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 ESR2 2100 broad.mit.edu 37 14 64727379 64727379 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr14:64727379C>T uc001xha.1 - 4 1208 c.740G>A c.(739-741)aGa>aAa p.R247K ESR2_uc001xgy.2_Missense_Mutation_p.R247K|ESR2_uc001xgu.3_Missense_Mutation_p.R247K|ESR2_uc001xgv.3_Missense_Mutation_p.R247K|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Missense_Mutation_p.R247K|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Missense_Mutation_p.R247K|ESR2_uc001xgz.2_Missense_Mutation_p.R247K|ESR2_uc010aqd.1_Non-coding_Transcript NM_001437 NP_001428 Q92731 ESR2_HUMAN Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA. 247 Steroid-binding. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) GCCGCCACTTCTCTTGGCCTT 0.667000 4 41 0 0 1 0 0 NCAPH2 29781 broad.mit.edu 37 22 50960172 50960172 + Missense_Mutation SNP A G G TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr22:50960172A>G uc003blx.4 + 11 1125 c.1003A>G c.(1003-1005)Agg>Ggg p.R335G NCAPH2_uc003blv.3_Missense_Mutation_p.R335G|NCAPH2_uc003blr.4_Missense_Mutation_p.R335G NM_001185011 NP_001171940 Q6IBW4 CNDH2_HUMAN Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA. 335 chromosome condensation chromosome|nucleus breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1) 24 all_cancers(38;4.58e-14)|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) BRCA - Breast invasive adenocarcinoma(115;0.212) GCCCCCAGGTAGGCCTTACTC 0.647000 41 34 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26513471 26513471 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:26513471C>T uc001isp.2 + 5 1118 c.615C>T c.(613-615)ttC>ttT p.F205F GAD2_uc001isq.2_Silent_p.F205F NM_001134366 NP_001127838 Q05329 DCE2_HUMAN Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA. 205 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) ATTTCAGGTTCACCTATGAAA 0.363000 27 22 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70355283 70355283 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr4:70355283C>T uc003hek.4 - 2 923 c.876G>A c.(874-876)atG>atA p.M292I UGT2B4_uc011cap.2_Missense_Mutation_p.M156I|UGT2B4_uc003hel.4_Missense_Mutation_p.M292I NM_021139 NP_066962 P06133 UD2B4_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA. 292 EME -> KWK (in Ref. 4; AAC32272). estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 CAAACTCTTCCATTTCCTGTG 0.363000 69 60 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 16032696 16032696 + Splice_Site SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr8:16032696C>T uc010lsu.3 - 3 335 c.271_splice c.e3+1 p.A91_splice MSR1_uc003wwz.3_Splice_Site_p.A73_splice|MSR1_uc003wxa.3_Splice_Site_p.A73_splice|MSR1_uc003wxb.3_Splice_Site_p.A73_splice|MSR1_uc011kxz.2_Intron NM_138715 NP_619729 P21757 MSRE_HUMAN Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA. 73 Spacer (Probable). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) GTTACGTTACCTGCCACTATT 0.418000 22 20 0 0 1 0 0 GPR128 84873 broad.mit.edu 37 3 100373734 100373734 + Silent SNP T C C TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:100373734T>C uc003duc.3 + 11 1703 c.1435T>C c.(1435-1437)Ttg>Ctg p.L479L GPR128_uc011bhc.2_Silent_p.L180L|GPR128_uc003dud.3_Silent_p.L2L NM_032787 NP_116176 Q96K78 GP128_HUMAN Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA. 479 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 CATATCAATGTTGATTTTCAA 0.308000 66 50 0 0 1 0 0 FBXL18 80028 broad.mit.edu 37 7 5540382 5540382 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr7:5540382G>A uc003soo.2 - 2 1612 c.1518C>T c.(1516-1518)atC>atT p.I506I FBXL18_uc003son.4_Silent_p.I506I NM_024963 NP_079239 Q96ME1 FXL18_HUMAN Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA. 506 FBXL18/RNF216(2) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3) 21 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) GCGAGTTGCGGATGGCGGGCT 0.667000 9 8 0 0 1 0 0 CDS1 1040 broad.mit.edu 37 4 85564255 85564255 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr4:85564255G>A uc011ccv.2 + 10 1609 c.1111G>A c.(1111-1113)Ggc>Agc p.G371S CDS1_uc010ike.1_Intron NM_001263 NP_001254 Q92903 CDS1_HUMAN Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA. 371 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) CCCATTTGGAGGCTTCTTTGC 0.383000 91 78 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38897412 38897412 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:38897412G>A uc021yzh.1 + 74 11353 c.11244G>A c.(11242-11244)aaG>aaA p.K3748K DNAH8_uc003ooe.2_Silent_p.K3531K|DNAH8_uc003oog.1_5'UTR|LOC100131047_uc003oof.2_Intron 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 TATTAGAAAAGAATTTTATTA 0.353000 28 18 0 0 1 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73961533 73961533 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr7:73961533C>T uc003uaq.3 + 16 2226 c.1833C>T c.(1831-1833)tcC>tcT p.S611S GTF2IRD1_uc010lbq.3_Silent_p.S643S|GTF2IRD1_uc003uap.3_Silent_p.S611S|GTF2IRD1_uc003uar.1_Silent_p.S611S NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA. 611 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 AAGGCATCTCCCTCCGCAGGC 0.587000 36 37 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51497448 51497448 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:51497448G>A uc003pah.1 - 64 11856 c.11580C>T c.(11578-11580)atC>atT p.I3860I NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 3860 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) AAGCAGCCAGGATGATGGTCG 0.483000 29 28 0 0 1 0 0 IQCH 64799 broad.mit.edu 37 15 67636459 67636459 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr15:67636459G>A uc002aqo.2 + 5 664 c.567G>A c.(565-567)caG>caA p.Q189Q IQCH_uc010ujv.2_Silent_p.Q21Q|IQCH_uc002aqn.2_Silent_p.Q16Q|IQCH_uc002aqp.2_5'UTR|IQCH_uc002aqq.2_Intron NM_001031715 NP_001026885 Q86VS3 IQCH_HUMAN Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA. 189 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) TTACCTTTCAGAATCCACCCA 0.393000 38 20 0 0 1 0 0 ITIH5 80760 broad.mit.edu 37 10 7621867 7621867 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:7621867G>A uc021pmv.1 - 8 1375 c.1269C>T c.(1267-1269)acC>acT p.T423T ITIH5_uc021pmu.1_Silent_p.T209T|ITIH5_uc001ijr.2_Silent_p.T423T NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA. 423 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 CGGCCTCTCGGGTGTTGTTGA 0.607000 37 32 0 0 1 0 0 NLGN4Y 22829 broad.mit.edu 37 Y 16952315 16952315 + Nonsense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chrY:16952315C>T uc011nas.1 + 6 1863 c.1684C>T c.(1684-1686)Cag>Tag p.Q562* NLGN4Y_uc004fte.2_Nonsense_Mutation_p.Q374*|NLGN4Y_uc004ftg.2_Nonsense_Mutation_p.Q542*|NLGN4Y_uc004ftf.2_Nonsense_Mutation_p.Q235*|NLGN4Y_uc004fth.2_Nonsense_Mutation_p.Q542* NM_001206850 NP_001193779 Q8NFZ3 NLGNY_HUMAN Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA. 542 brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|integral to plasma membrane|synapse neurexin binding|receptor activity large_intestine(3)|lung(7)|prostate(2)|skin(2) 14 ACCAGTTCCTCAGGATACCAA 0.383000 10 64 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 114141243 114141243 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chrX:114141243C>T uc004epu.1 + 5 1370 c.642C>T c.(640-642)ttC>ttT p.F214F HTR2C_uc010nqc.1_Silent_p.F214F|HTR2C_uc004epv.1_Missense_Mutation_p.R183C NM_000868 NP_000859 P28335 5HT2C_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA. 214 ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) ACCCAAATTTCGTTCTTATTG 0.468000 15 162 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50936966 50936966 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr18:50936966C>T uc002lfe.2 + 19 3696 c.3080C>T c.(3079-3081)tCa>tTa p.S1027L DCC_uc010xdr.1_Missense_Mutation_p.S855L|DCC_uc010dpf.2_Missense_Mutation_p.S662L NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 1027 Fibronectin type-III 6. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GCACGAAATTCAAAAGGAGTG 0.378000 59 44 0 0 1 0 0 IFNA10 3446 broad.mit.edu 37 9 21206905 21206905 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr9:21206905C>T uc003zoq.1 - 0 238 c.192G>A c.(190-192)gaG>gaA p.E64E IFNA14_uc003zoo.1_Intron NM_002171 NP_002162 P01566 IFN10_HUMAN Homo sapiens interferon, alpha 10 (IFNA10), mRNA. 64 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17) CATCAAACTCCTCCTGGGGGA 0.512000 109 68 0 0 1 0 0 RP11-165H20.1 149620 broad.mit.edu 37 1 111824267 111824267 + RNA SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:111824267C>T uc009wgb.3 + 1 c.125C>T Homo sapiens CHIA-like pseudogene (RP11-165H20.1), non-coding RNA. ACCCCTGCCTCTGTACCCACT 0.532000 39 21 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151155772 151155772 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:151155772G>A uc011bod.2 - 5 6577 c.6577C>T c.(6577-6579)Cat>Tat p.H2193Y IGSF10_uc011bob.2_Missense_Mutation_p.H220Y|IGSF10_uc011boc.2_Missense_Mutation_p.H172Y NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA. 2193 Ig-like C2-type 8. 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) CCATTGGCATGAAATGTGTAC 0.443000 65 48 0 0 1 0 0 OR4E2 26686 broad.mit.edu 37 14 22133748 22133748 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr14:22133748G>A uc010tmd.2 + 0 452 c.452G>A c.(451-453)gGg>gAg p.G151E NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA. 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) CTCTGGTTGGGGGGTACTGTT 0.483000 71 75 0 0 1 0 0 SIK3 23387 broad.mit.edu 37 11 116729357 116729357 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:116729357G>A uc001ppy.3 - 19 2542 c.2506C>T c.(2506-2508)Ctg>Ttg p.L836L SIK3_uc001ppz.3_Intron|SIK3_uc001pqa.3_Intron|SIK3_uc001ppw.3_Intron|SIK3_uc001ppx.3_Intron|SIK3_uc001pqb.3_Silent_p.L139L NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN Homo sapiens SIK family kinase 3 (SIK3), mRNA. 836 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.P836S(1) breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 TCCGAAAACAGATGGGGGTGT 0.547000 62 39 0 0 1 0 0 CACNG7 59284 broad.mit.edu 37 19 54416194 54416194 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:54416194G>A uc002qcr.2 + 0 204 c.109G>A c.(109-111)Gaa>Aaa p.E37K CACNG7_uc010era.2_Missense_Mutation_p.E37K NM_031896 NP_114102 P62955 CCG7_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA. 37 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|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) GCTGTACATGGAAGAAGGCAC 0.627000 21 13 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179593051 179593051 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:179593051C>T uc021vsy.1 - 63 15993 c.15768G>A c.(15766-15768)atG>atA p.M5256I TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.M1917I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 6183 Ig-like 33. 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) CCTTGCACTCCATATGAATAG 0.378000 18 12 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266103 41266103 + Missense_Mutation SNP G A A rs121913399 TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:41266103G>A uc010hia.1 + 3 256 c.100G>A c.(100-102)Gga>Aga p.G34R CTNNB1_uc003ckq.2_Missense_Mutation_p.G34R|CTNNB1_uc003ckp.2_Missense_Mutation_p.G34R|CTNNB1_uc003ckr.2_Missense_Mutation_p.G34R|CTNNB1_uc011azf.1_Missense_Mutation_p.G27R|CTNNB1_uc011azg.1_Intron|AK311005_uc010hib.1_Non-coding_Transcript NM_001904 NP_001895 P35222 CTNB1_HUMAN Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA. 34 G -> E (in PTR).|G -> R (in hepatocellular carcinoma).|G -> V (in hepatoblastoma; dbSNP:rs28931589). Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.G34R(185)|p.S33C(176)|p.A5_A80del(119)|p.S33F(103)|p.G34E(82)|p.G34V(80)|p.S33Y(62)|p.S33P(49)|p.S33A(16)|p.A5_A80>D(14)|p.A5_Q143del(14)|p.Q28_H134del(10)|p.H24_S47del(9)|p.W25_I140del(7)|p.V22_G38del(6)|p.T3_A126del(4)|p.S33L(4)|p.M5_N141>D(4)|p.D32_S47del(4)|p.A5_Y142>D(4)|p.?(4)|p.L10_N141del(4)|p.S33N(3)|p.S23_S33del(3)|p.Q28_Q61del(2)|p.A20_N141del(2)|p.D11_Y142>H(2)|p.H24_G38del(2)|p.S29_H36del(2)|p.Y30_A97del(2)|p.A20_A80del(2)|p.Q28_A43del(2)|p.E15_I140>V(2)|p.H24_M131del(2)|p.W25_I35del(2)|p.GIHS34?(2)|p.A5_I35del(2)|p.A13_R151del(2)|p.M1_A87del(2)|p.W25_H36del(2)|p.V22_T102del(2)|p.S23_A39del(2)|p.A21_A80del(2)|p.Y30_S33del(2)|p.M14_S45del(2)|p.V22_S33del(2)|p.Q4_A80del(2)|p.V22_L139>V(2)|p.D32_H36>D(2)|p.S33_G34insGTS(2)|p.P16_K133del(2)|p.A5_T59del(2)|p.A20_I35del(2)|p.M1_V173del(2)|p.M8_A80del(2)|p.S33_S37del(2)|p.Y30_T40del(2)|p.S33_G34insGI(2)|p.A5_Q143>E(2)|p.Y30_A80del(2)|p.A5fs*7(2)|p.A5_T40del(2)|p.A5_E54del(2)|p.S23_I35del(2)|p.V22_S71>A(2)|p.V22_Y64del(2)|p.A20_S111del(2)|p.D32_H36del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.S33T(1)|p.S33S(1)|p.A20_R151del(1)|p.D17_P128del(1)|p.L7_I140del(1)|p.M8_L132del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.E9_A80del(1)|p.A20_Q143del(1)|p.S23_I140del(1)|p.W25_S33del(1)|p.Q4_D144del(1)|p.S33_G34del(1)|p.V22_A97del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.G34_S37del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.A5_R90del(1)|p.W25_A80del(1)|p.E9_I140del(1)|p.D32_S33insS(1)|p.S33_G34insS(1)|p.M1_T42del(1)|p.A5_Q72del(1)|p.D32fs*9(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.D17_A126del(1)|p.Q4_Y142del(1)|p.5_142>(1)|p.A20_Q72del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) CCTGGACTCTGGAATCCATTC 0.488000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 18 20 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81249962 81249962 + Missense_Mutation SNP A T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr16:81249962A>T uc002fgh.1 - 1 351 c.351T>A c.(349-351)caT>caA p.H117Q PKD1L2_uc002fgj.3_Missense_Mutation_p.H117Q NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 117 C-type lectin. 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 CCTGCCCTCCATGCCAGTTGC 0.622000 47 33 0 0 1 0 0 FAM123B 139285 broad.mit.edu 37 X 63411312 63411312 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chrX:63411312G>A uc022byb.1 - 0 1855 c.1855C>T c.(1855-1857)Cat>Tat p.H619Y FAM123B_uc004dvo.3_Missense_Mutation_p.H619Y NM_152424 NP_689637 Q5JTC6 F123B_HUMAN Homo sapiens family with sequence similarity 123B (FAM123B), mRNA. 619 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(67) NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 225 TCCCTGCCATGAGCTTCCCAA 0.632000 5 20 0 0 1 0 0 SIM2 6493 broad.mit.edu 37 21 38098544 38098544 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr21:38098544C>T uc002yvr.2 + 5 724 c.668C>T c.(667-669)aCc>aTc p.T223I SIM2_uc002yvq.3_Missense_Mutation_p.T223I NM_005069 NP_005060 Q14190 SIM2_HUMAN Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA. 223 PAS 2. 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 AGTGCCATCACCGAGATCAAG 0.557000 41 35 0 0 1 0 0 SYMPK 8189 broad.mit.edu 37 19 46338455 46338455 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:46338455G>A uc002pdn.3 - 10 1519 c.1274C>T c.(1273-1275)gCc>gTc p.A425V SYMPK_uc002pdo.1_Missense_Mutation_p.A425V|SYMPK_uc002pdp.1_Missense_Mutation_p.A425V|SYMPK_uc002pdq.2_Missense_Mutation_p.A425V NM_004819 NP_004810 Q92797 SYMPK_HUMAN Homo sapiens symplekin (SYMPK), mRNA. 425 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) GGCTGGCATGGCCTCGGGTAG 0.567000 39 31 0 0 1 0 0 GDPD5 81544 broad.mit.edu 37 11 75160974 75160974 + Nonsense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:75160974G>A uc001owo.4 - 7 967 c.430C>T c.(430-432)Cag>Tag p.Q144* GDPD5_uc001owp.4_Nonsense_Mutation_p.Q144*|GDPD5_uc001own.4_5'UTR|GDPD5_uc009yuc.3_Nonsense_Mutation_p.Q6*|GDPD5_uc009yud.3_Intron|GDPD5_uc009yue.1_Intron NM_030792 NP_110419 Q8WTR4 GDPD5_HUMAN Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA. 144 glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2) 20 TCCCACAGCTGGGCCACGGCC 0.647000 29 16 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197390533 197390533 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:197390533C>T uc001gtz.3 + 5 1784 c.1575C>T c.(1573-1575)ttC>ttT p.F525F CRB1_uc010poz.2_Silent_p.F456F|CRB1_uc009wza.3_Silent_p.F413F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.F525F|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.F6F|CRB1_uc001gub.1_Silent_p.F174F NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 525 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.F525S(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 TTCTACTTTTCCGAAGCAACA 0.453000 57 40 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3673741 3673741 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr20:3673741C>T uc002wja.3 - 13 3546 c.3546G>A c.(3544-3546)gaG>gaA p.E1182E SIGLEC1_uc002wiz.4_Silent_p.E1182E|SIGLEC1_uc002wjb.1_5'UTR NM_023068 NP_075556 Q9BZZ2 SN_HUMAN Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA. 1182 Ig-like C2-type 12. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 CGCCATGGCTCTCCAGGAGGT 0.692000 12 16 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121980881 121980881 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:121980881C>T uc003eew.4 + 3 1437 c.999C>T c.(997-999)ttC>ttT p.F333F CASR_uc003eev.4_Silent_p.F333F NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 333 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) TCCGGGAATTCCTGAAGAAGG 0.537000 40 33 0 0 1 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24895592 24895592 + Missense_Mutation SNP G A A rs146807462 TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr13:24895592G>A uc001upj.3 + 3 749 c.688G>A c.(688-690)Gaa>Aaa p.E230K SPATA13_uc001upe.3_Non-coding_Transcript NM_178540 NP_848635 P0C862 C1T9A_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA. 230 C1q. collagen hormone activity endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) CCTGTATAACGAATTCAACCA 0.428000 120 65 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77657042 77657042 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:77657042C>T uc011bgk.2 + 21 3885 c.3242C>T c.(3241-3243)cCc>cTc p.P1081L ROBO2_uc021xat.1_Missense_Mutation_p.P1093L|ROBO2_uc003dpy.4_Missense_Mutation_p.P1077L|ROBO2_uc003dpz.3_Missense_Mutation_p.P1081L|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Missense_Mutation_p.P204L NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA. 1077 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) CTACCTCCCCCCCCAGTCCAG 0.453000 21 25 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152325685 152325685 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:152325685C>T uc001ezw.4 - 2 4650 c.4577G>A c.(4576-4578)gGa>gAa p.G1526E AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 1526 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) ATGTTGAGATCCACTTTGGCC 0.488000 236 156 0 0 1 0 0 ODZ1 10178 broad.mit.edu 37 X 123514862 123514862 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chrX:123514862C>T uc010nqy.3 - 31 7787 c.7723G>A c.(7723-7725)Gag>Aag p.E2575K ODZ1_uc011muj.2_Missense_Mutation_p.E2574K|ODZ1_uc004euj.3_Missense_Mutation_p.E2568K NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 2568 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 TCCCTCCCCTCTATGGTAAAA 0.483000 8 57 0 0 1 0 0 C1orf87 127795 broad.mit.edu 37 1 60505760 60505760 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:60505760G>A uc001czs.2 - 4 684 c.576C>T c.(574-576)tcC>tcT p.S192S NM_152377 NP_689590 Q8N0U7 CA087_HUMAN Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA. 192 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 CTAATAAGTTGGAACTCAAAG 0.453000 52 36 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49694346 49694346 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:49694346G>A uc003cxe.4 + 4 7471 c.7357G>A c.(7357-7359)Gag>Aag p.E2453K NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 2453 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) tctgcagctggagcagatcca 0.622000 6 7 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53679727 53679727 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr16:53679727G>A uc002ehp.3 - 16 2557 c.2493C>T c.(2491-2493)ccC>ccT p.P831P RPGRIP1L_uc002eho.4_Silent_p.P831P|RPGRIP1L_uc010vgy.2_Silent_p.P831P|RPGRIP1L_uc010cbx.3_Silent_p.P831P|RPGRIP1L_uc010vgz.1_Silent_p.P831P NM_015272 NP_056087 Q68CZ1 FTM_HUMAN Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA. 831 C2 2. negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) CATTGCTACTGGGAATGATAG 0.433000 90 53 0 0 1 0 0 BFSP1 631 broad.mit.edu 37 20 17489585 17489585 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr20:17489585G>A uc002wpo.3 - 4 723 c.684C>T c.(682-684)ggC>ggT p.G228G BFSP1_uc002wpp.3_Silent_p.G103G|BFSP1_uc010zrn.2_Silent_p.G89G|BFSP1_uc010zro.2_Silent_p.G89G NM_001195 NP_001186 Q12934 BFSP1_HUMAN Homo sapiens beaded filament structural protein 1, filensin (BFSP1), transcript variant 1, mRNA. 228 Coil 2.|Rod. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1) 18 GCACCTCCCGGCCCTCCTCCA 0.637000 8 6 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72147133 72147133 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr13:72147133G>A uc021rkj.1 - 3 1567 c.1144C>T c.(1144-1146)Cct>Tct p.P382S DACH1_uc021rkk.1_Intron|DACH1_uc021rkl.1_Intron NM_080759 NP_542937 Q9UI36 DACH1_HUMAN Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA. 432 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) ATCATAAAAGGAAGTTCCAGT 0.398000 28 25 0 0 1 0 0 WDR65 149465 broad.mit.edu 37 1 43652459 43652459 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:43652459G>A uc021omk.1 + 5 1197 c.1051G>A c.(1051-1053)Gaa>Aaa p.E351K EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.E340K|WDR65_uc001ciq.2_Missense_Mutation_p.E351K|WDR65_uc001cip.2_Missense_Mutation_p.E351K NM_001195831 NP_001182760 Q96MR6 WDR65_HUMAN Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA. 351 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CCCCTCAGAGGAAACTCTGGT 0.512000 39 27 0 0 1 0 0 ADAM8 101 broad.mit.edu 37 10 135083963 135083964 + Missense_Mutation DNP CC TT TT TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:135083963_135083964CC>TT uc021qbe.1 - 15 1771_1772 c.1685_1686GG>AA c.(1684-1686)ggg>gAA p.G562E ADAM8_uc009ybi.3_Missense_Mutation_p.G562E|ADAM8_uc010qva.2_Missense_Mutation_p.G523E NM_001109 NP_001100 B4DVM6 B4DVM6_HUMAN Homo sapiens ADAM metallopeptidase domain 8 (ADAM8), transcript variant 1, mRNA. 523 integrin-mediated signaling pathway|proteolysis metalloendopeptidase activity central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2) 17 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05) AGATGGCACGCCCCAGGGGCTG 0.653000 36 25 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98155087 98155087 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:98155087G>A uc001kml.2 - 12 1824 c.1583C>T c.(1582-1584)cCc>cTc p.P528L TLL2_uc009xvf.2_Missense_Mutation_p.P506L NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN Homo sapiens tolloid-like 2 (TLL2), mRNA. 528 CUB 2. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CTCTTCCGTGGGGCCATCCCG 0.512000 50 36 0 0 1 0 0 BCAN 63827 broad.mit.edu 37 1 156618614 156618614 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:156618614C>T uc001fpp.3 + 5 1360 c.1024C>T c.(1024-1026)Ccc>Tcc p.P342S BCAN_uc001fpo.3_Missense_Mutation_p.P342S NM_021948 NP_068767 Q96GW7 PGCB_HUMAN Homo sapiens brevican (BCAN), transcript variant 1, mRNA. 342 Link 2. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GACTGGCTTCCCCAATAAGCA 0.577000 104 68 0 0 1 0 0 MAGEA6 4105 broad.mit.edu 37 X 151870209 151870209 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chrX:151870209C>T uc022chf.1 + 0 899 c.899C>T c.(898-900)tCc>tTc p.S300F MAGEA6_uc004ffq.1_Missense_Mutation_p.S300F|MAGEA6_uc004ffr.1_Missense_Mutation_p.S300F NM_175868 NP_787064 P43360 MAGA6_HUMAN Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA. 300 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CCTCGCATTTCCTACCCACTC 0.562000 8 81 0 0 1 0 0 CLEC3A 10143 broad.mit.edu 37 16 78064586 78064586 + Missense_Mutation SNP G C C TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr16:78064586G>C uc002ffh.4 + 2 523 c.442G>C c.(442-444)Gct>Cct p.A148P CLEC3A_uc021tlr.1_Missense_Mutation_p.A96P NM_005752 NP_005743 O75596 CLC3A_HUMAN Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA. 148 C-type lectin. skeletal system development extracellular region sugar binding NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 18 CAACGGAATCGCTATCTCCTT 0.517000 56 37 0 0 1 0 0 FLJ43860 389690 broad.mit.edu 37 8 142476634 142476634 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr8:142476634G>A uc003ywi.2 - 18 2433 c.2352C>T c.(2350-2352)ctC>ctT p.L784L FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN Homo sapiens FLJ43860 protein (FLJ43860), mRNA. 784 binding all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) AGCACAGGCGGAGGCGGATGG 0.667000 22 12 0 0 1 0 0 ADAM15 8751 broad.mit.edu 37 1 155025185 155025186 + Missense_Mutation DNP CC TT TT TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:155025185_155025186CC>TT uc001fgr.1 + 1 219_220 c.118_119CC>TT c.(118-120)ccg>TTg p.P40L LOC100505666_uc021pam.1_5'Flank|LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_Non-coding_Transcript|ADAM15_uc010pet.1_Nonsense_Mutation_p.R50*|ADAM15_uc010peu.1_Missense_Mutation_p.P57L|ADAM15_uc001fgx.1_Missense_Mutation_p.P40L|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Missense_Mutation_p.P40L|ADAM15_uc001fgs.1_Missense_Mutation_p.P40L|ADAM15_uc010pev.1_Missense_Mutation_p.P50L|ADAM15_uc001fgu.1_Missense_Mutation_p.P40L|ADAM15_uc001fgv.1_Missense_Mutation_p.P40L|ADAM15_uc001fgw.1_Missense_Mutation_p.P40L NM_207197 NP_997080 Q13444 ADA15_HUMAN Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA. 40 angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane SH3 domain binding|metalloendopeptidase activity|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) AGAGAAGGCCCCGAGGGAGCCC 0.579000 OREG0013847 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 4 0 0 1 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41752784 41752784 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr22:41752784C>T uc003azw.3 + 21 2869 c.2653C>T c.(2653-2655)Ccc>Tcc p.P885S NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA. 901 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CTTCCGCTTCCCCATGGGCGA 0.657000 61 42 0 0 1 0 0 LRMP 4033 broad.mit.edu 37 12 25243107 25243107 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr12:25243107C>T uc001rgh.3 + 12 1676 c.582C>T c.(580-582)atC>atT p.I194I LRMP_uc010sja.2_Silent_p.I194I|LRMP_uc010sjc.2_Silent_p.I194I|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Silent_p.I141I|LRMP_uc010sjd.2_Silent_p.I141I NM_006152 NP_006143 Q12912 LRMP_HUMAN Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA. 250 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) AGAAAGAAATCACTAACTGTT 0.403000 29 32 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121340767 121340767 + Missense_Mutation SNP A G G TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:121340767A>G uc001pxx.3 + 1 466 c.337A>G c.(337-339)Aaa>Gaa p.K113E NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 113 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GGCTGGAGAGAAAAGCAACGT 0.522000 44 44 0 0 1 0 0 SLC22A25 387601 broad.mit.edu 37 11 62985192 62985192 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:62985192G>A uc001nwr.1 - 2 522 c.522C>T c.(520-522)ttC>ttT p.F174F SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Silent_p.F174F NM_199352 NP_955384 Q6T423 S22AP_HUMAN Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA. 174 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 ATCTGAGCACGAACTTTCTCC 0.498000 35 18 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189870933 189870933 + Splice_Site SNP G A A rs121912916 TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:189870933G>A uc002uqj.1 + 42 3157 c.3040_splice c.e42-1 p.G1014_splice NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 1014 Triple-helical region. G -> E (in EDS4). axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TTTAATCAGGGAAACCCTGGA 0.388000 24 28 0 0 1 0 0 RAB35 11021 broad.mit.edu 37 12 120534901 120534901 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr12:120534901G>A uc009zww.2 - 6 1055 c.149C>T c.(148-150)tCc>tTc p.S50F RAB35_uc001txm.2_3'UTR|RAB35_uc010szh.2_3'UTR Q15286 RAB35_HUMAN Homo sapiens RAB35, member RAS oncogene family (RAB35), transcript variant 1, mRNA. 0 cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding endometrium(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.248) GGCGGGGGAGGAAGTGCCGAT 0.627000 0 12 0 0 1 0 0 PCDHB17 54661 broad.mit.edu 37 5 140537261 140537261 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:140537261C>T uc003lis.3 + 0 1682 c.1682C>T c.(1681-1683)tCg>tTg p.S561L Homo sapiens protocadherin beta 17 pseudogene (PCDHB17), non-coding RNA. ACTCGCCCTTCGTGCTGTACC 0.711000 36 46 0 0 1 0 0 PRR23A 729627 broad.mit.edu 37 3 138724853 138724853 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:138724853C>T uc011bms.2 - 0 258 c.258G>A c.(256-258)tcG>tcA p.S86S NM_001134659 NP_001128131 A6NEV1 PR23A_HUMAN Homo sapiens proline rich 23A (PRR23A), mRNA. 86 endometrium(3)|kidney(1)|lung(7) 11 CTCGCAGGATCGACGTTGGCG 0.662000 15 6 0 0 1 0 0 BTBD3 22903 broad.mit.edu 37 20 11903859 11903859 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr20:11903859C>T uc002wnz.3 + 3 1473 c.1114C>T c.(1114-1116)Ccc>Tcc p.P372S BTBD3_uc002wny.3_Missense_Mutation_p.P311S|BTBD3_uc002woa.3_Missense_Mutation_p.P311S|BTBD3_uc010zrf.2_Missense_Mutation_p.P221S|BTBD3_uc010zrg.2_Missense_Mutation_p.P221S|BTBD3_uc010zrh.2_Missense_Mutation_p.P221S NM_014962 NP_852108 Q9Y2F9 BTBD3_HUMAN Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA. 372 breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 GGGCCTTGTCCCCCAGCGCTG 0.502000 33 38 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3675435 3675435 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr20:3675435G>A uc002wja.3 - 10 2819 c.2819C>T c.(2818-2820)tCg>tTg p.S940L SIGLEC1_uc002wiz.4_Missense_Mutation_p.S940L|SIGLEC1_uc002wjb.1_5'Flank NM_023068 NP_075556 Q9BZZ2 SN_HUMAN Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA. 940 Ig-like C2-type 9. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GGCCGAGGTCGACTCCTGGAG 0.622000 34 27 0 0 1 0 0 CHI3L2 1117 broad.mit.edu 37 1 111781451 111781451 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:111781451C>T uc001eam.3 + 7 886 c.815C>T c.(814-816)tCc>tTc p.S272F CHI3L2_uc001ean.3_Missense_Mutation_p.S262F|CHI3L2_uc001eao.3_Missense_Mutation_p.S193F NM_004000 NP_001020370 Q15782 CH3L2_HUMAN Homo sapiens chitinase 3-like 2 (CHI3L2), transcript variant 1, mRNA. 272 chitin catabolic process extracellular space cation binding|chitinase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1) 19 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) TATGGGCACTCCTTCACACTG 0.557000 79 61 0 0 1 0 0 PGM2 55276 broad.mit.edu 37 4 37851831 37851831 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr4:37851831C>T uc011byb.1 + 11 1512 c.1439C>T c.(1438-1440)tCc>tTc p.S480F PGM2_uc011byc.1_Missense_Mutation_p.S320F NM_018290 NP_060760 Q96G03 PGM2_HUMAN Homo sapiens phosphoglucomutase 2 (PGM2), mRNA. 480 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 ACTAAAGCTTCCTATTTTATC 0.323000 14 15 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79373405 79373405 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr4:79373405C>T uc003hlb.2 + 46 7100 c.6660C>T c.(6658-6660)acC>acT p.T2220T NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 2219 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 AAATCACCACCCTGCAGCTGT 0.478000 39 35 0 0 1 0 0 FLJ43860 389690 broad.mit.edu 37 8 142506592 142506592 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr8:142506592G>A uc003ywi.2 - 1 171 c.90C>T c.(88-90)ccC>ccT p.P30P FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN Homo sapiens FLJ43860 protein (FLJ43860), mRNA. 30 binding p.P30P(1) all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) TGGAGACAGGGGGGGAGATTC 0.557000 22 25 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195490396 195490396 + Nonsense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:195490396G>A uc021xjp.1 - 11 14317 c.14161C>T c.(14161-14163)Cag>Tag p.Q4721* MUC4_uc003fuz.3_Nonsense_Mutation_p.Q319*|MUC4_uc003fva.3_Nonsense_Mutation_p.Q201*|MUC4_uc003fvb.3_Nonsense_Mutation_p.Q237*|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Nonsense_Mutation_p.Q237*|MUC4_uc010hzr.3_Intron|MUC4_uc021xjm.1_Nonsense_Mutation_p.Q230*|MUC4_uc021xjn.1_Nonsense_Mutation_p.Q410*|MUC4_uc021xjo.1_Nonsense_Mutation_p.Q201*|MUC4_uc021xjg.1_Nonsense_Mutation_p.Q201*|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Nonsense_Mutation_p.Q285*|MUC4_uc021xjj.1_Nonsense_Mutation_p.Q285*|MUC4_uc021xjk.1_Nonsense_Mutation_p.Q462*|MUC4_uc021xjl.1_Nonsense_Mutation_p.Q201*|MUC4_uc003fvo.3_Nonsense_Mutation_p.Q485*|MUC4_uc003fvp.3_Nonsense_Mutation_p.Q434* NM_018406 NP_060876 Q99102 MUC4_HUMAN Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA. 1478 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) GTGCGGCCCTGAAGCAGGAAG 0.642000 8 8 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193061834 193061834 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:193061834C>T uc011bsq.2 - 8 825 c.825G>A c.(823-825)gaG>gaA p.E275E NM_198505 NP_940907 Q4VNC0 AT135_HUMAN Homo sapiens ATPase type 13A5 (ATP13A5), mRNA. 275 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.E274Q(1) NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|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;0.000307) GGGATTCCAGCTCCTCCAAAC 0.418000 16 21 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25399799 25399799 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr13:25399799G>A uc001upr.3 + 15 2175 c.2134G>A c.(2134-2136)Gaa>Aaa p.E712K RNF17_uc010tdd.1_Missense_Mutation_p.E571K|RNF17_uc010tde.2_Missense_Mutation_p.E712K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.E651K NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 712 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) GACAATCGAGGAATTCTATAA 0.353000 49 38 0 0 1 0 0 SLC44A5 204962 broad.mit.edu 37 1 75684184 75684184 + Missense_Mutation SNP C T T rs143004355 byFrequency TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:75684184C>T uc010oqz.1 - 15 1703 c.1637G>A c.(1636-1638)cGa>cAa p.R546Q SLC44A5_uc001dgt.2_Missense_Mutation_p.R507Q|SLC44A5_uc001dgs.2_Missense_Mutation_p.R465Q|SLC44A5_uc001dgr.2_Missense_Mutation_p.R465Q|SLC44A5_uc001dgu.3_Missense_Mutation_p.R507Q|SLC44A5_uc010ora.2_Missense_Mutation_p.R501Q|SLC44A5_uc010orb.2_Missense_Mutation_p.R377Q NM_001130058 NP_001123530 Q8NCS7 CTL5_HUMAN Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA. 507 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 CCGTATGGCTCGTCCAAATGC 0.433000 107 88 0 0 1 0 0 PALB2 79728 broad.mit.edu 37 16 23634434 23634434 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr16:23634434G>A uc002dlx.1 - 8 3052 c.2852C>T c.(2851-2853)tCt>tTt p.S951F NM_024675 NP_078951 Q86YC2 PALB2_HUMAN Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA. 951 Interaction with RAD51 and BRCA2. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) TTCATCATCAGAGGAACAAAA 0.378000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 31 11 0 0 1 0 0 LEPREL1 55214 broad.mit.edu 37 3 189706783 189706783 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:189706783C>T uc011bsk.2 - 3 1256 c.868G>A c.(868-870)Gaa>Aaa p.E290K LEPREL1_uc003fsg.3_Missense_Mutation_p.E109K NM_018192 NP_001127890 Q8IVL5 P3H2_HUMAN Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA. 290 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation Golgi apparatus|basement membrane|endoplasmic reticulum 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 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GTGGCAAGTTCCCTCACACAT 0.507000 39 20 0 0 1 0 0 NCAM1 4684 broad.mit.edu 37 11 113103073 113103073 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:113103073G>A uc021qqp.1 + 11 1866 c.1494G>A c.(1492-1494)ctG>ctA p.L498L NCAM1_uc001pnp.3_Silent_p.L462L|NCAM1_uc021qqo.1_Silent_p.L462L|NCAM1_uc001pnq.3_Silent_p.L472L|NCAM1_uc001pnr.3_Silent_p.L462L NM_001242607 NP_001229536 P13591 NCAM1_HUMAN Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA. 474 Ig-like C2-type 5. axon guidance|interferon-gamma-mediated signaling pathway Golgi membrane|anchored to membrane|extracellular region|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) CCAGCTATCTGGAGGTGAGTC 0.537000 31 27 0 0 1 0 0 PAGE4 9506 broad.mit.edu 37 X 49597218 49597218 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chrX:49597218C>T uc004don.1 + 3 336 c.257C>T c.(256-258)cCa>cTa p.P86L NM_007003 NP_008934 O60829 GAGC1_HUMAN Homo sapiens P antigen family, member 4 (prostate associated) (PAGE4), mRNA. 86 Ovarian(276;0.236) GAGAAGACTCCACCTAATCCT 0.383000 5 36 0 0 1 0 0 SYCP2 10388 broad.mit.edu 37 20 58491601 58491601 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr20:58491601G>A uc002yaz.3 - 6 592 c.453C>T c.(451-453)ttC>ttT p.F151F SYCP2_uc010gju.1_Silent_p.F52F NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA. 151 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) TGCGAGGTACGAAACTTTCCA 0.294000 19 17 0 0 1 0 0 CTTNBP2NL 55917 broad.mit.edu 37 1 112998721 112998721 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:112998721C>T uc001ebx.3 + 5 835 c.607C>T c.(607-609)Ctg>Ttg p.L203L CTTNBP2NL_uc001ebz.3_5'Flank NM_018704 NP_061174 Q9P2B4 CT2NL_HUMAN Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA. 203 actin cytoskeleton protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGCAGGAGAGCTGAGCCTGAA 0.552000 38 28 0 0 1 0 0 CHTF18 63922 broad.mit.edu 37 16 841257 841257 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr16:841257C>T uc002ckf.4 + 6 1138 c.1075C>T c.(1075-1077)Ccg>Tcg p.P359S RPUSD1_uc002ckb.3_5'Flank|CHTF18_uc010uus.1_3'UTR|CHTF18_uc010bre.1_Non-coding_Transcript|CHTF18_uc002cke.4_Missense_Mutation_p.P331S|CHTF18_uc010brf.3_5'UTR|CHTF18_uc002ckg.4_5'UTR NM_022092 NP_071375 Q8WVB6 CTF18_HUMAN Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA. 331 DNA replication|cell cycle nucleus ATP binding|DNA binding|nucleoside-triphosphatase activity endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1) 11 Hepatocellular(780;0.00335) CAGTGTTGAGCCGGCCCGGGT 0.657000 10 4 0 0 1 0 0 OR4K1 79544 broad.mit.edu 37 14 20404268 20404268 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr14:20404268C>T uc001vwj.2 + 0 502 c.443C>T c.(442-444)tCc>tTc p.S148F NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA. 148 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) GTGTCTATTTCCTGGGCGGTG 0.453000 160 34 0 0 1 0 0 KRTAP9-9 81870 broad.mit.edu 37 17 39412102 39412102 + Silent SNP C T T rs7501803 TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr17:39412102C>T uc021txh.1 + 0 467 c.465C>T c.(463-465)ttC>ttT p.F155F NM_030975 NP_112237 B5MDD6 B5MDD6_HUMAN Homo sapiens keratin associated protein 9-9 (KRTAP9-9), mRNA. 155 keratin filament endometrium(3)|skin(2)|upper_aerodigestive_tract(1) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCACTTGCTTCCAGCCCACCT 0.592000 16 80 0 0 1 0 0 TBC1D5 9779 broad.mit.edu 37 3 17226675 17226675 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:17226675G>A uc010hev.3 - 20 2108 c.1844C>T c.(1843-1845)tCc>tTc p.S615F TBC1D5_uc010heu.3_Missense_Mutation_p.S180F|TBC1D5_uc003cbf.3_Missense_Mutation_p.S593F|TBC1D5_uc003cbe.3_Missense_Mutation_p.S593F|TBC1D5_uc010hew.1_Missense_Mutation_p.S567F NM_001134381 NP_001127853 Q92609 TBCD5_HUMAN Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA. 593 intracellular Rab GTPase activator activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 TTGAAGGAAGGAAATTTGGGC 0.368000 39 26 0 0 1 0 0 CHRNG 1146 broad.mit.edu 37 2 233410392 233410392 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:233410392G>A uc002vsx.1 + 11 1541 c.1520G>A c.(1519-1521)gGa>gAa p.G507E CHRNG_uc010fye.1_Missense_Mutation_p.G455E NM_005199 NP_005190 P07510 ACHG_HUMAN Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA. 507 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) CCATTCCCTGGAGATCCACGC 0.612000 39 29 0 0 1 0 0 ZCCHC14 23174 broad.mit.edu 37 16 87445888 87445888 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr16:87445888C>T uc002fjz.1 - 11 2055 c.2028G>A c.(2026-2028)ctG>ctA p.L676L ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Silent_p.L452L NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA. 676 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) TGGCTGTGTACAGAGCAGTCC 0.512000 66 56 0 0 1 0 0 GPR115 221393 broad.mit.edu 37 6 47680330 47680330 + Nonsense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:47680330C>T uc003oyz.1 + 5 709 c.709C>T c.(709-711)Cga>Tga p.R237* GPR115_uc003oza.1_Nonsense_Mutation_p.R180*|GPR115_uc003ozb.1_Nonsense_Mutation_p.R180*|RN7SK_uc021zaf.1_5'Flank NM_153838 NP_722580 Q8IZF3 GP115_HUMAN Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA. 180 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.R180R(1) NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 TAATGTTACTCGAGAGAAAAT 0.274000 21 23 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141799479 141799479 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr7:141799479C>T uc003vwy.3 + 43 5182 c.5128C>T c.(5128-5130)Cat>Tat p.H1710Y NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1710 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CATTAATCTTCATGTCCGTGG 0.498000 36 29 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179586714 179586714 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:179586714C>T uc021vsy.1 - 74 19169 c.18944G>A c.(18943-18945)gGa>gAa p.G6315E TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G2976E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7242 Ig-like 44. 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) TGTATAGTTTCCTCCAGGACG 0.418000 110 81 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123725196 123725196 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr9:123725196C>T uc004bkv.3 - 34 4403 c.4373G>A c.(4372-4374)gGa>gAa p.G1458E NM_001735 NP_001726 P01031 CO5_HUMAN Homo sapiens complement component 5 (C5), mRNA. 1458 G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) AATAACATGTCCATCTTTGAT 0.338000 90 63 0 0 1 0 0 LZTR1 8216 broad.mit.edu 37 22 21350144 21350144 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr22:21350144C>T uc002zto.3 + 16 2155 c.2052C>T c.(2050-2052)atC>atT p.I684I LZTR1_uc002ztn.3_Silent_p.I643I|LZTR1_uc011ahy.2_Silent_p.I665I NM_006767 NP_006758 Q8N653 LZTR1_HUMAN Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA. 684 BTB 2. anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) ACAAGGCTATCCTGGCCGCCC 0.647000 36 34 0 0 1 0 0 ANKRD50 57182 broad.mit.edu 37 4 125592977 125592977 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr4:125592977G>A uc010inw.3 - 3 2493 c.1455C>T c.(1453-1455)tcC>tcT p.S485S ANKRD50_uc011cgo.2_Silent_p.S306S NM_020337 NP_001161354 Q9ULJ7 ANR50_HUMAN Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA. 485 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 AAGTAGAAAGGGAATCTCTGA 0.423000 74 54 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906675 164906676 + Missense_Mutation DNP CC TT TT TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:164906675_164906676CC>TT uc003fej.4 - 1 2387_2388 c.1943_1944GG>AA c.(1942-1944)ggg>gAA p.G648E SLITRK3_uc003fek.3_Missense_Mutation_p.G648E|SLITRK3_uc021xgy.1_Missense_Mutation_p.G648E NM_014926 NP_055741 O94933 SLIK3_HUMAN Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA. 648 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 GCACAGGGCCCCCAGGAGGAGA 0.545000 HNSCC(40;0.11) 21 14 0 0 1 0 0 OR8D2 283160 broad.mit.edu 37 11 124189890 124189890 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:124189890G>A uc010sah.2 - 0 204 c.204C>T c.(202-204)ttC>ttT p.F68F NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA. 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) AGAGATCAATGAAAGACAAAT 0.418000 45 38 0 0 1 0 0 ATF7IP 55729 broad.mit.edu 37 12 14613436 14613436 + Silent SNP A G G TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr12:14613436A>G uc001rbw.3 + 8 2324 c.2166A>G c.(2164-2166)tcA>tcG p.S722S ATF7IP_uc010shs.1_Missense_Mutation_p.N692D|ATF7IP_uc001rbu.3_Silent_p.S722S|ATF7IP_uc001rbv.1_Silent_p.S721S|ATF7IP_uc001rbx.3_Silent_p.S721S|ATF7IP_uc010sht.1_Missense_Mutation_p.N693D|ATF7IP_uc001rby.4_Silent_p.S722S|ATF7IP_uc001rca.3_Silent_p.S722S NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA. 722 Interaction with SETDB1. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 TAGTATCTTCAACCAATCTTG 0.378000 65 35 0 0 1 0 0 FAM59A 64762 broad.mit.edu 37 18 29848706 29848706 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr18:29848706G>A uc002kxl.3 - 5 1815 c.1759C>T c.(1759-1761)Cct>Tct p.P587S FAM59A_uc002kxk.2_Missense_Mutation_p.P586S NM_001242409 NP_001229338 Q9H706 FA59A_HUMAN Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA. 587 endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 36 CTTTCAGAAGGATTTGTGTCA 0.408000 77 4 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128134804 128134804 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:128134804G>A uc011ebt.2 - 3 1131 c.982C>T c.(982-984)Cct>Tct p.P328S THEMIS_uc010kfa.3_Missense_Mutation_p.P231S|THEMIS_uc021zfa.1_Missense_Mutation_p.P328S|THEMIS_uc010kfb.3_Missense_Mutation_p.P293S NM_001164685 NP_001158157 Q8N1K5 THMS1_HUMAN Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA. 328 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 TGTCTTTTAGGAAAATTGCTT 0.458000 51 47 0 0 1 0 0 PLA1A 51365 broad.mit.edu 37 3 119325752 119325752 + Missense_Mutation SNP G A A rs148143400 TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:119325752G>A uc003ecu.3 + 1 271 c.205G>A c.(205-207)Gga>Aga p.G69R PLA1A_uc003ecv.3_Missense_Mutation_p.G69R|PLA1A_uc011bjc.2_Intron|PLA1A_uc003ecw.3_Non-coding_Transcript NM_015900 NP_001193890 Q53H76 PLA1A_HUMAN Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA. 69 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GCTAGTAGAAGGAAGCAGTGA 0.483000 89 69 0 0 1 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369799 86369799 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr13:86369799G>A uc001vll.1 - 1 1304 c.845C>T c.(844-846)tCa>tTa p.S282L SLITRK6_uc021rla.1_Missense_Mutation_p.S282L NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA. 282 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) CAGATGTAATGATCCTGAAGG 0.408000 65 52 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86316997 86316997 + Missense_Mutation SNP T C C TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:86316997T>C uc002sqs.3 - 3 867 c.488A>G c.(487-489)cAa>cGa p.Q163R NM_015425 NP_056240 O95602 RPA1_HUMAN Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA. 163 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 AGTTGTGTATTGTTCTAATTC 0.438000 31 30 0 0 1 0 0 SEPT2 4735 broad.mit.edu 37 2 242289490 242289490 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:242289490C>T uc002wbh.3 + 15 1479 c.1017C>T c.(1015-1017)ctC>ctT p.L339L SEPT2_uc002wbc.3_Silent_p.L329L|SEPT2_uc002wbd.3_Silent_p.L329L|SEPT2_uc002wbf.3_Silent_p.L329L|SEPT2_uc002wbg.3_Silent_p.L329L|SEPT2_uc010zop.2_Silent_p.L364L NM_006155 NP_006146 Q15019 SEPT2_HUMAN Homo sapiens septin 2 (SEPT2), transcript variant 2, mRNA. 329 cell division|mitosis actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle GTP binding central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) GTTCACAGCTCCGCCGCATGC 0.502000 20 12 0 0 1 0 0 CATSPER3 347732 broad.mit.edu 37 5 134343808 134343808 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:134343808C>T uc003lag.3 + 3 740 c.654C>T c.(652-654)ttC>ttT p.F218F NM_178019 NP_821138 Q86XQ3 CTSR3_HUMAN Homo sapiens cation channel, sperm associated 3 (CATSPER3), mRNA. 218 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CAGCTTTTTTCACCCTCTTCA 0.542000 33 32 0 0 1 0 0 OR9Q2 219957 broad.mit.edu 37 11 57958817 57958817 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:57958817G>A uc010rka.2 + 0 912 c.855G>A c.(853-855)ctG>ctA p.L285L NM_001005283 NP_001005283 Q8NGE9 OR9Q2_HUMAN Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA. 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Breast(21;0.0589) CCCCAATGCTGAATCCCCTTA 0.522000 33 43 0 0 1 0 0 CA6 765 broad.mit.edu 37 1 9009479 9009479 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:9009479C>T uc001apm.3 + 1 261 c.237C>T c.(235-237)ccC>ccT p.P79P CA6_uc021ofu.1_Non-coding_Transcript|CA6_uc009vmn.3_Intron NM_001215 NP_001206 P23280 CAH6_HUMAN Homo sapiens carbonic anhydrase VI (CA6), mRNA. 79 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5) 16 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) GGGAGTTCCCCATGGTCAACA 0.592000 20 21 0 0 1 0 0 PKD2L1 9033 broad.mit.edu 37 10 102057344 102057344 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:102057344C>T uc001kqx.1 - 4 1134 c.751G>A c.(751-753)Gat>Aat p.D251N PKD2L1_uc009xwm.1_Missense_Mutation_p.D204N NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA. 251 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) CCCAACTCATCCTGCGAGTGG 0.567000 19 13 0 0 1 0 0 AQP12A 375318 broad.mit.edu 37 2 241631368 241631368 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:241631368C>T uc002vzu.3 + 0 107 c.38C>T c.(37-39)gCc>gTc p.A13V AQP12A_uc002vzv.3_Intron NM_198998 NP_945349 Q8IXF9 AQ12A_HUMAN Homo sapiens aquaporin 12A (AQP12A), mRNA. 13 integral to membrane transporter activity endometrium(2)|kidney(3)|large_intestine(2)|lung(7) 14 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) TTCTTCTTTGCCACCTTCGCC 0.682000 85 20 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 72967929 72967929 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:72967929C>T uc003pga.3 + 16 2949 c.2872C>T c.(2872-2874)Cgc>Tgc p.R958C RIMS1_uc011dyb.2_Missense_Mutation_p.R583C|RIMS1_uc003pgc.3_Missense_Mutation_p.R584C|RIMS1_uc010kaq.3_Missense_Mutation_p.R431C|RIMS1_uc011dyc.2_Missense_Mutation_p.R432C|RIMS1_uc010kar.3_Missense_Mutation_p.R351C|RIMS1_uc011dyd.2_Missense_Mutation_p.R417C|RIMS1_uc003pge.3_Missense_Mutation_p.R175C|RIMS1_uc003pgf.3_Missense_Mutation_p.R174C|RIMS1_uc003pgi.3_Missense_Mutation_p.R174C|RIMS1_uc003pgg.3_Missense_Mutation_p.R175C|RIMS1_uc003pgh.3_Missense_Mutation_p.R174C|RIMS1_uc003pgd.3_Missense_Mutation_p.R175C|RIMS1_uc011dye.2_5'UTR|RIMS1_uc011dyf.2_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.R584C|RIMS1_uc010kas.1_Missense_Mutation_p.R417C NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA. 958 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) ATCTCCTCATCGCGGCAATGA 0.448000 15 13 0 0 1 0 0 FMN1 342184 broad.mit.edu 37 15 33357275 33357275 + Splice_Site SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr15:33357275G>A uc001zhf.4 - 2 1375 c.1375_splice c.e2-1 p.P459_splice FMN1_uc001zhg.2_Splice_Site_p.P459_splice NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN Homo sapiens formin 1 (FMN1), mRNA. 682 Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CTGTGGTCAGGCTGTTGAAAG 0.443000 52 35 0 0 1 0 0 ITIH5 80760 broad.mit.edu 37 10 7621822 7621822 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:7621822G>A uc021pmv.1 - 8 1420 c.1314C>T c.(1312-1314)atC>atT p.I438I ITIH5_uc021pmu.1_Silent_p.I224I|ITIH5_uc001ijr.2_Silent_p.I438I NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA. 438 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 CGTCGTTGCCGATGCCAATGG 0.632000 51 50 0 0 1 0 0 SSRP1 6749 broad.mit.edu 37 11 57095270 57095270 + Missense_Mutation SNP C G G TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:57095270C>G uc001njt.3 - 13 1965 c.1698G>C c.(1696-1698)aaG>aaC p.K566N TNKS1BP1_uc001njs.3_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank NM_003146 NP_003137 Q08945 SSRP1_HUMAN Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA. 566 DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4) 23 GATGGTCTGACTTGATCTTCT 0.522000 67 58 0 0 1 0 0 RFX6 222546 broad.mit.edu 37 6 117243293 117243293 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:117243293G>A uc003pxm.3 + 12 1479 c.1416G>A c.(1414-1416)gtG>gtA p.V472V NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN Homo sapiens regulatory factor X, 6 (RFX6), mRNA. 472 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TGGATACTGTGGTAGAACAGA 0.368000 39 24 0 0 1 0 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26232187 26232187 + Silent SNP A G G TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr7:26232187A>G uc003sxr.4 - 10 1227 c.1011T>C c.(1009-1011)ggT>ggC p.G337G HNRNPA2B1_uc003sxs.4_Silent_p.G325G NM_031243 NP_112533 P22626 ROA2_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein A2/B1 (HNRNPA2B1), transcript variant B1, mRNA. 337 Gly-rich.|Nuclear targeting sequence (By similarity). RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm RNA binding|nucleotide binding|protein binding|single-stranded telomeric DNA binding HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 TGCCTCCTGGACCATAGTTTC 0.403000 T ETV1 prostate 87 55 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21975472 21975472 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:21975472C>T uc010iuc.2 - 2 712 c.254G>A c.(253-255)gGa>gAa p.G85E CDH12_uc011cno.1_Missense_Mutation_p.G85E|CDH12_uc003jgk.2_Missense_Mutation_p.G85E NM_004061 NP_004052 P55289 CAD12_HUMAN Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA. 85 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 AGTGCCCTCTCCCTTGTCTAA 0.463000 HNSCC(59;0.17) 40 41 0 0 1 0 0 ELOVL7 79993 broad.mit.edu 37 5 60050595 60050595 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:60050595C>T uc003jsi.4 - 8 902 c.702G>A c.(700-702)caG>caA p.Q234Q ELOVL7_uc011cqo.2_Silent_p.Q147Q|ELOVL7_uc010iwk.3_Silent_p.Q234Q|ELOVL7_uc003jsj.4_Silent_p.Q221Q NM_024930 NP_079206 A1L3X0 ELOV7_HUMAN Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA. 234 fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 9 Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481) AGACTGGAAACTGATACTTGC 0.393000 31 22 0 0 1 0 0 LRRN3 54674 broad.mit.edu 37 7 110764029 110764029 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr7:110764029G>A uc003vft.4 + 3 2247 c.1201G>A c.(1201-1203)Gaa>Aaa p.E401K IMMP2L_uc003vfq.2_Intron|IMMP2L_uc010ljr.2_Intron|IMMP2L_uc003vfr.3_Intron|LRRN3_uc003vfu.4_Missense_Mutation_p.E401K|LRRN3_uc003vfs.4_Missense_Mutation_p.E401K|LRRN3_uc022akc.1_Missense_Mutation_p.E401K NM_001099660 NP_060804 Q9H3W5 LRRN3_HUMAN Homo sapiens leucine rich repeat neuronal 3 (LRRN3), transcript variant 1, mRNA. 401 LRRCT. integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) GGACCCACCTGAATTCCAAGG 0.443000 37 37 0 0 1 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110030200 110030200 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:110030200C>T uc010rwc.2 + 3 1136 c.1136C>T c.(1135-1137)tCa>tTa p.S379L ZC3H12C_uc009yxw.3_Missense_Mutation_p.S378L|ZC3H12C_uc010rwd.2_Missense_Mutation_p.S379L|ZC3H12C_uc001pkr.4_Missense_Mutation_p.S347L|ZC3H12C_uc001pkq.2_Missense_Mutation_p.S347L NM_033390 NP_203748 Q9C0D7 ZC12C_HUMAN Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA. 378 endonuclease activity|nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) TTAATGTATTCATTTGTCAAT 0.368000 6 9 0 0 1 0 0 SLC15A1 6564 broad.mit.edu 37 13 99338451 99338451 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr13:99338451C>T uc001vno.3 - 21 2005 c.1928G>A c.(1927-1929)aGc>aAc p.S643N NM_005073 NP_005064 P46059 S15A1_HUMAN Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA. 643 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) TACCTGTTTGCTGAACTGGCC 0.552000 6 10 0 0 1 0 0 SBF1 6305 broad.mit.edu 37 22 50898062 50898062 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr22:50898062G>A uc003blh.3 - 26 3720 c.3525C>T c.(3523-3525)gtC>gtT p.V1175V SBF1_uc011arx.2_Silent_p.V839V NM_002972 NP_002963 O95248 MTMR5_HUMAN Homo sapiens SET binding factor 1 (SBF1), mRNA. 1175 Myotubularin phosphatase. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CGTTGTCCTGGACACTCTGGG 0.701000 10 12 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56246910 56246910 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr18:56246910G>A uc002lhj.4 - 3 1312 c.1098C>T c.(1096-1098)ttC>ttT p.F366F NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 366 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 AATGCTCACCGAATTCCATCT 0.512000 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 54 43 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19475128 19475128 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr16:19475128G>A uc002dgc.4 + 7 2016 c.1267G>A c.(1267-1269)Gaa>Aaa p.E423K TMC5_uc010vaq.2_Missense_Mutation_p.E423K|TMC5_uc002dgb.4_Missense_Mutation_p.E423K|TMC5_uc010var.2_Missense_Mutation_p.E423K|TMC5_uc002dgd.1_Missense_Mutation_p.E177K|TMC5_uc002dge.4_Missense_Mutation_p.E177K|TMC5_uc002dgf.4_Missense_Mutation_p.E106K|TMC5_uc002dgg.4_Missense_Mutation_p.E64K NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 423 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CAGCCTGTCGGAAATTCTGAA 0.478000 37 35 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41199939 41199939 + Missense_Mutation SNP G C C TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:41199939G>C uc003jmk.2 - 3 586 c.376C>G c.(376-378)Cca>Gca p.P126A C6_uc003jml.1_Missense_Mutation_p.P126A NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 126 TSP type-1 2. 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) GGAATGCATGGTTGAAAGGCT 0.438000 68 54 0 0 1 0 0 GDPD5 81544 broad.mit.edu 37 11 75160976 75160976 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:75160976G>A uc001owo.4 - 7 965 c.428C>T c.(427-429)gCc>gTc p.A143V GDPD5_uc001owp.4_Missense_Mutation_p.A143V|GDPD5_uc001own.4_5'UTR|GDPD5_uc009yuc.3_Missense_Mutation_p.A5V|GDPD5_uc009yud.3_Intron|GDPD5_uc009yue.1_Intron NM_030792 NP_110419 Q8WTR4 GDPD5_HUMAN Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA. 143 glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2) 20 CCACAGCTGGGCCACGGCCGA 0.647000 28 17 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233160982 233160982 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:233160982G>A uc001hvl.2 - 25 4750 c.4515C>T c.(4513-4515)atC>atT p.I1505I PCNXL2_uc001hvk.1_Silent_p.I157I|PCNXL2_uc001hvm.1_Intron NM_014801 NP_055616 A6NKB5 PCX2_HUMAN Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA. 1505 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) AGCCCTCCAGGATGTACTGGG 0.577000 OREG0014326 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 54 49 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53038693 53038693 + Nonsense_Mutation SNP C A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr8:53038693C>A uc003xqz.2 - 17 2830 c.2674G>T c.(2674-2676)Gga>Tga p.G892* ST18_uc011ldq.1_Nonsense_Mutation_p.G539*|ST18_uc011ldr.1_Nonsense_Mutation_p.G857*|ST18_uc011lds.1_Nonsense_Mutation_p.G797*|ST18_uc003xra.2_Nonsense_Mutation_p.G892* NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 892 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) AGAGGACATCCAGATAAGCTG 0.348000 62 4 0.150653 0.150653 1 1 0 DDC 1644 broad.mit.edu 37 7 50566849 50566849 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr7:50566849C>T uc003tpg.4 - 7 1074 c.873G>A c.(871-873)gtG>gtA p.V291V DDC_uc022ade.1_Silent_p.V213V|DDC_uc003tpf.4_Silent_p.V291V|DDC_uc022adb.1_Silent_p.V253V|DDC_uc022adc.1_Silent_p.V243V|DDC_uc022add.1_Silent_p.V198V|DDC_uc022adf.1_Silent_p.V291V NM_001082971 NP_001076440 P20711 DDC_HUMAN Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA. 291 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) CACCTACCTCCACTCCATTCA 0.522000 24 17 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 73014888 73014888 + Splice_Site SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr12:73014888G>A uc001sxa.3 + 14 2365 c.2335_splice c.e14-1 p.E779_splice NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA. 779 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding 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 CCCCATTTAGGAATATATTTT 0.279000 25 16 0 0 1 0 0 LOC390660 390660 broad.mit.edu 37 15 82620524 82620524 + RNA SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr15:82620524G>A uc021ssl.1 + 18 c.4004G>A LOC390660_uc010bls.1_Non-coding_Transcript Homo sapiens FLJ00317 protein (LOC390660), non-coding RNA. CAGCCTGGCTGAAGCGGGGCC 0.677000 10 6 0 0 1 0 0 KIAA0240 23506 broad.mit.edu 37 6 42832438 42832438 + Missense_Mutation SNP A G G TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:42832438A>G uc003osn.1 + 12 2645 c.2494A>G c.(2494-2496)Aaa>Gaa p.K832E KIAA0240_uc011duw.1_Missense_Mutation_p.K832E|KIAA0240_uc003osp.1_Missense_Mutation_p.K832E NM_015349 NP_056164 Q6AI39 K0240_HUMAN Homo sapiens KIAA0240 (KIAA0240), mRNA. 832 NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3) 44 Colorectal(47;0.196) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104) CAAACTTGATAAAGCTGCTCA 0.498000 63 44 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55534816 55534816 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr8:55534816C>T uc003xsd.1 + 2 903 c.755C>T c.(754-756)cCc>cTc p.P252L RP1_uc011ldy.1_Missense_Mutation_p.P252L NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 252 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) CGTGTGTACCCCAAGGGAAAT 0.428000 39 24 0 0 1 0 0 PRSS58 136541 broad.mit.edu 37 7 141954930 141954930 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr7:141954930G>A uc003vxb.3 - 2 701 c.381C>T c.(379-381)atC>atT p.I127I PRSS58_uc003vxc.4_Silent_p.I127I NM_001001317 NP_001001317 Q8IYP2 PRS58_HUMAN Homo sapiens protease, serine, 58 (PRSS58), mRNA. 127 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 TATTTTCAGAGATAGTTTGGT 0.403000 95 63 0 0 1 0 0 DYRK1A 1859 broad.mit.edu 37 21 38862574 38862574 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr21:38862574C>T uc002ywk.3 + 5 838 c.762C>T c.(760-762)ttC>ttT p.F254F DYRK1A_uc002ywi.3_Silent_p.F254F|DYRK1A_uc002ywj.3_Silent_p.F245F|DYRK1A_uc002ywm.3_Silent_p.F254F|DYRK1A_uc011aei.2_Silent_p.F15F NM_001396 NP_001387 Q13627 DYR1A_HUMAN Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA. 254 Protein kinase. nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 ACACCAATTTCCGAGGGGTCT 0.428000 41 34 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104126945 104126945 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr12:104126945G>A uc001tjw.3 + 50 5631 c.5445G>A c.(5443-5445)gtG>gtA p.V1815V STAB2_uc009zug.3_Non-coding_Transcript NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 1815 FAS1 6. 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 AGTTTCATGTGATACGAGATG 0.468000 12 67 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53076606 53076606 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr8:53076606G>A uc003xqz.2 - 7 1496 c.1340C>T c.(1339-1341)tCc>tTc p.S447F ST18_uc011ldq.1_Missense_Mutation_p.S94F|ST18_uc011ldr.1_Missense_Mutation_p.S412F|ST18_uc011lds.1_Missense_Mutation_p.S352F|ST18_uc003xra.2_Missense_Mutation_p.S447F|ST18_uc003xrb.2_Missense_Mutation_p.S447F NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 447 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TTTATCCTGGGACATTGCCAA 0.413000 36 41 0 0 1 0 0 WWC1 23286 broad.mit.edu 37 5 167894950 167894950 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:167894950C>T uc003lzu.3 + 21 3349 c.3256C>T c.(3256-3258)Cca>Tca p.P1086S WWC1_uc003lzv.3_Missense_Mutation_p.P1091S|WWC1_uc011den.2_Missense_Mutation_p.P1092S|WWC1_uc003lzw.3_Missense_Mutation_p.P884S|WWC1_uc010jjf.1_Missense_Mutation_p.P358S NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA. 1086 Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) TAAGGAACCCCCAGAAGTTCA 0.587000 46 17 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26315366 26315366 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:26315366C>T uc001isn.2 + 9 1218 c.858C>T c.(856-858)ttC>ttT p.F286F MYO3A_uc009xko.1_Silent_p.F286F|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Silent_p.F286F NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN Homo sapiens myosin IIIA (MYO3A), mRNA. 286 Protein kinase. 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 AGCATAAATTCATTACTCAAA 0.378000 23 9 0 0 1 0 0 UGT2B15 7366 broad.mit.edu 37 4 69512998 69512998 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr4:69512998C>T uc021xow.1 - 5 1575 c.1417G>A c.(1417-1419)Gga>Aga p.G473R NM_001076 NP_001067 P54855 UDB15_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA. 473 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity TGCTTGGCTCCTTTGTGGCGC 0.483000 81 61 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92760908 92760908 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr7:92760908G>A uc003umh.1 - 4 5593 c.4377C>T c.(4375-4377)ttC>ttT p.F1459F SAMD9L_uc003umj.1_Silent_p.F1459F|SAMD9L_uc003umi.1_Silent_p.F1459F|SAMD9L_uc010lfb.1_Silent_p.F1459F|SAMD9L_uc003umk.1_Silent_p.F1459F|SAMD9L_uc010lfc.1_Silent_p.F1459F|SAMD9L_uc010lfd.1_Silent_p.F1459F|SAMD9L_uc022ahh.1_Silent_p.F1459F NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 1459 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) ACTGTCCCCTGAAGGATCTAT 0.428000 90 86 0 0 1 0 0 SGCG 6445 broad.mit.edu 37 13 23853608 23853608 + Nonsense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr13:23853608C>T uc001uom.2 + 4 651 c.496C>T c.(496-498)Cga>Tga p.R166* SGCG_uc009zzv.2_Nonsense_Mutation_p.R166*|SGCG_uc009zzw.2_Nonsense_Mutation_p.R166* NM_000231 NP_000222 Q13326 SGCG_HUMAN Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA. 166 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188) all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205) AGATAAACTTCGAGTAACTGG 0.388000 18 10 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481936 140481936 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:140481936G>A uc003lio.3 + 0 1703 c.1703G>A c.(1702-1704)gGc>gAc p.G568D BC016751_uc003lin.3_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. 568 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGCAGAACGGCTCCGCGCCC 0.716000 63 40 0 0 1 0 0 WFS1 7466 broad.mit.edu 37 4 6304153 6304153 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr4:6304153C>T uc003giy.3 + 7 2797 c.2631C>T c.(2629-2631)ttC>ttT p.F877F WFS1_uc003gix.3_Silent_p.F877F|WFS1_uc003giz.3_Silent_p.F695F NM_001145853 NP_005996 O76024 WFS1_HUMAN Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA. 877 Poly-Phe. ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) CCGTGAAGTTCGCCTTCGACT 0.612000 13 19 0 0 1 0 0 FAM151A 338094 broad.mit.edu 37 1 55076196 55076196 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:55076196C>T uc001cxn.3 - 6 1105 c.973G>A c.(973-975)Gga>Aga p.G325R ACOT11_uc001cxm.2_Intron NM_176782 NP_788954 Q8WW52 F151A_HUMAN Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA. 325 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 AGGCTGCCTCCCGTGTAGTAC 0.562000 50 36 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179701852 179701852 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:179701852G>A uc002une.2 - 22 4212 c.4094C>T c.(4093-4095)tCc>tTc p.S1365F CCDC141_uc002unf.1_Missense_Mutation_p.S844F NM_173648 NP_775919 Q6ZP82 CC141_HUMAN Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA. 790 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TGCATCAGAGGAAGCATGCAG 0.483000 29 23 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147092545 147092545 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:147092545C>T uc001epq.3 + 7 3324 c.2584C>T c.(2584-2586)Cct>Tct p.P862S BCL9_uc010ozr.1_Missense_Mutation_p.P788S NM_004326 NP_004317 O00512 BCL9_HUMAN Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA. 862 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) AGGCATTAACCCTCTGAAGTC 0.617000 T """IGH@, IGL@""" B-ALL 48 46 0 0 1 0 0 ANAPC1 64682 broad.mit.edu 37 2 112620143 112620143 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:112620143G>A uc002thi.3 - 9 1332 c.1085C>T c.(1084-1086)tCt>tTt p.S362F NM_022662 NP_073153 Q9H1A4 APC1_HUMAN Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA. 362 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 CCCTGAAAAAGAGTGCACTCC 0.413000 10 6 0 0 1 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52132701 52132701 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:52132701G>A uc002pxe.3 - 2 749 c.610C>T c.(610-612)Ccc>Tcc p.P204S NM_003830 NP_003821 O15389 SIGL5_HUMAN Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA. 204 Ig-like C2-type 1. 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) TGGTCCTCGGGCCTGGGGGTG 0.627000 30 24 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166929186 166929186 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr4:166929186G>A uc003irh.2 + 6 1550 c.903G>A c.(901-903)agG>agA p.R301R TLL1_uc021xud.1_Silent_p.R301R|TLL1_uc011cjn.2_Silent_p.R301R|TLL1_uc011cjo.2_Silent_p.R125R NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 301 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) ACTATGCCAGGAACACCTTCT 0.418000 39 25 0 0 1 0 0 ATP9A 10079 broad.mit.edu 37 20 50238709 50238709 + Silent SNP A G G TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr20:50238709A>G uc002xwg.1 - 18 2019 c.2019T>C c.(2017-2019)gtT>gtC p.V673V ATP9A_uc010gih.1_Silent_p.V537V|ATP9A_uc002xwf.1_Intron NM_006045 NP_006036 O75110 ATP9A_HUMAN Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA. 673 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TCAGCATCCAAACCTGAAATC 0.498000 43 25 0 0 1 0 0 SRSF1 6426 broad.mit.edu 37 17 56082949 56082949 + Missense_Mutation SNP A G G TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr17:56082949A>G uc002ivi.3 - 3 774 c.565T>C c.(565-567)Tac>Cac p.Y189H SRSF1_uc002ivj.3_3'UTR NM_006924 NP_008855 Q07955 SRSF1_HUMAN Homo sapiens serine/arginine-rich splicing factor 1 (SRSF1), transcript variant 1, mRNA. 189 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding|nucleotide binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ACCCGGATGTAGGCAGTTTCT 0.433000 5 61 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55655605 55655605 + Missense_Mutation SNP G A A rs146327492 TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:55655605G>A uc010rip.2 + 3 697 c.605G>A c.(604-606)cGa>cAa p.R202Q TRIM51_uc010riq.2_Missense_Mutation_p.R59Q NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA. 202 intracellular zinc ion binding GAAAGGCTGCGAAAGGAGGGC 0.428000 43 24 0 0 1 0 0 GUCA1C 9626 broad.mit.edu 37 3 108672412 108672412 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:108672412C>T uc003dxj.2 - 0 266 c.198G>A c.(196-198)acG>acA p.T66T GUCA1C_uc003dxk.2_Silent_p.T66T NM_005459 NP_005450 O95843 GUC1C_HUMAN Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA. 66 EF-hand 2. signal transduction|visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1) 14 TTACCTTGTTCGTGTCAAAGG 0.333000 41 40 0 0 1 0 0 ZNF428 126299 broad.mit.edu 37 19 44111830 44111830 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:44111830G>A uc002oxa.3 - 2 941 c.506C>T c.(505-507)tCc>tTc p.S169F SRRM5_uc002oxb.2_Intron NM_182498 NP_872304 Q96B54 ZN428_HUMAN Homo sapiens zinc finger protein 428 (ZNF428), mRNA. 169 intracellular zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 5 Prostate(69;0.0153) GTTGTCGAAGGAATCCTCACA 0.652000 22 13 0 0 1 0 0 CLVS2 134829 broad.mit.edu 37 6 123319270 123319270 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:123319270G>A uc003pzi.1 + 1 1217 c.348G>A c.(346-348)agG>agA p.R116R NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN Homo sapiens clavesin 2 (CLVS2), mRNA. 116 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 ACTATGGCAGGAAGATTCTAG 0.478000 47 27 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166868757 166868757 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:166868757C>T uc002udo.4 - 20 3968 c.3741G>A c.(3739-3741)acG>acA p.T1247T SCN1A_uc010fpk.3_Silent_p.T1219T|SCN1A_uc021vsb.1_Silent_p.T1236T NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 1247 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) TCGTCTTAATCGTCTTTCGCT 0.294000 23 22 0 0 1 0 0 GBP4 115361 broad.mit.edu 37 1 89652762 89652762 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:89652762G>A uc001dnb.3 - 8 1550 c.1434C>T c.(1432-1434)ttC>ttT p.F478F NM_052941 NP_443173 Q96PP9 GBP4_HUMAN Homo sapiens guanylate binding protein 4 (GBP4), mRNA. 478 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) GTGACTGCAGGAAGTTCTGGA 0.507000 42 29 0 0 1 0 0 FNDC9 408263 broad.mit.edu 37 5 156770374 156770374 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:156770374C>T uc003lwu.2 - 1 359 c.171G>A c.(169-171)acG>acA p.T57T CYFIP2_uc021ygm.1_Intron|CYFIP2_uc011ddn.2_Intron|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Intron|CYFIP2_uc021ygo.1_Intron|CYFIP2_uc003lwt.3_Intron|CYFIP2_uc011ddp.2_Intron|FNDC9_uc021ygp.1_Silent_p.T57T NM_001001343 NP_001001343 Q8TBE3 FNDC9_HUMAN Homo sapiens fibronectin type III domain containing 9 (FNDC9), mRNA. 57 Fibronectin type-III. integral to membrane p.R56*(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 9 CGGAGCTGATCGTTCGAGGCA 0.522000 52 32 0 0 1 0 0 OR2D2 120776 broad.mit.edu 37 11 6913594 6913594 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:6913594G>A uc010rau.2 - 0 138 c.138C>T c.(136-138)atC>atT p.I46I NM_003700 NP_003691 Q9H210 OR2D2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA. 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GAACAAGGGAGATTAGAAGCA 0.463000 5 30 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157514862 157514862 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:157514862G>A uc009wsm.3 - 3 476 c.318C>T c.(316-318)atC>atT p.I106I FCRL5_uc001fqu.3_Silent_p.I106I|FCRL5_uc010phv.1_Silent_p.I106I|FCRL5_uc010phw.1_Silent_p.I21I|FCRL5_uc001fqv.1_Silent_p.I106I|FCRL5_uc010phx.2_5'UTR NM_001195388 NP_001182317 Q96RD9 FCRL5_HUMAN Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA. 106 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) GAGCTTGCAGGATCAGCGAAG 0.373000 37 37 0 0 1 0 0 GFRA3 2676 broad.mit.edu 37 5 137593547 137593547 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:137593547G>A uc003lcn.3 - 3 706 c.566C>T c.(565-567)cCc>cTc p.P189L GFRA3_uc003lco.3_Missense_Mutation_p.P158L NM_001496 NP_001487 O60609 GFRA3_HUMAN Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA. 189 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CTGGCAGTGGGGCCCGGAGCA 0.657000 20 26 0 0 1 0 0 TRIM10 10107 broad.mit.edu 37 6 30122210 30122210 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:30122210C>T uc003npo.3 - 6 1058 c.982G>A c.(982-984)Gac>Aac p.D328N TRIM10_uc003npn.2_Missense_Mutation_p.D328N NM_006778 NP_006769 Q9UDY6 TRI10_HUMAN Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA. 328 B30.2/SPRY. cytoplasm zinc ion binding ovary(1) 1 CGCTGGTGGTCCTCGGACAAG 0.542000 96 23 0 0 1 0 0 CD97 976 broad.mit.edu 37 19 14507996 14507996 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:14507996C>T uc002myl.3 + 5 966 c.586C>T c.(586-588)Ccg>Tcg p.P196S CD97_uc002mym.3_Intron|CD97_uc002myn.3_Intron NM_078481 NP_510966 P48960 CD97_HUMAN Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA. 196 EGF-like 4; calcium-binding (Potential). cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 GCAACCGATTCCGGGGTCCCC 0.587000 71 59 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576247 33576247 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:33576247G>A uc003jia.1 - 18 4047 c.3884C>T c.(3883-3885)aCt>aTt p.T1295I ADAMTS12_uc010iuq.1_Missense_Mutation_p.T1210I NM_030955 NP_112217 P58397 ATS12_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA. 1295 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 AAAGCCCTCAGTAATCAGACT 0.473000 HNSCC(64;0.19) 110 95 0 0 1 0 0 EAPP 55837 broad.mit.edu 37 14 35002670 35002670 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr14:35002670G>A uc001wsd.1 - 2 441 c.332C>T c.(331-333)tCc>tTc p.S111F NM_018453 NP_060923 Q56P03 EAPP_HUMAN Homo sapiens E2F-associated phosphoprotein (EAPP), mRNA. 111 negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter Golgi apparatus|nucleus|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 12 Breast(36;0.0473)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18) GBM - Glioblastoma multiforme(112;0.0196) TTCATCCTCGGAATCAGAATC 0.338000 49 40 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38573548 38573548 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:38573548C>T uc002ohk.3 + 2 1852 c.1343C>T c.(1342-1344)tCc>tTc p.S448F NM_015073 NP_055888 O60292 SI1L3_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA. 448 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TCCCGGGCTTCCGTGGGCTCC 0.667000 36 24 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35583897 35583897 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr8:35583897C>T uc003xjr.2 + 9 1859 c.1531C>T c.(1531-1533)Ccc>Tcc p.P511S UNC5D_uc003xjs.2_Missense_Mutation_p.P506S|UNC5D_uc003xju.2_Missense_Mutation_p.P87S|UNC5D_uc003xjt.1_Missense_Mutation_p.P269S NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA. 511 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CAGGACTTTTCCCCATGGAAA 0.468000 47 26 0 0 1 0 0 HSPA13 6782 broad.mit.edu 37 21 15747975 15747975 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr21:15747975G>A uc002yjt.3 - 3 815 c.746C>T c.(745-747)tCt>tTt p.S249F HSPA13_uc011abx.2_Missense_Mutation_p.S41F NM_006948 NP_008879 P48723 HSP13_HUMAN Homo sapiens heat shock protein 70kDa family, member 13 (HSPA13), mRNA. 249 endoplasmic reticulum|microsome ATP binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 TTTCTTACCAGACATTGCTCG 0.537000 43 30 0 0 1 0 0 SMARCA1 6594 broad.mit.edu 37 X 128649886 128649886 + Nonsense_Mutation SNP C A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chrX:128649886C>A uc011muk.1 - 3 627 c.514G>T c.(514-516)Gag>Tag p.E172* SMARCA1_uc004eun.4_Nonsense_Mutation_p.E172*|SMARCA1_uc004eup.4_Nonsense_Mutation_p.E172*|SMARCA1_uc011mul.1_Nonsense_Mutation_p.E172*|SNORD112_uc022cdt.1_5'Flank NM_003069 NP_003060 P28370 SMCA1_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA. 172 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding p.F171L(1) biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 GGTGACACCTCAAATCTAATA 0.343000 4 45 4.01765e-15 4.07532e-15 1 1 0 OR51D1 390038 broad.mit.edu 37 11 4661314 4661314 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:4661314C>T uc010qyk.2 + 0 370 c.294C>T c.(292-294)ttC>ttT p.F98F NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA. 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) CCAGTCTTTTCCTGATGGGCA 0.542000 24 3 0 0 1 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117029 117029 + RNA SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chrGL000205.1:117029G>A uc002kgk.4 + 0 c.407G>A Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. CCCTTAAAAAGACGGACAACC 0.458000 28 4 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179583644 179583644 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:179583644G>A uc021vsy.1 - 80 20776 c.20551C>T c.(20551-20553)Ctc>Ttc p.L6851F TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L3512F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7778 Ig-like 50. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E6851K(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTGAATGTGAGGCTCATTCCA 0.478000 10 14 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70333061 70333061 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:70333061C>T uc001oqc.3 - 20 3251 c.3139G>A c.(3139-3141)Ggc>Agc p.G1047S SHANK2_uc010rqn.2_Missense_Mutation_p.G523S|SHANK2_uc001opz.3_Missense_Mutation_p.G518S|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA. 734 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GGCCCCAGGCCCACATCCTCA 0.697000 22 25 0 0 1 0 0 NAPA 8775 broad.mit.edu 37 19 48018142 48018142 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:48018142C>T uc002phd.2 - 0 374 c.56G>A c.(55-57)cGc>cAc p.R19H NAPA_uc002pha.2_Missense_Mutation_p.R19H|NAPA_uc002phc.2_5'UTR|NAPA_uc010elf.2_5'UTR|NAPA_uc002phe.3_Missense_Mutation_p.R19H|NAPA_uc010elg.2_Non-coding_Transcript NM_003827 NP_003818 P54920 SNAA_HUMAN Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, alpha (NAPA), transcript variant 1, mRNA. 19 cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport cytosol breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3) 11 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049) CTTCACTTTGCGCTCCGCCTC 0.632000 23 15 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48612531 48612531 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:48612531C>T uc003ctz.2 - 74 6246 c.6245G>A c.(6244-6246)gGa>gAa p.G2082E NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 2082 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCCAGGGGTTCCAGGGAGTCC 0.647000 33 29 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9074280 9074280 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:9074280G>A uc002mkp.3 - 2 13370 c.13166C>T c.(13165-13167)aCc>aTc p.T4389I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4391 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 ACCTGTTTGGGTGGTGATGGT 0.468000 55 44 0 0 1 0 0 ITGA2 3673 broad.mit.edu 37 5 52370278 52370278 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:52370278G>A uc003joy.3 + 20 2778 c.2635G>A c.(2635-2637)Ggc>Agc p.G879S ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.G803S|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript NM_002203 NP_002194 P17301 ITA2_HUMAN Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA. 879 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) CTGCGATGTAGGCTACCCTGC 0.443000 16 16 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74011656 74011656 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr17:74011656C>T uc010wss.1 - 14 2058 c.1830G>A c.(1828-1830)aaG>aaA p.K610K EVPL_uc002jqi.2_Silent_p.K588K|EVPL_uc010wst.1_Silent_p.K58K NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 588 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity p.L610F(1) 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 CCTCGCACTCCTTCTGGGCTG 0.667000 0 13 0 0 1 0 0 C12orf71 728858 broad.mit.edu 37 12 27234245 27234245 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr12:27234245G>A uc001rhq.3 - 1 711 c.672C>T c.(670-672)atC>atT p.I224I NM_001080406 NP_001073875 A8MTZ7 CL071_HUMAN Homo sapiens chromosome 12 open reading frame 71 (C12orf71), mRNA. 224 endometrium(2)|large_intestine(1)|lung(4)|skin(1) 8 GAGAGGGGAGGATACGCTGCC 0.557000 50 27 0 0 1 0 0 FOXK2 3607 broad.mit.edu 37 17 80525955 80525955 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr17:80525955C>T uc002kfn.3 + 2 811 c.640C>T c.(640-642)Ccc>Tcc p.P214S FOXK2_uc002kfm.1_Missense_Mutation_p.P214S|FOXK2_uc010diu.3_Missense_Mutation_p.P214S NM_004514 NP_004505 Q01167 FOXK2_HUMAN Homo sapiens forkhead box K2 (FOXK2), mRNA. 214 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) CCCCTCCAGCCCCCGGGGAGC 0.522000 2 23 0 0 1 0 0 DFFB 1677 broad.mit.edu 37 1 3786330 3786330 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:3786330C>T uc001alc.3 + 4 995 c.672C>T c.(670-672)ttC>ttT p.F224F DFFB_uc001ale.3_Non-coding_Transcript|DFFB_uc009vlp.3_Non-coding_Transcript|DFFB_uc001alb.3_Non-coding_Transcript|DFFB_uc010nzn.2_Silent_p.F248F|DFFB_uc009vlq.3_Non-coding_Transcript|DFFB_uc009vlr.3_Silent_p.F175F|DFFB_uc001ald.3_Silent_p.F160F NM_004402 NP_004393 O76075 DFFB_HUMAN Homo sapiens DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) (DFFB), mRNA. 224 DNA fragmentation involved in apoptotic nuclear change|apoptotic chromosome condensation|intracellular signal transduction cytosol|nucleoplasm deoxyribonuclease activity|enzyme binding endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211) Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) AAGGCTGGTTCTCCTGCCAGG 0.662000 13 10 0 0 1 0 0 IGFL4 444882 broad.mit.edu 37 19 46543783 46543783 + Silent SNP T G G TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:46543783T>G uc002pdy.1 - 1 117 c.63A>C c.(61-63)ggA>ggC p.G21G NM_001002923 NP_001002923 Q6B9Z1 IGFL4_HUMAN Homo sapiens IGF-like family member 4 (IGFL4), mRNA. 21 extracellular region cervix(1)|kidney(1)|lung(1) 3 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208) CACCTGTGACTCCTTCTGAGT 0.527000 44 38 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89351517 89351517 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr16:89351517G>A uc002fmx.1 - 8 1894 c.1433C>T c.(1432-1434)tCc>tTc p.S478F ANKRD11_uc002fmy.1_Missense_Mutation_p.S478F|ANKRD11_uc002fnc.1_Missense_Mutation_p.S478F|ANKRD11_uc002fnb.1_Missense_Mutation_p.S435F NM_013275 NP_037407 Q6UB99 ANR11_HUMAN Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA. 478 Ser-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CGACTCCGAGGAGCAGAACTT 0.547000 28 16 0 0 1 0 0 OR7E24 26648 broad.mit.edu 37 19 9362181 9362181 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:9362181G>A uc002mlb.1 + 0 462 c.462G>A c.(460-462)atG>atA p.M154I NM_001079935 NP_001073404 Q6IFN5 O7E24_HUMAN Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA. 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 GAATCATCATGAACCCACGCC 0.443000 32 17 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89981778 89981778 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:89981778G>A uc003kju.3 + 28 6552 c.6456G>A c.(6454-6456)gtG>gtA p.V2152V GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 2152 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 p.V2152V(2) 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) ATGTCTCTGTGAAGTTTAAAG 0.428000 8 8 0 0 1 0 0 CES5A 221223 broad.mit.edu 37 16 55886935 55886935 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr16:55886935G>A uc021tir.1 - 10 1364 c.1218C>T c.(1216-1218)atC>atT p.I406I CES5A_uc002eip.2_Silent_p.I377I|CES5A_uc002eio.2_Silent_p.I377I|CES5A_uc002eiq.2_Silent_p.I138I|CES5A_uc002eir.2_Silent_p.I271I NM_001190158 NP_001177087 Q6NT32 EST5A_HUMAN Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA. 377 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 ACTGAGGCGGGATGTGCTGTA 0.458000 45 32 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 33996038 33996038 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:33996038C>T uc003oir.4 - 8 2911 c.2548G>A c.(2548-2550)Gag>Aag p.E850K GRM4_uc011dsn.2_Missense_Mutation_p.E803K|GRM4_uc010jvh.3_Missense_Mutation_p.E850K|GRM4_uc010jvi.3_Missense_Mutation_p.E542K|GRM4_uc003oio.3_Missense_Mutation_p.E542K|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.E710K|GRM4_uc003oiq.3_Missense_Mutation_p.E717K|GRM4_uc011dsm.2_Missense_Mutation_p.E681K NM_000841 NP_000832 Q14833 GRM4_HUMAN Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA. 850 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.P849Q(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) ACGTTCTGCTCCGGGTGGAAG 0.607000 60 40 0 0 1 0 0 RXFP2 122042 broad.mit.edu 37 13 32351582 32351582 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr13:32351582C>T uc001utt.3 + 7 782 c.711C>T c.(709-711)ttC>ttT p.F237F RXFP2_uc010aba.3_Silent_p.F237F NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA. 237 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) CCTTGTTTTTCCTGTAAGTAT 0.323000 5 15 0 0 1 0 0 ZNF702P 79986 broad.mit.edu 37 19 53473286 53473286 + RNA SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:53473286G>A uc002qan.4 - 3 c.1215C>T Homo sapiens zinc finger protein 702, pseudogene (ZNF702P), non-coding RNA. CATTTGTAAGGTTTCTCTCCA 0.363000 37 36 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179597691 179597691 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:179597691C>T uc021vsy.1 - 51 12705 c.12480G>A c.(12478-12480)agG>agA p.R4160R TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.R821R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 5087 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) CAAATGCTATCCTGTATCTGT 0.483000 26 16 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128410977 128410977 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:128410977G>A uc003qbk.3 - 7 1690 c.1323C>T c.(1321-1323)gaC>gaT p.D441D PTPRK_uc010kfc.3_Silent_p.D441D|PTPRK_uc003qbj.3_Silent_p.D441D|PTPRK_uc011ebu.2_Silent_p.D441D|PTPRK_uc003qbl.1_Silent_p.D311D|PTPRK_uc011ebv.1_Silent_p.D441D NM_002844 NP_002835 Q15262 PTPRK_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA. 441 Fibronectin type-III 2. cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TGTCCAAACAGTCTGCCTTGC 0.478000 70 43 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12856020 12856020 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:12856020C>T uc001auj.2 + 3 1403 c.1300C>T c.(1300-1302)Cgg>Tgg p.R434W NM_023013 NP_075389 O95521 PRAM1_HUMAN Homo sapiens PRAME family member 1 (PRAMEF1), mRNA. 434 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CACCCCACTTCGGGCTGAGCT 0.562000 228 31 0 0 1 0 0 FOXJ2 55810 broad.mit.edu 37 12 8197366 8197366 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr12:8197366C>T uc001qtu.3 + 5 1714 c.629C>T c.(628-630)tCt>tTt p.S210F FOXJ2_uc001qtt.1_Missense_Mutation_p.S210F NM_018416 NP_060886 Q9P0K8 FOXJ2_HUMAN Homo sapiens forkhead box J2 (FOXJ2), mRNA. 210 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) GGCACAGGATCTGTGGATGGT 0.527000 53 57 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G T T rs121913254 TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:115256530G>T uc009wgu.3 - 2 435 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 92 77 1.15098e-32 1.17499e-32 1 1 0 URB2 9816 broad.mit.edu 37 1 229786999 229786999 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:229786999C>T uc001hts.1 + 7 4303 c.4167C>T c.(4165-4167)atC>atT p.I1389I URB2_uc009xfd.1_Silent_p.I1389I NM_014777 NP_055592 Q14146 URB2_HUMAN Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA. 1389 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 TGAAAGCCATCCCTTCTTTCT 0.363000 19 15 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10363347 10363347 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr17:10363347G>A uc002gmn.3 - 13 1449 c.1338C>T c.(1336-1338)atC>atT p.I446I AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 446 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 GCTGCTGGTTGATGCGGGTGA 0.483000 14 104 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77660215 77660215 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr4:77660215G>A uc011cbx.2 + 4 1842 c.889G>A c.(889-891)Gaa>Aaa p.E297K SHROOM3_uc011cbz.1_Missense_Mutation_p.E121K|SHROOM3_uc003hkf.1_Missense_Mutation_p.E172K|SHROOM3_uc003hkg.3_Missense_Mutation_p.E75K NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 297 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) TGGCCTCCTCGAAGGGATGAG 0.557000 38 34 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7620365 7620365 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:7620365C>T uc003bqm.2 + 7 2046 c.1772C>T c.(1771-1773)gCt>gTt p.A591V GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.A591V|GRM7_uc003bql.2_Missense_Mutation_p.A591V|GRM7_uc003bqn.1_Missense_Mutation_p.A174V|GRM7_uc010hch.1_Missense_Mutation_p.A102V NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 591 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TCCCCCTGGGCTGTGATTCCT 0.527000 55 46 0 0 1 0 0 FBXO42 54455 broad.mit.edu 37 1 16583246 16583246 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:16583246G>A uc001ayg.3 - 4 727 c.511C>T c.(511-513)Cct>Tct p.P171S FBXO42_uc001ayf.3_Missense_Mutation_p.P78S NM_018994 NP_061867 Q6P3S6 FBX42_HUMAN Homo sapiens F-box protein 42 (FBXO42), mRNA. 171 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) TTGGGGGAAGGATAGGACCCT 0.522000 36 30 0 0 1 0 0 SASH3 54440 broad.mit.edu 37 X 128926351 128926351 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chrX:128926351G>A uc004euu.3 + 4 672 c.490G>A c.(490-492)Gaa>Aaa p.E164K SASH3_uc011muo.1_Missense_Mutation_p.E81K NM_018990 NP_061863 O75995 SASH3_HUMAN Homo sapiens SAM and SH3 domain containing 3 (SASH3), mRNA. 164 breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 12 CTTCGGGGAGGAACCACCTGC 0.627000 8 65 0 0 1 0 0 CCDC147 159686 broad.mit.edu 37 10 106124574 106124574 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:106124574C>T uc001kyh.3 + 3 658 c.524C>T c.(523-525)tCc>tTc p.S175F NM_001008723 NP_001008723 Q5T655 CC147_HUMAN Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA. 175 p.S175S(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) TTACGAGAATCCCTAGCTCAG 0.463000 32 26 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140751612 140751612 + Silent SNP T C C TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:140751612T>C uc003ljw.2 + 0 1651 c.1651T>C c.(1651-1653)Ttg>Ctg p.L551L 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_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.L551L|PCDHGC5_uc011dau.2_5'Flank NM_018924 NP_061747 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA. 553 Cadherin 5. 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) CCTGCGCGTGTTGGTGGACGA 0.672000 37 19 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70819937 70819937 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:70819937C>T uc003kbp.1 + 24 5822 c.5559C>T c.(5557-5559)acC>acT p.T1853T BDP1_uc003kbo.3_Silent_p.T1853T|BDP1_uc003kbq.1_Non-coding_Transcript NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA. 1853 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GGGGTAAGACCTCTAAGAAGG 0.463000 49 43 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70866590 70866590 + Missense_Mutation SNP G T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:70866590G>T uc003pfc.1 + 33 2384 c.2267G>T c.(2266-2268)gGg>gTg p.G756V COL19A1_uc010kam.2_Missense_Mutation_p.G652V NM_001858 NP_001849 Q14993 COJA1_HUMAN Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA. 756 Triple-helical region 4 (COL4). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 GGCTACCCTGGGATACCTGGG 0.373000 14 8 0.00621372 0.0062235 1 1 0 EMR2 30817 broad.mit.edu 37 19 14865891 14865891 + Nonsense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:14865891G>A uc002mzp.1 - 13 1921 c.1465C>T c.(1465-1467)Cag>Tag p.Q489* EMR2_uc010dzs.1_Intron|EMR2_uc010xnw.1_Intron|EMR2_uc002mzo.1_Nonsense_Mutation_p.Q478*|EMR2_uc002mzq.1_Nonsense_Mutation_p.Q429*|EMR2_uc002mzr.1_Nonsense_Mutation_p.Q440*|EMR2_uc002mzs.1_Nonsense_Mutation_p.Q347*|EMR2_uc002mzt.1_Nonsense_Mutation_p.Q385*|EMR2_uc002mzu.1_Nonsense_Mutation_p.Q396*|EMR2_uc010xnx.1_Non-coding_Transcript|EMR2_uc010xny.1_Intron NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA. 489 GPS. cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 CATCCATTCTGGCCATGCTCC 0.587000 42 33 0 0 1 0 0 PMS1 5378 broad.mit.edu 37 2 190719754 190719754 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:190719754C>T uc002urh.4 + 8 2285 c.1756C>T c.(1756-1758)Cgt>Tgt p.R586C PMS1_uc010zga.1_Missense_Mutation_p.R547C|PMS1_uc010zgb.1_Missense_Mutation_p.R525C|PMS1_uc002urk.4_Missense_Mutation_p.R547C|PMS1_uc002uri.4_Missense_Mutation_p.R586C|PMS1_uc010zgc.2_Missense_Mutation_p.R410C|PMS1_uc010zgd.2_Missense_Mutation_p.R410C|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Missense_Mutation_p.R547C|PMS1_uc010frz.3_Intron|PMS1_uc002url.3_Missense_Mutation_p.R371C|PMS1_uc002urm.3_Non-coding_Transcript|PMS1_uc002urn.1_Missense_Mutation_p.R254C NM_000534 NP_000525 P54277 PMS1_HUMAN Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA. 586 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) TCAAGATCATCGTCCTCAGTT 0.348000 """Mis, N""" """colorectal, endometrial, ovarian""" Direct reversal of damage;Mismatch excision repair (MMR) 43 33 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168101750 168101750 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:168101750C>T uc002udx.3 + 8 3937 c.3848C>T c.(3847-3849)tCt>tTt p.S1283F XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.S1108F|XIRP2_uc010fpq.3_Missense_Mutation_p.S1061F|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 1108 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GAGACTTTTTCTTTAGATGAG 0.353000 61 31 0 0 1 0 0 CA1 759 broad.mit.edu 37 8 86250533 86250533 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr8:86250533G>A uc022axc.1 - 1 262 c.183C>T c.(181-183)atC>atT p.I61I CA13_uc003ydf.1_Intron|CA1_uc003ydh.3_Silent_p.I61I|CA1_uc022axd.1_Silent_p.I61I|CA1_uc010mae.2_Silent_p.I61I|CA1_uc003ydi.3_Silent_p.I61I NM_001164830 NP_001729 P00915 CAH1_HUMAN Homo sapiens carbonic anhydrase I (CA1), transcript variant 5, mRNA. 61 one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding p.I60M(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 13 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) GCCCCACATTGATAATTTCTT 0.418000 92 86 0 0 1 0 0 USP19 10869 broad.mit.edu 37 3 49148196 49148196 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:49148196G>A uc003cwd.2 - 22 3656 c.3337C>T c.(3337-3339)Cgt>Tgt p.R1113C USP19_uc003cwa.3_Missense_Mutation_p.R921C|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Missense_Mutation_p.R1216C|USP19_uc011bcg.2_Missense_Mutation_p.R1204C|USP19_uc003cwc.2_Missense_Mutation_p.R871C|USP19_uc011bch.2_Missense_Mutation_p.R1214C NM_006677 NP_006668 O94966 UBP19_HUMAN Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA. 1113 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.R1201C(1)|p.R1214C(1) NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ATAAAACTACGAAAGGAGAAG 0.532000 63 54 0 0 1 0 0 ZNF470 388566 broad.mit.edu 37 19 57089701 57089701 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:57089701C>T uc002qnl.4 + 5 2580 c.1904C>T c.(1903-1905)tCc>tTc p.S635F ZNF470_uc010etn.3_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN Homo sapiens zinc finger protein 470 (ZNF470), mRNA. 635 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) CATCGTAAATCCCTTACTCTG 0.423000 46 25 0 0 1 0 0 AP4B1 10717 broad.mit.edu 37 1 114437848 114437848 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:114437848C>T uc001eeb.3 - 9 2245 c.2059G>A c.(2059-2061)Gat>Aat p.D687N LOC100287722_uc001edv.1_Intron|AP4B1_uc001eec.3_Missense_Mutation_p.D519N|AP4B1_uc010owp.2_Missense_Mutation_p.D588N|AP4B1_uc001eed.3_Missense_Mutation_p.D687N|AP4B1_uc001eea.1_3'UTR|AP4B1_uc001eee.1_3'UTR NM_001253852 NP_001240781 Q9Y6B7 AP4B1_HUMAN Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 2, mRNA. 687 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3) 25 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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) CCAGTATCATCCTGAGCACTG 0.488000 27 27 0 0 1 0 0 ATP2C2 9914 broad.mit.edu 37 16 84488463 84488463 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr16:84488463G>A uc010chj.3 + 20 2109 c.2020G>A c.(2020-2022)Gat>Aat p.D674N ATP2C2_uc002fhx.3_Missense_Mutation_p.D674N|ATP2C2_uc002fhy.3_Missense_Mutation_p.D691N|ATP2C2_uc002fhz.3_Missense_Mutation_p.D523N NM_014861 NP_055676 O75185 AT2C2_HUMAN Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA. 674 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 CATGACTGGGGATGGGGTGAA 0.622000 38 14 0 0 1 0 0 MUTYH 4595 broad.mit.edu 37 1 45798111 45798111 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:45798111C>T uc001cnm.3 - 8 947 c.731G>A c.(730-732)cGa>cAa p.R244Q MUTYH_uc001cnf.3_Missense_Mutation_p.R219Q|MUTYH_uc009vxo.3_Missense_Mutation_p.R219Q|MUTYH_uc001cng.3_Missense_Mutation_p.R230Q|MUTYH_uc001cnj.3_Missense_Mutation_p.R127Q|MUTYH_uc001cni.3_Missense_Mutation_p.R219Q|MUTYH_uc001cnh.3_Missense_Mutation_p.R220Q|MUTYH_uc001cnl.3_Missense_Mutation_p.R233Q|MUTYH_uc009vxp.3_Missense_Mutation_p.R247Q|MUTYH_uc001cnn.3_Missense_Mutation_p.R234Q|MUTYH_uc001cno.3_Missense_Mutation_p.R127Q|MUTYH_uc010oll.2_Intron NM_012222 NP_036354 Q9UIF7 MUTYH_HUMAN Homo sapiens mutY homolog (E. coli) (MUTYH), transcript variant alpha1, mRNA. 244 depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|MutSalpha complex binding|endonuclease activity|metal ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) ACCAATGGCTCGGACACGGCA 0.607000 Mis colorectal Base excision repair (BER), DNA glycosylases MUTYH-associated polyposis 32 15 0 0 1 0 0 CRELD2 79174 broad.mit.edu 37 22 50315946 50315946 + Splice_Site SNP C T T rs71805922 TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr22:50315946C>T uc010hal.2 + 6 728 c.593_splice c.e6-1 p.V198_splice CRELD2_uc003biz.3_Intron|CRELD2_uc010haj.3_Intron|CRELD2_uc003bja.2_Intron|CRELD2_uc010hak.2_Intron|CRELD2_uc010ham.2_Intron NM_001135101 NP_001128573 Q6UXH1 CREL2_HUMAN Homo sapiens cysteine-rich with EGF-like domains 2 (CRELD2), transcript variant 1, mRNA. 197 endoplasmic reticulum|extracellular region calcium ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3) 9 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247) CCTCAGCAGTCAGGACCGGCC 0.627000 3 11 0 0 1 0 0 ANKRD34A 284615 broad.mit.edu 37 1 145474476 145474476 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:145474476C>T uc021ouy.1 + 0 1148 c.1148C>T c.(1147-1149)tCc>tTc p.S383F LIX1L_uc001enr.3_5'Flank|ANKRD34A_uc001enq.1_Missense_Mutation_p.S383F NM_001039888 NP_001034977 Q69YU3 AN34A_HUMAN Homo sapiens ankyrin repeat domain 34A (ANKRD34A), mRNA. 383 Pro-rich. endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 20 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CCGCGCCAGTCCCAGGAGAGT 0.711000 15 9 0 0 1 0 0 ATF6B 1388 broad.mit.edu 37 6 32083520 32083520 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:32083520G>A uc003nzn.3 - 17 2141 c.2108C>T c.(2107-2109)cCc>cTc p.P703L TNXB_uc010jts.1_Intron|ATF6B_uc003nzm.1_Intron|ATF6B_uc003nzo.3_Missense_Mutation_p.P700L NM_004381 NP_004372 Q99941 ATF6B_HUMAN Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA. 703 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 CAGAGGTCAGGGATGATTGAG 0.622000 33 26 0 0 1 0 0 CADM2 253559 broad.mit.edu 37 3 85961546 85961546 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:85961546G>A uc003dql.3 + 4 532 c.532G>A c.(532-534)Gat>Aat p.D178N CADM2_uc003dqj.3_Missense_Mutation_p.D176N|CADM2_uc003dqk.3_Missense_Mutation_p.D185N|CADM2_uc003dqm.2_Missense_Mutation_p.D68N|CADM2_uc021xay.1_Missense_Mutation_p.D68N|CADM2_uc021xaz.1_Missense_Mutation_p.D68N|CADM2_uc021xba.1_Missense_Mutation_p.D68N NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA. 176 Ig-like C2-type 1. adherens junction organization|cell junction assembly integral to membrane|plasma membrane p.E177D(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) AAAAGAAGAGGATGCAAATCG 0.373000 19 12 0 0 1 0 0 SCAMP3 10067 broad.mit.edu 37 1 155226534 155226534 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:155226534G>A uc001fjs.3 - 7 1062 c.828C>T c.(826-828)tcC>tcT p.S276S FAM189B_uc001fjm.3_5'Flank|FAM189B_uc001fjn.3_5'Flank|FAM189B_uc001fjo.3_5'Flank|FAM189B_uc001fjp.3_5'Flank|FAM189B_uc001fjq.1_5'Flank|SCAMP3_uc001fjt.3_Silent_p.S250S NM_005698 NP_005689 O14828 SCAM3_HUMAN Homo sapiens secretory carrier membrane protein 3 (SCAMP3), transcript variant 1, mRNA. 276 post-Golgi vesicle-mediated transport|protein transport integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1) 19 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) GCATGAGCACGGATACTGCTG 0.577000 37 20 0 0 1 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30867919 30867919 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr12:30867919G>A uc001rji.1 - 14 3375 c.2624C>T c.(2623-2625)tCc>tTc p.S875F CAPRIN2_uc001rjf.1_Missense_Mutation_p.S671F|CAPRIN2_uc001rjg.1_Missense_Mutation_p.S542F|CAPRIN2_uc001rjh.1_Missense_Mutation_p.S825F|CAPRIN2_uc001rjk.4_Missense_Mutation_p.S874F|CAPRIN2_uc001rjj.1_Missense_Mutation_p.S541F|CAPRIN2_uc001rjl.4_Missense_Mutation_p.S819F|CAPRIN2_uc001rjm.1_3'UTR NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA. 875 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex RNA binding|receptor binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) GGACCGATAGGAATTGGTTAT 0.418000 64 45 0 0 1 0 0 TERT 7015 broad.mit.edu 37 5 1255463 1255463 + Silent SNP G A A rs67578903 TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:1255463G>A uc003jcb.1 - 13 3154 c.3096C>T c.(3094-3096)ttC>ttT p.F1032F TERT_uc003jbz.1_Silent_p.F228F|TERT_uc003jcc.1_Silent_p.F969F|TERT_uc003jca.1_Silent_p.F1020F|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Non-coding_Transcript|TERT_uc021xwa.1_Missense_Mutation_p.P95S|TERT_uc021xwb.1_Silent_p.F184F NM_198253 NP_937983 O14746 TERT_HUMAN Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA. 1032 CTE. DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase PML body|cytoplasm|nucleolus|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TGACGCGCAGGAAAAATGTGG 0.567000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 25 24 0 0 1 0 0 MKL1 57591 broad.mit.edu 37 22 40815382 40815382 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr22:40815382C>T uc003ayv.1 - 8 1267 c.1060G>A c.(1060-1062)Gag>Aag p.E354K MKL1_uc010gyf.1_Missense_Mutation_p.E304K|MKL1_uc003ayw.1_Missense_Mutation_p.E354K|MKL1_uc010gye.1_Missense_Mutation_p.E354K NM_020831 NP_065882 Q969V6 MKL1_HUMAN Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA. 354 SAP. positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 TGCTTCAGCTCTGCCACCTGC 0.607000 T RBM15 acute megakaryocytic leukemia 17 11 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135431960 135431960 + Missense_Mutation SNP C T T rs145052934 TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chrX:135431960C>T uc004ezu.1 + 5 6386 c.6095C>T c.(6094-6096)tCc>tTc p.S2032F GPR112_uc010nsb.1_Missense_Mutation_p.S1827F|GPR112_uc010nsc.1_Missense_Mutation_p.S1799F NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 2032 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.S2032F(2) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GTTATGACTTCCTCTACAGTA 0.448000 5 67 0 0 1 0 0 RPL35A 6165 broad.mit.edu 37 3 197680974 197680974 + Nonsense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:197680974C>T uc003fyr.3 + 3 338 c.265C>T c.(265-267)Cga>Tga p.R89* IQCG_uc003fyp.3_Intron|RPL35A_uc003fys.3_Nonsense_Mutation_p.R89* NM_000996 NP_000987 P18077 RL35A_HUMAN Homo sapiens ribosomal protein L35a (RPL35A), mRNA. 89 endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription cytosol|ribosome protein binding|structural constituent of ribosome|tRNA binding lung(1)|prostate(1)|urinary_tract(1) 3 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;1.04e-23)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.182) TGCCAAATTCCGAAGCAATCT 0.483000 28 11 0 0 1 0 0 SLC35G5 83650 broad.mit.edu 37 8 11189602 11189602 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr8:11189602C>T uc003wtp.1 + 0 1108 c.987C>T c.(985-987)agC>agT p.S329S NM_054028 NP_473369 Q96KT7 AMCL2_HUMAN Homo sapiens solute carrier family 35, member G5 (SLC35G5), mRNA. 329 integral to membrane GGAACCTCAGCTGTGAGAGGA 0.512000 41 27 0 0 1 0 0 SASH1 23328 broad.mit.edu 37 6 148861626 148861626 + Nonsense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:148861626C>T uc003qme.1 + 16 2618 c.2143C>T c.(2143-2145)Cag>Tag p.Q715* SASH1_uc011eeb.1_Nonsense_Mutation_p.Q476*|SASH1_uc003qmf.1_Nonsense_Mutation_p.Q125* NM_015278 NP_056093 O94885 SASH1_HUMAN Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA. 715 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) CGTTGACAGCCAGGGCCTGAG 0.527000 4 10 0 0 1 0 0 PEX5 5830 broad.mit.edu 37 12 7362692 7362692 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr12:7362692C>T uc009zfu.2 + 16 2373 c.1793C>T c.(1792-1794)gCc>gTc p.A598V PEX5_uc001qsw.3_Missense_Mutation_p.A598V|PEX5_uc010sgc.2_Missense_Mutation_p.A613V|PEX5_uc001qsu.3_Missense_Mutation_p.A561V|PEX5_uc010sgd.2_Missense_Mutation_p.A619V|PEX5_uc001qsv.3_Missense_Mutation_p.A590V NM_001131026 NP_001124498 P50542 PEX5_HUMAN Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA. 598 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1) 21 GAAGGAGGTGCCATGTCGGAG 0.602000 25 29 0 0 1 0 0 SLC12A6 9990 broad.mit.edu 37 15 34543178 34543178 + Silent SNP A G G TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr15:34543178A>G uc001zhw.3 - 9 1578 c.1414T>C c.(1414-1416)Tta>Cta p.L472L SLC12A6_uc001zhv.3_Silent_p.L421L|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Silent_p.L457L|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Silent_p.L413L|SLC12A6_uc001zib.3_Silent_p.L463L|SLC12A6_uc001zic.3_Silent_p.L472L|SLC12A6_uc010bau.3_Silent_p.L472L|SLC12A6_uc001zid.3_Silent_p.L413L|SLC12A6_uc001zht.3_5'Flank|SLC12A6_uc001zhu.3_Silent_p.L284L NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA. 472 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) TCATGGTTTAAGCTGCCTAAG 0.433000 40 36 0 0 1 0 0 TNFAIP3 7128 broad.mit.edu 37 6 138199917 138199917 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:138199917C>T uc003qhr.3 + 6 1401 c.1335C>T c.(1333-1335)ccC>ccT p.P445P TNFAIP3_uc003qhs.3_Silent_p.P445P|TNFAIP3_uc021zfv.1_Silent_p.P73P NM_006290 NP_006281 P21580 TNAP3_HUMAN Homo sapiens tumor necrosis factor, alpha-induced protein 3 (TNFAIP3), mRNA. 445 Interaction with NAF1 (By similarity). B-1 B cell homeostasis|anti-apoptosis|apoptosis|negative regulation of B cell activation|negative regulation of CD40 signaling pathway|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of bone resorption|negative regulation of endothelial cell apoptosis|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus DNA binding|caspase inhibitor activity|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) CCTATGAGCCCTTGGCGTGGA 0.607000 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" 34 27 0 0 1 0 0 RABGAP1L 9910 broad.mit.edu 37 1 174652663 174652663 + Missense_Mutation SNP T C C TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:174652663T>C uc001gjx.3 + 14 2105 c.1828T>C c.(1828-1830)Tac>Cac p.Y610H NM_014857 NP_055672 Q5R372 RBG1L_HUMAN Homo sapiens RAB GTPase activating protein 1-like (RABGAP1L), transcript variant 1, mRNA. 610 Rab-GAP TBC. regulation of protein localization Golgi apparatus|early endosome|nucleus Rab GTPase activator activity NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2) 45 TCTCTAGGCCTACTCTGTGTA 0.403000 48 32 0 0 1 0 0 NRP1 8829 broad.mit.edu 37 10 33552608 33552608 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:33552608G>A uc001iwx.4 - 3 1147 c.624C>T c.(622-624)taC>taT p.Y208Y NRP1_uc001iwv.4_Silent_p.Y208Y|NRP1_uc001iwy.4_Silent_p.Y208Y|NRP1_uc009xlz.3_Silent_p.Y208Y|NRP1_uc001iww.4_Silent_p.Y27Y|NRP1_uc001iwz.2_Silent_p.Y208Y|NRP1_uc001ixa.2_Silent_p.Y208Y|NRP1_uc001ixb.2_Silent_p.Y208Y|NRP1_uc001ixc.1_Silent_p.Y208Y NM_003873 NP_003864 O14786 NRP1_HUMAN Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA. 208 CUB 2. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) CTAGCCGGTCGTAGCGACAGA 0.473000 34 30 0 0 1 0 0 MAG 4099 broad.mit.edu 37 19 35791052 35791052 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:35791052C>T uc002nyy.2 + 5 913 c.715C>T c.(715-717)Ccc>Tcc p.P239S MAG_uc002nyx.2_Missense_Mutation_p.P239S|MAG_uc010eds.2_Missense_Mutation_p.P214S|MAG_uc002nyz.2_Missense_Mutation_p.P239S NM_002361 NP_001186145 P20916 MAG_HUMAN Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA. 239 blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) GGCCTTAGACCCCCCGGTGAT 0.697000 12 3 0 0 1 0 0 RNF19B 127544 broad.mit.edu 37 1 33402651 33402652 + Missense_Mutation DNP GG AA AA TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:33402651_33402652GG>AA uc010oho.2 - 8 1954_1955 c.1954_1955CC>TT c.(1954-1956)cct>TTt p.P652F RNF19B_uc001bwm.4_3'UTR|RNF19B_uc010ohp.2_Missense_Mutation_p.P651F NM_153341 NP_699172 Q6ZMZ0 RN19B_HUMAN Homo sapiens ring finger protein 19B (RNF19B), transcript variant 1, mRNA. 652 integral to membrane ligase activity|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GATGTCCCAAGGTTTGCTGGCC 0.550000 70 59 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 GL000192.1 199556 199556 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chrGL000192.1:199556G>A uc010yii.1 - 6 1085 c.864C>T c.(862-864)atC>atT p.I288I HYDIN_uc010yih.1_Non-coding_Transcript Q4G0P3 HYDIN_HUMAN Homo sapiens mRNA for KIAA1864 protein, partial cds. 1986 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) TTTGGAAAATGATTTTTTCCA 0.428000 59 18 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141755446 141755446 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr7:141755446G>A uc003vwy.3 + 27 3457 c.3403G>A c.(3403-3405)Ggg>Agg p.G1135R NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1135 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTATGGCTTTGGGGAAACTGA 0.537000 54 42 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168105143 168105143 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:168105143G>A uc002udx.3 + 8 7330 c.7241G>A c.(7240-7242)gGa>gAa p.G2414E XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G2239E|XIRP2_uc010fpq.3_Missense_Mutation_p.G2192E|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2239 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATCATAACAGGAAAAACCGGT 0.438000 53 41 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11291001 11291001 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:11291001G>A uc001asd.3 - 17 2881 c.2760C>T c.(2758-2760)tcC>tcT p.S920S NM_004958 NP_004949 P42345 MTOR_HUMAN Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA. 920 T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 GACTTGACTTGGATTCTGACA 0.493000 80 51 0 0 1 0 0 SPOCD1 90853 broad.mit.edu 37 1 32266186 32266186 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:32266186C>T uc001bts.1 - 3 1516 c.1458G>A c.(1456-1458)ggG>ggA p.G486G SPOCD1_uc001btu.3_Silent_p.G486G|SPOCD1_uc001btv.3_5'UTR|SPOCD1_uc021oks.1_5'Flank|SPOCD1_uc001btw.1_5'Flank NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA. 486 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) GGCTGATGGCCCCCAGGAGCT 0.667000 5 8 0 0 1 0 0 CC2D2B 387707 broad.mit.edu 37 10 97791667 97791667 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:97791667C>T uc010qop.2 + 11 1340 c.1108C>T c.(1108-1110)Ccc>Tcc p.P370S LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CC2D2B_uc001klk.3_Non-coding_Transcript|CC2D2B_uc001kll.3_Missense_Mutation_p.P291S NM_001159747 NP_001153219 Q6DHV5 C2D2B_HUMAN Homo sapiens coiled-coil and C2 domain containing 2B (CC2D2B), transcript variant 1, mRNA. 291 large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1) 10 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) TGCTGAATTTCCCCAGACAGA 0.388000 67 60 0 0 1 0 0 SLC6A9 6536 broad.mit.edu 37 1 44463367 44463367 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:44463367G>A uc001cll.3 - 13 2163 c.1971C>T c.(1969-1971)gcC>gcT p.A657A SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.3_Silent_p.A603A|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Silent_p.A588A|SLC6A9_uc010oko.2_Silent_p.A473A|SLC6A9_uc001cln.3_Silent_p.A584A NM_201649 NP_964012 P48067 SC6A9_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA. 657 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) GCTCCAGGAGGGCAGGGCCCC 0.647000 94 73 0 0 1 0 0 ARAP1 116985 broad.mit.edu 37 11 72397152 72397152 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:72397152G>A uc001osu.3 - 33 4459 c.4270C>T c.(4270-4272)Ccc>Tcc p.P1424S ARAP1_uc001osv.3_Missense_Mutation_p.P1413S|ARAP1_uc001osr.3_Missense_Mutation_p.P1184S|ARAP1_uc001oss.3_Missense_Mutation_p.P1179S|ARAP1_uc009yth.3_Missense_Mutation_p.P1107S|ARAP1_uc010rre.2_Missense_Mutation_p.P1168S NM_001040118 NP_056057 Q96P48 ARAP1_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA. 1424 actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction Golgi cisterna membrane|cytosol|plasma membrane ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 CCTCGAAGGGGGATCAGTGAC 0.642000 27 26 0 0 1 0 0 RIT2 6014 broad.mit.edu 37 18 40503683 40503683 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr18:40503683C>T uc002lav.3 - 3 453 c.280G>A c.(280-282)Ggc>Agc p.G94S RIT2_uc010dnf.3_Missense_Mutation_p.G94S NM_002930 NP_002921 Q99578 RIT2_HUMAN Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA. 94 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane GTP binding|GTPase activity|calmodulin binding endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATGATGAAGCCTTCCCCACCT 0.433000 150 126 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10363534 10363534 + Nonsense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr17:10363534G>A uc002gmn.3 - 12 1363 c.1252C>T c.(1252-1254)Cag>Tag p.Q418* AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 418 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 TGCACAGTCTGGCCTTTGGTT 0.413000 11 53 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39885334 39885334 + Silent SNP C A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr15:39885334C>A uc001zkh.3 + 17 3080 c.2901C>A c.(2899-2901)ccC>ccA p.P967P THBS1_uc010bbi.3_Silent_p.P439P NM_003246 NP_003237 P07996 TSP1_HUMAN Homo sapiens thrombospondin 1 (THBS1), mRNA. 967 TSP C-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) CTCTGGACCCCAAAGGGACAT 0.502000 29 35 8.4185e-14 8.49868e-14 1 1 0 ARID1B 57492 broad.mit.edu 37 6 157517341 157517341 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:157517341C>T uc003qqp.3 + 14 3866 c.3866C>T c.(3865-3867)cCc>cTc p.P1289L ARID1B_uc003qqo.3_Missense_Mutation_p.P1302L|ARID1B_uc003qqn.3_Missense_Mutation_p.P1342L NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA. 1289 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity p.Q1289*(1) NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GGACAGATGCCCAACAGCAGC 0.493000 17 56 0 0 1 0 0 CSDC2 27254 broad.mit.edu 37 22 41969756 41969756 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr22:41969756G>A uc003bak.1 + 2 571 c.274G>A c.(274-276)Gag>Aag p.E92K NM_014460 NP_055275 Q9Y534 CSDC2_HUMAN Homo sapiens cold shock domain containing C2, RNA binding (CSDC2), mRNA. 92 CSD. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|RNA binding|protein binding prostate(2)|upper_aerodigestive_tract(1) 3 GAACGGGTCCGAGGACATCTT 0.607000 45 37 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110835351 110835351 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr13:110835351G>A uc001vqw.4 - 27 2206 c.2084C>T c.(2083-2085)cCc>cTc p.P695L NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 695 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) TTTGGGGCCGGGGGGCCCTGG 0.612000 0 10 0 0 1 0 0 RASIP1 54922 broad.mit.edu 37 19 49232749 49232750 + Missense_Mutation DNP GG AA AA TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:49232749_49232750GG>AA uc002pki.3 - 4 1474_1475 c.1277_1278CC>TT c.(1276-1278)acc>aTT p.T426I NM_017805 NP_060275 Q5U651 RAIN_HUMAN Homo sapiens Ras interacting protein 1 (RASIP1), mRNA. 426 signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 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;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) CGTTGAGGAAGGTGTCCACATA 0.693000 5 3 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40069005 40069005 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr22:40069005C>T uc003ayc.3 + 27 4701 c.4701C>T c.(4699-4701)acC>acT p.T1567T CACNA1I_uc003ayd.3_Silent_p.T1532T|CACNA1I_uc003aye.3_Silent_p.T1482T|CACNA1I_uc003ayf.3_Silent_p.T1447T NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA. 1567 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding p.A1567>?(1) 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) TGGGCATCACCCTGGAGGAGA 0.607000 32 21 0 0 1 0 0 ZMYM1 79830 broad.mit.edu 37 1 35579104 35579104 + Missense_Mutation SNP T A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:35579104T>A uc001bym.3 + 9 1819 c.1673T>A c.(1672-1674)aTt>aAt p.I558N ZMYM1_uc001byn.3_Missense_Mutation_p.I558N|ZMYM1_uc010ohu.2_Missense_Mutation_p.I539N|ZMYM1_uc001byo.3_Missense_Mutation_p.I198N|ZMYM1_uc009vut.3_Missense_Mutation_p.I483N NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA. 558 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AAGCTTATAATTGAAAATATT 0.318000 62 24 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16034811 16034811 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:16034811C>T uc002nbu.2 - 6 765 c.729G>A c.(727-729)acG>acA p.T243T CYP4F11_uc010eab.1_Silent_p.T243T|CYP4F11_uc002nbt.2_Silent_p.T243T NM_001128932 NP_067010 Q9HBI6 CP4FB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA. 243 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 ACAGGAAGTCCGTGTGCAAGA 0.542000 58 50 0 0 1 0 0 FOXR2 139628 broad.mit.edu 37 X 55650469 55650469 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chrX:55650469C>T uc004duo.3 + 0 637 c.325C>T c.(325-327)Cct>Tct p.P109S NM_198451 NP_940853 Q6PJQ5 FOXR2_HUMAN Homo sapiens forkhead box R2 (FOXR2), mRNA. 109 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.S108F(1) biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 AAACATTTCTCCTTTCCCTCA 0.532000 3 20 0 0 1 0 0 KIAA0284 283638 broad.mit.edu 37 14 105349419 105349419 + Missense_Mutation SNP C G G TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr14:105349419C>G uc001yps.3 + 6 721 c.415C>G c.(415-417)Cgc>Ggc p.R139G KIAA0284_uc010axb.3_Missense_Mutation_p.R139G NM_015005 NP_055820 Q9Y4F5 K0284_HUMAN Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA. 209 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1) 14 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.178) CCACGGCTTCCGCGCCCCTGC 0.687000 8 5 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 100221563 100221563 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:100221563G>A uc001pga.3 + 23 3665 c.3161G>A c.(3160-3162)gGa>gAa p.G1054E CNTN5_uc021qpb.1_Missense_Mutation_p.G1054E|CNTN5_uc021qpc.1_Missense_Mutation_p.G980E|CNTN5_uc010ruk.2_Missense_Mutation_p.G325E NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 1054 Fibronectin type-III 4. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GGAGGAGATGGAACAGCTAGT 0.383000 35 28 0 0 1 0 0 AQP10 89872 broad.mit.edu 37 1 154295826 154295826 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:154295826C>T uc001feu.3 + 3 520 c.480C>T c.(478-480)ttC>ttT p.F160F ATP8B2_uc001few.3_5'Flank NM_080429 NP_536354 Q96PS8 AQP10_HUMAN Homo sapiens aquaporin 10 (AQP10), mRNA. 160 response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1) 23 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) ACAATGGCTTCCTGGATCAGG 0.552000 76 49 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124399788 124399788 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:124399788C>T uc001lgk.1 + 51 6894 c.6788C>T c.(6787-6789)tCa>tTa p.S2263L DMBT1_uc001lgl.1_Missense_Mutation_p.S2253L|DMBT1_uc001lgm.1_Missense_Mutation_p.S1635L|DMBT1_uc021qaf.1_Missense_Mutation_p.S2263L|DMBT1_uc021qag.1_Missense_Mutation_p.S2253L|DMBT1_uc021qah.1_Missense_Mutation_p.S1635L|DMBT1_uc009xzz.1_Missense_Mutation_p.S2262L|DMBT1_uc010qtx.1_Missense_Mutation_p.S983L|DMBT1_uc009yab.1_Missense_Mutation_p.S966L|DMBT1_uc009yac.1_Missense_Mutation_p.S557L NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 2263 ZP. 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) TATACTTCCTCATCTTTCTTG 0.458000 58 62 0 0 1 0 0 MAMDC2 256691 broad.mit.edu 37 9 72723251 72723251 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr9:72723251G>A uc004ahm.2 + 2 890 c.273G>A c.(271-273)tcG>tcA p.S91S MAMDC2_uc004ahn.2_Non-coding_Transcript NM_153267 NP_694999 Q7Z304 MAMC2_HUMAN Homo sapiens MAM domain containing 2 (MAMDC2), mRNA. 91 MAM 1. endoplasmic reticulum|membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 14 CCACATCTTCGGAGTCTCTGT 0.502000 31 21 0 0 1 0 0 OR13F1 138805 broad.mit.edu 37 9 107266829 107266830 + Missense_Mutation DNP GG AA AA TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr9:107266829_107266830GG>AA uc011lvm.2 + 0 286_287 c.286_287GG>AA c.(286-288)ggg>AAg p.G96K NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA. 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TTCATTCTCAGGGTGCGCCACT 0.530000 5 11 0 0 1 0 0 OXSR1 9943 broad.mit.edu 37 3 38291485 38291485 + Nonsense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:38291485C>T uc003chy.3 + 14 1693 c.1351C>T c.(1351-1353)Cga>Tga p.R451* OXSR1_uc010hhb.3_Nonsense_Mutation_p.R385* NM_005109 NP_005100 O95747 OXSR1_HUMAN Homo sapiens oxidative-stress responsive 1 (OXSR1), mRNA. 451 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) AAATGATATTCGATTTGAATT 0.308000 21 11 0 0 1 0 0 WDR27 253769 broad.mit.edu 37 6 170033160 170033160 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:170033160G>A uc003qwx.3 - 20 2626 c.2106C>T c.(2104-2106)atC>atT p.I702I WDR27_uc003qwv.2_Non-coding_Transcript|WDR27_uc021zio.1_Silent_p.I702I|WDR27_uc003qwy.3_Silent_p.I575I NM_182552 NP_872358 A2RRH5 WDR27_HUMAN Homo sapiens WD repeat domain 27 (WDR27), transcript variant 1, mRNA. 672 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) CTGCGAGTACGATGTCTGCGA 0.522000 9 5 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19666682 19666682 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr21:19666682G>A uc002ykw.3 - 20 2422 c.2391C>T c.(2389-2391)ccC>ccT p.P797P NM_002772 NP_002763 P98073 ENTK_HUMAN Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA. 797 Peptidase S1. 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 CCACAACCCAGGGCCAGGCCC 0.527000 79 57 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164783091 164783091 + Nonsense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:164783091C>T uc003fei.3 - 6 828 c.765G>A c.(763-765)tgG>tgA p.W255* NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 255 Isomaltase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GCCATGTTTTCCAGGATAAAT 0.338000 HNSCC(35;0.089) 43 27 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10304276 10304276 + Splice_Site SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr17:10304276C>T uc002gmm.2 - 26 3350 c.3255_splice c.e26-1 p.K1085_splice AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1085 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CAAATTCTTTCCTTTAGACAG 0.333000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 7 26 0 0 1 0 0 FAM13B 51306 broad.mit.edu 37 5 137284658 137284658 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:137284658G>A uc003lbz.2 - 16 2614 c.2080C>T c.(2080-2082)Cca>Tca p.P694S FAM13B_uc003lcb.2_Missense_Mutation_p.P598S|FAM13B_uc003lca.2_Missense_Mutation_p.P694S NM_016603 NP_057687 Q9NYF5 FA13B_HUMAN Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA. 694 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(4)|kidney(2)|lung(5) 11 ATATCTTCTGGAAGACACCTC 0.358000 57 40 0 0 1 0 0 SUSD4 55061 broad.mit.edu 37 1 223400943 223400943 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:223400943G>A uc001hnx.3 - 5 1688 c.1054C>T c.(1054-1056)Ccc>Tcc p.P352S SUSD4_uc001hny.4_Missense_Mutation_p.P352S|SUSD4_uc010puw.2_Missense_Mutation_p.P192S NM_017982 NP_060452 Q5VX71 SUSD4_HUMAN Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA. 352 integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) GACCTGGGGGGAAAGTGGGCC 0.547000 17 13 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14517794 14517794 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr7:14517794G>A uc003ssz.3 - 19 2017 c.1830C>T c.(1828-1830)ttC>ttT p.F610F DGKB_uc011jxt.2_Silent_p.F591F|DGKB_uc003sta.3_Silent_p.F610F|DGKB_uc011jxu.2_Silent_p.F609F NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA. 610 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) ACCTACTGTTGAATTTCTCTG 0.343000 4 6 0 0 1 0 0 PGM2L1 283209 broad.mit.edu 37 11 74058272 74058272 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:74058272G>A uc001ovb.1 - 6 1156 c.860C>T c.(859-861)cCa>cTa p.P287L NM_173582 NP_775853 Q6PCE3 PGM2L_HUMAN Homo sapiens phosphoglucomutase 2-like 1 (PGM2L1), mRNA. 287 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(11;3.32e-06) TTCTGGTACTGGAATTGGAGG 0.378000 27 24 0 0 1 0 0 ECHDC3 79746 broad.mit.edu 37 10 11789463 11789463 + Missense_Mutation SNP A G G TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:11789463A>G uc001ikw.4 + 1 506 c.286A>G c.(286-288)Atc>Gtc p.I96V ECHDC3_uc009xix.3_5'UTR NM_024693 NP_078969 Q96DC8 ECHD3_HUMAN Homo sapiens enoyl CoA hydratase domain containing 3 (ECHDC3), nuclear gene encoding mitochondrial protein, mRNA. 96 mitochondrion catalytic activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1) 4 AGTCATTATCATCTCGGGTAT 0.438000 75 57 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76752615 76752615 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr18:76752615G>A uc002lmt.3 + 1 624 c.624G>A c.(622-624)caG>caA p.Q208Q SALL3_uc010dra.3_5'Flank NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA. 208 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) TCCTGGAACAGCTCATGGCCC 0.721000 4 4 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70966482 70966482 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:70966482G>A uc003pfg.4 - 20 1651 c.1492C>T c.(1492-1494)Cct>Tct p.P498S COL9A1_uc003pfe.4_Missense_Mutation_p.P71S|COL9A1_uc003pff.4_Missense_Mutation_p.P255S NM_001851 NP_001842 P20849 CO9A1_HUMAN Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA. 498 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 GGTGCACCAGGAAGACCCTGA 0.403000 23 8 0 0 1 0 0 ZNF507 22847 broad.mit.edu 37 19 32843887 32843887 + Silent SNP T C C TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:32843887T>C uc002nte.3 + 2 423 c.151T>C c.(151-153)Tta>Cta p.L51L ZNF507_uc002ntc.2_Silent_p.L51L|ZNF507_uc010xrn.1_Silent_p.L51L|ZNF507_uc002ntd.3_Silent_p.L51L NM_001136156 NP_055725 Q8TCN5 ZN507_HUMAN Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA. 51 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) TATCCAGAAGTTAAGCAAGAT 0.373000 39 36 0 0 1 0 0 CD53 963 broad.mit.edu 37 1 111439345 111439345 + Missense_Mutation SNP G A A rs150734121 byFrequency TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:111439345G>A uc001dzw.3 + 6 665 c.494G>A c.(493-495)cGa>cAa p.R165Q CD53_uc001dzx.3_Missense_Mutation_p.R165Q|CD53_uc010owa.2_Intron NM_001040033 NP_001035122 P19397 CD53_HUMAN Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA. 165 signal transduction integral to membrane|plasma membrane p.R165Q(2)|p.R165*(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6) 17 all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144) CCCTCAGATCGAAAAGTGGAG 0.443000 51 30 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117128028 117128028 + Missense_Mutation SNP T A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:117128028T>A uc003pxj.1 - 2 862 c.840A>T c.(838-840)caA>caT p.Q280H GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.Q280H NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA. 280 response to amino acid stimulus G-protein coupled receptor activity p.Q280*(1) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) AAACATGGAATTGCCTCAGAA 0.353000 57 43 0 0 1 0 0 KRTAP5-8 57830 broad.mit.edu 37 11 71249595 71249595 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:71249595C>T uc001oqr.1 + 0 525 c.494C>T c.(493-495)tCc>tTc p.S165F NM_021046 NP_066384 O75690 KRA58_HUMAN Homo sapiens keratin associated protein 5-8 (KRTAP5-8), mRNA. 165 9 X 4 AA repeats of C-C-X-P. extracellular region|keratin filament structural constituent of epidermis cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1) 6 TGCTGCCAGTCCAGCTGCTGC 0.597000 131 92 0 0 1 0 0 PGAM4 441531 broad.mit.edu 37 X 77224665 77224665 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chrX:77224665C>T uc004ecy.1 - 0 471 c.471G>A c.(469-471)aaG>aaA p.K157K ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.4_Intron NM_001029891 NP_001025062 Q8N0Y7 PGAM4_HUMAN Homo sapiens phosphoglycerate mutase family member 4 (PGAM4), mRNA. 157 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity endometrium(2)|lung(4) 6 CAATAGTATCCTTCGGACTCT 0.517000 8 75 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19651322 19651322 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr21:19651322C>T uc002ykw.3 - 22 2754 c.2723G>A c.(2722-2724)aGa>aAa p.R908K NM_002772 NP_002763 P98073 ENTK_HUMAN Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA. 908 Peptidase S1. 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 AGAACAATTTCTTCCTGGAGG 0.323000 13 8 0 0 1 0 0 OR2G6 391211 broad.mit.edu 37 1 248685704 248685704 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:248685704G>A uc001ien.1 + 0 757 c.757G>A c.(757-759)Ggg>Agg p.G253R NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA. 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 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) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CATTTTCTATGGGACCATCAT 0.438000 68 44 0 0 1 0 0 ZNF727 442319 broad.mit.edu 37 7 63538926 63538926 + Splice_Site SNP A T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr7:63538926A>T uc011kdm.2 + 4 1679 c.1500_splice c.e4+1 p.*500_splice NM_001159522 NP_001152994 A8MUV8 ZN727_HUMAN Homo sapiens zinc finger protein 727 (ZNF727), mRNA. 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1) 8 AACATAAGGTAATTCATACTG 0.378000 9 7 0 0 1 0 0 SLC4A9 83697 broad.mit.edu 37 5 139739896 139739896 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:139739896G>A uc003lfm.2 + 0 110 c.75G>A c.(73-75)ctG>ctA p.L25L SLC4A9_uc003lfj.2_Silent_p.L25L|SLC4A9_uc011czg.1_Silent_p.L25L|SLC4A9_uc003lfl.2_Silent_p.L25L|SLC4A9_uc003lfk.2_Silent_p.L25L NM_031467 NP_113655 Q96Q91 B3A4_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 9 (SLC4A9), mRNA. 25 integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGGGAGCTGGACAGCAACC 0.562000 10 12 0 0 1 0 0 PHF21B 112885 broad.mit.edu 37 22 45289408 45289408 + Nonsense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr22:45289408G>A uc003bfn.3 - 6 1040 c.889C>T c.(889-891)Cag>Tag p.Q297* PHF21B_uc011aqk.2_Nonsense_Mutation_p.Q243*|PHF21B_uc003bfm.3_Nonsense_Mutation_p.Q93*|PHF21B_uc011aql.2_Nonsense_Mutation_p.Q255*|PHF21B_uc011aqm.1_Nonsense_Mutation_p.Q243* NM_138415 NP_612424 Q96EK2 PF21B_HUMAN Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA. 297 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) CGCTTGCTCTGGATTTCTGGA 0.622000 2 2 0 0 1 0 0 HSFY1P1 27437 broad.mit.edu 37 22 17309905 17309905 + RNA SNP T C C TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr22:17309905T>C uc010gqr.1 + 1 c.1061T>C Homo sapiens heat shock transcription factor, Y-linked 1 pseudogene 1 (HSFY1P1), non-coding RNA. TCTCCCTCCTTTGGGGCTGAT 0.448000 2 11 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 117963012 117963012 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr12:117963012G>A uc001two.2 - 13 1832 c.1777C>T c.(1777-1779)Cat>Tat p.H593Y NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 622 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCCTCATCATGGACCTCTTCA 0.602000 7 10 0 0 1 0 0 MRI1 84245 broad.mit.edu 37 19 13876864 13876864 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:13876864C>T uc002mxe.3 + 2 534 c.468C>T c.(466-468)gcC>gcT p.A156A MRI1_uc002mxf.3_Intron NM_001031727 NP_001026897 Q9BV20 MTNA_HUMAN Homo sapiens methylthioribose-1-phosphate isomerase homolog (S. cerevisiae) (MRI1), transcript variant 1, mRNA. 156 L-methionine salvage from methylthioadenosine cell projection|cytoplasm|nucleus S-methyl-5-thioribose-1-phosphate isomerase activity|identical protein binding breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 6 AGCGGGTGGCCCCCAGCGGTG 0.632000 29 12 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94069764 94069764 + Splice_Site SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr14:94069764C>T uc001ybv.1 + 23 3306 c.3223_splice c.e23+1 p.P1075_splice UNC79_uc001ybs.1_Splice_Site_p.R1075_splice NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 1252 integral to membrane p.P1252S(1)|p.R1075*(1) breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CTCCAAAATTCGTTGAGTATC 0.473000 3 29 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78774080 78774080 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr9:78774080G>A uc004akc.2 + 11 2150 c.1612G>A c.(1612-1614)Gcc>Acc p.A538T PCSK5_uc004ajy.2_Missense_Mutation_p.A538T|PCSK5_uc004ajz.3_Missense_Mutation_p.A538T|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. 538 Homo B/P. 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 TCAGCTTTTGGCCAACAGGTA 0.567000 32 14 0 0 1 0 0 RBBP6 5930 broad.mit.edu 37 16 24583226 24583226 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr16:24583226G>A uc002dmh.3 + 17 5879 c.4839G>A c.(4837-4839)aaG>aaA p.K1613K RBBP6_uc002dmi.3_Silent_p.K1579K|RBBP6_uc010bxr.3_Silent_p.K773K|RBBP6_uc002dmk.3_Silent_p.K1446K NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA. 1613 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) GTACTGTCAAGCCTAAACCCC 0.388000 48 37 0 0 1 0 0 ARGLU1 55082 broad.mit.edu 37 13 107211953 107211953 + Missense_Mutation SNP C G G TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr13:107211953C>G uc001vqk.4 - 1 647 c.400G>C c.(400-402)Gta>Cta p.V134L ARGLU1_uc010age.1_5'UTR NM_018011 NP_060481 Q9NWB6 ARGL1_HUMAN Homo sapiens arginine and glutamate rich 1 (ARGLU1), mRNA. 134 Glu-rich. large_intestine(1)|lung(5)|pancreas(1) 7 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) AATTCTTCTACTCTTCGTGCT 0.393000 33 50 0 0 1 0 0 GPR87 53836 broad.mit.edu 37 3 151012015 151012015 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:151012015G>A uc003eyt.2 - 2 1380 c.1019C>T c.(1018-1020)tCa>tTa p.S340L MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron NM_023915 NP_076404 Q9BY21 GPR87_HUMAN Homo sapiens G protein-coupled receptor 87 (GPR87), mRNA. 340 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 19 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ACTTTGCAGTGATCTGATGCT 0.353000 89 75 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115754795 115754795 + Missense_Mutation SNP A G G TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr4:115754795A>G uc003ibu.3 - 11 3042 c.2363T>C c.(2362-2364)gTt>gCt p.V788A NDST4_uc010imw.3_Non-coding_Transcript NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 788 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) ACGAGGTGTAACTCCCAGAAA 0.388000 31 25 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38793882 38793882 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:38793882C>T uc003ciq.3 - 10 1583 c.1583G>A c.(1582-1584)gGa>gAa p.G528E NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 528 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) TTCGTGGTCTCCAGGAAAGAC 0.607000 44 24 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70891709 70891709 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr16:70891709G>A uc002ezr.3 - 71 12342 c.12191C>T c.(12190-12192)cCc>cTc p.P4064L HYDIN_uc010cfy.3_Non-coding_Transcript NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 4065 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) GTTGTGCTCGGGAATTAGGAA 0.463000 14 17 0 0 1 0 0 BLM 641 broad.mit.edu 37 15 91308570 91308570 + Missense_Mutation SNP C T T rs146077918 byFrequency TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr15:91308570C>T uc002bpr.3 + 8 2216 c.2119C>T c.(2119-2121)Cct>Tct p.P707S BLM_uc010uqh.2_Missense_Mutation_p.P707S|BLM_uc010uqi.2_Missense_Mutation_p.P332S|BLM_uc010bnx.3_Missense_Mutation_p.P707S NM_000057 NP_000048 P54132 BLM_HUMAN Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA. 707 Helicase ATP-binding. G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray PML body|cytoplasm|lateral element|nuclear matrix|nucleolus ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) CTGTGTTTCTCCTGGGGTCAC 0.393000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 48 29 0 0 1 0 0 KIAA2026 158358 broad.mit.edu 37 9 5923268 5923268 + Missense_Mutation SNP T C C TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr9:5923268T>C uc003zjq.4 - 7 2944 c.2728A>G c.(2728-2730)Agc>Ggc p.S910G KIAA2026_uc010mht.3_Missense_Mutation_p.S85G NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN Homo sapiens KIAA2026 (KIAA2026), mRNA. 910 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) AACAGCTTGCTTCTAGCCATA 0.328000 3 28 0 0 1 0 0 PGF 5228 broad.mit.edu 37 14 75416246 75416246 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr14:75416246G>A uc010ase.2 - 2 651 c.129C>T c.(127-129)ttC>ttT p.F43F PGF_uc001xqz.3_Silent_p.F43F|PGF_uc001xrb.3_Silent_p.F43F|PGF_uc010asf.2_Missense_Mutation_p.S29F NM_001207012 NP_001193941 P49763 PLGF_HUMAN Homo sapiens placental growth factor (PGF), transcript variant 2, mRNA. 43 angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway extracellular region|membrane growth factor activity|heparin binding kidney(1)|large_intestine(3)|lung(3)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(234;0.00668) ACACTTCCTGGAAGGGTACCA 0.652000 1 8 0 0 1 0 0 CD226 10666 broad.mit.edu 37 18 67531570 67531570 + Silent SNP T G G TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr18:67531570T>G uc010dqo.3 - 5 1438 c.991A>C c.(991-993)Aga>Cga p.R331R CD226_uc002lkm.4_Silent_p.R331R|CD226_uc021uli.1_Silent_p.R176R NM_006566 NP_006557 Q15762 CD226_HUMAN Homo sapiens CD226 molecule (CD226), mRNA. 331 cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 24 Esophageal squamous(42;0.129) GTCTTTGGTCTGCGAGAGAAG 0.373000 46 33 0 0 1 0 0 ZFR2 23217 broad.mit.edu 37 19 3821400 3821400 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:3821400C>T uc002lyw.2 - 9 1581 c.1569G>A c.(1567-1569)agG>agA p.R523R ZFR2_uc010xhx.1_Non-coding_Transcript NM_015174 NP_055989 Q9UPR6 ZFR2_HUMAN Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA. 523 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) GCCGCTGCTTCCTCATGCGCT 0.682000 15 10 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9077007 9077007 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:9077007C>T uc002mkp.3 - 2 10643 c.10439G>A c.(10438-10440)gGa>gAa p.G3480E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3481 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 GCTTGTTTTTCCTCCTGAGGG 0.488000 40 15 0 0 1 0 0 USP17L2 377630 broad.mit.edu 37 8 11995636 11995636 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr8:11995636C>T uc003wvc.1 - 0 634 c.634G>A c.(634-636)Ggg>Agg p.G212R LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron NM_201402 NP_958804 Q6R6M4 U17L2_HUMAN Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA. 212 G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 TCTGAAATCCCGTGGCAGTGG 0.512000 19 8 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154159724 154159724 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chrX:154159724G>A uc004fmt.3 - 13 2512 c.2341C>T c.(2341-2343)Cca>Tca p.P781S NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 781 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TCATTTTCTGGAATTGTGGTG 0.408000 8 80 0 0 1 0 0 RSPH4A 345895 broad.mit.edu 37 6 116949433 116949433 + Silent SNP T C C rs143732959 byFrequency TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:116949433T>C uc003pxe.2 + 2 1708 c.1563T>C c.(1561-1563)aaT>aaC p.N521N RSPH4A_uc010kee.2_Silent_p.N521N NM_001010892 NP_001010892 Q5TD94 RSH4A_HUMAN Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA. 521 Glu-rich. cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke p.R520Q(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GTGGGCGAAATAGCTTTGAGG 0.458000 Kartagener syndrome 61 47 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197298087 197298087 + Missense_Mutation SNP A T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:197298087A>T uc002utm.1 - 1 244 c.61T>A c.(61-63)Tac>Aac p.Y21N NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA. 21 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CTCAATGTGTACCGCATCTGG 0.597000 36 29 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108813861 108813861 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:108813861C>T uc003dxl.3 - 6 565 c.478G>A c.(478-480)Gat>Aat p.D160N MORC1_uc011bhn.2_Missense_Mutation_p.D160N NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 160 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding p.D159Y(1) breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TTCTGGGGATCATCTGTGACA 0.313000 19 13 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74506957 74506957 + Missense_Mutation SNP T C C TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:74506957T>C uc001dfy.4 - 6 1850 c.1658A>G c.(1657-1659)aAg>aGg p.K553R LRRIQ3_uc001dfz.4_Intron NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA. 553 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 TAGTTTTTGCTTAACAATCAG 0.313000 36 27 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37707467 37707467 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr9:37707467C>T uc004aag.1 + 2 200 c.156C>T c.(154-156)atC>atT p.I52I FRMPD1_uc004aah.1_Silent_p.I52I NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA. 52 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) AGACCCTCATCCCTGTGCGAC 0.498000 7 41 0 0 1 0 0 TMEM213 155006 broad.mit.edu 37 7 138487772 138487772 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr7:138487772G>A uc010lna.3 + 2 393 c.282G>A c.(280-282)ctG>ctA p.L94L TMEM213_uc010lnb.3_Silent_p.L93L NM_001085429 NP_001078898 A2RRL7 TM213_HUMAN Homo sapiens transmembrane protein 213 (TMEM213), mRNA. 94 integral to membrane breast(1)|endometrium(3)|kidney(1)|lung(1) 6 TGGACAAACTGATGAAGCTGA 0.582000 17 11 0 0 1 0 0 SALL4 57167 broad.mit.edu 37 20 50408016 50408016 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr20:50408016G>A uc002xwh.4 - 1 1107 c.1006C>T c.(1006-1008)Cct>Tct p.P336S SALL4_uc010gii.3_Missense_Mutation_p.P336S|SALL4_uc002xwi.4_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA. 336 transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P336S(2) endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GGGGCCTGAGGAAGCAAAGCG 0.647000 23 19 0 0 1 0 0 GPATCH1 55094 broad.mit.edu 37 19 33608898 33608898 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:33608898C>T uc002nug.1 + 15 2678 c.2364C>T c.(2362-2364)ttC>ttT p.F788F GPATCH1_uc002nuh.1_Silent_p.F165F NM_018025 NP_060495 Q9BRR8 GPTC1_HUMAN Homo sapiens G patch domain containing 1 (GPATCH1), mRNA. 788 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) AGGCCAACTTCCAAAGCTCCC 0.507000 38 32 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 117221504 117221504 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:117221504C>T uc001lcg.3 + 21 3762 c.3376C>T c.(3376-3378)Cgc>Tgc p.R1126C ATRNL1_uc010qsm.2_Missense_Mutation_p.R255C|ATRNL1_uc010qsn.2_Intron NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN Homo sapiens attractin-like 1 (ATRNL1), mRNA. 1126 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) GGAAGATGATCGCCACCATAC 0.313000 27 21 0 0 1 0 0 ADAR 103 broad.mit.edu 37 1 154561920 154561921 + Missense_Mutation DNP CC TT TT TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:154561920_154561921CC>TT uc001ffh.3 - 8 2928_2929 c.2686_2687GG>AA c.(2686-2688)gga>AAa p.G896K ADAR_uc021pag.1_Missense_Mutation_p.G601K|ADAR_uc001ffj.3_Missense_Mutation_p.G851K|ADAR_uc001ffi.3_Missense_Mutation_p.G870K|ADAR_uc001ffk.3_Missense_Mutation_p.G601K NM_001111 NP_001180424 P55265 DSRAD_HUMAN Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA. 896 A to I editase. adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) GAGAGAATCTCCTTTCACACAG 0.450000 33 23 0 0 1 0 0 XAB2 56949 broad.mit.edu 37 19 7687732 7687732 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:7687732C>T uc002mgx.3 - 9 1313 c.1287G>A c.(1285-1287)gtG>gtA p.V429V NM_020196 NP_064581 Q9HCS7 SYF1_HUMAN Homo sapiens XPA binding protein 2 (XAB2), mRNA. 429 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 26 CCAGGTCATCCACCTGCTTGA 0.647000 Direct reversal of damage;Nucleotide excision repair (NER) 16 11 0 0 1 0 0 AFM 173 broad.mit.edu 37 4 74347571 74347571 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr4:74347571C>T uc003hhb.3 + 0 110 c.79C>T c.(79-81)Cgg>Tgg p.R27W NM_001133 NP_001124 P43652 AFAM_HUMAN Homo sapiens afamin (AFM), mRNA. 27 Albumin 1. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CACACAACCTCGGGATATAGG 0.294000 20 15 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109689873 109689873 + Missense_Mutation SNP T C C TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr12:109689873T>C uc001tob.3 + 41 5932 c.5813T>C c.(5812-5814)aTt>aCt p.I1938T ACACB_uc001toc.3_Missense_Mutation_p.I1938T|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.I604T NM_001093 NP_001084 O00763 ACACB_HUMAN Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA. 1938 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation Golgi apparatus|cytosol|endomembrane system|membrane ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GCCATTGGGATTGGGGCCTAC 0.587000 1 10 0 0 1 0 0 OR10H3 26532 broad.mit.edu 37 19 15853149 15853149 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:15853149C>T uc010xoq.2 + 0 947 c.947C>T c.(946-948)tCc>tTc p.S316F NM_013938 NP_039226 O60404 O10H3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA. 316 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CCTCTAAGCTCCTAATGGCCA 0.408000 45 36 0 0 1 0 0 IKZF2 22807 broad.mit.edu 37 2 213872554 213872554 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:213872554C>T uc002vem.3 - 7 1280 c.1111G>A c.(1111-1113)Gaa>Aaa p.E371K IKZF2_uc010fuu.3_Missense_Mutation_p.E226K|IKZF2_uc002vej.3_Missense_Mutation_p.E318K|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.E297K|IKZF2_uc002vel.3_Missense_Mutation_p.E292K|IKZF2_uc010fuw.3_Missense_Mutation_p.E145K|IKZF2_uc010fux.3_Missense_Mutation_p.E145K|IKZF2_uc010fuy.3_Missense_Mutation_p.E299K|IKZF2_uc002ven.3_Missense_Mutation_p.E345K|IKZF2_uc002vei.3_Missense_Mutation_p.E149K NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA. 371 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) TCAGCAGTTTCCCTGCTAATG 0.498000 42 42 0 0 1 0 0 NDST1 3340 broad.mit.edu 37 5 149907734 149907734 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:149907734C>T uc003lsk.4 + 2 1384 c.882C>T c.(880-882)ttC>ttT p.F294F NDST1_uc011dcj.2_Silent_p.F294F|NDST1_uc003lsl.3_Silent_p.F294F NM_001543 NP_001534 P52848 NDST1_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA. 294 Heparan sulfate N-deacetylase 1. heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGCTTGTCTTCGTGGATGCCG 0.607000 57 50 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102515815 102515815 + Missense_Mutation SNP G T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr14:102515815G>T uc001yks.2 + 74 13575 c.13411G>T c.(13411-13413)Gcc>Tcc p.A4471S NM_001376 NP_001367 Q14204 DYHC1_HUMAN Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA. 4471 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 p.A4471A(1) 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 CACGGTGCCTGCCGGCATGAC 0.607000 6 28 3.73988e-18 3.79963e-18 1 1 0 FERMT1 55612 broad.mit.edu 37 20 6068451 6068451 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr20:6068451C>T uc002wmr.3 - 10 2133 c.1344G>A c.(1342-1344)atG>atA p.M448I FERMT1_uc002wmq.3_Missense_Mutation_p.M1I|FERMT1_uc010gbt.3_Missense_Mutation_p.M191I|FERMT1_uc002wms.3_Missense_Mutation_p.M448I NM_017671 NP_060141 Q9BQL6 FERM1_HUMAN Homo sapiens fermitin family member 1 (FERMT1), mRNA. 448 FERM.|PH. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 ACATTTCATTCATACCATCGG 0.393000 58 44 0 0 1 0 0 LRRC32 2615 broad.mit.edu 37 11 76371965 76371965 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:76371965G>A uc001oxq.4 - 2 915 c.672C>T c.(670-672)gaC>gaT p.D224D LRRC32_uc001oxr.4_Silent_p.D224D|LRRC32_uc010rsf.2_Silent_p.D224D NM_005512 NP_005503 Q14392 LRC32_HUMAN Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA. 224 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 TGCAGCTCAGGTCTAGCACCC 0.617000 38 29 0 0 1 0 0 METAP1D 254042 broad.mit.edu 37 2 172935784 172935784 + Silent SNP T C C TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:172935784T>C uc002uhk.3 + 5 763 c.690T>C c.(688-690)atT>atC p.I230I METAP1D_uc010zdw.2_Silent_p.I112I NM_199227 NP_954697 Q6UB28 AMP1D_HUMAN Homo sapiens methionyl aminopeptidase type 1D (mitochondrial) (METAP1D), nuclear gene encoding mitochondrial protein, mRNA. 230 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 TCTCTGTAATTGGAAACACAA 0.443000 27 26 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166234156 166234156 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:166234156G>A uc002udc.3 + 22 4594 c.4304G>A c.(4303-4305)cGa>cAa p.R1435Q SCN2A_uc002udd.3_Missense_Mutation_p.R1435Q|SCN2A_uc002ude.3_Missense_Mutation_p.R1435Q NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 1435 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GTTGATTCACGAAATGTAAGT 0.269000 32 31 0 0 1 0 0 FAM75D1 389763 broad.mit.edu 37 9 84607124 84607125 + Missense_Mutation DNP CC TT TT TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr9:84607124_84607125CC>TT uc004amn.3 + 3 1786_1787 c.1739_1740CC>TT c.(1738-1740)tcc>tTT p.S580F NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA. 580 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 CAGGTGAAGTCCCTGGCTCAAC 0.545000 54 46 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98376456 98376456 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:98376456G>A uc001kmq.3 - 12 2082 c.1954C>T c.(1954-1956)Cgg>Tgg p.R652W PIK3AP1_uc001kmo.3_Missense_Mutation_p.R251W|PIK3AP1_uc001kmp.3_Missense_Mutation_p.R474W|5S_rRNA_uc021pwo.1_5'Flank NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA. 652 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) TCTCTTAGCCGTTTAAGATTT 0.413000 67 44 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13383560 13383560 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:13383560G>A uc003bxv.1 - 21 3111 c.3028C>T c.(3028-3030)Ctt>Ttt p.L1010F NM_024923 NP_079199 Q8TEM1 PO210_HUMAN Homo sapiens nucleoporin 210kDa (NUP210), mRNA. 1010 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) TATTTGGCAAGGAAGGGCTTC 0.562000 33 25 0 0 1 0 0 C15orf23 90417 broad.mit.edu 37 15 40675047 40675047 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr15:40675047C>T uc001zll.3 + 0 126 c.11C>T c.(10-12)cCc>cTc p.P4L C15orf23_uc001zlo.3_Missense_Mutation_p.P4L|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.P4L NM_033286 NP_150628 Q9Y448 T4AF1_HUMAN Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA. 4 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) ATGGCGGCTCCCGAAGCCCCG 0.582000 14 9 0 0 1 0 0 CDK13 8621 broad.mit.edu 37 7 40041513 40041513 + Missense_Mutation SNP C A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr7:40041513C>A uc003thh.4 + 4 2518 c.2236C>A c.(2236-2238)Cca>Aca p.P746T CDK13_uc003thi.4_Missense_Mutation_p.P746T|CDK13_uc011kbf.2_Missense_Mutation_p.P132T NM_003718 NP_003709 Q14004 CDK13_HUMAN Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA. 746 Protein kinase. alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 GGAAGGCTTTCCAATTACAGC 0.338000 49 27 1.1804e-14 1.19353e-14 1 1 0 CHRM2 1129 broad.mit.edu 37 7 136700663 136700663 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr7:136700663G>A uc003vtf.1 + 3 1674 c.1051G>A c.(1051-1053)Ggt>Agt p.G351S CHRM2_uc003vtg.1_Missense_Mutation_p.G351S|CHRM2_uc003vti.1_Missense_Mutation_p.G351S|CHRM2_uc003vtm.1_Missense_Mutation_p.G351S|CHRM2_uc003vtj.1_Missense_Mutation_p.G351S|CHRM2_uc003vtk.1_Missense_Mutation_p.G351S|CHRM2_uc003vtl.1_Missense_Mutation_p.G351S|CHRM2_uc003vtn.1_Missense_Mutation_p.G351S|CHRM2_uc003vto.1_Missense_Mutation_p.G351S|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.G351S NM_001006630 NP_001006633 P08172 ACM2_HUMAN Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA. 351 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) GGGGTCTTCAGGTCAGAATGG 0.463000 66 33 0 0 1 0 0 SLC35B2 347734 broad.mit.edu 37 6 44223293 44223293 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:44223293G>A uc003oxd.3 - 3 585 c.449C>T c.(448-450)aCg>aTg p.T150M SLC35B2_uc011dvt.2_Missense_Mutation_p.T53M|SLC35B2_uc011dvu.2_Missense_Mutation_p.T17M|SLC35B2_uc021yzy.1_5'Flank NM_178148 NP_835361 Q8TB61 S35B2_HUMAN Homo sapiens solute carrier family 35, member B2 (SLC35B2), mRNA. 150 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 15 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CTGCGAGTCCGTAAAGCGCTC 0.592000 96 4 0 0 1 0 0 TCF3 6929 broad.mit.edu 37 19 1625578 1625578 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:1625578G>A uc002ltr.3 - 6 565 c.496C>T c.(496-498)Cta>Tta p.L166L TCF3_uc002ltt.4_Silent_p.L166L|TCF3_uc002ltq.3_Silent_p.L115L|TCF3_uc002lts.1_Silent_p.L82L NM_003200 NP_003191 P15923 TFE2_HUMAN Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) (TCF3), transcript variant 1, mRNA. 166 B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex DNA binding|E-box binding|bHLH transcription factor binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) 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) CGCTCACCTAGGCTGCCGTCT 0.692000 T """PBX1, HLF, TFPT""" pre B-ALL 5 3 0 0 1 0 0 CST8 10047 broad.mit.edu 37 20 23472436 23472436 + Silent SNP C T T rs150145986 TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr20:23472436C>T uc002wth.1 + 1 489 c.132C>T c.(130-132)aaC>aaT p.N44N NM_005492 NP_005483 O60676 CST8_HUMAN Homo sapiens cystatin 8 (cystatin-related epididymal specific) (CST8), mRNA. 44 extracellular region cysteine-type endopeptidase inhibitor activity p.A43A(1) breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2) 16 Colorectal(13;0.0431)|Lung NSC(19;0.235) CAAATGCCAACGTGAAGCAGT 0.507000 70 52 0 0 1 0 0 FLRT1 23769 broad.mit.edu 37 11 63884924 63884924 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:63884924G>A uc021qks.1 + 0 1185 c.1185G>A c.(1183-1185)acG>acA p.T395T MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Silent_p.T395T NM_013280 NP_037412 Q9NZU1 FLRT1_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA. 367 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1) 14 CCAAGACCACGGCCAGCAACC 0.642000 25 22 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42679998 42679998 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr20:42679998G>A uc010ggo.3 + 3 504 c.464G>A c.(463-465)gGg>gAg p.G155E TOX2_uc002xle.4_Missense_Mutation_p.G113E|TOX2_uc010ggp.3_Missense_Mutation_p.G113E|TOX2_uc002xlf.4_Missense_Mutation_p.G164E|TOX2_uc010zwk.2_Missense_Mutation_p.G33E NM_001098797 NP_116272 Q96NM4 TOX2_HUMAN Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA. 164 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) GGCCGGCCCGGGCCCCTGCTG 0.642000 25 24 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130412058 130412058 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chrX:130412058C>T uc004ewe.4 - 12 2390 c.2107G>A c.(2107-2109)Gaa>Aaa p.E703K IGSF1_uc004ewd.3_Missense_Mutation_p.E698K|IGSF1_uc022cdv.1_Missense_Mutation_p.E689K|IGSF1_uc004ewf.2_Missense_Mutation_p.E678K NM_001170961 NP_001164432 Q8N6C5 IGSF1_HUMAN Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA. 698 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 AGTTGTAGTTCCTGGCCCCGG 0.527000 8 39 0 0 1 0 0 ZNF236 7776 broad.mit.edu 37 18 74672778 74672778 + Nonsense_Mutation SNP A T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr18:74672778A>T uc002lmi.3 + 29 5578 c.5380A>T c.(5380-5382)Aag>Tag p.K1794* ZNF236_uc002lmj.3_Non-coding_Transcript NM_007345 NP_031371 Q9UL36 ZN236_HUMAN Homo sapiens zinc finger protein 236 (ZNF236), mRNA. 1794 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GAGCAACATGAAGCTGCACAT 0.602000 5 40 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92086197 92086197 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:92086197G>A uc001pdj.4 + 0 936 c.919G>A c.(919-921)Gat>Aat p.D307N NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 307 Cadherin 3. 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) TGTGGCTGGGGATCCTTTAGA 0.448000 TCGA Ovarian(4;0.039) 30 28 0 0 1 0 0 TAS2R40 259286 broad.mit.edu 37 7 142920098 142920098 + Silent SNP G A A rs76255203 by1000genomes TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr7:142920098G>A uc011ksx.2 + 0 927 c.927G>A c.(925-927)cgG>cgA p.R309R NM_176882 NP_795363 P59535 T2R40_HUMAN Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA. 309 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 Melanoma(164;0.059) CCTGGAAGCGGTTTCAGCACC 0.537000 41 27 0 0 1 0 0 RUSC2 9853 broad.mit.edu 37 9 35547211 35547211 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr9:35547211C>T uc003zww.3 + 1 948 c.693C>T c.(691-693)ctC>ctT p.L231L RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Silent_p.L231L NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA. 231 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) AATGGAAGCTCAGTTCAGATG 0.592000 7 36 0 0 1 0 0 MIB2 142678 broad.mit.edu 37 1 1560740 1560740 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:1560740C>T uc001agg.3 + 6 1186 c.1141C>T c.(1141-1143)Ctg>Ttg p.L381L MIB2_uc001agh.3_Silent_p.L367L|MIB2_uc001agi.3_Silent_p.L381L|MIB2_uc001agj.3_Silent_p.L165L|MIB2_uc001agk.3_Silent_p.L316L|MIB2_uc001agl.2_Silent_p.L280L|MIB2_uc001agm.3_Silent_p.L201L|MIB2_uc010nyq.2_Silent_p.L280L|MIB2_uc009vkh.3_Silent_p.L165L|MIB2_uc001agn.3_5'UTR NM_080875 NP_543151 Q96AX9 MIB2_HUMAN Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA. 324 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GGTCAAGTGTCTGCTGGACAC 0.692000 5 4 0 0 1 0 0 ZDHHC17 23390 broad.mit.edu 37 12 77216280 77216280 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr12:77216280C>T uc001syk.1 + 7 1029 c.866C>T c.(865-867)cCg>cTg p.P289L ZDHHC17_uc001syi.1_Non-coding_Transcript|ZDHHC17_uc001syj.2_Non-coding_Transcript NM_015336 NP_056151 Q8IUH5 ZDH17_HUMAN Homo sapiens zinc finger, DHHC-type containing 17 (ZDHHC17), mRNA. 289 lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14) 23 TATGACAATCCGTCCTTCCTT 0.393000 13 11 0 0 1 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58563908 58563908 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:58563908G>A uc002qrc.1 + 4 763 c.516G>A c.(514-516)gaG>gaA p.E172E NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA. 172 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CACTCCCCGAGGAAAGTGAGT 0.647000 27 15 0 0 1 0 0 SLC22A7 10864 broad.mit.edu 37 6 43271917 43271917 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:43271917C>T uc021yzt.1 + 9 1626 c.1527C>T c.(1525-1527)gcC>gcT p.A509A SLC22A7_uc003ous.3_Silent_p.A507A|SLC22A7_uc003out.3_Silent_p.A507A NM_153320 NP_696961 Q9Y694 S22A7_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA. 509 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity p.A509T(1) NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) CCGGCACCGCCCTCCTGCTGC 0.627000 41 40 0 0 1 0 0 MTO1 25821 broad.mit.edu 37 6 74183275 74183275 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:74183275C>T uc010kav.3 + 3 847 c.723C>T c.(721-723)ccC>ccT p.P241P MTO1_uc003pgy.4_Silent_p.P241P|MTO1_uc003pgz.4_Silent_p.P241P|MTO1_uc003pha.4_Intron|MTO1_uc003phb.4_Silent_p.P167P NM_001123226 NP_001116698 Q9Y2Z2 MTO1_HUMAN Homo sapiens mitochondrial translation optimization 1 homolog (S. cerevisiae) (MTO1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 241 tRNA processing mitochondrion flavin adenine dinucleotide binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1) 27 GGACTCCACCCCGAATTGCCA 0.448000 40 31 0 0 1 0 0 OR2T12 127064 broad.mit.edu 37 1 248458129 248458129 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:248458129C>T uc010pzj.2 - 0 752 c.752G>A c.(751-753)gGa>gAa p.G251E NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA. 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 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;0.0201) AATGCCAGCTCCATAAAAGAG 0.488000 57 48 0 0 1 0 0 DGAT1 8694 broad.mit.edu 37 8 145542017 145542017 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr8:145542017G>A uc003zbv.3 - 6 851 c.583C>T c.(583-585)Ctg>Ttg p.L195L NM_012079 NP_036211 O75907 DGAT1_HUMAN Homo sapiens diacylglycerol O-acyltransferase 1 (DGAT1), mRNA. 195 triglyceride biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 9 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;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) AGCGCCAGCAGGGAGCCCACT 0.677000 15 9 0 0 1 0 0 NXPH2 11249 broad.mit.edu 37 2 139429169 139429169 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:139429169G>A uc002tvi.3 - 1 118 c.118C>T c.(118-120)Cca>Tca p.P40S NM_007226 NP_009157 O95156 NXPH2_HUMAN Homo sapiens neurexophilin 2 (NXPH2), mRNA. 40 II. neuropeptide signaling pathway extracellular region endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3) 22 BRCA - Breast invasive adenocarcinoma(221;0.101) AACGTCCCTGGAGCATCTTTG 0.517000 45 44 0 0 1 0 0 SPOCD1 90853 broad.mit.edu 37 1 32259408 32259408 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:32259408G>A uc001bts.1 - 11 2532 c.2474C>T c.(2473-2475)cCt>cTt p.P825L SPOCD1_uc001btr.1_5'Flank|SPOCD1_uc001btu.3_Missense_Mutation_p.P825L|SPOCD1_uc001btv.3_Missense_Mutation_p.P318L|SPOCD1_uc021oks.1_Missense_Mutation_p.P130L NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA. 825 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) AGCAGGCATAGGAGTTTGGCT 0.577000 103 65 0 0 1 0 0 DCDC5 100506627 broad.mit.edu 37 11 30932964 30932964 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:30932964G>A uc009yjk.1 - 15 2070 c.2001C>T c.(1999-2001)acC>acT p.T667T DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Silent_p.T326T NM_020869 NP_065920 Q6ZRR9 DCDC5_HUMAN Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA. 298 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 CAAGGTGAAAGGTCCTTGGGA 0.453000 1 2 0 0 1 0 0 EXOC3 11336 broad.mit.edu 37 5 462334 462334 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:462334C>T uc003jba.3 + 8 1693 c.1565C>T c.(1564-1566)cCg>cTg p.P522L NM_007277 NP_009208 O60645 EXOC3_HUMAN Homo sapiens exocyst complex component 3 (EXOC3), mRNA. 533 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) GGTGTGTCTCCGAGCCAGCCC 0.542000 51 35 0 0 1 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6427486 6427486 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr12:6427486C>T uc001qnr.3 + 10 1323 c.1175C>T c.(1174-1176)aCc>aTc p.T392I PLEKHG6_uc001qns.3_Missense_Mutation_p.T392I|PLEKHG6_uc010sew.2_Missense_Mutation_p.T392I|PLEKHG6_uc010sex.2_Missense_Mutation_p.T360I NM_018173 NP_060643 Q3KR16 PKHG6_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA. 392 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 CCATTCTCCACCCTGGACCTG 0.657000 38 20 0 0 1 0 0 GPR137 56834 broad.mit.edu 37 11 64054478 64054478 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:64054478C>T uc010rni.2 + 3 601 c.573C>T c.(571-573)agC>agT p.S191S BAD_uc001nzd.3_5'Flank|BAD_uc001nzc.3_5'Flank|BAD_uc009ypk.2_5'Flank|GPR137_uc010rnj.2_Silent_p.S133S|GPR137_uc001nze.2_Silent_p.S133S|GPR137_uc001nzf.3_Silent_p.S133S|GPR137_uc001nzh.2_Silent_p.S133S|GPR137_uc001nzi.3_Silent_p.S133S|GPR137_uc021qkt.1_Silent_p.S133S NM_001170726 NP_001164197 Q96N19 G137A_HUMAN Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA. 133 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 CGGAGATGAGCCGAGGCTTGT 0.622000 18 12 0 0 1 0 0 AK022382 0 broad.mit.edu 37 10 52390927 52390927 + RNA SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:52390927C>T uc001jjf.1 + 1 c.1620C>T Homo sapiens cDNA FLJ12320 fis, clone MAMMA1002082. ACGTTGAACTCGGAGGCCGGG 0.587000 7 3 0 0 1 0 0 OR4K2 390431 broad.mit.edu 37 14 20345158 20345158 + Silent SNP C T T rs141738617 TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr14:20345158C>T uc001vwh.1 + 0 732 c.732C>T c.(730-732)ttC>ttT p.F244F NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA. 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F244F(6)|p.H243R(1) 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) CAGCTCATTTCATTGTTGTCT 0.378000 186 64 0 0 1 0 0 OR5B12 390191 broad.mit.edu 37 11 58206981 58206981 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:58206981G>A uc010rkh.2 - 0 666 c.644C>T c.(643-645)tCc>tTc p.S215F NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA. 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S215F(2) large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) AAATAAGTAGGAGATCAAGAT 0.413000 28 31 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76023645 76023645 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:76023645C>T uc010kbe.3 - 5 2442 c.1912G>A c.(1912-1914)Gaa>Aaa p.E638K FILIP1_uc003phy.1_Missense_Mutation_p.E635K|FILIP1_uc003phz.3_Missense_Mutation_p.E536K|FILIP1_uc003pia.3_Missense_Mutation_p.E635K|FILIP1_uc003pib.1_Missense_Mutation_p.E387K NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA. 635 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 CTCTCAATTTCAAGTGTTAGT 0.413000 130 122 0 0 1 0 0 COTL1 23406 broad.mit.edu 37 16 84600451 84600451 + Nonstop_Mutation SNP T G G TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr16:84600451T>G uc002fid.3 - 3 578 c.429A>C c.(427-429)taA>taC p.*143Y NM_021149 NP_066972 Q14019 COTL1_HUMAN Homo sapiens coactosin-like 1 (Dictyostelium) (COTL1), mRNA. 0 cytoplasm|cytoskeleton actin binding|enzyme binding endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1) 6 GGGGCTGGGGTTACTCCGTCT 0.622000 24 9 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7745459 7745459 + Missense_Mutation SNP T A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:7745459T>A uc001ijs.3 + 0 224 c.62T>A c.(61-63)aTc>aAc p.I21N NM_002216 NP_002207 P19823 ITIH2_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA. 21 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.E20K(1) NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GGCTTCGAAATCCCCATAAAT 0.408000 45 30 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35630184 35630184 + Nonsense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr13:35630184G>A uc021rid.1 + 6 1544 c.1010G>A c.(1009-1011)tGg>tAg p.W337* NBEA_uc021ric.1_Nonsense_Mutation_p.W337* NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 337 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TACAATCGATGGAGGAACAGT 0.308000 25 22 0 0 1 0 0 PGBD1 84547 broad.mit.edu 37 6 28269703 28269703 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:28269703G>A uc003nky.3 + 6 2492 c.2072G>A c.(2071-2073)gGg>gAg p.G691E PGBD1_uc003nkz.3_Missense_Mutation_p.G691E NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA. 691 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 CGTTGGTATGGGGATGGCATT 0.388000 100 122 0 0 1 0 0 TRIM71 131405 broad.mit.edu 37 3 32915400 32915400 + Nonsense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:32915400C>T uc003cff.3 + 1 1006 c.943C>T c.(943-945)Cag>Tag p.Q315* NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN Homo sapiens tripartite motif containing 71 (TRIM71), mRNA. 315 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CATCTACCTCCAGGAGGCACT 0.612000 117 90 0 0 1 0 0 CYP2A7 1549 broad.mit.edu 37 19 41388024 41388024 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:41388024C>T uc002opm.3 - 0 634 c.92G>A c.(91-93)gGg>gAg p.G31E CYP2A7_uc002opo.3_Intron|CYP2A7_uc002opn.3_Missense_Mutation_p.G31E NM_000764 NP_000755 P20853 CP2A7_HUMAN Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 7 (CYP2A7), transcript variant 1, mRNA. 31 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) AGGCAGCTTCCCCCTGCTCTT 0.582000 25 29 0 0 1 0 0 OR2L8 391190 broad.mit.edu 37 1 248112339 248112339 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:248112339C>T uc001idt.1 + 0 180 c.180C>T c.(178-180)ttC>ttT p.F60F OR2L13_uc001ids.3_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA. 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 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;0.0152) CCATGTATTTCCTACTGAGTC 0.413000 209 153 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24508588 24508588 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:24508588C>T uc001iru.4 + 1 507 c.104C>T c.(103-105)cCa>cTa p.P35L KIAA1217_uc001irs.3_5'UTR|KIAA1217_uc001irt.4_Missense_Mutation_p.P35L|KIAA1217_uc010qcy.2_Missense_Mutation_p.P35L|KIAA1217_uc010qcz.2_Missense_Mutation_p.P35L NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 35 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GTAACATCACCAGAAGATGCA 0.433000 23 16 0 0 1 0 0 SRC 6714 broad.mit.edu 37 20 36031707 36031707 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr20:36031707C>T uc002xgx.3 + 13 1985 c.1536C>T c.(1534-1536)ttC>ttT p.F512F SRC_uc002xgy.3_Silent_p.F512F|SRC_uc021wdd.1_Non-coding_Transcript NM_005417 NP_938033 P12931 SRC_HUMAN Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) (SRC), transcript variant 1, mRNA. 512 Protein kinase. Ras protein signal transduction|T cell costimulation|axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly caveola|cytosol|mitochondrial inner membrane ATP binding|SH2 domain binding|SH3/SH2 adaptor activity|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) Dasatinib(DB01254) GGCCCACCTTCGAGTACCTGC 0.682000 2 5 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166999063 166999063 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr4:166999063G>A uc003irh.2 + 17 2970 c.2323G>A c.(2323-2325)Gaa>Aaa p.E775K TLL1_uc011cjn.2_Missense_Mutation_p.E798K|TLL1_uc011cjo.2_Missense_Mutation_p.E599K NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 775 CUB 4. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) AGCTGAGTGTGAACAGAAGAT 0.512000 25 13 0 0 1 0 0 PPT2 9374 broad.mit.edu 37 6 32125486 32125486 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:32125486C>T uc003nzw.3 + 5 807 c.632C>T c.(631-633)cCc>cTc p.P211L PPT2_uc003nzx.3_Missense_Mutation_p.P205L|PPT2_uc003nzz.3_Missense_Mutation_p.P205L|PPT2_uc021yvl.1_Missense_Mutation_p.P82L|EGFL8_uc003nzy.2_Non-coding_Transcript|PPT2_uc010jtu.1_Missense_Mutation_p.P205L NM_138717 NP_005146 Q9UMR5 PPT2_HUMAN Homo sapiens palmitoyl-protein thioesterase 2 (PPT2), transcript variant 2, mRNA. 205 protein modification process lysosome palmitoyl-(protein) hydrolase activity NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1) 17 AGAGACCATCCCAATGCCACA 0.517000 30 15 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10940894 10940894 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:10940894C>T uc002mpt.2 + 19 2573 c.2383C>T c.(2383-2385)Cct>Tct p.P795S DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Missense_Mutation_p.P795S|DNM2_uc010dxl.2_Missense_Mutation_p.P795S|DNM2_uc002mpu.2_Missense_Mutation_p.P791S|DNM2_uc002mpv.2_Missense_Mutation_p.P791S|DNM2_uc002mpw.3_Missense_Mutation_p.P524S|DNM2_uc002mpx.1_Missense_Mutation_p.P151S NM_001005360 NP_001005360 P50570 DYN2_HUMAN Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA. 795 Pro-rich. G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) CCCCCTGATTCCTGTTCCCGT 0.701000 """F, N, Splice, Mis, O""" ETP ALL 51 41 0 0 1 0 0 EIF3A 8661 broad.mit.edu 37 10 120801997 120801997 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:120801997G>A uc001ldu.3 - 18 3181 c.3035C>T c.(3034-3036)gCg>gTg p.A1012V EIF3A_uc010qsu.2_Missense_Mutation_p.A978V|EIF3A_uc009xzg.1_Missense_Mutation_p.A51V NM_003750 NP_003741 Q14152 EIF3A_HUMAN Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA. 1012 25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) GTCATCATCCGCATGACGCCA 0.572000 217 18 0 0 1 0 0 PSKH2 85481 broad.mit.edu 37 8 87076754 87076754 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr8:87076754C>T uc011lfy.2 - 1 292 c.292G>A c.(292-294)Gag>Aag p.E98K NM_033126 NP_149117 Q96QS6 KPSH2_HUMAN Homo sapiens protein serine kinase H2 (PSKH2), mRNA. 98 Protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1) 47 STAD - Stomach adenocarcinoma(118;0.129) CCTTCCCTCTCTCTGGTTTCC 0.502000 45 43 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46860045 46860045 + Nonsense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr22:46860045G>A uc003bhw.1 - 1 3742 c.3742C>T c.(3742-3744)Cag>Tag p.Q1248* NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA. 1248 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) GTGTCGTTCTGGACGTTGAAG 0.652000 34 42 0 0 1 0 0 OR3A3 8392 broad.mit.edu 37 17 3324699 3324699 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr17:3324699G>A uc010vrd.2 + 0 838 c.838G>A c.(838-840)Gat>Aat p.D280N NM_012373 NP_036505 P47888 OR3A3_HUMAN Homo sapiens olfactory receptor, family 3, subfamily A, member 3 (OR3A3), mRNA. 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1) 9 TTCAGACAAGGATAAGGGGGT 0.512000 18 61 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26775274 26775274 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr12:26775274G>A uc001rhg.3 - 24 3604 c.3187C>T c.(3187-3189)Cat>Tat p.H1063Y NM_002223 NP_002214 Q14571 ITPR2_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA. 1063 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) ATGATCAGATGAATGAGGACC 0.438000 49 3 0 0 1 0 0 DPP9 91039 broad.mit.edu 37 19 4683502 4683502 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:4683502G>A uc002mba.3 - 18 2576 c.2318C>T c.(2317-2319)cCc>cTc p.P773L LOC100131094_uc021ung.1_Intron NM_139159 NP_631898 Q86TI2 DPP9_HUMAN Homo sapiens dipeptidyl-peptidase 9 (DPP9), mRNA. 744 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) GAACACCTGGGGCTTGTGGAT 0.667000 27 23 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126370225 126370225 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr4:126370225G>A uc003ifj.4 + 8 8054 c.8054G>A c.(8053-8055)cGa>cAa p.R2685Q FAT4_uc011cgp.2_Missense_Mutation_p.R983Q|FAT4_uc003ifi.1_Missense_Mutation_p.R163Q NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 2685 Cadherin 26. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R2685Q(3) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTTTCCCCTCGAAAAATACTT 0.348000 89 63 0 0 1 0 0 OR10K2 391107 broad.mit.edu 37 1 158390349 158390349 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:158390349G>A uc010pii.2 - 0 308 c.308C>T c.(307-309)tCc>tTc p.S103F NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA. 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) GAAGAGGAAGGAAAACATTTG 0.483000 139 5 0 0 1 0 0 UNKL 64718 broad.mit.edu 37 16 1453328 1453328 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr16:1453328C>T uc010brn.2 - 2 318 c.305G>A c.(304-306)cGg>cAg p.R102Q UNKL_uc002clq.3_Missense_Mutation_p.R102Q NM_001193388 NP_001180317 Q9H9P5 UNKL_HUMAN Homo sapiens unkempt homolog (Drosophila)-like (UNKL), transcript variant 1, mRNA. 102 cytoplasm|nucleus ligase activity|nucleic acid binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Hepatocellular(780;0.0893) CCCCGTCGTCCGGTGCAGGTA 0.607000 16 17 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25367199 25367199 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr13:25367199G>A uc001upr.3 + 9 996 c.955G>A c.(955-957)Gaa>Aaa p.E319K RNF17_uc010tdd.1_Missense_Mutation_p.E178K|RNF17_uc010tde.2_Missense_Mutation_p.E319K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.E258K|RNF17_uc001upq.1_Missense_Mutation_p.E319K NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 319 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding p.E319V(1) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CCAAGAAAATGAAATTAGACA 0.328000 51 33 0 0 1 0 0 SLC14A2 8170 broad.mit.edu 37 18 43206999 43206999 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr18:43206999C>T uc002lbe.3 + 3 1224 c.408C>T c.(406-408)ctC>ctT p.L136L SLC14A2_uc002lbb.3_Silent_p.L136L|SLC14A2_uc010dnj.3_Silent_p.L136L NM_007163 NP_009094 Q15849 UT2_HUMAN Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA. 136 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 ACAATCCTCTCAGCGGCCTCA 0.557000 66 63 0 0 1 0 0 GKAP1 80318 broad.mit.edu 37 9 86354657 86354657 + Silent SNP A C C TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr9:86354657A>C uc004amy.3 - 12 1552 c.1056T>G c.(1054-1056)ggT>ggG p.G352G GKAP1_uc004amz.3_Silent_p.G301G NM_025211 NP_079487 Q5VSY0 GKAP1_HUMAN Homo sapiens G kinase anchoring protein 1 (GKAP1), transcript variant 1, mRNA. 352 signal transduction Golgi apparatus p.G352G(2) endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 14 CTTTTCTGCCACCCTGTAAAA 0.343000 14 5 0 0 1 0 0 WDR93 56964 broad.mit.edu 37 15 90245106 90245106 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr15:90245106C>T uc002boj.3 + 1 230 c.129C>T c.(127-129)ctC>ctT p.L43L WDR93_uc002bok.4_Silent_p.L43L|WDR93_uc010bnr.3_Silent_p.L43L NM_020212 NP_064597 Q6P2C0 WDR93_HUMAN Homo sapiens WD repeat domain 93 (WDR93), mRNA. 43 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 33 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) ATCATGTCCTCGTGGATCCAG 0.483000 38 38 0 0 1 0 0 OVCH2 341277 broad.mit.edu 37 11 7721945 7721945 + Nonsense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:7721945G>A uc010rbf.2 - 6 799 c.799C>T c.(799-801)Cga>Tga p.R267* NM_198185 NP_937828 Homo sapiens ovochymase 2 (gene/pseudogene) (OVCH2), mRNA. p.R267P(1) cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2) 15 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) CTCCAGCCTCGACCACAGCCC 0.517000 2 9 0 0 1 0 0 CHST2 9435 broad.mit.edu 37 3 142840604 142840604 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:142840604C>T uc003evm.3 + 1 1885 c.946C>T c.(946-948)Cca>Tca p.P316S CHST2_uc021xex.1_Missense_Mutation_p.P316S NM_004267 NP_004258 Q9Y4C5 CHST2_HUMAN Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA. 316 N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 GGTCTTGGCGCCACTGCTGCG 0.667000 9 11 0 0 1 0 0 SPATA6 54558 broad.mit.edu 37 1 48821391 48821391 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:48821391C>T uc001crr.2 - 10 1341 c.1145G>A c.(1144-1146)cGg>cAg p.R382Q SPATA6_uc001crs.2_Splice_Site_p.R382_splice|SPATA6_uc010omv.2_Missense_Mutation_p.R368Q NM_019073 NP_061946 Q9NWH7 SPAT6_HUMAN Homo sapiens spermatogenesis associated 6 (SPATA6), mRNA. 382 cell differentiation|multicellular organismal development|spermatogenesis extracellular region p.R382W(1) breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 21 ATTTTTTACCCGGTCATGGAT 0.294000 49 12 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6820787 6820787 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:6820787C>T uc002mfu.1 + 1 376 c.279C>T c.(277-279)ctC>ctT p.L93L VAV1_uc010xjh.1_Silent_p.L93L|VAV1_uc010dva.1_Silent_p.L93L|VAV1_uc002mfv.1_Silent_p.L38L NM_005428 NP_005419 P15498 VAV_HUMAN Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA. 93 CH.|Leu-rich. T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 GGAGCGAGCTCTTCGAAGCCT 0.483000 71 47 0 0 1 0 0 C6orf58 352999 broad.mit.edu 37 6 127901503 127901503 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:127901503C>T uc003qbh.3 + 2 494 c.482C>T c.(481-483)cCa>cTa p.P161L NM_001010905 NP_001010905 Q6P5S2 CF058_HUMAN Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA. 161 extracellular region kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1) 15 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) CTTTTGCCCCCACCCAAGAAT 0.423000 49 35 0 0 1 0 0 DRD1 1812 broad.mit.edu 37 5 174868996 174868996 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:174868996C>T uc003mcz.3 - 1 2052 c.1107G>A c.(1105-1107)gcG>gcA p.A369A DRD1_uc021yia.1_Silent_p.A369A NM_000794 NP_000785 P21728 DRD1_HUMAN Homo sapiens dopamine receptor D1 (DRD1), mRNA. 369 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) TGGAAAACATCGCGGCCCCAT 0.498000 56 48 0 0 1 0 0 CPN2 1370 broad.mit.edu 37 3 194062354 194062354 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:194062354G>A uc003fts.3 - 1 1168 c.1078C>T c.(1078-1080)Ctg>Ttg p.L360L CPN2_uc021xix.1_Silent_p.L360L NM_001080513 NP_001073982 P22792 CPN2_HUMAN Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA. 360 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) AGCTTGGACAGGTTCTGGAAG 0.582000 37 32 0 0 1 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806870 97806870 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:97806870C>T uc011bgs.2 + 0 854 c.854C>T c.(853-855)cCc>cTc p.P285L NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA. 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I284F(1) endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 ATTATAATTCCCCTGCTAAAC 0.373000 31 16 0 0 1 0 0 MYLK3 91807 broad.mit.edu 37 16 46744675 46744675 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr16:46744675C>T uc002eei.4 - 10 2257 c.2141G>A c.(2140-2142)gGg>gAg p.G714E MYLK3_uc010vge.2_Missense_Mutation_p.G373E NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA. 714 Protein kinase. cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) ATCTGTTTCCCCTAGAAATGG 0.468000 85 72 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57325238 57325238 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:57325238C>T uc002qnu.2 - 6 4923 c.4572G>A c.(4570-4572)ctG>ctA p.L1524L 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_Silent_p.L1495L|PEG3_uc002qnv.2_Silent_p.L1524L|PEG3_uc002qnw.2_Silent_p.L1400L|PEG3_uc002qnx.2_Silent_p.L1398L|PEG3_uc010etr.2_Silent_p.L1524L NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 1524 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) CATGAGTTTTCAGGTGTTCAC 0.478000 80 51 0 0 1 0 0 TPK1 27010 broad.mit.edu 37 7 144288587 144288587 + Nonsense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr7:144288587G>A uc003weq.3 - 6 533 c.430C>T c.(430-432)Caa>Taa p.Q144* TPK1_uc003weo.3_Intron|TPK1_uc003wep.3_Non-coding_Transcript|TPK1_uc003wer.3_Intron|TPK1_uc003wes.3_Non-coding_Transcript NM_022445 NP_071890 Q9H3S4 TPK1_HUMAN Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant 1, mRNA. 144 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) TGAGTCGCTTGGAACAAGGTA 0.448000 45 45 0 0 1 0 0 MX1 4599 broad.mit.edu 37 21 42821111 42821111 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr21:42821111C>T uc010goq.3 + 11 1667 c.1321C>T c.(1321-1323)Cgt>Tgt p.R441C MX1_uc002yzh.3_Missense_Mutation_p.R441C|MX1_uc002yzi.3_Missense_Mutation_p.R441C NM_001178046 NP_002453 P20591 MX1_HUMAN Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA. 441 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) AAATCAGTATCGTGGTAGAGA 0.373000 36 31 0 0 1 0 0 OTC 5009 broad.mit.edu 37 X 38262970 38262970 + Missense_Mutation SNP C A A rs72558420 TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chrX:38262970C>A uc004def.4 + 5 854 c.640C>A c.(640-642)Cac>Aac p.H214N NM_000531 NP_000522 P00480 OTC_HUMAN Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA. 214 H -> Y (in OTCD; neonatal). arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 L-Citrulline(DB00155)|L-Ornithine(DB00129) ATTCGGAATGCACCTTCAGGC 0.463000 0 32 7.11191e-15 7.2025e-15 1 1 0 U2AF1L4 199746 broad.mit.edu 37 19 36233529 36233529 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:36233529G>A uc002obg.3 - 7 960 c.651C>T c.(649-651)atC>atT p.I217I IGFLR1_uc002obb.3_5'Flank|IGFLR1_uc002obc.3_5'Flank|IGFLR1_uc010xsy.2_5'Flank|IGFLR1_uc002obd.4_5'Flank|IGFLR1_uc010eej.3_Intron|U2AF1L4_uc002obe.3_3'UTR|U2AF1L4_uc002obf.3_Silent_p.I193I|U2AF1L4_uc002obh.1_3'UTR|PSENEN_uc002obi.1_5'Flank|PSENEN_uc002obj.1_5'Flank|PSENEN_uc002obk.1_5'Flank Q8WU68 U2AF4_HUMAN Homo sapiens U2 small nuclear RNA auxiliary factor 1-like 4 (U2AF1L4), transcript variant 1, mRNA. 0 RNA splicing|mRNA processing nuclear speck|spliceosomal complex RNA binding|nucleotide binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 8 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCCTGGGAAGGATGGGGCAGG 0.572000 44 38 0 0 1 0 0 LOXL2 4017 broad.mit.edu 37 8 23155595 23155596 + Missense_Mutation DNP GT AA AA TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr8:23155595_23155596GT>AA uc003xdh.1 - 13 2624_2625 c.2285_2286AC>TT c.(2284-2286)cac>cTT p.H762L LOXL2_uc010lty.1_Missense_Mutation_p.T264F NM_002318 NP_002309 Q9Y4K0 LOXL2_HUMAN Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA. 762 aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) GCCCGCTGAAGTGCTCAAACTT 0.540000 14 9 0 0 1 0 0 ELFN2 114794 broad.mit.edu 37 22 37769984 37769984 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr22:37769984C>T uc003asq.4 - 2 2377 c.1591G>A c.(1591-1593)Gct>Act p.A531T ELFN2_uc021wph.1_Missense_Mutation_p.A531T NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA. 531 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) ATCTCTGCAGCCGAGCCCTGG 0.607000 61 46 0 0 1 0 0 SYTL2 54843 broad.mit.edu 37 11 85407407 85407407 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:85407407C>T uc010rth.2 - 16 2867 c.2478G>A c.(2476-2478)agG>agA p.R826R SYTL2_uc010rtg.2_Silent_p.R827R|SYTL2_uc010rti.2_Silent_p.R802R|SYTL2_uc010rtj.2_Silent_p.R794R|SYTL2_uc001pav.3_Silent_p.R268R|SYTL2_uc010rte.2_Silent_p.R228R|SYTL2_uc001pax.3_Silent_p.R268R|SYTL2_uc001paz.3_Silent_p.R147R|SYTL2_uc001pay.3_Silent_p.R257R|SYTL2_uc001paw.3_Silent_p.R228R|SYTL2_uc009yvj.3_Non-coding_Transcript|SYTL2_uc001pbd.3_Silent_p.R1124R|SYTL2_uc001pbb.3_Silent_p.R1164R|SYTL2_uc001pbc.3_Silent_p.R1148R|SYTL2_uc010rtf.2_Silent_p.R644R NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA. 826 C2 2. intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding p.R827R(1)|p.R1164R(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) GGCGACTTTTCCTACTTGTAT 0.418000 56 48 0 0 1 0 0 OPRD1 4985 broad.mit.edu 37 1 29189433 29189433 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:29189433G>A uc001brf.1 + 2 999 c.757G>A c.(757-759)Gac>Aac p.D253N NM_000911 NP_000902 P41143 OPRD_HUMAN Homo sapiens opioid receptor, delta 1 (OPRD1), mRNA. 253 immune response|protein import into nucleus, translocation integral to plasma membrane delta-opioid receptor activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647) CAAGGAGAAGGACCGCAGCCT 0.642000 18 12 0 0 1 0 0 MEF2B 100271849 broad.mit.edu 37 19 19260221 19260221 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:19260221C>T uc002nlp.2 - 4 799 c.72G>A c.(70-72)cgG>cgA p.R24R MEF2B_uc002nll.2_Silent_p.R24R|MEF2B_uc010xqo.1_Silent_p.R24R|MEF2B_uc010xqp.1_Silent_p.R24R|MEF2B_uc002nlo.2_Silent_p.R24R|MEF2B_uc002nlk.2_Silent_p.R24R NM_005919 NP_005910 Homo sapiens MEF2BNB-MEF2B readthrough (MEF2BNB-MEF2B), transcript variant 1, mRNA. breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412) GCCCGAACTTCCGCTTGGTGA 0.562000 67 4 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50168720 50168720 + Splice_Site SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr15:50168720C>T uc001zxu.3 - 25 2924 c.2782_splice c.e25-1 p.D928_splice ATP8B4_uc010ber.3_Splice_Site_p.D801_splice|ATP8B4_uc010ufd.2_Splice_Site_p.D738_splice|ATP8B4_uc010ufe.2_Splice_Site|ATP8B4_uc001zxt.3_5'UTR NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA. 928 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TCACTCACATCCTGTAAACAG 0.413000 22 26 0 0 1 0 0 LETM1 3954 broad.mit.edu 37 4 1821173 1821173 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr4:1821173G>A uc003gdv.3 - 10 1932 c.1635C>T c.(1633-1635)atC>atT p.I545I NM_012318 NP_036450 O95202 LETM1_HUMAN Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA. 545 cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) TGAGGATGTCGATTTCCTCCT 0.532000 45 38 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111397659 111397659 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr4:111397659G>A uc003iab.4 + 0 431 c.89G>A c.(88-90)gGa>gAa p.G30E NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 30 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) GTGGGTGTAGGATTAATAGTG 0.562000 82 62 0 0 1 0 0 CA3 761 broad.mit.edu 37 8 86354322 86354322 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr8:86354322C>T uc003ydj.3 + 2 336 c.253C>T c.(253-255)Cct>Tct p.P85S CA3_uc011lfv.2_Non-coding_Transcript NM_005181 NP_005172 P07451 CAH3_HUMAN Homo sapiens carbonic anhydrase III, muscle specific (CA3), mRNA. 85 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GGGTCCTCTCCCTGGACCCTA 0.507000 39 28 0 0 1 0 0 AXL 558 broad.mit.edu 37 19 41754497 41754497 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:41754497G>A uc010ehj.3 + 12 1806 c.1616G>A c.(1615-1617)gGg>gAg p.G539E AXL_uc010ehk.3_Missense_Mutation_p.G530E NM_021913 NP_068713 P30530 UFO_HUMAN Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA. 539 Protein kinase. 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 GTGGCCCTGGGGAAGACTCTG 0.562000 31 27 0 0 1 0 0 POTEA 340441 broad.mit.edu 37 8 43147866 43147866 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr8:43147866G>A uc003xpz.1 + 0 282 c.239G>A c.(238-240)aGa>aAa p.R80K POTEA_uc003xqa.1_Missense_Mutation_p.R80K NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA. 80 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GAAGTCCCCAGAGCGGATCTC 0.612000 49 31 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39502952 39502952 + Nonsense_Mutation SNP T A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr8:39502952T>A uc003xni.3 + 10 1060 c.1005T>A c.(1003-1005)tgT>tgA p.C335* ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Nonsense_Mutation_p.C311* NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 335 Peptidase M12B. 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) TCACTCAGTGTTTCTGTCTGA 0.333000 28 20 0 0 1 0 0 TTC9C 283237 broad.mit.edu 37 11 62503008 62503008 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:62503008C>T uc001nux.3 + 2 1044 c.792C>T c.(790-792)ctC>ctT p.L264L TTC9C_uc001nuy.3_Silent_p.L131L NM_173810 NP_776171 Q8N5M4 TTC9C_HUMAN Homo sapiens tetratricopeptide repeat domain 9C (TTC9C), mRNA. 131 binding breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1) 6 GCCACTACCTCCTGGCTGCCG 0.522000 17 14 0 0 1 0 0 OR5B17 219965 broad.mit.edu 37 11 58125899 58125899 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:58125899G>A uc010rke.2 - 0 644 c.644C>T c.(643-645)tCc>tTc p.S215F NM_001005489 NP_001005489 Q8NGF7 OR5BH_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA. 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S215F(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) GAACAGATAGGAAATCAAGGT 0.373000 36 20 0 0 1 0 0 IFNAR2 3455 broad.mit.edu 37 21 34640695 34640695 + Missense_Mutation SNP A G G TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr21:34640695A>G uc002yrl.1 + 0 463 c.52A>G c.(52-54)Ata>Gta p.I18V IFNAR2_uc002yri.1_Intron|IFNAR2_uc002yrh.1_Intron|LOC100288432_uc002yrj.2_5'Flank|IFNAR2_uc002yrk.1_Intron NM_000628 NP_000619 P48551 INAR2_HUMAN Homo sapiens interleukin 10 receptor, beta (IL10RB), mRNA. 0 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) TCTTATTTTCATAGCATTGGG 0.408000 25 13 0 0 1 0 0 ZC3H14 79882 broad.mit.edu 37 14 89068387 89068387 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr14:89068387G>A uc001xww.3 + 10 1699 c.1474G>A c.(1474-1476)Gat>Aat p.D492N ZC3H14_uc010twd.2_Missense_Mutation_p.D492N|ZC3H14_uc010twe.2_Missense_Mutation_p.D492N|ZC3H14_uc001xwx.3_Intron|ZC3H14_uc010twf.2_Intron|ZC3H14_uc001xwy.3_Intron|ZC3H14_uc010twg.2_Intron|ZC3H14_uc001xxa.3_Missense_Mutation_p.D37N|ZC3H14_uc001xxc.3_Intron|ZC3H14_uc001xxb.3_Intron NM_024824 NP_079100 Q6PJT7 ZC3HE_HUMAN Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA. 492 cytoplasm|nuclear speck RNA binding|protein binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 GAAGACTGCAGATTCCCTTCG 0.428000 5 45 0 0 1 0 0 OR10G8 219869 broad.mit.edu 37 11 123900949 123900949 + Missense_Mutation SNP C T T rs150048996 TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:123900949C>T uc001pzp.1 + 0 620 c.620C>T c.(619-621)tCg>tTg p.S207L NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA. 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) ATAGTGGCCTCGGGCTGCTTT 0.532000 77 55 0 0 1 0 0 TPP2 7174 broad.mit.edu 37 13 103301837 103301837 + Splice_Site SNP G T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr13:103301837G>T uc001vpi.4 + 23 3055 c.2952_splice c.e23+1 p.A984_splice NM_003291 NP_003282 P29144 TPP2_HUMAN Homo sapiens tripeptidyl peptidase II (TPP2), mRNA. 984 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AAAGAAAGCTGTAAGTATTAG 0.308000 25 16 6.49762e-13 6.54911e-13 1 1 0 C3orf30 152405 broad.mit.edu 37 3 118865454 118865454 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:118865454G>A uc003ecb.1 + 0 458 c.418G>A c.(418-420)Gaa>Aaa p.E140K IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.E140K NM_152539 NP_689752 Q96M34 CC030_HUMAN Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA. 140 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) CCTGACGGAGGAAAGAACTGC 0.478000 41 21 0 0 1 0 0 OR6K2 81448 broad.mit.edu 37 1 158669557 158669557 + Missense_Mutation SNP T C C TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:158669557T>C uc001fsu.1 - 0 886 c.886A>G c.(886-888)Aaa>Gaa p.K296E NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA. 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) TTTATTTCTTTATTCCTCAGG 0.388000 38 29 0 0 1 0 0 CEP70 80321 broad.mit.edu 37 3 138290150 138290150 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:138290150C>T uc003esl.3 - 3 316 c.118G>A c.(118-120)Ggc>Agc p.G40S CEP70_uc011bmk.2_Missense_Mutation_p.G20S|CEP70_uc011bml.2_Missense_Mutation_p.G22S|CEP70_uc011bmm.2_Intron|CEP70_uc003esm.3_Missense_Mutation_p.G40S|CEP70_uc003esn.3_Missense_Mutation_p.G40S NM_024491 NP_077817 Q8NHQ1 CEP70_HUMAN Homo sapiens centrosomal protein 70kDa (CEP70), mRNA. 40 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 GGTTTTAAGCCATGCATCATC 0.313000 24 13 0 0 1 0 0 PGS1 9489 broad.mit.edu 37 17 76399923 76399923 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr17:76399923C>T uc002jvm.3 + 6 1167 c.1155C>T c.(1153-1155)acC>acT p.T385T PGS1_uc010wtt.2_Non-coding_Transcript|PGS1_uc010dho.3_Non-coding_Transcript|PGS1_uc002jvn.3_Silent_p.T98T|PGS1_uc002jvo.3_Non-coding_Transcript|PGS1_uc002jvp.1_Silent_p.T98T NM_024419 NP_077733 Q32NB8 PGPS1_HUMAN Homo sapiens phosphatidylglycerophosphate synthase 1 (PGS1), mRNA. 385 phospholipid biosynthetic process endoplasmic reticulum|mitochondrion ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031) TCTACCTCACCACTGGCTATT 0.552000 9 42 0 0 1 0 0 CER1 9350 broad.mit.edu 37 9 14722538 14722538 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr9:14722538C>T uc003zlj.3 - 0 178 c.133G>A c.(133-135)Ggc>Agc p.G45S NM_005454 NP_005445 O95813 CER1_HUMAN Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA. 45 BMP signaling pathway extracellular space cytokine activity endometrium(2)|large_intestine(3)|lung(6) 11 GBM - Glioblastoma multiforme(50;3.16e-06) TCATGGTTGCCTGTGGGAAGC 0.572000 8 43 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 GL000192.1 160459 160459 + RNA SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chrGL000192.1:160459C>T uc010yih.1 - 11 c.1963G>A Q4G0P3 HYDIN_HUMAN Homo sapiens mRNA for KIAA1864 protein, partial cds. 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) ATTTTCCTTTCGATTGTCTCC 0.428000 93 6 0 0 1 0 0 ANKLE1 126549 broad.mit.edu 37 19 17393732 17393732 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:17393732C>T uc010xpn.1 + 3 657 c.543C>T c.(541-543)gtC>gtT p.V181V BABAM1_uc010ean.2_Non-coding_Transcript|ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Silent_p.V127V|ANKLE1_uc010eao.1_Silent_p.V149V|ANKLE1_uc002nfy.2_Silent_p.V116V|ANKLE1_uc002nfz.2_5'UTR Q8NAG6 ANKL1_HUMAN Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA. 127 nuclear envelope large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 GCGCGCGAGTCCTGCAGGATC 0.716000 OREG0025341 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 0 0 1 0 0 IL21R 50615 broad.mit.edu 37 16 27456005 27456005 + Nonsense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr16:27456005G>A uc002dor.2 + 6 1264 c.716G>A c.(715-717)tGg>tAg p.W239* IL21R_uc002doq.2_Nonsense_Mutation_p.W217*|IL21R_uc002dos.2_Nonsense_Mutation_p.W217* NM_181079 NP_851565 Q9HBE5 IL21R_HUMAN Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA. 217 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 TGGAGTGAATGGAGTGACCCG 0.592000 T BCL6 NHL 36 28 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178559900 178559900 + Splice_Site SNP T G G TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:178559900T>G uc003mjw.3 - 14 2188 c.2086_splice c.e14-1 p.K696_splice NM_014244 NP_055059 O95450 ATS2_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA. 696 Cys-rich. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) ACAGCCCACCTTCTGTTGGGG 0.582000 18 10 0 0 1 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117694 117694 + RNA SNP T G G TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chrGL000205.1:117694T>G uc002kgk.4 + 0 c.1072T>G Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. CGAGGTGGCCTCAGTAAAGGC 0.602000 27 4 0 0 1 0 0 FCGR2B 2213 broad.mit.edu 37 1 161642806 161642806 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:161642806G>A uc001gaz.2 + 3 560 c.433G>A c.(433-435)Gga>Aga p.G145R FCGR2B_uc009wum.2_Missense_Mutation_p.G145R|FCGR2B_uc001gay.2_Missense_Mutation_p.G144R|FCGR2B_uc001gba.2_Missense_Mutation_p.G144R|FCGR2B_uc009wun.2_Missense_Mutation_p.G138R|FCGR2B_uc001gbb.2_Missense_Mutation_p.G145R NM_004001 NP_003992 P31994 FCG2B_HUMAN Homo sapiens Fc fragment of IgG, low affinity IIb, receptor (CD32) (FCGR2B), transcript variant 1, mRNA. 145 Ig-like C2-type 2. immune response|interspecies interaction between organisms|regulation of immune response integral to membrane|plasma membrane IgG binding|receptor activity all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) 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) GTTCCAGGAGGGAGAAACCAT 0.542000 T ? ALL 38 15 0 0 1 0 0 EPM2A 7957 broad.mit.edu 37 6 146007362 146007362 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:146007362G>A uc003qkw.3 - 1 729 c.372C>T c.(370-372)ctC>ctT p.L124L EPM2A_uc003qkv.3_Silent_p.L124L|EPM2A_uc010khr.3_Silent_p.L124L|EPM2A_uc003qkx.3_5'UTR NM_005670 NP_005661 O95278 EPM2A_HUMAN Homo sapiens epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) (EPM2A), transcript variant 1, mRNA. 124 CBM20. glycogen metabolic process cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1) 7 Ovarian(120;0.162) OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203) GTCCTATTGGGAGACAATACA 0.418000 4 32 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 107013371 107013371 + RNA SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr14:107013371G>A uc021ser.1 - 218 c.8505C>T Parts of antibodies, mostly variable regions. TAGCAACAAGGAAAACCCAGC 0.483000 74 55 0 0 1 0 0 ETF1 2107 broad.mit.edu 37 5 137849282 137849282 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:137849282G>A uc003ldc.4 - 4 681 c.516C>T c.(514-516)ttC>ttT p.F172F ETF1_uc011cyv.2_Silent_p.F158F|ETF1_uc010jex.3_Non-coding_Transcript|ETF1_uc003ldd.4_Silent_p.F139F|ETF1_uc010jey.1_5'UTR NM_004730 NP_004721 P62495 ERF1_HUMAN Homo sapiens eukaryotic translation termination factor 1 (ETF1), transcript variant 1, mRNA. 172 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination cytoplasm protein binding|ribosome binding|translation release factor activity, codon specific breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GATCCACAGTGAATTTGTGCA 0.433000 78 56 0 0 1 0 0 UBE3C 9690 broad.mit.edu 37 7 157000165 157000165 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr7:157000165C>T uc010lqs.3 + 11 1804 c.1492C>T c.(1492-1494)Cca>Tca p.P498S UBE3C_uc003wng.2_Missense_Mutation_p.P498S NM_014671 NP_055486 Q15386 UBE3C_HUMAN Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA. 498 protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) TCGAATCATCCCACTCTTTTA 0.358000 41 26 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94505629 94505629 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:94505629C>T uc001dqh.3 - 23 3681 c.3577G>A c.(3577-3579)Gat>Aat p.D1193N NM_000350 NP_000341 P78363 ABCA4_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA. 1193 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) GTTAGGTCATCGACGTGGGCT 0.562000 OREG0013610 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 9 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152732122 152732122 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:152732122G>A uc001fal.1 + 1 116 c.58G>A c.(58-60)Ggt>Agt p.G20S KPRP_uc021ozf.1_Missense_Mutation_p.G20S NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA. 20 Gln-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTGCGTCAAGGGTCCCTCCTT 0.582000 54 32 0 0 1 0 0 KCND3 3752 broad.mit.edu 37 1 112525151 112525151 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:112525151C>T uc001ebu.1 - 1 678 c.198G>A c.(196-198)ctG>ctA p.L66L KCND3_uc001ebv.1_Silent_p.L66L NM_004980 NP_004971 Q9UK17 KCND3_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA. 66 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) CCGTGCTGCCCAGCAGGGTGT 0.597000 39 39 0 0 1 0 0 TANC2 26115 broad.mit.edu 37 17 61493003 61493003 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr17:61493003C>T uc002jal.4 + 22 3906 c.3883C>T c.(3883-3885)Ctc>Ttc p.L1295F TANC2_uc010wpe.2_Missense_Mutation_p.L1205F|TANC2_uc002jao.4_Missense_Mutation_p.L406F NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA. 1295 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 GTCTCTCCTCCTCAACCTCTC 0.522000 7 30 0 0 1 0 0 OR2Y1 134083 broad.mit.edu 37 5 180166378 180166378 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:180166378C>T uc003mmf.1 - 0 681 c.681G>A c.(679-681)gtG>gtA p.V227V NM_001001657 NP_001001657 Q8NGV0 OR2Y1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA. 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCGTTGACTTCACCCTCAGCA 0.507000 103 71 0 0 1 0 0 SLC4A10 57282 broad.mit.edu 37 2 162719515 162719515 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:162719515C>T uc002ubx.4 + 5 893 c.709C>T c.(709-711)Cgt>Tgt p.R237C SLC4A10_uc010fpa.1_Missense_Mutation_p.R249C|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.R248C|SLC4A10_uc002uby.4_Missense_Mutation_p.R237C NM_001178015 NP_001171486 Q6U841 S4A10_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA. 237 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity p.R237R(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TCCCATTGTTCGTTCCTTTGC 0.383000 26 13 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 41976878 41976878 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:41976878G>A uc001cgz.4 - 8 7678 c.6465C>T c.(6463-6465)tcC>tcT p.S2155S HIVEP3_uc001cha.4_Silent_p.S2154S|HIVEP3_uc001cgy.3_Non-coding_Transcript NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 2155 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) AGAAGGGTCGGGAGGAGAGAG 0.602000 24 19 0 0 1 0 0 ALG10 84920 broad.mit.edu 37 12 34179203 34179203 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr12:34179203C>T uc001rlm.3 + 2 1094 c.775C>T c.(775-777)Ctt>Ttt p.L259F NM_032834 NP_116223 Q5BKT4 AG10A_HUMAN Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) (ALG10), mRNA. 259 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) GCCCTACATCCTTCTGGGATT 0.373000 173 119 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108489172 108489172 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:108489172G>A uc010ywk.2 + 19 4794 c.4712G>A c.(4711-4713)gGa>gAa p.G1571E RGPD4_uc002tdu.3_Missense_Mutation_p.G758E|RGPD4_uc010ywl.2_Intron NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 1571 intracellular transport binding p.G1571A(2) breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TCTTTGTTTGGATTTAGTTTT 0.348000 158 150 0 0 1 0 0 GJB5 2709 broad.mit.edu 37 1 35223722 35223722 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:35223722C>T uc001bxu.3 + 1 891 c.791C>T c.(790-792)cCc>cTc p.P264L GJB5_uc021okz.1_Missense_Mutation_p.P264L|GJB4_uc001bxv.1_5'Flank NM_005268 NP_005259 O95377 CXB5_HUMAN Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA. 264 cell communication|epidermis development connexon complex|integral to membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 Myeloproliferative disorder(586;0.0393) CCAGACCGCCCCCGAGACCAT 0.572000 31 30 0 0 1 0 0 TRIM10 10107 broad.mit.edu 37 6 30128370 30128370 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:30128370G>A uc003npo.3 - 0 342 c.266C>T c.(265-267)tCc>tTc p.S89F TRIM10_uc003npn.2_Missense_Mutation_p.S89F|TRIM15_uc010jrx.3_5'Flank NM_006778 NP_006769 Q9UDY6 TRI10_HUMAN Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA. 89 cytoplasm zinc ion binding ovary(1) 1 ACCCAGTGTGGACACCAGCTG 0.572000 79 220 0 0 1 0 0 UGT8 7368 broad.mit.edu 37 4 115544660 115544660 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr4:115544660C>T uc003ibs.2 + 1 1146 c.624C>T c.(622-624)agC>agT p.S208S UGT8_uc003ibt.2_Silent_p.S208S|UGT8_uc011cge.1_Non-coding_Transcript NM_001128174 NP_003351 Q16880 CGT_HUMAN Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA. 208 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) TAGGGGTCAGCTTTCTGGTTC 0.458000 59 36 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51189601 51189601 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:51189601C>T uc002psx.1 - 19 2489 c.2470G>A c.(2470-2472)Gaa>Aaa p.E824K SHANK1_uc002psw.1_Missense_Mutation_p.E208K NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA. 824 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) GCCAGGATTTCGTCCAGTTTG 0.567000 31 31 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57189301 57189301 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:57189301C>T uc001cym.4 - 16 2340 c.1934G>A c.(1933-1935)aGa>aAa p.R645K C1orf168_uc001cyl.3_Non-coding_Transcript NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA. 645 p.R645K(2) 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 TCTTTTCATTCTGTTCTTTTC 0.308000 11 8 0 0 1 0 0 PROX1 5629 broad.mit.edu 37 1 214171138 214171138 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:214171138C>T uc001hkh.3 + 1 1532 c.1260C>T c.(1258-1260)ccC>ccT p.P420P PROX1_uc001hkg.1_Silent_p.P420P NM_002763 NP_002754 Q92786 PROX1_HUMAN Homo sapiens prospero homeobox 1 (PROX1), mRNA. 420 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) TTCCGAACCCCCTGGACACCT 0.567000 86 57 0 0 1 0 0 C9 735 broad.mit.edu 37 5 39315967 39315967 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:39315967G>A uc003jlv.4 - 5 869 c.780C>T c.(778-780)tcC>tcT p.S260S NM_001737 NP_001728 P02748 CO9_HUMAN Homo sapiens complement component 9 (C9), mRNA. 260 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) AAGAAATTGAGGAGGCTGTTT 0.328000 36 20 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13092489 13092489 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr18:13092489C>T uc010xac.2 + 33 6297 c.6217C>T c.(6217-6219)Ctt>Ttt p.L2073F CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.L1598F|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_Missense_Mutation_p.L495F|CEP192_uc002krx.3_Missense_Mutation_p.L77F|CEP192_uc002kry.3_Non-coding_Transcript NM_032142 NP_115518 B7ZMF0 B7ZMF0_HUMAN Homo sapiens centrosomal protein 192kDa (CEP192), mRNA. 1668 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 CAGAGAATTCCTTCAGCCTTC 0.363000 44 4 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57768768 57768768 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr20:57768768G>A uc002yan.3 + 0 2694 c.2694G>A c.(2692-2694)ggG>ggA p.G898G NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 898 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AGAGGGTGGGGCCAAGGGACA 0.672000 24 15 0 0 1 0 0 SMYD1 150572 broad.mit.edu 37 2 88387541 88387541 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:88387541C>T uc002ssr.3 + 2 560 c.475C>T c.(475-477)Ccg>Tcg p.P159S SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_5'Flank NM_198274 NP_938015 Q8NB12 SMYD1_HUMAN Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA. 159 SET. 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 GCAGTACTGGCCGCCGCAGAG 0.602000 47 3 0 0 1 0 0 FAM160A2 84067 broad.mit.edu 37 11 6239109 6239109 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:6239109G>A uc001mck.4 - 8 2108 c.1749C>T c.(1747-1749)tgC>tgT p.C583C FAM160A2_uc001mcl.4_Silent_p.C569C|FAM160A2_uc001mcm.2_Silent_p.C569C NM_032127 NP_115503 Q8N612 F16A2_HUMAN Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA. 569 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ACCAGGTACGGCAGGCTCGGA 0.622000 45 4 0 0 1 0 0 SLC12A1 6557 broad.mit.edu 37 15 48522659 48522659 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr15:48522659C>T uc001zwn.4 + 6 1150 c.934C>T c.(934-936)Ctt>Ttt p.L312F SLC12A1_uc010uew.1_Missense_Mutation_p.L118F|SLC12A1_uc010bem.3_Missense_Mutation_p.L312F|SLC12A1_uc010uex.2_Missense_Mutation_p.L312F|SLC12A1_uc001zwq.4_Missense_Mutation_p.L83F|SLC12A1_uc001zwr.4_Missense_Mutation_p.L39F NM_000338 NP_000329 Q13621 S12A1_HUMAN Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA. 312 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) AGTGGTGATTCTTCTAGGAAT 0.413000 14 7 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159670097 159670097 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:159670097C>T uc010kjv.3 + 15 4917 c.4717C>T c.(4717-4719)Cca>Tca p.P1573S NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA. 1573 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GTCAAGGCCACCAACCACCAC 0.483000 3 5 0 0 1 0 0 TP73 7161 broad.mit.edu 37 1 3640009 3640009 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:3640009C>T uc001akp.3 + 5 818 c.708C>T c.(706-708)gtC>gtT p.V236V TP73_uc021ofb.1_Silent_p.V236V|TP73_uc021ofc.1_Silent_p.V236V|TP73_uc021ofd.1_Silent_p.V236V|TP73_uc021ofe.1_Silent_p.V236V|TP73_uc021off.1_Silent_p.V236V|TP73_uc010nzj.2_Silent_p.V187V|TP73_uc021ofg.1_Silent_p.V187V|TP73_uc021ofh.1_Silent_p.V187V|TP73_uc021ofi.1_Silent_p.V187V|TP73_uc001akr.3_Silent_p.V187V|TP73_uc009vlk.2_Silent_p.V187V|TP73_uc001aks.3_Silent_p.V187V|TP73_uc010nzk.2_Silent_p.V165V NM_005427 NP_001191121 O15350 P73_HUMAN Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA. 236 DNA-binding (Potential). DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) GGCAGAGCGTCGTGGTGCCCT 0.657000 18 13 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92441597 92441597 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr14:92441597G>A uc001xzy.3 - 17 5750 c.5376C>T c.(5374-5376)ttC>ttT p.F1792F TRIP11_uc010auf.2_Silent_p.F1528F NM_004239 NP_004230 Q15643 TRIPB_HUMAN Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA. 1792 GRIP. transcription from RNA polymerase II promoter Golgi apparatus|cytoskeleton|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TCGGTGTGTGGAAATGACCAA 0.443000 T PDGFRB AML 7 31 0 0 1 0 0 X97876 0 broad.mit.edu 37 9 66499611 66499611 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr9:66499611C>T uc004aee.1 + 0 421 c.421C>T c.(421-423)Ctc>Ttc p.L141F X97876_uc004aed.1_Intron Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). GGCTTTGTCTCTCTTCTGCCA 0.557000 4 3 0 0 1 0 0 BACE2 25825 broad.mit.edu 37 21 42647392 42647392 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr21:42647392C>T uc002yyw.3 + 8 1861 c.1398C>T c.(1396-1398)ccC>ccT p.P466P BACE2_uc002yyx.3_Silent_p.P416P|BACE2_uc002yyy.3_3'UTR|BACE2_uc010goo.3_Non-coding_Transcript NM_012105 NP_036237 Q9Y5Z0 BACE2_HUMAN Homo sapiens beta-site APP-cleaving enzyme 2 (BACE2), transcript variant a, mRNA. 466 membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing Golgi apparatus|cell surface|endoplasmic reticulum|endosome|integral to membrane aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Prostate(19;1.57e-07)|all_epithelial(19;0.0251) TGAGCGAGCCCATTTTGTGGA 0.557000 32 27 0 0 1 0 0 CUL7 9820 broad.mit.edu 37 6 43008396 43008396 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:43008396G>A uc003otq.3 - 20 4227 c.3895C>T c.(3895-3897)Cgc>Tgc p.R1299C CUL7_uc010jyg.3_Missense_Mutation_p.R578C|CUL7_uc011dvb.2_Missense_Mutation_p.R1383C|KLC4_uc003otr.1_5'Flank NM_014780 NP_055595 Q14999 CUL7_HUMAN Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA. 1299 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) TGGGGGAGGCGGTTGGGGAAG 0.637000 59 42 0 0 1 0 0 VAMP7 6845 broad.mit.edu 37 X 155127820 155127820 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chrX:155127820G>A uc004fnr.3 + 3 427 c.249G>A c.(247-249)aaG>aaA p.K83K VAMP7_uc011naa.2_Silent_p.K44K|VAMP7_uc011nab.2_5'UTR|VAMP7_uc004fnt.3_Silent_p.K42K|VAMP7_uc004fns.3_Silent_p.K83K|VAMP7_uc011nac.2_Silent_p.K16K NM_005638 NP_005629 P51809 VAMP7_HUMAN Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA. 83 Longin. ER to Golgi vesicle-mediated transport|calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion Golgi apparatus|SNARE complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|transport vesicle membrane protein binding large_intestine(1)|lung(8) 9 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ATGAGATAAAGAAGAGGTTCC 0.403000 60 43 0 0 1 0 0 TPST1 8460 broad.mit.edu 37 7 65705773 65705773 + Missense_Mutation SNP A G G TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr7:65705773A>G uc003tuw.3 + 1 713 c.361A>G c.(361-363)Aag>Gag p.K121E TPST1_uc010kzy.2_Intron NM_003596 NP_003587 O60507 TPST1_HUMAN Homo sapiens tyrosylprotein sulfotransferase 1 (TPST1), mRNA. 121 inflammatory response|peptidyl-tyrosine sulfation Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 AAGTAAAGAGAAGATCCGCCT 0.527000 37 34 0 0 1 0 0 C12orf42 374470 broad.mit.edu 37 12 103762668 103762668 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr12:103762668G>A uc001tjt.2 - 3 344 c.256C>T c.(256-258)Cca>Tca p.P86S C12orf42_uc001tjs.3_Non-coding_Transcript|C12orf42_uc009zuf.1_Missense_Mutation_p.P86S|C12orf42_uc001tju.2_5'UTR NM_198521 NP_940923 Q96LP6 CL042_HUMAN Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA. 86 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 AATTTACCTGGAAAATTCAGA 0.338000 0 6 0 0 1 0 0 COPS7B 64708 broad.mit.edu 37 2 232658990 232658990 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:232658990C>T uc002vsh.1 + 3 359 c.256C>T c.(256-258)Cca>Tca p.P86S COPS7B_uc010fxy.1_Missense_Mutation_p.P52S|COPS7B_uc002vsg.1_Missense_Mutation_p.P86S|COPS7B_uc002vsi.1_5'UTR|COPS7B_uc002vsj.1_Non-coding_Transcript|COPS7B_uc002vsk.1_5'UTR Q9H9Q2 CSN7B_HUMAN Homo sapiens COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis) (COPS7B), mRNA. 86 PCI. cullin deneddylation cytoplasm|signalosome large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1) 8 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025) Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) GGAGAGCCTGCCAGAACTGAG 0.463000 29 17 0 0 1 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179820240 179820240 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:179820240C>T uc001gnl.3 - 4 1107 c.293G>A c.(292-294)gGa>gAa p.G98E TOR1AIP2_uc001gnk.3_Missense_Mutation_p.G98E NM_001199260 NP_001186189 Q8NFQ8 TOIP2_HUMAN Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA. 98 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2) 18 ATGCCCTTTTCCGCCATCCAG 0.453000 39 27 0 0 1 0 0 MCM10 55388 broad.mit.edu 37 10 13214462 13214462 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:13214462C>T uc001ima.3 + 3 564 c.436C>T c.(436-438)Cgt>Tgt p.R146C MCM10_uc001imb.3_Missense_Mutation_p.R146C|MCM10_uc001imc.3_Missense_Mutation_p.R146C NM_182751 NP_877428 Q7L590 MCM10_HUMAN Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA. 146 DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 AAGCCCAGCCCGTCTGCAAAA 0.393000 62 33 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145773193 145773193 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr8:145773193G>A uc003zds.1 - 5 1832 c.1277C>T c.(1276-1278)tCg>tTg p.S426L ARHGAP39_uc011llk.1_Missense_Mutation_p.S426L|ARHGAP39_uc003zdt.1_Missense_Mutation_p.S426L NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA. 426 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 CAAGGAGTACGAACCACCGCC 0.701000 4 5 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106586059 106586059 + RNA SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr14:106586059C>T uc021ser.1 - 1812 c.34168G>A abParts_uc001ysv.3_Non-coding_Transcript Parts of antibodies, mostly variable regions. TCCTGTGCGCCCCCTGCAGCT 0.542000 35 32 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9546763 9546763 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr20:9546763G>A uc002wnl.2 - 5 1804 c.1259C>T c.(1258-1260)tCc>tTc p.S420F PAK7_uc002wnk.2_Missense_Mutation_p.S420F|PAK7_uc002wnj.2_Missense_Mutation_p.S420F|PAK7_uc010gby.1_Missense_Mutation_p.S420F NM_020341 NP_817127 Q9P286 PAK7_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA. 420 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) CTGCTGGTCGGAGGAGGAGCC 0.632000 50 49 0 0 1 0 0 MON1B 22879 broad.mit.edu 37 16 77232127 77232127 + Silent SNP T C C TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr16:77232127T>C uc002fez.3 + 5 1896 c.1566T>C c.(1564-1566)cgT>cgC p.R522R MON1B_uc010vnf.2_Silent_p.R413R|MON1B_uc010vng.2_Silent_p.R376R|MON1B_uc002ffa.3_Silent_p.R402R|SYCE1L_uc010vnh.1_5'Flank NM_014940 NP_055755 Q7L1V2 MON1B_HUMAN Homo sapiens MON1 homolog B (yeast) (MON1B), mRNA. 522 protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 17 TCTTCATTCGTTACCCACCCA 0.557000 97 68 0 0 1 0 0 SLC17A2 10246 broad.mit.edu 37 6 25921430 25921430 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:25921430G>A uc011dkb.2 - 2 534 c.451C>T c.(451-453)Cgg>Tgg p.R151W SLC17A2_uc011dkc.2_Missense_Mutation_p.R151W|SLC17A2_uc003nfl.3_Missense_Mutation_p.R151W O00624 NPT3_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA. 151 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 TGGACTGTCCGAACCATGATG 0.438000 86 30 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112479058 112479058 + Splice_Site SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:112479058C>T uc003kql.4 - 5 1158 c.742_splice c.e5-1 p.C248_splice MCC_uc003kqj.4_Splice_Site_p.C58_splice|MCC_uc003kqk.4_Splice_Site|MCC_uc011cwb.1_Splice_Site_p.C58_splice|MCC_uc010jcd.1_Splice_Site_p.C20_splice NM_001085377 NP_001078846 P23508 CRCM_HUMAN Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA. 58 Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ACTGCTCGCACTGGGAATAAG 0.507000 26 26 0 0 1 0 0 CLGN 1047 broad.mit.edu 37 4 141315071 141315071 + Missense_Mutation SNP T G G TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr4:141315071T>G uc011chi.2 - 11 1492 c.1274A>C c.(1273-1275)gAt>gCt p.D425A CLGN_uc003iii.3_Missense_Mutation_p.D425A NM_001130675 NP_004353 O14967 CLGN_HUMAN Homo sapiens calmegin (CLGN), transcript variant 2, mRNA. 425 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) AATAAAATTATCAAAGTAGAT 0.373000 34 18 0 0 1 0 0 CYTH4 27128 broad.mit.edu 37 22 37693707 37693707 + Missense_Mutation SNP A T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr22:37693707A>T uc003arf.3 + 4 453 c.337A>T c.(337-339)Acc>Tcc p.T113S CYTH4_uc003ard.4_Missense_Mutation_p.T113S|CYTH4_uc003are.2_Missense_Mutation_p.T113S|CYTH4_uc011amw.2_Missense_Mutation_p.T56S NM_013385 NP_037517 Q9UIA0 CYH4_HUMAN Homo sapiens cytohesin 4 (CYTH4), mRNA. 113 SEC7. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1) 15 AGCCATTGGTACCTACCTGGG 0.532000 64 41 0 0 1 0 0 C19orf35 374872 broad.mit.edu 37 19 2276361 2276361 + Nonsense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:2276361C>T uc002lvn.2 - 3 840 c.740G>A c.(739-741)tGg>tAg p.W247* SPPL2B_uc010dsw.1_Intron NM_198532 NP_940934 Q6ZS72 CS035_HUMAN Homo sapiens chromosome 19 open reading frame 35 (C19orf35), mRNA. 247 large_intestine(1)|lung(5)|pancreas(1)|prostate(1) 8 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) TGCGCCTCTCCAGGGCGCCCC 0.711000 9 6 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9058952 9058952 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:9058952C>T uc002mkp.3 - 2 28698 c.28494G>A c.(28492-28494)gaG>gaA p.E9498E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9500 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 CGGCCAGACTCTCATCTGAGG 0.478000 85 53 0 0 1 0 0 STL 7955 broad.mit.edu 37 6 125232330 125232330 + RNA SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:125232330C>T uc003pzq.3 - 6 c.2404G>A Homo sapiens six-twelve leukemia (STL), non-coding RNA. ATATGAATATCAATAAAACCC 0.423000 T ETV6 B-ALL 9 12 0 0 1 0 0 TTC6 319089 broad.mit.edu 37 14 38265500 38265500 + Splice_Site SNP G A A rs144829002 by1000genomes TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr14:38265500G>A uc001wuj.3 + 2 84 c.-18_splice c.e2-1 TTC6_uc001wug.3_Intron|TTC6_uc001wuh.3_Splice_Site|TTC6_uc001wui.3_Splice_Site SubName: Full=TTC6 protein; central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 14 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176) GBM - Glioblastoma multiforme(112;0.00551) TTCTTCCAGAGGACAATATCT 0.234000 1 10 0 0 1 0 0 HKDC1 80201 broad.mit.edu 37 10 71017109 71017109 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:71017109C>T uc001jpf.4 + 13 2092 c.1959C>T c.(1957-1959)gtC>gtT p.V653V HKDC1_uc010qje.2_Silent_p.V516V|HKDC1_uc009xqb.3_Non-coding_Transcript NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA. 653 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 TTGTTGCAGTCGTGAATGATA 0.438000 66 46 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55873409 55873409 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:55873409G>A uc010riy.2 + 0 891 c.891G>A c.(889-891)gtG>gtA p.V297V NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA. 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) ACAAAGAGGTGAAAAATGCTG 0.373000 HNSCC(53;0.14) 55 49 0 0 1 0 0 MMP21 118856 broad.mit.edu 37 10 127464290 127464290 + Missense_Mutation SNP G C C rs147007817 byFrequency TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:127464290G>C uc001liu.3 - 0 101 c.101C>G c.(100-102)tCg>tGg p.S34W NM_147191 NP_671724 Q8N119 MMP21_HUMAN Homo sapiens matrix metallopeptidase 21 (MMP21), mRNA. 34 proteolysis extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 16 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) CTCCAGGTCCGAGCGGTCCCG 0.672000 25 19 0 0 1 0 0 FCHO1 23149 broad.mit.edu 37 19 17895689 17895689 + Silent SNP G T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:17895689G>T uc002nhg.3 + 25 2661 c.2382G>T c.(2380-2382)gtG>gtT p.V794V FCHO1_uc010ebb.2_Silent_p.V794V|FCHO1_uc002nhh.2_Silent_p.V794V|FCHO1_uc010xpw.1_Silent_p.V744V NM_001161357 NP_001154829 O14526 FCHO1_HUMAN Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA. 794 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 TGCTGCCTGTGGGGGAGCCTG 0.652000 OREG0025350 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 62 35 6.05902e-23 6.17554e-23 1 1 0 C1QTNF9B 387911 broad.mit.edu 37 13 24465742 24465742 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr13:24465742C>T uc010tcw.2 - 2 708 c.688G>A c.(688-690)Gaa>Aaa p.E230K MIPEP_uc001uox.4_5'Flank|C1QTNF9B-AS1_uc001uoy.3_Intron|C1QTNF9B-AS1_uc009zzx.3_Intron|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.2_Missense_Mutation_p.E230K NM_001007537 NP_001007538 B2RNN3 C1T9B_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 9B (C1QTNF9B), mRNA. 230 C1q. collagen p.E230K(2) breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1) 6 TGGTTGAATTCATTATACAGG 0.428000 105 6 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79026207 79026207 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:79026207C>T uc003kgc.3 + 1 1691 c.1619C>T c.(1618-1620)cCa>cTa p.P540L NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA. 540 Glu-rich. 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) CCAGAAAGCCCATTGGTTTCC 0.428000 92 73 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70955078 70955078 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr16:70955078C>T uc002ezr.3 - 45 7349 c.7198G>A c.(7198-7200)Gaa>Aaa p.E2400K NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 2401 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) ATTTTCCTTTCGATTGTCTCC 0.428000 44 36 0 0 1 0 0 GBP7 388646 broad.mit.edu 37 1 89618092 89618092 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:89618092C>T uc001dna.2 - 4 623 c.484G>A c.(484-486)Gaa>Aaa p.E162K GBP2_uc001dmy.1_5'Flank NM_207398 NP_997281 Q8N8V2 GBP7_HUMAN Homo sapiens guanylate binding protein 7 (GBP7), mRNA. 162 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) TCCTCAACTTCATCAGGTCTG 0.478000 52 56 0 0 1 0 0 ZNF735 730291 broad.mit.edu 37 7 63667601 63667601 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr7:63667601C>T uc011kdn.2 + 0 21 c.21C>T c.(19-21)ccC>ccT p.P7P NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN Homo sapiens zinc finger protein 735 (ZNF735), mRNA. 7 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GACCGGGACCCCCTGGAAGCC 0.567000 23 22 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 153991451 153991451 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:153991451C>T uc001fdw.3 - 32 4683 c.4611G>A c.(4609-4611)atG>atA p.M1537I NUP210L_uc009woq.3_Missense_Mutation_p.M446I|NUP210L_uc010peh.2_Missense_Mutation_p.M1537I NM_207308 NP_997191 Q5VU65 P210L_HUMAN Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA. 1537 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CATGAAAAATCATTGCAGTCC 0.438000 65 40 0 0 1 0 0 OSBPL6 114880 broad.mit.edu 37 2 179259069 179259069 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:179259069C>T uc002uly.3 + 24 3222 c.2678C>T c.(2677-2679)gCa>gTa p.A893V MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_Missense_Mutation_p.A868V|OSBPL6_uc010zfe.2_Missense_Mutation_p.A837V|OSBPL6_uc002ulz.3_Missense_Mutation_p.A832V|OSBPL6_uc002uma.3_Missense_Mutation_p.A872V NM_001201480 NP_001188409 Q9BZF3 OSBL6_HUMAN Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA. 868 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) TTAGAAGCTGCAGCATCAGAG 0.348000 79 65 0 0 1 0 0 LCA5L 150082 broad.mit.edu 37 21 40778455 40778455 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr21:40778455C>T uc002yxu.3 - 9 1679 c.1366G>A c.(1366-1368)Gaa>Aaa p.E456K LCA5L_uc002yxv.3_Missense_Mutation_p.E456K NM_152505 NP_689718 O95447 LCA5L_HUMAN Homo sapiens Leber congenital amaurosis 5-like (LCA5L), mRNA. 456 breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 24 Prostate(19;1.2e-06) TTTTTCTTTTCTTGGTCTTCT 0.318000 45 30 0 0 1 0 0 HSPA7 3311 broad.mit.edu 37 1 161576950 161576950 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:161576950C>T uc010pkp.1 + 0 1102 c.870C>T c.(868-870)ttC>ttT p.F290F Homo sapiens heat shock 70kDa protein 7 (HSP70B) (HSPA7), non-coding RNA. ACTCCCTGTTCGAGGGCGTGG 0.652000 13 8 0 0 1 0 0 FCRL6 343413 broad.mit.edu 37 1 159779256 159779256 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:159779256G>A uc001fud.4 + 4 711 c.669G>A c.(667-669)atG>atA p.M223I FCRL6_uc001fuc.2_Missense_Mutation_p.M230I|FCRL6_uc009wsz.1_Missense_Mutation_p.M128I|FCRL6_uc009wta.3_Missense_Mutation_p.M223I NM_001004310 NP_001004310 Q6DN72 FCRL6_HUMAN Homo sapiens Fc receptor-like 6 (FCRL6), mRNA. 223 Ig-like C2-type 3. 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) TGGGGGACATGGTGCAGCTCC 0.612000 40 38 0 0 1 0 0 PTPRH 5794 broad.mit.edu 37 19 55713462 55713462 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:55713462C>T uc002qjq.3 - 5 1188 c.1115G>A c.(1114-1116)gGa>gAa p.G372E PTPRH_uc010esv.3_Missense_Mutation_p.G194E|PTPRH_uc002qjs.2_Missense_Mutation_p.G379E NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA. 372 Fibronectin type-III 4. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) GCTGTTGATTCCATTCTTCCC 0.502000 72 47 0 0 1 0 0 ACY1 95 broad.mit.edu 37 3 52020304 52020304 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:52020304G>A uc003dcp.3 + 5 717 c.393G>A c.(391-393)gaG>gaA p.E131E ABHD14B_uc003dcn.3_5'Flank|ACY1_uc011bea.2_Silent_p.E221E|ACY1_uc011beb.2_Silent_p.E131E|ACY1_uc003dcq.3_Silent_p.E131E|ACY1_uc021wzb.1_Silent_p.E96E|ACY1_uc021wzc.1_Intron|ACY1_uc021wzd.1_Silent_p.E131E NM_000666 NP_001185824 Q03154 ACY1_HUMAN Homo sapiens aminoacylase 1 (ACY1), transcript variant 1, mRNA. 131 cellular amino acid metabolic process|proteolysis cytosol aminoacylase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) L-Aspartic Acid(DB00128) TGAAGGTGGAGGGCCACCGGT 0.652000 22 11 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 206480522 206480522 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:206480522G>A uc002var.2 + 22 3810 c.3603G>A c.(3601-3603)atG>atA p.M1201I PARD3B_uc002vao.2_Missense_Mutation_p.M1100I|PARD3B_uc002vap.2_Missense_Mutation_p.M1139I|PARD3B_uc002vaq.2_Missense_Mutation_p.M1132I NM_205863 NP_689739 Q8TEW8 PAR3L_HUMAN Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA. 1201 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) AGAACCCCATGACTGCAGCCG 0.587000 50 31 0 0 1 0 0 ASZ1 136991 broad.mit.edu 37 7 117008756 117008756 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr7:117008756G>A uc003vjb.2 - 10 1134 c.1071C>T c.(1069-1071)ctC>ctT p.L357L ASZ1_uc011kno.1_Silent_p.L357L|ASZ1_uc011knp.1_Silent_p.L149L NM_130768 NP_570124 Q8WWH4 ASZ1_HUMAN Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA. 357 DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) GAAGAAAGTTGAGGAACTCAT 0.313000 50 53 0 0 1 0 0 SNRPN 6638 broad.mit.edu 37 15 25223060 25223060 + Missense_Mutation SNP C T T rs71461576 TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr15:25223060C>T uc021sgb.1 + 5 1607 c.565C>T c.(565-567)Cca>Tca p.P189S SNRPN_uc001ywp.1_Missense_Mutation_p.P186S|SNRPN_uc001ywq.1_Missense_Mutation_p.P186S|SNRPN_uc001ywr.1_Missense_Mutation_p.P186S|SNRPN_uc001yws.1_Missense_Mutation_p.P186S|SNRPN_uc001ywt.1_Missense_Mutation_p.P186S|SNRPN_uc001ywy.1_Missense_Mutation_p.P186S|SNRPN_uc001ywz.1_Non-coding_Transcript|SNRPN_uc001yxa.1_Intron|SNRPN_uc021sga.1_Missense_Mutation_p.P186S NM_022808 NP_073719 P63162 RSMN_HUMAN Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 5, mRNA. 186 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) AACCCCACCTCCAGGTAAGGG 0.547000 Prader-Willi syndrome 4 13 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71500648 71500648 + Splice_Site SNP C A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr14:71500648C>A uc001xmo.2 + 18 4115 c.3669_splice c.e18-1 p.F1223_splice PCNX_uc010are.1_Splice_Site_p.F1112_splice|PCNX_uc010arf.1_Splice_Site_p.F83_splice NM_014982 NP_055797 Q96RV3 PCX1_HUMAN Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA. 1223 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TCACATAAAGCTCTTTAGTGC 0.323000 3 15 6.72482e-11 6.76739e-11 1 1 0 HPS6 79803 broad.mit.edu 37 10 103825818 103825819 + Missense_Mutation DNP CC TT TT TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:103825818_103825819CC>TT uc001kuj.3 + 0 695_696 c.587_588CC>TT c.(586-588)tcc>tTT p.S196F NM_024747 NP_079023 Q86YV9 HPS6_HUMAN Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA. 196 cytosol|early endosome membrane|endoplasmic reticulum|microsome endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1) 11 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) CTGCTGGCCTCCTGCAGACAAC 0.663000 Hermansky-Pudlak syndrome 33 17 0 0 1 0 0 TIMD4 91937 broad.mit.edu 37 5 156347514 156347514 + Splice_Site SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:156347514C>T uc003lwh.2 - 8 1070 c.1013_splice c.e8-1 p.G338_splice TIMD4_uc010jii.2_Splice_Site_p.G310_splice|TIMD4_uc003lwg.2_Splice_Site_p.G40_splice NM_138379 NP_612388 Q96H15 TIMD4_HUMAN Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA. 338 integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CATGAGTTTCCCTGAAAAGAC 0.453000 30 13 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43699191 43699191 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:43699191C>T uc002ovy.3 - 3 1046 c.944G>A c.(943-945)cGa>cAa p.R315Q PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.R222Q NM_002780 NP_002771 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA. 315 Ig-like C2-type 2. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) GCCACCATATCGGTCCCGTAT 0.488000 129 91 0 0 1 0 0 KIAA1841 84542 broad.mit.edu 37 2 61324857 61324857 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:61324857C>T uc002saw.4 + 11 1538 c.1235C>T c.(1234-1236)tCa>tTa p.S412L KIAA1841_uc002sax.4_Missense_Mutation_p.S266L|KIAA1841_uc002say.3_Missense_Mutation_p.S412L NM_001129993 NP_001123465 Q6NSI8 K1841_HUMAN Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA. 412 breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) ATTGAATTTTCACATTGTCAA 0.328000 38 31 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168102351 168102351 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:168102351G>A uc002udx.3 + 8 4538 c.4449G>A c.(4447-4449)caG>caA p.Q1483Q XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.Q1308Q|XIRP2_uc010fpq.3_Silent_p.Q1261Q|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 1308 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAGATGTGCAGAAAGGTGATG 0.378000 57 35 0 0 1 0 0 LUZP2 338645 broad.mit.edu 37 11 24927558 24927558 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:24927558C>T uc001mqs.3 + 5 692 c.418C>T c.(418-420)Ctc>Ttc p.L140F LUZP2_uc009yif.3_Missense_Mutation_p.L54F|LUZP2_uc009yig.3_Intron NM_001009909 NP_001009909 Q86TE4 LUZP2_HUMAN Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA. 140 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 GAAAAACAAACTCTTGTCAGG 0.323000 4 16 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167815304 167815304 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:167815304G>A uc001ger.3 - 19 2933 c.2635C>T c.(2635-2637)Ctt>Ttt p.L879F ADCY10_uc010plj.2_Missense_Mutation_p.L726F|ADCY10_uc009wvk.3_Missense_Mutation_p.L787F|ADCY10_uc009wvl.3_Missense_Mutation_p.L878F NM_018417 NP_001161221 Q96PN6 ADCYA_HUMAN Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA. 879 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction ATP binding|adenylate cyclase activity|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 GCCTTTTGAAGCTCCTTGCCA 0.463000 69 60 0 0 1 0 0 OR10J3 441911 broad.mit.edu 37 1 159284042 159284042 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:159284042G>A uc010piu.2 - 0 408 c.408C>T c.(406-408)atC>atT p.I136I NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA. 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) TCTTACCCATGATGACTGAAT 0.507000 45 59 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459715 107459715 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:107459715C>T uc002tdq.3 - 1 838 c.719G>A c.(718-720)gGg>gAg p.G240E ST6GAL2_uc002tdr.3_Missense_Mutation_p.G240E|ST6GAL2_uc002tds.3_Missense_Mutation_p.G240E NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 240 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CTCCCGCTTCCCGCGGAAGCG 0.677000 3 17 0 0 1 0 0 DHRSX 207063 broad.mit.edu 37 X 2139245 2139245 + Missense_Mutation SNP G A A rs141861979 byFrequency TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chrX:2139245G>A uc004cqf.4 - 6 879 c.830C>T c.(829-831)tCc>tTc p.S277F NM_145177 NP_660160 Q8N5I4 DHRSX_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) X-linked (DHRSX), mRNA. 277 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) TGCGTAGATGGAAGTCCACGC 0.512000 63 55 0 0 1 0 0 C20orf111 51526 broad.mit.edu 37 20 42826004 42826004 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr20:42826004G>A uc002xlk.3 - 3 819 c.567C>T c.(565-567)tcC>tcT p.S189S NM_016470 NP_057554 Q9NX31 CT111_HUMAN Homo sapiens chromosome 20 open reading frame 111 (C20orf111), mRNA. 189 breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 14 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) GGTTTAGCTTGGAAACTGATT 0.493000 65 51 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98778392 98778392 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:98778392C>T uc001kmw.2 - 27 3172 c.2920G>A c.(2920-2922)Gaa>Aaa p.E974K NM_003061 NP_003052 O75093 SLIT1_HUMAN Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA. 974 EGF-like 2. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space Roundabout binding|calcium ion binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CCCCCATTTTCACAGGGGCCA 0.627000 6 5 0 0 1 0 0 AACSP1 729522 broad.mit.edu 37 5 178194175 178194175 + RNA SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:178194175C>T uc011dgk.2 - 5 c.816G>A AACSP1_uc011dgl.2_Non-coding_Transcript|AACSP1_uc003mjk.3_Non-coding_Transcript Homo sapiens acetoacetyl-CoA synthetase pseudogene 1 (AACSP1), non-coding RNA. AGGTTTCCATCCTCCCTGTGC 0.587000 8 4 0 0 1 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105889341 105889341 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:105889341G>A uc002tcq.3 - 9 2027 c.1943C>T c.(1942-1944)tCt>tTt p.S648F TGFBRAP1_uc010fjc.3_Missense_Mutation_p.S417F|TGFBRAP1_uc002tcr.4_Missense_Mutation_p.S648F NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA. 648 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 GTATAAATCAGATTTCTGGAG 0.557000 26 14 0 0 1 0 0 MCU 90550 broad.mit.edu 37 10 74645530 74645530 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:74645530G>A uc001jtc.3 + 7 1027 c.1006G>A c.(1006-1008)Gac>Aac p.D336N MCU_uc009xqr.3_Missense_Mutation_p.D315N|MCU_uc001jtd.3_Missense_Mutation_p.D287N NM_138357 NP_612366 Q8NE86 MCU_HUMAN Homo sapiens mitochondrial calcium uniporter (MCU), nuclear gene encoding mitochondrial protein, mRNA. 336 elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization integral to membrane|mitochondrial inner membrane protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 14 GAGACTGAGAGACCCATTACA 0.403000 36 25 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133885437 133885437 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr8:133885437G>A uc003ytw.3 + 4 650 c.609G>A c.(607-609)atG>atA p.M203I NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 203 Thyroglobulin type-1 3. 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) CAGACATGATGATTTTTGATC 0.552000 18 11 0 0 1 0 0 ZDHHC15 158866 broad.mit.edu 37 X 74641751 74641751 + Nonsense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chrX:74641751G>A uc004ecg.3 - 8 1289 c.811C>T c.(811-813)Cag>Tag p.Q271* ZDHHC15_uc004ech.3_Nonsense_Mutation_p.Q262*|ZDHHC15_uc011mqo.1_Non-coding_Transcript NM_144969 NP_659406 Q96MV8 ZDH15_HUMAN Homo sapiens zinc finger, DHHC-type containing 15 (ZDHHC15), transcript variant 1, mRNA. 271 integral to membrane zinc ion binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2) 26 AACACCTGCTGGATATTCTTG 0.453000 2 24 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32087495 32087495 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:32087495C>T uc003jhl.3 + 19 4329 c.3941C>T c.(3940-3942)cCc>cTc p.P1314L PDZD2_uc003jhm.3_Missense_Mutation_p.P1314L NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 1314 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 ACCAGCACACCCCACAATACC 0.652000 45 24 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4171979 4171979 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr7:4171979C>T uc003smx.3 + 27 4291 c.4152C>T c.(4150-4152)ctC>ctT p.L1384L SDK1_uc010kso.3_Silent_p.L660L|SDK1_uc003smy.3_5'UTR NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 1384 Fibronectin type-III 8. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CAGTGAGGCTCGTGTTCCCCG 0.607000 13 6 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9892263 9892263 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr16:9892263C>T uc010uym.2 - 11 2537 c.2227G>A c.(2227-2229)Gaa>Aaa p.E743K GRIN2A_uc002czo.4_Missense_Mutation_p.E743K|GRIN2A_uc010uyn.2_Missense_Mutation_p.E586K|GRIN2A_uc002czr.4_Missense_Mutation_p.E743K NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 743 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTGCAGCCTTCATCCCTCCCA 0.537000 37 21 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125131980 125131980 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr8:125131980C>T uc003yqw.3 + 40 5729 c.5523C>T c.(5521-5523)ttC>ttT p.F1841F AK057332_uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 1841 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) tcgtccttttcatcTACACCT 0.463000 84 61 0 0 1 0 0 TLR8 51311 broad.mit.edu 37 X 12939545 12939545 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chrX:12939545C>T uc004cvd.3 + 2 2610 c.2440C>T c.(2440-2442)Ccc>Tcc p.P814S TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.P796S NM_138636 NP_619542 Q9NR97 TLR8_HUMAN Homo sapiens toll-like receptor 8 (TLR8), mRNA. 796 LRRCT. I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity p.P814T(2) breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TGTCAAAATTCCCAGACTGGT 0.433000 7 69 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48376369 48376369 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr12:48376369G>A uc001rqu.3 - 33 2398 c.2217C>T c.(2215-2217)ccC>ccT p.P739P COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Silent_p.P670P NM_001844 NP_001835 P02458 CO2A1_HUMAN Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA. 739 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GAGCCCCAGGGGGGCCTGCTG 0.627000 1 8 0 0 1 0 0 SCN7A 6332 broad.mit.edu 37 2 167297944 167297944 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:167297944G>A uc002udu.2 - 13 2249 c.2119C>T c.(2119-2121)Cct>Tct p.P707S SCN7A_uc010fpm.2_Non-coding_Transcript NM_002976 NP_002967 Q01118 SCN7A_HUMAN Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA. 707 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 AGGTAAAAAGGAATACACCAG 0.393000 21 21 0 0 1 0 0 SLC38A3 10991 broad.mit.edu 37 3 50256137 50256137 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:50256137C>T uc003cyn.4 + 12 1287 c.1146C>T c.(1144-1146)atC>atT p.I382I NM_006841 NP_006832 Q99624 S38A3_HUMAN Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA. 383 cellular nitrogen compound metabolic process|sodium ion transport integral to plasma membrane L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity breast(1)|cervix(1)|endometrium(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615) L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117) CAGTGCCCATCGTTCTGTTCC 0.627000 28 15 0 0 1 0 0 SYCP2L 221711 broad.mit.edu 37 6 10894137 10894137 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:10894137G>A uc003mzo.3 + 2 412 c.116G>A c.(115-117)gGa>gAa p.G39E SYCP2L_uc011dim.1_Non-coding_Transcript NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA. 39 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) CATGATAAAGGATTTCAGAAA 0.299000 29 11 0 0 1 0 0 SPINT4 391253 broad.mit.edu 37 20 44351017 44351017 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr20:44351017C>T uc002xpe.1 + 0 30 c.11C>T c.(10-12)gCc>gTc p.A4V NM_178455 NP_848550 Q6UDR6 SPIT4_HUMAN Homo sapiens serine peptidase inhibitor, Kunitz type 4 (SPINT4), mRNA. 4 extracellular region serine-type endopeptidase inhibitor activity lung(6)|ovary(1)|skin(1) 8 Myeloproliferative disorder(115;0.028) ATGAAGTCTGCCAAGCTGGGA 0.448000 43 38 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7721804 7721804 + Silent SNP A C C rs140754490 TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:7721804A>C uc003bqm.2 + 8 2794 c.2520A>C c.(2518-2520)ctA>ctC p.L840L GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.L840L|GRM7_uc003bql.2_Silent_p.L840L|GRM7_uc003bqn.1_Silent_p.L423L NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 840 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TGGGGATGCTATACATGCCGA 0.473000 36 41 0 0 1 0 0 WDR16 146845 broad.mit.edu 37 17 9538850 9538850 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr17:9538850G>A uc010coc.3 + 11 1708 c.1479G>A c.(1477-1479)ggG>ggA p.G493G WDR16_uc002gly.3_Silent_p.G483G|WDR16_uc002glz.3_Silent_p.G415G Q8N1V2 WDR16_HUMAN Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA. 483 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 GCACCGATGGGACTTGTATCA 0.502000 6 23 0 0 1 0 0 MPP7 143098 broad.mit.edu 37 10 28412977 28412977 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:28412977C>T uc001iua.1 - 9 1002 c.598G>A c.(598-600)Gaa>Aaa p.E200K MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.E200K|MPP7_uc009xla.2_Missense_Mutation_p.E200K|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. 200 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 TGTATTATTTCCTCAGGCCTT 0.338000 59 31 0 0 1 0 0 APLP1 333 broad.mit.edu 37 19 36365505 36365505 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:36365505G>A uc002oce.3 + 8 1294 c.1156G>A c.(1156-1158)Gac>Aac p.D386N APLP1_uc010xsz.2_Missense_Mutation_p.D347N|APLP1_uc002ocf.3_Missense_Mutation_p.D386N|APLP1_uc002ocg.3_Missense_Mutation_p.D289N|APLP1_uc010xta.2_Missense_Mutation_p.D380N NM_005166 NP_005157 P51693 APLP1_HUMAN Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA. 386 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 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) CCTTATCAACGACCAGCGCCG 0.662000 48 42 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96540267 96540267 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr10:96540267G>A uc010qnz.2 + 3 493 c.493G>A c.(493-495)Gat>Aat p.D165N CYP2C19_uc009xus.1_Missense_Mutation_p.D30N|CYP2C19_uc010qny.2_Missense_Mutation_p.D143N NM_000769 NP_000760 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA. 165 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TTCACCCTGTGATCCCACTTT 0.318000 92 47 0 0 1 0 0 PURG 29942 broad.mit.edu 37 8 30889911 30889911 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr8:30889911C>T uc003xin.3 - 0 407 c.388G>A c.(388-390)Ggc>Agc p.G130S WRN_uc003xio.4_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.G130S NM_013357 NP_037489 Q9UJV8 PURG_HUMAN Homo sapiens purine-rich element binding protein G (PURG), transcript variant A, mRNA. 130 nucleus DNA binding endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) CCTTTCAGGCCCAGGTGGGCA 0.597000 79 50 0 0 1 0 0 ZBTB4 57659 broad.mit.edu 37 17 7366262 7366262 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr17:7366262C>T uc002ghc.4 - 3 2289 c.2039G>A c.(2038-2040)gGa>gAa p.G680E ZBTB4_uc002ghd.4_Missense_Mutation_p.G680E NM_001128833 NP_065950 Q9P1Z0 ZBTB4_HUMAN Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA. 680 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) ACTGGCACCTCCAGCAGCTCC 0.662000 7 39 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7230628 7230628 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:7230628C>T uc003mxb.3 + 9 2788 c.2296C>T c.(2296-2298)Cgt>Tgt p.R766C RREB1_uc021yky.1_Missense_Mutation_p.R766C|RREB1_uc003mxc.3_Missense_Mutation_p.R766C|RREB1_uc010jnx.3_Missense_Mutation_p.R766C|RREB1_uc021ykz.1_Missense_Mutation_p.R766C|RREB1_uc021yla.1_Intron NM_001003699 NP_001003699 Q92766 RREB1_HUMAN Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA. 766 Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CAAGCACTATCGTGCCCTGCG 0.692000 39 19 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28993112 28993112 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr18:28993112G>A uc002kwr.2 + 14 2869 c.2734G>A c.(2734-2736)Gaa>Aaa p.E912K DSG4_uc002kwq.2_Missense_Mutation_p.E893K NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 893 homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.Y911Y(1)|p.G912C(1) 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) ATTCCAAGAAGAAATGGCAGC 0.423000 106 67 0 0 1 0 0 TSGA10IP 254187 broad.mit.edu 37 11 65714785 65714785 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:65714785G>A uc001ogk.1 + 3 518 c.486G>A c.(484-486)aaG>aaA p.K162K TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron NM_152762 NP_689975 Q3SY00 T10IP_HUMAN Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA. 163 p.S162T(1) endometrium(2)|kidney(3)|lung(9) 14 GCTGCTGGAAGACAGAGGCGC 0.652000 16 10 0 0 1 0 0 ADCY6 112 broad.mit.edu 37 12 49164630 49164630 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr12:49164630G>A uc001rsh.4 - 18 3835 c.3175C>T c.(3175-3177)Ctg>Ttg p.L1059L ADCY6_uc001rsi.4_Silent_p.L1006L|ADCY6_uc001rsj.4_Silent_p.L1059L|ADCY6_uc010slw.1_3'UTR NM_015270 NP_056085 O43306 ADCY6_HUMAN Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA. 1059 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 TAGTCAGCCAGGGCAGTGATG 0.537000 11 41 0 0 1 0 0 T 6862 broad.mit.edu 37 6 166576055 166576055 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:166576055G>A uc003qut.1 - 5 1073 c.787C>T c.(787-789)Cct>Tct p.P263S T_uc003quu.1_Missense_Mutation_p.P262S|T_uc003quv.1_Intron NM_003181 NP_003172 O15178 BRAC_HUMAN Homo sapiens T, brachyury homolog (mouse) (T), mRNA. 262 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) CCAAACTGAGGATGAGGATTT 0.597000 Chordoma, Familial Clustering of 21 12 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70594480 70594480 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr8:70594480C>T uc003xyl.3 - 6 2428 c.1721G>A c.(1720-1722)gGa>gAa p.G574E SLCO5A1_uc010lzb.3_Missense_Mutation_p.G519E|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Missense_Mutation_p.G574E NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA. 574 Kazal-like. integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GTATGTAATTCCATCTGATCC 0.433000 48 44 0 0 1 0 0 MLL2 8085 broad.mit.edu 37 19 36228131 36228131 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:36228131C>T uc021usv.1 + 32 7517 c.7517C>T c.(7516-7518)cCc>cTc p.P2506L MLL2_uc021usu.1_Missense_Mutation_p.P1320L NM_014727 NP_055542 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA. 5335 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 CCCCTGAATCCCCATGGGGCT 0.637000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 4 3 0 0 1 0 0 EHD2 30846 broad.mit.edu 37 19 48220025 48220025 + Missense_Mutation SNP C G G TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:48220025C>G uc002phj.4 + 1 406 c.156C>G c.(154-156)gaC>gaG p.D52E EHD2_uc010xyu.2_Intron NM_014601 NP_055416 Q9NZN4 EHD2_HUMAN Homo sapiens EH-domain containing 2 (EHD2), mRNA. 52 blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 19 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) CCCTGGAGGACGCAGACTTCG 0.667000 19 13 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107752349 107752349 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr7:107752349C>T uc010ljo.1 - 3 319 c.235G>A c.(235-237)Gat>Aat p.D79N LAMB4_uc003vey.2_Missense_Mutation_p.D79N NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN Homo sapiens laminin, beta 4 (LAMB4), mRNA. 79 Laminin N-terminal. 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 TCATACGGATCATATGGAAAT 0.353000 61 55 0 0 1 0 0 SPINK6 404203 broad.mit.edu 37 5 147594480 147594480 + Silent SNP A G G TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:147594480A>G uc003lpa.3 + 3 513 c.210A>G c.(208-210)ggA>ggG p.G70G SPINK6_uc021yff.1_Silent_p.G70G NM_205841 NP_995313 Q6UWN8 ISK6_HUMAN Homo sapiens serine peptidase inhibitor, Kazal type 6 (SPINK6), transcript variant 1, mRNA. 70 Kazal-like. extracellular region serine-type endopeptidase inhibitor activity endometrium(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAGTGGTGGAAAGATTAGCC 0.368000 27 12 0 0 1 0 0 CASKIN1 57524 broad.mit.edu 37 16 2239441 2239441 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr16:2239441G>A uc010bsg.1 - 3 401 c.369C>T c.(367-369)gcC>gcT p.A123A NM_020764 NP_065815 Q8WXD9 CSKI1_HUMAN Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA. 123 signal transduction cytoplasm breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3) 28 GACCATGCTGGGCCGCCAGGT 0.711000 17 6 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768690 31768690 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:31768690C>T uc002nsy.4 - 1 2074 c.2009G>A c.(2008-2010)aGc>aAc p.S670N NM_020856 NP_065907 Q63HK5 TSH3_HUMAN Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA. 670 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GGGGCTGGGGCTGTTCTCCTG 0.662000 23 19 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111397939 111397939 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr4:111397939C>T uc003iab.4 + 0 711 c.369C>T c.(367-369)atC>atT p.I123I NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 123 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) GCATCTCCATCAACCTGAGCG 0.637000 83 56 0 0 1 0 0 PI3 5266 broad.mit.edu 37 20 43804653 43804653 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr20:43804653C>T uc002xng.3 + 1 255 c.231C>T c.(229-231)ccC>ccT p.P77P NM_002638 NP_002629 P19957 ELAF_HUMAN Homo sapiens peptidase inhibitor 3, skin-derived (PI3), mRNA. 77 WAP. copulation proteinaceous extracellular matrix serine-type endopeptidase inhibitor activity p.P77P(2) large_intestine(1)|lung(5)|skin(1) 7 Myeloproliferative disorder(115;0.0122) GCTCCTGCCCCATTATCTTGA 0.498000 68 34 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140734911 140734911 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:140734911C>T uc003ljq.2 + 0 144 c.144C>T c.(142-144)atC>atT p.I48I PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Silent_p.I48I NM_018917 NP_061740 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA. 48 Cadherin 1. 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) TGGGCAACATCGCCAAGGACC 0.627000 49 33 0 0 1 0 0 NPSR1 387129 broad.mit.edu 37 7 34851444 34851444 + Silent SNP C A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr7:34851444C>A uc003teh.1 + 3 575 c.447C>A c.(445-447)gcC>gcA p.A149A NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.A149A|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Silent_p.A149A|NPSR1_uc010kww.1_Silent_p.A138A|NPSR1_uc011kar.1_Intron|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron NM_207173 NP_997056 Q6W5P4 NPSR1_HUMAN Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA. 149 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity p.A149V(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) GATACCATGCCATCGTCTACC 0.478000 51 38 7.05121e-23 7.17531e-23 1 1 0 SMARCA2 6595 broad.mit.edu 37 9 2039611 2039611 + Silent SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr9:2039611C>T uc003zhc.3 + 3 600 c.501C>T c.(499-501)ccC>ccT p.P167P SMARCA2_uc003zhd.3_Silent_p.P167P|SMARCA2_uc010mha.3_Silent_p.P158P NM_003070 NP_003061 P51531 SMCA2_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA. 167 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) TGAGCCAGCCCAACAGAGGTC 0.602000 9 40 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29436869 29436869 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:29436869C>T uc002rmy.3 - 23 4676 c.3724G>A c.(3724-3726)Gaa>Aaa p.E1242K ALK_uc010ymo.2_Missense_Mutation_p.E174K NM_004304 NP_004295 Q9UM73 ALK_HUMAN Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA. 1242 Protein kinase. 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) AAGTGGTTTTCCTCCAAATAC 0.572000 """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 34 18 0 0 1 0 0 NEK10 152110 broad.mit.edu 37 3 27346345 27346345 + Silent SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:27346345G>A uc003cdt.2 - 12 1195 c.921C>T c.(919-921)ctC>ctT p.L307L NM_199347 NP_955379 Q6ZWH5 NEK10_HUMAN Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA. 307 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 TGCTCCAGAGGAGCTTCAAGT 0.522000 42 32 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20566706 20566706 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr16:20566706C>T uc002dhj.4 - 4 691 c.481G>A c.(481-483)Gat>Aat p.D161N ACSM2B_uc002dhk.4_Missense_Mutation_p.D161N|ACSM2B_uc010bwf.1_Missense_Mutation_p.D161N NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 161 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding p.G160G(1) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 ATGACTTCATCCCCAGCAACA 0.453000 82 78 0 0 1 0 0 CASS4 57091 broad.mit.edu 37 20 55027835 55027835 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr20:55027835G>A uc002xxp.2 + 5 1828 c.1603G>A c.(1603-1605)Gaa>Aaa p.E535K CASS4_uc002xxq.4_Missense_Mutation_p.E535K|CASS4_uc010zze.1_Missense_Mutation_p.E481K|CASS4_uc002xxr.2_Missense_Mutation_p.E535K|CASS4_uc010gio.2_Intron NM_001164116 NP_065089 Q9NQ75 CASS4_HUMAN Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA. 535 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 TGAAACAAAGGAAAGCTTGGA 0.498000 34 21 0 0 1 0 0 FAM5B 57795 broad.mit.edu 37 1 177226461 177226461 + Missense_Mutation SNP G A A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:177226461G>A uc001glf.3 + 3 922 c.610G>A c.(610-612)Gac>Aac p.D204N FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.3_Missense_Mutation_p.D99N NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA. 204 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CTACTTCATCGACAGAGAGAG 0.597000 15 23 0 0 1 0 0 ZNF812 729648 broad.mit.edu 37 19 9801781 9801781 + Missense_Mutation SNP C T T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:9801781C>T uc021uop.1 - 5 1044 c.398G>A c.(397-399)gGa>gAa p.G133E ZNF812_uc010xkx.2_Missense_Mutation_p.G29E NM_001199814 NP_001186743 P0C7V5 ZN812_HUMAN Homo sapiens zinc finger protein 812 (ZNF812), mRNA. 133 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AAGTTCCTGTCCAATAGAGGC 0.408000 25 28 0 0 1 0 0 MCOLN2 255231 broad.mit.edu 37 1 85418151 85418153 + In_Frame_Del DEL ATG - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:85418151_85418153delATG uc001dkm.3 - 4 867_869 c.626_628delCAT c.(625-630)tcattc>ttc p.S209del MCOLN2_uc001dkn.3_Non-coding_Transcript NM_153259 NP_694991 Q8IZK6 MCLN2_HUMAN Homo sapiens mucolipin 2 (MCOLN2), mRNA. 209 integral to membrane ion channel activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 18 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) AGTCTGAAGAATGATGAGTTCTT 0.384 --- 55 --- --- 20 --- RPL5 6125 broad.mit.edu 37 1 93299169 93299170 + Frame_Shift_Ins INS - AAAT AAAT rs150375325 byFrequency TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:93299169_93299170insAAAT uc001doz.3 + 2 219_220 c.141_142insAAAT c.(139-144)cccaaafs p.P47fs FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_5'UTR|RPL5_uc001dpd.3_5'Flank NM_000969 NP_000960 P46777 RL5_HUMAN Homo sapiens ribosomal protein L5 (RPL5), mRNA. 47 endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) ACAACACACCCAAATACAGGAT 0.332 --- 36 --- --- 33 --- ITGA10 8515 broad.mit.edu 37 1 145528605 145528606 + Frame_Shift_Del DEL CT - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr1:145528605_145528606delCT uc001eoa.3 + 4 478_479 c.402_403delCT c.(400-405)agctctfs p.S134fs ITGA10_uc001enz.1_3'UTR|ITGA10_uc010oyv.2_Intron|ITGA10_uc009wiw.3_Intron|ITGA10_uc010oyw.2_Frame_Shift_Del_p.S79fs NM_003637 NP_003628 O75578 ITA10_HUMAN Homo sapiens integrin, alpha 10 (ITGA10), mRNA. 134 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity p.S135P(2) NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTTGTGGCAGCTCTGTCTTCAG 0.594 --- 50 --- --- 34 --- TMEM18 129787 broad.mit.edu 37 2 669616 669617 + Frame_Shift_Del DEL TC - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:669616_669617delTC uc002qwl.3 - 4 480_481 c.386_387delGA c.(385-387)agafs p.R129fs TMEM18_uc002qwk.3_Non-coding_Transcript NM_152834 NP_690047 Q96B42 TMM18_HUMAN Homo sapiens transmembrane protein 18 (TMEM18), mRNA. 129 cell migration integral to membrane|nuclear membrane endometrium(1)|large_intestine(1)|lung(7)|ovary(1) 10 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253) all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285) tttcctttcttctctcttGTGC 0.450 --- 28 --- --- 12 --- EIF2AK2 5610 broad.mit.edu 37 2 37347186 37347187 + Frame_Shift_Del DEL TT - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:37347186_37347187delTT uc010ynh.2 - 12 1720_1721 c.1163_1164delAA c.(1162-1164)aaafs p.K388fs EIF2AK2_uc010fab.2_Frame_Shift_Del_p.K347fs|EIF2AK2_uc010yng.2_Frame_Shift_Del_p.K388fs|EIF2AK2_uc010fac.3_Frame_Shift_Del_p.K388fs|EIF2AK2_uc010fad.2_Frame_Shift_Del_p.K335fs NM_002759 NP_002750 P19525 E2AK2_HUMAN Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2), transcript variant 1, mRNA. 388 Protein kinase. evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle cytosol ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1) 22 all_hematologic(82;0.248) AAGCCAAAACTTTGTCTAGTTT 0.347 --- 28 --- --- 15 --- MAP4K4 9448 broad.mit.edu 37 2 102504379 102504380 + Frame_Shift_Del DEL GA - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:102504379_102504380delGA uc002tbc.3 + 29 4097_4098 c.3719_3720delGA c.(3718-3720)ggafs p.G1240fs MAP4K4_uc002tbf.3_Frame_Shift_Del_p.G1193fs|MAP4K4_uc002tbd.3_Frame_Shift_Del_p.G1132fs|MAP4K4_uc010yvy.2_Frame_Shift_Del_p.G1155fs|MAP4K4_uc002tbh.3_Frame_Shift_Del_p.G1085fs|MAP4K4_uc002tbg.3_Frame_Shift_Del_p.G1159fs|MAP4K4_uc002tbi.3_Frame_Shift_Del_p.G962fs|MAP4K4_uc010yvz.2_Frame_Shift_Del_p.G1199fs|MAP4K4_uc002tbk.3_Frame_Shift_Del_p.G614fs|MAP4K4_uc021vlq.1_Frame_Shift_Del_p.G353fs|MAP4K4_uc002tbl.3_Frame_Shift_Del_p.G345fs NM_145687 NP_001229488 O95819 M4K4_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA. 1159 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 CTACAGTGGGGAGAGATGCCTA 0.441 --- 105 --- --- 35 --- R3HDM1 23518 broad.mit.edu 37 2 136389537 136389538 + Frame_Shift_Del DEL TC - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:136389537_136389538delTC uc002tuo.3 + 8 1034_1035 c.664_665delTC c.(664-666)tctfs p.S222fs R3HDM1_uc010fni.3_Frame_Shift_Del_p.S220fs|R3HDM1_uc002tup.3_Frame_Shift_Del_p.S166fs|R3HDM1_uc010zbh.2_Frame_Shift_Del_p.S54fs NM_015361 NP_056176 Q15032 R3HD1_HUMAN Homo sapiens R3H domain containing 1 (R3HDM1), mRNA. 222 R3H. 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) GAGTGGGAAGTCTGTCATAGTA 0.327 --- 79 --- --- 43 --- HOXD8 3234 broad.mit.edu 37 2 176996093 176996094 + Frame_Shift_Del DEL CT - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr2:176996093_176996094delCT uc002uko.3 + 1 1253_1254 c.626_627delCT c.(625-627)actfs p.T209fs AX747372_uc002ukl.1_5'Flank|AX747372_uc002ukm.1_5'Flank|HOXD8_uc002ukn.3_Frame_Shift_Del_p.T25fs|HOXD8_uc002ukp.3_Frame_Shift_Del_p.T208fs NM_019558 NP_062458 P13378 HXD8_HUMAN Homo sapiens homeobox D8 (HOXD8), transcript variant 1, mRNA. 209 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) CGCTTCCAAACTCTAGAGTTGG 0.416 --- 129 --- --- 80 --- ARL13B 200894 broad.mit.edu 37 3 93768262 93768263 + Frame_Shift_Del DEL AG - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr3:93768262_93768263delAG uc003drc.3 + 7 1322_1323 c.1037_1038delAG c.(1036-1038)aagfs p.K346fs ARL13B_uc010hop.3_Frame_Shift_Del_p.K197fs|ARL13B_uc003drf.3_Frame_Shift_Del_p.K346fs|ARL13B_uc003drg.3_Frame_Shift_Del_p.K243fs|ARL13B_uc003drd.3_Frame_Shift_Del_p.K239fs|ARL13B_uc003dre.3_Frame_Shift_Del_p.K331fs NM_182896 NP_001167622 Q3SXY8 AR13B_HUMAN Homo sapiens ADP-ribosylation factor-like 13B (ARL13B), transcript variant 1, mRNA. 346 GTP binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2) 10 AATGGTAAAAAGAAAACTAAGA 0.366 --- 25 --- --- 8 --- C4orf21 55345 broad.mit.edu 37 4 113506804 113506815 + In_Frame_Del DEL TATAAAATGATA - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr4:113506804_113506815delTATAAAATGATA uc003iau.3 - 13 4194_4205 c.3983_3994delTATCATTTTATA c.(3982-3996)atatcattttataca>aca p.ISFY1328del C4orf21_uc003iav.3_Non-coding_Transcript NM_018392 NP_060862 Q86YA3 CD021_HUMAN Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA. 0 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) TTCAATGATGTATAAAATGATATGTCAACTTT 0.335 --- 23 --- --- 14 --- DDX60 55601 broad.mit.edu 37 4 169169387 169169388 + Frame_Shift_Del DEL CA - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr4:169169387_169169388delCA uc003irp.3 - 28 4206_4207 c.3914_3915delTG c.(3913-3915)gtgfs p.V1305fs NM_017631 NP_060101 Q8IY21 DDX60_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA. 1305 Helicase C-terminal. 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) GAGCAAAAACCACAGATTTACA 0.347 --- 43 --- --- 20 --- SEC24A 10802 broad.mit.edu 37 5 133997226 133997228 + In_Frame_Del DEL AAT - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr5:133997226_133997228delAAT uc003kzs.3 + 1 807_809 c.515_517delAAT c.(514-519)caatat>cat p.172_173QY>H SEC24A_uc021ydr.1_In_Frame_Del_p.172_173QY>H|SEC24A_uc011cxu.2_5'UTR NM_021982 NP_068817 O95486 SC24A_HUMAN Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA. 172 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACAAATCATCAATATGTTTCTTC 0.345 --- 55 --- --- 30 --- HIVEP1 3096 broad.mit.edu 37 6 12121702 12121703 + Frame_Shift_Del DEL AG - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:12121702_12121703delAG uc003nac.3 + 3 1853_1854 c.1674_1675delAG c.(1672-1677)acagagfs p.T558fs HIVEP1_uc011diq.2_Non-coding_Transcript NM_002114 NP_002105 P15822 ZEP1_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA. 558 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AAGCTGTGACAGAGTTACCGAA 0.446 --- 56 --- --- 15 --- DOPEY1 23033 broad.mit.edu 37 6 83869530 83869531 + Frame_Shift_Del DEL TG - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:83869530_83869531delTG uc011dyy.2 + 36 7046_7047 c.6786_6787delTG c.(6784-6789)tctgtgfs p.S2262fs DOPEY1_uc003pjs.1_Frame_Shift_Del_p.S2271fs|DOPEY1_uc010kbl.1_Frame_Shift_Del_p.S2262fs|DOPEY1_uc003pjt.3_Non-coding_Transcript NM_001199942 NP_001186871 Q5JWR5 DOP1_HUMAN Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA. 2271 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) CAGGGCCCTCTGTGGCTGGTCT 0.465 --- 67 --- --- 23 --- CYB5R4 51167 broad.mit.edu 37 6 84627749 84627750 + Frame_Shift_Del DEL AG - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr6:84627749_84627750delAG uc003pkf.3 + 5 603_604 c.471_472delAG c.(469-474)acagatfs p.T157fs NM_016230 NP_057314 Q7L1T6 NB5R4_HUMAN Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA. 157 cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) GCCAAGTGACAGATACACTTGC 0.287 --- 50 --- --- 33 --- DLC1 10395 broad.mit.edu 37 8 12943882 12943882 + Frame_Shift_Del DEL A - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr8:12943882delA uc003wwm.2 - 16 4827 c.4383delT c.(4381-4383)gttfs p.V1461fs DLC1_uc003wwk.1_Frame_Shift_Del_p.V1024fs|DLC1_uc003wwl.1_Frame_Shift_Del_p.V1058fs|DLC1_uc011kxx.1_Frame_Shift_Del_p.V950fs NM_182643 NP_872584 Q96QB1 RHG07_HUMAN Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA. 1461 START. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding p.R1460M(1) NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 AGAGCACATTAACCCTCACAC 0.478 --- 54 --- --- 60 --- PSIP1 11168 broad.mit.edu 37 9 15472710 15472711 + Frame_Shift_Del DEL TC - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr9:15472710_15472711delTC uc003zlv.4 - 9 1226_1227 c.896_897delGA c.(895-897)agafs p.R299fs PSIP1_uc003zlw.4_Frame_Shift_Del_p.R299fs|PSIP1_uc003zlz.4_Frame_Shift_Del_p.R299fs|PSIP1_uc003zma.4_Frame_Shift_Del_p.R290fs|PSIP1_uc003zly.3_Frame_Shift_Del_p.R299fs NM_033222 NP_150091 O75475 PSIP1_HUMAN Homo sapiens PC4 and SFRS1 interacting protein 1 (PSIP1), transcript variant 2, mRNA. 299 initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin DNA secondary structure binding|RNA polymerase II transcription coactivator activity|activating transcription factor binding|chromatin binding breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1) 9 GBM - Glioblastoma multiforme(50;2.38e-06) GCATATTCCTTCTGTGAGCAGT 0.371 --- 10 --- --- 55 --- ABL1 25 broad.mit.edu 37 9 133760887 133760888 + Frame_Shift_Del DEL TG - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr9:133760887_133760888delTG uc004bzw.3 + 10 3213_3214 c.3210_3211delTG c.(3208-3213)tatgtgfs p.Y1070fs ABL1_uc004bzv.3_Frame_Shift_Del_p.Y1089fs NM_005157 NP_005148 P00519 ABL1_HUMAN Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA. 1070 F-actin-binding. DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) GCGTGAGCTATGTGGATTCCAT 0.564 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" --- 71 --- --- 40 --- H19 283120 broad.mit.edu 37 11 2016742 2016743 + RNA DEL AG - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:2016742_2016743delAG uc021qbx.1 - 0 c.61_62delCT H19_uc021qby.1_Non-coding_Transcript|H19_uc001lva.4_Non-coding_Transcript|H19_uc021qbz.1_Non-coding_Transcript Homo sapiens PRO2605 mRNA, complete cds. CGGGGGAAACAGAGTCGTGGAG 0.470 Beckwith-Wiedemann syndrome --- 8 --- --- 5 --- OR4A15 81328 broad.mit.edu 37 11 55136178 55136179 + Frame_Shift_Del DEL TG - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr11:55136178_55136179delTG uc010rif.2 + 0 819_820 c.819_820delTG c.(817-822)actgtgfs p.T273fs NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA. 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 CCCACGTCACTGTGGTCATTTT 0.401 --- 142 --- --- 63 --- PHB2 11331 broad.mit.edu 37 12 7077150 7077151 + Frame_Shift_Del DEL CT - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr12:7077150_7077151delCT uc021quf.1 - 4 721_722 c.511_512delAG c.(511-513)aggfs p.R171fs PHB2_uc021qug.1_Frame_Shift_Del_p.R171fs|PHB2_uc010sft.1_Frame_Shift_Del_p.R171fs|PHB2_uc010sfu.1_Frame_Shift_Del_p.R171fs|SCARNA12_uc001qsg.3_5'Flank NM_007273 NP_001138303 Q99623 PHB2_HUMAN Homo sapiens prohibitin 2 (PHB2), transcript variant 2, mRNA. 171 Necessary for transcriptional repression. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial inner membrane|nucleus estrogen receptor binding|receptor activity ovary(2)|pancreas(1) 3 GTCCTTGGCCCTCTCTGTCAGC 0.579 --- 93 --- --- 29 --- MRPS31 10240 broad.mit.edu 37 13 41341131 41341132 + Frame_Shift_Del DEL CT - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr13:41341131_41341132delCT uc001uxm.4 - 1 265_266 c.190_191delAG c.(190-192)agtfs p.S64fs NM_005830 NP_005821 Q92665 RT31_HUMAN Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA. 64 mitochondrion|ribosome protein domain specific binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706) ACAGATCACACTGTTAGTGCCA 0.342 --- 68 --- --- 7 --- SPINT1 6692 broad.mit.edu 37 15 41146652 41146653 + Frame_Shift_Del DEL AC - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr15:41146652_41146653delAC uc001zna.3 + 6 1250_1251 c.1046_1047delAC c.(1045-1047)gacfs p.D349fs SPINT1_uc001znb.3_Frame_Shift_Del_p.D333fs|SPINT1_uc001znc.3_Frame_Shift_Del_p.D333fs|SPINT1_uc010ucs.2_Frame_Shift_Del_p.D340fs NM_181642 NP_857593 O43278 SPIT1_HUMAN Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA. 349 LDL-receptor class A. 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) TGCTGCATCGACAGTTTCCTGG 0.614 --- 45 --- --- 35 --- CDAN1 146059 broad.mit.edu 37 15 43028089 43028090 + Frame_Shift_Del DEL TC - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr15:43028089_43028090delTC uc001zql.3 - 2 873_874 c.756_757delGA c.(754-759)gagatgfs p.E252fs CDAN1_uc001zqk.3_5'Flank|CDAN1_uc010bcx.1_5'Flank|BC037861_uc001zqm.3_5'Flank NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA. 252 integral to membrane protein binding endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 24 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) TTCCTGAGCATCTCTCGCTCCT 0.589 --- 44 --- --- 42 --- CTRL 1506 broad.mit.edu 37 16 67964690 67964692 + In_Frame_Del DEL ACA - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr16:67964690_67964692delACA uc002euw.3 - 3 278_280 c.255_257delTGT c.(253-258)gttgtc>gtc p.85_86VV>V PSMB10_uc002eux.2_3'UTR NM_001907 NP_001898 P40313 CTRL_HUMAN Homo sapiens chymotrypsin-like (CTRL), mRNA. 85 Peptidase S1. digestion|proteolysis extracellular space serine-type endopeptidase activity kidney(1)|large_intestine(2)|urinary_tract(1) 4 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) CTCGCCCAGGACAACAAAATGGC 0.635 --- 58 --- --- 37 --- FTSJD1 55783 broad.mit.edu 37 16 71318700 71318701 + Frame_Shift_Del DEL AT - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr16:71318700_71318701delAT uc021tkr.1 - 0 1123_1124 c.1123_1124delAT c.(1123-1125)attfs p.I375fs FTSJD1_uc010cga.3_Frame_Shift_Del_p.I375fs|FTSJD1_uc002ezy.4_Frame_Shift_Del_p.I375fs|FTSJD1_uc002ezz.4_Frame_Shift_Del_p.I375fs NM_018348 NP_060818 Q8IYT2 FTSJ1_HUMAN Homo sapiens FtsJ methyltransferase domain containing 1 (FTSJD1), transcript variant 1, mRNA. 375 integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GTTTTCAGAAATAGTCTCTAGC 0.337 --- 18 --- --- 21 --- INCA1 388324 broad.mit.edu 37 17 4891810 4891812 + In_Frame_Del DEL CCT - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr17:4891810_4891812delCCT uc002gak.3 - 7 879_881 c.599_601delAGG c.(598-603)gaggct>gct p.E200del CAMTA2_uc010cku.2_5'Flank|CAMTA2_uc002gag.2_5'Flank|CAMTA2_uc002gah.2_5'Flank|CAMTA2_uc002gai.2_5'Flank|CAMTA2_uc010vsu.2_5'Flank|INCA1_uc002gam.3_In_Frame_Del_p.E185del|INCA1_uc002gaj.3_In_Frame_Del_p.E200del|INCA1_uc002gal.3_In_Frame_Del_p.E185del NM_001167987 NP_001161459 Q0VD86 INCA1_HUMAN Homo sapiens inhibitor of CDK, cyclin A1 interacting protein 1 (INCA1), transcript variant 2, mRNA. 200 nucleus upper_aerodigestive_tract(1) 1 GAGGCACAAGCCTCCTCCTGATC 0.532 --- 9 --- --- 30 --- TP53 7157 broad.mit.edu 37 17 7577112 7577113 + Frame_Shift_Del DEL CA - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr17:7577112_7577113delCA uc002gim.2 - 7 1019_1020 c.825_826delTG c.(823-828)tgtgccfs p.C275fs TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.C275fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.C143fs|TP53_uc010cnf.1_Frame_Shift_Del_p.C143fs|TP53_uc002gii.1_Frame_Shift_Del_p.C143fs|TP53_uc010cni.1_Frame_Shift_Del_p.C275fs|TP53_uc010cnh.1_Frame_Shift_Del_p.C275fs|TP53_uc002gij.2_Frame_Shift_Del_p.C275fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 275 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C275Y(53)|p.C275F(35)|p.A276P(29)|p.V274F(19)|p.A276S(18)|p.V274A(16)|p.C275W(14)|p.A276T(14)|p.V274L(10)|p.C275C(8)|p.C275R(8)|p.V274D(8)|p.0?(8)|p.C275G(7)|p.A276V(7)|p.V274G(7)|p.A276D(6)|p.A276G(4)|p.V274I(4)|p.C275fs*70(3)|p.V274V(3)|p.A276_R283delACPGRDRR(2)|p.A276fs*64(2)|p.A276fs*68(2)|p.A276fs*69(2)|p.R273_C275delRVC(2)|p.C275_A276ins10(2)|p.V274_P278del(2)|p.C275*(2)|p.F270_D281del12(2)|p.C275fs*31(2)|p.A276fs*31(2)|p.C275_R283delCACPGRDRR(2)|p.A276fs*70(2)|p.?(2)|p.L265_K305del41(2)|p.A276_C277delAC(2)|p.C275S(2)|p.C275fs*67(2)|p.V272_K292del21(2)|p.C275fs*20(2)|p.A276A(2)|p.A276fs*29(2)|p.V274fs*71(1)|p.S269fs*21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCAGGACAGGCACAAACACGCA 0.550 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) --- 4 --- --- 17 --- AOC2 314 broad.mit.edu 37 17 40997726 40997727 + Frame_Shift_Del DEL GT - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr17:40997726_40997727delGT uc002ibu.3 + 0 1118_1119 c.1083_1084delGT c.(1081-1086)gagtgtfs p.E361fs AOC2_uc002ibt.3_Frame_Shift_Del_p.E361fs NM_009590 NP_033720 O75106 AOC2_HUMAN Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA. 361 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2) 30 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) GTGTCCAGGAGTGTGTATCTAT 0.530 --- 23 --- --- 71 --- PRKAR1A 5573 broad.mit.edu 37 17 66526578 66526581 + Frame_Shift_Del DEL ACTG - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr17:66526578_66526581delACTG uc002jhg.3 + 10 1314_1317 c.1134_1137delACTG c.(1132-1137)tcactgfs p.S378fs PRKAR1A_uc002jhh.3_Frame_Shift_Del_p.S378fs|PRKAR1A_uc002jhi.3_Frame_Shift_Del_p.S378fs|PRKAR1A_uc002jhj.3_Frame_Shift_Del_p.S378fs|PRKAR1A_uc002jhk.3_Frame_Shift_Del_p.S254fs|PRKAR1A_uc002jhl.3_Frame_Shift_Del_p.S378fs NM_212471 NP_997637 P10644 KAP0_HUMAN Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) (PRKAR1A), transcript variant 2, mRNA. 378 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1) 31 Breast(10;1.64e-13) GTTTTGTGTCACTGTCTGTCTGAA 0.480 """T, Mis, N, F, S""" RET papillary thyroid """myxoma, endocrine, papillary thyroid""" Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of --- 9 --- --- 35 --- ZBTB7A 51341 broad.mit.edu 37 19 4054105 4054107 + In_Frame_Del DEL TCT - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:4054105_4054107delTCT uc002lzh.3 - 1 1199_1201 c.1124_1126delAGA c.(1123-1128)aagatc>atc p.K375del ZBTB7A_uc002lzi.3_In_Frame_Del_p.K375del NM_015898 NP_056982 O95365 ZBT7A_HUMAN Homo sapiens zinc finger and BTB domain containing 7A (ZBTB7A), mRNA. 375 cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) TTGGCTCGGATCTTCTTCTCCAC 0.650 --- 53 --- --- 31 --- ZNF260 339324 broad.mit.edu 37 19 37005633 37005634 + Frame_Shift_Del DEL CA - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:37005633_37005634delCA uc002oee.2 - 3 1429_1430 c.507_508delTG c.(505-510)tgtggafs p.C169fs ZNF260_uc010eey.2_Frame_Shift_Del_p.C169fs|ZNF260_uc002oef.2_Frame_Shift_Del_p.C169fs|ZNF260_uc002oed.2_Frame_Shift_Del_p.C169fs|ZNF260_uc021uti.1_Frame_Shift_Del_p.C169fs NM_001012756 NP_001159510 Q3ZCT1 ZN260_HUMAN Homo sapiens zinc finger protein 260 (ZNF260), transcript variant 1, mRNA. 169 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8) 15 Esophageal squamous(110;0.162) AAGGCTCTTCCACACTGATTAC 0.396 --- 126 --- --- 84 --- ZNF226 7769 broad.mit.edu 37 19 44679960 44679961 + Frame_Shift_Del DEL AG - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr19:44679960_44679961delAG uc002oys.3 + 5 725_726 c.545_546delAG c.(544-546)cagfs p.Q182fs ZNF226_uc002oyp.3_Frame_Shift_Del_p.Q182fs|ZNF226_uc002oyq.3_Frame_Shift_Del_p.Q65fs|ZNF226_uc002oyr.3_Frame_Shift_Del_p.Q65fs|ZNF226_uc002oyt.3_Frame_Shift_Del_p.Q182fs NM_001032372 NP_001027545 Q9NYT6 ZN226_HUMAN Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA. 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) ACTGAGTCACAGAGATTGAACA 0.376 --- 24 --- --- 11 --- ZNF512B 57473 broad.mit.edu 37 20 62595733 62595734 + Frame_Shift_Del DEL TC - - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr20:62595733_62595734delTC uc002yhl.1 - 6 1326_1327 c.1272_1273delGA c.(1270-1275)cagaaafs p.Q424fs NM_020713 NP_065764 Q96KM6 Z512B_HUMAN Homo sapiens zinc finger protein 512B (ZNF512B), mRNA. 424 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) TTGGGTGTTTTCTGTTTCCTTC 0.599 --- 137 --- --- 110 --- UMODL1 89766 broad.mit.edu 37 21 43504228 43504228 + Frame_Shift_Del DEL T - - rs7278485 by1000genomes TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc0e54a-1a48-450b-acb5-574b2ffbfa62 1d6e67e0-edc4-4b90-8f2f-c018056b7267 g.chr21:43504228delT uc002zag.1 + 2 354 c.354delT c.(352-354)cctfs p.P118fs UMODL1_uc002zad.1_Frame_Shift_Del_p.P46fs|UMODL1_uc002zae.1_Frame_Shift_Del_p.P46fs|UMODL1_uc002zaf.1_Frame_Shift_Del_p.P118fs|UMODL1_uc010gow.1_5'Flank|UMODL1_uc002zai.1_5'Flank|UMODL1_uc010gox.1_5'Flank|UMODL1_uc010goy.1_5'Flank|UMODL1_uc002zaj.1_5'Flank|UMODL1_uc010goz.1_5'Flank NM_173568 NP_001186456 Q5DID0 UROL1_HUMAN Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA. 118 WAP. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity p.P117R(1) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 CGTCAAGACCTGGGGCCTGCC 0.572 --- 136 --- --- 73 ---