NM_006459 NP_006450 O75477 ERLN1_HUMAN Homo sapiens ER lipid raft associated 1 (ERLIN1), mRNA. 325 ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding Colorectal(252;0.234) Epithelial(162;3.85e-10)|all cancers(201;3.25e-08) CCTTAGAGGGGAGTGAGCTTT 0.438000 31 23 0 0 0.002299 0 0 FAM190A 401145 broad.mit.edu 37 4 91549260 91549260 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:91549260G>A uc003hsv.4 + 5 2149 c.1809G>A c.(1807-1809)gcG>gcA p.A603A FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Silent_p.A603A NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA. 603 p.S602C(1) NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 GTCCATCTGCGGATTGGCCTC 0.443000 36 29 0 0 0.008361 0 0 FAM213B 127281 broad.mit.edu 37 1 2520471 2520471 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:2520471C>T uc001ajv.2 + 5 761 c.715C>T c.(715-717)Ccg>Tcg p.P239S FAM213B_uc021oew.1_Non-coding_Transcript|FAM213B_uc021oex.1_Silent_p.T67T|FAM213B_uc001ajw.2_Missense_Mutation_p.P210L|FAM213B_uc001aju.2_Missense_Mutation_p.P191S|FAM213B_uc010nzd.2_Missense_Mutation_p.P217S|FAM213B_uc010nze.2_Missense_Mutation_p.P185S|FAM213B_uc010nzf.2_Missense_Mutation_p.P184S|FAM213B_uc001ajx.2_Silent_p.T63T NM_001195736 NP_001182665 Q8TBF2 PGFS_HUMAN Homo sapiens family with sequence similarity 213, member B (FAM213B), transcript variant 1, mRNA. 191 prostaglandin biosynthetic process cytosol oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor TGCCAGCGACCCGCCTCAGGT 0.677000 36 18 0 0 0.002299 0 0 TEK 7010 broad.mit.edu 37 9 27172649 27172649 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:27172649C>T uc011lno.2 + 4 1106 c.664C>T c.(664-666)Cat>Tat p.H222Y TEK_uc010mjc.1_Missense_Mutation_p.H75Y|TEK_uc011lnn.1_Missense_Mutation_p.H222Y|TEK_uc003zqi.4_Missense_Mutation_p.H222Y|TEK_uc011lnp.2_Missense_Mutation_p.H118Y|TEK_uc003zqj.1_Missense_Mutation_p.H199Y NM_000459 NP_000450 Q02763 TIE2_HUMAN Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA. 222 EGF-like 1. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) TGAATGCAACCATCTCTGTAC 0.468000 12 12 0 0 0.001368 0 0 SVOPL 136306 broad.mit.edu 37 7 138305795 138305795 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:138305795G>A uc011kqh.2 - 12 1349 c.1349C>T c.(1348-1350)tCc>tTc p.S450F SVOPL_uc003vue.3_Missense_Mutation_p.S298F NM_001139456 NP_001132928 Q8N434 SVOPL_HUMAN Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA. 450 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 CTGTACCTGGGATATAAATGG 0.572000 38 12 0 0 0.006122 0 0 TSC2 7249 broad.mit.edu 37 16 2114419 2114419 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:2114419C>T uc002con.3 + 14 1696 c.1590C>T c.(1588-1590)atC>atT p.I530I TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Silent_p.I530I|TSC2_uc002coo.3_Silent_p.I530I|TSC2_uc010uvv.2_Silent_p.I493I|TSC2_uc010uvw.2_Silent_p.I481I|TSC2_uc002cop.3_Silent_p.I330I NM_000548 NP_000539 P49815 TSC2_HUMAN Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA. 530 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) TGCTGGACATCATCGAGAAGG 0.627000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 42 24 0 0 0.002780 0 0 LRRC61 65999 broad.mit.edu 37 7 150034461 150034461 + Nonsense_Mutation SNP G T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:150034461G>T uc003wgz.4 + 0 511 c.511G>T c.(511-513)Gag>Tag p.E171* LRRC61_uc003wgv.3_Nonsense_Mutation_p.E171*|LRRC61_uc003wgx.3_Nonsense_Mutation_p.E171*|LRRC61_uc003wgw.3_Nonsense_Mutation_p.E171* NM_023942 NP_076431 Q9BV99 LRC61_HUMAN Homo sapiens leucine rich repeat containing 61 (LRRC61), transcript variant 2, mRNA. 171 LRRCT. endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(82;0.011) GCGTGGTAGTGAGTTCTACCA 0.652000 39 34 4.11147e-13 4.47994e-13 0.003755 1 0 MUC16 94025 broad.mit.edu 37 19 9066038 9066038 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:9066038C>T uc002mkp.3 - 2 21612 c.21408G>A c.(21406-21408)acG>acA p.T7136T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7138 Ser-rich.|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 TGTCTGTGGTCGTTACCGGGC 0.517000 78 32 0 0 0.003271 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140754080 140754080 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:140754080G>A uc003ljy.2 + 0 430 c.430G>A c.(430-432)Gaa>Aaa p.E144K 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_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.E144K NM_018919 NP_061742 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA. 144 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) GAAAATTCTCGAAAACGCAGC 0.423000 31 21 0 0 0.010504 0 0 FMNL2 114793 broad.mit.edu 37 2 153475648 153475648 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:153475648C>T uc002tye.3 + 13 1970 c.1603C>T c.(1603-1605)Ccc>Tcc p.P535S FMNL2_uc010fob.3_5'Flank|FMNL2_uc002tyf.3_5'Flank NM_052905 NP_443137 Q96PY5 FMNL2_HUMAN Homo sapiens formin-like 2 (FMNL2), mRNA. 535 Pro-rich. 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 ACCACTGCCTCCCTCATCAGA 0.527000 15 9 0 0 0.008291 0 0 ITGAE 3682 broad.mit.edu 37 17 3646903 3646903 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:3646903C>T uc002fwo.4 - 18 2427 c.2328G>A c.(2326-2328)gaG>gaA p.E776E NM_002208 NP_002199 P38570 ITAE_HUMAN Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA. 776 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) AGCAGTCCTCCTCACAGAGCT 0.512000 95 52 0 0 0.003610 0 0 BTNL8 79908 broad.mit.edu 37 5 180335759 180335759 + Missense_Mutation SNP T A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:180335759T>A uc003mmp.3 + 1 457 c.223T>A c.(223-225)Ttt>Att p.F75I BTNL8_uc003mmq.3_Missense_Mutation_p.F75I|BTNL8_uc010jll.3_Missense_Mutation_p.F75I|BTNL8_uc011dhg.2_Intron|BTNL8_uc010jlm.3_Intron|BTNL8_uc011dhh.2_5'Flank NM_001040462 NP_001153182 Q6UX41 BTNL8_HUMAN Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA. 75 Ig-like V-type 1. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGACCAGCCATTTATGCAGAT 0.532000 133 81 0 0 0.003610 0 0 CLIP4 79745 broad.mit.edu 37 2 29366576 29366576 + Splice_Site SNP A T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:29366576A>T uc002rmv.3 + 7 888 c.649_splice c.e7-1 p.N217_splice CLIP4_uc002rmu.3_Splice_Site_p.N217_splice|CLIP4_uc010ezm.1_Splice_Site_p.N217_splice|CLIP4_uc002rmw.3_Splice_Site|CLIP4_uc010ymn.1_Splice_Site_p.N199_splice NM_024692 NP_078968 Q8N3C7 CLIP4_HUMAN Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA. 217 endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(172;0.155) TATTTGTAGAATGACAAAGGA 0.388000 65 23 0 0 0.003954 0 0 TBX19 9095 broad.mit.edu 37 1 168269660 168269660 + Splice_Site SNP A T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:168269660A>T uc001gfl.3 + 5 717 c.666_splice c.e5-1 p.R222_splice TBX19_uc001gfj.4_Splice_Site_p.R153_splice|TBX19_uc001gfm.3_Splice_Site NM_005149 NP_005140 O60806 TBX19_HUMAN Homo sapiens T-box 19 (TBX19), mRNA. 222 anatomical structure morphogenesis nucleus DNA binding NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) ACTCTTTCAGAAATCACCTAA 0.448000 44 16 0 0 0.007413 0 0 MPP7 143098 broad.mit.edu 37 10 28378660 28378660 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:28378660C>T uc001iua.1 - 13 1467 c.1063G>A c.(1063-1065)Gaa>Aaa p.E355K MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.E355K|MPP7_uc009xla.2_Missense_Mutation_p.E355K|MPP7_uc010qdv.1_Non-coding_Transcript NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA. 355 establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 GTCACTTCTTCGTATGTGGGT 0.378000 85 53 0 0 0.003610 0 0 BPIFB4 149954 broad.mit.edu 37 20 31678582 31678582 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:31678582G>A uc010zue.2 + 7 1135 c.1120G>A c.(1120-1122)Gaa>Aaa p.E374K NM_182519 NP_872325 P59827 LPLC4_HUMAN Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA. 374 cytoplasm|extracellular region lipid binding TGTGACCGGGGAATTCCTGGA 0.607000 26 15 0 0 0.004007 0 0 NBPF1 55672 broad.mit.edu 37 1 16902895 16902895 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:16902895G>A uc009vos.1 - 18 2874 c.1986C>T c.(1984-1986)tcC>tcT p.S662S NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Silent_p.S120S|NBPF1_uc010oce.1_Silent_p.S391S NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. 662 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCAATGAGCAGGAGGCATCTC 0.552000 360 55 0 0 0.003610 0 0 HEPH 9843 broad.mit.edu 37 X 65390556 65390556 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:65390556G>A uc011moz.2 + 1 443 c.306G>A c.(304-306)acG>acA p.T102T HEPH_uc004dwn.3_Silent_p.T51T|HEPH_uc004dwo.3_Intron|HEPH_uc010nkr.3_Silent_p.T51T|HEPH_uc011mpa.2_Silent_p.T51T NM_138737 NP_055614 Q9BQS7 HEPH_HUMAN Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA. 48 Plastocyanin-like 1. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 ATGTCATCACGAACCAGCCTC 0.512000 4 19 0 0 0.008871 0 0 COL19A1 1310 broad.mit.edu 37 6 70894800 70894800 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:70894800G>A uc003pfc.1 + 45 2966 c.2849G>A c.(2848-2850)gGa>gAa p.G950E NM_001858 NP_001849 Q14993 COJA1_HUMAN Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA. 950 Triple-helical region 5 (COL5). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging p.G950R(1)|p.G950*(1)|p.G950G(1) 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 GGCCCCAAAGGAGAACGTGTA 0.403000 7 10 0 0 0.010729 0 0 OXSR1 9943 broad.mit.edu 37 3 38278449 38278449 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:38278449C>T uc003chy.3 + 10 1413 c.1071C>T c.(1069-1071)ctC>ctT p.L357L OXSR1_uc010hhb.3_Silent_p.L291L NM_005109 NP_005100 O95747 OXSR1_HUMAN Homo sapiens oxidative-stress responsive 1 (OXSR1), mRNA. 357 intracellular protein kinase cascade|response to oxidative stress ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TTTCACAACTCAGGGTAAATT 0.378000 47 24 0 0 0.003330 0 0 LMF1 64788 broad.mit.edu 37 16 929698 929698 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:929698G>A uc021tae.1 - 5 773 c.769C>T c.(769-771)Cac>Tac p.H257Y LMF1_uc010uuu.2_Missense_Mutation_p.H40Y|LMF1_uc021tad.1_Missense_Mutation_p.H88Y|LMF1_uc010bri.2_Missense_Mutation_p.H20Y|LMF1_uc002ckk.2_Missense_Mutation_p.H40Y NM_022773 NP_073610 Q96S06 LMF1_HUMAN Homo sapiens lipase maturation factor 1 (LMF1), transcript variant 1, mRNA. 257 endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 18 Hepatocellular(780;0.00308) CAGGGTGAGTGGTGCAGGTAG 0.652000 6 5 0 0 0.001168 0 0 ELAC2 60528 broad.mit.edu 37 17 12898332 12898332 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:12898332G>A uc002gnz.4 - 19 1973 c.1856C>T c.(1855-1857)cCt>cTt p.P619L ELAC2_uc002gnu.4_Missense_Mutation_p.P16L|ELAC2_uc002gnv.4_Missense_Mutation_p.P247L|ELAC2_uc002gnx.4_Missense_Mutation_p.P379L|ELAC2_uc010vvo.2_Missense_Mutation_p.P417L|ELAC2_uc010vvp.2_Missense_Mutation_p.P600L|ELAC2_uc010vvq.2_Missense_Mutation_p.P618L|ELAC2_uc010vvr.2_Missense_Mutation_p.P579L NM_018127 NP_060597 Q9BQ52 RNZ2_HUMAN Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA. 619 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 TTCCACTGCAGGACTGGAGAT 0.478000 149 88 0 0 0.003610 0 0 CXADR 1525 broad.mit.edu 37 21 18937938 18937938 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr21:18937938C>T uc002yki.3 + 6 1250 c.1026C>T c.(1024-1026)gcC>gcT p.A342A CXADR_uc002ykh.2_3'UTR|CXADR_uc010gld.2_3'UTR|CXADR_uc010gle.2_3'UTR|CXADR_uc021whp.1_Silent_p.A301A|CXADR_uc002ykj.2_Intron NM_001338 NP_001329 P78310 CXAR_HUMAN Homo sapiens coxsackie virus and adenovirus receptor (CXADR), transcript variant 1, mRNA. 342 blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction receptor activity endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2) 11 Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782) AGGTAGCTGCCCCTAATCTAA 0.478000 47 27 0 0 0.009535 0 0 ARID1A 8289 broad.mit.edu 37 1 27100165 27100165 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:27100165C>T uc001bmv.1 + 15 4334 c.3961C>T c.(3961-3963)Cct>Tct p.P1321S ARID1A_uc001bmt.1_Missense_Mutation_p.P1320S|ARID1A_uc001bmu.1_Missense_Mutation_p.P1321S|ARID1A_uc001bmw.1_Missense_Mutation_p.P938S|ARID1A_uc001bmx.1_Missense_Mutation_p.P167S|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 1321 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GATGTATTCTCCTAGCCGCTA 0.607000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 51 30 0 0 0.010818 0 0 HS6ST3 266722 broad.mit.edu 37 13 97484834 97484834 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr13:97484834C>T uc001vmw.3 + 1 822 c.798C>T c.(796-798)acC>acT p.T266T NM_153456 NP_703157 Q8IZP7 H6ST3_HUMAN Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA. 266 integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) CTTGGAAAACCTCTCTTCATA 0.507000 14 8 0 0 0.004482 0 0 SUGP2 10147 broad.mit.edu 37 19 19121000 19121000 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:19121000G>A uc002nkz.1 - 4 2064 c.2044C>T c.(2044-2046)Cgc>Tgc p.R682C SUGP2_uc002nkx.2_Missense_Mutation_p.R668C|SUGP2_uc002nla.1_Missense_Mutation_p.R668C|SUGP2_uc002nlb.2_Missense_Mutation_p.R668C|SUGP2_uc010xqk.1_Missense_Mutation_p.R437C NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA. 668 RNA splicing|mRNA processing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 TTGAGGTTGCGGACAGCCCGG 0.652000 76 46 0 0 0.003610 0 0 SSPO 23145 broad.mit.edu 37 7 149502521 149502521 + Nonsense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:149502521G>A uc010lpk.3 + 56 8325 c.8325G>A c.(8323-8325)tgG>tgA p.W2775* NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 2778 TSP type-1 7. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGACGCCCTGGACTTCCTGGT 0.662000 42 33 0 0 0.007835 0 0 GRIN3B 116444 broad.mit.edu 37 19 1008150 1008150 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:1008150G>A uc002lqo.1 + 5 2326 c.2326G>A c.(2326-2328)Gga>Aga p.G776R FLJ00277_uc002lqp.1_Intron NM_138690 NP_619635 O60391 NMD3B_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA. 776 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CTATGGGATCGGACTGCCCCA 0.657000 6 5 0 0 0.000602 0 0 ATP2B1 490 broad.mit.edu 37 12 89998001 89998001 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:89998001G>A uc001tbh.3 - 14 2746 c.2565C>T c.(2563-2565)ttC>ttT p.F855F ATP2B1_uc001tbg.3_Silent_p.F855F|ATP2B1_uc001tbf.3_Silent_p.F525F NM_001682 NP_001673 P20020 AT2B1_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA. 855 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 GGAACTGAAGGAATTTTGAGA 0.383000 26 13 0 0 0.001368 0 0 LIMA1 51474 broad.mit.edu 37 12 50571449 50571449 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:50571449C>T uc001rwj.4 - 10 1852 c.1678G>A c.(1678-1680)Gac>Aac p.D560N LIMA1_uc001rwg.4_Missense_Mutation_p.D258N|LIMA1_uc001rwh.4_Missense_Mutation_p.D399N|LIMA1_uc001rwi.4_Missense_Mutation_p.D401N|LIMA1_uc001rwk.4_Missense_Mutation_p.D561N|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript NM_016357 NP_001230704 Q9UHB6 LIMA1_HUMAN Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA. 560 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2) 44 CTGATTTCGTCTTCAGGAGGC 0.507000 83 44 0 0 0.013114 0 0 MARCO 8685 broad.mit.edu 37 2 119752064 119752064 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:119752064G>A uc002tln.1 + 16 1663 c.1531G>A c.(1531-1533)Gag>Aag p.E511K MARCO_uc010yyf.1_Missense_Mutation_p.E433K NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 511 SRCR. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 CTGCAGCCACGAGGAGGACGC 0.597000 42 28 0 0 0.012213 0 0 CSMD1 64478 broad.mit.edu 37 8 2820050 2820050 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:2820050C>T uc022aqr.1 - 60 9956 c.9566G>A c.(9565-9567)gGa>gAa p.G3189E CSMD1_uc011kwj.2_Missense_Mutation_p.G2519E|CSMD1_uc010lrg.3_Missense_Mutation_p.G1081E NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 3190 Sushi 26. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TCTGGAGGATCCCACGAGTAT 0.512000 17 29 0 0 0.012213 0 0 SEZ6L 23544 broad.mit.edu 37 22 26736599 26736599 + Splice_Site SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:26736599G>A uc003acb.3 + 10 2408 c.2212_splice c.e10+1 p.E738_splice SEZ6L_uc003acd.3_Splice_Site_p.E738_splice|SEZ6L_uc011akd.2_Splice_Site_p.E738_splice|SEZ6L_uc003ace.3_Splice_Site_p.E738_splice|SEZ6L_uc011akc.2_Splice_Site_p.E738_splice|SEZ6L_uc003acc.3_Splice_Site_p.E738_splice|SEZ6L_uc003acf.1_Splice_Site_p.E511_splice|SEZ6L_uc010gvc.1_Splice_Site_p.E511_splice NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 738 CUB 3. endoplasmic reticulum membrane|integral to membrane p.?(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 AACTACATAGGTAGGTGTCTC 0.423000 32 21 0 0 0.008871 0 0 ZNF711 7552 broad.mit.edu 37 X 84525729 84525729 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:84525729C>T uc004eeq.3 + 9 2205 c.1319C>T c.(1318-1320)tCc>tTc p.S440F ZNF711_uc004eep.3_Missense_Mutation_p.S394F|ZNF711_uc004eeo.3_Missense_Mutation_p.S394F|ZNF711_uc011mqy.1_5'UTR NM_021998 NP_068838 Q9Y462 ZN711_HUMAN Homo sapiens zinc finger protein 711 (ZNF711), mRNA. 394 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding p.F439F(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 AAGTTTAAATCCAGGGGATTC 0.353000 2 11 0 0 0.001855 0 0 PEG10 23089 broad.mit.edu 37 7 94293046 94293046 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:94293046G>A uc003uno.3 + 1 657 c.178G>A c.(178-180)Gag>Aag p.E60K PEG10_uc011kie.2_Missense_Mutation_p.E136K|PEG10_uc022ahn.1_Missense_Mutation_p.E60K NM_015068 NP_055883 Q86TG7 PEG10_HUMAN Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA. 60 apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1) 21 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TGATGACATCGAGCTCCGCGG 0.582000 15 13 0 0 0.001368 0 0 TUBG2 27175 broad.mit.edu 37 17 40811916 40811916 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:40811916G>A uc010wgr.2 + 1 370 c.114G>A c.(112-114)gaG>gaA p.E38E TUBG2_uc002iap.3_5'UTR NM_016437 NP_057521 Q9NRH3 TBG2_HUMAN Homo sapiens tubulin, gamma 2 (TUBG2), mRNA. 38 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.141) GCATCGTGGAGGAATTCGCCA 0.667000 49 32 0 0 0.006999 0 0 AGAP3 116988 broad.mit.edu 37 7 150814262 150814262 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:150814262C>T uc003wjg.1 + 2 474 c.471C>T c.(469-471)tcC>tcT p.S157S AGAP3_uc003wje.1_5'UTR|AGAP3_uc003wjf.1_Silent_p.S157S|AGAP3_uc010lpy.1_Silent_p.S157S|AGAP3_uc003wjh.1_Silent_p.S337S NM_031946 NP_114152 Q96P47 AGAP3_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA. 121 Small GTPase-like. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 AGGAGGAGTCCCCTGAAGGTG 0.677000 48 50 0 0 0.003610 0 0 SLC2A11 66035 broad.mit.edu 37 22 24217312 24217312 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:24217312C>T uc011ajc.1 + 3 801 c.311C>T c.(310-312)tCc>tTc p.S104F SLC2A11_uc002zyl.1_Missense_Mutation_p.S104F|SLC2A11_uc002zym.4_Missense_Mutation_p.S104F|SLC2A11_uc002zyn.4_Missense_Mutation_p.S97F|SLC2A11_uc002zyo.4_Non-coding_Transcript|SLC2A11_uc011ajd.1_Missense_Mutation_p.S91F|SLC2A11_uc002zyp.4_Missense_Mutation_p.S100F Q9BYW1 GTR11_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 11 (SLC2A11), transcript variant 1, mRNA. 97 integral to membrane|plasma membrane sugar transmembrane transporter activity p.S104Y(2) endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 12 AGGAAGAAGTCCCTCCTGGTG 0.512000 34 17 0 0 0.007413 0 0 P2RX4 5025 broad.mit.edu 37 12 121660807 121660807 + Missense_Mutation SNP C G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:121660807C>G uc001tzr.3 + 4 789 c.485C>G c.(484-486)gCg>gGg p.A162G P2RX4_uc010szr.1_Intron|P2RX4_uc010szs.1_Intron|P2RX4_uc009zxc.3_Intron|P2RX4_uc010szt.2_Missense_Mutation_p.A61G|P2RX4_uc009zxb.3_Non-coding_Transcript NM_002560 NP_002551 Q99571 P2RX4_HUMAN Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 4 (P2RX4), mRNA. 162 endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis cell junction|perinuclear region of cytoplasm cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGTGAGGTGGCGGCCTGGTGC 0.562000 196 53 0 0 0.003610 0 0 SNX33 257364 broad.mit.edu 37 15 75942805 75942805 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:75942805G>A uc002bau.3 + 0 1458 c.1362G>A c.(1360-1362)ggG>ggA p.G454G IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.3_Intron NM_153271 NP_695003 Q8WV41 SNX33_HUMAN Homo sapiens sorting nexin 33 (SNX33), mRNA. 454 BAR. cell communication phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 19 AAGCCATCGGGGAGATGTTTG 0.552000 82 44 0 0 0.010771 0 0 ETS2 2114 broad.mit.edu 37 21 40191432 40191432 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr21:40191432C>T uc002yxf.3 + 8 1277 c.1237C>T c.(1237-1239)Ccc>Tcc p.P413S ETS2_uc002yxg.3_Missense_Mutation_p.P273S NM_005239 NP_005230 P15036 ETS2_HUMAN Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA. 273 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity p.M412I(1) NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) GCCAGGGACTCCCAAAGACCA 0.547000 27 19 0 0 0.008871 0 0 CASC3 22794 broad.mit.edu 37 17 38296815 38296815 + Missense_Mutation SNP G C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:38296815G>C uc010cwt.1 + 0 309 c.14G>C c.(13-15)cGg>cCg p.R5P CASC3_uc010cws.1_Missense_Mutation_p.R5P|CASC3_uc002hue.3_Missense_Mutation_p.R5P NM_007359 NP_031385 O15234 CASC3_HUMAN Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA. 5 RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm RNA binding|identical protein binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 GCGGACCGGCGGCGGCAGCGC 0.706000 66 12 0 0 0.003163 0 0 CUBN 8029 broad.mit.edu 37 10 17088024 17088024 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:17088024G>A uc001ioo.3 - 23 3451 c.3399C>T c.(3397-3399)atC>atT p.I1133I NM_001081 NP_001072 O60494 CUBN_HUMAN Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA. 1133 CUB 6. 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) TACTATGAGAGATGATTGTTG 0.378000 35 23 0 0 0.002299 0 0 AMDHD2 51005 broad.mit.edu 37 16 2577843 2577843 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:2577843C>T uc010uwc.2 + 4 582 c.485C>T c.(484-486)tCc>tTc p.S162F AMDHD2_uc002cqp.3_Missense_Mutation_p.S162F|AMDHD2_uc002cqq.3_Missense_Mutation_p.S162F|AMDHD2_uc010uwd.2_5'UTR NM_001145815 NP_001139287 Q9Y303 NAGA_HUMAN Homo sapiens amidohydrolase domain containing 2 (AMDHD2), transcript variant 2, mRNA. 162 N-acetylglucosamine metabolic process N-acetylglucosamine-6-phosphate deacetylase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2) 19 CACCTCCGCTCCTTCGAGGCC 0.692000 12 9 0 0 0.006214 0 0 STAT6 6778 broad.mit.edu 37 12 57499067 57499068 + Nonsense_Mutation DNP GG AA AA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:57499067_57499068GG>AA uc009zpg.3 - 8 1016_1017 c.1014_1015CC>TT c.(1012-1017)ttccag>ttTTag p.Q339* STAT6_uc009zpe.3_Nonsense_Mutation_p.Q290*|STAT6_uc001sna.3_Nonsense_Mutation_p.Q290*|STAT6_uc009zpf.3_Nonsense_Mutation_p.Q290*|STAT6_uc010srb.2_Nonsense_Mutation_p.Q180*|STAT6_uc010src.2_Nonsense_Mutation_p.Q180*|STAT6_uc010srd.2_Nonsense_Mutation_p.Q180* NM_001178081 NP_001171552 P42226 STAT6_HUMAN Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA. 290 regulation of transcription from RNA polymerase II promoter cytosol|nucleus DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 28 ACTCCAGCCTGGAACTTGGTCT 0.629000 39 25 0 0 0.004672 0 0 NEK10 152110 broad.mit.edu 37 3 27385792 27385792 + Silent SNP G A A rs150437265 by1000genomes TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:27385792G>A uc003cdt.2 - 5 607 c.333C>T c.(331-333)acC>acT p.T111T NEK10_uc021wuk.1_Silent_p.T111T NM_199347 NP_955379 Q6ZWH5 NEK10_HUMAN Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA. 111 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TCACCAAGGCGGTAAAGATCT 0.363000 11 7 0 0 0.004482 0 0 CCNE1 898 broad.mit.edu 37 19 30313187 30313187 + Missense_Mutation SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:30313187T>C uc002nsn.3 + 9 1064 c.881T>C c.(880-882)tTt>tCt p.F294S CCNE1_uc002nso.3_Missense_Mutation_p.F279S NM_001238 NP_001229 P24864 CCNE1_HUMAN Homo sapiens cyclin E1 (CCNE1), mRNA. 294 androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm androgen receptor binding|protein kinase binding|transcription coactivator activity endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1) 20 all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202) TGCCTTGAATTTCCTTATGGT 0.453000 A serous ovarian 86 53 0 0 0.003610 0 0 NLRP11 204801 broad.mit.edu 37 19 56321439 56321439 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:56321439C>T uc010ygf.2 - 4 1248 c.537G>A c.(535-537)atG>atA p.M179I NLRP11_uc002qlz.3_Missense_Mutation_p.M80I|NLRP11_uc002qmb.3_Missense_Mutation_p.M80I|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 179 NACHT. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CGTACGAGATCATGTTCTGCC 0.493000 19 13 0 0 0.001855 0 0 HRASLS 57110 broad.mit.edu 37 3 192973573 192973573 + Missense_Mutation SNP C A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:192973573C>A uc003fta.3 + 1 539 c.134C>A c.(133-135)cCt>cAt p.P45H NM_020386 NP_065119 Q9HDD0 HRSL1_HUMAN Homo sapiens HRAS-like suppressor (HRASLS), mRNA. 45 breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 10 all_cancers(143;9.1e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000159) AACATAGCACCTGTAGGTGAG 0.468000 90 55 3.10202e-16 3.39015e-16 0.003610 1 0 MMP28 79148 broad.mit.edu 37 17 34095331 34095331 + Nonsense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:34095331C>T uc002hjy.1 - 6 1174 c.915G>A c.(913-915)tgG>tgA p.W305* MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript NM_024302 NP_077278 Q9H239 MMP28_HUMAN Homo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA. 306 proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5) 16 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TGTAGGAGTCCCAGGTCTCAA 0.552000 44 26 0 0 0.004656 0 0 LPHN2 23266 broad.mit.edu 37 1 82432110 82432110 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:82432110C>T uc001dit.4 + 11 2296 c.2115C>T c.(2113-2115)atC>atT p.I705I LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.I705I|LPHN2_uc001div.3_Silent_p.I705I|LPHN2_uc009wcd.3_Silent_p.I705I|LPHN2_uc001diw.3_Silent_p.I289I NM_012302 NP_036434 O95490 LPHN2_HUMAN Homo sapiens latrophilin 2 (LPHN2), mRNA. 718 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TGGTGTTCATCATTTACCGGA 0.363000 28 15 0 0 0.004007 0 0 ZFP90 146198 broad.mit.edu 37 16 68598392 68598392 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:68598392C>T uc010cff.3 + 4 1994 c.1702C>T c.(1702-1704)Ctc>Ttc p.L568F ZFP90_uc002ewb.3_3'UTR|ZFP90_uc002ewc.3_3'UTR|ZFP90_uc002ewd.3_Missense_Mutation_p.L568F|ZFP90_uc002ewe.3_Missense_Mutation_p.L568F NM_133458 NP_597715 Q8TF47 ZFP90_HUMAN Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA. 568 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) AAGTTCATCTCTCATTCAGCA 0.438000 104 45 0 0 0.013114 0 0 PHF15 23338 broad.mit.edu 37 5 133909398 133909398 + Nonsense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:133909398C>T uc003kzk.2 + 9 1584 c.1546C>T c.(1546-1548)Cag>Tag p.Q516* PHF15_uc011cxt.1_Nonsense_Mutation_p.Q500*|PHF15_uc003kzl.2_Nonsense_Mutation_p.Q500*|PHF15_uc003kzm.2_Nonsense_Mutation_p.Q500*|PHF15_uc003kzn.2_Intron|PHF15_uc003kzo.1_Nonsense_Mutation_p.Q500*|PHF15_uc003kzp.3_Nonsense_Mutation_p.Q208* NM_015288 NP_056103 Q9NQC1 JADE2_HUMAN Homo sapiens PHD finger protein 15 (PHF15), mRNA. 500 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTGCAAACTCCAGGAGCAGAT 0.522000 40 27 0 0 0.005443 0 0 PAN3 255967 broad.mit.edu 37 13 28771364 28771364 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr13:28771364C>T uc001urz.3 + 4 885 c.733C>T c.(733-735)Ccg>Tcg p.P245S PAN3_uc010tdo.1_Missense_Mutation_p.P245S|PAN3_uc001ury.3_5'UTR|PAN3_uc001urx.3_Intron NM_175854 NP_787050 Q58A45 PAN3_HUMAN Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA. 245 Interaction with polyadenylate-binding protein. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) GAGGCTAGTTCCGATGGGATC 0.483000 8 13 0 0 0.004007 0 0 CLVS2 134829 broad.mit.edu 37 6 123369860 123369860 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:123369860G>A uc003pzi.1 + 3 1527 c.658G>A c.(658-660)Gag>Aag p.E220K NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN Homo sapiens clavesin 2 (CLVS2), mRNA. 220 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 TTTCCTGAAGGAGAAAACTCG 0.388000 36 58 0 0 0.003610 0 0 DSG4 147409 broad.mit.edu 37 18 28965108 28965108 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr18:28965108G>A uc002kwr.2 + 1 193 c.58G>A c.(58-60)Gaa>Aaa p.E20K DSG4_uc002kwq.2_Missense_Mutation_p.E20K NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 20 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GGTGGTGATGGAAGTAAACAG 0.229000 26 14 0 0 0.003163 0 0 DENND2A 27147 broad.mit.edu 37 7 140301517 140301517 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:140301517G>A uc010lnk.3 - 2 1201 c.681C>T c.(679-681)ccC>ccT p.P227P DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Silent_p.P227P|DENND2A_uc003vvw.3_Silent_p.P227P|DENND2A_uc003vvx.3_Silent_p.P227P NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA. 227 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) GCTCAGGGGTGGGCTCCCTGC 0.637000 164 94 0 0 0.003610 0 0 LRRC3B 116135 broad.mit.edu 37 3 26751332 26751332 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:26751332G>A uc003cdp.3 + 1 758 c.169G>A c.(169-171)Gaa>Aaa p.E57K LRRC3B_uc003cdq.3_Missense_Mutation_p.E57K|LRRC3B_uc021wuj.1_Missense_Mutation_p.E57K NM_052953 NP_443185 Q96PB8 LRC3B_HUMAN Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA. 57 LRRNT. integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 AAATCTCAAGGAAATACCTAG 0.413000 55 25 0 0 0.003954 0 0 C3 718 broad.mit.edu 37 19 6684608 6684608 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:6684608G>A uc002mfm.3 - 31 4145 c.4083C>T c.(4081-4083)ttC>ttT p.F1361F NM_000064 NP_000055 P01024 CO3_HUMAN Homo sapiens complement component 3 (C3), mRNA. 1361 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) CCTTGAGGTCGAATTTATTAC 0.483000 45 31 0 0 0.003755 0 0 ABCA3 21 broad.mit.edu 37 16 2338046 2338046 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:2338046C>T uc002cpy.1 - 20 3697 c.2985G>A c.(2983-2985)caG>caA p.Q995Q ABCA3_uc010bsk.1_Silent_p.Q937Q NM_001089 NP_001080 Q99758 ABCA3_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA. 995 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) CGCGGGGCTCCTGTCCCTCAG 0.672000 16 9 0 0 0.010729 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269947 150269947 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:150269947C>T uc003whl.3 + 2 871 c.789C>T c.(787-789)atC>atT p.I263I GIMAP4_uc011kuu.2_Silent_p.I124I|GIMAP4_uc011kuv.2_Silent_p.I277I NM_018326 NP_060796 Q9NUV9 GIMA4_HUMAN Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA. 263 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAGAGAAAATCAGAAAGCTGG 0.463000 21 16 0 0 0.004990 0 0 SCN10A 6336 broad.mit.edu 37 3 38739881 38739881 + Silent SNP G A A rs139221219 TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:38739881G>A uc003ciq.3 - 26 4830 c.4830C>T c.(4828-4830)atC>atT p.I1610I NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1610 sensory perception voltage-gated sodium channel complex p.I1610I(2) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GCAACAGCCCGATGTTGAAGA 0.552000 64 53 0 0 0.003610 0 0 GPR142 350383 broad.mit.edu 37 17 72368006 72368006 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:72368006G>A uc021ucp.1 + 3 656 c.647G>A c.(646-648)gGa>gAa p.G216E GPR142_uc010wqy.2_Missense_Mutation_p.G219E NM_181790 NP_861455 Q7Z601 GP142_HUMAN Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA. 219 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity p.F215L(1) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 CTCCTGCAGGGAGCAGTGCTG 0.632000 39 9 0 0 0.008291 0 0 GPR142 350383 broad.mit.edu 37 17 72363866 72363867 + Missense_Mutation DNP GG AA AA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:72363866_72363867GG>AA uc021ucp.1 + 0 222_223 c.213_214GG>AA c.(211-216)aaggac>aaAAac p.D72N GPR142_uc010wqy.2_Missense_Mutation_p.D75N NM_181790 NP_861455 Q7Z601 GP142_HUMAN Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA. 75 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity p.P72S(1) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 GGCCATCCAAGGACTCCAGCAG 0.564000 21 24 0 0 0.004672 0 0 MCM2 4171 broad.mit.edu 37 3 127334776 127334776 + Missense_Mutation SNP C A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:127334776C>A uc003ejp.3 + 8 1557 c.1500C>A c.(1498-1500)ttC>ttA p.F500L MCM2_uc011bkm.2_Missense_Mutation_p.F370L|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Missense_Mutation_p.F453L NM_004526 NP_004517 P49736 MCM2_HUMAN Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA. 500 MCM. 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|cell cycle checkpoint MCM complex|chromatin ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 TGGCCCTGTTCGGAGGGGAGC 0.537000 76 44 1.86633e-21 2.04889e-21 0.003610 1 0 ZNF167 55888 broad.mit.edu 37 3 44612222 44612222 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:44612222C>T uc003cnj.3 + 5 2036 c.1620C>T c.(1618-1620)gaC>gaT p.D540D ZNF167_uc003cnk.3_Intron|ZNF167_uc010hin.3_Silent_p.D540D|ZNF167_uc003cni.3_Intron|ZNF167_uc010hio.3_Intron NM_018651 NP_061121 Q9P0L1 ZN167_HUMAN Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA. 540 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609) ATCTCATTGACCATCAGAGAA 0.448000 55 55 0 0 0.003610 0 0 PRSS33 260429 broad.mit.edu 37 16 2836100 2836100 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:2836100C>T uc002cro.1 - 1 229 c.69G>A c.(67-69)agG>agA p.R23R PRSS33_uc002crp.1_Silent_p.R23R NM_152891 NP_690851 Q8NF86 PRS33_HUMAN Homo sapiens protease, serine, 33 (PRSS33), mRNA. 23 proteolysis serine-type endopeptidase activity prostate(1) 1 CTGCAGACTTCCTTCCCTGAG 0.612000 25 21 0 0 0.002780 0 0 PDPK1 5170 broad.mit.edu 37 16 2647217 2647218 + Missense_Mutation DNP CC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:2647217_2647218CC>TT uc002cqs.3 + 12 1639_1640 c.1495_1496CC>TT c.(1495-1497)cct>TTt p.P499F PDPK1_uc002cqt.3_Missense_Mutation_p.P372F|PDPK1_uc010bsn.3_Intron|PDPK1_uc002cqu.3_Missense_Mutation_p.P472F NM_002613 NP_002604 O15530 PDPK1_HUMAN Homo sapiens 3-phosphoinositide dependent protein kinase-1 (PDPK1), transcript variant 1, mRNA. 499 PH. T cell costimulation|T cell receptor signaling pathway|actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission cytosol|nucleoplasm|plasma membrane 3-phosphoinositide-dependent protein kinase activity|ATP binding central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 7 Ovarian(90;0.17) Celecoxib(DB00482) AGGTGAAATTCCTTGGTCACAA 0.446000 48 49 0 0 0.004672 0 0 CST9 128822 broad.mit.edu 37 20 23584341 23584341 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:23584341G>A uc002wtl.3 - 1 395 c.286C>T c.(286-288)Ctg>Ttg p.L96L NM_001008693 NP_001008693 Q5W186 CST9_HUMAN Homo sapiens cystatin 9 (testatin) (CST9), mRNA. 96 extracellular region cysteine-type endopeptidase inhibitor activity central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 12 Colorectal(13;0.0993) CGCAGTTGCAGATTCATGGAG 0.463000 89 49 0 0 0.003610 0 0 PMEPA1 56937 broad.mit.edu 37 20 56227489 56227489 + Nonsense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:56227489G>A uc002xyq.3 - 3 877 c.484C>T c.(484-486)Cag>Tag p.Q162* PMEPA1_uc002xyr.3_Nonsense_Mutation_p.Q112*|PMEPA1_uc002xys.3_Nonsense_Mutation_p.Q127*|PMEPA1_uc002xyt.3_Nonsense_Mutation_p.Q112* NM_020182 NP_954640 Q969W9 PMEPA_HUMAN Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA. 162 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 CAGGGGCCCTGGTAGGGTGGG 0.657000 18 10 0 0 0.006214 0 0 MAP4K4 9448 broad.mit.edu 37 2 102499089 102499089 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:102499089G>A uc002tbc.3 + 26 3648 c.3270G>A c.(3268-3270)gaG>gaA p.E1090E MAP4K4_uc002tbf.3_Silent_p.E1043E|MAP4K4_uc002tbd.3_Silent_p.E982E|MAP4K4_uc010yvy.2_Silent_p.E1005E|MAP4K4_uc002tbh.3_Silent_p.E927E|MAP4K4_uc002tbg.3_Silent_p.E1009E|MAP4K4_uc002tbi.3_Silent_p.E812E|MAP4K4_uc010yvz.2_Silent_p.E1049E|MAP4K4_uc002tbk.3_Silent_p.E464E|MAP4K4_uc021vlq.1_Silent_p.E195E|MAP4K4_uc002tbl.3_Silent_p.E195E NM_145687 NP_001229488 O95819 M4K4_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA. 1009 CNH.|Mediates interaction with RAP2A. intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CAGAAGTTGAGAAGAAGCAGG 0.338000 60 38 0 0 0.008740 0 0 RTN4 57142 broad.mit.edu 37 2 55254463 55254463 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:55254463C>T uc002rye.3 - 2 1070 c.772G>A c.(772-774)Gta>Ata p.V258I RTN4_uc002ryd.3_Missense_Mutation_p.V52I|RTN4_uc002ryf.3_Intron|RTN4_uc002ryg.3_Intron NM_020532 NP_997404 Q9NQC3 RTN4_HUMAN Homo sapiens reticulon 4 (RTN4), transcript variant 1, mRNA. 258 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 GTGGGTAATACTGTTGACAAA 0.413000 38 29 0 0 0.008361 0 0 CERKL 375298 broad.mit.edu 37 2 182412563 182412563 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:182412563C>T uc002unx.3 - 9 1324 c.1223G>A c.(1222-1224)gGa>gAa p.G408E CERKL_uc010frk.3_Intron|CERKL_uc002uny.3_Missense_Mutation_p.G382E|CERKL_uc010zfm.2_Missense_Mutation_p.G364E|CERKL_uc002unz.3_Missense_Mutation_p.G130E|CERKL_uc002uoa.3_Missense_Mutation_p.G313E|CERKL_uc002uob.3_Missense_Mutation_p.G130E|CERKL_uc002uoc.3_Missense_Mutation_p.G269E|CERKL_uc021vth.1_Missense_Mutation_p.G177E|CERKL_uc021vti.1_Missense_Mutation_p.G130E|CERKL_uc021vtj.1_Missense_Mutation_p.G85E|CERKL_uc021vtk.1_Missense_Mutation_p.G130E|CERKL_uc021vtl.1_Missense_Mutation_p.G85E|CERKL_uc021vtm.1_Missense_Mutation_p.G177E|CERKL_uc002uod.2_Missense_Mutation_p.G177E|CERKL_uc002uoe.3_3'UTR|CERKL_uc002unw.3_5'UTR NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA. 408 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis Golgi apparatus|endoplasmic reticulum|nucleolus diacylglycerol kinase activity p.P408L(1) NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) TTTGGGAGATCCCTGTGCCCT 0.393000 77 55 0 0 0.003610 0 0 NEUROG3 50674 broad.mit.edu 37 10 71332526 71332526 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:71332526C>T uc001jpp.3 - 1 520 c.274G>A c.(274-276)Gag>Aag p.E92K NEUROG3_uc021pry.1_Missense_Mutation_p.E92K NM_020999 NP_066279 Q9Y4Z2 NGN3_HUMAN Homo sapiens neurogenin 3 (NEUROG3), mRNA. 92 central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus transcription coactivator activity endometrium(4)|large_intestine(2)|lung(6)|prostate(1) 13 CGATTGCGCTCGCGGTCGTTG 0.657000 21 12 0 0 0.001368 0 0 PHRF1 57661 broad.mit.edu 37 11 609256 609257 + Missense_Mutation DNP CC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:609256_609257CC>TT uc001lqe.3 + 13 3931_3932 c.3800_3801CC>TT c.(3799-3801)gcc>gTT p.A1267V PHRF1_uc010qwc.2_Missense_Mutation_p.A1266V|PHRF1_uc010qwd.2_Missense_Mutation_p.A1265V|PHRF1_uc010qwe.2_Missense_Mutation_p.A1263V|PHRF1_uc009ybz.1_Missense_Mutation_p.A1057V|PHRF1_uc009yca.2_Non-coding_Transcript NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA. 1267 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 TCCGTGGAGGCCGGACACGTCT 0.619000 19 44 0 0 0.004672 0 0 NIPAL3 57185 broad.mit.edu 37 1 24768661 24768661 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:24768661C>T uc001bjh.3 + 3 686 c.279C>T c.(277-279)tcC>tcT p.S93S NIPAL3_uc010oek.2_Silent_p.S93S|NIPAL3_uc009vrc.3_Silent_p.S11S NM_020448 NP_065181 Q6P499 NPAL3_HUMAN Homo sapiens NIPA-like domain containing 3 (NIPAL3), mRNA. 93 integral to membrane endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1) 14 TGTTCGCCTCCTACGCCTTCG 0.637000 71 43 0 0 0.013114 0 0 UBQLNL 143630 broad.mit.edu 37 11 5537114 5537114 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:5537114G>A uc001maz.4 - 0 843 c.558C>T c.(556-558)tcC>tcT p.S186S HBG1_uc001mak.1_Intron NM_145053 NP_659490 Q8IYU4 UBQLN_HUMAN Homo sapiens ubiquilin-like (UBQLNL), mRNA. 186 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) ACTCCATGTTGGACAGAAGCC 0.483000 35 83 0 0 0.003610 0 0 TRIM36 55521 broad.mit.edu 37 5 114483050 114483050 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:114483050G>A uc003kqs.3 - 2 849 c.340C>T c.(340-342)Cct>Tct p.P114S TRIM36_uc011cwc.2_Missense_Mutation_p.P102S|TRIM36_uc003kqt.3_5'UTR NM_018700 NP_061170 Q9NQ86 TRI36_HUMAN Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA. 114 acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) CCAGGGCAAGGGAAAACAGTT 0.413000 70 27 0 0 0.003271 0 0 OR10A6 390093 broad.mit.edu 37 11 7949784 7949784 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:7949784C>T uc010rbh.2 - 0 426 c.426G>A c.(424-426)atG>atA p.M142I NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA. 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TAATTAATTTCATAAAAACTC 0.358000 6 21 0 0 0.012319 0 0 SVOPL 136306 broad.mit.edu 37 7 138312121 138312121 + Missense_Mutation SNP G T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:138312121G>T uc011kqh.2 - 10 1155 c.1155C>A c.(1153-1155)ttC>ttA p.F385L SVOPL_uc003vue.3_Missense_Mutation_p.F233L NM_001139456 NP_001132928 Q8N434 SVOPL_HUMAN Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA. 385 F -> C (in dbSNP:rs2305816). 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 TGAGGAGAAGGAAGAATAAAG 0.413000 21 17 5.03518e-11 5.46602e-11 0.007413 1 0 ANKRD30A 91074 broad.mit.edu 37 10 37430749 37430749 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:37430749C>T uc021ppc.1 + 6 855 c.756C>T c.(754-756)ccC>ccT p.P252P ANKRD30A_uc001iza.1_Silent_p.P252P NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 308 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AGGCTGCACCCTTGGTGGAAA 0.498000 32 19 0 0 0.008871 0 0 PANX3 116337 broad.mit.edu 37 11 124481543 124481543 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:124481543G>A uc001qah.3 + 0 91 c.91G>A c.(91-93)Gaa>Aaa p.E31K NM_052959 NP_443191 Q96QZ0 PANX3_HUMAN Homo sapiens pannexin 3 (PANX3), mRNA. 31 protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1) 26 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) ACTGCGTCTGGAACTGCCCCT 0.587000 11 29 0 0 0.010818 0 0 DNAH11 8701 broad.mit.edu 37 7 21695568 21695568 + Missense_Mutation SNP C A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:21695568C>A uc003svc.3 + 28 5109 c.5078C>A c.(5077-5079)cCa>cAa p.P1693Q NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 1693 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GAGTATGTCCCATTCCAAGCC 0.428000 Kartagener syndrome 50 18 8.34094e-07 9.02107e-07 0.008871 1 0 TAF3 83860 broad.mit.edu 37 10 8007004 8007004 + Missense_Mutation SNP G C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:8007004G>C uc010qbd.2 + 2 1531 c.1531G>C c.(1531-1533)Gag>Cag p.E511Q NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA. 511 Lys-rich. maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding p.E511E(1) NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 GGTGTATGAGGAGAAAACCAA 0.443000 69 45 0 0 0.003610 0 0 ABCA11P 79963 broad.mit.edu 37 4 436647 436647 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:436647C>T uc003gaf.4 - 2 1931 c.1705G>A c.(1705-1707)Gcc>Acc p.A569T ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.A537T|ABCA11P_uc010ibe.3_Missense_Mutation_p.A525T NM_133474 NP_597731 Homo sapiens zinc finger protein 721 (ZNF721), mRNA. TGTCTAAAGGCTTTGCCACAT 0.408000 116 4 0 0 0.009096 0 0 CPNE6 9362 broad.mit.edu 37 14 24546586 24546586 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:24546586G>A uc010tnv.2 + 15 1834 c.1688G>A c.(1687-1689)cGa>cAa p.R563Q CPNE6_uc001wlm.3_Missense_Mutation_p.R333Q|CPNE6_uc001wll.3_Missense_Mutation_p.R508Q|CPNE6_uc001wln.3_Missense_Mutation_p.R176Q NM_006032 NP_006023 O95741 CPNE6_HUMAN Homo sapiens copine VI (neuronal) (CPNE6), mRNA. 508 lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(265;0.0184) GTGCCCTTCCGAGACTTCAAG 0.617000 44 25 0 0 0.006320 0 0 PRKCE 5581 broad.mit.edu 37 2 46237610 46237610 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:46237610G>A uc002rut.3 + 9 1588 c.1391G>A c.(1390-1392)cGg>cAg p.R464Q NM_005400 NP_005391 Q02156 KPCE_HUMAN Homo sapiens protein kinase C, epsilon (PRKCE), mRNA. 464 Protein kinase. activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity MBOAT2/PRKCE(2) breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2) 34 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) GCTCTGGCACGGAAACACCCG 0.488000 42 24 0 0 0.003954 0 0 SPATA20 64847 broad.mit.edu 37 17 48628457 48628457 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:48628457G>A uc002ird.3 + 11 1623 c.1482G>A c.(1480-1482)cgG>cgA p.R494R SPATA20_uc002irc.3_Silent_p.R145R|SPATA20_uc002ire.3_Silent_p.R434R|SPATA20_uc002irf.3_Silent_p.R478R|SPATA20_uc002irg.3_Non-coding_Transcript NM_022827 NP_073738 Q8TB22 SPT20_HUMAN Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA. 478 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding p.V493L(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) AGGCCGTGCGGACCTTGCTCA 0.642000 OREG0024568 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 14 0 0 0.003163 0 0 GRIN3A 116443 broad.mit.edu 37 9 104499750 104499750 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:104499750G>A uc004bbp.2 - 0 1113 c.512C>T c.(511-513)tCg>tTg p.S171L GRIN3A_uc004bbq.1_Missense_Mutation_p.S171L NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 171 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GCTCCATGGCGAACTAGGGGA 0.607000 11 13 0 0 0.003163 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555345 44555345 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr18:44555345G>A uc010xdb.2 - 0 1105 c.869C>T c.(868-870)gCc>gTc p.A290V KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA. 290 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 GGAGGTCATGGCCTCAAAAGC 0.622000 252 21 0 0 0.008361 0 0 NPBWR2 2832 broad.mit.edu 37 20 62737657 62737657 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:62737657G>A uc011abt.2 - 0 528 c.528C>T c.(526-528)gtC>gtT p.V176V NM_005286 NP_005277 P48146 NPBW2_HUMAN Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA. 176 plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) GCAGAACCAGGACCGTGACGC 0.662000 18 4 0 0 0.009096 0 0 BMP2 650 broad.mit.edu 37 20 6759539 6759539 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:6759539C>T uc002wmu.1 + 2 1779 c.994C>T c.(994-996)Cct>Tct p.P332S NM_001200 NP_001191 P12643 BMP2_HUMAN Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA. 332 BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter extracellular space BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 13 Simvastatin(DB00641) ATGCCCTTTTCCTCTGGCTGA 0.507000 41 23 0 0 0.003330 0 0 abParts 0 broad.mit.edu 37 14 106354439 106354439 + Splice_Site SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:106354439C>T uc021ser.1 - 3852 c.57923_splice c.e3852-1 KIAA0125_uc001ysq.3_5'Flank|KIAA0125_uc001ysr.3_5'Flank Parts of antibodies, mostly variable regions. AATATGCTCACAGTGACACGA 0.577000 17 9 0 0 0.008291 0 0 CYP4X1 260293 broad.mit.edu 37 1 47515705 47515705 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:47515705G>A uc001cqt.3 + 11 1639 c.1389G>A c.(1387-1389)gaG>gaA p.E463E CYP4X1_uc001cqr.3_Silent_p.E462E|CYP4X1_uc001cqs.3_Silent_p.E398E NM_178033 NP_828847 Q8N118 CP4X1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA. 463 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 CCATGATTGAGTTAAAGGTAA 0.428000 71 44 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179456111 179456111 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:179456111G>A uc021vsy.1 - 252 52862 c.52637C>T c.(52636-52638)aCc>aTc p.T17546I MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T11241I|TTN_uc021vta.1_Missense_Mutation_p.T11174I|TTN_uc021vtb.1_Missense_Mutation_p.T11049I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 18473 Fibronectin type-III 27. 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) ACTCCCATCGGTTGTCCACTT 0.433000 233 127 0 0 0.003610 0 0 PIK3CG 5294 broad.mit.edu 37 7 106526703 106526703 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:106526703G>A uc003vdv.4 + 9 3081 c.2996G>A c.(2995-2997)gGa>gAa p.G999E PIK3CG_uc003vdu.3_Missense_Mutation_p.G999E|PIK3CG_uc003vdw.3_Missense_Mutation_p.G999E NM_002649 NP_002640 P48736 PK3CG_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA. 999 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 GGAACTTCTGGAAAGAAGACA 0.478000 57 35 0 0 0.006999 0 0 NOTCH3 4854 broad.mit.edu 37 19 15271902 15271902 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:15271902G>A uc002nan.3 - 32 6613 c.6537C>T c.(6535-6537)gcC>gcT p.A2179A NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Homo sapiens notch 3 (NOTCH3), mRNA. 2179 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GGCCTGGAGGGGCAGGTGGGG 0.731000 0 2 0 0 0.004672 0 0 NLRP3 114548 broad.mit.edu 37 1 247582221 247582221 + Missense_Mutation SNP C A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:247582221C>A uc001icr.3 + 2 263 c.125C>A c.(124-126)cCg>cAg p.P42Q NLRP3_uc001ics.3_Missense_Mutation_p.P42Q|NLRP3_uc001icu.3_Missense_Mutation_p.P42Q|NLRP3_uc001icw.3_Missense_Mutation_p.P42Q|NLRP3_uc001icv.3_Missense_Mutation_p.P42Q|NLRP3_uc010pyw.2_Missense_Mutation_p.P40Q|NLRP3_uc001ict.1_Missense_Mutation_p.P40Q NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 42 DAPIN. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.P42Q(2) NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) ATCCCCCTCCCGAGGGGTCAG 0.557000 38 15 4.93089e-13 5.36878e-13 0.002450 1 0 TRAT1 50852 broad.mit.edu 37 3 108568024 108568024 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:108568024G>A uc003dxi.1 + 4 370 c.226G>A c.(226-228)Gaa>Aaa p.E76K TRAT1_uc010hpx.1_Missense_Mutation_p.E39K NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA. 76 T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling T cell receptor complex|integral to plasma membrane phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 ACCAATGGATGAAAATTGCTA 0.343000 20 18 0 0 0.008871 0 0 TIMELESS 8914 broad.mit.edu 37 12 56822755 56822755 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:56822755G>A uc001slf.2 - 10 1384 c.1216C>T c.(1216-1218)Cgt>Tgt p.R406C TIMELESS_uc001slg.2_Missense_Mutation_p.R405C NM_003920 NP_003911 Q9UNS1 TIM_HUMAN Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA. 406 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 TGGAAGGTACGGACACTGAGG 0.552000 42 21 0 0 0.002299 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49969058 49969058 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:49969058C>T uc002pnt.3 + 12 1748 c.1632C>T c.(1630-1632)tcC>tcT p.S544S ALDH16A1_uc010yar.2_Silent_p.S493S|ALDH16A1_uc010yas.2_Silent_p.S379S|ALDH16A1_uc010yat.2_Silent_p.S381S NM_153329 NP_699160 Q8IZ83 A16A1_HUMAN Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA. 544 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) CCCGAAGCTCCAGGCCCATCC 0.662000 32 18 0 0 0.007413 0 0 CHST5 23563 broad.mit.edu 37 16 75563417 75563417 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:75563417C>T uc002fej.1 - 4 1205 c.884G>A c.(883-885)cGc>cAc p.R295H CHST5_uc002fei.3_Missense_Mutation_p.R289H|CHST5_uc021tlk.1_Missense_Mutation_p.R289H NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA. 289 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 CAGGCGGTAGCGGCCGCGCAG 0.716000 55 24 0 0 0.004656 0 0 OR51F1 256892 broad.mit.edu 37 11 4791139 4791139 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:4791139G>A uc010qyl.2 - 0 9 c.9C>T c.(7-9)atC>atT p.I3I NM_001004752 NP_001004752 A6NLW9 A6NLW9_HUMAN Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA. 3 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) AGTTGCTTAGGATTTCCATGG 0.388000 2 8 0 0 0.008291 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 118021 118021 + RNA SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrGL000205.1:118021G>A uc002kgk.4 + 0 c.1399G>A Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. GAATACGAGGGGCAGCCCTCG 0.567000 100 6 0 0 0.001168 0 0 KDM5C 8242 broad.mit.edu 37 X 53243945 53243945 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:53243945G>A uc004drz.3 - 7 1581 c.1048C>T c.(1048-1050)Cac>Tac p.H350Y KDM5C_uc022bxe.1_Missense_Mutation_p.H283Y|KDM5C_uc004dsa.3_Missense_Mutation_p.H349Y NM_004187 NP_004178 P41229 KDM5C_HUMAN Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA. 350 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 CAGAAGATGTGGTAGTTGTCA 0.567000 """N, F, S""" clear cell renal carcinoma 5 38 0 0 0.008740 0 0 POU2F2 5452 broad.mit.edu 37 19 42600283 42600283 + Missense_Mutation SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:42600283T>C uc002osp.3 - 7 676 c.614A>G c.(613-615)cAa>cGa p.Q205R POU2F2_uc002osn.3_Missense_Mutation_p.Q189R|POU2F2_uc002osq.3_Missense_Mutation_p.Q189R|POU2F2_uc002osr.2_Missense_Mutation_p.Q205R NM_001207025 NP_001193954 P09086 PO2F2_HUMAN Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA. 205 POU-specific. humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) GCGGGCGAATTGCTCCAGCTC 0.677000 13 10 0 0 0.008291 0 0 LRP1 4035 broad.mit.edu 37 12 57550673 57550673 + Missense_Mutation SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:57550673A>G uc001snd.3 + 9 1997 c.1531A>G c.(1531-1533)Agc>Ggc p.S511G NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 511 EGF-like 3. aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TTCCGGCTTCAGCCTGGGCAG 0.637000 13 6 0 0 0.008291 0 0 GPR98 84059 broad.mit.edu 37 5 90124894 90124894 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:90124894C>T uc003kju.3 + 76 16598 c.16502C>T c.(16501-16503)tCt>tTt p.S5501F GPR98_uc003kjt.3_Missense_Mutation_p.S3207F|GPR98_uc003kjw.3_Missense_Mutation_p.S1162F NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 5501 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) GTGTATTTTTCTGTGGGTTCT 0.438000 110 60 0 0 0.003610 0 0 SMYD2 56950 broad.mit.edu 37 1 214500988 214500988 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:214500988G>A uc021pix.1 + 6 659 c.626G>A c.(625-627)tGt>tAt p.C209Y SMYD2_uc021piw.1_Missense_Mutation_p.C117Y|SMYD2_uc009xdl.1_Non-coding_Transcript NM_020197 NP_064582 Q9NRG4 SMYD2_HUMAN Homo sapiens SET and MYND domain containing 2 (SMYD2), mRNA. 209 SET. negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent cytosol|nucleus RNA polymerase II core binding|histone methyltransferase activity (H3-K36 specific)|p53 binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144) AATCATAGCTGTTGCCCCAAT 0.458000 OREG0004276 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 151 46 0 0 0.003610 0 0 EVC2 132884 broad.mit.edu 37 4 5570324 5570324 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:5570324G>A uc003gij.3 - 19 3458 c.3404C>T c.(3403-3405)cCc>cTc p.P1135L EVC2_uc003gik.3_Missense_Mutation_p.P1055L|EVC2_uc011bwb.2_Missense_Mutation_p.P575L NM_147127 NP_667338 Q86UK5 LBN_HUMAN Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA. 1135 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 CGTGGCCCCGGGCACCATGGC 0.622000 25 13 0 0 0.002450 0 0 TDRD6 221400 broad.mit.edu 37 6 46660228 46660228 + Nonsense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:46660228C>T uc003oyj.3 + 0 4617 c.4363C>T c.(4363-4365)Caa>Taa p.Q1455* TDRD6_uc010jze.3_Nonsense_Mutation_p.Q1455* NM_001010870 NP_001010870 O60522 TDRD6_HUMAN Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA. 1455 Q -> R (in Ref. 3; CAI45997). 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) TGTTAAATTTCAAGACAGATG 0.373000 113 25 0 0 0.006320 0 0 GRIA3 2892 broad.mit.edu 37 X 122528859 122528859 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:122528859G>A uc004etq.4 + 5 1083 c.791G>A c.(790-792)gGa>gAa p.G264E GRIA3_uc004etr.4_Missense_Mutation_p.G264E|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.G248E NM_007325 NP_015564 P42263 GRIA3_HUMAN Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA. 264 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity p.G264E(4) breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) ATGCATGGGGGAGCCAACATT 0.428000 10 82 0 0 0.003610 0 0 SSFA2 6744 broad.mit.edu 37 2 182767010 182767010 + Silent SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:182767010T>C uc002uoi.3 + 7 1552 c.1230T>C c.(1228-1230)tcT>tcC p.S410S SSFA2_uc002uoh.3_Silent_p.S410S|SSFA2_uc002uoj.3_Silent_p.S410S|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Silent_p.S257S|SSFA2_uc002uol.3_Silent_p.S257S NM_001130445 NP_001123917 P28290 SSFA2_HUMAN Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA. 410 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) GTGAGGAATCTGGTATTGTAG 0.358000 28 16 0 0 0.006122 0 0 KCTD20 222658 broad.mit.edu 37 6 36454878 36454878 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:36454878C>T uc003ome.3 + 7 1577 c.1186C>T c.(1186-1188)Cca>Tca p.P396S KCTD20_uc011dtn.2_Missense_Mutation_p.P150S|KCTD20_uc010jwk.3_Missense_Mutation_p.P230S|KCTD20_uc011dto.2_Missense_Mutation_p.P150S|KCTD20_uc011dtm.2_Missense_Mutation_p.P251S NM_173562 NP_775833 Q7Z5Y7 KCD20_HUMAN Homo sapiens potassium channel tetramerisation domain containing 20 (KCTD20), mRNA. 396 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1) 15 AATGCATCACCCACCCCAAGT 0.498000 178 67 0 0 0.003610 0 0 CFHR1 3078 broad.mit.edu 37 1 196757423 196757423 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:196757423G>A uc001gtl.3 + 3 595 c.508G>A c.(508-510)Gaa>Aaa p.E170K CFH_uc021pgt.1_Intron|CFHR1_uc001gtk.3_Missense_Mutation_p.E170K|CFHR1_uc010poy.2_Intron|CFHR1_uc001gtm.3_Intron NM_021023 NP_066303 Q03591 FHR1_HUMAN Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA. 171 Sushi 3. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 tttaaataaagaaatacaata 0.294000 18 19 0 0 0.006122 0 0 GLYAT 10249 broad.mit.edu 37 11 58478113 58478113 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:58478113G>A uc001nnb.3 - 4 593 c.438C>T c.(436-438)ttC>ttT p.F146F GLYAT_uc001nnc.3_Silent_p.F146F NM_201648 NP_964011 Q6IB77 GLYAT_HUMAN Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 146 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) ATTTCAGCAGGAAAGGAGTCA 0.418000 24 92 0 0 0.003610 0 0 CELSR1 9620 broad.mit.edu 37 22 46794452 46794452 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:46794452G>A uc003bhw.1 - 10 5495 c.5495C>T c.(5494-5496)tCc>tTc p.S1832F CELSR1_uc011arc.1_Missense_Mutation_p.S153F NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA. 1832 Laminin G-like 2. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) ACGGCGCACGGAGACCTTGTC 0.682000 40 20 0 0 0.002299 0 0 COL6A2 1292 broad.mit.edu 37 21 47546096 47546096 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr21:47546096C>T uc002zia.1 + 25 2449 c.2367C>T c.(2365-2367)ttC>ttT p.F789F COL6A2_uc002zhz.1_Silent_p.F789F|COL6A2_uc002zhy.1_Silent_p.F789F|COL6A2_uc010gqe.2_5'Flank NM_001849 NP_001840 P12110 CO6A2_HUMAN Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA. 789 Nonhelical region.|VWFA 2. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) TGACGCTGTTCTCCGACCTGG 0.627000 181 97 0 0 0.003610 0 0 PLEK 5341 broad.mit.edu 37 2 68622819 68622819 + Missense_Mutation SNP G C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:68622819G>C uc002sen.4 + 8 1086 c.924G>C c.(922-924)aaG>aaC p.K308N PLEK_uc010fde.3_3'UTR NM_002664 NP_002655 P08567 PLEK_HUMAN Homo sapiens pleckstrin (PLEK), mRNA. 308 PH 2. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) CAGGCAGGAAGAGTGAGGAAG 0.512000 78 36 0 0 0.006230 0 0 TBC1D24 57465 broad.mit.edu 37 16 2546535 2546535 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:2546535C>T uc002cql.3 + 1 526 c.386C>T c.(385-387)tCc>tTc p.S129F TBC1D24_uc002cqk.3_Missense_Mutation_p.S129F|TBC1D24_uc002cqm.3_Missense_Mutation_p.S129F|TBC1D24_uc010bsm.3_5'Flank NM_001199107 NP_001186036 Q9ULP9 TBC24_HUMAN Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 1, mRNA. 129 Rab-GAP TBC. neuron projection development cytoplasm Rab GTPase activator activity|protein binding endometrium(2)|kidney(4)|large_intestine(3)|lung(4) 13 CCCGACATCTCCTTCTGCCCC 0.667000 44 13 0 0 0.003163 0 0 ATP13A1 57130 broad.mit.edu 37 19 19767485 19767485 + Missense_Mutation SNP G C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:19767485G>C uc002nnh.4 - 6 1095 c.1067C>G c.(1066-1068)tCc>tGc p.S356C ATP13A1_uc002nnf.4_5'Flank|ATP13A1_uc002nng.3_Missense_Mutation_p.S238C NM_020410 NP_065143 Q9HD20 AT131_HUMAN Homo sapiens ATPase type 13A1 (ATP13A1), mRNA. 356 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 CTGTGGCACGGACTCCCCCGT 0.647000 16 6 0 0 0.001984 0 0 ADAM33 80332 broad.mit.edu 37 20 3655201 3655201 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:3655201G>A uc002wit.3 - 5 637 c.550C>T c.(550-552)Cct>Tct p.P184S ADAM33_uc002wir.1_Missense_Mutation_p.P184S|ADAM33_uc002wis.3_5'Flank|ADAM33_uc002wiu.3_Missense_Mutation_p.P184S|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.P196S|ADAM33_uc010zqh.1_Missense_Mutation_p.P184S NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA. 184 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 TTGTTCCCAGGATCCCTGTGG 0.612000 57 32 0 0 0.004289 0 0 DAB2 1601 broad.mit.edu 37 5 39381627 39381627 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:39381627G>A uc003jlx.3 - 10 1964 c.1433C>T c.(1432-1434)gCc>gTc p.A478V DAB2_uc003jlw.3_Missense_Mutation_p.A457V NM_001343 NP_001334 P98082 DAB2_HUMAN Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA. 478 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) GGGCTGCAGGGCTGTAGGTTG 0.542000 68 35 0 0 0.003755 0 0 TCEB3 6924 broad.mit.edu 37 1 24080687 24080687 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:24080687C>T uc001bho.3 + 5 1773 c.1713C>T c.(1711-1713)ctC>ctT p.L571L NM_003198 NP_003189 Q14241 ELOA1_HUMAN Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA. 571 Activation domain (By similarity). positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) GTGCCTATCTCCCTAAAATGA 0.453000 52 36 0 0 0.007835 0 0 GYPA 2993 broad.mit.edu 37 4 145038032 145038032 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:145038032G>A uc003ijo.4 - 4 448 c.332C>T c.(331-333)tCt>tTt p.S111F GYPA_uc003ijn.2_Intron|GYPA_uc011cia.2_Non-coding_Transcript|GYPA_uc011cib.2_Missense_Mutation_p.S78F|GYPA_uc003ijp.4_Missense_Mutation_p.S79F|GYPA_uc010ioq.3_Missense_Mutation_p.S98F|GYPA_uc010ior.3_Missense_Mutation_p.S46F|GYPA_uc010ios.1_Non-coding_Transcript NM_002099 NP_002090 P02724 GLPA_HUMAN Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA. 111 interspecies interaction between organisms membrane fraction receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 all_hematologic(180;0.15) AATACCGTAAGAAATTAAGAG 0.373000 94 57 0 0 0.003610 0 0 TTLL4 9654 broad.mit.edu 37 2 219617635 219617635 + Silent SNP A T T rs139732351 TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:219617635A>T uc002viy.3 + 16 3496 c.3126A>T c.(3124-3126)ccA>ccT p.P1042P TTLL4_uc010zkl.1_Silent_p.P877P|TTLL4_uc010fvx.3_Silent_p.P978P|TTLL4_uc010zkm.1_Silent_p.P245P NM_014640 NP_055455 Q14679 TTLL4_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA. 1042 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) TTGAGCAGCCACGATATTTCA 0.453000 98 12 0 0 0.003163 0 0 STAG2 10735 broad.mit.edu 37 X 123227933 123227933 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:123227933C>T uc004eua.3 + 32 4048 c.3644C>T c.(3643-3645)tCa>tTa p.S1215L STAG2_uc004etz.4_Missense_Mutation_p.S1178L|STAG2_uc004eub.3_Missense_Mutation_p.S1178L|STAG2_uc004euc.3_Missense_Mutation_p.S1215L|STAG2_uc004eud.3_Missense_Mutation_p.S1178L|STAG2_uc004eue.3_Missense_Mutation_p.S1178L NM_001042749 NP_001036215 Q8N3U4 STAG2_HUMAN Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA. 1178 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 ATGATGTCCTCAGAAGGGAGG 0.373000 11 111 0 0 0.003610 0 0 CSF2RB 1439 broad.mit.edu 37 22 37333888 37333888 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:37333888G>A uc003aqa.4 + 13 2255 c.2038G>A c.(2038-2040)Ggg>Agg p.G680R CSF2RB_uc003aqc.4_Missense_Mutation_p.G686R NM_000395 NP_000386 P32927 IL3RB_HUMAN Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA. 680 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) TCCTGCTCTTGGGCCAAGGGT 0.657000 16 14 0 0 0.002450 0 0 C12orf76 400073 broad.mit.edu 37 12 110495058 110495058 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:110495058G>A uc001tqd.1 - 3 600 c.235C>T c.(235-237)Cct>Tct p.P79S C12orf76_uc001tqe.1_Non-coding_Transcript|C12orf76_uc010sxx.1_Non-coding_Transcript|C12orf76_uc001tqf.1_Intron NM_207435 NP_997318 Q8N812 CL076_HUMAN Homo sapiens chromosome 12 open reading frame 76 (C12orf76), mRNA. 79 endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 AGCTCTGCAGGGAGGATGTGC 0.502000 31 11 0 0 0.001368 0 0 ZNF434 54925 broad.mit.edu 37 16 3433091 3433091 + Missense_Mutation SNP G T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:3433091G>T uc002cux.4 - 6 2111 c.1852C>A c.(1852-1854)Cag>Aag p.Q618K ZNF434_uc010uwx.2_Missense_Mutation_p.Q330K|ZNF434_uc002cuy.4_Missense_Mutation_p.Q330K|ZNF434_uc002cuz.3_Missense_Mutation_p.Q407K NM_017810 NP_060280 Q9NX65 ZN434_HUMAN Homo sapiens zinc finger protein 434 (ZNF434), mRNA. 407 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q407E(1)|p.L61L(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 GCACTGAACTGGGAACTGTTG 0.527000 61 18 1.00905e-13 1.1003e-13 0.008871 1 0 OPN4 94233 broad.mit.edu 37 10 88414668 88414668 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:88414668C>T uc010qmk.1 + 0 355 c.128C>T c.(127-129)cCa>cTa p.P43L OPN4_uc001kdp.3_Missense_Mutation_p.P43L|OPN4_uc001kdq.3_Missense_Mutation_p.P43L NM_001030015 NP_001025186 Q9UHM6 OPN4_HUMAN Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA. 43 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3) 18 GGCCGGCTTCCATCCATCAGT 0.657000 22 21 0 0 0.012319 0 0 SYNPO 11346 broad.mit.edu 37 5 150028727 150028727 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:150028727G>A uc003lsn.3 + 2 1996 c.1622G>A c.(1621-1623)aGg>aAg p.R541K SYNPO_uc021yfu.1_Missense_Mutation_p.R541K|SYNPO_uc003lso.4_Missense_Mutation_p.R297K|SYNPO_uc003lsp.3_Missense_Mutation_p.R297K|SYNPO_uc021yfv.1_Missense_Mutation_p.R297K NM_001166208 NP_001159681 Q8N3V7 SYNPO_HUMAN Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA. 541 positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2) 18 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATGGTGGAAAGGAGGATGATG 0.642000 26 10 0 0 0.006214 0 0 TNK1 8711 broad.mit.edu 37 17 7290739 7290739 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:7290739G>A uc002ggi.4 + 9 1687 c.1455G>A c.(1453-1455)cgG>cgA p.R485R TNK1_uc002ggj.4_Silent_p.R480R|TNK1_uc010cmf.3_Non-coding_Transcript NM_001251902 NP_001238831 Q13470 TNK1_HUMAN Homo sapiens tyrosine kinase, non-receptor, 1 (TNK1), transcript variant 1, mRNA. 485 protein autophosphorylation membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1) 16 Prostate(122;0.157) CCCCAGCACGGGGCCAGAGGA 0.572000 8 8 0 0 0.008291 0 0 C1orf87 127795 broad.mit.edu 37 1 60491080 60491080 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:60491080C>T uc001czs.2 - 7 1228 c.1120G>A c.(1120-1122)Gaa>Aaa p.E374K NM_152377 NP_689590 Q8N0U7 CA087_HUMAN Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA. 374 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 TACTTTATTTCATTTTGGTAA 0.378000 50 20 0 0 0.008871 0 0 NDUFAF1 51103 broad.mit.edu 37 15 41680721 41680721 + Splice_Site SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:41680721C>T uc001znx.3 - 4 1158 c.760_splice c.e4-1 p.I254_splice NDUFAF1_uc010bcf.3_Splice_Site NM_016013 NP_057097 Q9Y375 CIA30_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1 (NDUFAF1), transcript variant 1, mRNA. 254 mitochondrial electron transport, NADH to ubiquinone|protein complex assembly mitochondrial respiratory chain complex I unfolded protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 12 all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114) AAAAAGGAATCTGAAAGAAGA 0.323000 35 12 0 0 0.001368 0 0 CILP 8483 broad.mit.edu 37 15 65490345 65490345 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:65490345C>T uc002aon.2 - 8 2460 c.2279G>A c.(2278-2280)cGg>cAg p.R760Q NM_003613 NP_003604 O75339 CILP1_HUMAN Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA. 760 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CCTCTCACTCCGGTAGGCCCT 0.547000 121 71 0 0 0.003610 0 0 MYBPC1 4604 broad.mit.edu 37 12 102023306 102023306 + Silent SNP A T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:102023306A>T uc001tii.3 + 3 338 c.198A>T c.(196-198)ggA>ggT p.G66G MYBPC1_uc001tif.2_Silent_p.G79G|MYBPC1_uc001tig.3_Silent_p.G91G|MYBPC1_uc010svr.2_Silent_p.G66G|MYBPC1_uc010svs.2_Silent_p.G66G|MYBPC1_uc001tij.3_Silent_p.G66G|MYBPC1_uc010svt.2_Silent_p.G54G|MYBPC1_uc010svu.2_Silent_p.G66G|MYBPC1_uc001tik.3_Silent_p.G40G|MYBPC1_uc001tih.3_Silent_p.G91G|MYBPC1_uc010svq.2_Silent_p.G53G NM_206820 NP_996556 Q00872 MYPC1_HUMAN Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA. 66 cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding p.T66A(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 AACCTCAAGGAGGAACAGTGA 0.488000 29 15 0 0 0.002450 0 0 EML2 24139 broad.mit.edu 37 19 46117952 46117952 + Missense_Mutation SNP G A A rs140164971 by1000genomes TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:46117952G>A uc010xxm.2 - 19 2280 c.2207C>T c.(2206-2208)cCg>cTg p.P736L EML2_uc002pcn.3_Missense_Mutation_p.P535L|EML2_uc002pcp.3_Missense_Mutation_p.P419L|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Missense_Mutation_p.P682L NM_001193268 NP_001180197 O95834 EMAL2_HUMAN Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA. 535 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) ACAGGTAGCCGGGTCCCCTGG 0.527000 69 36 0 0 0.004289 0 0 PLEC 5339 broad.mit.edu 37 8 145003928 145003928 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:145003928G>A uc003zaf.1 - 22 3390 c.3220C>T c.(3220-3222)Ctg>Ttg p.L1074L PLEC_uc003zab.1_Silent_p.L937L|PLEC_uc003zac.1_Silent_p.L941L|PLEC_uc003zad.2_Silent_p.L937L|PLEC_uc003zae.1_Silent_p.L905L|PLEC_uc003zag.1_Silent_p.L915L|PLEC_uc003zah.2_Silent_p.L923L|PLEC_uc003zaj.2_Silent_p.L964L NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 1074 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CTGTCCCGCAGGAAGGCCTGG 0.692000 6 12 0 0 0.001855 0 0 TNPO3 23534 broad.mit.edu 37 7 128645162 128645162 + Missense_Mutation SNP A T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:128645162A>T uc010lly.2 - 4 1007 c.604T>A c.(604-606)Ttt>Att p.F202I TNPO3_uc003vol.2_Missense_Mutation_p.F202I|TNPO3_uc010llz.2_Missense_Mutation_p.F202I|TNPO3_uc003vom.2_Missense_Mutation_p.F136I NM_012470 NP_036602 Q9Y5L0 TNPO3_HUMAN Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA. 202 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity p.V201G(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 AAACAGCGAAAAACCTTCATA 0.318000 62 48 0 0 0.003610 0 0 TPTE2P3 220115 broad.mit.edu 37 13 53096930 53096930 + Splice_Site SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr13:53096930G>A uc001vgw.3 + 11 c.1307_splice c.e11+1 Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 3 (TPTE2P3), non-coding RNA. TTTGTAGAAGGGTAAGTTTGA 0.353000 10 8 0 0 0.008291 0 0 ZAN 7455 broad.mit.edu 37 7 100348407 100348407 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:100348407G>A uc003uwj.3 + 11 1574 c.1409G>A c.(1408-1410)gGa>gAa p.G470E ZAN_uc003uwk.3_Missense_Mutation_p.G470E|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 470 MAM 3. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CTCCTCCTGGGAAGTCCTGCG 0.622000 13 21 0 0 0.010504 0 0 DLG5 9231 broad.mit.edu 37 10 79570962 79570962 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:79570962G>A uc001jzk.3 - 22 4423 c.4353C>T c.(4351-4353)tcC>tcT p.S1451S DLG5_uc001jzi.3_Silent_p.S206S|DLG5_uc001jzj.3_Silent_p.S866S|DLG5_uc009xru.1_Non-coding_Transcript NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA. 1451 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CCTGGAGAGTGGAGTGGGTAC 0.652000 54 19 0 0 0.010504 0 0 CCBE1 147372 broad.mit.edu 37 18 57136739 57136739 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr18:57136739C>T uc002lib.3 - 3 436 c.366G>A c.(364-366)gaG>gaA p.E122E NM_133459 NP_597716 Q6UXH8 CCBE1_HUMAN Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA. 122 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding p.R121L(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) TCCGGTGTCTCTCCCGGTCAT 0.527000 96 55 0 0 0.003610 0 0 C6 729 broad.mit.edu 37 5 41172438 41172438 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:41172438C>T uc003jmk.2 - 8 1390 c.1180G>A c.(1180-1182)Gaa>Aaa p.E394K C6_uc003jml.1_Missense_Mutation_p.E394K NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 394 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TTGGCTTCTTCCTCGGTTAAA 0.423000 27 15 0 0 0.004990 0 0 RPL8 6132 broad.mit.edu 37 8 146017431 146017431 + Silent SNP G C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:146017431G>C uc003zeb.3 - 1 195 c.84C>G c.(82-84)cgC>cgG p.R28R RPL8_uc003zec.3_Silent_p.R28R|RPL8_uc010mgc.3_Silent_p.R28R|RPL8_uc011lll.1_5'Flank NM_033301 NP_150644 P62917 RL8_HUMAN Homo sapiens ribosomal protein L8 (RPL8), transcript variant 2, mRNA. 28 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit rRNA binding|structural constituent of ribosome kidney(12)|lung(7)|prostate(1) 20 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.191) CGGCGCGCAGGCGCGCAGCGC 0.711000 9 21 0 0 0.010504 0 0 NCOR1 9611 broad.mit.edu 37 17 15973652 15973652 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:15973652C>T uc002gpo.3 - 30 4609 c.4340G>A c.(4339-4341)cGg>cAg p.R1447Q NCOR1_uc002gpn.3_Missense_Mutation_p.R1463Q|NCOR1_uc002gpp.1_Missense_Mutation_p.R1354Q|NCOR1_uc002gpm.3_5'Flank|NCOR1_uc010vwb.2_Missense_Mutation_p.R31Q|NCOR1_uc010coy.3_Missense_Mutation_p.R355Q|NCOR1_uc010vwc.2_Missense_Mutation_p.R258Q NM_006311 NP_006302 O75376 NCOR1_HUMAN Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA. 1447 Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TGACGTGTGCCGGGAACGCAC 0.532000 64 38 0 0 0.006999 0 0 TTC21B 79809 broad.mit.edu 37 2 166786257 166786258 + Splice_Site DNP CC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:166786257_166786258CC>TT uc002udk.3 - 10 1221 c.1088_splice c.e10-1 p.G363_splice TTC21B_uc002udl.3_Splice_Site_p.G363_splice NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA. 363 cilium axoneme|cytoplasm|cytoskeleton binding breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1) 58 TTGGATAAATCCTAAAATCAAA 0.386000 26 17 0 0 0.004672 0 0 IL27RA 9466 broad.mit.edu 37 19 14160061 14160061 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:14160061G>A uc002mxx.3 + 9 1760 c.1337G>A c.(1336-1338)cGa>cAa p.R446Q NM_004843 NP_004834 Q6UWB1 I27RA_HUMAN Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA. 446 Fibronectin type-III 3. cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 26 CACCAGCTTCGAGGCCACCTC 0.642000 OREG0025303 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 16 0 0 0.004990 0 0 X97876 0 broad.mit.edu 37 9 66500836 66500836 + RNA SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:66500836T>C uc004aed.1 + 2 c.929T>C Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA. TGAAACCACCTGGTGCCCAGG 0.637000 17 3 0 0 0.004672 0 0 CILP2 148113 broad.mit.edu 37 19 19653722 19653722 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:19653722C>T uc002nmw.4 + 5 1021 c.936C>T c.(934-936)ggC>ggT p.G312G CILP2_uc002nmv.4_Silent_p.G306G NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA. 306 Ig-like C2-type. proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 GAGAGGCTGGCCAGAATGTGA 0.597000 88 45 0 0 0.003610 0 0 TET1 80312 broad.mit.edu 37 10 70441225 70441225 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:70441225C>T uc001jok.4 + 8 5399 c.4894C>T c.(4894-4896)Cca>Tca p.P1632S NM_030625 NP_085128 Q8NFU7 TET1_HUMAN Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA. 1632 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 GCAGTATGCTCCAGTAGCTTA 0.358000 23 16 0 0 0.008871 0 0 ABCB9 23457 broad.mit.edu 37 12 123444367 123444367 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:123444367G>A uc001udm.4 - 1 726 c.416C>T c.(415-417)aCc>aTc p.T139I ABCB9_uc021rfo.1_Missense_Mutation_p.T139I|ABCB9_uc021rfp.1_Missense_Mutation_p.T139I|ABCB9_uc001udo.4_Missense_Mutation_p.T139I|ABCB9_uc010taj.2_Missense_Mutation_p.T139I|ABCB9_uc001udq.3_5'UTR|ABCB9_uc021rfq.1_Missense_Mutation_p.T139I|ABCB9_uc001udr.3_Missense_Mutation_p.T139I NM_019625 NP_062571 Q9NP78 ABCB9_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA. 139 positive regulation of T cell mediated cytotoxicity|protein transport TAP complex|lysosomal membrane|plasma membrane ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) TGGCCGCACGGTGGACAGCAG 0.716000 21 11 0 0 0.001368 0 0 DNAH2 146754 broad.mit.edu 37 17 7674702 7674702 + Missense_Mutation SNP T A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:7674702T>A uc002giu.1 + 26 4431 c.4417T>A c.(4417-4419)Ttt>Att p.F1473I NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 1473 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) ATCGACCTTATTTGACCAGGT 0.527000 61 32 0 0 0.012213 0 0 TSHB 7252 broad.mit.edu 37 1 115576077 115576077 + Missense_Mutation SNP G A A rs121918669 TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:115576077G>A uc001efs.1 + 1 162 c.94G>A c.(94-96)Gaa>Aaa p.E32K NM_000549 NP_000540 P01222 TSHB_HUMAN Homo sapiens thyroid stimulating hormone, beta (TSHB), mRNA. 32 G-protein coupled receptor protein signaling pathway|anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|hormone biosynthetic process|peptide hormone processing extracellular region hormone activity p.E32K(2) breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 Lung SC(450;0.211) all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) 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) AATGCACATCGAAAGGAGAGA 0.423000 51 42 0 0 0.010771 0 0 STAB2 55576 broad.mit.edu 37 12 104015856 104015856 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:104015856G>A uc001tjw.3 + 4 640 c.454G>A c.(454-456)Gac>Aac p.D152N NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 152 D -> A (in Ref. 5; BAD18723). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AACCTGTGCTGACGACAACTT 0.473000 37 17 0 0 0.008871 0 0 SLC17A3 10786 broad.mit.edu 37 6 25849654 25849654 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:25849654G>A uc003nfk.4 - 10 1420 c.1310C>T c.(1309-1311)tCg>tTg p.S437L SLC17A3_uc003nfi.4_Missense_Mutation_p.S359L NM_001098486 NP_001091956 O00476 NPT4_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA. 359 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1) 20 TGCTATGCTCGAAAATCCTCT 0.443000 12 9 0 0 0.006214 0 0 UROC1 131669 broad.mit.edu 37 3 126226912 126226912 + Silent SNP C T T rs139167502 byFrequency TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:126226912C>T uc010hsi.2 - 4 492 c.438G>A c.(436-438)tcG>tcA p.S146S UROC1_uc003eiz.2_Silent_p.S146S NM_001165974 NP_001159446 Q96N76 HUTU_HUMAN Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA. 146 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) CTGTCATCTTCGACAAGTAGA 0.587000 69 40 0 0 0.008740 0 0 ATG2A 23130 broad.mit.edu 37 11 64664943 64664943 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:64664943G>A uc001obx.3 - 36 5206 c.5091C>T c.(5089-5091)atC>atT p.I1697I ATG2A_uc001obw.3_Silent_p.I462I NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA. 1697 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GGGCCAGGCCGATGAGGAGGC 0.632000 4 9 0 0 0.006214 0 0 CCT6A 908 broad.mit.edu 37 7 56122096 56122097 + Missense_Mutation DNP AG TA TA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:56122096_56122097AG>TA uc003trl.1 + 2 400_401 c.236_237AG>TA c.(235-237)aag>aTA p.K79I PSPH_uc003trh.3_5'Flank|PSPH_uc003tri.3_5'Flank|PSPH_uc003trj.3_Intron|PSPH_uc003trk.1_5'Flank|CCT6A_uc003trm.1_Intron|CCT6A_uc011kcu.1_Missense_Mutation_p.K48I|SNORA22_uc022adt.1_5'Flank NM_001762 NP_001753 P40227 TCPZ_HUMAN Homo sapiens chaperonin containing TCP1, subunit 6A (zeta 1) (CCT6A), transcript variant 1, mRNA. 79 'de novo' posttranslational protein folding cytosol ATP binding|unfolded protein binding breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 15 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TTAATAGCAAAGGTAGCAACAG 0.386000 150 77 0 0 0.004672 0 0 NDST4 64579 broad.mit.edu 37 4 115767138 115767138 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:115767138G>A uc003ibu.3 - 9 2635 c.1956C>T c.(1954-1956)ttC>ttT p.F652F NDST4_uc010imw.3_Non-coding_Transcript NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 652 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) ATGGTGTAGGGAAAAAGTCCA 0.358000 27 12 0 0 0.001855 0 0 ARHGAP6 395 broad.mit.edu 37 X 11160413 11160413 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:11160413C>T uc004cup.1 - 11 3070 c.2197G>A c.(2197-2199)Gat>Aat p.D733N ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cum.1_Missense_Mutation_p.D530N|ARHGAP6_uc004cun.1_Missense_Mutation_p.D553N NM_013427 NP_038286 O43182 RHG06_HUMAN Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA. 733 Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly actin filament|cytosol Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CCCCAGATATCGAAAGGCTCC 0.313000 14 59 0 0 0.003610 0 0 SNRPN 6638 broad.mit.edu 37 15 25223433 25223433 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:25223433C>T uc021sgb.1 + 6 1704 c.662C>T c.(661-663)cCg>cTg p.P221L SNRPN_uc001ywp.1_Missense_Mutation_p.P218L|SNRPN_uc001ywq.1_Missense_Mutation_p.P218L|SNRPN_uc001ywr.1_Missense_Mutation_p.P218L|SNRPN_uc001yws.1_Missense_Mutation_p.P218L|SNRPN_uc001ywt.1_Missense_Mutation_p.P218L|SNRPN_uc001ywy.1_Missense_Mutation_p.P218L|SNRPN_uc001ywz.1_Non-coding_Transcript|SNRPN_uc001yxa.1_Intron|SNRPN_uc021sga.1_Missense_Mutation_p.P218L NM_022808 NP_073719 P63162 RSMN_HUMAN Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 5, mRNA. 218 Repeat-rich region. RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex RNA binding|identical protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2) 24 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) ATGCCGCCTCCGGGAATGAGA 0.567000 Prader-Willi syndrome 105 59 0 0 0.003610 0 0 SLC26A1 10861 broad.mit.edu 37 4 973225 973225 + Missense_Mutation SNP T A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:973225T>A uc003gbx.3 - 2 807 c.644A>T c.(643-645)gAa>gTa p.E215V NM_134425 NP_602297 Q9H2B4 S26A1_HUMAN Homo sapiens solute carrier family 26 (sulfate transporter), member 1 (SLC26A1), transcript variant 2, mRNA. 0 integral to membrane|plasma membrane secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.0158) ttccagaagttcctgcgagtc 0.537000 14 10 0 0 0.008291 0 0 SCN5A 6331 broad.mit.edu 37 3 38622599 38622599 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:38622599C>T uc021wvo.1 - 15 3103 c.3051G>A c.(3049-3051)gaG>gaA p.E1017E SCN5A_uc021wvk.1_Silent_p.E1017E|SCN5A_uc021wvl.1_Silent_p.E1017E|SCN5A_uc021wvm.1_Silent_p.E1017E|SCN5A_uc021wvn.1_Silent_p.E1017E|SCN5A_uc021wvp.1_Silent_p.E1017E|SCN5A_uc021wvq.1_Silent_p.E1017E|SCN5A_uc021wvr.1_Silent_p.E1017E|SCN5A_uc021wvs.1_Silent_p.E1017E|SCN5A_uc021wvt.1_Silent_p.E1017E|SCN5A_uc021wvu.1_Silent_p.E1017E|SCN5A_uc021wvv.1_Silent_p.E1017E|SCN5A_uc021wvj.1_Silent_p.E883E|SCN5A_uc021wvi.1_Silent_p.E883E|SCN5A_uc021wvw.1_Silent_p.E628E NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1017 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) GAGGCACCTTCTCCGTCTCTG 0.697000 12 8 0 0 0.006214 0 0 TRIM58 25893 broad.mit.edu 37 1 248031359 248031359 + Missense_Mutation SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:248031359T>C uc001ido.3 + 4 913 c.865T>C c.(865-867)Ttc>Ctc p.F289L OR2W3_uc001idp.1_5'UTR NM_015431 NP_056246 Q8NG06 TRI58_HUMAN Homo sapiens tripartite motif containing 58 (TRIM58), mRNA. 289 B30.2/SPRY. 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) CTTAAGGAAGTTCCAAGGTAG 0.512000 17 10 0 0 0.008291 0 0 TULP3 7289 broad.mit.edu 37 12 3018744 3018744 + Nonsense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:3018744C>T uc001qlj.2 + 1 172 c.91C>T c.(91-93)Cag>Tag p.Q31* TULP3_uc010sef.1_Non-coding_Transcript|TULP3_uc009zec.1_5'UTR|TULP3_uc010seh.1_Nonsense_Mutation_p.Q31*|TULP3_uc010sei.1_5'UTR NM_001160408 NP_001153880 O75386 TULP3_HUMAN Homo sapiens tubby like protein 3 (TULP3), transcript variant 2, mRNA. 31 G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GCTGGATTATCAGGTGAGCAG 0.403000 81 37 0 0 0.006230 0 0 DUSP22 56940 broad.mit.edu 37 6 311939 311939 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:311939G>A uc003msx.3 + 2 554 c.115G>A c.(115-117)Gat>Aat p.D39N DUSP22_uc011dhn.1_Missense_Mutation_p.D39N|DUSP22_uc003msy.1_5'UTR NM_020185 NP_064570 Q9NRW4 DUS22_HUMAN Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA. 39 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) GTCTGTCCACGATAGTGCCAG 0.493000 64 8 0 0 0.003080 0 0 GYS1 2997 broad.mit.edu 37 19 49474231 49474231 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:49474231G>A uc002plp.3 - 12 1840 c.1599C>T c.(1597-1599)ggC>ggT p.G533G GYS1_uc010emm.3_Silent_p.G469G|GYS1_uc010xzz.2_Silent_p.G453G NM_002103 NP_002094 P13807 GYS1_HUMAN Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA. 533 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) AGCAGCCGAAGCCGGAGAGAT 0.592000 OREG0025611 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 28 0 0 0.003271 0 0 TTN 7273 broad.mit.edu 37 2 179455117 179455117 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:179455117G>A uc021vsy.1 - 252 53856 c.53631C>T c.(53629-53631)ttC>ttT p.F17877F MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.F11572F|TTN_uc021vta.1_Silent_p.F11505F|TTN_uc021vtb.1_Silent_p.F11380F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 18804 Fibronectin type-III 29. 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) CCTTTATACGGAATCTGTACT 0.413000 55 27 0 0 0.008361 0 0 CRP 1401 broad.mit.edu 37 1 159683565 159683565 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:159683565C>T uc001ftw.3 - 1 529 c.425G>A c.(424-426)gGa>gAa p.G142E CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript NM_000567 NP_000558 P02741 CRP_HUMAN Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA. 142 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) CACAGTGTATCCCTTCTTCAG 0.552000 461 103 0 0 0.003610 0 0 LRFN1 57622 broad.mit.edu 37 19 39804764 39804764 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:39804764C>T uc002okw.2 - 0 1213 c.1213G>A c.(1213-1215)Gag>Aag p.E405K NM_020862 NP_065913 Q9P244 LRFN1_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA. 405 cell junction|integral to membrane|postsynaptic density|postsynaptic membrane p.R404H(1) central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GAGCCGGGCTCGGTGAGAGGC 0.706000 11 8 0 0 0.003080 0 0 ADAMTS19 171019 broad.mit.edu 37 5 129030529 129030529 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:129030529G>A uc003kvb.1 + 18 2917 c.2917G>A c.(2917-2919)Gag>Aag p.E973K ADAMTS19_uc010jdh.1_Non-coding_Transcript NM_133638 NP_598377 Q8TE59 ATS19_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA. 973 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) AAAGTGCAATGAGCAACCATG 0.383000 37 31 0 0 0.004289 0 0 UPB1 51733 broad.mit.edu 37 22 24919669 24919670 + Missense_Mutation DNP CC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:24919669_24919670CC>TT uc003aaf.3 + 8 2294_2295 c.999_1000CC>TT c.(997-1002)agccgg>agTTgg p.R334W UPB1_uc003aae.3_Missense_Mutation_p.R266W|UPB1_uc021wnh.1_Non-coding_Transcript NM_016327 NP_057411 Q9UBR1 BUP1_HUMAN Homo sapiens ureidopropionase, beta (UPB1), mRNA. 334 CN hydrolase. pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) TGTCCCGTAGCCGGGATGGACT 0.545000 58 50 0 0 0.004672 0 0 PION 54103 broad.mit.edu 37 7 76942807 76942807 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr7:76942807G>A uc003ugf.3 - 27 2348 c.2269C>T c.(2269-2271)Ccg>Tcg p.P757S PION_uc011kgo.2_Missense_Mutation_p.P78S|PION_uc003ugd.3_Missense_Mutation_p.P151S NM_017439 NP_059135 A4D1B5 GSAP_HUMAN Homo sapiens pigeon homolog (Drosophila) (PION), mRNA. 757 beta-amyloid formation|regulation of proteolysis trans-Golgi network beta-amyloid binding p.P757P(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AGTATTACCGGAGGAAGCCGC 0.348000 12 9 0 0 0.004482 0 0 RXFP3 51289 broad.mit.edu 37 5 33937921 33937921 + Missense_Mutation SNP T A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:33937921T>A uc003jic.2 + 0 1431 c.1076T>A c.(1075-1077)tTc>tAc p.F359Y NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 3 (RXFP3), mRNA. 359 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 GCGGTGCCCTTCAGCCAGGAG 0.577000 54 35 0 0 0.002836 0 0 GORAB 92344 broad.mit.edu 37 1 170521292 170521292 + Silent SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:170521292T>C uc001gha.2 + 4 901 c.874T>C c.(874-876)Ttg>Ctg p.L292L GORAB_uc009wvx.2_Silent_p.L112L|GORAB_uc001ghb.2_Silent_p.L112L|GORAB_uc001ghc.2_Silent_p.L112L|GORAB_uc001ghd.2_Silent_p.L85L NM_152281 NP_689494 Q5T7V8 GORAB_HUMAN Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA. 292 Necessary for interaction with RCHY1. Golgi apparatus|nucleus endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 17 GGCCAAGAAGTTGGAGGAGTT 0.443000 40 62 0 0 0.003610 0 0 PDXDC1 23042 broad.mit.edu 37 16 15092243 15092243 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:15092243C>T uc002dda.4 + 2 366 c.142C>T c.(142-144)Cca>Tca p.P48S PDXDC1_uc010uzl.2_Missense_Mutation_p.P33S|PDXDC1_uc010uzm.2_Missense_Mutation_p.P33S|PDXDC1_uc010bvc.1_5'UTR|PDXDC1_uc002dcz.3_Missense_Mutation_p.P48S|PDXDC1_uc002ddb.4_Missense_Mutation_p.P48S|PDXDC1_uc010uzn.2_Missense_Mutation_p.P47S|PDXDC1_uc002ddc.3_Missense_Mutation_p.P48S NM_015027 NP_055842 Q6P996 PDXD1_HUMAN Homo sapiens pyridoxal-dependent decarboxylase domain containing 1 (PDXDC1), mRNA. 48 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) CGGAGATATTCCAGGCCCACT 0.398000 89 13 0 0 0.004990 0 0 PTH1R 5745 broad.mit.edu 37 3 46939393 46939393 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:46939393G>A uc003cqm.3 + 5 565 c.362G>A c.(361-363)gGg>gAg p.G121E PTH1R_uc021wxg.1_Missense_Mutation_p.G121E NM_000316 NP_001171673 Q03431 PTH1R_HUMAN Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA. 121 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 TGGCCGCTGGGGGCACCAGGT 0.607000 14 13 0 0 0.001368 0 0 RASA2 5922 broad.mit.edu 37 3 141291471 141291471 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:141291471G>A uc010huq.1 + 11 1190 c.1190G>A c.(1189-1191)aGa>aAa p.R397K RASA2_uc003etz.1_Missense_Mutation_p.R397K|RASA2_uc003eua.1_Missense_Mutation_p.R397K|RASA2_uc011bnc.1_5'UTR NM_006506 NP_006497 Q15283 RASA2_HUMAN Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA. 397 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm Ras GTPase activator activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 ACAATTTTTAGAGGAAATTCC 0.348000 29 15 0 0 0.004990 0 0 XDH 7498 broad.mit.edu 37 2 31591431 31591431 + Silent SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:31591431T>C uc002rnv.1 - 18 2155 c.2076A>G c.(2074-2076)gaA>gaG p.E692E NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 692 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TGGCTGGTAGTTCTTCATAGG 0.507000 36 17 0 0 0.007413 0 0 WDR49 151790 broad.mit.edu 37 3 167246950 167246950 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:167246950C>T uc003fev.1 - 9 1544 c.1240G>A c.(1240-1242)Gaa>Aaa p.E414K WDR49_uc003feu.1_Missense_Mutation_p.E239K|WDR49_uc011bpd.1_Missense_Mutation_p.E478K|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN Homo sapiens WD repeat domain 49 (WDR49), mRNA. 414 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 GCCAAAAATTCAGCCAGAAGT 0.383000 28 16 0 0 0.004007 0 0 GPD1L 23171 broad.mit.edu 37 3 32200531 32200531 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:32200531C>T uc003cew.3 + 5 983 c.782C>T c.(781-783)gCc>gTc p.A261V NM_015141 NP_055956 Q8N335 GPD1L_HUMAN Homo sapiens glycerol-3-phosphate dehydrogenase 1-like (GPD1L), mRNA. 261 glycerol-3-phosphate catabolic process glycerol-3-phosphate dehydrogenase complex NAD binding|glycerol-3-phosphate dehydrogenase|protein homodimerization activity large_intestine(4)|lung(7)|ovary(1) 12 TGCGGGGTGGCCGACCTGATC 0.622000 40 23 0 0 0.007291 0 0 CCNT2 905 broad.mit.edu 37 2 135711938 135711938 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:135711938C>T uc002tuc.2 + 8 1946 c.1913C>T c.(1912-1914)tCc>tTc p.S638F CCNT2_uc010zbf.2_Missense_Mutation_p.S463F|CCNT2_uc002tub.2_Missense_Mutation_p.S638F|CCNT2_uc002tud.2_Missense_Mutation_p.S301F NM_058241 NP_490595 O60583 CCNT2_HUMAN Homo sapiens cyclin T2 (CCNT2), transcript variant b, mRNA. 638 Poly-Ser. cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein kinase binding endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.107) AGCAAAAGTTCCAAAAGTTCA 0.458000 66 36 0 0 0.006230 0 0 CTNND2 1501 broad.mit.edu 37 5 11199584 11199584 + Missense_Mutation SNP G T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:11199584G>T uc003jfa.1 - 10 2096 c.1951C>A c.(1951-1953)Ctg>Atg p.L651M CTNND2_uc010itt.2_Missense_Mutation_p.L560M|CTNND2_uc011cmy.1_Missense_Mutation_p.L314M|CTNND2_uc011cmz.1_Missense_Mutation_p.L218M|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.L218M NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 651 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding p.D650N(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CGGATCTCCAGGTCAGTCGTC 0.423000 87 43 2.0833e-19 2.28193e-19 0.003610 1 0 ABCA11P 79963 broad.mit.edu 37 4 436628 436628 + Missense_Mutation SNP A T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:436628A>T uc003gaf.4 - 2 1950 c.1724T>A c.(1723-1725)aTc>aAc p.I575N ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.I543N|ABCA11P_uc010ibe.3_Missense_Mutation_p.I531N NM_133474 NP_597731 Homo sapiens zinc finger protein 721 (ZNF721), mRNA. TACATAAAGGATTGCGGACTG 0.403000 117 4 0 0 0.009096 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117481 117481 + RNA SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrGL000205.1:117481G>A uc002kgk.4 + 0 c.859G>A Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. GAGAGTGATCGTGCAGGTGGG 0.572000 44 9 0 0 0.004482 0 0 OTUD7A 161725 broad.mit.edu 37 15 31776364 31776365 + Missense_Mutation DNP GG AA AA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:31776364_31776365GG>AA uc001zfq.3 - 10 2006_2007 c.1913_1914CC>TT c.(1912-1914)gcc>gTT p.A638V OTUD7A_uc001zfr.3_Missense_Mutation_p.A645V NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN Homo sapiens OTU domain containing 7A (OTUD7A), mRNA. 638 cytoplasm|nucleus DNA binding|cysteine-type peptidase activity|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) GCAGCAGGCCGGCGAAGATGAA 0.668000 20 4 0 0 0.004672 0 0 C8A 731 broad.mit.edu 37 1 57378088 57378088 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:57378088C>T uc001cyo.2 + 9 1525 c.1393C>T c.(1393-1395)Cac>Tac p.H465Y NM_000562 NP_000553 P07357 CO8A_HUMAN Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA. 465 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 GCAGCCTATCCACGAGGTGCT 0.617000 40 21 0 0 0.002299 0 0 PLEKHO1 51177 broad.mit.edu 37 1 150129668 150129669 + Silent DNP CC TT TT TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:150129668_150129669CC>TT uc001ett.3 + 4 791_792 c.513_514CC>TT c.(511-516)caccta>caTTta p.171_172HL>HL PLEKHO1_uc001ets.3_Intron|PLEKHO1_uc001etu.3_5'UTR|PLEKHO1_uc021oyc.1_5'Flank NM_016274 NP_057358 Q53GL0 PKHO1_HUMAN Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA. 171 Interaction with ATM, CKIP, IFP35 and NMI.|Interaction with capping proteins (CPs). cytoplasm|nucleus|plasma membrane breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 22 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CAAGGGGACACCTAATGGCTGT 0.525000 36 66 0 0 0.004672 0 0 VPS28 51160 broad.mit.edu 37 8 145649393 145649393 + Silent SNP G A A rs149066828 byFrequency TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:145649393G>A uc003zct.1 - 8 669 c.579C>T c.(577-579)ccC>ccT p.P193P VPS28_uc003zcs.1_Intron NM_183057 NP_898880 Q9UK41 VPS28_HUMAN Homo sapiens vacuolar protein sorting 28 homolog (S. cerevisiae) (VPS28), transcript variant 2, mRNA. 0 VPS28 C-terminal. cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport cytosol|late endosome membrane|plasma membrane protein binding kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CGGGCACTGCGGGGCTCTGCC 0.701000 18 63 0 0 0.003610 0 0 TRHDE 29953 broad.mit.edu 37 12 73046126 73046126 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:73046126C>T uc001sxa.3 + 15 2595 c.2565C>T c.(2563-2565)atC>atT p.I855I NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA. 855 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding p.D854G(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TTAGAGACATCGTATACTGTA 0.353000 40 20 0 0 0.008871 0 0 PARP9 83666 broad.mit.edu 37 3 122274910 122274910 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:122274910G>A uc010hri.3 - 3 358 c.213C>T c.(211-213)ttC>ttT p.F71F PARP9_uc003eff.4_Silent_p.F36F|PARP9_uc011bjs.2_Silent_p.F36F|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Silent_p.F36F|PARP9_uc003efh.3_Silent_p.F71F|PARP9_uc003efj.2_Silent_p.F36F NM_001146102 NP_113646 Q8IXQ6 PARP9_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA. 71 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) TTAAAATTTTGAAGTCATTGT 0.363000 24 10 0 0 0.002450 0 0 WDR11 55717 broad.mit.edu 37 10 122665387 122665388 + Splice_Site DNP GG AA AA TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:122665387_122665388GG>AA uc021pzt.1 + 27 3538 c.3292_splice c.e27-1 p.V1098_splice WDR11_uc010qte.2_Splice_Site_p.V700_splice|WDR11_uc001lfd.1_Splice_Site_p.V616_splice|AX747838_uc001lfe.1_5'Flank|WDR11_uc021pzu.1_5'Flank NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN Homo sapiens WD repeat domain 11 (WDR11), mRNA. 1098 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 GTCTTTCTCAGGTCCGTTTGAA 0.406000 53 25 0 0 0.004672 0 0 FCN1 2219 broad.mit.edu 37 9 137801781 137801781 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:137801781C>T uc004cfi.3 - 8 933 c.844G>A c.(844-846)Gac>Aac p.D282N NM_002003 NP_001994 O00602 FCN1_HUMAN Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA. 282 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding p.A281T(1) endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) GCATGACAGTCGGCGTACCAC 0.493000 32 55 0 0 0.003610 0 0 MAGIX 79917 broad.mit.edu 37 X 49021314 49021314 + Silent SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:49021314T>C uc010nin.1 + 3 440 c.393T>C c.(391-393)ggT>ggC p.G131G MAGIX_uc004dmt.2_Intron|MAGIX_uc010nio.1_Intron|MAGIX_uc004dmu.2_Silent_p.G72G|MAGIX_uc004dmw.2_Silent_p.G64G NM_024859 NP_079135 Q9H6Y5 MAGIX_HUMAN Homo sapiens MAGI family member, X-linked (MAGIX), transcript variant 1, mRNA. 131 PDZ. TGGTTCGCGGTTACGCAGGCT 0.617000 12 100 0 0 0.003610 0 0 ASTL 431705 broad.mit.edu 37 2 96789943 96789943 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:96789943C>T uc010yui.2 - 8 942 c.942G>A c.(940-942)gaG>gaA p.E314E NM_001002036 NP_001002036 Q6HA08 ASTL_HUMAN Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA. 314 proteolysis metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 CCGACAGTGCCTCCAAAAGCC 0.657000 20 12 0 0 0.001368 0 0 SORCS1 114815 broad.mit.edu 37 10 108434807 108434807 + Splice_Site SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:108434807G>A uc001kyl.3 - 14 2122 c.1940_splice c.e14+1 p.T647_splice SORCS1_uc021pxw.1_Splice_Site_p.T647_splice|SORCS1_uc009xxs.3_Splice_Site_p.T647_splice|SORCS1_uc001kym.3_Splice_Site_p.T647_splice|SORCS1_uc001kyn.2_Splice_Site_p.T647_splice|SORCS1_uc001kyo.3_Splice_Site_p.T647_splice NM_001013031 NP_001013049 Q8WY21 SORC1_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA. 647 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TTCAACTTACGTCATGATGAG 0.403000 59 27 0 0 0.008361 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725596 32725596 + Silent SNP C G G rs115565146 by1000genomes TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:32725596C>G uc003obz.2 - 3 794 c.711G>C c.(709-711)ctG>ctC p.L237L HLA-DQB2_uc003oby.4_Intron NM_001198858 NP_001185787 Q5SR06 Q5SR06_HUMAN Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA. 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response MHC class II protein complex|integral to membrane endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CGAGGAAGATCAGCCCCAGCA 0.562000 19 3 0 0 0.001168 0 0 CRIM1 51232 broad.mit.edu 37 2 36668611 36668611 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:36668611G>A uc002rpd.3 + 2 782 c.716G>A c.(715-717)gGa>gAa p.G239E NM_016441 NP_057525 Q9NZV1 CRIM1_HUMAN Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA. 239 nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) GGGAAGCCGGGAGAGTGCTGT 0.572000 59 33 0 0 0.006230 0 0 NBAS 51594 broad.mit.edu 37 2 15614372 15614372 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:15614372G>A uc002rcc.1 - 14 1444 c.1418C>T c.(1417-1419)tCt>tTt p.S473F NBAS_uc002rcd.1_Non-coding_Transcript NM_015909 NP_056993 A2RRP1 NBAS_HUMAN Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA. 473 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 ATCAGAATCAGAATCCTCTTC 0.418000 29 17 0 0 0.004007 0 0 FAT3 120114 broad.mit.edu 37 11 92086872 92086872 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:92086872G>A uc001pdj.4 + 0 1611 c.1594G>A c.(1594-1596)Gaa>Aaa p.E532K NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 532 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) TAGCACAACTGAAGAACTGGA 0.398000 TCGA Ovarian(4;0.039) 144 369 0 0 0.003610 0 0 OR4K2 390431 broad.mit.edu 37 14 20344738 20344738 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:20344738C>T uc001vwh.1 + 0 312 c.312C>T c.(310-312)ctC>ctT p.L104L NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA. 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TATTCTTTCTCCACCTTTTCA 0.428000 49 26 0 0 0.007291 0 0 OR4F15 390649 broad.mit.edu 37 15 102359075 102359075 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:102359075C>T uc010uts.2 + 0 686 c.686C>T c.(685-687)tCt>tTt p.S229F NM_001001674 NP_001001674 Q8NGB8 O4F15_HUMAN Homo sapiens olfactory receptor, family 4, subfamily F, member 15 (OR4F15), mRNA. 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) TGGAAACATTCTTCTGGTGGT 0.458000 72 48 0 0 0.003610 0 0 ROS1 6098 broad.mit.edu 37 6 117709094 117709094 + Silent SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:117709094T>C uc003pxp.1 - 12 2062 c.1863A>G c.(1861-1863)gaA>gaG p.E621E ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 621 Fibronectin type-III 3. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TATGAGTGACTTCAGGAGGGT 0.433000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 17 44 0 0 0.003610 0 0 DAPP1 27071 broad.mit.edu 37 4 100756871 100756871 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:100756871G>A uc003hvf.4 + 1 283 c.193G>A c.(193-195)Gag>Aag p.E65K DAPP1_uc011cek.2_Missense_Mutation_p.E65K|DAPP1_uc010ilh.3_Missense_Mutation_p.E65K NM_014395 NP_055210 Q9UN19 DAPP1_HUMAN Homo sapiens dual adaptor of phosphotyrosine and 3-phosphoinositides (DAPP1), mRNA. 65 SH2. signal transduction cytoplasm|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity endometrium(1)|kidney(1)|lung(4) 6 OV - Ovarian serous cystadenocarcinoma(123;7.04e-09) GGACAGCAATGAGACCACCGG 0.527000 37 31 0 0 0.008361 0 0 SPTA1 6708 broad.mit.edu 37 1 158639531 158639531 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:158639531C>T uc001fst.1 - 12 1844 c.1645G>A c.(1645-1647)Gat>Aat p.D549N NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 549 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) TTCTCTGAATCATAATGGTCA 0.413000 132 225 0 0 0.003610 0 0 CYP2A13 1553 broad.mit.edu 37 19 41594957 41594957 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:41594957G>A uc002opt.3 + 1 313 c.304G>A c.(304-306)Ggc>Agc p.G102S NM_000766 NP_000757 Q16696 CP2AD_HUMAN Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA. 102 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) CAGCGGGCGAGGCGAGCAGGC 0.642000 25 12 0 0 0.004007 0 0 CABIN1 23523 broad.mit.edu 37 22 24456409 24456409 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:24456409C>T uc002zzi.1 + 11 1549 c.1422C>T c.(1420-1422)ttC>ttT p.F474F CABIN1_uc021wnc.1_Silent_p.F424F|CABIN1_uc002zzj.1_Silent_p.F424F|CABIN1_uc002zzl.2_Silent_p.F474F NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA. 474 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity p.F474L(1) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 TGCATGAGTTCCTGCTGGAGA 0.537000 37 16 0 0 0.007413 0 0 APOBEC3B 9582 broad.mit.edu 37 22 39357541 39357541 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:39357541G>A uc003awn.2 + 2 494 c.324G>A c.(322-324)ggG>ggA p.G108G APOBEC3B_uc011aob.1_Silent_p.G90G|APOBEC3B_uc011aoc.1_Silent_p.G108G NM_145699 NP_663745 Q9UH17 ABC3B_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A (APOBEC3A), transcript variant 1, mRNA. 291 negative regulation of transposition RNA binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 13 Melanoma(58;0.04) GCTGTGCCGGGGAAGTGCGTG 0.562000 45 49 0 0 0.003610 0 0 MYO3A 53904 broad.mit.edu 37 10 26432494 26432494 + Missense_Mutation SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:26432494A>G uc001isn.2 + 20 2740 c.2380A>G c.(2380-2382)Agt>Ggt p.S794G MYO3A_uc009xko.1_Missense_Mutation_p.S794G|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN Homo sapiens myosin IIIA (MYO3A), mRNA. 794 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TGATGAAGAAAGTAGATTTCC 0.403000 27 22 0 0 0.002780 0 0 DLG5 9231 broad.mit.edu 37 10 79590511 79590511 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:79590511G>A uc001jzk.3 - 9 1939 c.1869C>T c.(1867-1869)ttC>ttT p.F623F DLG5_uc001jzj.3_Silent_p.F378F|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Silent_p.F227F NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA. 623 PDZ 1. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity p.F623F(2) breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) TCTCCCTCTCGAACTCTACAA 0.557000 29 17 0 0 0.006122 0 0 HTR4 3360 broad.mit.edu 37 5 147889434 147889434 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:147889434C>T uc021yfj.1 - 4 708 c.661G>A c.(661-663)Gag>Aag p.E221K HTR4_uc021yfg.1_Missense_Mutation_p.E221K|HTR4_uc021yfh.1_Missense_Mutation_p.E221K|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Missense_Mutation_p.E221K|HTR4_uc011dby.1_Missense_Mutation_p.E221K|HTR4_uc003lpn.3_Missense_Mutation_p.E221K|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Missense_Mutation_p.E221K NM_001040173 NP_001035263 Q13639 5HT4R_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA. 221 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) TGGGCATGCTCCTTAGCTGTG 0.557000 28 12 0 0 0.001855 0 0 SALL3 27164 broad.mit.edu 37 18 76754424 76754424 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr18:76754424G>A uc002lmt.3 + 1 2433 c.2433G>A c.(2431-2433)ctG>ctA p.L811L SALL3_uc010dra.3_Silent_p.L418L NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA. 811 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) ACGCTGAGCTGAAGGACGCGG 0.662000 13 7 0 0 0.004482 0 0 NDUFS4 4724 broad.mit.edu 37 5 52978999 52978999 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:52978999C>T uc003jpe.2 + 4 504 c.476C>T c.(475-477)tCt>tTt p.S159F NM_002495 NP_002486 O43181 NDUS4_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) (NDUFS4), nuclear gene encoding mitochondrial protein, mRNA. 159 brain development|cAMP-mediated signaling|mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|positive regulation of fibroblast proliferation|reactive oxygen species metabolic process|regulation of protein phosphorylation|response to cAMP|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(3) 10 Lung NSC(810;8.27e-05)|Breast(144;0.0848) NADH(DB00157) AAGTCCAAGTCTTATGGTGCA 0.393000 82 47 0 0 0.003610 0 0 SALL1 6299 broad.mit.edu 37 16 51174325 51174325 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr16:51174325C>T uc021tif.1 - 1 1839 c.1517G>A c.(1516-1518)aGa>aAa p.R506K SALL1_uc021tid.1_Missense_Mutation_p.R506K|SALL1_uc021tie.1_Missense_Mutation_p.R603K|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 603 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ACCTAGGTTTCTTGTGGCTGA 0.612000 24 18 0 0 0.008871 0 0 CLIC1 1192 broad.mit.edu 37 6 31700000 31700000 + Silent SNP T A A rs141018232 TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr6:31700000T>A uc003nwr.3 - 4 822 c.558A>T c.(556-558)atA>atT p.I186I DDAH2_uc003nwp.3_5'Flank|DDAH2_uc003nwq.3_5'Flank NM_001288 NP_001279 O00299 CLIC1_HUMAN Homo sapiens chloride intracellular channel 1 (CLIC1), mRNA. 186 GST C-terminal. signal transduction brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction protein binding|voltage-gated chloride channel activity central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1) 7 ACACCTGTACTATGTGTAACT 0.512000 199 265 0 0 0.003610 0 0 TPPP2 122664 broad.mit.edu 37 14 21499185 21499185 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:21499185G>A uc001vzh.3 + 2 376 c.188G>A c.(187-189)cGa>cAa p.R63Q NDRG2_uc010tll.2_Intron NM_173846 NP_776245 P59282 TPPP2_HUMAN Homo sapiens tubulin polymerization-promoting protein family member 2 (TPPP2), mRNA. 63 cytoplasm endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) AAGAACGCCCGAACCATCACG 0.483000 37 21 0 0 0.003954 0 0 EPHA10 284656 broad.mit.edu 37 1 38184483 38184483 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:38184483G>A uc009vvi.3 - 15 2848 c.2762C>T c.(2761-2763)cCc>cTc p.P921L EPHA10_uc001cbt.3_Non-coding_Transcript|EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA. 921 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TAGTGGGGTGGGAGGCCTGCG 0.667000 15 6 0 0 0.003080 0 0 AKT1 207 broad.mit.edu 37 14 105241449 105241449 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:105241449G>A uc001ypk.3 - 5 1085 c.531C>T c.(529-531)gcC>gcT p.A177A AKT1_uc001ypl.3_Silent_p.A177A|AKT1_uc010axa.3_Silent_p.A177A|AKT1_uc001ypm.3_Silent_p.A177A|AKT1_uc001ypn.3_Silent_p.A177A|AKT1_uc010tyk.2_Silent_p.A115A NM_005163 NP_005154 P31749 AKT1_HUMAN Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA. 177 Protein kinase. G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) GGATCTTCATGGCGTAGTAGC 0.612000 1 Mis """breast, colorectal, ovarian, NSCLC""" 66 25 0 0 0.003954 0 0 DUSP27 92235 broad.mit.edu 37 1 167064135 167064135 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:167064135G>A uc001geb.1 + 0 65 c.49G>A c.(49-51)Gag>Aag p.E17K NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA. 17 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CCCAAGCGAGGAGGACGAAGC 0.572000 30 11 0 0 0.001368 0 0 GLB1L 79411 broad.mit.edu 37 2 220103065 220103065 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:220103065G>A uc002vkm.3 - 13 1487 c.1248C>T c.(1246-1248)taC>taT p.Y416Y GLB1L_uc002vkk.3_Silent_p.Y173Y|GLB1L_uc010zkx.2_Silent_p.Y326Y|GLB1L_uc002vkn.3_Silent_p.Y416Y NM_024506 NP_078782 Q6UWU2 GLB1L_HUMAN Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA. 416 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TATAGGTTCGGTACAACATGA 0.448000 76 34 0 0 0.003271 0 0 ACAN 176 broad.mit.edu 37 15 89414652 89414652 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr15:89414652G>A uc010upo.1 + 13 7360 c.6986G>A c.(6985-6987)gGc>gAc p.G2329D ACAN_uc010upp.1_Missense_Mutation_p.G2291D|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 2329 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AAGTACCAGGGCCACTGTTAC 0.642000 30 19 0 0 0.010504 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187698678 187698678 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:187698678G>A uc002upu.1 - 5 863 c.823C>T c.(823-825)Cgt>Tgt p.R275C NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA. 275 apoptosis zinc ion binding p.R275C(4) cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) TGTACCTCACGAAATGTAAAC 0.363000 26 16 0 0 0.004990 0 0 DGKD 8527 broad.mit.edu 37 2 234357995 234357995 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:234357995C>T uc002vui.1 + 14 1873 c.1861C>T c.(1861-1863)Cgt>Tgt p.R621C DGKD_uc002vuj.1_Missense_Mutation_p.R577C|DGKD_uc010fyh.1_Missense_Mutation_p.R488C|DGKD_uc010fyi.1_Non-coding_Transcript NM_152879 NP_690618 Q16760 DGKD_HUMAN Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA. 621 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) GAAAGCAATTCGTCAGATCAT 0.582000 OREG0015296 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 14 0 0 0.001855 0 0 AKNA 80709 broad.mit.edu 37 9 117139527 117139527 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr9:117139527G>A uc004biq.3 - 1 695 c.560C>T c.(559-561)tCc>tTc p.S187F AKNA_uc004bio.3_5'Flank|AKNA_uc004bip.3_Missense_Mutation_p.S106F|AKNA_uc004bir.3_Missense_Mutation_p.S187F|AKNA_uc004bis.3_Missense_Mutation_p.S187F|AKNA_uc010mve.2_Missense_Mutation_p.S68F|AKNA_uc004biu.1_Intron|AKNA_uc004biv.1_Missense_Mutation_p.S187F|AKNA_uc004biw.1_Missense_Mutation_p.S187F NM_030767 NP_110394 Q7Z591 AKNA_HUMAN Homo sapiens AT-hook transcription factor (AKNA), mRNA. 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 GTTGACCTCGGAATGTTCAGA 0.592000 23 26 0 0 0.005443 0 0 GRAMD3 65983 broad.mit.edu 37 5 125820190 125820190 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:125820190G>A uc011cwt.2 + 9 1225 c.989G>A c.(988-990)gGa>gAa p.G330E GRAMD3_uc003ktu.3_Missense_Mutation_p.G315E|GRAMD3_uc011cwv.2_Missense_Mutation_p.G323E|GRAMD3_uc011cww.2_Missense_Mutation_p.G211E|GRAMD3_uc011cwx.2_Non-coding_Transcript|GRAMD3_uc011cwy.2_Missense_Mutation_p.G206E|GRAMD3_uc011cwz.2_Missense_Mutation_p.G299E|GRAMD3_uc011cwu.1_Missense_Mutation_p.G299E NM_001146319 NP_001139791 Q96HH9 GRAM3_HUMAN Homo sapiens GRAM domain containing 3 (GRAMD3), transcript variant 1, mRNA. 315 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108) GTACCTGAAGGAAAAGCCAAG 0.453000 38 22 0 0 0.002780 0 0 TRPC6 7225 broad.mit.edu 37 11 101340233 101340233 + Splice_Site SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:101340233C>T uc001pgk.4 - 10 2835 c.2410_splice c.e10-1 p.I804_splice TRPC6_uc009ywy.3_Splice_Site_p.I688_splice|TRPC6_uc009ywz.1_Splice_Site_p.I749_splice NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA. 804 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) cttcatttatcttttaaagat 0.274000 2 15 0 0 0.002450 0 0 HTR3C 170572 broad.mit.edu 37 3 183774074 183774074 + Splice_Site SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:183774074C>T uc003fmk.3 + 4 423 c.389_splice c.e4+1 p.S130_splice NM_130770 NP_570126 Q8WXA8 5HT3C_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA. 130 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) ATCGTGGAATCGTGCGTATGC 0.502000 48 25 0 0 0.006320 0 0 OTUD5 55593 broad.mit.edu 37 X 48780999 48780999 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:48780999C>T uc004dlu.3 - 7 1566 c.1505G>A c.(1504-1506)gGg>gAg p.G502E OTUD5_uc004dlt.4_Missense_Mutation_p.G497E|OTUD5_uc004dlv.3_Missense_Mutation_p.G497E|OTUD5_uc011mmp.2_Missense_Mutation_p.G280E NM_017602 NP_060072 Q96G74 OTUD5_HUMAN Homo sapiens OTU domain containing 5 (OTUD5), transcript variant 1, mRNA. 502 negative regulation of type I interferon production cysteine-type peptidase activity endometrium(2)|large_intestine(3)|lung(6)|pancreas(2) 13 CCGGTCGGCCCCTGCCGAGAA 0.612000 2 11 0 0 0.008291 0 0 TBXA2R 6915 broad.mit.edu 37 19 3600423 3600423 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:3600423G>A uc002lyg.2 - 1 597 c.210C>T c.(208-210)ctC>ctT p.L70L TBXA2R_uc021umv.1_Silent_p.L70L NM_001060 NP_001051 P21731 TA2R_HUMAN Homo sapiens thromboxane A2 receptor (TBXA2R), transcript variant a, mRNA. 70 platelet activation integral to plasma membrane guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) Ridogrel(DB01207) CGGTGAGGACGAGGCCGCAGA 0.711000 22 8 0 0 0.004482 0 0 RDH16 8608 broad.mit.edu 37 12 57348713 57348713 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:57348713C>T uc001smi.4 - 1 721 c.549G>A c.(547-549)gtG>gtA p.V183V RDH16_uc009zpa.3_Intron NM_003708 NP_003699 O75452 RDH16_HUMAN Homo sapiens retinol dehydrogenase 16 (all-trans) (RDH16), mRNA. 183 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9) 16 AGAAGGCTTCCACGCCATACT 0.582000 25 15 0 0 0.004007 0 0 FDX1L 112812 broad.mit.edu 37 19 10426573 10426573 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:10426573C>T uc002mny.1 - 0 119 c.100G>A c.(100-102)Ggg>Agg p.G34R FDX1L_uc002mnx.1_Non-coding_Transcript NM_001031734 NP_001026904 Q6P4F2 ADXL_HUMAN Homo sapiens ferredoxin 1-like (FDX1L), nuclear gene encoding mitochondrial protein, mRNA. 34 electron transport chain|transport mitochondrial matrix 2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06) ACCCCCTCCCCCGACCCGGAA 0.701000 19 15 0 0 0.003163 0 0 AFMID 125061 broad.mit.edu 37 17 76202102 76202102 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:76202102C>T uc002juz.3 + 9 925 c.871C>T c.(871-873)Ctg>Ttg p.L291L AFMID_uc002jva.3_Silent_p.L286L|AFMID_uc002jvb.3_Silent_p.I93I NM_001145526 NP_001138998 Q63HM1 AFMID_HUMAN Homo sapiens arylformamidase (AFMID), transcript variant 1, mRNA. 286 cytosol|nucleus arylformamidase activity autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1) 19 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134) TGTTGAGAATCTGACCCAGAA 0.552000 34 12 0 0 0.001855 0 0 SLC52A3 113278 broad.mit.edu 37 20 741707 741707 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr20:741707G>A uc002wed.4 - 4 1712 c.1373C>T c.(1372-1374)tCg>tTg p.S458L SLC52A3_uc002wee.2_3'UTR NM_033409 NP_212134 Q9NQ40 RFT2_HUMAN Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA. 458 sensory perception of sound integral to plasma membrane riboflavin transporter activity GTCCGCGGACGAGAAGAGCCG 0.687000 6 4 0 0 0.000602 0 0 TLR1 7096 broad.mit.edu 37 4 38798375 38798375 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:38798375G>A uc003gtl.3 - 3 2352 c.2078C>T c.(2077-2079)tCc>tTc p.S693F TLR1_uc021xnn.1_Missense_Mutation_p.S693F NM_003263 NP_003254 Q15399 TLR1_HUMAN Homo sapiens toll-like receptor 1 (TLR1), mRNA. 693 TIR. cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane protein heterodimerization activity|transmembrane receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2) 28 AACAAAGATGGACTTGTAACT 0.398000 69 38 0 0 0.009718 0 0 RGPD4 285190 broad.mit.edu 37 2 108487290 108487290 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr2:108487290G>A uc010ywk.2 + 19 2912 c.2830G>A c.(2830-2832)Gat>Aat p.D944N RGPD4_uc002tdu.3_Missense_Mutation_p.D131N|RGPD4_uc010ywl.2_Non-coding_Transcript NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 944 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TCTTGAAAATGATACTGGCTT 0.413000 138 79 0 0 0.003610 0 0 MICAL3 57553 broad.mit.edu 37 22 18382276 18382276 + Missense_Mutation SNP T G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:18382276T>G uc002zng.4 - 6 1239 c.886A>C c.(886-888)Aca>Cca p.T296P MICAL3_uc011agl.2_Missense_Mutation_p.T296P|MICAL3_uc002znh.2_Missense_Mutation_p.T296P|MICAL3_uc002znj.1_5'UTR|MICAL3_uc002znk.1_Missense_Mutation_p.T296P|MICAL3_uc002znl.1_Intron|MICAL3_uc010grf.3_Missense_Mutation_p.T296P|MICAL3_uc011agm.1_Missense_Mutation_p.T296P NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA. 296 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) AAATAGTGTGTGTCATCTTTG 0.433000 12 6 0 0 0.001168 0 0 ARRDC2 27106 broad.mit.edu 37 19 18119242 18119242 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr19:18119242C>T uc002nhv.3 + 0 266 c.123C>T c.(121-123)gcC>gcT p.A41A ARRDC2_uc002nhu.3_Intron NM_015683 NP_056498 Q8TBH0 ARRD2_HUMAN Homo sapiens arrestin domain containing 2 (ARRDC2), transcript variant 1, mRNA. 41 endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1) 12 TGTCAAGCGCCGCGCGTGTGG 0.751000 9 4 0 0 0.009096 0 0 SLC5A8 160728 broad.mit.edu 37 12 101551071 101551071 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:101551071C>T uc001thz.4 - 14 2209 c.1819G>A c.(1819-1821)Ggg>Agg p.G607R NM_145913 NP_666018 Q8N695 SC5A8_HUMAN Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA. 607 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 AAACGAGTCCCATTGCTCTTG 0.368000 23 14 0 0 0.004990 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813480 106813480 + Silent SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:106813480A>G uc003ymd.3 + 7 1193 c.1170A>G c.(1168-1170)aaA>aaG p.K390K ZFPM2_uc011lhs.2_Silent_p.K121K NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 390 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CTAGCGGCAAACTTCCCAGAG 0.517000 12 68 0 0 0.003610 0 0 OR8B4 283162 broad.mit.edu 37 11 124293956 124293956 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:124293956C>T uc010sak.2 - 0 812 c.812G>A c.(811-813)aGa>aAa p.R271K NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA. 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TGAGGCAAATCTGCCATGGTT 0.453000 5 35 0 0 0.003755 0 0 NRAP 4892 broad.mit.edu 37 10 115411667 115411667 + Splice_Site SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:115411667C>T uc001lal.3 - 7 735 c.571_splice c.e7-1 p.V191_splice NRAP_uc001laj.3_Splice_Site_p.V191_splice|NRAP_uc001lak.3_Splice_Site_p.V191_splice NM_198060 NP_932326 Q86VF7 NRAP_HUMAN Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA. 191 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TATACTCCACCTGATGAGAAG 0.552000 14 11 0 0 0.001855 0 0 EFTUD2 9343 broad.mit.edu 37 17 42929142 42929142 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:42929142G>A uc002ihn.2 - 26 3020 c.2759C>T c.(2758-2760)cCc>cTc p.P920L EFTUD2_uc010wje.1_Missense_Mutation_p.P885L|EFTUD2_uc010wjf.1_Missense_Mutation_p.P910L NM_004247 NP_001136077 Q15029 U5S1_HUMAN Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA. 920 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) TGGCTCCAAGGGGCGGATGAC 0.557000 21 6 0 0 0.004482 0 0 TRIML1 339976 broad.mit.edu 37 4 189068196 189068196 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr4:189068196G>A uc003izm.1 + 5 1192 c.1077G>A c.(1075-1077)aaG>aaA p.K359K TRIML1_uc003izn.1_Silent_p.K83K NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA. 359 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GCATCTGCAAGGACTCTGTGA 0.532000 48 25 0 0 0.003330 0 0 C10orf12 26148 broad.mit.edu 37 10 98742449 98742449 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:98742449C>T uc001kmv.3 + 0 1409 c.1302C>T c.(1300-1302)gaC>gaT p.D434D C10orf12_uc009xvg.2_Silent_p.D744D NM_015652 NP_056467 Q8N655 CJ012_HUMAN Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA. 434 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) TAAATGTCGACCCACTCTTGA 0.512000 137 79 0 0 0.003610 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140774388 140774388 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr5:140774388G>A uc003lkd.2 + 0 2906 c.2008G>A c.(2008-2010)Gaa>Aaa p.E670K 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_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.E670K|PCDHGC5_uc003lkc.2_Intron NM_032088 NP_114477 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA. 672 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.E670K(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) CAGCATCCCCGAAGTCCTGAC 0.627000 21 15 0 0 0.003163 0 0 TCRA 0 broad.mit.edu 37 14 22363194 22363194 + Missense_Mutation SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr14:22363194T>C uc021rpj.1 + 1 496 c.325T>C c.(325-327)Ttc>Ctc p.F109L TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron RecName: Full=T-cell receptor alpha chain V region PY14; Flags: Precursor; GGCTGAGTACTTCTGTGCTGT 0.483000 29 25 0 0 0.009535 0 0 MYOM3 127294 broad.mit.edu 37 1 24402693 24402693 + Missense_Mutation SNP T C C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr1:24402693T>C uc001bin.4 - 20 2820 c.2657A>G c.(2656-2658)cAa>cGa p.Q886R MYOM3_uc001bim.4_Missense_Mutation_p.Q543R|MYOM3_uc001bio.3_Missense_Mutation_p.Q886R NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN Homo sapiens myomesin family, member 3 (MYOM3), mRNA. 886 Fibronectin type-III 5. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) CATGGACGGTTGCCCCAGACC 0.627000 58 28 0 0 0.002836 0 0 CACNA1D 776 broad.mit.edu 37 3 53787613 53787613 + Silent SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:53787613C>T uc003dgv.4 + 28 3853 c.3690C>T c.(3688-3690)tcC>tcT p.S1230S CACNA1D_uc003dgu.4_Silent_p.S1250S|CACNA1D_uc003dgy.4_Silent_p.S1230S|CACNA1D_uc003dgw.4_Silent_p.S897S|CACNA1D_uc003dgx.1_Silent_p.S378S NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. 1230 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) ACGAGCAGTCCAAGATGTTCA 0.517000 41 23 0 0 0.002780 0 0 ZNF488 118738 broad.mit.edu 37 10 48370805 48370805 + Silent SNP G A A rs145714764 TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:48370805G>A uc001jex.3 + 1 435 c.273G>A c.(271-273)ccG>ccA p.P91P ZNF488_uc021ppx.1_Silent_p.P91P NM_153034 NP_694579 Q96MN9 ZN488_HUMAN Homo sapiens zinc finger protein 488 (ZNF488), mRNA. 91 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 CGCTGCCCCCGAAGACACGTG 0.687000 8 11 0 0 0.010729 0 0 MPST 4357 broad.mit.edu 37 22 37420687 37420687 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr22:37420687C>T uc011amu.2 + 1 667 c.491C>T c.(490-492)tCc>tTc p.S164F MPST_uc003aqi.1_Missense_Mutation_p.S144F|MPST_uc003aqm.3_Missense_Mutation_p.S144F|MPST_uc003aql.3_Missense_Mutation_p.S144F|MPST_uc003aqj.3_Missense_Mutation_p.S144F NM_021126 NP_001123989 P25325 THTM_HUMAN Homo sapiens mercaptopyruvate sulfurtransferase (MPST), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 144 cyanate catabolic process|response to toxin 3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1) 7 CCGCTCAGCTCCGGCAAGAGC 0.672000 20 5 0 0 0.001168 0 0 CANT1 124583 broad.mit.edu 37 17 76993529 76993529 + Missense_Mutation SNP A G G TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:76993529A>G uc002jwj.3 - 1 671 c.176T>C c.(175-177)cTc>cCc p.L59P CANT1_uc002jwn.3_Missense_Mutation_p.L59P|CANT1_uc002jwk.3_Missense_Mutation_p.L59P|CANT1_uc002jwl.2_Non-coding_Transcript NM_138793 NP_620148 Q8WVQ1 CANT1_HUMAN Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA. 59 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity CANT1/ETV4(3) cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) GTGGGAGCAGAGCAGCCAGAG 0.687000 T ETV4 prostate 15 18 0 0 0.006122 0 0 ADAM28 10863 broad.mit.edu 37 8 24170961 24170961 + Silent SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr8:24170961G>A uc003xdy.3 + 5 527 c.444G>A c.(442-444)cgG>cgA p.R148R ADAM28_uc003xdx.3_Silent_p.R148R|ADAM28_uc011kzz.2_Intron|ADAM28_uc011laa.2_Non-coding_Transcript NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 148 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) CCATACATCGGGATGGACAGG 0.448000 8 39 0 0 0.004289 0 0 ECE2 9718 broad.mit.edu 37 3 184005631 184005631 + Missense_Mutation SNP G A A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:184005631G>A uc003fni.4 + 10 1662 c.1624G>A c.(1624-1626)Gtg>Atg p.V542M ECE2_uc011brh.1_Missense_Mutation_p.V395M|ECE2_uc003fnl.4_Missense_Mutation_p.V470M|ECE2_uc003fnm.4_Missense_Mutation_p.V424M|ECE2_uc003fnk.4_Missense_Mutation_p.V395M|ECE2_uc011bri.1_Missense_Mutation_p.V457M|ECE2_uc010hxv.3_Missense_Mutation_p.V186M NM_014693 NP_055508 O60344 ECE2_HUMAN Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA. 542 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing Golgi membrane|cytoplasmic vesicle membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity p.I542I(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ACAGTCCTGTGTGCCGAGGTG 0.572000 39 21 0 0 0.010504 0 0 TEX14 56155 broad.mit.edu 37 17 56665017 56665017 + Missense_Mutation SNP C T T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:56665017C>T uc010dcz.2 - 16 2849 c.2731G>A c.(2731-2733)Gaa>Aaa p.E911K TEX14_uc002iwr.2_Missense_Mutation_p.E905K|TEX14_uc002iws.2_Missense_Mutation_p.E905K|TEX14_uc010dda.2_Missense_Mutation_p.E685K NM_001201457 NP_001188386 Q8IWB6 TEX14_HUMAN Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA. 911 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) GAAACAGGTTCCACACTCATC 0.413000 OREG0024616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 62 19 0 0 0.012319 0 0 ZNF148 7707 broad.mit.edu 37 3 124997999 124998000 + Frame_Shift_Del DEL AT - - TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr3:124997999_124998000delAT uc003ehx.4 - 5 1037_1038 c.551_552delAT c.(550-552)tatfs p.Y184fs SLC12A8_uc003ehw.4_Frame_Shift_Del_p.I8fs|ZNF148_uc003ehz.4_Frame_Shift_Del_p.Y184fs|ZNF148_uc010hsa.3_Frame_Shift_Del_p.Y184fs|ZNF148_uc003eia.4_Frame_Shift_Del_p.Y184fs|ZNF148_uc003ehy.3_Intron NM_021964 NP_068799 Q9UQR1 ZN148_HUMAN Homo sapiens zinc finger protein 148 (ZNF148), mRNA. 184 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 TCTGTAAGTGATAGTTCGTTCT 0.356 --- 99 --- --- 45 --- C10orf54 64115 broad.mit.edu 37 10 73521670 73521672 + In_Frame_Del DEL CAT - - TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr10:73521670_73521672delCAT uc001jsd.3 - 1 335_337 c.194_196delATG c.(193-198)gatgtg>gtg p.D65del CDH23_uc001jrx.4_Intron|C10orf54_uc001jse.3_5'UTR NM_022153 NP_071436 Q9H7M9 GI24_HUMAN Homo sapiens chromosome 10 open reading frame 54 (C10orf54), mRNA. 65 Ig-like. integral to membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 9 TAGAAGGTCACATCGTGCCCTTT 0.626 --- 29 --- --- 30 --- CBL 867 broad.mit.edu 37 11 119148871 119148874 + Splice_Site DEL CAAA - - TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr11:119148871_119148874delCAAA uc001pwe.3 + 8 1234 c.1096_splice c.e8-2 p.E366_splice NM_005188 NP_005179 P22681 CBL_HUMAN Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA. 366 Asp/Glu-rich (acidic).|Linker. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.?(2) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) TTTTTTTAATCAAAGGAACAATAT 0.289 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies --- 4 --- --- 19 --- ARID2 196528 broad.mit.edu 37 12 46246254 46246254 + Frame_Shift_Del DEL G - - TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:46246254delG uc001ros.1 + 14 4348 c.4348delG c.(4348-4350)ggafs p.G1450fs ARID2_uc001ror.3_Frame_Shift_Del_p.G1450fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.G906fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.G1077fs|ARID2_uc001rou.1_Frame_Shift_Del_p.G784fs NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 1450 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TTTGCTTAATGGACCTCTAGC 0.428 """N, S, F""" hepatocellular carcinoma --- 68 --- --- 37 --- KRT5 3852 broad.mit.edu 37 12 52908747 52908749 + In_Frame_Del DEL GGA - - TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr12:52908747_52908749delGGA uc001san.3 - 8 1913_1915 c.1750_1752delTCC c.(1750-1752)tccdel p.S584del NM_000424 NP_000415 P13647 K2C5_HUMAN Homo sapiens keratin 5 (KRT5), mRNA. 584 Ser-rich.|Tail. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) AGCTCTTCCGGGAGGAGGAGGTG 0.591 --- 65 --- --- 25 --- EVPL 2125 broad.mit.edu 37 17 74004880 74004895 + Frame_Shift_Del DEL TCCAGCTTGACCACTT - - TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chr17:74004880_74004895delTCCAGCTTGACCACTT uc010wss.1 - 21 4685_4700 c.4457_4472delAAGTGGTCAAGCTGGA c.(4456-4473)gaagtggtcaagctggagfs p.E1486fs EVPL_uc002jqi.2_Frame_Shift_Del_p.E1464fs|EVPL_uc010wst.1_Frame_Shift_Del_p.E934fs NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 1464 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CGGGTCCTTCTCCAGCTTGACCACTTCCTCCATGAT 0.611 --- 163 --- --- 28 --- FAM58A 92002 broad.mit.edu 37 X 152858094 152858094 + Frame_Shift_Del DEL T - - TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6920fd0a-82bb-43a4-bc78-c29c42961148 759ea550-cc56-4f70-bd66-dceaffbd4b0d g.chrX:152858094delT uc011myr.2 - 4 626 c.515delA c.(514-516)gacfs p.D172fs FAM58A_uc011mys.2_Frame_Shift_Del_p.D172fs NM_152274 NP_689487 Q8N1B3 FA58A_HUMAN Homo sapiens family with sequence similarity 58, member A (FAM58A), transcript variant 1, mRNA. 176 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ATGGTAGCTGTCCCGCAGCAG 0.677 --- 7 --- --- 17 ---