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 LIM2 3982 broad.mit.edu 37 19 51885677 51885677 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:51885677G>A uc002pwl.2 - 2 490 c.446C>T c.(445-447)tCc>tTc p.S149F LIM2_uc002pwm.2_Missense_Mutation_p.S107F NM_030657 NP_085915 P55344 LMIP_HUMAN Homo sapiens lens intrinsic membrane protein 2, 19kDa (LIM2), transcript variant 1, mRNA. 107 cell-cell junction assembly cell junction|integral to membrane structural constituent of eye lens endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985) CTCACTTGAGGAAAAAAACAT 0.567000 46 44 0 0 0.000781405 0 0 INPP5A 3632 broad.mit.edu 37 10 134463968 134463968 + Missense_Mutation SNP G T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:134463968G>T uc001llp.3 + 3 513 c.265G>T c.(265-267)Gtc>Ttc p.V89F INPP5A_uc001llo.1_Missense_Mutation_p.V89F|INPP5A_uc001llq.3_Missense_Mutation_p.V41F NM_005539 NP_005530 Q14642 I5P1_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA. 89 cell communication membrane PH domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) CAGGGCTCGAGTCTACCTGGA 0.532000 186 56 1.72039e-30 6.31472e-30 0.000781405 1 0 HLA-DQB1 3119 broad.mit.edu 37 6 32629941 32629941 + Missense_Mutation SNP T G G rs9274001 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:32629941T>G uc021yvz.1 - 2 546 c.464A>C c.(463-465)tAt>tCt p.Y155S HLA-DQB1_uc010juc.2_Missense_Mutation_p.Y110S|HLA-DQB1_uc003obw.3_Missense_Mutation_p.Y155S|HLA-DQB1_uc011dqd.2_Missense_Mutation_p.Y155S|HLA-DQB1_uc011dqe.2_3'UTR NM_001243961 NP_001230890 P01920 DQB1_HUMAN Homo sapiens major histocompatibility complex, class II, DQ beta 1 (HLA-DQB1), transcript variant 2, mRNA. 155 Beta-2.|Ig-like C1-type. T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane MHC class II receptor activity breast(1)|large_intestine(1)|lung(1)|pancreas(1) 4 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTGGCCTGGATAGAAATCTGT 0.562000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 26 19 0 0 0.000958276 0 0 USP21 27005 broad.mit.edu 37 1 161130441 161130441 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:161130441C>T uc010pkc.2 + 2 388 c.11C>T c.(10-12)gCc>gTc p.A4V USP21_uc010pkd.2_Missense_Mutation_p.A4V NM_001014443 NP_036607 Q9UK80 UBP21_HUMAN Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA. 4 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3) 29 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) ATGCCCCAGGCCTCTGAGCAC 0.602000 76 20 0 0 0.00188189 0 0 WDR72 256764 broad.mit.edu 37 15 53908078 53908078 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:53908078G>A uc002acj.2 - 14 2367 c.2325C>T c.(2323-2325)tcC>tcT p.S775S WDR72_uc010bfi.1_Silent_p.S775S NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN Homo sapiens WD repeat domain 72 (WDR72), mRNA. 775 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) GCATTTTTTTGGAGATCTTCA 0.403000 36 14 0 0 0.000566183 0 0 FHL5 9457 broad.mit.edu 37 6 97053872 97053872 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:97053872C>T uc003pos.2 + 4 845 c.429C>T c.(427-429)atC>atT p.I143I FHL5_uc003pot.2_Silent_p.I143I NM_020482 NP_065228 Q5TD97 FHL5_HUMAN Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA. 143 LIM zinc-binding 2. nucleus zinc ion binding p.I143I(2)|p.I143N(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) AGCCTTTGATCTCCAAAGAGA 0.413000 18 15 0 0 0.000308642 0 0 SYN3 8224 broad.mit.edu 37 22 33260955 33260955 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:33260955G>A uc003amx.3 - 4 820 c.658C>T c.(658-660)Cct>Tct p.P220S SYN3_uc003amy.3_Missense_Mutation_p.P220S|SYN3_uc003amz.3_Missense_Mutation_p.P219S NM_003490 NP_003481 O14994 SYN3_HUMAN Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA. 220 C; actin-binding and synaptic-vesicle binding. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 AACTTCTCAGGACCCAGGGAA 0.433000 279 45 0 0 0.000781405 0 0 OR4C13 283092 broad.mit.edu 37 11 49974850 49974850 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:49974850G>A uc010rhz.2 + 0 908 c.876G>A c.(874-876)atG>atA p.M292I NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA. 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 ATGCTCAAATGAAAAATGCCA 0.383000 16 6 0 0 0.00116845 0 0 TMC3 342125 broad.mit.edu 37 15 81636269 81636269 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:81636269C>T uc021ssk.1 - 13 1636 c.1636G>A c.(1636-1638)Gag>Aag p.E546K TMC3_uc021ssj.1_Missense_Mutation_p.E546K|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.E546K NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN Homo sapiens transmembrane channel-like 3 (TMC3), mRNA. 546 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 AACTTGCTCTCCAGATCCCAA 0.453000 9 17 0 0 0.00121646 0 0 FAM83A 84985 broad.mit.edu 37 8 124219445 124219445 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:124219445C>T uc003ypv.3 + 4 2836 c.822C>T c.(820-822)ttC>ttT p.F274F FAM83A_uc003ypw.3_Silent_p.F274F|FAM83A_uc003ypx.3_Silent_p.F274F|FAM83A_uc003ypy.3_Silent_p.F218F|FAM83A_uc003ypz.3_Silent_p.F274F NM_032899 NP_116288 Q86UY5 FA83A_HUMAN Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA. 274 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) TCTCCAAGTTCACAGGCCAGG 0.637000 38 8 0 0 0.000274275 0 0 FBN2 2201 broad.mit.edu 37 5 127681079 127681079 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:127681079C>T uc003kuu.3 - 23 3626 c.3187G>A c.(3187-3189)Gat>Aat p.D1063N FBN2_uc003kuv.2_Missense_Mutation_p.D1030N NM_001999 NP_001990 P35556 FBN2_HUMAN Homo sapiens fibrillin 2 (FBN2), mRNA. 1063 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GTAAGAACATCCCCTCGGTTA 0.597000 71 31 0 0 0.00283554 0 0 TACR3 6870 broad.mit.edu 37 4 104640632 104640632 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:104640632G>A uc003hxe.1 - 0 342 c.201C>T c.(199-201)ccC>ccT p.P67P NM_001059 NP_001050 P29371 NK3R_HUMAN Homo sapiens tachykinin receptor 3 (TACR3), mRNA. 67 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) AGGGCTGGGAGGGCGCGGGGG 0.672000 36 22 0 0 0.00229938 0 0 ARAP1 116985 broad.mit.edu 37 11 72404832 72404832 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:72404832G>A uc001osu.3 - 27 3902 c.3713C>T c.(3712-3714)gCg>gTg p.A1238V ARAP1_uc001osv.3_Missense_Mutation_p.A1238V|ARAP1_uc001osr.3_Missense_Mutation_p.A998V|ARAP1_uc001oss.3_Missense_Mutation_p.A993V|ARAP1_uc009yth.3_Missense_Mutation_p.A932V|ARAP1_uc010rre.2_Missense_Mutation_p.A993V NM_001040118 NP_056057 Q96P48 ARAP1_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA. 1238 Ras-associating. 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 CACCTTCTCCGCAAAGTGCAG 0.627000 17 17 0 0 0.00152264 0 0 NEFL 4747 broad.mit.edu 37 8 24813201 24813201 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:24813201C>T uc003xee.3 - 0 931 c.829G>A c.(829-831)Gag>Aag p.E277K NM_006158 NP_006149 P07196 NFL_HUMAN Homo sapiens neurofilament, light polypeptide (NEFL), mRNA. 277 Linker 2.|Rod. anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2) 21 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) AACCATTCCTCAGCGTTCTGC 0.652000 19 17 0 0 0.000566183 0 0 NMUR2 56923 broad.mit.edu 37 5 151784643 151784643 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:151784643G>A uc003luv.2 - 0 198 c.32C>T c.(31-33)tCc>tTc p.S11F NM_020167 NP_064552 Q9GZQ4 NMUR2_HUMAN Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA. 11 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) GTAGATCCAGGAAGCATTCTG 0.498000 86 25 0 0 0.00106085 0 0 ABCC6 368 broad.mit.edu 37 16 16315560 16315560 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:16315560G>A uc002den.4 - 1 202 c.165C>T c.(163-165)atC>atT p.I55I ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Silent_p.I55I|ABCC6_uc002deo.4_Silent_p.I55I NM_001171 NP_001162 O95255 MRP6_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA. 55 response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CATGGTGGTGGATGAAGAGGA 0.617000 22 8 0 0 0.000978159 0 0 PDE4B 5142 broad.mit.edu 37 1 66833690 66833690 + Missense_Mutation SNP C T T rs151031090 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:66833690C>T uc001dcn.3 + 14 1795 c.1604C>T c.(1603-1605)aCg>aTg p.T535M PDE4B_uc009war.3_Missense_Mutation_p.T443M|PDE4B_uc001dco.3_Missense_Mutation_p.T535M|PDE4B_uc001dcp.3_Missense_Mutation_p.T520M|PDE4B_uc001dcq.3_Missense_Mutation_p.T363M|PDE4B_uc009was.3_Missense_Mutation_p.T302M NM_001037341 NP_002591 Q07343 PDE4B_HUMAN Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA. 535 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) ATGGTAGAAACGAAGAAAGTT 0.368000 30 9 0 0 0.000274275 0 0 RSPH10B 222967 broad.mit.edu 37 7 5998705 5998705 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:5998705G>A uc003sph.1 - 6 849 c.578C>T c.(577-579)tCc>tTc p.S193F RSPH10B_uc003spg.1_Missense_Mutation_p.S40F|RSPH10B_uc010ktd.1_Missense_Mutation_p.S193F|RSPH10B_uc011jwk.2_Intron|RSPH10B_uc021zze.1_5'Flank NM_173565 NP_775836 B2RC85 R10B2_HUMAN Homo sapiens radial spoke head 10 homolog B (Chlamydomonas) (RSPH10B), mRNA. 193 breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4) 11 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0974) GTAATAAATGGAGCCCTGAAA 0.403000 58 22 0 0 0.000878237 0 0 DAXX 1616 broad.mit.edu 37 6 33289089 33289089 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:33289089G>A uc003oec.3 - 2 667 c.463C>T c.(463-465)Ccc>Tcc p.P155S DAXX_uc021ywn.1_Missense_Mutation_p.P155S|DAXX_uc021ywo.1_Missense_Mutation_p.P155S|DAXX_uc011dre.2_Missense_Mutation_p.P167S|DAXX_uc003oed.3_Missense_Mutation_p.P155S|DAXX_uc011drd.2_Missense_Mutation_p.P80S|DAXX_uc010juw.2_Missense_Mutation_p.P80S NM_001350 NP_001241646 Q9UER7 DAXX_HUMAN Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA. 155 Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent PML body|chromosome, centromeric region|cytosol|nucleolus androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 TTCCCAGAGGGCTCATTGGAG 0.557000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 37 25 0 0 0.000720815 0 0 ITGAD 3681 broad.mit.edu 37 16 31429642 31429642 + Silent SNP C T T rs139262186 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:31429642C>T uc010cap.1 + 21 2689 c.2640C>T c.(2638-2640)ttC>ttT p.F880F ITGAD_uc002ebv.1_Silent_p.F879F NM_005353 NP_005344 Q13349 ITAD_HUMAN Homo sapiens integrin, alpha D (ITGAD), mRNA. 879 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TAGTCACATTCGATGTCTCCT 0.562000 51 18 0 0 0.00278032 0 0 LRTM1 57408 broad.mit.edu 37 3 54958920 54958920 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:54958920G>A uc003dhl.3 - 1 464 c.330C>T c.(328-330)ctC>ctT p.L110L CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron NM_020678 NP_065729 Q9HBL6 LRTM1_HUMAN Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA. 110 integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) CCAGGGAAAGGAGTGAATTCT 0.468000 13 39 0 0 0.00148497 0 0 IQCH 64799 broad.mit.edu 37 15 67571772 67571772 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:67571772C>T uc002aqo.2 + 3 406 c.309C>T c.(307-309)ttC>ttT p.F103F IQCH_uc010ujv.2_5'UTR|IQCH_uc002aqn.2_Intron|IQCH_uc002aqp.2_Intron|IQCH_uc002aqq.2_Intron|IQCH_uc002aqm.3_Silent_p.F103F NM_001031715 NP_001026885 Q86VS3 IQCH_HUMAN Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA. 103 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) CATTTATTTTCCCTCAGGAAT 0.343000 12 30 0 0 0.000814825 0 0 C1orf173 127254 broad.mit.edu 37 1 75037352 75037352 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:75037352C>T uc001dgg.3 - 13 4261 c.4042G>A c.(4042-4044)Gaa>Aaa p.E1348K NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 1348 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCTGCCGTTTCACCACCTCCG 0.532000 72 59 0 0 0.000781405 0 0 TMEM156 80008 broad.mit.edu 37 4 38995404 38995404 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:38995404C>T uc003gto.3 - 2 681 c.573G>A c.(571-573)ccG>ccA p.P191P TMEM156_uc010ifj.3_Silent_p.P191P NM_024943 NP_079219 Q8N614 TM156_HUMAN Homo sapiens transmembrane protein 156 (TMEM156), mRNA. 191 integral to membrane endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 TACAATCATTCGGGTATTCCA 0.353000 64 32 0 0 0.00178596 0 0 IFNA21 3452 broad.mit.edu 37 9 21166166 21166166 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:21166166C>T uc003zom.2 - 0 494 c.446G>A c.(445-447)aGa>aAa p.R149K NM_002175 NP_002166 P01568 IFN21_HUMAN Homo sapiens interferon, alpha 21 (IFNA21), mRNA. 149 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 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3) 14 GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) AAGAGTGATTCTTTGGAAGTA 0.448000 8 47 0 0 0.000781405 0 0 ZNF99 7652 broad.mit.edu 37 19 22940868 22940868 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:22940868G>A uc021urt.1 - 3 1998 c.1843C>T c.(1843-1845)Cat>Tat p.H615Y NM_001080409 NP_001073878 Homo sapiens zinc finger protein 99 (ZNF99), mRNA. NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TTTCCAGTATGAATTATCTGA 0.383000 16 9 0 0 0.000673444 0 0 OBSCN 84033 broad.mit.edu 37 1 228402506 228402506 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:228402506C>T uc009xez.1 + 4 1579 c.1535C>T c.(1534-1536)cCc>cTc p.P512L OBSCN_uc001hsn.3_Missense_Mutation_p.P512L|AK056556_uc001hsm.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 512 Fibronectin type-III 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGGAAGCCTCCCCTGCAACCC 0.612000 20 4 0 0 0.000602214 0 0 RUFY3 22902 broad.mit.edu 37 4 71630223 71630223 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:71630223C>T uc003hfr.3 + 3 1097 c.502C>T c.(502-504)Cgt>Tgt p.R168C RUFY3_uc003hfp.4_Missense_Mutation_p.R228C|RUFY3_uc003hfq.3_Missense_Mutation_p.R168C|RUFY3_uc011cax.2_Missense_Mutation_p.R186C|RUFY3_uc011cay.2_Missense_Mutation_p.R104C NM_001037442 NP_001032519 Q7L099 RUFY3_HUMAN Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA. 168 RUN. negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) AGCCTGGCTTCGTTTGGCATT 0.368000 70 27 0 0 0.00178596 0 0 MUC16 94025 broad.mit.edu 37 19 9072482 9072482 + Silent SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9072482A>T uc002mkp.3 - 2 15168 c.14964T>A c.(14962-14964)acT>acA p.T4988T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4990 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 CCATGGTAAAAGTATCCTGTG 0.468000 40 23 0 0 0.000720815 0 0 KIAA1324 57535 broad.mit.edu 37 1 109704588 109704589 + Missense_Mutation DNP CC AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:109704588_109704589CC>AA uc021orb.1 + 1 447_448 c.226_227CC>AA c.(226-228)ccg>AAg p.P76K KIAA1324_uc009wex.2_Missense_Mutation_p.P76K|KIAA1324_uc010ovg.2_Intron|KIAA1324_uc009wey.3_Missense_Mutation_p.P76K NM_020775 NP_065826 Q6UXG2 K1324_HUMAN Homo sapiens KIAA1324 (KIAA1324), mRNA. 76 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) GCCGCATACCCCGGGCCTGTGC 0.619000 510 13 0 0 6.4e-05 0 0 TELO2 9894 broad.mit.edu 37 16 1550438 1550438 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:1550438C>T uc002cly.3 + 7 1384 c.1093C>T c.(1093-1095)Ctc>Ttc p.L365F TELO2_uc010uvg.1_Missense_Mutation_p.L365F NM_016111 NP_057195 Q9Y4R8 TELO2_HUMAN Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA. 365 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) CAAGGCTGTCCTCATCTGCCT 0.701000 16 5 0 0 0.00198382 0 0 ITGB2 3689 broad.mit.edu 37 21 46313378 46313378 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:46313378C>T uc002zgd.2 - 8 1209 c.1165G>A c.(1165-1167)Gga>Aga p.G389R ITGB2_uc002zgf.3_Missense_Mutation_p.G389R|ITGB2_uc011afl.1_Missense_Mutation_p.G311R|ITGB2_uc010gpw.2_Missense_Mutation_p.G332R|ITGB2_uc002zgg.2_Missense_Mutation_p.G389R NM_001127491 NP_001120963 P05107 ITB2_HUMAN Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA. 389 apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) TGCGTCACTCCATTGCTGCAG 0.602000 OREG0026255 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 82 34 0 0 0.000814825 0 0 LIPG 9388 broad.mit.edu 37 18 47101752 47101752 + Silent SNP C G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:47101752C>G uc002ldv.3 + 4 837 c.585C>G c.(583-585)gcC>gcG p.A195A LIPG_uc002ldu.1_Silent_p.A195A|LIPG_uc010xdh.2_Intron NM_006033 NP_006024 Q9Y5X9 LIPE_HUMAN Homo sapiens lipase, endothelial (LIPG), mRNA. 195 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 TGGATCCTGCCGGGCCCATGT 0.552000 57 11 0 0 0.000978159 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43846459 43846459 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:43846459C>T uc010skx.2 - 12 1800 c.1800G>A c.(1798-1800)atG>atA p.M600I NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 600 TSP type-1 1. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ATCGAAATTTCATCCTGCGGC 0.388000 5 11 0 0 0.000978159 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813867 106813867 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:106813867G>A uc003ymd.3 + 7 1580 c.1557G>A c.(1555-1557)aaG>aaA p.K519K ZFPM2_uc011lhs.2_Silent_p.K250K NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 519 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TCTTAGCTAAGATGTCTGAAC 0.498000 72 19 0 0 0.000958276 0 0 SLC44A3 126969 broad.mit.edu 37 1 95307626 95307626 + Missense_Mutation SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:95307626A>C uc001dqv.4 + 7 938 c.831A>C c.(829-831)gaA>gaC p.E277D SLC44A3_uc001dqx.4_Missense_Mutation_p.E277D|SLC44A3_uc010otq.2_Missense_Mutation_p.E209D|SLC44A3_uc010otr.2_Missense_Mutation_p.E241D|SLC44A3_uc001dqw.4_Missense_Mutation_p.E229D|SLC44A3_uc010ots.2_Missense_Mutation_p.E197D|SLC44A3_uc009wds.3_Missense_Mutation_p.E180D|SLC44A3_uc010ott.2_Missense_Mutation_p.E197D|SLC44A3_uc010otu.1_Non-coding_Transcript NM_001114106 NP_689582 Q8N4M1 CTL3_HUMAN Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA. 277 integral to membrane|plasma membrane choline transmembrane transporter activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1) 23 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) TGGACACAGAAAGGGAAAATA 0.468000 252 45 0 0 0.00285205 0 0 FAM3D 131177 broad.mit.edu 37 3 58629399 58629399 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:58629399G>A uc003dkq.3 - 5 609 c.312C>T c.(310-312)gcC>gcT p.A104A NM_138805 NP_620160 Q96BQ1 FAM3D_HUMAN Homo sapiens family with sequence similarity 3, member D (FAM3D), mRNA. 104 negative regulation of insulin secretion extracellular region cytokine activity large_intestine(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169) CATTCACCAGGGCGATGTTTA 0.498000 95 20 0 0 0.000586117 0 0 TAAR1 134864 broad.mit.edu 37 6 132966171 132966171 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:132966171G>A uc003qdm.1 - 0 972 c.972C>T c.(970-972)ttC>ttT p.F324F NM_138327 NP_612200 Q96RJ0 TAAR1_HUMAN Homo sapiens trace amine associated receptor 1 (TAAR1), mRNA. 324 plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11) 18 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) AATCTTTTTGGAAAATTTTAC 0.299000 9 6 0 0 0.00198382 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64666919 64666919 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:64666919G>A uc003dmg.3 - 2 669 c.637C>T c.(637-639)Cag>Tag p.Q213* ADAMTS9_uc011bfo.2_Nonsense_Mutation_p.Q213*|ADAMTS9_uc003dmh.1_Nonsense_Mutation_p.Q42*|ADAMTS9_uc003dmk.1_Nonsense_Mutation_p.Q213* NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA. 213 glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) GGCTCTCTCTGGGGGGCGCTG 0.458000 424 109 0 0 0.000781405 0 0 SVEP1 79987 broad.mit.edu 37 9 113169812 113169812 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:113169812C>T uc010mtz.3 - 37 8405 c.8068G>A c.(8068-8070)Gaa>Aaa p.E2690K SVEP1_uc010mty.3_Missense_Mutation_p.E616K NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 2690 Sushi 21. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CCCAGAAGTTCATATCCTGGA 0.453000 160 49 0 0 0.000781405 0 0 FOLH1 2346 broad.mit.edu 37 11 49175808 49175808 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:49175808C>T uc001ngy.3 - 15 2121 c.1860G>A c.(1858-1860)caG>caA p.Q620Q FOLH1_uc001ngx.3_Silent_p.Q52Q|FOLH1_uc009yly.3_Silent_p.Q605Q|FOLH1_uc009ylz.3_Silent_p.Q605Q|FOLH1_uc001ngz.3_Silent_p.Q620Q|FOLH1_uc009yma.3_Silent_p.Q312Q NM_004476 NP_001180402 Q04609 FOLH1_HUMAN Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA. 620 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TCTTCATTTCCTGTGGATGTT 0.343000 30 18 0 0 0.00121646 0 0 GGTLC1 92086 broad.mit.edu 37 20 23966376 23966376 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:23966376C>T uc002wts.3 - 4 592 c.459G>A c.(457-459)tgG>tgA p.W153* GGTLC1_uc002wtu.3_Nonsense_Mutation_p.W153* NM_178312 NP_842564 Q9BX51 GGTL1_HUMAN Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA. 153 gamma-glutamyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 CCTCCACGGCCCACTTCACGT 0.612000 73 29 0 0 0.00283554 0 0 CABP2 51475 broad.mit.edu 37 11 67287409 67287409 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:67287409G>A uc001ome.1 - 5 598 c.510C>T c.(508-510)ttC>ttT p.F170F CABP2_uc001omc.1_Silent_p.F164F Q9NPB3 CABP2_HUMAN Homo sapiens calcium binding protein 2 (CABP2), mRNA. 164 EF-hand 3. signal transduction Golgi apparatus|perinuclear region of cytoplasm|plasma membrane calcium ion binding endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 9 CATTGGTGTCGAACTGTGGCG 0.697000 12 7 0 0 0.000157383 0 0 FMO2 2327 broad.mit.edu 37 1 171168578 171168578 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:171168578G>A uc001ghk.1 + 4 695 c.578G>A c.(577-579)gGa>gAa p.G193E FMO2_uc010pmd.1_Intron NM_001460 NP_001451 Q99518 FMO2_HUMAN Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA. 193 NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ATTGGAATGGGAAACTCAGGC 0.493000 100 14 0 0 0.000958276 0 0 EMILIN3 90187 broad.mit.edu 37 20 39990818 39990818 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:39990818C>T uc002xjy.1 - 3 1615 c.1391G>A c.(1390-1392)gGc>gAc p.G464D NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA. 464 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) CCCAAAGCCGCCCACTCCCCA 0.647000 95 20 0 0 0.00229938 0 0 EFCAB3 146779 broad.mit.edu 37 17 60493450 60493450 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:60493450G>A uc010wpc.2 + 11 1304 c.1233G>A c.(1231-1233)ggG>ggA p.G411G EFCAB3_uc002izu.2_Silent_p.G359G NM_001144933 NP_001138405 Q8N7B9 EFCB3_HUMAN Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA. 359 calcium ion binding cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) AGATCCGAGGGGATTTGATTG 0.423000 101 29 0 0 0.00106085 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144865845 144865845 + Missense_Mutation SNP C T T rs148146447 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:144865845C>T uc021ouh.1 - 34 6037 c.5735G>A c.(5734-5736)cGa>cAa p.R1912Q NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.R1912Q|PDE4DIP_uc001elx.4_Missense_Mutation_p.R1806Q|PDE4DIP_uc001elv.4_Missense_Mutation_p.R919Q|PDE4DIP_uc001ema.3_Missense_Mutation_p.R99Q NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 1912 cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTGAAGTCTTCGATTGTCTTC 0.478000 T PDGFRB MPD 589 108 0 0 0.000781405 0 0 TCR-alpha 0 broad.mit.edu 37 14 22574118 22574118 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:22574118C>T uc001wdb.2 + 1 375 c.338C>T c.(337-339)gCc>gTc p.A113V TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron SubName: Full=cDNA FLJ59026; TACCTCTGTGCCTTTACACAG 0.473000 6 11 0 0 0.00136819 0 0 CECR2 27443 broad.mit.edu 37 22 18021603 18021603 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:18021603C>T uc010gqw.1 + 13 1888 c.1888C>T c.(1888-1890)Ccg>Tcg p.P630S CECR2_uc010gqv.1_Missense_Mutation_p.P491S|CECR2_uc002zml.2_Missense_Mutation_p.P491S NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA. 674 DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) CTCTGGAGTCCCGGAGCCACA 0.597000 93 8 0 0 0.000157383 0 0 HERC5 51191 broad.mit.edu 37 4 89390312 89390312 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:89390312C>T uc003hrt.3 + 8 1292 c.1139C>T c.(1138-1140)tCa>tTa p.S380L HERC5_uc011cdm.2_Missense_Mutation_p.S18L NM_016323 NP_057407 Q9UII4 HERC5_HUMAN Homo sapiens hect domain and RLD 5 (HERC5), mRNA. 380 ISG15-protein conjugation|innate immune response|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) TTACAGAATTCATATGTTAAT 0.373000 11 14 0 0 0.000308642 0 0 RNF150 57484 broad.mit.edu 37 4 142053480 142053480 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:142053480C>T uc003iio.1 - 1 1138 c.484_splice c.e1+1 p.G162_splice RNF150_uc010iok.1_Splice_Site_p.G162_splice|RNF150_uc003iip.1_Splice_Site_p.G162_splice NM_020724 NP_065775 Q9ULK6 RN150_HUMAN Homo sapiens ring finger protein 150 (RNF150), mRNA. 162 PA. integral to membrane zinc ion binding breast(1)|large_intestine(10)|lung(7)|ovary(1) 19 all_hematologic(180;0.162) GCCACTCACCCGCGTGGGGCA 0.667000 4 3 0 0 6.4e-05 0 0 LHCGR 3973 broad.mit.edu 37 2 48952827 48952827 + Missense_Mutation SNP C T T rs140788691 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:48952827C>T uc002rwu.4 - 3 441 c.371G>A c.(370-372)cGa>cAa p.R124Q STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Non-coding_Transcript NM_000233 NP_000224 P22888 LSHR_HUMAN Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA. 124 R -> G (in Ref. 1; AAA59515 and 4; CAA59234). male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) GTATTTTAATCGGGGAAGATT 0.368000 61 69 0 0 0.000781405 0 0 BAX 581 broad.mit.edu 37 19 49459483 49459484 + Missense_Mutation DNP CC TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:49459483_49459484CC>TT uc002plk.3 + 3 331_332 c.262_263CC>TT c.(262-264)ccc>TTc p.P88F BAX_uc002plf.1_Missense_Mutation_p.P88F|BAX_uc002plg.1_Missense_Mutation_p.P51F|BAX_uc002plh.1_Missense_Mutation_p.P10F|BAX_uc010xzx.2_Non-coding_Transcript|BAX_uc002plj.3_Missense_Mutation_p.P88F|BAX_uc002pll.3_Missense_Mutation_p.P39F|BAX_uc002plm.3_Missense_Mutation_p.P10F NM_138761 NP_620116 Q07812 BAX_HUMAN Homo sapiens BCL2-associated X protein (BAX), transcript variant alpha, mRNA. 88 B cell apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|cleavage of lamin|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4) 17 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279) CACAGACTCCCCCCGAGAGGTC 0.579000 95 22 0 0 6.4e-05 0 0 KPNA2 3838 broad.mit.edu 37 17 66039435 66039435 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:66039435C>T uc002jgk.3 + 6 1018 c.886C>T c.(886-888)Ccc>Tcc p.P296S KPNA2_uc002jgl.3_Missense_Mutation_p.P296S NM_002266 NP_002257 P52292 IMA2_HUMAN Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1) (KPNA2), mRNA. 296 DNA metabolic process|G2 phase of mitotic cell cycle|M phase specific microtubule process|NLS-bearing substrate import into nucleus|interspecies interaction between organisms|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2) 22 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) AGGAGTTGTGCCCCAACTTGT 0.423000 437 88 0 0 0.000781405 0 0 PTPN23 25930 broad.mit.edu 37 3 47453658 47453658 + Missense_Mutation SNP C G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:47453658C>G uc003crf.1 + 21 4244 c.4148C>G c.(4147-4149)cCg>cGg p.P1383R PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_Missense_Mutation_p.P1253R|BC067356_uc003cri.3_5'Flank NM_015466 NP_056281 Q9H3S7 PTN23_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA. 1383 Tyrosine-protein phosphatase. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CATCAGCGGCCGCTGCACACG 0.627000 59 20 0 0 0.00152264 0 0 CXCR7 57007 broad.mit.edu 37 2 237489786 237489786 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:237489786C>T uc021vys.1 + 0 678 c.678C>T c.(676-678)tcC>tcT p.S226S CXCR7_uc010fyq.3_Silent_p.S226S|CXCR7_uc002vwd.3_Silent_p.S226S NM_020311 NP_064707 P25106 CXCR7_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA. 226 interspecies interaction between organisms integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(2)|skin(1) 4 Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223) Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118) TTCCCTTCTCCATTATCGCTG 0.577000 85 29 0 0 0.00127121 0 0 TLN1 7094 broad.mit.edu 37 9 35719223 35719223 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:35719223A>G uc003zxt.2 - 15 2098 c.1744T>C c.(1744-1746)Tcc>Ccc p.S582P NM_006289 NP_006280 Q9Y490 TLN1_HUMAN Homo sapiens talin 1 (TLN1), mRNA. 582 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GTCAGGTTGGAGGAGATTGTG 0.607000 11 18 0 0 0.00152264 0 0 C4orf22 255119 broad.mit.edu 37 4 81866028 81866028 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:81866028G>A uc010ijp.3 + 5 641 c.592G>A c.(592-594)Gat>Aat p.D198N C4orf22_uc003hmf.3_Missense_Mutation_p.D181N NM_001206997 NP_001193926 Q6V702 CD022_HUMAN Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA. 181 p.L197I(1) NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5) 15 AGTGATTGCCGATAATCCAGA 0.323000 21 25 0 0 0.000878237 0 0 CATSPERG 57828 broad.mit.edu 37 19 38845361 38845361 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:38845361C>T uc002oih.4 + 8 1096 c.1009C>T c.(1009-1011)Cgt>Tgt p.R337C CATSPERG_uc002oig.4_Missense_Mutation_p.R337C|CATSPERG_uc002oif.4_5'UTR|CATSPERG_uc010efw.3_Non-coding_Transcript NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA. 337 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane p.Y336H(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 CAGTTGGATTCGTGTCCTGGC 0.567000 87 26 0 0 0.000720815 0 0 TFPI 7035 broad.mit.edu 37 2 188332640 188332640 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:188332640C>T uc002upy.3 - 6 943 c.648G>A c.(646-648)tgG>tgA p.W216* NM_006287 NP_006278 P10646 TFPI1_HUMAN Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA. 216 blood coagulation, extrinsic pathway extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0554) Coagulation factor VIIa(DB00036) GAGTGAGACACCATGAGGGAC 0.393000 29 10 0 0 0.000442599 0 0 STAB2 55576 broad.mit.edu 37 12 103984744 103984744 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:103984744G>A uc001tjw.3 + 1 337 c.151G>A c.(151-153)Gga>Aga p.G51R NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 51 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 TCTCAACCTTGGAGTCAAGTG 0.423000 24 36 0 0 0.00128727 0 0 COL4A5 1287 broad.mit.edu 37 X 107938566 107938566 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:107938566C>T uc022ccg.1 + 51 5093 c.4891C>T c.(4891-4893)Cgt>Tgt p.R1631C COL4A5_uc004enz.1_Missense_Mutation_p.R1625C NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 1625 Collagen IV NC1. Missing (in APSX). axon guidance collagen type IV extracellular matrix structural constituent|protein binding p.E1631K(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GGAAGAGTTTCGTTCAGCTCC 0.493000 Alport syndrome with Diffuse Leiomyomatosis 33 23 0 0 0.00127121 0 0 COBL 23242 broad.mit.edu 37 7 51095722 51095722 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:51095722G>A uc003tps.3 - 10 3427 c.3242C>T c.(3241-3243)cCa>cTa p.P1081L COBL_uc003tpr.4_Missense_Mutation_p.P1024L|COBL_uc011kcl.2_Missense_Mutation_p.P1024L|COBL_uc003tpp.4_Missense_Mutation_p.P810L|COBL_uc003tpq.4_Missense_Mutation_p.P965L|COBL_uc003tpo.4_Missense_Mutation_p.P566L NM_015198 NP_056013 O75128 COBL_HUMAN Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA. 1024 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) AGATGTGTGTGGAGGGGGTGG 0.632000 39 21 0 0 0.00229938 0 0 ADK 132 broad.mit.edu 37 10 76154057 76154057 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:76154057C>T uc001jwi.3 + 4 526 c.432C>T c.(430-432)atC>atT p.I144I ADK_uc010qlb.2_Silent_p.I144I|ADK_uc001jwj.3_Silent_p.I127I|ADK_uc010qlc.2_Silent_p.I109I NM_006721 NP_006712 P55263 ADK_HUMAN Homo sapiens adenosine kinase (ADK), transcript variant 2, mRNA. 144 purine base metabolic process|purine ribonucleoside salvage cytosol ATP binding|adenosine kinase activity|metal ion binding|phosphotransferase activity, alcohol group as acceptor breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 8 Prostate(51;0.0112)|Ovarian(15;0.148) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811) CTGCATGCATCACTGGTGACA 0.413000 36 22 0 0 0.00047179 0 0 IL17C 27189 broad.mit.edu 37 16 88705457 88705457 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:88705457G>A uc002fla.3 + 1 124 c.75G>A c.(73-75)agG>agA p.R25R NM_013278 NP_037410 Q9P0M4 IL17C_HUMAN Homo sapiens interleukin 17C (IL17C), mRNA. 25 R -> G (in dbSNP:rs11465492). cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response extracellular space|soluble fraction cytokine activity large_intestine(1)|lung(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0477) CCTCCCTCAGGGGGCACCCCC 0.672000 55 38 0 0 0.0025221 0 0 UGT1A1 54658 broad.mit.edu 37 2 234545426 234545426 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:234545426G>A uc002vur.3 + 0 304 c.258G>A c.(256-258)caG>caA p.Q86Q UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Silent_p.Q86Q NM_019075 NP_061948 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA. 88 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) TGGAAGATCAGAACCGGGAAT 0.428000 91 25 0 0 0.00127121 0 0 LRFN2 57497 broad.mit.edu 37 6 40399472 40399472 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:40399472C>T uc003oph.1 - 1 1846 c.1381G>A c.(1381-1383)Gat>Aat p.D461N NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA. 461 Fibronectin type-III. cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) AGTACCTCATCGTCAGAGCAG 0.592000 7 17 0 0 0.000958276 0 0 MIR520G 574484 broad.mit.edu 37 19 54225474 54225474 + RNA SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:54225474A>C uc021vaj.1 + 0 c.55A>C Homo sapiens microRNA 520g (MIR520G), microRNA. CTGAGAAAAAACAAAGTGCTT 0.408000 51 18 0 0 0.000958276 0 0 ARSF 416 broad.mit.edu 37 X 3030406 3030406 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:3030406G>A uc022brz.1 + 10 1718 c.1582G>A c.(1582-1584)Gat>Aat p.D528N ARSF_uc004cre.2_Missense_Mutation_p.D528N|ARSF_uc004crf.2_Missense_Mutation_p.D528N NM_001201538 NP_001188467 P54793 ARSF_HUMAN Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA. 528 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCCCCTCCATGATTTTGTGAT 0.557000 1 44 0 0 0.00285205 0 0 CXADRP3 440224 broad.mit.edu 37 18 14479245 14479245 + RNA SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:14479245C>T uc010xai.2 - 2 c.319G>A Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA. CACAGGAGCACGAAGCGCAGC 0.612000 8 9 0 0 0.000673444 0 0 VAMP4 8674 broad.mit.edu 37 1 171679929 171679929 + Missense_Mutation SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:171679929T>A uc001ghx.2 - 4 569 c.190A>T c.(190-192)Att>Ttt p.I64F VAMP4_uc001ghw.2_Non-coding_Transcript|VAMP4_uc001ghy.2_Missense_Mutation_p.I63F|VAMP4_uc001ghv.2_5'Flank NM_003762 NP_003753 O75379 VAMP4_HUMAN Homo sapiens vesicle-associated membrane protein 4 (VAMP4), transcript variant 1, mRNA. 64 v-SNARE coiled-coil homology. vesicle-mediated transport Golgi membrane|endosome|integral to membrane|lysosome large_intestine(4) 4 all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) ATGACATCAATAACTTCATCC 0.308000 71 19 0 0 0.000958276 0 0 ZDBF2 57683 broad.mit.edu 37 2 207170308 207170308 + Silent SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:207170308C>A uc002vbp.2 + 4 1306 c.1056C>A c.(1054-1056)gcC>gcA p.A352A NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA. 352 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 ACAAGACAGCCTTTTGGGAAC 0.383000 57 10 2.80697e-09 1.02365e-08 0.000978159 1 0 RPL28 6158 broad.mit.edu 37 19 55899332 55899332 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:55899332C>T uc010yga.2 + 3 282 c.240C>T c.(238-240)acC>acT p.T80T RPL28_uc002qkv.3_Silent_p.T80T|RPL28_uc010ygb.2_Silent_p.T80T NM_001136135 NP_001129607 P46779 RL28_HUMAN Homo sapiens ribosomal protein L28 (RPL28), transcript variant 3, mRNA. 80 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|protein binding|structural constituent of ribosome p.R79L(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(1) 6 Breast(117;0.191) Renal(1328;0.245) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0443) ATGTGCGGACCACCATCAACA 0.612000 68 81 0 0 0.000781405 0 0 CXorf22 170063 broad.mit.edu 37 X 35985768 35985768 + Missense_Mutation SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:35985768A>C uc004ddj.3 + 9 1699 c.1633A>C c.(1633-1635)Aag>Cag p.K545Q CXorf22_uc010ngv.3_Non-coding_Transcript NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA. 545 p.K545M(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 TCCCACGGGAAAGTTTGTGGT 0.363000 0 15 0 0 0.000422831 0 0 CLSTN2 64084 broad.mit.edu 37 3 140122557 140122557 + Missense_Mutation SNP C T T rs150165907 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:140122557C>T uc003etn.3 + 2 509 c.319C>T c.(319-321)Cgt>Tgt p.R107C CLSTN2_uc003etm.2_Missense_Mutation_p.R107C NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN Homo sapiens calsyntenin 2 (CLSTN2), mRNA. 107 Cadherin 1. homophilic cell adhesion Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium ion binding p.R107H(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 GGGCCGGCTCCGTGCCAAGAG 0.562000 HNSCC(16;0.037) 104 47 0 0 0.000781405 0 0 ZNF79 7633 broad.mit.edu 37 9 130207219 130207219 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:130207219G>A uc004bqw.4 + 4 1654 c.1240G>A c.(1240-1242)Gag>Aag p.E414K ZNF79_uc011maf.2_Missense_Mutation_p.E390K|ZNF79_uc011mag.2_Missense_Mutation_p.E390K NM_007135 NP_009066 Q15937 ZNF79_HUMAN Homo sapiens zinc finger protein 79 (ZNF79), mRNA. 414 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G413W(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2) 28 CCACACCGGGGAGAAGCCATA 0.483000 51 43 0 0 0.00170553 0 0 DNAH10 196385 broad.mit.edu 37 12 124333331 124333331 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:124333331G>A uc001uft.4 + 32 5675 c.5650G>A c.(5650-5652)Gat>Aat p.D1884N NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 1884 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GGGCTGCTTTGATGAGTTTAA 0.498000 21 9 0 0 0.000274275 0 0 CCKAR 886 broad.mit.edu 37 4 26483788 26483788 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:26483788C>T uc003gse.1 - 4 912 c.759G>A c.(757-759)agG>agA p.R253R NM_000730 NP_000721 P32238 CCKAR_HUMAN Homo sapiens cholecystokinin A receptor (CCKAR), mRNA. 253 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) TGCTAGGTTTCCTTTCTGGGT 0.582000 36 17 0 0 0.00074312 0 0 ABCC4 10257 broad.mit.edu 37 13 95673920 95673920 + Missense_Mutation SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:95673920T>C uc001vmd.4 - 30 4006 c.3887A>G c.(3886-3888)aAt>aGt p.N1296S ABCC4_uc010afj.3_Missense_Mutation_p.N87S|ABCC4_uc010afk.3_Missense_Mutation_p.N1249S NM_005845 NP_005836 O15439 MRP4_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA. 1296 platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) ATGTGGATAATTTCTTTTGAA 0.368000 39 12 0 0 0.000308642 0 0 FLG 2312 broad.mit.edu 37 1 152282040 152282040 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:152282040C>T uc001ezu.1 - 2 5358 c.5322G>A c.(5320-5322)caG>caA p.Q1774Q NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1774 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGGACTCAGACTGTTCATGAG 0.612000 Ichthyosis 254 43 0 0 0.00222228 0 0 MUC16 94025 broad.mit.edu 37 19 9077737 9077737 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9077737G>A uc002mkp.3 - 2 9913 c.9709C>T c.(9709-9711)Ccc>Tcc p.P3237S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3238 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 GTCTCCATGGGAACAGTTGTT 0.527000 115 38 0 0 0.00170553 0 0 IGF2R 3482 broad.mit.edu 37 6 160494835 160494835 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:160494835C>T uc003qta.3 + 34 5142 c.4994C>T c.(4993-4995)cCc>cTc p.P1665L NM_000876 NP_000867 P11717 MPRI_HUMAN Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA. 1665 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) GACTTGTCTCCCCTTATTCAT 0.418000 24 17 0 0 0.00188189 0 0 COL15A1 1306 broad.mit.edu 37 9 101748019 101748019 + Silent SNP C T T rs141708640 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:101748019C>T uc004azb.1 + 2 479 c.273C>T c.(271-273)ttC>ttT p.F91F NM_001855 NP_001846 P39059 COFA1_HUMAN Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA. 91 TSP N-terminal. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TCAGGGACTTCGCCATCAGCG 0.622000 36 15 0 0 0.000566183 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120345286 120345286 + Missense_Mutation SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:120345286A>C uc001pxl.2 + 31 3386 c.3051A>C c.(3049-3051)aaA>aaC p.K1017N ARHGEF12_uc009zat.3_Missense_Mutation_p.K998N|ARHGEF12_uc010rzn.1_Missense_Mutation_p.K914N|ARHGEF12_uc009zau.1_Missense_Mutation_p.K914N NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA. 1017 G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) ATTTAACAAAAAGGAAGATGA 0.323000 T MLL AML 39 39 0 0 0.000781405 0 0 MMP19 4327 broad.mit.edu 37 12 56233442 56233443 + Missense_Mutation DNP GG AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:56233442_56233443GG>AA uc001sib.3 - 4 724_725 c.603_604CC>TT c.(601-606)taccgt>taTTgt p.R202C MMP19_uc001sia.3_5'UTR|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_Intron NM_002429 NP_002420 Q99542 MMP19_HUMAN Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA. 202 angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 26 TTCACCCCACGGTAGGTCCCCT 0.609000 16 4 0 0 6.4e-05 0 0 ABCA6 23460 broad.mit.edu 37 17 67103946 67103946 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:67103946G>A uc002jhw.1 - 17 2455 c.2280C>T c.(2278-2280)ttC>ttT p.F760F NM_080284 NP_525023 Q8N139 ABCA6_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA. 760 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) CCAGATCACTGAAAAGATCTA 0.318000 21 8 0 0 0.000157383 0 0 CACNA1E 777 broad.mit.edu 37 1 181702848 181702848 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:181702848C>T uc009wxt.3 + 20 3419 c.3224C>T c.(3223-3225)cCc>cTc p.P1075L CACNA1E_uc001gow.3_Missense_Mutation_p.P1075L|CACNA1E_uc009wxs.3_Missense_Mutation_p.P1056L|CACNA1E_uc001gox.1_Missense_Mutation_p.P301L NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1075 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GTCGCCATCCCCGACGTGGAC 0.652000 43 8 0 0 0.000274275 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76555069 76555069 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:76555069G>A uc002fex.1 + 14 2546 c.2407G>A c.(2407-2409)Gag>Aag p.E803K CNTNAP4_uc002feu.1_Missense_Mutation_p.E799K|CNTNAP4_uc002fev.1_Missense_Mutation_p.E664K|CNTNAP4_uc010chb.1_Missense_Mutation_p.E727K NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 800 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CTTTGATACCGAGGCTTCATA 0.323000 93 43 0 0 0.000781405 0 0 CASKIN2 57513 broad.mit.edu 37 17 73503700 73503700 + Missense_Mutation SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:73503700T>A uc002joc.3 - 3 759 c.209A>T c.(208-210)gAg>gTg p.E70V CASKIN2_uc010wsc.2_5'UTR|CASKIN2_uc002jod.3_Missense_Mutation_p.E70V NM_020753 NP_001136115 Q8WXE0 CSKI2_HUMAN Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA. 70 cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GGCCTGAGCCTCTAGCAGCAA 0.622000 13 41 0 0 0.000781405 0 0 COL11A1 1301 broad.mit.edu 37 1 103427757 103427757 + Missense_Mutation SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:103427757C>A uc001dum.3 - 39 3443 c.3125G>T c.(3124-3126)gGg>gTg p.G1042V COL11A1_uc001duk.3_Missense_Mutation_p.G226V|COL11A1_uc001dul.3_Missense_Mutation_p.G1030V|COL11A1_uc001dun.3_Missense_Mutation_p.G991V|COL11A1_uc009weh.3_Missense_Mutation_p.G914V NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 1030 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.G1042R(1) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ACCTCTTTCCCCTGGGAAACC 0.383000 124 72 4.81439e-37 1.76777e-36 0.000781405 1 0 CAMK1D 57118 broad.mit.edu 37 10 12870807 12870807 + Missense_Mutation SNP C T T rs148446769 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:12870807C>T uc001ilo.3 + 10 1314 c.1079C>T c.(1078-1080)tCg>tTg p.S360L NM_153498 NP_705718 Q8IU85 KCC1D_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA. 360 Ser-rich. calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity p.S360L(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) ATTTCTTCTTCGTCGGGGGTC 0.592000 112 83 0 0 0.000781405 0 0 LPPR1 54886 broad.mit.edu 37 9 104032222 104032222 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:104032222C>T uc004bbb.3 + 2 523 c.124C>T c.(124-126)Cag>Tag p.Q42* LPPR1_uc011lvi.2_Nonsense_Mutation_p.Q18*|LPPR1_uc004bbc.3_Nonsense_Mutation_p.Q42*|LPPR1_uc010mtc.3_Nonsense_Mutation_p.Q26* NM_207299 NP_997182 Q8TBJ4 LPPR1_HUMAN Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA. 42 integral to membrane catalytic activity TGACACTTTTCAGGTGCATAT 0.493000 75 20 0 0 0.00188189 0 0 KLHL26 55295 broad.mit.edu 37 19 18775173 18775173 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:18775173C>T uc002njz.1 + 1 213 c.186C>T c.(184-186)ctC>ctT p.L62L NM_018316 NP_060786 Q53HC5 KLH26_HUMAN Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA. 62 breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 AGGGCCAGCTCCTCGATGTTG 0.637000 139 54 0 0 0.000781405 0 0 NOL4 8715 broad.mit.edu 37 18 31538286 31538286 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:31538286C>T uc010dmi.3 - 6 1451 c.1153G>A c.(1153-1155)Gaa>Aaa p.E385K NOL4_uc010xbs.2_Missense_Mutation_p.E100K|NOL4_uc002kxr.4_Missense_Mutation_p.E221K|NOL4_uc010xbt.2_Missense_Mutation_p.E311K|NOL4_uc010dmh.3_Missense_Mutation_p.E311K|NOL4_uc010xbu.2_Missense_Mutation_p.E385K|NOL4_uc002kxt.4_Missense_Mutation_p.E385K|NOL4_uc010xbv.1_Missense_Mutation_p.E134K NM_003787 NP_001185478 O94818 NOL4_HUMAN Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA. 385 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 TGGTCATCTTCGTCCTCATCT 0.502000 104 62 0 0 0.000781405 0 0 PHOSPHO2 493911 broad.mit.edu 37 2 170558118 170558118 + Missense_Mutation SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:170558118C>A uc021vsh.1 + 3 955 c.637C>A c.(637-639)Caa>Aaa p.Q213K PHOSPHO2_uc021vsi.1_Missense_Mutation_p.Q213K|PHOSPHO2_uc021vsj.1_Missense_Mutation_p.Q213K|PHOSPHO2_uc021vsg.1_Missense_Mutation_p.Q213K|PHOSPHO2_uc002ufg.3_Missense_Mutation_p.Q213K|KLHL23_uc002ufh.2_Intron|PHOSPHO2_uc021vsk.1_Missense_Mutation_p.Q213K NM_001199288 NP_001186217 Q8TCD6 PHOP2_HUMAN Homo sapiens phosphatase, orphan 2 (PHOSPHO2), transcript variant 5, mRNA. 213 metal ion binding|pyridoxal phosphatase activity breast(1)|large_intestine(1)|lung(6)|skin(2) 10 CAGAATGTCTCAAAATCTTGA 0.353000 127 6 0.00198382 0.00716019 0.00198382 1 0 KIAA1751 85452 broad.mit.edu 37 1 1888209 1888209 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:1888209C>T uc001aim.1 - 16 2022 c.1866G>A c.(1864-1866)aaG>aaA p.K622K KIAA1751_uc009vkz.1_Silent_p.K622K NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN Homo sapiens KIAA1751 (KIAA1751), mRNA. 622 breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 32 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) CAATGAGCTCCTTGTCGAGGG 0.627000 14 7 0 0 0.000274275 0 0 NINJ2 4815 broad.mit.edu 37 12 675180 675180 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:675180C>T uc001qil.3 - 1 427 c.336G>A c.(334-336)ctG>ctA p.L112L NINJ2_uc010sdr.2_Silent_p.L30L|NINJ2_uc010sds.2_Silent_p.L112L NM_016533 NP_057617 Q9NZG7 NINJ2_HUMAN Homo sapiens ninjurin 2 (NINJ2), mRNA. 66 nervous system development|neuron cell-cell adhesion|tissue regeneration integral to plasma membrane large_intestine(3)|lung(1)|ovary(2) 6 all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185) OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508) TGAGGGTGACCAGGGTGGTGT 0.617000 51 14 0 0 0.000308642 0 0 BCL11A 53335 broad.mit.edu 37 2 60688589 60688589 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:60688589C>T uc002sae.1 - 3 1686 c.1458G>A c.(1456-1458)gaG>gaA p.E486E BCL11A_uc002sab.3_Silent_p.E486E|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Silent_p.E155E|BCL11A_uc010ypj.2_Silent_p.E452E|BCL11A_uc002sad.1_Silent_p.E334E|BCL11A_uc002saf.1_Silent_p.E452E NM_022893 NP_075044 Q9H165 BC11A_HUMAN Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA. 486 Glu-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) cctcctcttcctcctcgtccc 0.637000 T IGH@ B-CLL 142 40 0 0 0.00128727 0 0 OBSCN 84033 broad.mit.edu 37 1 228456260 228456260 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:228456260C>T uc009xez.1 + 16 4935 c.4891C>T c.(4891-4893)Cca>Tca p.P1631S OBSCN_uc001hsn.3_Missense_Mutation_p.P1631S|OBSCN_uc001hso.3_Missense_Mutation_p.P77S NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 1631 Ig-like 17. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CAAGGAGCAGCCAGCACACAG 0.627000 25 22 0 0 0.0024448 0 0 CCDC108 255101 broad.mit.edu 37 2 219887933 219887933 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:219887933C>T uc002vjl.1 - 15 2900 c.2816G>A c.(2815-2817)aGa>aAa p.R939K NM_194302 NP_919278 Q6ZU64 CC108_HUMAN Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA. 939 MSP. integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACTCACAAGTCTCTCGTTGGG 0.597000 44 11 0 0 0.000673444 0 0 EP400 57634 broad.mit.edu 37 12 132546845 132546845 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:132546845C>T uc001ujn.3 + 45 8227 c.8075C>T c.(8074-8076)tCt>tTt p.S2692F EP400_uc021rgq.1_Missense_Mutation_p.S2691F|EP400_uc001ujm.3_Missense_Mutation_p.S2611F|EP400_uc001ujp.3_5'Flank NM_015409 NP_056224 Q96L91 EP400_HUMAN Homo sapiens E1A binding protein p400 (EP400), mRNA. 2728 Interaction with ZNF42 (By similarity). histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CCGGCACGGTCTTTGGTGCCC 0.617000 36 18 0 0 0.00074312 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41018473 41018473 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:41018473G>A uc003jmj.4 - 26 3223 c.2733C>T c.(2731-2733)atC>atT p.I911I HEATR7B2_uc003jmi.4_Silent_p.I466I NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 911 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 CTTTCGCAGTGATCTGGAAGG 0.393000 27 5 0 0 0.000602214 0 0 RDH11 51109 broad.mit.edu 37 14 68156954 68156954 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:68156954G>A uc001xjv.4 - 4 729 c.639C>T c.(637-639)acC>acT p.T213T RDH11_uc001xjx.4_Intron|RDH11_uc001xjw.4_Silent_p.T200T NM_016026 NP_057110 Q8TC12 RDH11_HUMAN Homo sapiens retinol dehydrogenase 11 (all-trans/9-cis/11-cis) (RDH11), transcript variant 1, mRNA. 213 retinol metabolic process|steroid metabolic process endoplasmic reticulum membrane|integral to membrane NADP-retinol dehydrogenase activity|binding|retinol dehydrogenase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1) 12 all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924) Vitamin A(DB00162) CCAGTTCCTGGGTGAAGAGGA 0.512000 56 18 0 0 0.00278032 0 0 COL8A2 1296 broad.mit.edu 37 1 36564630 36564630 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:36564630C>T uc001bzv.2 - 1 659 c.652G>A c.(652-654)Gcc>Acc p.A218T COL8A2_uc001bzw.2_Missense_Mutation_p.A153T NM_005202 NP_005193 P25067 CO8A2_HUMAN Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA. 218 Triple-helical region. angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TGCCCTGGGGCCCCAGGCAGC 0.716000 21 7 0 0 0.00198382 0 0 PRSS1 5644 broad.mit.edu 37 7 142459835 142459835 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:142459835G>A uc003wak.2 + 2 428 c.411G>A c.(409-411)acG>acA p.T137T TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.T77T NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 137 Peptidase S1. T -> M (in a colorectal cancer sample; somatic mutation). digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity p.T137T(4)|p.T137M(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CCACTGGCACGAAGTGCCTCA 0.552000 85 26 0 0 0.000720815 0 0 KATNAL2 83473 broad.mit.edu 37 18 44627357 44627357 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:44627357G>A uc002lco.3 + 14 1576 c.1382G>A c.(1381-1383)aGa>aAa p.R461K NM_031303 NP_112593 Q8IYT4 KATL2_HUMAN Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA. 533 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 27 GACTGGCAAAGAGAGTTCGAG 0.468000 OREG0024959 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 21 0 0 0.00188189 0 0 ADAT1 23536 broad.mit.edu 37 16 75646739 75646739 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:75646739G>A uc002feo.2 - 6 614 c.445C>T c.(445-447)Ccg>Tcg p.P149S ADAT1_uc002fep.2_5'UTR NM_012091 NP_036223 Q9BUB4 ADAT1_HUMAN Homo sapiens adenosine deaminase, tRNA-specific 1 (ADAT1), transcript variant 1, mRNA. 149 A to I editase. tRNA processing RNA binding|metal ion binding|tRNA-specific adenosine deaminase activity breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1) 19 TCAAGCATCGGAATGATGGAG 0.488000 35 21 0 0 0.00121646 0 0 GAMT 2593 broad.mit.edu 37 19 1397385 1397385 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:1397385C>T uc002lsj.3 - 5 761 c.684G>A c.(682-684)atG>atA p.M228I AK126693_uc002lsi.1_5'Flank NM_000156 NP_000147 Q14353 GAMT_HUMAN Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 1, mRNA. 228 creatine biosynthetic process|muscle contraction cytosol guanidinoacetate N-methyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1) 6 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Creatine(DB00148) GGGGCGTGATCATCTGTGGGA 0.701000 25 5 0 0 0.000602214 0 0 KIAA1033 23325 broad.mit.edu 37 12 105520946 105520946 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:105520946C>T uc010swr.2 + 12 1165 c.1078C>T c.(1078-1080)Cct>Tct p.P360S KIAA1033_uc001tld.3_Missense_Mutation_p.P360S|KIAA1033_uc010sws.2_Missense_Mutation_p.P172S NM_015275 NP_056090 Q2M389 WAHS7_HUMAN Homo sapiens KIAA1033 (KIAA1033), mRNA. 360 endosome transport WASH complex breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 TATTTGGTTTCCTGATAATTT 0.368000 26 45 0 0 0.000781405 0 0 CYP2B7P1 1556 broad.mit.edu 37 19 41442133 41442133 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:41442133C>T uc010ehg.1 + 1 311 c.303C>T c.(301-303)atC>atT p.I101I CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Silent_p.I101I|CYP2B7P1_uc002opq.3_Non-coding_Transcript Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA. NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 GGGGAAAAATCGTCATCATGG 0.612000 19 19 0 0 0.00229938 0 0 MTMR3 8897 broad.mit.edu 37 22 30374500 30374501 + Missense_Mutation DNP CG AT AT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:30374500_30374501CG>AT uc003agv.4 + 3 401_402 c.73_74CG>AT c.(73-75)cgg>ATg p.R25M MTMR3_uc003agu.4_Missense_Mutation_p.R25M|MTMR3_uc003agw.4_Missense_Mutation_p.R25M NM_021090 NP_066576 Q13615 MTMR3_HUMAN Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA. 25 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) GCAGCTGATCCGGGAGGATGAG 0.386000 284 7 0 0 6.4e-05 0 0 STAC 6769 broad.mit.edu 37 3 36570432 36570432 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:36570432C>T uc003cgh.1 + 9 1104 c.1065C>T c.(1063-1065)ttC>ttT p.F355F STAC_uc011aya.1_Silent_p.F294F NM_003149 NP_003140 Q99469 STAC_HUMAN Homo sapiens SH3 and cysteine rich domain (STAC), mRNA. 355 intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 TTAGAACCTTCATTGGGTGTA 0.393000 34 9 0 0 0.000274275 0 0 SRCAP 10847 broad.mit.edu 37 16 30736199 30736199 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:30736199C>T uc002dze.1 + 24 5839 c.5454C>T c.(5452-5454)tcC>tcT p.S1818S SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.S1613S NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA. 1818 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) ccccagcTTCCCAGGCATCTT 0.632000 31 13 0 0 0.00136819 0 0 TCRA 0 broad.mit.edu 37 14 22315350 22315350 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:22315350G>A uc001wbz.1 + 1 513 c.288G>A c.(286-288)acG>acA p.T96T TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Non-coding_Transcript|TCRA_uc010ait.1_Silent_p.T77T Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: un 132. TCCACCTGACGAAACCCTCAG 0.512000 40 14 0 0 0.000958276 0 0 CDKN1A 1026 broad.mit.edu 37 6 36651888 36651888 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:36651888C>T uc021yzb.1 + 2 112 c.10C>T c.(10-12)Ccg>Tcg p.P4S CDKN1A_uc021yzc.1_Missense_Mutation_p.P4S|CDKN1A_uc011dtq.2_Missense_Mutation_p.P38S|CDKN1A_uc003omm.4_Missense_Mutation_p.P4S|CDKN1A_uc003omn.3_Missense_Mutation_p.P4S NM_078467 NP_510867 P38936 CDN1A_HUMAN Homo sapiens cyclin-dependent kinase inhibitor 1A (p21, Cip1) (CDKN1A), transcript variant 2, mRNA. 4 P -> L (in dbSNP:rs4986866). DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|stress-induced premature senescence PCNA-p21 complex|cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 CATGTCAGAACCGGCTGGGGA 0.632000 12 6 0 0 0.00116845 0 0 ODZ2 57451 broad.mit.edu 37 5 167674098 167674098 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:167674098G>A uc010jjd.3 + 26 6127 c.6127G>A c.(6127-6129)Gtc>Atc p.V2043I ODZ2_uc003lzr.4_Missense_Mutation_p.V1813I|ODZ2_uc003lzt.4_Missense_Mutation_p.V1416I|ODZ2_uc010jje.3_Missense_Mutation_p.V1307I NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. p.G2042W(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) CTTGAAGATGGTCAACCTCCA 0.527000 26 37 0 0 0.000953801 0 0 DNAH5 1767 broad.mit.edu 37 5 13776775 13776775 + Missense_Mutation SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:13776775T>A uc003jfd.2 - 54 9188 c.9146A>T c.(9145-9147)aAt>aTt p.N3049I NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3049 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CAGGTCGCTATTAATTTCATC 0.408000 Kartagener syndrome 34 22 0 0 0.00188189 0 0 MRPL1 65008 broad.mit.edu 37 4 78808408 78808408 + Missense_Mutation SNP G T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:78808408G>T uc003hku.2 + 4 719 c.521G>T c.(520-522)gGa>gTa p.G174V NM_020236 NP_064621 Q9BYD6 RM01_HUMAN Homo sapiens mitochondrial ribosomal protein L1 (MRPL1), nuclear gene encoding mitochondrial protein, mRNA. 174 RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1) 17 GAAGAAAATGGAGCTGCATTT 0.328000 32 12 4.3838e-07 1.59641e-06 0.00185496 1 0 CEACAM7 1087 broad.mit.edu 37 19 42187742 42187742 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:42187742C>T uc002ori.1 - 2 682 c.680G>A c.(679-681)aGt>aAt p.S227N CEACAM7_uc010ehx.2_Missense_Mutation_p.S227N|CEACAM7_uc010ehy.1_Intron NM_006890 NP_008821 Q14002 CEAM7_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA. 227 Ig-like C2-type. anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) GACTGGGTCACTGCGGCTGGC 0.542000 131 40 0 0 0.0025221 0 0 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5655033 5655033 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:5655033G>A uc001mbh.3 + 3 581 c.424_splice c.e3-1 p.E142_splice HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Splice_Site_p.E496_splice|TRIM6-TRIM34_uc001mbi.3_Splice_Site_p.E142_splice|TRIM6-TRIM34_uc001mbj.3_Splice_Site_p.E142_splice NM_001003827 NP_067629 B2RNG4 B2RNG4_HUMAN Homo sapiens tripartite motif containing 34 (TRIM34), transcript variant 4, mRNA. 496 intracellular zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) CCTTCTCATAGGAGAAACTCC 0.438000 14 16 0 0 0.00121646 0 0 TEK 7010 broad.mit.edu 37 9 27172711 27172711 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:27172711C>T uc011lno.2 + 4 1168 c.726C>T c.(724-726)tgC>tgT p.C242C TEK_uc010mjc.1_Silent_p.C95C|TEK_uc011lnn.1_Silent_p.C242C|TEK_uc003zqi.4_Silent_p.C242C|TEK_uc011lnp.2_Silent_p.C138C|TEK_uc003zqj.1_Silent_p.C219C NM_000459 NP_000450 Q02763 TIE2_HUMAN Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA. 242 EGF-like 1. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) AATGCATTTGCCCTCCTGGGT 0.443000 10 12 0 0 0.00136819 0 0 BPTF 2186 broad.mit.edu 37 17 65907642 65907642 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:65907642C>T uc002jgf.3 + 10 3703 c.3642C>T c.(3640-3642)ttC>ttT p.F1214F BPTF_uc002jge.3_Silent_p.F1340F NM_182641 NP_872579 Q12830 BPTF_HUMAN Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA. 1340 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex|cytoplasm sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) ATGATTTTTTCATCGATGACT 0.373000 43 19 0 0 0.000958276 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891712 18891712 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:18891712G>A uc001rdy.3 + 0 668 c.510G>A c.(508-510)tgG>tgA p.W170* PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank NM_033328 NP_201585 Q96KX2 CAZA3_HUMAN Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA. 170 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) ACGGACTTTGGAAATCTAAAT 0.388000 12 24 0 0 0.00047179 0 0 TAPBPL 55080 broad.mit.edu 37 12 6562689 6562689 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:6562689C>T uc001qog.4 + 2 610 c.372C>T c.(370-372)atC>atT p.I124I CD27-AS1_uc001qob.2_5'Flank|CD27-AS1_uc009zel.1_5'Flank|CD27-AS1_uc001qof.3_5'Flank|CD27-AS1_uc009zem.2_5'Flank|TAPBPL_uc001qoi.1_Non-coding_Transcript NM_018009 NP_060479 Q9BX59 TPSNR_HUMAN Homo sapiens TAP binding protein-like (TAPBPL), mRNA. 124 antigen processing and presentation of endogenous peptide antigen via MHC class I endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 6 CCTGTGAGATCTCCCGCTACT 0.577000 14 31 0 0 0.00209593 0 0 RANBP17 64901 broad.mit.edu 37 5 170345744 170345744 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:170345744G>A uc003mba.3 + 9 1124 c.982G>A c.(982-984)Gaa>Aaa p.E328K RANBP17_uc003max.2_Non-coding_Transcript|RANBP17_uc003may.2_Non-coding_Transcript|RANBP17_uc003maz.2_Non-coding_Transcript|RANBP17_uc010jjr.2_Non-coding_Transcript NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN Homo sapiens RAN binding protein 17 (RANBP17), mRNA. 328 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TAATTATCATGAATTTTGTCG 0.323000 T TRD@ ALL 37 12 0 0 0.00244969 0 0 TTN 7273 broad.mit.edu 37 2 179648473 179648473 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179648473G>A uc021vsy.1 - 16 3040 c.2815C>T c.(2815-2817)Cct>Tct p.P939S TTN_uc021vsz.1_Missense_Mutation_p.P893S|TTN_uc021vta.1_Missense_Mutation_p.P893S|TTN_uc021vtb.1_Missense_Mutation_p.P893S|TTN_uc002unb.2_Missense_Mutation_p.P939S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 939 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) GGAGTAACAGGAATTTCAACA 0.348000 72 17 0 0 0.00121646 0 0 TPTE 7179 broad.mit.edu 37 21 10920164 10920164 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:10920164C>T uc002yip.1 - 19 1458 c.1090_splice c.e19-1 p.E364_splice TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.E346_splice|TPTE_uc002yir.1_Splice_Site_p.E326_splice|TPTE_uc010gkv.1_Splice_Site_p.E226_splice NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 364 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TACAGGCTTTCCTACAAAAAA 0.378000 53 8 0 0 0.000157383 0 0 LAMA3 3909 broad.mit.edu 37 18 21513856 21513856 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:21513856G>A uc002kuq.3 + 66 8905 c.8819G>A c.(8818-8820)gGt>gAt p.G2940D LAMA3_uc002kur.3_Missense_Mutation_p.G2884D|LAMA3_uc002kus.4_Missense_Mutation_p.G1331D|LAMA3_uc002kut.4_Missense_Mutation_p.G1275D NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 2940 cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTGCTTAAAGGTTCTACCAGG 0.463000 78 12 0 0 0.00136819 0 0 OR2K2 26248 broad.mit.edu 37 9 114090528 114090528 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:114090528G>A uc011lwp.2 - 0 186 c.186C>T c.(184-186)ttC>ttT p.F62F NM_205859 NP_995581 Q8NGT1 OR2K2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA. 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2) 20 GATTTCCAAGGAATAAGTACA 0.408000 51 12 0 0 0.00185496 0 0 MCF2L2 23101 broad.mit.edu 37 3 182925542 182925542 + Missense_Mutation SNP G A A rs148585637 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:182925542G>A uc003fli.1 - 22 2656 c.2566C>T c.(2566-2568)Cgt>Tgt p.R856C NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA. 856 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) ATTTTATAACGATCCTTGTGA 0.428000 46 22 0 0 0.00229938 0 0 ZNF41 7592 broad.mit.edu 37 X 47308035 47308035 + Silent SNP T G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:47308035T>G uc004dhs.4 - 3 1327 c.1260A>C c.(1258-1260)acA>acC p.T420T ZNF41_uc004dhu.4_Silent_p.T412T|ZNF41_uc004dht.4_Silent_p.T292T|ZNF41_uc004dhv.4_Silent_p.T388T|ZNF41_uc004dhw.4_Silent_p.T380T|ZNF41_uc004dhy.4_Silent_p.T378T|ZNF41_uc004dhx.4_Silent_p.T378T|ZNF41_uc011mlm.2_Silent_p.T292T NM_153380 NP_700359 P51814 ZNF41_HUMAN Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA. 420 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2) 24 all_lung(315;0.000129) GTTTTTCTCCTGTATGAATTC 0.403000 2 44 0 0 0.000680045 0 0 RIMS1 22999 broad.mit.edu 37 6 72957726 72957726 + Missense_Mutation SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:72957726T>C uc003pga.3 + 11 2214 c.2137T>C c.(2137-2139)Tcc>Ccc p.S713P RIMS1_uc011dyb.2_Missense_Mutation_p.S339P|RIMS1_uc003pgc.3_Missense_Mutation_p.S339P|RIMS1_uc010kaq.3_Missense_Mutation_p.S187P|RIMS1_uc011dyc.2_Missense_Mutation_p.S187P|RIMS1_uc010kar.3_Missense_Mutation_p.S106P|RIMS1_uc011dyd.2_Missense_Mutation_p.S172P|RIMS1_uc003pge.3_5'Flank|RIMS1_uc003pgf.3_5'Flank|RIMS1_uc003pgi.3_5'Flank|RIMS1_uc003pgg.3_5'Flank|RIMS1_uc003pgh.3_5'Flank|RIMS1_uc003pgd.3_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.S339P|RIMS1_uc010kas.1_Missense_Mutation_p.S172P NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA. 713 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) AGGTTCAAGTTCCTTTGAATC 0.328000 21 15 0 0 0.000422831 0 0 CDK18 5129 broad.mit.edu 37 1 205499810 205499810 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:205499810G>A uc001hcr.3 + 14 1719 c.1457G>A c.(1456-1458)cGa>cAa p.R486Q CDK18_uc001hcp.3_Missense_Mutation_p.R456Q|CDK18_uc001hcq.3_Missense_Mutation_p.R456Q|CDK18_uc010prj.2_Missense_Mutation_p.R367Q|CDK18_uc001hcs.3_Missense_Mutation_p.R367Q NM_212503 NP_997668 Q07002 CDK18_HUMAN Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA. 454 ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 CCAGGCTACCGAGGCTTGGCC 0.632000 34 7 0 0 0.000442599 0 0 SORBS2 8470 broad.mit.edu 37 4 186545032 186545032 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:186545032G>A uc003iyg.3 - 12 1913 c.1881C>T c.(1879-1881)ttC>ttT p.F627F SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.F613F|SORBS2_uc003iyl.3_Silent_p.F513F|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.F417F|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA. 513 Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) TCAGCTTTTCGAATTCGGAGA 0.572000 59 26 0 0 0.00106085 0 0 CIC 23152 broad.mit.edu 37 19 42794425 42794425 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:42794425C>T uc002otf.1 + 9 1545 c.1505C>T c.(1504-1506)tCc>tTc p.S502F NM_015125 NP_055940 Q96RK0 CIC_HUMAN Homo sapiens capicua homolog (Drosophila) (CIC), mRNA. 502 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) ATCCGTTCCTCCTTTACCCAC 0.617000 """Mis, F, S""" oligodendroglioma 71 24 0 0 0.00278032 0 0 CAD 790 broad.mit.edu 37 2 27465189 27465189 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:27465189G>A uc002rji.3 + 39 6278 c.6116G>A c.(6115-6117)cGg>cAg p.R2039Q CAD_uc010eyw.3_Missense_Mutation_p.R1976Q NM_004341 NP_004332 P27708 PYR1_HUMAN Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA. 2039 ATCase (Aspartate transcarbamylase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) AAGCACTGCCGGAGGCCAGTG 0.617000 40 18 0 0 0.000958276 0 0 DBC1 1620 broad.mit.edu 37 9 121929824 121929824 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:121929824C>T uc004bkc.2 - 7 2280 c.1824G>A c.(1822-1824)tgG>tgA p.W608* NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 608 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 AAAATGTTTTCCACCGATTGC 0.557000 105 40 0 0 0.00148497 0 0 FAM83D 81610 broad.mit.edu 37 20 37580853 37580853 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:37580853C>T uc002xjg.3 + 3 1579 c.1538C>T c.(1537-1539)tCc>tTc p.S513F NM_030919 NP_112181 Q9H4H8 FA83D_HUMAN Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA. 483 cell division|mitosis cytoplasm|spindle pole p.S512C(1) endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) TCTGTGTCTTCCCAAGGCTCT 0.512000 56 16 0 0 0.00074312 0 0 CLTB 1212 broad.mit.edu 37 5 175824609 175824609 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:175824609G>A uc003meh.3 - 4 640 c.464_splice c.e4+1 p.R155_splice CLTB_uc003mei.3_Splice_Site_p.R155_splice|CLTB_uc011dfn.2_Splice_Site NM_007097 NP_009028 P09497 CLCB_HUMAN Homo sapiens clathrin, light chain B (CLTB), transcript variant 2, mRNA. 155 Involved in binding clathrin heavy chain. intracellular protein transport|vesicle-mediated transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle protein binding|structural molecule activity lung(1) 1 all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.098) CCCTCTCACCGGTTGTTGATC 0.602000 53 22 0 0 0.00229938 0 0 MAGEL2 54551 broad.mit.edu 37 15 23889834 23889834 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:23889834G>A uc001ywj.4 - 0 3160 c.3056C>T c.(3055-3057)cCc>cTc p.P1019L NM_019066 NP_061939 Homo sapiens MAGE-like 2 (MAGEL2), mRNA. breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) CTCATCCAAGGGAGACAAGGG 0.572000 17 15 0 0 0.000308642 0 0 ODZ4 26011 broad.mit.edu 37 11 78419499 78419499 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:78419499G>A uc001ozl.4 - 26 4579 c.4116C>T c.(4114-4116)atC>atT p.I1372I NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 1372 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 CATTCTGATCGATGCGTCTGA 0.507000 13 12 0 0 0.00136819 0 0 KIAA1257 57501 broad.mit.edu 37 3 128696984 128696984 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:128696984C>T uc003elj.4 - 4 908 c.712G>A c.(712-714)Ggc>Agc p.G238S KIAA1257_uc003elg.1_Missense_Mutation_p.G238S|KIAA1257_uc003eli.4_Missense_Mutation_p.G126S NM_020741 NP_065792 Q9ULG3 K1257_HUMAN Homo sapiens KIAA1257 (KIAA1257), mRNA. 238 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 TTCTCAATGCCCTGTTCAGAT 0.368000 62 23 0 0 0.000720815 0 0 OR6C3 254786 broad.mit.edu 37 12 55725853 55725853 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:55725853C>T uc010spj.2 + 0 369 c.369C>T c.(367-369)atC>atT p.I123I NM_054104 NP_473445 Q9NZP0 OR6C3_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA. 123 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 ATGTTGCCATCTGCAAGCCCC 0.458000 39 69 0 0 0.000781405 0 0 ZNF560 147741 broad.mit.edu 37 19 9577548 9577548 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9577548G>A uc002mlp.1 - 9 2285 c.2075C>T c.(2074-2076)tCc>tTc p.S692F ZNF560_uc010dwr.1_Missense_Mutation_p.S586F NM_152476 NP_689689 Q96MR9 ZN560_HUMAN Homo sapiens zinc finger protein 560 (ZNF560), mRNA. 692 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 ATTTCGAAAGGAATTTCCACA 0.378000 117 35 0 0 0.00111076 0 0 LALBA 3906 broad.mit.edu 37 12 48963728 48963728 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:48963728C>T uc001rrt.3 - 0 102 c.76G>A c.(76-78)Gag>Aag p.E26K NM_002289 NP_002280 P00709 LALBA_HUMAN Homo sapiens lactalbumin, alpha- (LALBA), mRNA. 26 cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction extracellular space calcium ion binding|lactose synthase activity large_intestine(1)|stomach(2) 3 TGGGACAGCTCACATTTTGTG 0.498000 18 36 0 0 0.000692331 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677298 37677298 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:37677298G>A uc002ofq.3 - 4 1393 c.1141C>T c.(1141-1143)Cct>Tct p.P381S ZNF585B_uc002ofr.1_Missense_Mutation_p.P195S NM_152279 NP_689492 Q52M93 Z585B_HUMAN Homo sapiens zinc finger protein 585B (ZNF585B), mRNA. 381 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CATTCATAAGGTTTCTCTCCA 0.413000 85 23 0 0 0.000878237 0 0 EPHA7 2045 broad.mit.edu 37 6 94120784 94120784 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:94120784C>T uc003poe.3 - 2 508 c.267G>A c.(265-267)tgG>tgA p.W89* EPHA7_uc003pof.3_Nonsense_Mutation_p.W89*|EPHA7_uc011eac.2_Nonsense_Mutation_p.W89*|EPHA7_uc003pog.4_Nonsense_Mutation_p.W89* NM_004440 NP_004431 Q15375 EPHA7_HUMAN Homo sapiens EPH receptor A7 (EPHA7), mRNA. 89 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CTTTGGAAATCCAGTTAGTCC 0.438000 24 17 0 0 0.000422831 0 0 COL27A1 85301 broad.mit.edu 37 9 116931714 116931714 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:116931714C>T uc011lxl.2 + 2 1879 c.1879C>T c.(1879-1881)Ccg>Tcg p.P627S COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Missense_Mutation_p.P477S NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA. 627 Collagen-like 1.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 GATGGGGCCTCCGGGACCCAA 0.632000 66 17 0 0 0.00152264 0 0 FRMD7 90167 broad.mit.edu 37 X 131214289 131214289 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:131214289C>T uc004ewn.3 - 9 1089 c.911G>A c.(910-912)cGa>cAa p.R304Q FRMD7_uc022cdy.1_Missense_Mutation_p.R184Q|FRMD7_uc011muy.2_Missense_Mutation_p.R289Q NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN Homo sapiens FERM domain containing 7 (FRMD7), mRNA. 304 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) CCTTTGGGTTCGTCCACTATC 0.368000 1 22 0 0 0.00278032 0 0 LAMA1 284217 broad.mit.edu 37 18 6966186 6966186 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:6966186G>A uc002knm.3 - 48 7104 c.7010C>T c.(7009-7011)tCa>tTa p.S2337L LAMA1_uc002knl.3_5'Flank|LAMA1_uc010wzj.2_Missense_Mutation_p.S1813L NM_005559 NP_005550 P25391 LAMA1_HUMAN Homo sapiens laminin, alpha 1 (LAMA1), mRNA. 2337 Laminin G-like 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding p.S2337A(1) NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCCATTAGGTGAAAAGGTATT 0.473000 45 10 0 0 0.000442599 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217444 150217444 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:150217444G>A uc003whk.3 + 1 512 c.382G>A c.(382-384)Gtc>Atc p.V128I GIMAP7_uc022apu.1_Missense_Mutation_p.V128I NM_153236 NP_694968 Q8NHV1 GIMA7_HUMAN Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA. 128 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAAGCACATGGTCATCTTGTT 0.512000 58 16 0 0 0.00121646 0 0 SCAND3 114821 broad.mit.edu 37 6 28543082 28543082 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:28543082C>T uc003nlo.3 - 2 2018 c.1400G>A c.(1399-1401)tGc>tAc p.C467Y NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 467 Integrase catalytic. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 CTGGCTTTGGCAGGTCTGAGA 0.428000 32 7 0 0 0.00198382 0 0 ANKRD24 170961 broad.mit.edu 37 19 4222714 4222714 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:4222714G>A uc010dtt.1 + 19 3495 c.3219G>A c.(3217-3219)aaG>aaA p.K1073K NM_133475 NP_597732 Q8TF21 ANR24_HUMAN Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA. 1073 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) AAGCCTTGAAGGAGCAGCCGG 0.597000 16 12 0 0 0.000978159 0 0 abParts 0 broad.mit.edu 37 2 89156784 89156784 + RNA SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:89156784G>A uc002sti.1 - 0 c.3491C>T abParts_uc002stj.1_Non-coding_Transcript Homo sapiens cDNA FLJ46682 fis, clone TRACH3011082, moderately similar to Ig kappa chain V-III region HAH precursor. ACCGCAATAGGGGTAGGTCCC 0.522000 5 6 0 0 0.00116845 0 0 PTPN1 5770 broad.mit.edu 37 20 49195842 49195842 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:49195842C>T uc002xvl.3 + 6 1014 c.840C>T c.(838-840)ttC>ttT p.F280F PTPN1_uc010zys.2_Silent_p.F207F NM_002827 NP_002818 P18031 PTN1_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 1 (PTPN1), mRNA. 280 blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol|endoplasmic reticulum membrane protein tyrosine phosphatase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2) 16 Lung NSC(126;0.163) Clodronate(DB00720)|Tiludronate(DB01133) GTGCCAAATTCATCATGGGGG 0.483000 206 62 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9091626 9091626 + Silent SNP G T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9091626G>T uc002mkp.3 - 0 393 c.189C>A c.(187-189)acC>acA p.T63T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 63 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 GACTGGCCAAGGTCTTATCTG 0.512000 55 12 6.40141e-05 0.000232781 0.000978159 1 0 NSUN2 54888 broad.mit.edu 37 5 6625745 6625745 + Missense_Mutation SNP G C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:6625745G>C uc003jdu.3 - 3 778 c.397C>G c.(397-399)Cga>Gga p.R133G NSUN2_uc011cmk.2_Missense_Mutation_p.R98G|NSUN2_uc003jdv.3_5'UTR NM_017755 NP_060225 Q08J23 NSUN2_HUMAN Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA. 133 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 AAGATTTTTCGACTTAAATTT 0.343000 16 21 0 0 0.00047179 0 0 OR4M2 390538 broad.mit.edu 37 15 22368900 22368900 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:22368900G>A uc010tzu.2 + 0 423 c.325G>A c.(325-327)Gct>Act p.A109T abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA. 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G108V(1) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CTTTGCTGGGGCTTCGGAGAT 0.468000 58 9 0 0 0.000442599 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128840323 128840324 + Missense_Mutation DNP CC TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:128840323_128840324CC>TT uc009zcp.3 - 21 4742_4743 c.4742_4743GG>AA c.(4741-4743)cgg>cAA p.R1581Q ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.R540Q|ARHGAP32_uc001qez.3_Missense_Mutation_p.R1232Q NM_001142685 NP_055530 A7KAX9 RHG32_HUMAN Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA. 1581 Interaction with GAB2. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding p.R1581L(1)|p.R1232L(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 ACTGCACTCTCCGGATGGTAGG 0.550000 12 13 0 0 6.4e-05 0 0 ADCY10 55811 broad.mit.edu 37 1 167779004 167779004 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:167779004C>T uc001ger.3 - 32 5042 c.4744G>A c.(4744-4746)Gaa>Aaa p.E1582K ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.E1429K|ADCY10_uc009wvk.3_Missense_Mutation_p.E1490K NM_018417 NP_001161221 Q96PN6 ADCYA_HUMAN Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA. 1582 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 ACAATTTTTTCCCATGATGGG 0.388000 46 71 0 0 0.000781405 0 0 KIF17 57576 broad.mit.edu 37 1 21036224 21036224 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:21036224C>T uc001bdr.4 - 3 696 c.578G>A c.(577-579)tGg>tAg p.W193* KIF17_uc001bds.4_Nonsense_Mutation_p.W193* NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA. 193 Kinesin-motor. microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) ACGGTTCTTCCAGCCAGTCTC 0.582000 71 18 0 0 0.00121646 0 0 HCFC1 3054 broad.mit.edu 37 X 153223333 153223333 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:153223333G>A uc004fjp.3 - 11 2561 c.2033C>T c.(2032-2034)tCc>tTc p.S678F NM_005334 NP_005325 P51610 HCFC1_HUMAN Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA. 678 Interaction with SIN3A. cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCCCAGATTGGAAATCTAAAA 0.557000 2 50 0 0 0.000781405 0 0 CD209 30835 broad.mit.edu 37 19 7809832 7809832 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:7809832C>T uc002mht.2 - 4 962 c.895G>A c.(895-897)Gag>Aag p.E299K CD209_uc010xju.1_Missense_Mutation_p.E138K|CD209_uc010dvp.2_Missense_Mutation_p.E275K|CD209_uc002mhr.2_Missense_Mutation_p.E275K|CD209_uc002mhs.2_Missense_Mutation_p.E229K|CD209_uc002mhu.2_Missense_Mutation_p.E207K|CD209_uc010dvq.2_Missense_Mutation_p.E299K|CD209_uc002mhq.2_Missense_Mutation_p.E299K|CD209_uc002mhv.2_Missense_Mutation_p.E275K|CD209_uc002mhx.2_Missense_Mutation_p.E255K|CD209_uc002mhw.2_Missense_Mutation_p.E163K|CD209_uc010dvr.2_Intron NM_021155 NP_066978 Q9NNX6 CD209_HUMAN Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA. 299 C-type lectin. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TGTACCTGCTCCTCAGCACTT 0.572000 48 19 0 0 0.00121646 0 0 MYO5B 4645 broad.mit.edu 37 18 47431112 47431112 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:47431112C>T uc002leb.2 - 19 2789 c.2501G>A c.(2500-2502)aGg>aAg p.R834K MYO5B_uc002lea.2_5'Flank NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 834 Arg-rich.|IQ 3. protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TCTGCGGACCCTCTGGTAGGC 0.637000 107 15 0 0 0.000566183 0 0 abParts 0 broad.mit.edu 37 14 106453086 106453086 + RNA SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:106453086G>A uc021ser.1 - 2606 c.44957C>T Parts of antibodies, mostly variable regions. CCAAGAAGAGGATCCTCCAGG 0.542000 24 8 0 0 0.000673444 0 0 IL20 50604 broad.mit.edu 37 1 207039325 207039325 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:207039325G>A uc001her.3 + 0 172 c.128G>A c.(127-129)cGa>cAa p.R43Q IL20_uc009xby.3_Missense_Mutation_p.R43Q NM_018724 NP_061194 Q9NYY1 IL20_HUMAN Homo sapiens interleukin 20 (IL20), mRNA. 43 positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response extracellular space cytokine activity|interleukin-20 receptor binding p.R43*(1) endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1) 9 Breast(84;0.201) OV - Ovarian serous cystadenocarcinoma(81;0.00459) CAGGAAATACGAAATGGATTT 0.473000 69 29 0 0 0.001512 0 0 SYT10 341359 broad.mit.edu 37 12 33535294 33535294 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:33535294C>T uc001rll.1 - 4 1657 c.1360G>A c.(1360-1362)Gat>Aat p.D454N SYT10_uc009zju.1_Missense_Mutation_p.D264N NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN Homo sapiens synaptotagmin X (SYT10), mRNA. 454 C2 2. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) CTATCGTAATCCATGACCGCA 0.458000 18 20 0 0 0.00188189 0 0 MIA3 375056 broad.mit.edu 37 1 222838656 222838656 + Missense_Mutation SNP G T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:222838656G>T uc001hnl.3 + 27 5428 c.5419G>T c.(5419-5421)Ggt>Tgt p.G1807C MIA3_uc001hnm.3_Missense_Mutation_p.G685C NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA. 1807 Pro-rich. exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) TCCAGGCCCTGGTATGCGTCC 0.438000 419 9 0.000673444 0.00243932 0.000673444 1 0 CSMD2 114784 broad.mit.edu 37 1 34090665 34090665 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:34090665G>A uc001bxm.1 - 33 5663 c.5486C>T c.(5485-5487)gCg>gTg p.A1829V CSMD2_uc001bxn.1_Missense_Mutation_p.A1789V|CSMD2_uc001bxo.1_Missense_Mutation_p.A702V NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1789 CUB 11. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACACGTGGGCGCTGAGACATT 0.642000 55 41 0 0 0.000680045 0 0 EPHA10 284656 broad.mit.edu 37 1 38185215 38185215 + Missense_Mutation SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:38185215T>C uc009vvi.3 - 14 2713 c.2627A>G c.(2626-2628)cAc>cGc p.H876R EPHA10_uc001cbt.3_Non-coding_Transcript|EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA. 876 Protein kinase. extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CATTAGTCGGTGCAGAAGGTT 0.627000 39 47 0 0 0.000781405 0 0 KIAA1210 57481 broad.mit.edu 37 X 118223173 118223174 + Missense_Mutation DNP CC TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:118223173_118223174CC>TT uc004era.4 - 10 2019_2020 c.2019_2020GG>AA c.(2017-2022)gtggaa>gtAAaa p.E674K NM_020721 NP_065772 Q9ULL0 K1210_HUMAN Homo sapiens KIAA1210 (KIAA1210), mRNA. 674 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 GAAAGGCTTTCCACCATCAGTG 0.465000 16 10 0 0 6.4e-05 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325121 150325121 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:150325121C>T uc022apv.1 - 2 1255 c.775G>A c.(775-777)Gat>Aat p.D259N GIMAP6_uc003whn.3_Missense_Mutation_p.D189N|GIMAP6_uc003whm.3_3'UTR NM_001244072 NP_001231001 Q6P9H5 GIMA6_HUMAN Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA. 189 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGGGTCACATCCAGCCAGGCA 0.607000 210 38 0 0 0.00111076 0 0 XIRP2 129446 broad.mit.edu 37 2 168103231 168103231 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:168103231G>A uc002udx.3 + 8 5418 c.5329G>A c.(5329-5331)Gag>Aag p.E1777K XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E1602K|XIRP2_uc010fpq.3_Missense_Mutation_p.E1555K|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 1602 actin cytoskeleton organization cell junction actin binding p.G1776E(1) 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 ACAAGAAGGAGAGAAAGAAAT 0.403000 22 11 0 0 0.00185496 0 0 DEK 7913 broad.mit.edu 37 6 18256622 18256622 + Missense_Mutation SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:18256622T>A uc003ncr.1 - 4 615 c.422A>T c.(421-423)cAa>cTa p.Q141L DEK_uc011djf.1_Missense_Mutation_p.Q107L|DEK_uc011djg.1_Non-coding_Transcript NM_003472 NP_003463 P35659 DEK_HUMAN Homo sapiens DEK oncogene (DEK), transcript variant 1, mRNA. 141 chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) CTTTTTATATTGGACACTTCC 0.264000 T NUP214 AML 52 12 0 0 0.00244969 0 0 GABRA6 2559 broad.mit.edu 37 5 161113235 161113235 + Splice_Site SNP G A A rs140035570 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:161113235G>A uc003lyu.2 + 2 377 c.39_splice c.e2-1 p.W13_splice NM_000811 NP_000802 Q16445 GBRA6_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA. 13 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCTACACACAGGCTAGAAAAT 0.448000 TCGA Ovarian(5;0.080) 29 16 0 0 0.000566183 0 0 ADSSL1 122622 broad.mit.edu 37 14 105207213 105207213 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:105207213C>T uc001ypd.3 + 6 696 c.622C>T c.(622-624)Ccc>Tcc p.P208S ADSSL1_uc001ype.3_Missense_Mutation_p.P251S|ADSSL1_uc001ypf.3_Non-coding_Transcript NM_152328 NP_689541 Q8N142 PURA1_HUMAN Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 2, mRNA. 208 AMP biosynthetic process|immune system process|purine base metabolic process cytosol GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1) 11 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) GTCGATGTTCCCCACCCTGGA 0.597000 155 53 0 0 0.000781405 0 0 ZBTB40 9923 broad.mit.edu 37 1 22835087 22835087 + Missense_Mutation SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:22835087T>C uc001bft.2 + 8 2073 c.1562T>C c.(1561-1563)gTt>gCt p.V521A ZBTB40_uc001bfu.2_Missense_Mutation_p.V521A|ZBTB40_uc009vqi.1_Missense_Mutation_p.V409A|ZBTB40_uc001bfv.1_Missense_Mutation_p.V150A NM_001083621 NP_055685 Q9NUA8 ZBT40_HUMAN Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA. 521 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) ATATCAGCAGTTCTAGAAAAG 0.463000 81 43 0 0 0.000781405 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890501 23890501 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:23890501G>A uc001ywj.4 - 0 2493 c.2389C>T c.(2389-2391)Cag>Tag p.Q797* NM_019066 NP_061939 Homo sapiens MAGE-like 2 (MAGEL2), mRNA. breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) GAGGCAGGCTGAAACTGGGAG 0.582000 63 14 0 0 0.000958276 0 0 VWA3A 146177 broad.mit.edu 37 16 22126769 22126769 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:22126769C>T uc010vbq.2 + 8 887 c.791C>T c.(790-792)tCc>tTc p.S264F VWA3A_uc010bxc.2_Missense_Mutation_p.S251F NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA. 264 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) GGACTGGATTCCCTGGTGGCC 0.468000 8 14 0 0 0.000308642 0 0 CORO1C 23603 broad.mit.edu 37 12 109051152 109051152 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:109051152G>A uc009zva.3 - 5 886 c.837C>T c.(835-837)ttC>ttT p.F279F CORO1C_uc001tnj.3_Silent_p.F226F|CORO1C_uc010sxf.2_Silent_p.F189F NM_014325 NP_055140 Q9ULV4 COR1C_HUMAN Homo sapiens coronin, actin binding protein, 1C (CORO1C), transcript variant 1, mRNA. 226 actin cytoskeleton organization|phagocytosis|signal transduction actin cytoskeleton actin filament binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4) 24 CATCGGCCAGGAAGATGGCTC 0.552000 45 18 0 0 0.00074312 0 0 FRAS1 80144 broad.mit.edu 37 4 79308840 79308840 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:79308840G>A uc003hlb.2 + 28 4400 c.3960G>A c.(3958-3960)gtG>gtA p.V1320V FRAS1_uc003hkw.3_Silent_p.V1320V NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 1319 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 TGTTCCAAGTGAAGACCGTGC 0.433000 12 12 0 0 0.00244969 0 0 PPRC1 23082 broad.mit.edu 37 10 103899845 103899845 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:103899845C>T uc001kum.3 + 4 1619 c.1580C>T c.(1579-1581)gCc>gTc p.A527V PPRC1_uc001kun.3_Missense_Mutation_p.A407V|PPRC1_uc010qqj.2_Missense_Mutation_p.A527V|PPRC1_uc009xxa.3_Non-coding_Transcript NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA. 527 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus RNA binding|nucleotide binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) TGGGCTCGGGCCTGGGCAGCT 0.542000 39 24 0 0 0.000878237 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 118415 118415 + RNA SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrGL000205.1:118415C>T uc002kgk.4 + 0 c.1793C>T Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. GTACATCCTTCCCAAGGGCCC 0.547000 69 13 0 0 0.00185496 0 0 PRL 5617 broad.mit.edu 37 6 22294638 22294638 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:22294638G>A uc003ndp.3 - 2 723 c.204_splice c.e2+1 p.F68_splice PRL_uc003ndo.3_Splice_Site_p.F69_splice|PRL_uc003ndq.3_Splice_Site_p.F68_splice|PRL_uc003ndr.1_Splice_Site NM_000948 NP_001157030 P01236 PRL_HUMAN Homo sapiens prolactin (PRL), transcript variant 1, mRNA. 68 cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth cytosol|extracellular region hormone activity|prolactin receptor binding p.F68F(1) NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1) 16 Ovarian(93;0.163) TGGTACTTACGAATTCGCTGA 0.527000 83 25 0 0 0.00127121 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49362808 49362808 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:49362808G>A uc002pkx.3 - 6 1161 c.610C>T c.(610-612)Cgt>Tgt p.R204C PLEKHA4_uc010eml.3_Missense_Mutation_p.R204C NM_020904 NP_065955 Q9H4M7 PKHA4_HUMAN Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA. 204 Pro-rich. cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) GGTCTACCACGACCTCTGGAG 0.677000 33 33 0 0 0.000953801 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23830201 23830201 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:23830201C>T uc003gqs.3 - 4 699 c.579G>A c.(577-579)gcG>gcA p.A193A PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA. 193 RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) AAATACTCTTCGCTTTATTGC 0.413000 22 26 0 0 0.00127121 0 0 SLC6A19 340024 broad.mit.edu 37 5 1216766 1216766 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:1216766C>T uc003jbw.4 + 6 1037 c.981C>T c.(979-981)ttC>ttT p.F327F NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA. 327 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.G326W(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCATTGGGTTCCGCGCCACAC 0.597000 29 16 0 0 0.000308642 0 0 PTK6 5753 broad.mit.edu 37 20 62164928 62164928 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:62164928C>T uc002yfg.3 - 3 686 c.646G>A c.(646-648)Gtg>Atg p.V216M PTK6_uc011aay.2_Missense_Mutation_p.V115M|PTK6_uc011aaz.1_5'Flank NM_005975 NP_005966 Q13882 PTK6_HUMAN Homo sapiens PTK6 protein tyrosine kinase 6 (PTK6), transcript variant 1, mRNA. 216 Protein kinase. cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity p.Q215*(1) endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 15 all_cancers(38;2.51e-11) Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06) TTAATGGCCACCTGGACCCGG 0.657000 59 20 0 0 0.00121646 0 0 PZP 5858 broad.mit.edu 37 12 9333697 9333697 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:9333697G>A uc001qvl.3 - 14 1750 c.1721C>T c.(1720-1722)cCc>cTc p.P574L PZP_uc009zgl.3_Missense_Mutation_p.P443L NM_002864 NP_002855 Homo sapiens pregnancy-zone protein (PZP), mRNA. breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 TGAGGCTGGGGGACTTTGTGC 0.542000 27 31 0 0 0.000814825 0 0 ATP8B4 79895 broad.mit.edu 37 15 50226266 50226266 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:50226266G>A uc001zxu.3 - 14 1543 c.1401C>T c.(1399-1401)ttC>ttT p.F467F ATP8B4_uc010ber.3_Silent_p.F340F|ATP8B4_uc010ufd.2_Silent_p.F340F|ATP8B4_uc010ufe.2_Non-coding_Transcript NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA. 467 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) GTAACCTAAGGAATTCATGAA 0.388000 24 6 0 0 0.000274275 0 0 NPC1L1 29881 broad.mit.edu 37 7 44561837 44561837 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:44561837G>A uc003tlb.3 - 10 2698 c.2642C>T c.(2641-2643)tCg>tTg p.S881L NPC1L1_uc011kbw.2_Intron|NPC1L1_uc003tlc.3_Missense_Mutation_p.S881L|NPC1L1_uc003tla.3_5'Flank NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA. 881 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) AAGCAGGTACGAGTCCTAGGA 0.542000 2 24 0 0 0.00047179 0 0 SLIT2 9353 broad.mit.edu 37 4 20525790 20525790 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:20525790C>T uc003gpr.1 + 13 1632 c.1428C>T c.(1426-1428)ttC>ttT p.F476F SLIT2_uc003gps.1_Silent_p.F476F NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 476 LRRCT 2. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GCAAGAAATTCCGTTGTTCAG 0.473000 68 22 0 0 0.00152264 0 0 NGFR 4804 broad.mit.edu 37 17 47583862 47583862 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:47583862C>T uc002ioz.4 + 2 535 c.410C>T c.(409-411)tCc>tTc p.S137F NM_002507 NP_002498 P08138 TNR16_HUMAN Homo sapiens nerve growth factor receptor (NGFR), mRNA. 137 anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1) 17 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) CTCGTGTTCTCCTGCCAGGAC 0.692000 17 13 0 0 0.000422831 0 0 ATG7 10533 broad.mit.edu 37 3 11356878 11356878 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:11356878C>T uc003bwc.3 + 6 706 c.589C>T c.(589-591)Cct>Tct p.P197S ATG7_uc003bwd.3_Missense_Mutation_p.P197S|ATG7_uc011aum.2_Missense_Mutation_p.P158S NM_006395 NP_006386 O95352 ATG7_HUMAN Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA. 197 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 34 CACAGCTCTTCCTTACTTCTT 0.373000 33 9 0 0 0.000442599 0 0 TBC1D9 23158 broad.mit.edu 37 4 141578692 141578692 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:141578692G>A uc010ioj.3 - 11 2468 c.2196C>T c.(2194-2196)acC>acT p.T732T NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA. 732 intracellular Rab GTPase activator activity|calcium ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) TTCCCAAAACGGTCATGGCCT 0.423000 139 70 0 0 0.000781405 0 0 EDA 1896 broad.mit.edu 37 X 69255270 69255270 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:69255270C>T uc004dxs.3 + 7 1229 c.987C>T c.(985-987)ttC>ttT p.F329F EDA_uc011mpj.2_Silent_p.F324F|EDA_uc004dxr.3_Silent_p.F327F NM_001399 NP_001390 Q92838 EDA_HUMAN Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA. 329 cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1) 14 AGAAGCCCTTCCTGCAGTGCA 0.547000 12 9 0 0 0.000442599 0 0 DSE 29940 broad.mit.edu 37 6 116757959 116757959 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:116757959C>T uc011ebg.2 + 5 2484 c.2385C>T c.(2383-2385)cgC>cgT p.R795R DSE_uc003pws.3_Silent_p.R776R|DSE_uc003pwt.3_Silent_p.R776R|DSE_uc003pwu.3_Silent_p.R443R NM_013352 NP_037484 Q9UL01 DSE_HUMAN Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA. 776 dermatan sulfate biosynthetic process Golgi apparatus|endoplasmic reticulum|integral to membrane chondroitin-glucuronate 5-epimerase activity p.R776R(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) CTGCTGAACGCCTGCTGAGAT 0.463000 23 5 0 0 0.000602214 0 0 KCNA5 3741 broad.mit.edu 37 12 5154222 5154222 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:5154222C>T uc001qni.3 + 0 1138 c.909C>T c.(907-909)gtC>gtT p.V303V NM_002234 NP_002225 P22460 KCNA5_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA. 303 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 GCAGCGGGGTCATGGCCCCGC 0.706000 25 40 0 0 0.00111076 0 0 FHOD1 29109 broad.mit.edu 37 16 67263792 67263792 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:67263792C>T uc002esl.3 - 20 3428 c.3316G>A c.(3316-3318)Gag>Aag p.E1106K LRRC29_uc002esf.3_5'Flank|LRRC29_uc002esg.3_5'Flank|LRRC29_uc010vjg.2_5'Flank|FHOD1_uc010ced.3_Missense_Mutation_p.E913K NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA. 1106 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) TCCATGATCTCATCTGATGTA 0.572000 52 26 0 0 0.000720815 0 0 APOBEC3F 200316 broad.mit.edu 37 22 39477044 39477044 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:39477044C>T uc021wpr.1 + 2 571 c.278C>T c.(277-279)tCc>tTc p.S93F APOBEC3F_uc003awx.3_Missense_Mutation_p.S93F|APOBEC3F_uc003awy.3_Missense_Mutation_p.S26F NM_021822 NP_068594 Q9HC16 ABC3G_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA. 93 DNA cytosine deamination|base conversion or substitution editing|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion RNA binding|cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2) 16 Melanoma(58;0.04) TGGTACATATCCTGGAGCCCC 0.532000 146 16 0 0 0.00074312 0 0 POU6F2 11281 broad.mit.edu 37 7 39504103 39504103 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:39504103C>T uc003thb.2 + 10 2037 c.1894C>T c.(1894-1896)Cct>Tct p.P632S POU6F2_uc022acb.1_Missense_Mutation_p.P596S NM_007252 NP_009183 P78424 PO6F2_HUMAN Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA. 632 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 GAACACACACCCTTCTGGGCA 0.502000 24 6 0 0 0.00198382 0 0 SLC6A11 6538 broad.mit.edu 37 3 10953791 10953791 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:10953791G>A uc003bvz.3 + 6 942 c.908G>A c.(907-909)gGa>gAa p.G303E NM_014229 NP_055044 P48066 S6A11_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA. 303 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) GTAGATGCTGGAACGCAGATC 0.488000 160 69 0 0 0.000781405 0 0 POU2F1 5451 broad.mit.edu 37 1 167385027 167385027 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:167385027A>G uc001gec.3 + 16 2451 c.2212A>G c.(2212-2214)Acc>Gcc p.T738A POU2F1_uc001gee.3_Missense_Mutation_p.T761A|POU2F1_uc010plh.2_Missense_Mutation_p.T698A|POU2F1_uc001ged.3_Missense_Mutation_p.T736A|POU2F1_uc001gef.3_Missense_Mutation_p.T750A|POU2F1_uc001geg.3_Intron NM_001198783 NP_001185712 P14859 PO2F1_HUMAN Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA. 738 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 CACCACCACCACCGCCTCCAA 0.582000 172 5 0 0 0.000602214 0 0 CYP2B6 1555 broad.mit.edu 37 19 41515295 41515295 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:41515295G>A uc002opr.1 + 4 824 c.817G>A c.(817-819)Gaa>Aaa p.E273K CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron NM_000767 NP_000758 P20813 CP2B6_HUMAN Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA. 273 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) GCTCCACATGGAAAAAGTGGG 0.567000 93 20 0 0 0.00188189 0 0 SLFN13 146857 broad.mit.edu 37 17 33772623 33772624 + Missense_Mutation DNP AG CA CA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:33772623_33772624AG>CA uc002hjk.1 - 0 406_407 c.76_77CT>TG c.(76-78)ctg>TGg p.L26W SLFN13_uc010wch.1_Missense_Mutation_p.L26W|SLFN13_uc002hjl.2_Missense_Mutation_p.L26W|SLFN13_uc002hjm.2_5'UTR|SLFN13_uc010ctt.2_Intron NM_144682 NP_653283 Q68D06 SLN13_HUMAN Homo sapiens schlafen family member 13 (SLFN13), mRNA. 26 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TTCTTCTCCCAGAGTCACTTCT 0.470000 27 39 0 0 6.4e-05 0 0 MUC16 94025 broad.mit.edu 37 19 9068288 9068288 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9068288G>A uc002mkp.3 - 2 19362 c.19158C>T c.(19156-19158)gtC>gtT p.V6386V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6388 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 CTTTGTCAAAGACCGTGCTTG 0.463000 46 11 0 0 0.000673444 0 0 MUC3A 4584 broad.mit.edu 37 7 100551903 100551904 + Nonsense_Mutation DNP GG TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:100551903_100551904GG>TT uc003uxl.1 + 0 1154_1155 c.354_355GG>TT c.(352-357)agggga>agTTga p.118_119RG>S* MUC3A_uc003uxk.1_Non-coding_Transcript SubName: Full=Intestinal mucin; Flags: Fragment; breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 CTTTCACTAGGGGAAGTACGTC 0.431000 569 13 0 0 6.4e-05 0 0 STAB1 23166 broad.mit.edu 37 3 52557298 52557298 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:52557298G>A uc003dej.3 + 63 7155 c.7081G>A c.(7081-7083)Gat>Aat p.D2361N STAB1_uc003dek.1_Missense_Mutation_p.D376N|STAB1_uc003del.3_Missense_Mutation_p.D248N NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 2361 FAS1 7. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CTTCCTGGATGATGAGCTCAC 0.552000 88 26 0 0 0.000720815 0 0 SLC24A2 25769 broad.mit.edu 37 9 19786072 19786072 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:19786072C>T uc003zoa.2 - 0 946 c.793G>A c.(793-795)Gaa>Aaa p.E265K SLC24A2_uc003zob.2_Missense_Mutation_p.E265K NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA. 265 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) AGCAAGCTTTCCCACCACATG 0.383000 3 14 0 0 0.00244969 0 0 DENND2C 163259 broad.mit.edu 37 1 115130354 115130354 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:115130354C>T uc001efd.1 - 18 3353 c.2651G>A c.(2650-2652)cGg>cAg p.R884Q DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.R827Q NM_198459 NP_940861 Q68D51 DEN2C_HUMAN Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA. 884 NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-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) TCCACTTTTCCGAAGCTCTCG 0.398000 91 14 0 0 0.000422831 0 0 E2F8 79733 broad.mit.edu 37 11 19246210 19246210 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:19246210G>A uc001mpm.3 - 12 3121 c.2599C>T c.(2599-2601)Cat>Tat p.H867Y E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Missense_Mutation_p.H867Y NM_024680 NP_078956 A0AVK6 E2F8_HUMAN Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA. 867 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GTTGATTAATGGACATCCTCT 0.378000 19 15 0 0 0.000566183 0 0 EVPLL 645027 broad.mit.edu 37 17 18284921 18284921 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:18284921G>A uc002gte.3 + 3 478 c.223G>A c.(223-225)Gag>Aag p.E75K NM_001145127 NP_001138599 A8MZ36 EVPLL_HUMAN Homo sapiens envoplakin-like (EVPLL), mRNA. 75 NS(1)|endometrium(1)|large_intestine(1)|lung(2) 5 TGACAGCATCGAGCAGCTGCA 0.662000 10 7 0 0 0.000157383 0 0 NFRKB 4798 broad.mit.edu 37 11 129751382 129751382 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:129751382G>A uc001qfg.3 - 10 1536 c.1415C>T c.(1414-1416)cCa>cTa p.P472L NFRKB_uc001qfi.3_Missense_Mutation_p.P447L|NFRKB_uc001qfh.3_Missense_Mutation_p.P470L|NFRKB_uc010sbw.1_Missense_Mutation_p.P459L NM_006165 NP_006156 Q6P4R8 NFRKB_HUMAN Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA. 447 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) TTCAACAAATGGAGAGAAACT 0.453000 OREG0021512 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 18 0 0 0.000958276 0 0 TFCP2L1 29842 broad.mit.edu 37 2 121991717 121991717 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:121991717C>T uc002tmx.3 - 11 1241 c.1148G>A c.(1147-1149)cGa>cAa p.R383Q TFCP2L1_uc010flr.3_Missense_Mutation_p.R383Q|TFCP2L1_uc010flq.3_Non-coding_Transcript NM_014553 NP_055368 Q9NZI6 TF2L1_HUMAN Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA. 383 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1) 22 Renal(3;0.01) CAGGGGCACTCGATTCTGCTC 0.562000 57 18 0 0 0.000958276 0 0 MDGA2 161357 broad.mit.edu 37 14 47314980 47314980 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:47314980A>G uc001wwj.4 - 15 3136 c.2978T>C c.(2977-2979)cTa>cCa p.L993P MDGA2_uc001wwh.4_Missense_Mutation_p.L126P|MDGA2_uc001wwi.4_Missense_Mutation_p.L695P NM_001113498 NP_878250 Q7Z553 MDGA2_HUMAN Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA. 924 spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 CTTAGTTGCTAGGTCTTGTTT 0.313000 57 9 0 0 0.000442599 0 0 PIGR 5284 broad.mit.edu 37 1 207105058 207105058 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:207105058C>T uc001hez.3 - 8 2282 c.2098G>A c.(2098-2100)Gcc>Acc p.A700T PIGR_uc009xbz.3_Missense_Mutation_p.A700T NM_002644 NP_002635 P01833 PIGR_HUMAN Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA. 700 extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 ATCGAAGAGGCTCCCATGTTG 0.512000 98 28 0 0 0.000878237 0 0 SERPINA1 5265 broad.mit.edu 37 14 94844884 94844884 + Missense_Mutation SNP C T T rs121912712 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:94844884C>T uc001ycy.4 - 6 1713 c.1159G>A c.(1159-1161)Gag>Aag p.E387K SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Missense_Mutation_p.E387K|SERPINA1_uc010auy.3_Missense_Mutation_p.E387K|SERPINA1_uc001ycz.4_Missense_Mutation_p.E387K|SERPINA1_uc010auz.3_Missense_Mutation_p.E387K|SERPINA1_uc010ava.3_Missense_Mutation_p.E387K|SERPINA1_uc001ydb.4_Missense_Mutation_p.E387K|SERPINA1_uc010avb.3_Missense_Mutation_p.E387K|SERPINA1_uc001ydc.4_Missense_Mutation_p.E387K|SERPINA1_uc010auw.3_Missense_Mutation_p.E387K|SERPINA1_uc010aux.3_Missense_Mutation_p.E387K NM_001002236 NP_001121179 P01009 A1AT_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA. 387 RCL. E -> K (in Christchurch). acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) AACTTGACCTCGGGGGGGATA 0.488000 63 20 0 0 0.00121646 0 0 OR13C8 138802 broad.mit.edu 37 9 107331637 107331637 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:107331637C>T uc011lvo.2 + 0 189 c.189C>T c.(187-189)ctC>ctT p.L63L NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA. 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 ATTTCTTCCTCTGTAATCTTT 0.428000 197 59 0 0 0.000781405 0 0 MEGF10 84466 broad.mit.edu 37 5 126734473 126734473 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:126734473C>T uc003kuh.4 + 7 1127 c.765C>T c.(763-765)tgC>tgT p.C255C MEGF10_uc010jdc.1_Silent_p.C255C|MEGF10_uc010jdd.1_Silent_p.C255C|MEGF10_uc003kui.4_Silent_p.C255C NM_032446 NP_115822 Q96KG7 MEG10_HUMAN Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA. 255 EGF-like 4.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) AATGCTCTTGCCCTTCTGGCT 0.517000 13 35 0 0 0.000692331 0 0 TBC1D9 23158 broad.mit.edu 37 4 141600298 141600298 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:141600298G>A uc010ioj.3 - 4 921 c.649C>T c.(649-651)Ctg>Ttg p.L217L NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA. 217 intracellular Rab GTPase activator activity|calcium ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) ACATCAGGCAGAAGCAGGGTG 0.493000 54 24 0 0 0.00106085 0 0 KIAA0141 9812 broad.mit.edu 37 5 141318137 141318137 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:141318137C>T uc003lls.3 + 11 1483 c.1361C>T c.(1360-1362)cCc>cTc p.P454L KIAA0141_uc003llt.3_Missense_Mutation_p.P454L|KIAA0141_uc021yes.1_5'Flank NM_001142603 NP_055588 Q14154 DELE_HUMAN Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 454 apoptosis|regulation of caspase activity mitochondrion protein binding endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3) 16 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTCCAGCCCCTCCCTCTGC 0.562000 31 46 0 0 0.000781405 0 0 ZDHHC8 29801 broad.mit.edu 37 22 20126823 20126823 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:20126823G>A uc002zrr.2 + 1 318 c.211G>A c.(211-213)Ggt>Agt p.G71S ZDHHC8_uc002zrq.3_Missense_Mutation_p.G71S|ZDHHC8_uc010gsa.3_5'Flank NM_001185024 NP_001171953 Q9ULC8 ZDHC8_HUMAN Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA. 71 cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding p.G71C(2) breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 20 Colorectal(54;0.0993) CATGGACCCTGGTGTTTTCCC 0.557000 149 49 0 0 0.000781405 0 0 ATM 472 broad.mit.edu 37 11 108115720 108115720 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:108115720C>T uc001pkb.1 + 6 1253 c.868C>T c.(868-870)Cat>Tat p.H290Y ATM_uc009yxr.1_Missense_Mutation_p.H290Y NM_000051 NP_000042 Q13315 ATM_HUMAN Homo sapiens ataxia telangiectasia mutated (ATM), mRNA. 290 DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) AATTTATATCCATCATCCGAA 0.294000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 27 8 0 0 0.000274275 0 0 OR10C1 442194 broad.mit.edu 37 6 29408455 29408455 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:29408455C>T uc011dlp.2 + 0 740 c.663C>T c.(661-663)ctC>ctT p.L221L OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA. 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 GGCGTATCCTCGTTACCATCT 0.592000 113 70 0 0 0.000781405 0 0 SORL1 6653 broad.mit.edu 37 11 121391410 121391410 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:121391410G>A uc001pxx.3 + 8 1385 c.1256G>A c.(1255-1257)gGa>gAa p.G419E NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 419 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) CGAGTGGAAGGATTGCAAGGA 0.393000 17 16 0 0 0.000566183 0 0 CDC34 997 broad.mit.edu 37 19 535852 535852 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:535852C>T uc002lov.3 + 1 392 c.193C>T c.(193-195)Ccc>Tcc p.P65S NM_004359 NP_004350 P49427 UB2R1_HUMAN Homo sapiens cell division cycle 34 homolog (S. cerevisiae) (CDC34), mRNA. 65 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination cytoplasm|nucleus ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(1)|lung(1) 2 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CCTCAAGTTCCCCATCGACTA 0.637000 259 77 0 0 0.000781405 0 0 SERPINB13 5275 broad.mit.edu 37 18 61264294 61264294 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:61264294G>A uc010xep.2 + 7 1068 c.900G>A c.(898-900)gaG>gaA p.E300E SERPINB13_uc002ljc.3_Silent_p.E291E|SERPINB13_uc002ljd.3_Silent_p.E155E|SERPINB13_uc010xeq.2_Silent_p.E112E|SERPINB13_uc010xer.2_Silent_p.E112E NM_012397 NP_036529 Q9UIV8 SPB13_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA. 291 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 TTGAGGTGGAGGACGGTTACG 0.522000 158 26 0 0 0.00106085 0 0 DNM1P46 196968 broad.mit.edu 37 15 100332244 100332244 + RNA SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:100332244C>T uc021sxl.1 - 1 c.909G>A DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA. GCAGCGGTCCCAGCCCCAGTG 0.647000 17 5 0 0 0.000602214 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68265132 68265132 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:68265132G>A uc001xka.2 - 10 1986 c.1847C>T c.(1846-1848)cCa>cTa p.P616L ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.P616L|ZFYVE26_uc010tta.2_Missense_Mutation_p.P616L NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA. 616 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GCTCTCTGATGGGGACCTCAA 0.537000 43 17 0 0 0.000566183 0 0 NPSR1 387129 broad.mit.edu 37 7 34851472 34851472 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:34851472G>A uc003teh.1 + 3 603 c.475G>A c.(475-477)Gga>Aga p.G159R NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.G159R|NPSR1_uc010kwt.1_Missense_Mutation_p.G6R|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Missense_Mutation_p.G159R|NPSR1_uc010kww.1_Missense_Mutation_p.G148R|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. 159 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) GTTCCTTCAAGGAGGTGAGCT 0.448000 116 26 0 0 0.001512 0 0 TNXB 7148 broad.mit.edu 37 6 32036660 32036660 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:32036660C>T uc003nzl.2 - 15 6043 c.5841G>A c.(5839-5841)gtG>gtA p.V1947V NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 2029 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CATACAGGGTCACCAGGTATC 0.542000 147 124 0 0 0.000781405 0 0 ZNF486 90649 broad.mit.edu 37 19 20307999 20307999 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:20307999G>A uc002nou.2 + 3 537 c.480G>A c.(478-480)gtG>gtA p.V160V NM_052852 NP_443084 Q96H40 ZN486_HUMAN Homo sapiens zinc finger protein 486 (ZNF486), mRNA. 160 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 GTAAATATGTGAAAGTCTTTC 0.303000 85 18 0 0 0.00152264 0 0 ABCA1 19 broad.mit.edu 37 9 107564394 107564394 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:107564394G>A uc004bcl.3 - 33 5043 c.4639C>T c.(4639-4641)Ccg>Tcg p.P1547S NM_005502 NP_005493 O95477 ABCA1_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA. 1547 Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TCTTGACTCGGAGGAAGTGCT 0.423000 47 45 0 0 0.000781405 0 0 PDGFRA 5156 broad.mit.edu 37 4 55129979 55129979 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:55129979C>T uc003han.4 + 3 844 c.513C>T c.(511-513)tcC>tcT p.S171S PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_Silent_p.S171S|PDGFRA_uc010igq.1_Silent_p.S65S|PDGFRA_uc003ham.2_Non-coding_Transcript NM_006206 NP_006197 P16234 PGFRA_HUMAN Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA. 171 Ig-like C2-type 2. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TACCTGCCTCCTACGACAGCA 0.502000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 41 12 0 0 0.00136819 0 0 AHNAK2 113146 broad.mit.edu 37 14 105420946 105420946 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:105420946G>A uc010axc.1 - 6 962 c.842C>T c.(841-843)tCg>tTg p.S281L AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Missense_Mutation_p.S181L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 281 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGCCTCTGACGAGCTGTGTGA 0.612000 6 24 0 0 0.000586117 0 0 ISX 91464 broad.mit.edu 37 22 35478517 35478517 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:35478517G>A uc003anj.3 + 1 1187 c.236G>A c.(235-237)aGg>aAg p.R79K NM_001008494 NP_001008494 Q2M1V0 ISX_HUMAN Homo sapiens intestine-specific homeobox (ISX), mRNA. 79 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G78E(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4) 26 GCAGAAGGAAGGAAGAGCAAG 0.552000 123 42 0 0 0.000680045 0 0 CSMD2 114784 broad.mit.edu 37 1 34180194 34180194 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:34180194C>T uc001bxm.1 - 20 3576 c.3399G>A c.(3397-3399)agG>agA p.R1133R CSMD2_uc001bxn.1_Silent_p.R1093R NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1093 CUB 7. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TACCAACACACCTTGGCAGAG 0.597000 163 124 0 0 0.000781405 0 0 RIPK3 11035 broad.mit.edu 37 14 24806336 24806336 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:24806336G>A uc001wpb.3 - 7 1441 c.1231C>T c.(1231-1233)Cct>Tct p.P411S ADCY4_uc001wow.3_5'Flank|ADCY4_uc010toh.2_5'Flank|ADCY4_uc001wox.3_5'Flank|ADCY4_uc001woy.3_5'Flank|ADCY4_uc001woz.4_5'Flank|RIPK3_uc001wpa.3_Missense_Mutation_p.P211S|RIPK3_uc010alq.3_Non-coding_Transcript|RIPK3_uc010toi.2_Missense_Mutation_p.P190S NM_006871 NP_006862 Q9Y572 RIPK3_HUMAN Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA. 411 apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) GTTGAGGTAGGGCTGGGCATC 0.537000 44 13 0 0 0.00244969 0 0 NR2E3 10002 broad.mit.edu 37 15 72109979 72109979 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:72109979G>A uc002ati.3 + 8 1377 c.1187G>A c.(1186-1188)gGg>gAg p.G396E NM_014249 NP_055064 Q9Y5X4 NR2E3_HUMAN Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA. 396 phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|endometrium(1)|lung(1) 3 AAGACCATAGGGAATACTCCA 0.468000 10 33 0 0 0.00209593 0 0 PKP1 5317 broad.mit.edu 37 1 201294069 201294069 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:201294069G>A uc001gwd.3 + 12 2149 c.1898_splice c.e12-1 p.G633_splice PKP1_uc001gwe.3_Splice_Site_p.G612_splice|PKP1_uc009wzm.3_Splice_Site_p.G220_splice NM_000299 NP_000290 Q13835 PKP1_HUMAN Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA. 633 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1) 22 CCTCTCCCAGGGAACCAGGTG 0.612000 201 30 0 0 0.000953801 0 0 SIRPD 128646 broad.mit.edu 37 20 1517841 1517841 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:1517841G>A uc002wfi.3 - 2 581 c.537C>T c.(535-537)ttC>ttT p.F179F NM_178460 NP_848555 Q9H106 SIRPD_HUMAN Homo sapiens signal-regulatory protein delta (SIRPD), mRNA. 179 extracellular region breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1) 15 AGGGTTGGACGAAATAGTTTG 0.617000 58 20 0 0 0.000958276 0 0 EXOSC10 5394 broad.mit.edu 37 1 11129681 11129682 + Missense_Mutation DNP GG TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:11129681_11129682GG>TT uc001asa.3 - 21 2472_2473 c.2422_2423CC>AA c.(2422-2424)cca>AAa p.P808K EXOSC10_uc001asb.3_Missense_Mutation_p.P783K NM_001001998 NP_001001998 Q01780 EXOSX_HUMAN Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA. 808 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|RNA binding|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) TGGTGGCTCTGGGTCCTTTGGC 0.480000 828 23 0 0 6.4e-05 0 0 MYO15A 51168 broad.mit.edu 37 17 18042918 18042919 + Missense_Mutation DNP GG AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:18042918_18042919GG>AA uc021trm.1 + 17 5423_5424 c.5204_5205GG>AA c.(5203-5205)cgg>cAA p.R1735Q MYO15A_uc021trl.1_Missense_Mutation_p.R1733Q NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 1735 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium ATP binding|actin binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GTACGGAGCCGGACACGGGTAA 0.639000 14 11 0 0 6.4e-05 0 0 OTP 23440 broad.mit.edu 37 5 76932724 76932724 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:76932724G>A uc003kfg.3 - 1 517 c.369C>T c.(367-369)ttC>ttT p.F123F NM_032109 NP_115485 Q5XKR4 OTP_HUMAN Homo sapiens orthopedia homeobox (OTP), mRNA. 123 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1) 13 all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41) GAGTCTTGGCGAAGCTCCTCT 0.637000 90 39 0 0 0.00195071 0 0 SLC28A2 9153 broad.mit.edu 37 15 45545460 45545460 + Missense_Mutation SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:45545460A>T uc001zva.2 + 1 112 c.47A>T c.(46-48)gAg>gTg p.E16V NM_004212 NP_004203 O43868 S28A2_HUMAN Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA. 16 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) TCCACAGTGGAGACTGGCACA 0.507000 14 8 0 0 0.000442599 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6244543 6244543 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:6244543C>T uc002kmz.4 - 5 424 c.264G>A c.(262-264)atG>atA p.M88I L3MBTL4_uc002kmy.4_Missense_Mutation_p.M88I|L3MBTL4_uc010dkt.3_Missense_Mutation_p.M88I NM_173464 NP_775735 Q8NA19 LMBL4_HUMAN Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA. 88 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) CTTCTAATCTCATTCCAATCT 0.413000 201 43 0 0 0.000781405 0 0 XPO6 23214 broad.mit.edu 37 16 28113227 28113227 + Missense_Mutation SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:28113227A>T uc002dpa.1 - 21 3487 c.2986T>A c.(2986-2988)Ttt>Att p.F996I XPO6_uc002dpb.1_Missense_Mutation_p.F982I|XPO6_uc010vcp.1_Missense_Mutation_p.F996I NM_015171 NP_055986 Q96QU8 XPO6_HUMAN Homo sapiens exportin 6 (XPO6), mRNA. 996 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 TTTTGTTTAAAAAGGTGGATG 0.468000 43 15 0 0 0.000422831 0 0 DLG5 9231 broad.mit.edu 37 10 79603326 79603326 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:79603326G>A uc001jzk.3 - 5 1073 c.1003C>T c.(1003-1005)Ctg>Ttg p.L335L DLG5_uc001jzj.3_Silent_p.L90L|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_5'Flank NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA. 335 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) AGGCGGCTCAGGTCTGCATTG 0.582000 52 38 0 0 0.00222228 0 0 OR13F1 138805 broad.mit.edu 37 9 107266990 107266990 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:107266990G>A uc011lvm.2 + 0 447 c.447G>A c.(445-447)tgG>tgA p.W149* NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA. 149 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 CTGGCTCCTGGATGACAGGCT 0.493000 70 56 0 0 0.000781405 0 0 LIG3 3980 broad.mit.edu 37 17 33321311 33321311 + Missense_Mutation SNP C G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:33321311C>G uc002hik.2 + 8 1601 c.1472C>G c.(1471-1473)tCc>tGc p.S491C LIG3_uc002hij.3_Missense_Mutation_p.S491C|LIG3_uc010cth.1_Missense_Mutation_p.S500C NM_013975 NP_039269 P49916 DNLI3_HUMAN Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA. 491 DNA ligation involved in DNA repair|DNA replication|base-excision repair|cell division|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) GCCTGCAAGTCCGTTGAGTAT 0.527000 Other BER factors 72 20 0 0 0.00188189 0 0 MUC16 94025 broad.mit.edu 37 19 9059164 9059164 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9059164C>T uc002mkp.3 - 2 28486 c.28282G>A c.(28282-28284)Gaa>Aaa p.E9428K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9430 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 CTGTTTTTTTCCACAGACAGC 0.502000 55 10 0 0 0.000978159 0 0 VAT1L 57687 broad.mit.edu 37 16 77859274 77859274 + Silent SNP C T T rs149678482 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:77859274C>T uc002ffg.1 + 2 592 c.495C>T c.(493-495)ttC>ttT p.F165F NM_020927 NP_065978 Q9HCJ6 VAT1L_HUMAN Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA. 165 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 CCATGAACTTCGTCACAGCCT 0.552000 4 15 0 0 0.00244969 0 0 GFRAL 389400 broad.mit.edu 37 6 55264058 55264058 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:55264058C>T uc003pcm.1 + 6 1119 c.1033C>T c.(1033-1035)Cat>Tat p.H345Y NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA. 345 integral to membrane receptor activity p.H345Y(2) NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AACTGGATTTCATTCCCCCTT 0.284000 9 9 0 0 0.000274275 0 0 MATN4 8785 broad.mit.edu 37 20 43929849 43929849 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:43929849C>T uc002xnn.2 - 4 969 c.782G>A c.(781-783)aGc>aAc p.S261N MATN4_uc002xnp.2_Intron|MATN4_uc002xno.2_Missense_Mutation_p.S220N|MATN4_uc010zwr.1_Missense_Mutation_p.S209N|MATN4_uc002xnr.1_Missense_Mutation_p.S261N NM_003833 NP_003824 O95460 MATN4_HUMAN Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA. 302 EGF-like 2. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) GTTCCCAAAGCTGCAGTAGTC 0.602000 OREG0025977 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 81 37 0 0 0.00128727 0 0 FBN2 2201 broad.mit.edu 37 5 127674668 127674668 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:127674668G>A uc003kuu.3 - 25 3868 c.3429C>T c.(3427-3429)ttC>ttT p.F1143F FBN2_uc003kuv.2_Silent_p.F1110F NM_001999 NP_001990 P35556 FBN2_HUMAN Homo sapiens fibrillin 2 (FBN2), mRNA. 1143 EGF-like 16; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CATAGCCTTCGAAGCACTCGC 0.502000 18 31 0 0 0.00178596 0 0 NLRP11 204801 broad.mit.edu 37 19 56321216 56321216 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:56321216G>A uc010ygf.2 - 4 1471 c.760C>T c.(760-762)Ccc>Tcc p.P254S NLRP11_uc002qlz.3_Missense_Mutation_p.P155S|NLRP11_uc002qmb.3_Missense_Mutation_p.P155S|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 254 NACHT. ATP binding p.P254S(2) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) ACTGGAATGGGAACTTTCTGG 0.448000 41 37 0 0 0.000953801 0 0 TCF20 6942 broad.mit.edu 37 22 42605786 42605786 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:42605786G>A uc003bcj.1 - 0 5660 c.5526C>T c.(5524-5526)atC>atT p.I1842I TCF20_uc003bck.1_Silent_p.I1842I NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA. 1842 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GTAGTTCAGGGATTTGTAACT 0.517000 508 44 0 0 0.000781405 0 0 DUOX1 53905 broad.mit.edu 37 15 45431792 45431792 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:45431792G>A uc001zus.1 + 12 1730 c.1384G>A c.(1384-1386)Gac>Aac p.D462N DUOX1_uc001zut.1_Missense_Mutation_p.D462N|DUOX1_uc010bee.1_Intron NM_017434 NP_787954 Q9NRD9 DUOX1_HUMAN Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA. 462 Peroxidase-like; mediates peroxidase activity. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) CCGGAGCAATGACACTGTGAG 0.607000 7 10 0 0 0.000673444 0 0 BICD2 23299 broad.mit.edu 37 9 95481688 95481688 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:95481688C>T uc004asp.1 - 4 1296 c.1239G>A c.(1237-1239)gaG>gaA p.E413E BICD2_uc004aso.1_Silent_p.E413E NM_001003800 NP_001003800 Q8TD16 BICD2_HUMAN Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA. 413 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 CACGGTCCTTCTCGTTGTCCA 0.607000 57 11 0 0 0.000978159 0 0 MEGF8 1954 broad.mit.edu 37 19 42863316 42863316 + Missense_Mutation SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:42863316T>A uc002otl.4 + 29 5844 c.5209T>A c.(5209-5211)Tcg>Acg p.S1737T MEGF8_uc002otm.4_Missense_Mutation_p.S1345T NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA. 1804 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) TGGGGGGCGCTCGGACCCTGA 0.652000 7 6 0 0 0.000157383 0 0 LRRC4B 94030 broad.mit.edu 37 19 51021937 51021937 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:51021937C>T uc002pss.3 - 2 1170 c.1033G>A c.(1033-1035)Ggc>Agc p.G345S NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA. 345 LRRCT. cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) CCCTTGAGGCCGGCGGGCGCA 0.667000 38 7 0 0 0.000157383 0 0 TTLL7 79739 broad.mit.edu 37 1 84386789 84386789 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:84386789G>A uc001djc.3 - 11 1741 c.1345C>T c.(1345-1347)Cga>Tga p.R449* TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Non-coding_Transcript|TTLL7_uc001djf.3_Non-coding_Transcript|TTLL7_uc001djg.3_Non-coding_Transcript NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA. 449 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) CCCATATGTCGATTTTCATGT 0.323000 49 11 0 0 0.00136819 0 0 LAMA5 3911 broad.mit.edu 37 20 60892524 60892525 + Missense_Mutation DNP CC TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:60892524_60892525CC>TT uc002ycq.3 - 54 7454_7455 c.7387_7388GG>AA c.(7387-7389)ggg>AAg p.G2463K LAMA5_uc021wfw.1_Missense_Mutation_p.G2463K NM_005560 NP_005551 O15230 LAMA5_HUMAN Homo sapiens laminin, alpha 5 (LAMA5), mRNA. 2463 Domain II and I. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTCCGAGCCCCATCCAGGCTG 0.678000 30 6 0 0 6.4e-05 0 0 CBLC 23624 broad.mit.edu 37 19 45281499 45281500 + Missense_Mutation DNP GG AT AT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:45281499_45281500GG>AT uc002ozs.3 + 0 374_375 c.311_312GG>AT c.(310-312)agg>aAT p.R104N CBLC_uc010ejt.3_Missense_Mutation_p.R104N NM_012116 NP_036248 Q9ULV8 CBLC_HUMAN Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA. 104 4H.|Cbl-PTB. cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) CGGGGCCGAAGGAGTGCCAACG 0.673000 M AML 119 63 0 0 6.4e-05 0 0 DARC 2532 broad.mit.edu 37 1 159175916 159175916 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:159175916G>A uc001ftp.4 + 0 868 c.693G>A c.(691-693)aaG>aaA p.K231K DARC_uc001fto.3_Silent_p.K229K NM_001122951 NP_001116423 Q16570 DUFFY_HUMAN Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA. 229 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) TTGGAGCCAAGGGGCTGAAGA 0.542000 74 19 0 0 0.00229938 0 0 SP140L 93349 broad.mit.edu 37 2 231222606 231222606 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:231222606C>T uc010fxm.1 + 2 285 c.194C>T c.(193-195)tCa>tTa p.S65L SP140_uc010zma.1_Non-coding_Transcript|SP140L_uc010fxn.2_5'UTR NM_138402 NP_612411 Q9H930 LY10L_HUMAN Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA. 65 HSR. nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 CTGGAGATATCAAATGCAATA 0.393000 156 127 0 0 0.000781405 0 0 CFTR 1080 broad.mit.edu 37 7 117175322 117175322 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:117175322C>T uc003vjd.3 + 5 732 c.600C>T c.(598-600)ttC>ttT p.F200F CFTR_uc011knq.2_5'UTR NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 200 ABC transmembrane type-1 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TGGCACATTTCGTGTGGATCG 0.453000 Cystic Fibrosis 198 56 0 0 0.000781405 0 0 LY9 4063 broad.mit.edu 37 1 160793326 160793326 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:160793326C>T uc001fwu.3 + 7 1620 c.1570C>T c.(1570-1572)Cct>Tct p.P524S LY9_uc001fwv.3_Missense_Mutation_p.P510S|LY9_uc001fww.3_Missense_Mutation_p.P434S|LY9_uc001fwy.1_Missense_Mutation_p.P322S|LY9_uc001fwz.3_Missense_Mutation_p.P162S NM_002348 NP_002339 Q9HBG7 LY9_HUMAN Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA. 524 cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TCCCCTCAGGCCTGCCAGGCA 0.562000 47 17 0 0 0.000958276 0 0 CD93 22918 broad.mit.edu 37 20 23065861 23065861 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:23065861C>T uc002wsv.3 - 0 1117 c.969G>A c.(967-969)ggG>ggA p.G323G NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN Homo sapiens CD93 molecule (CD93), mRNA. 323 EGF-like 2. cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) TGTAGTTTTTCCCATGGGGTC 0.637000 26 12 0 0 0.00136819 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558876 113558876 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:113558876G>A uc010ljy.1 - 0 207 c.176C>T c.(175-177)tCa>tTa p.S59L NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 59 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TCTAGTACCTGAAGATGGGGT 0.403000 20 29 0 0 0.000878237 0 0 ZNF627 199692 broad.mit.edu 37 19 11725377 11725377 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:11725377C>T uc002msk.2 + 1 247 c.39C>T c.(37-39)ttC>ttT p.F13F NM_145295 NP_660338 Q7L945 ZN627_HUMAN Homo sapiens zinc finger protein 627 (ZNF627), mRNA. 13 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 CTGTGAACTTCACCCTGGAGG 0.532000 90 27 0 0 0.00127121 0 0 DYTN 391475 broad.mit.edu 37 2 207530696 207530696 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:207530696G>A uc002vbr.1 - 9 1155 c.1038C>T c.(1036-1038)tcC>tcT p.S346S NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN Homo sapiens dystrotelin (DYTN), mRNA. 346 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TTTCTTCCTGGGAGGTGTATA 0.413000 38 31 0 0 0.00178596 0 0 NOMO1 23420 broad.mit.edu 37 16 14975490 14975490 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:14975490G>A uc002dcv.3 + 24 3041 c.2975G>A c.(2974-2976)gGa>gAa p.G992E NM_014287 NP_055102 Q15155 NOMO1_HUMAN Homo sapiens NODAL modulator 1 (NOMO1), mRNA. 992 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 AGCATTTACGGAGAAGACACC 0.502000 118 61 0 0 0.000781405 0 0 MST1P2 11209 broad.mit.edu 37 1 16973951 16973951 + RNA SNP C G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:16973951C>G uc009vow.2 + 4 c.761C>G CROCCP2_uc001azg.1_5'Flank|CROCCP2_uc001azi.1_5'Flank|MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. CCCATTACCGCCCCCAGGTTC 0.627000 114 4 0 0 0.00198382 0 0 CATSPERB 79820 broad.mit.edu 37 14 92088079 92088079 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:92088079C>T uc001xzs.1 - 18 2273 c.2133G>A c.(2131-2133)tgG>tgA p.W711* CATSPERB_uc010aub.1_Nonsense_Mutation_p.W233* NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA. 711 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) AATATATTTTCCATGTTCGTC 0.368000 85 23 0 0 0.00278032 0 0 COL12A1 1303 broad.mit.edu 37 6 75828862 75828862 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:75828862C>T uc021zbv.1 - 44 7286 c.7251G>A c.(7249-7251)tgG>tgA p.W2417* COL12A1_uc021zbw.1_Nonsense_Mutation_p.W1253*|COL12A1_uc003phs.3_Nonsense_Mutation_p.W2417*|COL12A1_uc003pht.3_Nonsense_Mutation_p.W1253* NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 2417 VWFA 4. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TGCCGCTCTCCCAAGTCAAGA 0.498000 15 8 0 0 0.000157383 0 0 NYAP2 57624 broad.mit.edu 37 2 226378191 226378191 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:226378191C>T uc002voe.2 + 2 501 c.326C>T c.(325-327)cCt>cTt p.P109L NYAP2_uc010fxa.1_Intron NM_020864 NP_065915 Q9P242 K1486_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA. 109 CTTCCCCATCCTTGCTCCAGT 0.562000 31 10 0 0 0.000673444 0 0 OR2M5 127059 broad.mit.edu 37 1 248309366 248309366 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:248309366G>A uc010pze.2 + 0 917 c.917G>A c.(916-918)gGa>gAa p.G306E NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA. 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) AAAGTGTTAGGAAAGGGCAAG 0.438000 36 6 0 0 0.00116845 0 0 COL22A1 169044 broad.mit.edu 37 8 139712353 139712353 + Splice_Site SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:139712353A>C uc003yvd.3 - 32 3039 c.2592_splice c.e32+1 p.P864_splice COL22A1_uc011ljo.2_Splice_Site_p.P164_splice NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 864 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GCTACTACTTACGGGCATCCG 0.557000 HNSCC(7;0.00092) 22 5 0 0 0.000157383 0 0 ACSS3 79611 broad.mit.edu 37 12 81627164 81627164 + Nonsense_Mutation SNP G T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:81627164G>T uc001szl.1 + 12 1724 c.1633G>T c.(1633-1635)Gaa>Taa p.E545* ACSS3_uc001szm.1_Nonsense_Mutation_p.E544*|ACSS3_uc001szn.1_Nonsense_Mutation_p.E227* NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA. 545 mitochondrion ATP binding|acetate-CoA ligase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 TTACATGGATGAAGAAGGCTA 0.338000 15 11 9.05144e-12 3.30564e-11 0.00185496 1 0 ASTN1 460 broad.mit.edu 37 1 176903372 176903372 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:176903372C>T uc001glc.3 - 15 2799 c.2587G>A c.(2587-2589)Ggc>Agc p.G863S ASTN1_uc001glb.1_Missense_Mutation_p.G863S|ASTN1_uc001gld.1_Missense_Mutation_p.G863S NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 871 cell migration|neuron cell-cell adhesion integral to membrane p.G863A(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TCCTCAAAGCCGTAGATAGCT 0.527000 23 36 0 0 0.00058488 0 0 KRT2 3849 broad.mit.edu 37 12 53042018 53042018 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:53042018G>A uc001sat.3 - 4 1094 c.1061C>T c.(1060-1062)gCc>gTc p.A354V NM_000423 NP_000414 P35908 K22E_HUMAN Homo sapiens keratin 2 (KRT2), mRNA. 354 Coil 2.|Rod. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) CTCATACTGGGCCTTGACCTC 0.552000 99 42 0 0 0.00222228 0 0 ZBBX 79740 broad.mit.edu 37 3 167031864 167031864 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:167031864C>T uc011bpc.2 - 15 1652 c.1315G>A c.(1315-1317)Gaa>Aaa p.E439K ZBBX_uc003feq.3_Missense_Mutation_p.E410K|ZBBX_uc003fep.3_Missense_Mutation_p.E439K NM_001199201 NP_001186130 A8MT70 ZBBX_HUMAN Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA. 439 intracellular zinc ion binding p.Y438F(1) NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 ATGCCATTTTCATATGGAAAG 0.289000 47 29 0 0 0.00106085 0 0 NUAK1 9891 broad.mit.edu 37 12 106460902 106460902 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:106460902C>T uc001tlj.1 - 6 3044 c.1664G>A c.(1663-1665)gGt>gAt p.G555D NM_014840 NP_055655 O60285 NUAK1_HUMAN Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA. 555 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 GGCAGGGACACCAGGCTCTGA 0.587000 19 29 0 0 0.0024448 0 0 CD163L1 283316 broad.mit.edu 37 12 7559178 7559179 + Missense_Mutation DNP GT AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:7559178_7559179GT>AA uc010sge.2 - 4 1092_1093 c.1066_1067AC>TT c.(1066-1068)acc>TTc p.T356F CD163L1_uc001qsy.3_Missense_Mutation_p.T346F NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 346 SRCR 3. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 AAAATTGACGGTTCCGGAATGT 0.426000 40 9 0 0 6.4e-05 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629808 9629808 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:9629808G>A uc003jem.1 - 0 656 c.337C>T c.(337-339)Cca>Tca p.P113S NM_019599 NP_062545 Q9NYW7 TA2R1_HUMAN Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA. 113 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 ATGAAGAGTGGGTGACGGACG 0.443000 6 22 0 0 0.00152264 0 0 SMARCA2 6595 broad.mit.edu 37 9 2081880 2081880 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:2081880G>A uc003zhc.3 + 14 2332 c.2233G>A c.(2233-2235)Gga>Aga p.G745R SMARCA2_uc003zhd.3_Missense_Mutation_p.G745R|SMARCA2_uc010mha.3_Missense_Mutation_p.G736R 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. 745 Helicase ATP-binding. 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) CAACTTGAACGGAATCTTAGC 0.423000 3 15 0 0 0.000566183 0 0 DDX60 55601 broad.mit.edu 37 4 169188838 169188838 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:169188838G>A uc003irp.3 - 21 3226 c.2934C>T c.(2932-2934)ctC>ctT p.L978L NM_017631 NP_060101 Q8IY21 DDX60_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA. 978 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) TCTCTCCATAGAGCACTAAAA 0.348000 43 17 0 0 0.000958276 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39144264 39144264 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:39144264C>T uc004abi.3 - 10 1968 c.1729G>A c.(1729-1731)Ggc>Agc p.G577S CNTNAP3_uc004abj.3_Missense_Mutation_p.G577S|CNTNAP3_uc011lqr.2_Intron|CNTNAP3_uc004abk.1_Missense_Mutation_p.G577S|CNTNAP3_uc011lqs.1_Intron NM_033655 NP_387504 Q9BZ76 CNTP3_HUMAN Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA. 577 EGF-like 1. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) CCCGTATAGCCTGTGCCTAGA 0.493000 5 6 0 0 0.000673444 0 0 KANSL1 284058 broad.mit.edu 37 17 44109612 44109612 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:44109612G>A uc002ikc.3 - 13 3362 c.2891C>T c.(2890-2892)cCc>cTc p.P964L KANSL1_uc002ikd.3_Missense_Mutation_p.P964L|KANSL1_uc010dav.3_Missense_Mutation_p.P963L|KANSL1_uc010wkb.2_Missense_Mutation_p.P295L|KANSL1_uc010wkc.2_Missense_Mutation_p.P232L NM_001193466 NP_056258 Q7Z3B3 K1267_HUMAN Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA. 964 MLL1 complex protein binding GGGGGTGGAGGGGTTGGCACT 0.582000 49 65 0 0 0.000781405 0 0 KIF25 3834 broad.mit.edu 37 6 168445589 168445589 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:168445589C>T uc003qwk.1 + 8 1330 c.1068C>T c.(1066-1068)ttC>ttT p.F356F KIF25_uc003qwl.1_Silent_p.F304F NM_030615 NP_085118 Q9UIL4 KIF25_HUMAN Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA. 356 microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GCCTGGGTTTCGGGATCCGAG 0.562000 44 29 0 0 0.00127121 0 0 FOXP2 93986 broad.mit.edu 37 7 114329980 114329980 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:114329980G>A uc003vhb.3 + 16 2521 c.2147G>A c.(2146-2148)tGa>tAa p.*716* FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Silent_p.*741*|FOXP2_uc003vha.3_Silent_p.*624*|FOXP2_uc011kmv.2_Silent_p.*715*|FOXP2_uc011kmu.2_Silent_p.*733*|FOXP2_uc010ljz.2_Silent_p.*531* NM_014491 NP_055306 O15409 FOXP2_HUMAN Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA. 0 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 GATCTGGAATGAGAACTGACT 0.403000 33 9 0 0 0.000673444 0 0 SLC22A16 85413 broad.mit.edu 37 6 110759941 110759941 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:110759941G>A uc003puf.3 - 4 1360 c.1293C>T c.(1291-1293)gtC>gtT p.V431V SLC22A16_uc003pue.3_Silent_p.V412V NM_033125 NP_149116 Q86VW1 S22AG_HUMAN Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA. 431 V -> I (in dbSNP:rs35948062). acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) TCACCATAACGACACCACAGG 0.458000 27 27 0 0 0.001512 0 0 TTN 7273 broad.mit.edu 37 2 179417696 179417696 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179417696C>T uc021vsy.1 - 283 82452 c.82227G>A c.(82225-82227)aaG>aaA p.K27409K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.K21104K|TTN_uc021vta.1_Silent_p.K21037K|TTN_uc021vtb.1_Silent_p.K20912K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 28336 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) ACCATGTTCTCTTGGTGGCAT 0.418000 21 18 0 0 0.000958276 0 0 KCNT2 343450 broad.mit.edu 37 1 196205198 196205198 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:196205198C>T uc001gtd.1 - 26 3274 c.3214G>A c.(3214-3216)Gaa>Aaa p.E1072K KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.E1005K|KCNT2_uc001gtf.1_Missense_Mutation_p.E1048K|KCNT2_uc001gtg.1_Non-coding_Transcript NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA. 1072 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TCATTCATTTCATCTAGAAGA 0.333000 96 50 0 0 0.000781405 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555256 44555256 + Missense_Mutation SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:44555256T>A uc010xdb.2 - 0 1194 c.958A>T c.(958-960)Atg>Ttg p.M320L KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA. 320 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 TACACCGGCATCTTAGCGTTC 0.657000 748 47 0 0 0.000953801 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685875 125685875 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:125685875G>A uc022cds.1 - 0 717 c.717C>T c.(715-717)ctC>ctT p.L239L DCAF12L1_uc004eul.3_Silent_p.L239L NM_178470 NP_848565 Q5VU92 DC121_HUMAN Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA. 239 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 CATATACGGGGAGACCCACCT 0.667000 16 17 0 0 0.00074312 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77317962 77317962 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:77317962G>A uc002ffc.4 - 22 3976 c.3557C>T c.(3556-3558)cCa>cTa p.P1186L NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 1186 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.P1186S(1) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TACGCAGGATGGATCCTCTAA 0.393000 54 14 0 0 0.000308642 0 0 COL3A1 1281 broad.mit.edu 37 2 189860485 189860485 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:189860485G>A uc002uqj.1 + 21 1694 c.1577G>A c.(1576-1578)aGa>aAa p.R526K NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 526 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GAACCTGGCAGAGATGGCGTC 0.468000 3 4 0 0 0.00024832 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31102932 31102932 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:31102932G>A uc003tca.2 + 2 340 c.51_splice c.e2+1 p.M17_splice ADCYAP1R1_uc003tcg.3_Splice_Site_p.M17_splice|ADCYAP1R1_uc003tce.2_Splice_Site_p.M17_splice|ADCYAP1R1_uc003tcb.2_Splice_Site_p.M17_splice|ADCYAP1R1_uc003tcc.2_Splice_Site_p.M17_splice NM_001118 NP_001109 P41586 PACR_HUMAN Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA. 17 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 GCTGCCTATGGTAAGGGCCCA 0.592000 79 10 0 0 0.000673444 0 0 SNX11 29916 broad.mit.edu 37 17 46198718 46198718 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:46198718C>T uc002inf.1 + 7 1015 c.661C>T c.(661-663)Ccc>Tcc p.P221S SNX11_uc010wlg.1_Missense_Mutation_p.P213S|SNX11_uc002ing.1_Missense_Mutation_p.P221S|SNX11_uc010wlh.1_Missense_Mutation_p.P213S|SNX11_uc010wli.1_Missense_Mutation_p.P160S|SNX11_uc010wlj.1_Missense_Mutation_p.P77S|SNX11_uc002inh.1_Missense_Mutation_p.P221S NM_152244 NP_689450 Q9Y5W9 SNX11_HUMAN Homo sapiens sorting nexin 11 (SNX11), transcript variant 1, mRNA. 221 cell communication|protein transport membrane phosphatidylinositol binding breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 14 CTTGGAAAGTCCCACTCTCCC 0.542000 103 40 0 0 0.00148497 0 0 CGNL1 84952 broad.mit.edu 37 15 57731589 57731589 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:57731589G>A uc010bfw.3 + 2 1585 c.1392G>A c.(1390-1392)ccG>ccA p.P464P CGNL1_uc002aeg.3_Silent_p.P464P NM_001252335 NP_001239264 Q0VF96 CGNL1_HUMAN Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA. 464 Head. myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) CTCCCCAGCCGAACATAGATG 0.592000 30 9 0 0 0.000442599 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871325 51871325 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:51871325C>T uc002xwo.3 + 1 2215 c.1328C>T c.(1327-1329)cCc>cTc p.P443L TSHZ2_uc021wex.1_Missense_Mutation_p.P440L NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 443 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TCTCTGGCTCCCAAGCCATCC 0.478000 140 41 0 0 0.00285205 0 0 RLBP1 6017 broad.mit.edu 37 15 89761846 89761846 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:89761846C>T uc002bnl.3 - 3 471 c.91G>A c.(91-93)Gga>Aga p.G31R NM_000326 NP_000317 P12271 RLBP1_HUMAN Homo sapiens retinaldehyde binding protein 1 (RLBP1), mRNA. 31 response to stimulus|visual perception|vitamin A metabolic process cytoplasm|soluble fraction retinol binding|transporter activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1) 18 Lung NSC(78;0.0472)|all_lung(78;0.089) Vitamin A(DB00162) AAGACAGGTCCATGGTCCTTG 0.602000 37 5 0 0 0.000602214 0 0 TTN 7273 broad.mit.edu 37 2 179470335 179470335 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179470335C>T uc021vsy.1 - 227 46208 c.45983G>A c.(45982-45984)gGa>gAa p.G15328E MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G9023E|TTN_uc021vta.1_Missense_Mutation_p.G8956E|TTN_uc021vtb.1_Missense_Mutation_p.G8831E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 16255 Ig-like 97. 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) AATGATATATCCTTGGATGGG 0.448000 41 11 0 0 0.000673444 0 0 CCDC105 126402 broad.mit.edu 37 19 15132229 15132229 + Missense_Mutation SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:15132229A>T uc002nae.2 + 3 1038 c.939A>T c.(937-939)gaA>gaT p.E313D NM_173482 NP_775753 Q8IYK2 CC105_HUMAN Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA. 313 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 CCTTGGTAGAAATGGCAAAGA 0.602000 20 31 0 0 0.00058488 0 0 DENND1C 79958 broad.mit.edu 37 19 6468914 6468914 + Silent SNP G T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:6468914G>T uc002mfe.3 - 19 1550 c.1458C>A c.(1456-1458)ctC>ctA p.L486L DENND1C_uc002mfb.3_Silent_p.L36L|DENND1C_uc002mfc.3_Silent_p.L36L|DENND1C_uc002mfd.3_Silent_p.L36L|DENND1C_uc010xje.2_Silent_p.L442L NM_024898 NP_079174 Q8IV53 DEN1C_HUMAN Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA. 486 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 AGCGGCTGGGGAGGGCTGGGG 0.622000 38 18 5.35356e-11 1.95375e-10 0.00278032 1 0 C15orf29 79768 broad.mit.edu 37 15 34445050 34445050 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:34445050C>T uc001zhp.3 - 3 539 c.379G>A c.(379-381)Gat>Aat p.D127N C15orf29_uc010ubz.2_Missense_Mutation_p.D31N|C15orf29_uc010uca.1_Missense_Mutation_p.D127N NM_024713 NP_078989 Q9H079 CO029_HUMAN Homo sapiens chromosome 15 open reading frame 29 (C15orf29), mRNA. 127 nucleolus kidney(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 5 all_lung(180;1.86e-06) all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229) GAACCAGAATCACTGGAGTTA 0.388000 20 27 0 0 0.00106085 0 0 AGBL2 79841 broad.mit.edu 37 11 47711717 47711717 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:47711717G>A uc001ngg.3 - 9 1844 c.1542C>T c.(1540-1542)tcC>tcT p.S514S AGBL2_uc001ngf.3_Non-coding_Transcript|AGBL2_uc010rhq.1_Silent_p.S476S|AGBL2_uc001ngh.1_Silent_p.S458S NM_024783 NP_079059 Q5U5Z8 CBPC2_HUMAN Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA. 514 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 TTCCGGCCAAGGAACACCGAT 0.443000 26 15 0 0 0.000422831 0 0 SIRPB1 10326 broad.mit.edu 37 20 1551667 1551667 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:1551667C>T uc010gai.3 - 3 967 c.868G>A c.(868-870)Gga>Aga p.G290R SIRPB1_uc002wfk.4_Intron NM_006065 NP_006056 O00241 SIRB1_HUMAN Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA. 290 Ig-like C1-type 2. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GACACATTTCCATTCTCCAAC 0.552000 53 15 0 0 0.00074312 0 0 FANCB 2187 broad.mit.edu 37 X 14868780 14868780 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:14868780G>A uc004cwg.1 - 6 1611 c.1343C>T c.(1342-1344)cCt>cTt p.P448L FANCB_uc004cwh.1_Missense_Mutation_p.P448L NM_001018113 NP_689846 Q8NB91 FANCB_HUMAN Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA. 448 DNA repair nucleoplasm NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) ACCACAAAGAGGAACAAGACA 0.294000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 17 15 0 0 0.000308642 0 0 ZNF536 9745 broad.mit.edu 37 19 31025854 31025854 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:31025854G>A uc002nsu.1 + 2 2409 c.2271G>A c.(2269-2271)ggG>ggA p.G757G ZNF536_uc010edd.1_Silent_p.G757G NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 757 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CGTACTGTGGGAAAACTTTCC 0.597000 98 35 0 0 0.000814825 0 0 ZNF28 7576 broad.mit.edu 37 19 53311333 53311333 + Silent SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:53311333T>C uc002qad.3 - 2 226 c.69A>G c.(67-69)aaA>aaG p.K23K ZNF28_uc002qac.3_5'UTR|ZNF28_uc010eqe.3_Intron NM_006969 NP_008900 P17035 ZNF28_HUMAN Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA. 23 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) GGTCCAGGCATTTCCACTCCT 0.483000 148 5 0 0 0.000673444 0 0 PLCL2 23228 broad.mit.edu 37 3 17053427 17053427 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:17053427C>T uc011awc.2 + 2 2661 c.2565C>T c.(2563-2565)tcC>tcT p.S855S PLCL2_uc011awd.2_Silent_p.S737S NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA. 863 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 CCCTGCAGTCCTTAACTGGAG 0.483000 96 29 0 0 0.000814825 0 0 ZNF536 9745 broad.mit.edu 37 19 31039511 31039511 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:31039511G>A uc002nsu.1 + 3 3123 c.2985G>A c.(2983-2985)caG>caA p.Q995Q ZNF536_uc010edd.1_Silent_p.Q995Q NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 995 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TAACTGTGCAGGACAGCATTG 0.582000 79 28 0 0 0.000720815 0 0 OR10A6 390093 broad.mit.edu 37 11 7950003 7950003 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:7950003C>T uc010rbh.2 - 0 207 c.207G>A c.(205-207)gtG>gtA p.V69V NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA. 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AACTCAGGTCCACCACAGATA 0.443000 25 19 0 0 0.00152264 0 0 BZRAP1 9256 broad.mit.edu 37 17 56382928 56382928 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:56382928C>T uc002ivx.4 - 27 6205 c.5334G>A c.(5332-5334)caG>caA p.Q1778Q BZRAP1_uc002ivv.3_5'Flank|BZRAP1_uc002ivw.3_Silent_p.Q10Q|BZRAP1_uc010dcs.3_Silent_p.Q1718Q|BZRAP1_uc010wnt.2_Silent_p.Q1769Q NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1778 SH3 3. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGGAACTCTCCTGGGGGTTGT 0.602000 28 17 0 0 0.00121646 0 0 COL19A1 1310 broad.mit.edu 37 6 70850851 70850851 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:70850851G>A uc003pfc.1 + 19 1569 c.1452G>A c.(1450-1452)gaG>gaA p.E484E COL19A1_uc010kam.2_Silent_p.E380E NM_001858 NP_001849 Q14993 COJA1_HUMAN Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA. 484 Triple-helical region 3 (COL3). 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 CTTAGGGAGAGCCTTTTACAA 0.373000 19 24 0 0 0.00047179 0 0 C5orf25 375484 broad.mit.edu 37 5 175717561 175717561 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:175717561C>T uc003mds.4 + 3 1384 c.977C>T c.(976-978)tCa>tTa p.S326L C5orf25_uc003mdr.3_Intron|C5orf25_uc003mdt.4_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.S345L|C5orf25_uc003mdu.1_Missense_Mutation_p.S237L Q8NDZ2 CE025_HUMAN Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA. 326 Pro-rich. all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.119) GTGTTACATTCACCTGGAGAC 0.532000 61 27 0 0 0.00106085 0 0 C14orf133 63894 broad.mit.edu 37 14 77919703 77919703 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:77919703G>A uc001xtt.2 - 3 552 c.135C>T c.(133-135)ttC>ttT p.F45F C14orf133_uc001xtu.2_Silent_p.F45F|C14orf133_uc001xtv.2_Silent_p.F45F|C14orf133_uc021rwu.1_Silent_p.F45F|C14orf133_uc010tvj.2_Silent_p.F45F NM_022067 NP_071350 Q9H9C1 VIPAR_HUMAN Homo sapiens chromosome 14 open reading frame 133 (C14orf133), transcript variant 2, mRNA. 45 endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent early endosome|late endosome|recycling endosome protein binding Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) CATCATCCACGAAGTCTCGGA 0.537000 285 93 0 0 0.000781405 0 0 CNTN3 5067 broad.mit.edu 37 3 74344349 74344349 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:74344349G>A uc003dpm.1 - 17 2520 c.2440C>T c.(2440-2442)Cta>Tta p.L814L NM_020872 NP_065923 Q9P232 CNTN3_HUMAN Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA. 814 Fibronectin type-III 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) GAGGAAGATAGGCTATTTGCA 0.378000 77 19 0 0 0.00188189 0 0 IMPG2 50939 broad.mit.edu 37 3 101023106 101023106 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:101023106G>A uc003duq.2 - 2 588 c.385C>T c.(385-387)Cct>Tct p.P129S IMPG2_uc011bhe.2_5'UTR NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA. 129 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TCACGCCCAGGAAGTCGATCC 0.413000 23 12 0 0 0.00185496 0 0 OR8J1 219477 broad.mit.edu 37 11 56128056 56128056 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:56128056G>A uc010rjh.2 + 0 366 c.334G>A c.(334-336)Gta>Ata p.V112I NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA. 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) TGTATCGGAGGTAATCATGCT 0.463000 23 23 0 0 0.000878237 0 0 MUC17 140453 broad.mit.edu 37 7 100678869 100678869 + Missense_Mutation SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:100678869C>A uc003uxp.1 + 2 4225 c.4172C>A c.(4171-4173)cCt>cAt p.P1391H MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 1391 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.N1390T(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AACTCAAATCCTAGTGAAGGA 0.493000 99 163 6.97922e-69 2.56544e-68 0.000781405 1 0 ACER1 125981 broad.mit.edu 37 19 6312178 6312178 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:6312178G>A uc002mel.2 - 2 410 c.332C>T c.(331-333)tCc>tTc p.S111F NM_133492 NP_597999 Q8TDN7 ACER1_HUMAN Homo sapiens alkaline ceramidase 1 (ACER1), mRNA. 111 endoplasmic reticulum membrane|integral to membrane ceramidase activity NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1) 15 CCCAAGGAAGGAGGGGAAATA 0.607000 26 24 0 0 0.000586117 0 0 TRIM25 7706 broad.mit.edu 37 17 54969163 54969163 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:54969163G>A uc002iut.3 - 8 1851 c.1791C>T c.(1789-1791)gtC>gtT p.V597V TRIM25_uc010dcj.3_Silent_p.V389V|TRIM25_uc021uaj.1_5'Flank NM_005082 NP_005073 Q14258 TRI25_HUMAN Homo sapiens tripartite motif containing 25 (TRIM25), mRNA. 597 B30.2/SPRY. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(9;6.15e-08) ACATCAGGTGGACCTTGTCGG 0.552000 26 11 0 0 0.000978159 0 0 GLP2R 9340 broad.mit.edu 37 17 9783831 9783831 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:9783831C>T uc002gmd.1 + 10 1282 c.1282C>T c.(1282-1284)Cat>Tat p.H428Y NM_004246 NP_004237 O95838 GLP2R_HUMAN Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA. 428 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) GAGCTCCTTTCATGTAAGTAG 0.403000 33 20 0 0 0.00152264 0 0 RRP15 51018 broad.mit.edu 37 1 218480849 218480849 + Missense_Mutation SNP T G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:218480849T>G uc001hlj.3 + 3 610 c.580T>G c.(580-582)Tct>Gct p.S194A NM_016052 NP_057136 Q9Y3B9 RRP15_HUMAN Homo sapiens ribosomal RNA processing 15 homolog (S. cerevisiae) (RRP15), mRNA. 194 mitochondrion|nucleolus protein binding ACBD6/RRP15(2) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 14 all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248) AGCTGGAAGTTCTATGAGAAA 0.368000 43 6 0 0 0.00116845 0 0 PPP6R3 55291 broad.mit.edu 37 11 68341637 68341637 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:68341637C>T uc001onv.3 + 12 1671 c.1404C>T c.(1402-1404)atC>atT p.I468I PPP6R3_uc001onw.3_Silent_p.I468I|PPP6R3_uc001ony.4_Silent_p.I468I|PPP6R3_uc001onx.3_Silent_p.I468I|PPP6R3_uc009ysh.3_Silent_p.I417I|PPP6R3_uc001onu.3_Silent_p.I417I|PPP6R3_uc010rqc.2_Silent_p.I236I|PPP6R3_uc010rqd.2_Silent_p.I180I|PPP6R3_uc001onz.3_5'Flank NM_001164160 NP_001157632 Q5H9R7 PP6R3_HUMAN Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA. 468 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 CTAACTGTATCGTGCACAGCA 0.448000 22 18 0 0 0.000958276 0 0 ASAP3 55616 broad.mit.edu 37 1 23768717 23768717 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:23768717G>A uc001bha.2 - 6 757 c.633C>T c.(631-633)ttC>ttT p.F211F ASAP3_uc010odz.1_Silent_p.F80F|ASAP3_uc010oea.1_Silent_p.F202F NM_017707 NP_060177 Q8TDY4 ASAP3_HUMAN Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA. 211 regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 24 GGCTCTGAAGGAAGTCAGGAC 0.557000 27 4 0 0 0.000602214 0 0 TSSC4 10078 broad.mit.edu 37 11 2424683 2424683 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:2424683C>T uc021qcg.1 + 0 820 c.820C>T c.(820-822)Cac>Tac p.H274Y TSSC4_uc001lwi.3_Missense_Mutation_p.H210Y|TSSC4_uc001lwk.3_Missense_Mutation_p.H274Y|TSSC4_uc001lwl.3_Missense_Mutation_p.H274Y NM_005706 NP_005697 Q9Y5U2 TSSC4_HUMAN Homo sapiens tumor suppressing subtransferable candidate 4 (TSSC4), mRNA. 274 H -> P (in dbSNP:rs2234283). endometrium(3)|large_intestine(1)|lung(4) 8 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19) GTGGGGCAGCCACCATGGAGG 0.687000 66 61 0 0 0.000781405 0 0 ZNF45 7596 broad.mit.edu 37 19 44426436 44426436 + Splice_Site SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:44426436A>C uc002oxu.2 - 1 1 c.-98_splice c.e1-1 ZNF45_uc002oxw.2_Intron NM_003425 NP_003416 Q02386 ZNF45_HUMAN Homo sapiens zinc finger protein 45 (ZNF45), mRNA. multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 17 CAAAAAAAAAACCATAGCTGT 0.403000 12 4 0 0 0.00024832 0 0 C9orf174 100499483 broad.mit.edu 37 9 100090419 100090419 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:100090419C>T uc011lut.2 + 29 3334 c.2328C>T c.(2326-2328)atC>atT p.I776I C9orf174_uc004axe.2_Silent_p.I776I|C9orf174_uc011lus.2_Silent_p.I594I|C9orf174_uc004axg.2_Silent_p.I637I|C9orf174_uc004axh.2_5'Flank|C9orf174_uc010msm.1_Intron|C9orf174_uc004axf.3_Silent_p.I637I|C9orf174_uc011luv.1_Silent_p.I634I NM_020893 NP_065944 Q9P1Z9 CI174_HUMAN Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA. 776 integral to membrane breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1) 16 TGCGTGAAATCTTTGAACAGG 0.478000 61 26 0 0 0.000878237 0 0 FOXE3 2301 broad.mit.edu 37 1 47882374 47882374 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:47882374C>T uc001crk.3 + 0 631 c.387C>T c.(385-387)ttC>ttT p.F129F NM_012186 NP_036318 Q13461 FOXE3_HUMAN Homo sapiens forkhead box E3 (FOXE3), mRNA. 129 cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation 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 lung(3)|prostate(1)|upper_aerodigestive_tract(1) 5 READ - Rectum adenocarcinoma(2;0.0908) ACGACTGCTTCGTCAAGGTGC 0.642000 51 13 0 0 0.000308642 0 0 DFNB59 494513 broad.mit.edu 37 2 179325105 179325105 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179325105G>A uc002umi.4 + 5 1054 c.698G>A c.(697-699)gGa>gAa p.G233E MIR548N_uc021vsx.1_Intron|DFNB59_uc002umj.4_Missense_Mutation_p.G233E NM_001042702 NP_001036167 Q0ZLH3 PJVK_HUMAN Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA. 233 sensory perception of sound breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) TCAAAAGGAGGATTTGAAAGG 0.328000 31 35 0 0 0.00148497 0 0 TEP1 7011 broad.mit.edu 37 14 20871883 20871883 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:20871883G>A uc001vxe.3 - 6 1234 c.1194_splice c.e6+1 p.P398_splice TEP1_uc010tlf.1_Splice_Site|TEP1_uc010tlg.1_Intron NM_007110 NP_009041 Q99973 TEP1_HUMAN Homo sapiens telomerase-associated protein 1 (TEP1), mRNA. 398 TROVE. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GTGACTGACTGGAGAGCGGGG 0.617000 52 23 0 0 0.000586117 0 0 NOC2L 26155 broad.mit.edu 37 1 888564 888564 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:888564G>A uc009vjq.3 - 8 1052 c.993C>T c.(991-993)ccC>ccT p.P331P NOC2L_uc001aby.4_Silent_p.P128P|NOC2L_uc001abz.4_Silent_p.P331P NM_015658 NP_056473 Q9Y3T9 NOC2L_HUMAN Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA. 331 nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) CCTTGAGGACGGGGCCAAGGA 0.607000 24 7 0 0 0.000157383 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72137929 72137929 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:72137929C>T uc001xms.3 + 7 2710 c.2349C>T c.(2347-2349)ttC>ttT p.F783F SIPA1L1_uc001xmt.3_Silent_p.F783F|SIPA1L1_uc001xmu.3_Silent_p.F783F|SIPA1L1_uc001xmv.3_Silent_p.F783F|SIPA1L1_uc010ttm.2_Silent_p.F258F NM_015556 NP_056371 O43166 SI1L1_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA. 783 Rap-GAP. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) TCAGGGACTTCCTTTTGGCGA 0.498000 89 97 0 0 0.000781405 0 0 ABCC11 85320 broad.mit.edu 37 16 48250034 48250034 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:48250034G>A uc002eff.1 - 5 1292 c.942C>T c.(940-942)ttC>ttT p.F314F ABCC11_uc002efg.1_Silent_p.F314F|ABCC11_uc002efh.1_Silent_p.F314F|ABCC11_uc010vgk.1_5'Flank|ABCC11_uc010vgl.1_Silent_p.F314F NM_033151 NP_149163 Q96J66 ABCCB_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA. 314 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CCGCCAGTGGGAAAACCAGGA 0.473000 83 24 0 0 0.000586117 0 0 ITGB8 3696 broad.mit.edu 37 7 20420314 20420314 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:20420314C>T uc003suu.3 + 4 1366 c.661C>T c.(661-663)Ccc>Tcc p.P221S ITGB8_uc011jyh.2_Missense_Mutation_p.P86S|ITGB8_uc003sut.3_Missense_Mutation_p.P221S NM_002214 NP_002205 P26012 ITB8_HUMAN Homo sapiens integrin, beta 8 (ITGB8), mRNA. 221 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 CTGCATGCCTCCCCATGGATA 0.383000 94 21 0 0 0.00229938 0 0 EDNRA 1909 broad.mit.edu 37 4 148461043 148461043 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:148461043C>T uc003iky.3 + 5 1505 c.975C>T c.(973-975)agC>agT p.S325S EDNRA_uc011cid.2_Silent_p.S100S|EDNRA_uc010ipg.2_Silent_p.S216S|EDNRA_uc010ipf.1_Non-coding_Transcript NM_001957 NP_001948 P25101 EDNRA_HUMAN Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA. 325 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) TTCATTTAAGCCGTATATTGA 0.383000 82 43 0 0 0.00222228 0 0 IPO8 10526 broad.mit.edu 37 12 30833521 30833521 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:30833521G>A uc001rjd.3 - 4 882 c.534C>T c.(532-534)ttC>ttT p.F178F NM_006390 NP_006381 O15397 IPO8_HUMAN Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA. 178 intracellular protein transport|signal transduction cytoplasm|nucleus Ran GTPase binding|protein transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TACGAGGCAGGAATATCTGCA 0.353000 88 35 0 0 0.00148497 0 0 MUC16 94025 broad.mit.edu 37 19 9085246 9085246 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9085246G>A uc002mkp.3 - 0 6773 c.6569C>T c.(6568-6570)tCt>tTt p.S2190F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2190 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 GGAAACCAAAGACTCTGAAGT 0.463000 32 10 0 0 0.000673444 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84611407 84611407 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:84611407G>A uc002bjz.4 + 17 2401 c.2177G>A c.(2176-2178)cGa>cAa p.R726Q ADAMTSL3_uc010bmt.1_Missense_Mutation_p.R726Q NM_207517 NP_997400 P82987 ATL3_HUMAN Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA. 726 TSP type-1 5. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) ATTCAGACCCGAGATGTGTAC 0.537000 41 10 0 0 0.000978159 0 0 C9orf71 169693 broad.mit.edu 37 9 71152294 71152294 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:71152294C>T uc004agt.3 - 1 447 c.394G>A c.(394-396)Gaa>Aaa p.E132K AK130904_uc004ags.1_Non-coding_Transcript NM_153237 NP_694969 Q8N6L7 CI071_HUMAN Homo sapiens chromosome 9 open reading frame 71 (C9orf71), mRNA. 132 integral to membrane endometrium(1)|lung(2)|prostate(1) 4 TCCTGGAATTCCAGGCCCGTC 0.552000 32 18 0 0 0.000958276 0 0 CHD4 1108 broad.mit.edu 37 12 6710877 6710877 + Missense_Mutation SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:6710877T>A uc001qpo.3 - 4 658 c.494A>T c.(493-495)cAc>cTc p.H165L CHD4_uc001qpn.3_Missense_Mutation_p.H158L|CHD4_uc001qpp.3_Missense_Mutation_p.H162L NM_001273 NP_001264 Q14839 CHD4_HUMAN Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA. 165 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NuRD complex|microtubule organizing center ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TGAGAACACGTGGTCAATGTC 0.512000 213 79 0 0 0.000781405 0 0 KRT14 3861 broad.mit.edu 37 17 39743049 39743049 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:39743049G>A uc002hxf.2 - 0 99 c.38C>T c.(37-39)tCc>tTc p.S13F JUP_uc010wfs.2_Intron NM_000526 NP_000517 P02533 K1C14_HUMAN Homo sapiens keratin 14 (KRT14), mRNA. 13 Head. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) GCCCTTCATGGAGCTGGAGGA 0.682000 4 3 0 0 0.000602214 0 0 FAM188A 80013 broad.mit.edu 37 10 15838110 15838110 + Missense_Mutation SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:15838110T>A uc001iod.1 - 10 1165 c.944A>T c.(943-945)tAc>tTc p.Y315F FAM188A_uc001ioe.1_Missense_Mutation_p.Y142F NM_024948 NP_079224 Q9H8M7 F188A_HUMAN Homo sapiens family with sequence similarity 188, member A (FAM188A), mRNA. 315 apoptosis nucleus calcium ion binding breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 22 TTCTGGGTCGTAGGTTTGAAA 0.358000 32 16 0 0 0.000422831 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270807 1270807 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:1270807C>T uc002cks.3 + 34 7123 c.6875C>T c.(6874-6876)tCc>tTc p.S2292F CACNA1H_uc002ckt.3_Missense_Mutation_p.S2286F|CACNA1H_uc002cku.3_Missense_Mutation_p.S987F|CACNA1H_uc010brj.3_Missense_Mutation_p.S1003F|CACNA1H_uc002ckv.3_Missense_Mutation_p.S981F NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 2292 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) ACCCCAGAATCCAGAGCTTCC 0.637000 25 40 0 0 0.00128727 0 0 MAP9 79884 broad.mit.edu 37 4 156268978 156268978 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:156268978G>A uc003ios.3 - 13 2165 c.1901C>T c.(1900-1902)cCg>cTg p.P634L MAP9_uc011cin.2_Missense_Mutation_p.P609L NM_001039580 NP_001034669 Q49MG5 MAP9_HUMAN Homo sapiens microtubule-associated protein 9 (MAP9), mRNA. 634 cell division|mitosis cytoplasm|microtubule|spindle NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) AGGGCTCCACGGAGGAAGTGC 0.358000 6 4 0 0 0.000602214 0 0 KRTAP13-1 140258 broad.mit.edu 37 21 31768610 31768610 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:31768610C>T uc002yoa.3 + 0 219 c.206C>T c.(205-207)tCc>tTc p.S69F NM_181599 NP_853630 Q8IUC0 KR131_HUMAN Homo sapiens keratin associated protein 13-1 (KRTAP13-1), mRNA. 69 5 X 10 AA approximate repeats. intermediate filament p.S69S(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGCCAGACATCCTATGTGGAG 0.597000 19 41 0 0 0.00222228 0 0 OR4X2 119764 broad.mit.edu 37 11 48266932 48266932 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:48266932C>T uc001ngs.1 + 0 277 c.277C>T c.(277-279)Ctt>Ttt p.L93F NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA. 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 CATGGCACAGCTTTTCTTCTT 0.517000 38 19 0 0 0.00188189 0 0 ASAH2 56624 broad.mit.edu 37 10 51974591 51974591 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:51974591C>T uc001jjd.3 - 7 1052 c.1052G>A c.(1051-1053)gGa>gAa p.G351E ASAH2_uc009xos.3_Missense_Mutation_p.G351E NM_019893 NP_063946 Q9NR71 ASAH2_HUMAN Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA. 351 apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity large_intestine(1)|lung(9)|urinary_tract(1) 11 GGACACATCTCCTAGGTTTGA 0.448000 1 11 0 0 0.00136819 0 0 SRCAP 10847 broad.mit.edu 37 16 30724869 30724869 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:30724869C>T uc002dze.1 + 15 2715 c.2330C>T c.(2329-2331)cCc>cTc p.P777L SRCAP_uc021tgn.1_Missense_Mutation_p.P777L|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P634L NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA. 777 Helicase ATP-binding. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) ACAGGAACTCCCTTGCAGAAC 0.512000 68 31 0 0 0.000953801 0 0 SAMD9L 219285 broad.mit.edu 37 7 92763134 92763134 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:92763134C>T uc003umh.1 - 4 3367 c.2151G>A c.(2149-2151)aaG>aaA p.K717K SAMD9L_uc003umj.1_Silent_p.K717K|SAMD9L_uc003umi.1_Silent_p.K717K|SAMD9L_uc010lfb.1_Silent_p.K717K|SAMD9L_uc003umk.1_Silent_p.K717K|SAMD9L_uc010lfc.1_Silent_p.K717K|SAMD9L_uc010lfd.1_Silent_p.K717K|SAMD9L_uc022ahh.1_Silent_p.K717K NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 717 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) AATCTTTAAGCTTTTCATAAC 0.368000 18 26 0 0 0.000720815 0 0 CYP2C19 1557 broad.mit.edu 37 10 96447642 96447642 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:96447642C>T uc001kjv.4 + 1 610 c.284C>T c.(283-285)tCt>tTt p.S95F CYP2C19_uc001kjw.4_Missense_Mutation_p.S95F|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.2_5'Flank NM_000772 NP_000763 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA. 95 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) GAGGAGTTTTCTGGAAGAGGA 0.458000 27 26 0 0 0.001512 0 0 PLCH1 23007 broad.mit.edu 37 3 155215207 155215207 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:155215207C>T uc021xge.1 - 14 2038 c.1761_splice c.e14-1 p.R587_splice PLCH1_uc021xgd.1_Splice_Site_p.R587_splice|PLCH1_uc021xgf.1_Splice_Site_p.R569_splice NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA. 587 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GCGACCCAATCTGTGAAGTAC 0.458000 42 21 0 0 0.00152264 0 0 KRT6A 3853 broad.mit.edu 37 12 52881884 52881884 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:52881884C>T uc001sam.3 - 7 1637 c.1428G>A c.(1426-1428)ctG>ctA p.L476L NM_005554 NP_005545 P02538 K2C6A_HUMAN Homo sapiens keratin 6A (KRT6A), mRNA. 476 Tail. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) CTTCGCCATTCAGCCTGTGGA 0.582000 35 17 0 0 0.00188189 0 0 FAM171A1 221061 broad.mit.edu 37 10 15255455 15255455 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:15255455G>A uc001iob.3 - 7 2139 c.2132C>T c.(2131-2133)tCc>tTc p.S711F NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA. 711 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 GCCATCCAAGGAGACGAACCA 0.552000 36 29 0 0 0.00178596 0 0 MTMR1 8776 broad.mit.edu 37 X 149919206 149919206 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:149919206C>T uc004feh.1 + 13 1706 c.1571C>T c.(1570-1572)cCt>cTt p.P524L MTMR1_uc011mya.1_Missense_Mutation_p.P422L|MTMR1_uc004fei.3_Missense_Mutation_p.P516L|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Non-coding_Transcript NM_003828 NP_003819 Q13613 MTMR1_HUMAN Homo sapiens myotubularin related protein 1 (MTMR1), mRNA. 516 Myotubularin phosphatase. plasma membrane protein tyrosine phosphatase activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) TTTAAGTTTCCTTCAGCATTC 0.328000 23 37 0 0 0.000814825 0 0 VAX2 25806 broad.mit.edu 37 2 71160080 71160080 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:71160080C>T uc002shh.3 + 2 651 c.619C>T c.(619-621)Ctg>Ttg p.L207L ATP6V1B1_uc002shi.1_5'Flank|ATP6V1B1_uc002shj.3_5'Flank NM_012476 NP_036608 Q9UIW0 VAX2_HUMAN Homo sapiens ventral anterior homeobox 2 (VAX2), mRNA. 207 ectoderm development|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 7 GACCCCTAGCCTGCCAGGCCT 0.697000 35 12 0 0 0.00185496 0 0 MARCH10 162333 broad.mit.edu 37 17 60814507 60814507 + Missense_Mutation SNP C T T rs17853369 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:60814507C>T uc010dds.3 - 6 1121 c.836G>A c.(835-837)gGa>gAa p.G279E MARCH10_uc010ddr.3_Missense_Mutation_p.G241E|MARCH10_uc002jag.4_Missense_Mutation_p.G241E|MARCH10_uc002jah.2_Missense_Mutation_p.G240E|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript NM_152598 NP_689811 Q8NA82 MARHA_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA. 241 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 ACTATTTTTTCCTTGGAAGGC 0.532000 163 40 0 0 0.000953801 0 0 SMOC1 64093 broad.mit.edu 37 14 70461188 70461188 + Silent SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:70461188A>C uc001xlt.2 + 6 937 c.655A>C c.(655-657)Aga>Cga p.R219R SMOC1_uc001xls.2_Silent_p.R219R NM_001034852 NP_001030024 Q9H4F8 SMOC1_HUMAN Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA. 219 cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) CACCAACATAAGAAATTCAGG 0.413000 118 43 0 0 0.00195071 0 0 ZNF831 128611 broad.mit.edu 37 20 57766491 57766491 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:57766491G>A uc002yan.3 + 0 417 c.417G>A c.(415-417)cgG>cgA p.R139R NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 139 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) GCAAGGTGCGGAATGCGGGCA 0.672000 30 57 0 0 0.000781405 0 0 MYOM1 8736 broad.mit.edu 37 18 3102484 3102484 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:3102484C>T uc002klp.3 - 22 3897 c.3563G>A c.(3562-3564)aGc>aAc p.S1188N MYOM1_uc002klq.3_Missense_Mutation_p.S1092N NM_003803 NP_003794 P52179 MYOM1_HUMAN Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA. 1188 Ig-like C2-type 3. striated muscle myosin thick filament structural constituent of muscle p.E1187K(1) NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GTTGCCCTTGCTTTCGACTTC 0.428000 227 53 0 0 0.000781405 0 0 ZBED2 79413 broad.mit.edu 37 3 111312580 111312580 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:111312580C>T uc003dxy.3 - 1 1370 c.469G>A c.(469-471)Gaa>Aaa p.E157K CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.E157K NM_024508 NP_078784 Q9BTP6 ZBED2_HUMAN Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA. 157 DNA binding|metal ion binding p.R156R(1) large_intestine(3)|lung(1)|skin(2) 6 ACCTCCTTTTCCCTTTGGCTG 0.627000 47 23 0 0 0.00106085 0 0 SDHC 6391 broad.mit.edu 37 1 161298193 161298193 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:161298193C>T uc001gag.3 + 2 115 c.85C>T c.(85-87)Cct>Tct p.P29S SDHC_uc001gah.3_Intron|SDHC_uc001gai.3_Missense_Mutation_p.P29S|SDHC_uc001gaj.3_Intron|SDHC_uc001gak.3_Intron NM_003001 NP_002992 Q99643 C560_HUMAN Homo sapiens succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa (SDHC), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 29 respiratory electron transport chain|transport|tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex electron carrier activity|heme binding|succinate dehydrogenase activity urinary_tract(1) 1 all_cancers(52;6.96e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) Succinic acid(DB00139) TAGTGCTGTTCCTTTGGGAAC 0.368000 """Mis, N, F""" """paraganglioma, pheochromocytoma""" Familial Paragangliomas;Carney-Stratakis syndrome 120 63 0 0 0.000781405 0 0 CCT6A 908 broad.mit.edu 37 7 56126106 56126106 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:56126106C>T uc003trl.1 + 6 941 c.777C>T c.(775-777)ctC>ctT p.L259L PSPH_uc003trj.3_Intron|CCT6A_uc003trm.1_Silent_p.L214L|CCT6A_uc011kcu.1_Silent_p.L228L|SNORA15_uc003trn.1_5'Flank NM_001762 NP_001753 P40227 TCPZ_HUMAN Homo sapiens chaperonin containing TCP1, subunit 6A (zeta 1) (CCT6A), transcript variant 1, mRNA. 259 'de novo' posttranslational protein folding cytosol ATP binding|unfolded protein binding breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 15 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GAGAAAAACTCGTGAAAGCTG 0.313000 70 13 0 0 0.00244969 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887686 12887686 + Silent SNP T C C rs59802947 by1000genomes TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:12887686T>C uc001auk.2 - 2 367 c.171A>G c.(169-171)agA>agG p.R57R NM_001146344 NP_001139816 O60813 PRA11_HUMAN Homo sapiens PRAME family member 11 (PRAMEF11), mRNA. 57 p.R57R(2) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGTTTCCATCTCCTGTGGG 0.468000 437 11 0 0 0.00229938 0 0 LONP2 83752 broad.mit.edu 37 16 48290548 48290548 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:48290548C>T uc002efi.1 + 2 585 c.496C>T c.(496-498)Cct>Tct p.P166S MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Intron|LONP2_uc002efj.1_Intron NM_031490 NP_113678 Q86WA8 LONP2_HUMAN Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA. 166 Lon. misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity p.P166R(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 TATGTCTGTCCCTGCAGTTGC 0.348000 76 24 0 0 0.00047179 0 0 NPR1 4881 broad.mit.edu 37 1 153659521 153659521 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:153659521G>A uc001fcs.4 + 11 2314 c.1893G>A c.(1891-1893)ctG>ctA p.L631L NPR1_uc010pdz.2_Silent_p.L377L|NPR1_uc010pea.2_Silent_p.L109L NM_000906 NP_000897 P16066 ANPRA_HUMAN Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA. 631 Protein kinase. body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity p.L631M(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GCATCACCCTGGACTGGATGT 0.562000 57 13 0 0 0.00074312 0 0 BTBD11 121551 broad.mit.edu 37 12 108008863 108008863 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:108008863C>T uc001tmk.1 + 6 2446 c.1925C>T c.(1924-1926)cCa>cTa p.P642L BTBD11_uc009zut.1_Missense_Mutation_p.P642L|BTBD11_uc001tmj.3_Missense_Mutation_p.P642L|BTBD11_uc001tml.1_Missense_Mutation_p.P179L NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA. 642 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 CATAAATATCCATCCGTCCAC 0.418000 38 11 0 0 0.000673444 0 0 SF3B4 10262 broad.mit.edu 37 1 149895580 149895580 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:149895580G>A uc001etk.2 - 5 1622 c.1129C>T c.(1129-1131)Cct>Tct p.P377S NM_005850 NP_005841 Q15427 SF3B4_HUMAN Homo sapiens splicing factor 3b, subunit 4, 49kDa (SF3B4), mRNA. 377 U12-type spliceosomal complex|nucleoplasm RNA binding|nucleotide binding|protein binding endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) ATCAGTGGAGGAGGTCCACGC 0.617000 64 17 0 0 0.00121646 0 0 CBLB 868 broad.mit.edu 37 3 105470439 105470439 + Missense_Mutation SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:105470439A>T uc003dwc.3 - 4 912 c.590T>A c.(589-591)tTc>tAc p.F197Y CBLB_uc011bhi.2_Missense_Mutation_p.F219Y|CBLB_uc003dwd.2_Missense_Mutation_p.F197Y|CBLB_uc003dwe.2_Missense_Mutation_p.F197Y|CBLB_uc011bhj.1_Non-coding_Transcript NM_170662 NP_733762 Q13191 CBLB_HUMAN Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA. 197 Cbl-PTB.|EF-hand-like. NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 GCACTGTCTGAATACTTTCCA 0.373000 Mis S AML 21 13 0 0 0.000566183 0 0 SOGA3 387104 broad.mit.edu 37 6 127796668 127796668 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:127796668C>T uc003qbd.3 - 5 3368 c.2503G>A c.(2503-2505)Gac>Aac p.D835N KIAA0408_uc003qbc.3_5'UTR NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA. 835 integral to membrane GTGCTCGTGTCGGCGATGAGC 0.672000 52 38 0 0 0.00222228 0 0 KIAA1217 56243 broad.mit.edu 37 10 24669984 24669984 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:24669984G>A uc001iru.4 + 2 944 c.541G>A c.(541-543)Gaa>Aaa p.E181K KIAA1217_uc001irs.3_Missense_Mutation_p.E101K|KIAA1217_uc001irt.4_Missense_Mutation_p.E181K|KIAA1217_uc010qcy.2_Missense_Mutation_p.E181K|KIAA1217_uc010qcz.2_Missense_Mutation_p.E181K|KIAA1217_uc001irv.1_Missense_Mutation_p.E31K|KIAA1217_uc010qda.1_Non-coding_Transcript NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 181 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 CCAGACGAAAGAAAGATCTCT 0.478000 8 12 0 0 0.000978159 0 0 MYH6 4624 broad.mit.edu 37 14 23863047 23863047 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:23863047G>A uc001wjv.3 - 21 2827 c.2756C>T c.(2755-2757)gCc>gTc p.A919V NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 919 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle p.A919V(4) breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CTTTACTTTGGCCTCCAGCTG 0.527000 78 28 0 0 0.000720815 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140249705 140249705 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140249705C>T uc003lia.2 + 0 1875 c.1017C>T c.(1015-1017)atC>atT p.I339I PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.I339I NM_018902 NP_061725 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA. 355 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGTGGAAATCTTGGACACCA 0.493000 17 30 0 0 0.00209593 0 0 AADACL4 343066 broad.mit.edu 37 1 12711266 12711266 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:12711266C>T uc001auf.3 + 1 293 c.293C>T c.(292-294)cCc>cTc p.P98L NM_001013630 NP_001013652 Q5VUY2 ADCL4_HUMAN Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA. 98 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) GGGACGATACCCGTGAGGCTG 0.522000 61 17 0 0 0.000958276 0 0 TMEM176B 28959 broad.mit.edu 37 7 150491073 150491073 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:150491073G>A uc022apx.1 - 1 417 c.291C>T c.(289-291)ggC>ggT p.G97G TMEM176B_uc003whu.4_Silent_p.G97G|TMEM176B_uc003whv.4_Intron|TMEM176B_uc003whw.4_Silent_p.G97G NM_014020 NP_054739 Q3YBM2 T176B_HUMAN Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA. 97 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGAAGGCACAGCCTGAGGCAC 0.567000 124 27 0 0 0.00127121 0 0 GPR149 344758 broad.mit.edu 37 3 154147234 154147234 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:154147234G>A uc003faa.3 - 0 271 c.171C>T c.(169-171)tcC>tcT p.S57S NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA. 57 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TTTTCAGCAGGGAAATTAGTG 0.443000 53 21 0 0 0.00152264 0 0 KLK10 5655 broad.mit.edu 37 19 51518107 51518107 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:51518107G>A uc002pva.3 - 5 900 c.780C>T c.(778-780)acC>acT p.T260T KLK10_uc002puy.3_Silent_p.T260T|KLK10_uc002puz.3_Silent_p.T260T NM_001077500 NP_665895 O43240 KLK10_HUMAN Homo sapiens kallikrein-related peptidase 10 (KLK10), transcript variant 3, mRNA. 260 Peptidase S1. cell cycle|proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) TGCAGATCTGGGTGTAGACAG 0.547000 87 23 0 0 0.00229938 0 0 KIF21B 23046 broad.mit.edu 37 1 200972830 200972830 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:200972830G>A uc001gvs.2 - 7 1413 c.1096C>T c.(1096-1098)Cgg>Tgg p.R366W KIF21B_uc009wzl.2_Missense_Mutation_p.R366W|KIF21B_uc001gvr.2_Missense_Mutation_p.R366W|KIF21B_uc010ppn.2_Missense_Mutation_p.R366W|KIF21B_uc001gvt.1_Missense_Mutation_p.R224W NM_001252100 NP_001239029 O75037 KI21B_HUMAN Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA. 366 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.R366W(2) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TTGCGGGCCCGATTGGCATAT 0.552000 68 44 0 0 0.000680045 0 0 ASTN2 23245 broad.mit.edu 37 9 119858380 119858380 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:119858380C>T uc004bjt.2 - 3 1167 c.1066G>A c.(1066-1068)Gat>Aat p.D356N ASTN2_uc022bml.1_Missense_Mutation_p.D56N|ASTN2_uc022bmm.1_Missense_Mutation_p.D56N NM_014010 NP_054729 O75129 ASTN2_HUMAN Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA. 407 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 TGAGTTTCATCGTCTGCCTCT 0.527000 41 9 0 0 0.000442599 0 0 SNTG2 54221 broad.mit.edu 37 2 1204876 1204876 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:1204876G>A uc002qwq.3 + 8 808 c.679G>A c.(679-681)Gct>Act p.A227T SNTG2_uc010ewi.3_Missense_Mutation_p.A100T NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA. 227 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex PDZ domain binding|actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) TCTGTCCATGGCTCGCATCTC 0.527000 143 32 0 0 0.00283554 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519909 113519909 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:113519909C>T uc010ljy.1 - 3 1269 c.1238G>A c.(1237-1239)gGa>gAa p.G413E NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 413 glycogen metabolic process integral to membrane p.G413G(1) NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 CTTGATTTCTCCCATATTTGA 0.403000 57 15 0 0 0.00074312 0 0 TCL1B 9623 broad.mit.edu 37 14 96152929 96152929 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:96152929C>T uc001yfa.3 + 0 176 c.125C>T c.(124-126)tCg>tTg p.S42L TCL1B_uc021sbi.1_Intron|TCL1B_uc001yew.3_Intron|TCL1B_uc001yex.3_Intron|TCL1B_uc010avj.3_Intron|TCL1B_uc001yez.3_Missense_Mutation_p.S42L NM_004918 NP_004909 O95988 TCL1B_HUMAN Homo sapiens T-cell leukemia/lymphoma 1B (TCL1B), transcript variant 1, mRNA. 42 p.S42S(1) cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) TTCAATCCCTCGCGTAGGGAA 0.672000 36 15 0 0 0.00244969 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30688741 30688741 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:30688741G>A uc010gvu.3 - 8 1256 c.1171C>T c.(1171-1173)Ccg>Tcg p.P391S TBC1D10A_uc003ahf.3_Intron|TBC1D10A_uc003ahg.3_Intron|TBC1D10A_uc003ahh.3_Intron|TBC1D10A_uc003ahi.3_Intron|TBC1D10A_uc010gvq.3_Intron|TBC1D10A_uc003ahk.4_Missense_Mutation_p.P384S NM_001204240 NP_001191169 Q9BXI6 TB10A_HUMAN Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 1, mRNA. 384 intracellular|microvillus PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 AGCCTGGGCGGGGAGCGGCAC 0.657000 35 54 0 0 0.000781405 0 0 SPEF2 79925 broad.mit.edu 37 5 35779244 35779244 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:35779244C>T uc003jjo.3 + 29 4354 c.4243C>T c.(4243-4245)Cgc>Tgc p.R1415C SPEF2_uc003jjp.1_Missense_Mutation_p.R901C|SPEF2_uc003jjr.3_5'UTR NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 1415 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGACGTAGCTCGCTATCACAT 0.323000 22 9 0 0 0.000673444 0 0 CACNA1I 8911 broad.mit.edu 37 22 40069009 40069009 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:40069009G>A uc003ayc.3 + 27 4705 c.4705G>A c.(4705-4707)Gag>Aag p.E1569K CACNA1I_uc003ayd.3_Missense_Mutation_p.E1534K|CACNA1I_uc003aye.3_Missense_Mutation_p.E1484K|CACNA1I_uc003ayf.3_Missense_Mutation_p.E1449K NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA. 1569 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CATCACCCTGGAGGAGATCGA 0.602000 88 77 0 0 0.000781405 0 0 COL17A1 1308 broad.mit.edu 37 10 105824202 105824202 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:105824202C>T uc001kxr.3 - 9 929 c.760G>A c.(760-762)Gga>Aga p.G254R COL17A1_uc010qqv.1_Missense_Mutation_p.G238R|COL17A1_uc009xxp.1_Missense_Mutation_p.G254R NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA. 254 Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GTACCTGATCCCGCAGAGTAG 0.597000 10 16 0 0 0.00074312 0 0 FAT2 2196 broad.mit.edu 37 5 150945775 150945775 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:150945775G>A uc003lue.4 - 0 2731 c.2718C>T c.(2716-2718)ttC>ttT p.F906F FAT2_uc010jhx.1_Silent_p.F906F NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 906 Cadherin 7. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGTGACAGAGAAGAGCTGGT 0.552000 28 8 0 0 0.000274275 0 0 GJA3 2700 broad.mit.edu 37 13 20716813 20716813 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:20716813G>A uc001umx.1 - 1 787 c.615C>T c.(613-615)atC>atT p.I205I GJA3_uc021rgz.1_Silent_p.I205I NM_021954 NP_068773 Q9Y6H8 CXA3_HUMAN Homo sapiens gap junction protein, alpha 3, 46kDa (GJA3), mRNA. 205 cell-cell signaling|visual perception connexon complex|integral to membrane NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784) CCAGCATGAAGATGATGAAGA 0.632000 25 17 0 0 0.000566183 0 0 POLR2B 5431 broad.mit.edu 37 4 57896476 57896476 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:57896476G>A uc003hcl.1 + 23 3389 c.3346G>A c.(3346-3348)Gtt>Att p.V1116I POLR2B_uc011cae.1_Missense_Mutation_p.V1109I|POLR2B_uc011caf.1_Missense_Mutation_p.V1041I|POLR2B_uc003hcm.1_Missense_Mutation_p.V609I NM_000938 NP_000929 P30876 RPB2_HUMAN Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA. 1116 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding p.V1116F(4)|p.V1116I(2) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) TCCATATCAGGTTCATGTTTG 0.458000 26 33 0 0 0.00283554 0 0 DCHS1 8642 broad.mit.edu 37 11 6650991 6650991 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:6650991G>A uc001mem.1 - 10 5348 c.4947C>T c.(4945-4947)ttC>ttT p.F1649F NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA. 1649 Cadherin 15. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTGCTGCTGGAAAGTAGGCG 0.642000 16 14 0 0 0.000308642 0 0 CAPN13 92291 broad.mit.edu 37 2 30966359 30966359 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:30966359G>A uc021vfn.1 - 11 1367 c.1335C>T c.(1333-1335)ttC>ttT p.F445F CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Silent_p.F441F|CAPN13_uc002rno.3_5'UTR NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN Homo sapiens calpain 13 (CAPN13), mRNA. 445 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) AAGTCATGGTGAAGTTGCGGC 0.468000 196 62 0 0 0.000781405 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28338312 28338312 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:28338312C>T uc002ymg.3 - 0 1128 c.399G>A c.(397-399)cgG>cgA p.R133R NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA. 133 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding p.R133Q(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 CCACTGTGCCCCGATAGAAGC 0.657000 21 13 0 0 0.00136819 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999685 46999685 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:46999685G>A uc001jec.3 + 2 940 c.805G>A c.(805-807)Ggg>Agg p.G269R GPRIN2_uc021ppt.1_Missense_Mutation_p.G269R NM_014696 NP_055511 O60269 GRIN2_HUMAN Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA. 269 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 GAGCGAGTCTGGGCTGCAGGC 0.627000 90 20 0 0 0.00152264 0 0 GHITM 27069 broad.mit.edu 37 10 85901294 85901294 + Missense_Mutation SNP C G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:85901294C>G uc001kcs.1 + 1 242 c.38C>G c.(37-39)cCt>cGt p.P13R GHITM_uc010qma.1_5'UTR|GHITM_uc010qmb.1_5'Flank NM_014394 NP_055209 Q9H3K2 GHITM_HUMAN Homo sapiens growth hormone inducible transmembrane protein (GHITM), mRNA. 13 apoptosis integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2) 10 CGGACACTACCTTCTAGGGTT 0.483000 22 12 0 0 0.00185496 0 0 MYH8 4626 broad.mit.edu 37 17 10300146 10300146 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:10300146C>T uc002gmm.2 - 30 4431 c.4336G>A c.(4336-4338)Gat>Aat p.D1446N AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1446 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 TGCTTCTTATCAAGGGCTGCA 0.448000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 32 31 0 0 0.0024448 0 0 SLC44A1 23446 broad.mit.edu 37 9 108127850 108127850 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:108127850C>T uc004bcn.3 + 10 1561 c.1340C>T c.(1339-1341)tCt>tTt p.S447F SLC44A1_uc004bco.1_Missense_Mutation_p.S239F NM_080546 NP_536856 Q8WWI5 CTL1_HUMAN Homo sapiens solute carrier family 44, member 1 (SLC44A1), mRNA. 447 integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 38 Choline(DB00122) GCAAAAGGATCTTTCATTATC 0.363000 79 23 0 0 0.00229938 0 0 TNXB 7148 broad.mit.edu 37 6 32038147 32038147 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:32038147C>T uc003nzl.2 - 13 5237 c.5035G>A c.(5035-5037)Gag>Aag p.E1679K NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 1761 Fibronectin type-III 9. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ACCCACAGCTCCCCAAGGCGG 0.582000 50 47 0 0 0.000781405 0 0 PPFIBP2 8495 broad.mit.edu 37 11 7672110 7672110 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:7672110C>T uc001mfj.4 + 21 2549 c.2161C>T c.(2161-2163)Cac>Tac p.H721Y PPFIBP2_uc010rbb.1_Missense_Mutation_p.H644Y|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.2_Missense_Mutation_p.H655Y|PPFIBP2_uc010rbe.2_Missense_Mutation_p.H609Y|PPFIBP2_uc001mfl.4_Missense_Mutation_p.H578Y|PPFIBP2_uc009yfj.1_Missense_Mutation_p.H365Y NM_003621 NP_003612 Q8ND30 LIPB2_HUMAN Homo sapiens PTPRF interacting protein, binding protein 2 (liprin beta 2) (PPFIBP2), mRNA. 721 SAM 3. DNA integration|cell communication intracellular DNA binding|integrase activity|protein binding breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) GTGGTCCAACCACAGGGTGAT 0.522000 33 32 0 0 0.00283554 0 0 SRPX2 27286 broad.mit.edu 37 X 99922337 99922337 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:99922337G>A uc004egb.3 + 8 1508 c.1028G>A c.(1027-1029)cGa>cAa p.R343Q NM_014467 NP_055282 O60687 SRPX2_HUMAN Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA. 343 angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation cytoplasm|extracellular region receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1) 19 GAGAAACAGCGACTCCTCATC 0.478000 32 27 0 0 0.00178596 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900195 151900195 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:151900195C>T uc022chj.1 - 0 606 c.606G>A c.(604-606)ctG>ctA p.L202L MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Silent_p.L202L|MAGEA12_uc022chi.1_Silent_p.L202L|MAGEA12_uc004fgc.3_Silent_p.L202L NM_005367 NP_005358 P43365 MAGAC_HUMAN Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA. 202 MAGE. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) GGACGATTATCAGGAGGCCTG 0.582000 62 56 0 0 0.000781405 0 0 GAA 2548 broad.mit.edu 37 17 78092138 78092138 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:78092138C>T uc002jxp.3 + 17 2995 c.2628C>T c.(2626-2628)gtC>gtT p.V876V GAA_uc002jxo.3_Silent_p.V876V|GAA_uc002jxq.3_Silent_p.V876V NM_000152 NP_001073272 P10253 LYAG_HUMAN Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA. 876 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) ACACACAGGTCATCTTCCTGG 0.672000 81 25 0 0 0.000720815 0 0 SHANK1 50944 broad.mit.edu 37 19 51219543 51219543 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:51219543G>A uc002psx.1 - 1 467 c.448C>T c.(448-450)Ccc>Tcc p.P150S NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA. 150 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) TCCAGGTAGGGGACCCCCTTC 0.582000 74 20 0 0 0.000958276 0 0 RXFP1 59350 broad.mit.edu 37 4 159529150 159529150 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:159529150C>T uc003ipz.3 + 5 754 c.491C>T c.(490-492)tCc>tTc p.S164F RXFP1_uc010iqj.2_5'UTR|RXFP1_uc010iqk.3_Missense_Mutation_p.S32F|RXFP1_uc011cja.2_Missense_Mutation_p.S83F|RXFP1_uc010iqo.3_Missense_Mutation_p.S164F|RXFP1_uc011cjb.2_Missense_Mutation_p.S110F|RXFP1_uc011cjc.2_Missense_Mutation_p.S83F|RXFP1_uc011cjd.2_Missense_Mutation_p.S83F|RXFP1_uc010iql.3_Missense_Mutation_p.S32F|RXFP1_uc011cje.2_Missense_Mutation_p.S191F|RXFP1_uc010iqm.3_Missense_Mutation_p.S131F|RXFP1_uc011cjf.2_Missense_Mutation_p.S34F|RXFP1_uc010iqn.3_Missense_Mutation_p.S110F NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA. 164 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) AAGATTACATCCATCTCCATC 0.353000 26 34 0 0 0.000814825 0 0 GJB5 2709 broad.mit.edu 37 1 35223641 35223641 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:35223641C>T uc001bxu.3 + 1 810 c.710C>T c.(709-711)tCc>tTc p.S237F GJB5_uc021okz.1_Missense_Mutation_p.S237F|GJB4_uc001bxv.1_5'Flank NM_005268 NP_005259 O95377 CXB5_HUMAN Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA. 237 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) ACCACCTCTTCCTGCAAACAA 0.557000 69 35 0 0 0.000953801 0 0 GRIA1 2890 broad.mit.edu 37 5 153029980 153029980 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:153029980G>A uc011dcy.2 + 3 608 c.581G>A c.(580-582)gGa>gAa p.G194E GRIA1_uc003lva.4_Missense_Mutation_p.G184E|GRIA1_uc003luy.4_Missense_Mutation_p.G184E|GRIA1_uc003luz.4_Missense_Mutation_p.G89E|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.G104E|GRIA1_uc011dcx.2_Missense_Mutation_p.G115E|GRIA1_uc011dcz.2_Missense_Mutation_p.G194E|GRIA1_uc010jia.1_Missense_Mutation_p.G164E NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 184 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.E193E(1) NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ACAGAGGAGGGATACCGGATG 0.512000 36 23 0 0 0.000586117 0 0 PGK2 5232 broad.mit.edu 37 6 49753833 49753833 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:49753833C>T uc003ozu.3 - 0 1221 c.1068G>A c.(1066-1068)atG>atA p.M356I NM_138733 NP_620061 P07205 PGK2_HUMAN Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA. 356 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) CAATTTCATCCATGAGGGCTT 0.463000 25 18 0 0 0.00121646 0 0 TPR 7175 broad.mit.edu 37 1 186294972 186294972 + Silent SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:186294972A>G uc001grv.3 - 41 6333 c.6036T>C c.(6034-6036)acT>acC p.T2012T MIR548F1_uc021pgf.1_Intron NM_003292 NP_003283 P12270 TPR_HUMAN Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA. 2012 carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TACCTGGATCAGTCCCATCAC 0.363000 T NTRK1 papillary thyroid 27 34 0 0 0.00058488 0 0 MYH2 4620 broad.mit.edu 37 17 10432385 10432385 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:10432385C>T uc010coi.3 - 26 3494 c.3366G>A c.(3364-3366)gaG>gaA p.E1122E AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.E1122E|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1122 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.E1122Q(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CCTCCAGCTCCTCAATGCGGG 0.552000 15 12 0 0 0.00185496 0 0 TAF1L 138474 broad.mit.edu 37 9 32631485 32631485 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:32631485G>A uc003zrg.1 - 0 4183 c.4093C>T c.(4093-4095)Cct>Tct p.P1365S AX747113_uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 1365 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TGCTGTTTAGGAAACTTGAGA 0.438000 64 88 0 0 0.000781405 0 0 CYFIP2 26999 broad.mit.edu 37 5 156760402 156760402 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:156760402C>T uc021ygm.1 + 20 2468 c.2330C>T c.(2329-2331)tCc>tTc p.S777F CYFIP2_uc011ddn.2_Missense_Mutation_p.S752F|CYFIP2_uc011ddo.2_Missense_Mutation_p.S582F|CYFIP2_uc021ygn.1_Missense_Mutation_p.S777F|CYFIP2_uc021ygo.1_Missense_Mutation_p.S777F|CYFIP2_uc003lwt.3_Missense_Mutation_p.S681F|CYFIP2_uc011ddp.2_Missense_Mutation_p.S512F NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA. 803 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATGTATAAATCCTTGGACCAA 0.473000 295 141 0 0 0.000781405 0 0 MYH4 4622 broad.mit.edu 37 17 10358326 10358326 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:10358326G>A uc002gmn.3 - 20 2478 c.2367C>T c.(2365-2367)atC>atT p.I789I AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 789 IQ. 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 GAGTGCGCGTGATGAGTTGAG 0.458000 29 22 0 0 0.00229938 0 0 HELQ 113510 broad.mit.edu 37 4 84352866 84352866 + Missense_Mutation SNP T G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:84352866T>G uc003hom.3 - 10 2425 c.2246A>C c.(2245-2247)gAa>gCa p.E749A HELQ_uc010ikb.3_Missense_Mutation_p.E682A|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN Homo sapiens helicase, POLQ-like (HELQ), mRNA. 749 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 CTTGGTGAATTCCTGAACAAG 0.303000 Other identified genes with known or suspected DNA repair function 42 13 0 0 0.00074312 0 0 DNAH7 56171 broad.mit.edu 37 2 196681528 196681528 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:196681528C>T uc002utj.4 - 50 9686 c.9585G>A c.(9583-9585)aaG>aaA p.K3195K NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 3195 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.K3195N(2) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TGGTGTCAATCTTTTTCTCTG 0.418000 57 47 0 0 0.000781405 0 0 ZNF638 27332 broad.mit.edu 37 2 71655768 71655768 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:71655768C>T uc002shx.3 + 24 5960 c.5637C>T c.(5635-5637)ttC>ttT p.F1879F ZNF638_uc002shz.3_Silent_p.F1879F|ZNF638_uc002shy.3_Silent_p.F1879F|ZNF638_uc002sia.3_Silent_p.F1879F|ZNF638_uc002sic.3_Silent_p.F976F|ZNF638_uc002sid.3_Silent_p.F248F NM_014497 NP_055312 Q14966 ZN638_HUMAN Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA. 1879 RNA splicing cytoplasm|nuclear speck RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 AAGAGGCCTTCCAGATGAGTG 0.388000 105 43 0 0 0.00195071 0 0 TKTL2 84076 broad.mit.edu 37 4 164394221 164394221 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:164394221C>T uc003iqp.4 - 0 827 c.666G>A c.(664-666)gtG>gtA p.V222V NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN Homo sapiens transketolase-like 2 (TKTL2), mRNA. 222 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) ACAAGGCCTCCACATCATGGC 0.483000 68 35 0 0 0.00111076 0 0 AFP 174 broad.mit.edu 37 4 74303947 74303947 + Missense_Mutation SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:74303947A>T uc003hgz.1 + 2 241 c.194A>T c.(193-195)aAa>aTa p.K65I NM_001134 NP_001125 P02771 FETA_HUMAN Homo sapiens alpha-fetoprotein (AFP), mRNA. 65 Albumin 1. transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GAAGTAAGCAAAATGGTGAAA 0.393000 Alpha-Fetoprotein, Hereditary Persistence of 29 16 0 0 0.000422831 0 0 PCK1 5105 broad.mit.edu 37 20 56137137 56137137 + Missense_Mutation SNP C G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:56137137C>G uc002xyn.4 + 2 398 c.235C>G c.(235-237)Ctc>Gtc p.L79V PCK1_uc010zzm.2_Intron NM_002591 NP_002582 P35558 PCKGC_HUMAN Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA. 79 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CTGGTTGGCTCTCACTGACCC 0.557000 16 33 0 0 0.00283554 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146818223 146818223 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:146818223G>A uc003weu.2 + 5 1423 c.907G>A c.(907-909)Gga>Aga p.G303R NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 303 Laminin G-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CCGTACCAATGGAGAGTTTGA 0.473000 HNSCC(39;0.1) 71 15 0 0 0.000566183 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52902464 52902464 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:52902464C>T uc001cty.2 - 25 4378 c.4125G>A c.(4123-4125)gaG>gaA p.E1375E ZCCHC11_uc001ctx.2_Silent_p.E1374E NM_001009881 NP_001009881 Q5TAX3 TUT4_HUMAN Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA. 1374 RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance cytoplasm|nucleolus RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 CCAGCTTGACCTCTGGGCACT 0.488000 186 153 0 0 0.000781405 0 0 GALNTL6 442117 broad.mit.edu 37 4 173730571 173730571 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:173730571C>T uc003isv.3 + 5 1349 c.613C>T c.(613-615)Cgc>Tgc p.R205C NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA. 205 Catalytic subdomain A. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 GAGGATTGTTCGCACCAAGAA 0.478000 36 12 0 0 0.000422831 0 0 RIMS2 9699 broad.mit.edu 37 8 105260975 105260975 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:105260975G>A uc003yls.3 + 24 3818 c.3577G>A c.(3577-3579)Gat>Aat p.D1193N RIMS2_uc003ylp.3_Missense_Mutation_p.D1175N|RIMS2_uc003ylw.2_Missense_Mutation_p.D1182N|RIMS2_uc003ylq.3_Missense_Mutation_p.D989N|RIMS2_uc003ylr.3_Missense_Mutation_p.D1014N NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA. 1237 intracellular protein transport cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CCAGTTCAGTGATTTCCTGGA 0.458000 HNSCC(12;0.0054) 73 17 0 0 0.00278032 0 0 PDCD11 22984 broad.mit.edu 37 10 105174058 105174058 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:105174058C>T uc001kwy.1 + 10 1429 c.1342C>T c.(1342-1344)Cat>Tat p.H448Y NM_014976 NP_055791 Q14690 RRP5_HUMAN Homo sapiens programmed cell death 11 (PDCD11), mRNA. 448 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CCTTAGATATCATGACATCGA 0.438000 15 8 0 0 0.000442599 0 0 COL13A1 1305 broad.mit.edu 37 10 71690233 71690233 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:71690233G>A uc001jql.3 + 28 2111 c.1575G>A c.(1573-1575)gtG>gtA p.V525V COL13A1_uc021prz.1_Silent_p.V503V|COL13A1_uc021psa.1_Silent_p.V468V|COL13A1_uc021psb.1_Silent_p.V474V|COL13A1_uc001jqk.2_Silent_p.V503V|COL13A1_uc021psc.1_Silent_p.V506V|COL13A1_uc021psd.1_Silent_p.V503V|COL13A1_uc010qjf.2_Silent_p.V468V|COL13A1_uc021pse.1_Silent_p.V474V|COL13A1_uc021psf.1_Silent_p.V525V|COL13A1_uc021psg.1_Silent_p.V503V|COL13A1_uc021psh.1_Silent_p.V506V NM_001130103 NP_001123575 Q5TAT6 CODA1_HUMAN Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA. 525 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) CTCCAGGAGTGAAGGGAGAAA 0.602000 6 13 0 0 0.00136819 0 0 F8 2157 broad.mit.edu 37 X 154175986 154175986 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:154175986C>T uc004fmt.3 - 12 2271 c.2100G>A c.(2098-2100)tcG>tcA p.S700S NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 700 F5/8 type A 2.|Plastocyanin-like 4. 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 p.S700L(1) 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) GGTTTTCCATCGACATGAAGA 0.413000 52 40 0 0 0.000781405 0 0 ALKBH2 121642 broad.mit.edu 37 12 109527987 109527987 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:109527987G>A uc001tnx.2 - 2 699 c.306C>T c.(304-306)ttC>ttT p.F102F ALKBH2_uc001tny.2_Silent_p.F102F|ALKBH2_uc010sxj.1_Silent_p.F102F|ALKBH2_uc009zvd.2_Intron|ALKBH2_uc010sxk.1_Intron NM_001145374 NP_001138847 Q6NS38 ALKB2_HUMAN Homo sapiens alkB, alkylation repair homolog 2 (E. coli) (ALKBH2), transcript variant 1, mRNA. 102 Substrate binding. DNA dealkylation involved in DNA repair|oxidative DNA demethylation nucleoplasm DNA-N1-methyladenine dioxygenase activity|cytosine C-5 DNA demethylase activity|damaged DNA binding|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(3)|large_intestine(1)|lung(3) 8 Vitamin C(DB00126) GCCACTTCCCGAATACCTGGA 0.582000 Direct reversal of damage 20 30 0 0 0.0024448 0 0 DDX41 51428 broad.mit.edu 37 5 176941768 176941768 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:176941768G>A uc003mho.3 - 8 890 c.869C>T c.(868-870)cCa>cTa p.P290L DDX41_uc003mhn.3_Missense_Mutation_p.P159L|DDX41_uc003mhp.3_Missense_Mutation_p.P159L|DDX41_uc003mhq.1_Missense_Mutation_p.P70L NM_016222 NP_057306 Q9UJV9 DDX41_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA. 290 Helicase ATP-binding. apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|RNA binding|protein binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) GCGCAGGAGTGGTGAGCTGTC 0.657000 68 41 0 0 0.00222228 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74907720 74907720 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:74907720G>A uc001owb.3 + 9 1990 c.1595G>A c.(1594-1596)aGc>aAc p.S532N SLCO2B1_uc010rrq.2_Missense_Mutation_p.S277N|SLCO2B1_uc010rrr.2_Missense_Mutation_p.S388N|SLCO2B1_uc010rrs.2_Missense_Mutation_p.S416N|SLCO2B1_uc001owc.3_Missense_Mutation_p.S305N|SLCO2B1_uc001owd.3_Missense_Mutation_p.S510N NM_007256 NP_001138683 O94956 SO2B1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA. 532 Kazal-like. sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) CTGGACAACAGCCAGGTGAGT 0.602000 14 8 0 0 0.000157383 0 0 LGR5 8549 broad.mit.edu 37 12 71946912 71946912 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:71946912C>T uc001swl.3 + 4 536 c.488C>T c.(487-489)tCc>tTc p.S163F LGR5_uc001swm.3_Missense_Mutation_p.S163F|LGR5_uc021rar.1_Intron|LGR5_uc001swn.1_Non-coding_Transcript NM_003667 NP_003658 O75473 LGR5_HUMAN Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA. 163 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 GGCCTGCATTCCCTGAGGCAC 0.507000 228 93 0 0 0.000781405 0 0 EEF2K 29904 broad.mit.edu 37 16 22255972 22255972 + Nonsense_Mutation SNP C T T rs137985480 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:22255972C>T uc002dki.3 + 2 753 c.268C>T c.(268-270)Cag>Tag p.Q90* EEF2K_uc002dkh.3_Non-coding_Transcript NM_013302 NP_037434 O00418 EF2K_HUMAN Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA. 90 insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) GCACGCAATCCAGAAGGCCAA 0.597000 20 20 0 0 0.00229938 0 0 AFF2 2334 broad.mit.edu 37 X 148038032 148038032 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:148038032C>T uc004fcp.3 + 10 2936 c.2457C>T c.(2455-2457)ctC>ctT p.L819L AFF2_uc004fcq.3_Silent_p.L809L|AFF2_uc004fcr.3_Silent_p.L780L|AFF2_uc011mxb.2_Silent_p.L784L|AFF2_uc004fcs.3_Silent_p.L786L|AFF2_uc011mxc.2_Silent_p.L460L NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 819 RNA splicing|brain development|mRNA processing|regulation of RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) ACAGCTCACTCCATGCAGCAC 0.532000 40 33 0 0 0.00283554 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85521762 85521762 + Missense_Mutation SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:85521762A>T uc001tac.3 + 17 4271 c.4160A>T c.(4159-4161)aAt>aTt p.N1387I NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA. 1387 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) AAAAGAGAAAATATTGTGAAT 0.348000 45 56 0 0 0.000781405 0 0 SARDH 1757 broad.mit.edu 37 9 136599167 136599167 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:136599167C>T uc004cep.4 - 1 263 c.129G>A c.(127-129)caG>caA p.Q43Q SARDH_uc004ceo.3_Silent_p.Q43Q|SARDH_uc011mdo.2_Intron|SARDH_uc011mdn.2_Silent_p.Q43Q NM_001134707 NP_009032 Q9UL12 SARDH_HUMAN Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 43 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) TCAGGGTCCGCTGATATGGCA 0.687000 49 11 0 0 0.00136819 0 0 KCNH1 3756 broad.mit.edu 37 1 210970967 210970967 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:210970967C>T uc001hib.2 - 8 1968 c.1798G>A c.(1798-1800)Gtg>Atg p.V600M KCNH1_uc001hic.2_Missense_Mutation_p.V573M NM_172362 NP_758872 O95259 KCNH1_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA. 600 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity p.T599M(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) GCACAGTGCACCGTCTGGAAC 0.607000 78 15 0 0 0.00244969 0 0 CC2D1A 54862 broad.mit.edu 37 19 14037683 14037683 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:14037683C>T uc002mxo.2 + 19 2422 c.2123C>T c.(2122-2124)cCt>cTt p.P708L CC2D1A_uc002mxp.2_Missense_Mutation_p.P708L|CC2D1A_uc010dzh.2_Missense_Mutation_p.P277L|CC2D1A_uc002mxq.1_Missense_Mutation_p.P353L NM_017721 NP_060191 Q6P1N0 C2D1A_HUMAN Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA. 708 C2. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) ACAGACTCCCCTGGTGAGCCT 0.562000 48 18 0 0 0.00152264 0 0 PARP8 79668 broad.mit.edu 37 5 50056193 50056193 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:50056193G>A uc003jon.4 + 5 524 c.342G>A c.(340-342)ggG>ggA p.G114G PARP8_uc011cpz.2_Intron|PARP8_uc003joo.3_Silent_p.G114G|PARP8_uc003jop.3_Silent_p.G114G NM_001178055 NP_078891 Q8N3A8 PARP8_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA. 114 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) AGGAAAATGGGGAGGTATGTA 0.229000 12 7 0 0 0.000157383 0 0 PRSS1 5644 broad.mit.edu 37 7 142460770 142460771 + Missense_Mutation DNP TC GT GT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:142460770_142460771TC>GT uc003wak.2 + 4 660_661 c.643_644TC>GT c.(643-645)tcc>GTc p.S215V TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.S155V NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 215 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) AGGAGTTGTCTCCTGGGGTGAT 0.500000 100 19 0 0 6.4e-05 0 0 NUDT14 256281 broad.mit.edu 37 14 105639473 105639473 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:105639473G>A uc010tyn.2 - 4 668 c.554C>T c.(553-555)cCc>cTc p.P185L NUDT14_uc001yqi.3_Non-coding_Transcript NM_177533 NP_803877 O95848 NUD14_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 14 (NUDT14), mRNA. 185 Nudix hydrolase. cytoplasm UDP-sugar diphosphatase activity|metal ion binding|protein binding cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 14 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) GCCTTCCAGGGGCAGGTGCAC 0.627000 HNSCC(42;0.11) 39 6 0 0 0.00198382 0 0 BBS12 166379 broad.mit.edu 37 4 123663614 123663614 + Silent SNP T G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:123663614T>G uc021xrm.1 + 2 948 c.567T>G c.(565-567)ctT>ctG p.L189L BBS12_uc003ieu.3_Silent_p.L189L|BBS12_uc021xrn.1_Silent_p.L189L NM_001178007 NP_689831 Q6ZW61 BBS12_HUMAN Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA. 189 cellular protein metabolic process cilium ATP binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4) 21 TTTCCAACCTTTCTGGGAGAC 0.403000 Bardet-Biedl syndrome 49 22 0 0 0.00229938 0 0 OR10K1 391109 broad.mit.edu 37 1 158435611 158435611 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:158435611C>T uc010pij.2 + 0 260 c.260C>T c.(259-261)tCc>tTc p.S87F NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA. 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) GACCTGCTGTCCCAGAAGAAG 0.488000 139 27 0 0 0.00127121 0 0 PARP8 79668 broad.mit.edu 37 5 50091143 50091143 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:50091143C>T uc003jon.4 + 12 1502 c.1320C>T c.(1318-1320)tcC>tcT p.S440S PARP8_uc011cpz.2_Silent_p.S332S|PARP8_uc003joo.3_Silent_p.S440S|PARP8_uc003jop.3_Silent_p.S440S NM_001178055 NP_078891 Q8N3A8 PARP8_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA. 440 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) CCAAGTCATCCAAAACTGAGC 0.438000 19 27 0 0 0.00127121 0 0 TRIM55 84675 broad.mit.edu 37 8 67062607 67062607 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:67062607G>A uc003xvv.3 + 6 1117 c.891G>A c.(889-891)atG>atA p.M297I TRIM55_uc003xvu.3_Missense_Mutation_p.M297I|TRIM55_uc003xvw.3_Missense_Mutation_p.M297I|TRIM55_uc003xvx.3_Intron NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA. 297 COS. cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) CATTTCAGATGGAGAAAATAG 0.378000 31 18 0 0 0.000958276 0 0 LILRB2 10288 broad.mit.edu 37 19 54782143 54782143 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:54782143G>A uc002qfb.3 - 6 1495 c.1229C>T c.(1228-1230)cCc>cTc p.P410L LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.P410L|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.P410L|LILRB2_uc010yet.2_Missense_Mutation_p.P294L|LILRB2_uc010yeu.1_Non-coding_Transcript NM_005874 NP_005865 Q8N423 LIRB2_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA. 410 Ig-like C2-type 4. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.P410P(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGCTCACTGGGGTGAGACAG 0.637000 62 21 0 0 0.00152264 0 0 XIST 7503 broad.mit.edu 37 X 73072305 73072305 + RNA SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:73072305C>T uc004ebm.1 - 0 c.284G>A Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA. AGAAAAATTCCTTAAATATTA 0.308000 0 9 0 0 0.000673444 0 0 TTN 7273 broad.mit.edu 37 2 179648929 179648929 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179648929G>A uc021vsy.1 - 15 2868 c.2643C>T c.(2641-2643)ttC>ttT p.F881F TTN_uc021vsz.1_Silent_p.F835F|TTN_uc021vta.1_Silent_p.F835F|TTN_uc021vtb.1_Silent_p.F835F|TTN_uc002unb.2_Silent_p.F881F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 881 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.F835L(3)|p.F881L(3) 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) CAGCGAAGGGGAACTGTGGCA 0.537000 52 13 0 0 0.00185496 0 0 SETBP1 26040 broad.mit.edu 37 18 42532125 42532125 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:42532125G>A uc010dni.3 + 3 3116 c.2820G>A c.(2818-2820)agG>agA p.R940R NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA. 940 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) AGCACAAGAGGAAACGGAAAA 0.527000 Schinzel-Giedion syndrome 62 22 0 0 0.00229938 0 0 TBX5 6910 broad.mit.edu 37 12 114836398 114836398 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:114836398G>A uc001tvo.3 - 4 985 c.490C>T c.(490-492)Cac>Tac p.H164Y TBX5_uc001tvp.3_Missense_Mutation_p.H164Y|TBX5_uc001tvq.3_Missense_Mutation_p.H114Y|TBX5_uc010syv.2_Missense_Mutation_p.H164Y NM_181486 NP_542448 Q99593 TBX5_HUMAN Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA. 164 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) GGGTCCAGGTGGTTGTTGGTG 0.602000 17 8 0 0 0.000274275 0 0 TESK2 10420 broad.mit.edu 37 1 45820995 45820995 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:45820995G>A uc001cns.1 - 4 923 c.520C>T c.(520-522)Cat>Tat p.H174Y TESK2_uc009vxr.1_Missense_Mutation_p.H174Y|TESK2_uc010olo.1_Missense_Mutation_p.H91Y|TESK2_uc009vxs.1_5'UTR NM_007170 NP_009101 Q96S53 TESK2_HUMAN Homo sapiens testis-specific kinase 2 (TESK2), mRNA. 174 Protein kinase. actin cytoskeleton organization|focal adhesion assembly|spermatogenesis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 32 Acute lymphoblastic leukemia(166;0.155) AGGTCCCGATGAAAAATGCCT 0.443000 35 11 0 0 0.000978159 0 0 SLC2A7 155184 broad.mit.edu 37 1 9083116 9083116 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:9083116C>T uc009vmo.1 - 2 172 c.172G>A c.(172-174)Gaa>Aaa p.E58K NM_207420 NP_997303 Q6PXP3 GTR7_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA. 58 integral to membrane|plasma membrane sugar transmembrane transporter activity p.E58K(4)|p.N57N(1) NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2) 24 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) AAGTAGGTTTCGTTGTAAAAT 0.483000 93 70 0 0 0.000781405 0 0 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45258223 45258223 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:45258223G>A uc003bfd.3 + 16 1957 c.1680G>A c.(1678-1680)ttG>ttA p.L560L PRR5-ARHGAP8_uc011aqi.2_Silent_p.L472L|PRR5-ARHGAP8_uc011aqj.2_Silent_p.L403L|PRR5-ARHGAP8_uc010gzv.3_3'UTR|PRR5-ARHGAP8_uc003bfj.3_Silent_p.L381L|PRR5-ARHGAP8_uc003bfk.3_Silent_p.L350L|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript NM_181335 NP_851852 Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA. breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8) 30 GGCTGAATTTGATCTGGCCAT 0.522000 33 67 0 0 0.000781405 0 0 CHRNB3 1142 broad.mit.edu 37 8 42586888 42586888 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:42586888C>T uc003xpi.1 + 4 566 c.438C>T c.(436-438)ccC>ccT p.P146P NM_000749 NP_000740 Q05901 ACHB3_HUMAN Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA. 146 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) GGACCCCTCCCGCCAGCTACA 0.532000 17 18 0 0 0.00121646 0 0 PCDP1 200373 broad.mit.edu 37 2 120369265 120369265 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:120369265C>T uc002tmb.3 + 13 1512 c.400C>T c.(400-402)Cag>Tag p.Q134* PCDP1_uc010yyq.2_Nonsense_Mutation_p.Q264* NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA. 420 cilium calmodulin binding Colorectal(110;0.196) TGAGGAATTTCAGCGACTTAA 0.333000 58 12 0 0 0.00244969 0 0 CTNND2 1501 broad.mit.edu 37 5 11159724 11159724 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:11159724G>A uc003jfa.1 - 11 2268 c.2123C>T c.(2122-2124)tCa>tTa p.S708L CTNND2_uc010itt.2_Missense_Mutation_p.S617L|CTNND2_uc011cmy.1_Missense_Mutation_p.S371L|CTNND2_uc011cmz.1_Missense_Mutation_p.S275L|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.S275L NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 708 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CACCTGTGATGAATGCAGCTG 0.557000 33 48 0 0 0.000781405 0 0 KRT5 3852 broad.mit.edu 37 12 52913943 52913943 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:52913943G>A uc001san.3 - 0 301 c.138C>T c.(136-138)ttC>ttT p.F46F KRT5_uc009zmh.3_Silent_p.F46F NM_000424 NP_000415 P13647 K2C5_HUMAN Homo sapiens keratin 5 (KRT5), mRNA. 46 Gly-rich.|Head. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton p.F46F(2) endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) TGACCCTGCCGAAGCCACCAC 0.652000 27 15 0 0 0.000308642 0 0 LGR6 59352 broad.mit.edu 37 1 202287144 202287144 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:202287144C>T uc001gxu.3 + 17 1713 c.1713C>T c.(1711-1713)atC>atT p.I571I LGR6_uc001gxv.3_Silent_p.I519I|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.I432I NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA. 571 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 TGTGGGCCATCGTGTTGCTCT 0.612000 132 25 0 0 0.000586117 0 0 C11orf82 220042 broad.mit.edu 37 11 82625887 82625887 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:82625887C>T uc001ozt.3 + 2 351 c.107C>T c.(106-108)tCc>tTc p.S36F C11orf82_uc010rsr.2_5'UTR|C11orf82_uc010rss.2_5'UTR|C11orf82_uc009yvd.2_Missense_Mutation_p.S36F NM_145018 NP_659455 Q8IXT1 NOXIN_HUMAN Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA. 36 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 ATCCTGGTCTCCAAAAGGTAA 0.388000 13 8 0 0 0.000274275 0 0 ASIC3 9311 broad.mit.edu 37 7 150749682 150749682 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:150749682C>T uc003wio.2 + 10 1927 c.1559C>T c.(1558-1560)cCg>cTg p.P520L ASIC3_uc003win.2_Silent_p.A513A|ASIC3_uc003wip.2_Missense_Mutation_p.R494C|ASIC3_uc003wiq.2_Non-coding_Transcript NM_020321 NP_064717 Q9UHC3 ACCN3_HUMAN Homo sapiens amiloride-sensitive cation channel 3 (ACCN3), transcript variant 2, mRNA. 508 sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity CTCCCTGTGCCGTCACCAAGA 0.632000 64 30 0 0 0.00127121 0 0 MUC16 94025 broad.mit.edu 37 19 9074153 9074153 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9074153G>A uc002mkp.3 - 2 13497 c.13293C>T c.(13291-13293)ctC>ctT p.L4431L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4433 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 CTTTGCTTATGAGAGTGGTCT 0.488000 104 26 0 0 0.000720815 0 0 DNAH5 1767 broad.mit.edu 37 5 13759068 13759068 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:13759068G>A uc003jfd.2 - 60 10348 c.10306C>T c.(10306-10308)Cgc>Tgc p.R3436C DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3436 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGGAGATGGCGATTCTCTTGC 0.547000 Kartagener syndrome 92 36 0 0 0.00170553 0 0 TYK2 7297 broad.mit.edu 37 19 10467345 10467345 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:10467345G>A uc002moc.4 - 17 2894 c.2516C>T c.(2515-2517)cCa>cTa p.P839L TYK2_uc010dxe.3_Missense_Mutation_p.P654L NM_003331 NP_003322 P29597 TYK2_HUMAN Homo sapiens tyrosine kinase 2 (TYK2), mRNA. 839 Protein kinase 1. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) GGCCAGCTGTGGGCAGGAGGG 0.637000 15 4 0 0 0.000602214 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270521 1270521 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:1270521C>T uc002cks.3 + 34 6837 c.6589C>T c.(6589-6591)Cct>Tct p.P2197S CACNA1H_uc002ckt.3_Missense_Mutation_p.P2191S|CACNA1H_uc002cku.3_Missense_Mutation_p.P892S|CACNA1H_uc010brj.3_Missense_Mutation_p.P908S|CACNA1H_uc002ckv.3_Missense_Mutation_p.P886S NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 2197 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GGTGGAACCCCCTGCGGAGGA 0.721000 37 13 0 0 0.000566183 0 0 OR4X1 390113 broad.mit.edu 37 11 48285953 48285953 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:48285953C>T uc010rht.2 + 0 541 c.541C>T c.(541-543)Cca>Tca p.P181S NM_001004726 NP_001004726 Q8NH49 OR4X1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA. 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 TGATGTCCACCCAGTGCTGGA 0.567000 15 8 0 0 0.000673444 0 0 REPS2 9185 broad.mit.edu 37 X 17065603 17065603 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:17065603C>T uc004cxv.1 + 5 1076 c.905C>T c.(904-906)tCa>tTa p.S302L REPS2_uc004cxw.1_Missense_Mutation_p.S301L|REPS2_uc011miw.1_Missense_Mutation_p.S161L NM_004726 NP_004717 Q8NFH8 REPS2_HUMAN Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA. 302 EH 2. epidermal growth factor receptor signaling pathway|protein complex assembly cytoplasm calcium ion binding|protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1) 17 Hepatocellular(33;0.183) TCTTTCATTTCAGGTAAGAAT 0.483000 3 65 0 0 0.000781405 0 0 ANKRD12 23253 broad.mit.edu 37 18 9255124 9255124 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:9255124C>T uc002knv.3 + 8 2123 c.1859C>T c.(1858-1860)tCa>tTa p.S620L ANKRD12_uc002knw.3_Missense_Mutation_p.S597L|ANKRD12_uc002knx.3_Missense_Mutation_p.S597L|ANKRD12_uc010dkx.1_Missense_Mutation_p.S327L NM_015208 NP_056023 Q6UB98 ANR12_HUMAN Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA. 620 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 GGTGAAAAATCAAATGCCAAA 0.294000 76 44 0 0 0.00285205 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50413430 50413430 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:50413430G>A uc003daq.3 - 18 1775 c.1737C>T c.(1735-1737)ttC>ttT p.F579F CACNA2D2_uc003dap.3_Silent_p.F579F NM_001174051 NP_001167522 Q9NY47 CA2D2_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA. 579 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) CCGCATCCAGGAAGTCCAGAG 0.597000 82 23 0 0 0.00278032 0 0 GMPS 8833 broad.mit.edu 37 3 155652728 155652728 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:155652728C>T uc003faq.3 + 13 2035 c.1700C>T c.(1699-1701)cCa>cTa p.P567L GMPS_uc011bom.2_Missense_Mutation_p.P468L NM_003875 NP_003866 P49915 GUAA_HUMAN Homo sapiens guanine monphosphate synthetase (GMPS), mRNA. 567 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TTTGGCCCACCAGTTAAAGAA 0.378000 T MLL AML 44 20 0 0 0.00188189 0 0 FKBP15 23307 broad.mit.edu 37 9 115946644 115946644 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:115946644G>A uc004bgs.2 - 16 1797 c.1644C>T c.(1642-1644)tcC>tcT p.S548S FKBP15_uc010muu.1_Silent_p.S612S|FKBP15_uc004bgr.2_5'UTR|FKBP15_uc011lxc.1_Silent_p.S129S|FKBP15_uc011lxd.1_Silent_p.S480S|FKBP15_uc010mut.1_Silent_p.S416S NM_015258 NP_056073 Q5T1M5 FKB15_HUMAN Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA. 548 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 GAATAAGCATGGAATTGCCAG 0.373000 12 9 0 0 0.000274275 0 0 FAM46D 169966 broad.mit.edu 37 X 79698282 79698282 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:79698282G>A uc022bzm.1 + 0 244 c.244G>A c.(244-246)Gat>Aat p.D82N FAM46D_uc004edl.1_Missense_Mutation_p.D82N|FAM46D_uc004edm.2_Missense_Mutation_p.D82N NM_152630 NP_689843 Q8NEK8 FA46D_HUMAN Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA. 82 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 CAGCTATAAGGATCTGGACGT 0.383000 10 5 0 0 0.00116845 0 0 TMPRSS4 56649 broad.mit.edu 37 11 117969729 117969729 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:117969729C>T uc021qrd.1 + 2 364 c.73C>T c.(73-75)Ccc>Tcc p.P25S TMPRSS4_uc009yzu.3_Non-coding_Transcript|TMPRSS4_uc021qre.1_Missense_Mutation_p.P25S|TMPRSS4_uc010rxo.2_Missense_Mutation_p.P23S|TMPRSS4_uc010rxs.2_Intron|TMPRSS4_uc010rxq.2_5'UTR|TMPRSS4_uc010rxr.2_5'UTR|TMPRSS4_uc010rxt.2_5'UTR NM_019894 NP_063947 Q9NRS4 TMPS4_HUMAN Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA. 25 proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) ACCCCGTATCCCCATGGAGAC 0.537000 24 22 0 0 0.00278032 0 0 abParts 0 broad.mit.edu 37 14 106405795 106405795 + RNA SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:106405795C>T uc021ser.1 - 3033 c.49997G>A Parts of antibodies, mostly variable regions. TGGGGACTGCCTGATCCAGTT 0.527000 95 25 0 0 0.000878237 0 0 C17orf78 284099 broad.mit.edu 37 17 35736299 35736299 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:35736299G>A uc002hns.3 + 2 420 c.370G>A c.(370-372)Gga>Aga p.G124R ACACA_uc002hnn.3_Intron|ACACA_uc002hno.3_Intron|ACACA_uc002hnq.2_Intron|C17orf78_uc010cva.1_Missense_Mutation_p.G124R NM_173625 NP_775896 Q8N4C9 CQ078_HUMAN Homo sapiens chromosome 17 open reading frame 78 (C17orf78), mRNA. 124 integral to membrane NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1) 6 Breast(25;0.00295)|Ovarian(249;0.15) GTTTCAGACTGGATCTCTTCT 0.483000 101 28 0 0 0.00106085 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687801 27687801 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:27687801C>T uc001itu.2 - 3 1844 c.1726G>A c.(1726-1728)Gaa>Aaa p.E576K NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN Homo sapiens patched domain containing 3 (PTCHD3), mRNA. 576 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 GTTCCATGTTCATCTGGGACA 0.383000 9 15 0 0 0.00244969 0 0 COL4A2 1284 broad.mit.edu 37 13 111090369 111090369 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:111090369G>A uc001vqx.3 + 13 1135 c.846G>A c.(844-846)ggG>ggA p.G282G NM_001846 NP_001837 P08572 CO4A2_HUMAN Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA. 282 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GCAGTGAGGGGGAACCAGGAA 0.493000 3 44 0 0 0.000781405 0 0 LRBA 987 broad.mit.edu 37 4 151356749 151356749 + Missense_Mutation SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:151356749C>A uc010ipj.3 - 46 7310 c.7066G>T c.(7066-7068)Gat>Tat p.D2356Y LRBA_uc010ipi.3_Intron|LRBA_uc003ils.4_Missense_Mutation_p.D246Y|LRBA_uc003ilt.4_Missense_Mutation_p.D1004Y|LRBA_uc003ilu.4_Missense_Mutation_p.D2345Y NM_006726 NP_006717 P50851 LRBA_HUMAN Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA. 2356 BEACH. Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) ACCTTAATATCAGAGGTATCA 0.358000 44 66 4.09171e-25 1.4997e-24 0.000781405 1 0 BC068290 0 broad.mit.edu 37 16 33784684 33784684 + Missense_Mutation SNP G A A rs79489082 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:33784684G>A uc010vgb.2 + 1 93 c.73G>A c.(73-75)Gag>Aag p.E25K SubName: Full=Uncharacterized protein; TGTGTACTACGAGCCGCTGGT 0.637000 44 5 0 0 0.00244969 0 0 AFF3 3899 broad.mit.edu 37 2 100623240 100623240 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:100623240G>A uc002taf.3 - 5 946 c.802C>T c.(802-804)Cag>Tag p.Q268* AFF3_uc002tag.3_Nonsense_Mutation_p.Q243*|AFF3_uc010fiq.1_Nonsense_Mutation_p.Q243*|AFF3_uc010yvr.1_Nonsense_Mutation_p.Q397*|AFF3_uc002tah.1_Nonsense_Mutation_p.Q268*|AFF3_uc010fir.1_Nonsense_Mutation_p.Q320* NM_001025108 NP_001020279 P51826 AFF3_HUMAN Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA. 243 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TCAGGGGCCTGATCTTGGCCG 0.577000 45 9 0 0 0.000442599 0 0 UPF2 26019 broad.mit.edu 37 10 12046533 12046533 + Silent SNP G T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:12046533G>T uc001ila.3 - 3 1974 c.1500C>A c.(1498-1500)acC>acA p.T500T UPF2_uc001ilb.3_Silent_p.T500T|UPF2_uc001ilc.3_Silent_p.T500T|UPF2_uc009xiz.2_Silent_p.T500T NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA. 500 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm RNA binding|identical protein binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) ATTTACCTTTGGTATCATCTT 0.269000 191 9 0.000274275 0.000995949 0.000274275 1 0 GRB14 2888 broad.mit.edu 37 2 165353883 165353883 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:165353883C>T uc002ucl.3 - 10 1762 c.1221_splice c.e10+1 p.R407_splice GRB14_uc010zcv.2_Splice_Site_p.R320_splice NM_004490 NP_004481 Q14449 GRB14_HUMAN Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA. 407 blood coagulation|leukocyte migration Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 GCTACTTGTACCCTCCAAGCG 0.408000 38 46 0 0 0.000781405 0 0 PRRC2A 7916 broad.mit.edu 37 6 31594924 31594925 + Missense_Mutation DNP CC TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:31594924_31594925CC>TT uc003nvb.4 + 10 1488_1489 c.1239_1240CC>TT c.(1237-1242)ccccca>ccTTca p.P414S PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Missense_Mutation_p.P414S NM_080686 NP_542417 P48634 PRC2A_HUMAN Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA. 414 2 X type B repeats.|4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CTCCCCTACCCCCACCTCACCG 0.658000 10 7 0 0 6.4e-05 0 0 ACACB 32 broad.mit.edu 37 12 109694020 109694021 + Missense_Mutation DNP CC TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:109694020_109694021CC>TT uc001tob.3 + 44 6361_6362 c.6242_6243CC>TT c.(6241-6243)acc>aTT p.T2081I ACACB_uc001toc.3_Missense_Mutation_p.T2081I|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.T747I NM_001093 NP_001084 O00763 ACACB_HUMAN Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA. 2081 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) TGGGCGCAGACCGTGGTGACAG 0.599000 38 6 0 0 6.4e-05 0 0 DEFA4 1669 broad.mit.edu 37 8 6793604 6793604 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:6793604G>A uc003wqu.1 - 2 283 c.232C>T c.(232-234)Cgt>Tgt p.R78C NM_001925 NP_001916 P12838 DEF4_HUMAN Homo sapiens defensin, alpha 4, corticostatin (DEFA4), mRNA. 78 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 10 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) TTCCCAACACGAAGTTCTGTT 0.507000 49 37 0 0 0.00128727 0 0 ATP5F1 515 broad.mit.edu 37 1 111998710 111998710 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:111998710C>T uc009wgf.1 + 4 683 c.667C>T c.(667-669)Ccc>Tcc p.P223S ATP5F1_uc001ebc.3_Missense_Mutation_p.P76S NM_001688 NP_001679 P24539 AT5F1_HUMAN Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 (ATP5F1), nuclear gene encoding mitochondrial protein, mRNA. 76 ATP catabolic process|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 8 all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) TCTTTTAGGACCCTATGTACT 0.378000 232 26 0 0 0.001512 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48606153 48606153 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:48606153G>A uc010wmr.2 + 16 2796 c.2634G>A c.(2632-2634)ggG>ggA p.G878G MYCBPAP_uc002iqz.3_Non-coding_Transcript NM_032133 NP_115509 Q8TBZ2 MYBPP_HUMAN Homo sapiens MYCBP associated protein (MYCBPAP), mRNA. 841 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) AGCAACTGGGGATCAAAGACA 0.557000 14 24 0 0 0.000586117 0 0 ACSS3 79611 broad.mit.edu 37 12 81647101 81647101 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:81647101G>A uc001szl.1 + 13 1826 c.1735G>A c.(1735-1737)Ggt>Agt p.G579S ACSS3_uc001szm.1_Missense_Mutation_p.G578S|ACSS3_uc001szn.1_Missense_Mutation_p.G261S NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA. 579 mitochondrion ATP binding|acetate-CoA ligase activity p.G579C(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 CCTTTCCCATGGTACCGTGGC 0.363000 49 82 0 0 0.000781405 0 0 SLC38A8 146167 broad.mit.edu 37 16 84070371 84070371 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:84070371G>A uc002fhg.1 - 1 324 c.324C>T c.(322-324)ttC>ttT p.F108F NM_001080442 NP_001073911 A6NNN8 S38A8_HUMAN Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA. 108 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 GGTTGAGGAGGAAGCAGGCCT 0.627000 24 6 0 0 0.00198382 0 0 BC107108 0 broad.mit.edu 37 15 20362835 20362835 + Missense_Mutation SNP G A A rs140551116 by1000genomes TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:20362835G>A uc001yte.1 + 0 148 c.97G>A c.(97-99)Gag>Aag p.E33K RecName: Full=Putative BMS1-like protein ENSP00000383088; GGGCAACAGCGAGGGAAATGT 0.502000 35 6 0 0 0.00198382 0 0 ACACB 32 broad.mit.edu 37 12 109639469 109639470 + Missense_Mutation DNP CC TA TA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:109639469_109639470CC>TA uc001tob.3 + 18 2995_2996 c.2876_2877CC>TA c.(2875-2877)gcc>gTA p.A959V ACACB_uc001toc.3_Missense_Mutation_p.A959V NM_001093 NP_001084 O00763 ACACB_HUMAN Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA. 959 Biotinyl-binding. 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) TGCGTGGTGGCCAGGCTGGAGC 0.589000 26 34 0 0 6.4e-05 0 0 PDYN 5173 broad.mit.edu 37 20 1961157 1961157 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:1961157C>T uc010gaj.3 - 2 819 c.577G>A c.(577-579)Ggg>Agg p.G193R AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.G193R|PDYN_uc021vzt.1_Missense_Mutation_p.G193R|PDYN_uc021vzu.1_Missense_Mutation_p.G193R|PDYN_uc002wfv.3_Missense_Mutation_p.G193R NM_001190892 NP_077722 P01213 PDYN_HUMAN Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA. 193 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity p.G193R(2) endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TCCCCGTCCCCCTCCCCAGCC 0.587000 24 60 0 0 0.000781405 0 0 GP2 2813 broad.mit.edu 37 16 20335551 20335551 + Missense_Mutation SNP G A A rs140222432 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:20335551G>A uc002dgv.3 - 2 205 c.122C>T c.(121-123)tCg>tTg p.S41L GP2_uc002dgw.3_Missense_Mutation_p.S41L|GP2_uc002dgx.3_Intron|GP2_uc002dgy.3_Intron NM_001007240 NP_001007241 P55259 GP2_HUMAN Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA. 41 anchored to membrane|extracellular region|plasma membrane p.S41L(4) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CAGCCCATACGAACTGGCTTC 0.532000 36 15 0 0 0.000566183 0 0 LRP2 4036 broad.mit.edu 37 2 170099481 170099481 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:170099481C>T uc002ues.3 - 23 3865 c.3652G>A c.(3652-3654)Gat>Aat p.D1218N LRP2_uc010zdf.1_Missense_Mutation_p.D1081N NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 1218 LDL-receptor class A 12. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CCTGCTTCATCCGAGTTGTCA 0.398000 119 33 0 0 0.00283554 0 0 GPR39 2863 broad.mit.edu 37 2 133174800 133174800 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:133174800G>A uc002ttl.3 + 0 654 c.185G>A c.(184-186)gGa>gAa p.G62E NM_001508 NP_001499 O43194 GPR39_HUMAN Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA. 62 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CAGAAGAAAGGATACTTGCAG 0.517000 67 29 0 0 0.00127121 0 0 HOXD13 3239 broad.mit.edu 37 2 176958087 176958087 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:176958087G>A uc002ukf.1 + 0 556 c.469G>A c.(469-471)Gcc>Acc p.A157T NM_000523 NP_000514 P35453 HXD13_HUMAN Homo sapiens homeobox D13 (HOXD13), mRNA. 157 skeletal system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678) ATCGCCGCACGCCTCGCTGGG 0.642000 T NUP98 AML* 41 9 0 0 0.000442599 0 0 LATS2 26524 broad.mit.edu 37 13 21562189 21562189 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:21562189G>A uc009zzs.3 - 3 2095 c.1730C>T c.(1729-1731)cCc>cTc p.P577L LATS2_uc001unr.4_Missense_Mutation_p.P577L NM_014572 NP_055387 Q9NRM7 LATS2_HUMAN Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA. 577 G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.P577P(1) breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) GACGGGAACGGGAGAGGTCTG 0.572000 52 53 0 0 0.000781405 0 0 PPFIA2 8499 broad.mit.edu 37 12 81747075 81747075 + Missense_Mutation SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:81747075A>C uc001szo.2 - 16 1978 c.1817T>G c.(1816-1818)aTt>aGt p.I606S PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.I532S|PPFIA2_uc021rbh.1_Missense_Mutation_p.I507S|PPFIA2_uc021rbi.1_Missense_Mutation_p.I606S|PPFIA2_uc021rbj.1_Missense_Mutation_p.I606S|PPFIA2_uc021rbk.1_Missense_Mutation_p.I588S|PPFIA2_uc021rbl.1_Missense_Mutation_p.I606S|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.I173S|PPFIA2_uc021rbf.1_5'UTR NM_003625 NP_003616 B7Z663 B7Z663_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA. 532 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TAGTACTCCAATCTGTTGAGT 0.363000 44 17 0 0 0.000958276 0 0 GLT25D2 23127 broad.mit.edu 37 1 183938538 183938538 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:183938538G>A uc001gqr.3 - 4 1069 c.697C>T c.(697-699)Ccc>Tcc p.P233S GLT25D2_uc010poj.1_Missense_Mutation_p.P233S|GLT25D2_uc001gqs.3_Missense_Mutation_p.P113S NM_015101 NP_055916 Q8IYK4 GT252_HUMAN Homo sapiens glycosyltransferase 25 domain containing 2 (GLT25D2), mRNA. 233 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity breast(3)|endometrium(2)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|skin(2) 31 TGGACCATGGGGACGGGGAAG 0.522000 102 22 0 0 0.00047179 0 0 FAM184A 79632 broad.mit.edu 37 6 119345183 119345183 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:119345183G>A uc003pyj.3 - 1 1303 c.955C>T c.(955-957)Ctt>Ttt p.L319F FAM184A_uc003pyk.4_Missense_Mutation_p.L199F|FAM184A_uc003pyl.4_Missense_Mutation_p.L199F NM_024581 NP_078857 Q8NB25 F184A_HUMAN Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA. 319 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 TTGTCAAGAAGACTTCCAGCT 0.348000 70 52 0 0 0.000781405 0 0 TRPV6 55503 broad.mit.edu 37 7 142575033 142575033 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:142575033C>T uc003wbx.2 - 4 579 c.350_splice c.e4-1 p.G117_splice TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA. 117 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) GCAGTCTGACCTGGCCCAGAG 0.627000 67 16 0 0 0.00074312 0 0 PTCHD2 57540 broad.mit.edu 37 1 11579867 11579867 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:11579867C>T uc001ash.4 + 8 2268 c.2130C>T c.(2128-2130)atC>atT p.I710I PTCHD2_uc001asi.1_Silent_p.I710I NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN Homo sapiens patched domain containing 2 (PTCHD2), mRNA. 710 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GCCATCTCATCGTGCAGCTGC 0.672000 108 29 0 0 0.001512 0 0 ECE1 1889 broad.mit.edu 37 1 21548330 21548330 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:21548330G>A uc001bek.2 - 17 2121 c.2046C>T c.(2044-2046)taC>taT p.Y682Y ECE1_uc001bem.2_Silent_p.Y666Y|ECE1_uc001bej.2_Silent_p.Y670Y|ECE1_uc001bei.2_Silent_p.Y679Y|ECE1_uc010odl.1_Intron NM_001397 NP_001388 P42892 ECE1_HUMAN Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA. 682 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) CCCAGTTCTGGTAAGCCTGGG 0.592000 189 46 0 0 0.000781405 0 0 ELAC2 60528 broad.mit.edu 37 17 12899106 12899106 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:12899106G>A uc002gnz.4 - 18 1839 c.1722C>T c.(1720-1722)caC>caT p.H574H ELAC2_uc002gnu.4_5'UTR|ELAC2_uc002gnv.4_Silent_p.H202H|ELAC2_uc002gnx.4_Silent_p.H334H|ELAC2_uc010vvo.2_Silent_p.H372H|ELAC2_uc010vvp.2_Silent_p.H555H|ELAC2_uc010vvq.2_Silent_p.H573H|ELAC2_uc010vvr.2_Silent_p.H534H NM_018127 NP_060597 Q9BQ52 RNZ2_HUMAN Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA. 574 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 CCAGCAAAGGGTGAAGCGGCT 0.552000 10 5 0 0 0.00116845 0 0 SEC23IP 11196 broad.mit.edu 37 10 121675306 121675306 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:121675306C>T uc001leu.2 + 7 1659 c.1449C>T c.(1447-1449)ttC>ttT p.F483F SEC23IP_uc010qtc.2_Silent_p.F272F NM_007190 NP_009121 Q9Y6Y8 S23IP_HUMAN Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA. 483 Golgi organization|intracellular protein transport ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|endoplasmic reticulum metal ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 36 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) GGACACATTTCAAGAAATCTT 0.398000 79 24 0 0 0.00047179 0 0 VAV3 10451 broad.mit.edu 37 1 108417609 108417609 + Missense_Mutation SNP G A A rs151122345 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:108417609G>A uc001dvk.1 - 1 289 c.235C>T c.(235-237)Ctc>Ttc p.L79F VAV3_uc010ouw.1_Missense_Mutation_p.L79F|VAV3_uc001dvl.1_5'UTR|VAV3_uc010oux.1_Missense_Mutation_p.L79F NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA. 79 CH. B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) CAGGCCGTGAGAAATGTCCTT 0.383000 26 52 0 0 0.000781405 0 0 ABLIM2 84448 broad.mit.edu 37 4 8089972 8089972 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:8089972C>T uc003gko.3 - 3 521 c.378G>A c.(376-378)ggG>ggA p.G126G ABLIM2_uc003gkm.4_Silent_p.G126G|ABLIM2_uc003gkp.3_Silent_p.G126G|ABLIM2_uc003gkq.3_Silent_p.G126G|ABLIM2_uc003gkr.3_Silent_p.G126G|ABLIM2_uc003gkj.4_Silent_p.G126G|ABLIM2_uc003gks.3_Silent_p.G126G|ABLIM2_uc011bwl.1_Silent_p.G131G NM_001130084 NP_001123556 Q6H8Q1 ABLM2_HUMAN Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA. 126 LIM zinc-binding 2. axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding p.N125N(1) NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 TGCATTCCTTCCCGTTGAAGG 0.652000 7 21 0 0 0.00047179 0 0 FRMD3 257019 broad.mit.edu 37 9 85926816 85926816 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:85926816G>A uc004ams.2 - 7 961 c.759C>T c.(757-759)atC>atT p.I253I FRMD3_uc004amr.1_Silent_p.I253I|FRMD3_uc022bja.1_Silent_p.I209I|FRMD3_uc022biz.1_Silent_p.I59I NM_174938 NP_777598 A2A2Y4 FRMD3_HUMAN Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA. 253 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 30 TTATCAAATGGATTCTCTTAT 0.393000 49 15 0 0 0.00074312 0 0 ALOX5 240 broad.mit.edu 37 10 45920485 45920485 + Missense_Mutation SNP C G G rs146711717 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:45920485C>G uc001jce.3 + 5 838 c.739C>G c.(739-741)Cgg>Ggg p.R247G ALOX5_uc009xmt.3_Missense_Mutation_p.R247G|ALOX5_uc010qfg.2_Missense_Mutation_p.R247G|ALOX5_uc021ppr.1_Missense_Mutation_p.R247G NM_000698 NP_000689 P09917 LOX5_HUMAN Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA. 247 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding p.I246L(1) breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) TGTGTTGATCCGGCGCTGCAC 0.602000 69 20 0 0 0.00188189 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140723605 140723606 + Missense_Mutation DNP CC TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140723605_140723606CC>TT uc003ljm.2 + 0 5_6 c.5_6CC>TT c.(4-6)acc>aTT p.T2I PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.T2I NM_018916 NP_061739 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA. 0 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) AAGGAAATGACCAATTGCCTGA 0.520000 OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 137 57 0 0 6.4e-05 0 0 SYNPO 11346 broad.mit.edu 37 5 150028561 150028561 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:150028561C>T uc003lsn.3 + 2 1830 c.1456C>T c.(1456-1458)Cct>Tct p.P486S SYNPO_uc021yfu.1_Missense_Mutation_p.P486S|SYNPO_uc003lso.4_Missense_Mutation_p.P242S|SYNPO_uc003lsp.3_Missense_Mutation_p.P242S|SYNPO_uc021yfv.1_Missense_Mutation_p.P242S NM_001166208 NP_001159681 Q8N3V7 SYNPO_HUMAN Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA. 486 positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2) 18 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GACGGCCAGGCCTTTTGGGAT 0.647000 40 23 0 0 0.00188189 0 0 HIVEP1 3096 broad.mit.edu 37 6 12122173 12122173 + Silent SNP C T T rs34746669 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:12122173C>T uc003nac.3 + 3 2324 c.2145C>T c.(2143-2145)acC>acT p.T715T 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. 715 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) CTCTTGTCACCACGTCAACAC 0.527000 38 9 0 0 0.000978159 0 0 DNAH5 1767 broad.mit.edu 37 5 13719030 13719030 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:13719030G>A uc003jfd.2 - 71 12502 c.12460C>T c.(12460-12462)Cca>Tca p.P4154S DNAH5_uc003jfc.2_Missense_Mutation_p.P322S NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 4154 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.P4153H(1)|p.P4153T(1)|p.P4153N(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGTCCTTGTGGAGGATCGTTG 0.448000 Kartagener syndrome 62 11 0 0 0.00185496 0 0 ATCAY 85300 broad.mit.edu 37 19 3909546 3909546 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:3909546G>A uc010xhz.2 + 7 1211 c.728G>A c.(727-729)gGt>gAt p.G243D ATCAY_uc002lyy.4_Missense_Mutation_p.G237D|ATCAY_uc010dts.3_5'UTR Q86WG3 ATCAY_HUMAN Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA. 237 CRAL-TRIO. transport protein binding breast(1)|endometrium(2)|kidney(2)|lung(2) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) TACCTGAACGGTGCCACGCCC 0.602000 29 9 0 0 0.000673444 0 0 DSG3 1830 broad.mit.edu 37 18 29039109 29039109 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:29039109C>T uc002kws.3 + 4 595 c.486C>T c.(484-486)ttC>ttT p.F162F NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 162 Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AACAAATTTTCATGGGTGAAA 0.323000 52 8 0 0 0.000442599 0 0 TPSAB1 7177 broad.mit.edu 37 16 1291234 1291234 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:1291234C>T uc002ckz.3 + 2 194 c.142C>T c.(142-144)Ctg>Ttg p.L48L TPSAB1_uc010uux.2_5'UTR NM_003294 NP_003285 P20231 TRYB2_HUMAN Homo sapiens tryptase alpha/beta 1 (TPSAB1), mRNA. 48 Peptidase S1. proteolysis extracellular region protein binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1) 10 Hepatocellular(780;0.00369) GCAGGTGAGCCTGAGAGTCCA 0.697000 46 18 0 0 0.00121646 0 0 UNC45B 146862 broad.mit.edu 37 17 33503017 33503017 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:33503017G>A uc002hja.3 + 14 2092 c.1995G>A c.(1993-1995)aaG>aaA p.K665K UNC45B_uc002hjb.3_Silent_p.K663K|UNC45B_uc002hjc.3_Silent_p.K663K|UNC45B_uc010cto.3_Silent_p.K584K NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA. 665 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) ACAACCCAAAGGACCGAGGCA 0.547000 75 31 0 0 0.00283554 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140751143 140751143 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140751143C>T uc003ljw.2 + 0 1182 c.1182C>T c.(1180-1182)atC>atT p.I394I 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.I394I|PCDHGC5_uc011dau.2_5'Flank NM_018924 NP_061747 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA. 397 Cadherin 4. 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) CCTTTAAAATCGTTCAAGATA 0.453000 30 12 0 0 0.00136819 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161163089 161163089 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:161163089G>A uc001fyt.4 - 6 2253 c.1825C>T c.(1825-1827)Cgc>Tgc p.R609C NM_005099 NP_005090 O75173 ATS4_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA. 609 Cys-rich. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CCTGTGTAGCGAGGAACCCAG 0.642000 72 16 0 0 0.000566183 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156631897 156631897 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:156631897G>A uc003iov.3 + 6 1116 c.580G>A c.(580-582)Gat>Aat p.D194N GUCY1A3_uc003iou.2_Missense_Mutation_p.D194N|GUCY1A3_uc010iqc.2_Missense_Mutation_p.D194N|GUCY1A3_uc010iqd.3_Missense_Mutation_p.D193N|GUCY1A3_uc003iow.3_Missense_Mutation_p.D194N|GUCY1A3_uc003iox.3_Missense_Mutation_p.D194N|GUCY1A3_uc010iqe.3_5'UTR|GUCY1A3_uc003ioy.3_Missense_Mutation_p.D194N|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.D194N NM_000856 NP_001124157 Q02108 GCYA3_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA. 194 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity p.D194fs*2(4) central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TCTATGCCTGGATAAGGAGGA 0.453000 39 10 0 0 0.000442599 0 0 SGSM1 129049 broad.mit.edu 37 22 25294507 25294507 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:25294507C>T uc003abg.2 + 19 2913 c.2756C>T c.(2755-2757)tCc>tTc p.S919F SGSM1_uc010guu.1_Missense_Mutation_p.S864F|SGSM1_uc003abh.2_Missense_Mutation_p.S858F|SGSM1_uc003abj.2_Missense_Mutation_p.S803F|SGSM1_uc003abi.1_Missense_Mutation_p.S839F NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA. 919 Rab-GAP TBC. Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 CCTGTGTCTTCCAGCGGCGTC 0.557000 59 126 0 0 0.000781405 0 0 SEMA4A 64218 broad.mit.edu 37 1 156132739 156132739 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:156132739G>A uc001fnl.3 + 9 1167 c.988G>A c.(988-990)Gtt>Att p.V330I SEMA4A_uc009wrq.3_Missense_Mutation_p.V330I|SEMA4A_uc001fnm.3_Missense_Mutation_p.V330I|SEMA4A_uc001fnn.3_Missense_Mutation_p.V198I|SEMA4A_uc001fno.3_Missense_Mutation_p.V330I NM_001193301 NP_071762 Q9H3S1 SEM4A_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA. 330 Sema. axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) CTCCAGGCAGGTTGGCGGGAC 0.537000 62 52 0 0 0.000781405 0 0 SIK1 150094 broad.mit.edu 37 21 44837465 44837465 + Missense_Mutation SNP C T T rs34614061 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:44837465C>T uc002zdf.2 - 12 2061 c.1934G>A c.(1933-1935)cGg>cAg p.R645Q NM_173354 NP_775490 P57059 SIK1_HUMAN Homo sapiens salt-inducible kinase 1 (SIK1), mRNA. 645 anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 CCAGCCCTCCCGGCTGCCGGC 0.751000 22 7 0 0 0.00198382 0 0 PIK3CA 5290 broad.mit.edu 37 3 178947158 178947158 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:178947158G>A uc003fjk.3 + 17 2751 c.2594G>A c.(2593-2595)gGc>gAc p.G865D NM_006218 NP_006209 P42336 PK3CA_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA. 865 PI3K/PI4K. T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.G864G(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGCAAAGGCGGCTTGAAAGGT 0.423000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 14 8 0 0 0.000157383 0 0 FIGN 55137 broad.mit.edu 37 2 164467000 164467000 + Missense_Mutation SNP G A A rs2231904 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:164467000G>A uc002uck.1 - 2 1653 c.1342C>T c.(1342-1344)Cgt>Tgt p.R448C NM_018086 NP_060556 Q5HY92 FIGN_HUMAN Homo sapiens fidgetin (FIGN), mRNA. 448 R -> C (in dbSNP:rs2231904). nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 GTAGCTGCACGGAGTCCAGGG 0.532000 45 34 0 0 0.00209593 0 0 HUWE1 10075 broad.mit.edu 37 X 53622156 53622156 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:53622156G>A uc004dsp.3 - 29 3773 c.3371C>T c.(3370-3372)cCc>cTc p.P1124L HUWE1_uc004dsn.3_5'Flank NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA. 1124 P -> L (in Ref. 1 and 5). base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 CCTGAATCGGGGAGTAGGTGT 0.463000 3 50 0 0 0.000781405 0 0 COL7A1 1294 broad.mit.edu 37 3 48621382 48621382 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:48621382G>A uc003ctz.2 - 37 4230 c.4229C>T c.(4228-4230)cCc>cTc p.P1410L NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 1410 Interrupted collagenous region.|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) TGGTCCAGGGGGACCCTGGGA 0.647000 28 11 0 0 0.00136819 0 0 SCN2A 6326 broad.mit.edu 37 2 166172168 166172168 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:166172168G>A uc002udc.3 + 10 1861 c.1571G>A c.(1570-1572)cGa>cAa p.R524Q SCN2A_uc002udd.3_Missense_Mutation_p.R524Q|SCN2A_uc002ude.3_Missense_Mutation_p.R524Q NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 524 R -> Q. R -> L (in Ref. 1; AAA18895). 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) GACAGAGTCCGAAAATCGGAA 0.378000 56 20 0 0 0.00121646 0 0 FOXS1 2307 broad.mit.edu 37 20 30433274 30433274 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:30433274G>A uc002wwt.1 - 0 147 c.72C>T c.(70-72)atC>atT p.I24I NM_004118 NP_004109 O43638 FOXS1_HUMAN Homo sapiens forkhead box S1 (FOXS1), mRNA. 24 Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex DNA bending activity|chromatin DNA binding|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 kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 9 CAATAAGGGCGATGTAGCTGT 0.657000 85 31 0 0 0.000692331 0 0 OR52A1 23538 broad.mit.edu 37 11 5172912 5172912 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:5172912G>A uc010qyy.2 - 0 688 c.688C>T c.(688-690)Cgt>Tgt p.R230C NM_012375 NP_036507 Q9UKL2 O52A1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA. 230 sensory perception of smell integral to plasma membrane olfactory receptor activity p.R230H(1) breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGGGCAAACGAAAAACTGTG 0.423000 20 13 0 0 0.00185496 0 0 CCDC159 126075 broad.mit.edu 37 19 11464191 11464191 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:11464191C>T uc010xlw.1 + 8 960 c.881C>T c.(880-882)cCg>cTg p.P294L CCDC159_uc010xls.2_Missense_Mutation_p.P211L|CCDC159_uc010xlt.2_Missense_Mutation_p.P211L|LPPR2_uc002mre.2_5'Flank|LPPR2_uc002mrf.2_5'Flank NM_001080503 NP_001073972 P0C7I6 CC159_HUMAN Homo sapiens coiled-coil domain containing 159 (CCDC159), mRNA. 326 endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 5 GAAGAGATACCGCAGGGAGCC 0.567000 24 5 0 0 0.00116845 0 0 EP300 2033 broad.mit.edu 37 22 41523662 41523662 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:41523662G>A uc003azl.4 + 3 1473 c.1078G>A c.(1078-1080)Gaa>Aaa p.E360K NM_001429 NP_001420 Q09472 EP300_HUMAN Homo sapiens E1A binding protein p300 (EP300), mRNA. 360 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 GGCCAATGGGGAAGTGAGGCA 0.537000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 221 56 0 0 0.000781405 0 0 SP140 11262 broad.mit.edu 37 2 231150529 231150529 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:231150529G>A uc002vql.3 + 16 1742 c.1627G>A c.(1627-1629)Gac>Aac p.D543N SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Missense_Mutation_p.D429N|SP140_uc002vqm.3_Missense_Mutation_p.D483N|SP140_uc010fxl.3_Missense_Mutation_p.D516N NM_007237 NP_009168 Q13342 LY10_HUMAN Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA. 543 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GAATCTGAAAGACCTTTCCAA 0.453000 48 52 0 0 0.000781405 0 0 COL6A3 1293 broad.mit.edu 37 2 238272037 238272037 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:238272037G>A uc002vwl.2 - 13 6207 c.5922C>T c.(5920-5922)gtC>gtT p.V1974V COL6A3_uc002vwo.2_Silent_p.V1768V|COL6A3_uc010znj.1_Silent_p.V1367V NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 1974 Nonhelical region.|VWFA 10. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TCAAGGCACGGACTCCTGCAA 0.468000 45 24 0 0 0.00278032 0 0 KCTD19 146212 broad.mit.edu 37 16 67337157 67337157 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:67337157G>A uc002esu.2 - 3 586 c.535C>T c.(535-537)Cta>Tta p.L179L KCTD19_uc002est.2_5'UTR|KCTD19_uc010vjj.1_5'UTR NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA. 179 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) ACCAGGTCTAGGGGCAGGAAG 0.572000 30 10 0 0 0.000673444 0 0 ANO4 121601 broad.mit.edu 37 12 101295595 101295595 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:101295595G>A uc010svm.1 + 1 604 c.32G>A c.(31-33)gGa>gAa p.G11E ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.G11E|ANO4_uc001thx.2_Missense_Mutation_p.G11E NM_178826 NP_849148 Q32M45 ANO4_HUMAN Homo sapiens anoctamin 4 (ANO4), mRNA. 11 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 ATCACTAATGGAAAAACCAAA 0.493000 HNSCC(74;0.22) 26 60 0 0 0.000781405 0 0 OR9A4 130075 broad.mit.edu 37 7 141618715 141618715 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:141618715C>T uc003vwu.1 + 0 40 c.40C>T c.(40-42)Ctt>Ttt p.L14F NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA. 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) ATTTTATCTCCTTGGCTTCCC 0.378000 137 88 0 0 0.000781405 0 0 DENND1A 57706 broad.mit.edu 37 9 126214555 126214555 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:126214555G>A uc011lzm.1 - 15 1417 c.1203_splice c.e15+1 p.F401_splice DENND1A_uc011lzl.1_Splice_Site_p.F208_splice|DENND1A_uc004bny.1_Splice_Site_p.F172_splice|DENND1A_uc004bnz.1_Splice_Site_p.F433_splice|DENND1A_uc004boa.1_Splice_Site_p.F433_splice|DENND1A_uc004bob.1_Splice_Site_p.F403_splice|DENND1A_uc004boc.3_Splice_Site_p.F401_splice NM_020946 NP_065997 Q8TEH3 DEN1A_HUMAN Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA. 433 cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 CAGTACTTACGAACTTGTAGA 0.378000 87 21 0 0 0.00047179 0 0 FAM75D1 389763 broad.mit.edu 37 9 84606249 84606249 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:84606249C>T uc004amn.3 + 3 911 c.864C>T c.(862-864)ccC>ccT p.P288P NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA. 288 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 CCATGAATCCCATTGATTCTT 0.483000 311 87 0 0 0.000781405 0 0 FBLN5 10516 broad.mit.edu 37 14 92344001 92344001 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:92344001G>A uc010aue.3 - 10 1611 c.1138C>T c.(1138-1140)Cct>Tct p.P380S FBLN5_uc010aud.3_Missense_Mutation_p.P344S|FBLN5_uc001xzx.4_Missense_Mutation_p.P339S|FBLN5_uc001xzw.3_5'Flank NM_006329 NP_006320 Q9UBX5 FBLN5_HUMAN Homo sapiens fibulin 5 (FBLN5), mRNA. 339 cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 28 all_cancers(154;0.0722) CTGCAGCCAGGGTTCTCAGCA 0.537000 48 39 0 0 0.000781405 0 0 KRT23 25984 broad.mit.edu 37 17 39092815 39092815 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:39092815G>A uc002hvm.1 - 1 630 c.41C>T c.(40-42)tCc>tTc p.S14F KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.3_Missense_Mutation_p.S14F|KRT23_uc002hvn.1_Missense_Mutation_p.S14F NM_015515 NP_056330 Q9C075 K1C23_HUMAN Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA. 14 Head. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000301)|Ovarian(249;0.15) GCCATGGAAGGAGGCCGAGGG 0.687000 41 24 0 0 0.0024448 0 0 DMXL2 23312 broad.mit.edu 37 15 51839457 51839457 + Missense_Mutation SNP G A A rs143486672 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:51839457G>A uc010ufy.2 - 6 941 c.716C>T c.(715-717)tCg>tTg p.S239L DMXL2_uc002abf.3_Missense_Mutation_p.S239L|DMXL2_uc010bfa.3_Missense_Mutation_p.S239L NM_001174116 NP_001167587 Q8TDJ6 DMXL2_HUMAN Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA. 239 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TTTGCGCCACGAAAAACCTGT 0.358000 9 16 0 0 0.000308642 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42439349 42439349 + Silent SNP G A A rs144722412 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:42439349G>A uc001zoz.3 - 12 1484 c.1392C>T c.(1390-1392)ctC>ctT p.L464L PLA2G4F_uc010bcq.3_5'Flank|PLA2G4F_uc001zoy.3_Silent_p.L96L|PLA2G4F_uc001zpa.3_Silent_p.L215L|PLA2G4F_uc010bcr.3_Silent_p.L215L|PLA2G4F_uc010bcs.3_Silent_p.L251L NM_213600 NP_998765 Q68DD2 PA24F_HUMAN Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA. 464 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) ACTCAACAAGGAGGCCCCAGA 0.592000 16 5 0 0 0.00116845 0 0 FAM188B 84182 broad.mit.edu 37 7 30911861 30911861 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:30911861C>T uc003tbt.3 + 13 1826 c.1749C>T c.(1747-1749)atC>atT p.I583I FAM188B_uc010kwe.3_Silent_p.I554I|FAM188B_uc011kac.1_5'UTR|FAM188B_uc003tbu.3_Silent_p.I103I NM_032222 NP_115598 Q4G0A6 F188B_HUMAN Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA. 583 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TTTCCAGCATCCGCCAGGACT 0.592000 32 5 0 0 0.00116845 0 0 abParts 0 broad.mit.edu 37 14 106539144 106539144 + RNA SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:106539144T>C uc021ser.1 - 2082 c.38002A>G Parts of antibodies, mostly variable regions. TAGGCTGTGCTTATGGAGGTG 0.527000 50 140 0 0 0.000781405 0 0 CRISP3 10321 broad.mit.edu 37 6 49704164 49704164 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:49704164C>T uc021zai.1 - 2 286 c.198G>A c.(196-198)gtG>gtA p.V66V CRISP3_uc003ozs.3_Silent_p.V56V NM_001190986 NP_001177915 P54108 CRIS3_HUMAN Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA. 43 innate immune response proteinaceous extracellular matrix|specific granule p.V43V(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) TGTGCTTATTCACAATCTCCC 0.413000 39 31 0 0 0.00058488 0 0 GABRG3 2567 broad.mit.edu 37 15 27271920 27271920 + Missense_Mutation SNP C G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:27271920C>G uc001zbg.2 + 2 476 c.222C>G c.(220-222)gaC>gaG p.D74E GABRG3_uc001zbf.3_Missense_Mutation_p.D74E NM_033223 NP_150092 Q99928 GBRG3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA. 74 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) CCGTAATTGACGTTGACATTT 0.393000 32 9 0 0 0.000442599 0 0 FRAS1 80144 broad.mit.edu 37 4 79173594 79173594 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:79173594C>T uc003hlb.2 + 4 798 c.358C>T c.(358-360)Cat>Tat p.H120Y FRAS1_uc003hkw.3_Missense_Mutation_p.H120Y|FRAS1_uc003hky.1_5'UTR|FRAS1_uc003hkz.3_5'Flank NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 120 VWFC 2. 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 CTCTTGCAATCATGGGGAAGT 0.517000 37 17 0 0 0.000958276 0 0 DNAH5 1767 broad.mit.edu 37 5 13811764 13811764 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:13811764G>A uc003jfd.2 - 43 7441 c.7399C>T c.(7399-7401)Cct>Tct p.P2467S NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2467 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.I2466S(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ACCTTCAGAGGAATCAGGCCT 0.403000 Kartagener syndrome 20 42 0 0 0.000781405 0 0 AMOT 154796 broad.mit.edu 37 X 112022744 112022744 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:112022744G>A uc004epr.3 - 9 2656 c.2638C>T c.(2638-2640)Ccc>Tcc p.P880S AMOT_uc004eps.3_Missense_Mutation_p.P471S|AMOT_uc011mtc.1_Missense_Mutation_p.P120S NM_001113490 NP_573572 Q4VCS5 AMOT_HUMAN Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA. 880 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 acagagatgggagcaacagct 0.597000 8 9 0 0 0.000442599 0 0 ZNF415 55786 broad.mit.edu 37 19 53611784 53611784 + Missense_Mutation SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:53611784A>C uc002qax.3 - 6 2007 c.1658T>G c.(1657-1659)tTt>tGt p.F553C ZNF415_uc010yds.2_Missense_Mutation_p.F505C|ZNF415_uc010ydt.2_Missense_Mutation_p.F505C|ZNF415_uc002qau.3_Missense_Mutation_p.F492C|ZNF415_uc002qav.3_Missense_Mutation_p.F517C|ZNF415_uc002qaw.3_Missense_Mutation_p.F505C|ZNF415_uc002qay.3_Missense_Mutation_p.F492C|ZNF415_uc002qaz.3_Missense_Mutation_p.F553C|ZNF415_uc002qba.3_Missense_Mutation_p.F275C Q09FC8 ZN415_HUMAN Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA. 553 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) GCGCACACTAAAGGATTTGCC 0.433000 138 31 0 0 0.00209593 0 0 SYT15 83849 broad.mit.edu 37 10 46967500 46967500 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:46967500C>T uc001jea.3 - 3 730 c.577G>A c.(577-579)Gag>Aag p.E193K SYT15_uc001jdz.2_Missense_Mutation_p.E193K|SYT15_uc001jeb.3_Missense_Mutation_p.E71K|SYT15_uc010qfp.1_Non-coding_Transcript NM_031912 NP_114118 Q9BQS2 SYT15_HUMAN Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA. 193 C2 1. integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 AAGCGCCGCTCATCGGGCAGC 0.612000 100 15 0 0 0.000308642 0 0 WFDC8 90199 broad.mit.edu 37 20 44184469 44184469 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:44184469G>A uc002xow.3 - 3 395 c.316C>T c.(316-318)Cat>Tat p.H106Y WFDC8_uc002xox.3_Missense_Mutation_p.H106Y NM_181510 NP_852611 Q8IUA0 WFDC8_HUMAN Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA. 106 BPTI/Kunitz inhibitor. extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) TGTGCCTCATGATTACAGTTT 0.453000 65 22 0 0 0.00229938 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717390 13717390 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:13717390C>T uc001rbt.2 - 12 2961 c.2782G>A c.(2782-2784)Gag>Aag p.E928K NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 928 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding p.R927Q(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ACGGATGACTCCCGTCGGATG 0.572000 58 102 0 0 0.000781405 0 0 SLC28A1 9154 broad.mit.edu 37 15 85438184 85438184 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:85438184C>T uc002blg.3 + 5 493 c.291C>T c.(289-291)ttC>ttT p.F97F SLC28A1_uc010upd.1_Silent_p.F19F|SLC28A1_uc010bnb.3_Silent_p.F97F|SLC28A1_uc010upe.2_Silent_p.F97F|SLC28A1_uc010upf.1_Silent_p.F97F|SLC28A1_uc010upg.1_Silent_p.F97F|SLC28A1_uc002blf.3_Silent_p.F97F NM_004213 NP_004204 O00337 S28A1_HUMAN Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA. 97 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) TCTCTGCCTTCCTGCTGGTGG 0.642000 44 22 0 0 0.00229938 0 0 RASAL1 8437 broad.mit.edu 37 12 113543663 113543663 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:113543663G>A uc001tun.2 - 16 1990 c.1689C>T c.(1687-1689)ttC>ttT p.F563F RASAL1_uc010syp.2_Silent_p.F562F|RASAL1_uc001tul.3_Silent_p.F561F|RASAL1_uc001tum.2_Silent_p.F561F|RASAL1_uc010syq.2_Silent_p.F562F|RASAL1_uc001tuo.4_Silent_p.F562F NM_001193520 NP_001180449 O95294 RASL1_HUMAN Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA. 561 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|metal ion binding|phospholipid binding p.P562L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 CCGAGGGCGGGAACAGGGCCC 0.622000 60 22 0 0 0.00047179 0 0 CDH9 1007 broad.mit.edu 37 5 26915833 26915833 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:26915833G>A uc003jgs.1 - 2 597 c.428C>T c.(427-429)tCg>tTg p.S143L CDH9_uc010iug.3_Missense_Mutation_p.S143L NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA. 143 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S143S(1)|p.E142*(1) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 GATAAATTCCGATTCCGGTTC 0.398000 32 67 0 0 0.000781405 0 0 APOB 338 broad.mit.edu 37 2 21230280 21230280 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:21230280C>T uc002red.3 - 25 9588 c.9460G>A c.(9460-9462)Gaa>Aaa p.E3154K NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 3154 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CCTGTTTTTTCCCATAGAGAG 0.348000 346 93 0 0 0.000781405 0 0 SMOX 54498 broad.mit.edu 37 20 4167936 4167936 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:4167936C>T uc002wkp.2 + 7 1841 c.1640C>T c.(1639-1641)tCc>tTc p.S547F SMOX_uc010zqo.1_Missense_Mutation_p.S441F|SMOX_uc002wkk.1_Missense_Mutation_p.S494F|SMOX_uc002wkl.1_Missense_Mutation_p.S464F|SMOX_uc002wkm.1_Missense_Mutation_p.S517F|SMOX_uc002wkn.1_Missense_Mutation_p.S152F|SMOX_uc002wko.1_Missense_Mutation_p.S517F NM_175839 NP_787033 Q9NWM0 SMOX_HUMAN Homo sapiens spermine oxidase (SMOX), transcript variant 1, mRNA. 517 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) GTGCTGTTTTCCGGTGAGGCC 0.647000 22 8 0 0 0.000978159 0 0 FKBP8 23770 broad.mit.edu 37 19 18650451 18650451 + Silent SNP G T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:18650451G>T uc002njk.1 - 2 485 c.372C>A c.(370-372)acC>acA p.T124T FKBP8_uc010xqi.1_Silent_p.T153T|FKBP8_uc002njj.1_Silent_p.T124T|FKBP8_uc021uqp.1_Intron NM_012181 NP_036313 Q14318 FKBP8_HUMAN Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA. 124 PPIase FKBP-type. apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 15 GCAGATGTACGGTGACCACCT 0.652000 253 9 0.000978159 0.00354052 0.000978159 1 0 TMEM150C 441027 broad.mit.edu 37 4 83411342 83411342 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:83411342C>T uc011ccj.1 - 6 618 c.503G>A c.(502-504)gGa>gAa p.G168E TMEM150C_uc003hmy.1_Missense_Mutation_p.G138E NM_001080506 NP_001073975 B9EJG8 T150C_HUMAN Homo sapiens transmembrane protein 150C (TMEM150C), mRNA. 138 integral to membrane ovary(1) 1 TGTGCCAAATCCAAAGGTCAA 0.463000 70 111 0 0 0.000781405 0 0 DENND2D 79961 broad.mit.edu 37 1 111730783 111730783 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:111730783C>T uc001eak.1 - 10 1509 c.1309G>A c.(1309-1311)Gaa>Aaa p.E437K DENND2D_uc001eal.1_Missense_Mutation_p.E434K NM_024901 NP_079177 Q9H6A0 DEN2D_HUMAN Homo sapiens DENN/MADD domain containing 2D (DENND2D), mRNA. 437 dDENN. breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) TTCTCGGCTTCCTGGATGAAA 0.473000 102 23 0 0 0.00278032 0 0 ABCC8 6833 broad.mit.edu 37 11 17418804 17418804 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:17418804C>T uc001mnc.3 - 31 4050 c.3924G>A c.(3922-3924)ctG>ctA p.L1308L NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 1308 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) TCACAGCCCCCAGCTGGAGCT 0.612000 57 43 0 0 0.0025221 0 0 SPAG17 200162 broad.mit.edu 37 1 118624093 118624093 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:118624093C>T uc001ehk.2 - 13 2003 c.1935G>A c.(1933-1935)caG>caA p.Q645Q SPAG17_uc021oss.1_5'Flank NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 645 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GCTGCCTTATCTGTTTAGCAA 0.413000 136 30 0 0 0.00178596 0 0 PANX1 24145 broad.mit.edu 37 11 93911716 93911716 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:93911716G>A uc001per.3 + 2 888 c.503G>A c.(502-504)gGa>gAa p.G168E PANX1_uc001peq.3_Missense_Mutation_p.G168E NM_015368 NP_056183 Q96RD7 PANX1_HUMAN Homo sapiens pannexin 1 (PANX1), mRNA. 168 positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ATGAGAGATGGAGCCTGCTCA 0.473000 13 12 0 0 0.00244969 0 0 COL17A1 1308 broad.mit.edu 37 10 105800155 105800155 + Silent SNP G A A rs139467442 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:105800155G>A uc001kxr.3 - 39 2884 c.2715C>T c.(2713-2715)tcC>tcT p.S905S NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA. 905 Triple-helical region. S -> F (in Ref. 1; AAA35605 and 2; AAB51499). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding p.S905F(1) NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CTGGGGGGCCGGAGAGGAAGG 0.532000 49 40 0 0 0.0025221 0 0 MACF1 23499 broad.mit.edu 37 1 39549961 39549961 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:39549961G>A uc010oir.2 + 1 250 c.58G>A c.(58-60)Gat>Aat p.D20N MACF1_uc021ols.1_Missense_Mutation_p.R24Q|MACF1_uc001cdc.2_Missense_Mutation_p.R24Q|MACF1_uc021olt.1_Missense_Mutation_p.R24Q Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 0 Actin-binding. Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CGGAGTGAGCGATCTTACAGG 0.627000 73 20 0 0 0.00229938 0 0 SENP2 59343 broad.mit.edu 37 3 185331142 185331143 + Missense_Mutation DNP GG TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:185331142_185331143GG>TT uc003fpn.3 + 9 1050_1051 c.879_880GG>TT c.(877-882)aagggg>aaTTgg p.293_294KG>NW SENP2_uc011brv.2_Missense_Mutation_p.283_284KG>NW|SENP2_uc011brw.2_Missense_Mutation_p.106_107KG>NW NM_021627 NP_067640 Q9HC62 SENP2_HUMAN Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA. 293 Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport cytoplasm|nuclear membrane|nuclear pore SUMO-specific protease activity|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3) 12 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) GGTGTTCAAAGGGGAAAATTAC 0.317000 402 11 0 0 6.4e-05 0 0 INSRR 3645 broad.mit.edu 37 1 156824046 156824046 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:156824046C>T uc010pht.2 - 1 434 c.135G>A c.(133-135)ctG>ctA p.L45L NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Silent_p.L45L NM_014215 NP_055030 P14616 INSRR_HUMAN Homo sapiens insulin receptor-related receptor (INSRR), mRNA. 45 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGCAGTTCTCCAGCTGACGAA 0.627000 36 7 0 0 0.00198382 0 0 GIMAP2 26157 broad.mit.edu 37 7 150389992 150389992 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:150389992G>A uc003who.3 + 2 706 c.618G>A c.(616-618)ttG>ttA p.L206L NM_015660 NP_056475 Q9UG22 GIMA2_HUMAN Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA. 206 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGGATCTGTTGATGGAGAAAA 0.438000 69 14 0 0 0.000308642 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77359872 77359872 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:77359872G>A uc002ffc.4 - 12 2342 c.1923C>T c.(1921-1923)aaC>aaT p.N641N ADAMTS18_uc010chc.1_Silent_p.N229N|ADAMTS18_uc002ffe.1_Silent_p.N337N NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 641 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.N641N(2) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CATTGCAAGGGTTAATATTGC 0.393000 19 9 0 0 0.000274275 0 0 RWDD4 201965 broad.mit.edu 37 4 184572254 184572254 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:184572254G>A uc021xvb.1 - 3 472 c.246C>T c.(244-246)gcC>gcT p.A82A RWDD4_uc003ivt.1_Silent_p.A82A|RWDD4_uc011ckl.1_Non-coding_Transcript NM_152682 NP_689895 Q6NW29 RWDD4_HUMAN Homo sapiens RWD domain containing 4 (RWDD4), mRNA. 82 RWD. large_intestine(2)|lung(4)|ovary(1)|prostate(1) 8 CCTGTAGCTTGGCTAATATAC 0.368000 38 16 0 0 0.000308642 0 0 GJA1 2697 broad.mit.edu 37 6 121768817 121768817 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:121768817C>T uc003pyr.3 + 1 1074 c.824C>T c.(823-825)aCc>aTc p.T275I GJA1_uc011ebo.1_Missense_Mutation_p.T176I|GJA1_uc011ebp.1_Missense_Mutation_p.T63I|GJA1_uc021zel.1_Missense_Mutation_p.T275I NM_000165 NP_000156 P17302 CXA1_HUMAN Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA. 275 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) TCCTCACCAACCGCTCCCCTC 0.517000 33 14 0 0 0.00185496 0 0 DNAH3 55567 broad.mit.edu 37 16 20946785 20946786 + Missense_Mutation DNP GG AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:20946785_20946786GG>AA uc010vbe.2 - 60 11881_11882 c.11881_11882CC>TT c.(11881-11883)cct>TTt p.P3961F DNAH3_uc010vbd.2_Missense_Mutation_p.P1396F NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 3961 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AAATACCACAGGGGGCCCCTTG 0.416000 18 12 0 0 6.4e-05 0 0 NEBL 10529 broad.mit.edu 37 10 21115453 21115453 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:21115453C>T uc001iqi.3 - 17 2189 c.1792G>A c.(1792-1794)Gaa>Aaa p.E598K NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN Homo sapiens nebulette (NEBL), transcript variant 1, mRNA. 598 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GCTCCCACTTCTTTCTTATAA 0.358000 20 9 0 0 0.000442599 0 0 DLL4 54567 broad.mit.edu 37 15 41228588 41228589 + Missense_Mutation DNP CC TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:41228588_41228589CC>TT uc001zng.2 + 8 1739_1740 c.1403_1404CC>TT c.(1402-1404)gcc>gTT p.A468V NM_019074 NP_061947 Q9NR61 DLL4_HUMAN Homo sapiens delta-like 4 (Drosophila) (DLL4), mRNA. 468 EGF-like 7. Notch receptor processing|Notch signaling pathway|blood circulation|cell communication|cell differentiation integral to membrane|plasma membrane Notch binding|calcium ion binding breast(3)|large_intestine(1) 4 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;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) ACCTGCCCTGCCGGCTTCTCTG 0.624000 1 15 0 0 6.4e-05 0 0 MLL2 8085 broad.mit.edu 37 12 49432453 49432453 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:49432453G>A uc001rta.4 - 33 8686 c.8686C>T c.(8686-8688)Cct>Tct p.P2896S NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 2896 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 CCCTGACCAGGAAACGGAGTG 0.622000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 16 10 0 0 0.000442599 0 0 HPX 3263 broad.mit.edu 37 11 6458377 6458377 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:6458377C>T uc001mdg.2 - 6 795 c.734G>A c.(733-735)gGg>gAg p.G245E HPX_uc009yfc.2_Non-coding_Transcript NM_000613 NP_000604 P02790 HEMO_HUMAN Homo sapiens hemopexin (HPX), mRNA. 245 cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(11)|prostate(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) GGTACTGTTCCCATGGCCAGT 0.547000 12 12 0 0 0.000978159 0 0 DHCR7 1717 broad.mit.edu 37 11 71152291 71152291 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:71152291G>A uc001oqk.3 - 5 858 c.608C>T c.(607-609)cCc>cTc p.P203L DHCR7_uc001oql.3_Missense_Mutation_p.P203L NM_001163817 NP_001351 Q9UBM7 DHCR7_HUMAN Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA. 203 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) GGCGCTGGTGGGGAAGAAGTA 0.577000 Smith-Lemli-Opitz syndrome 29 12 0 0 0.00136819 0 0 GRIK5 2901 broad.mit.edu 37 19 42507715 42507715 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:42507715C>T uc002osj.1 - 16 2419 c.2384G>A c.(2383-2385)cGa>cAa p.R795Q GRIK5_uc002osi.1_Missense_Mutation_p.R367Q NM_002088 NP_002079 Q16478 GRIK5_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA. 795 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) ACCTTTAGCTCGATGGTCCTC 0.632000 42 12 0 0 0.00244969 0 0 RYR2 6262 broad.mit.edu 37 1 237777673 237777673 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:237777673C>T uc001hyl.1 + 36 5365 c.5245C>T c.(5245-5247)Cca>Tca p.P1749S NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 1749 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACACGGCCTTCCAGGGATCGG 0.512000 45 5 0 0 0.000602214 0 0 PADI1 29943 broad.mit.edu 37 1 17548886 17548886 + Missense_Mutation SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:17548886A>T uc001bah.1 + 1 286 c.194A>T c.(193-195)aAg>aTg p.K65M NM_013358 NP_037490 Q9ULC6 PADI1_HUMAN Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA. 65 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) CCCATAGGCAAGGCCCGTTGG 0.542000 164 35 0 0 0.00148497 0 0 SPEF2 79925 broad.mit.edu 37 5 35641617 35641617 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:35641617C>T uc003jjo.3 + 2 357 c.246C>T c.(244-246)gcC>gcT p.A82A SPEF2_uc003jjn.1_Silent_p.A82A|SPEF2_uc003jjq.4_Silent_p.A82A NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 82 CH. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGAATGTGGCCCATGGCATCA 0.423000 24 9 0 0 0.000274275 0 0 ZMAT1 84460 broad.mit.edu 37 X 101139513 101139513 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:101139513G>A uc011mrl.2 - 6 1236 c.886C>T c.(886-888)Cat>Tat p.H296Y ZMAT1_uc004eim.3_Missense_Mutation_p.H125Y|ZMAT1_uc004ein.3_Missense_Mutation_p.H125Y|ZMAT1_uc011mrm.2_Missense_Mutation_p.H125Y NM_001011657 NP_001011657 A7MD47 A7MD47_HUMAN Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA. 125 nucleus zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 TTCTTTGAATGAGGTAACTGC 0.383000 3 22 0 0 0.00188189 0 0 FANCI 55215 broad.mit.edu 37 15 89811691 89811691 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:89811691C>T uc010bnp.1 + 9 907 c.817C>T c.(817-819)Cta>Tta p.L273L FANCI_uc002bnm.1_Silent_p.L273L|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Silent_p.L94L NM_001113378 NP_001106849 Q9NVI1 FANCI_HUMAN Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA. 273 DNA repair|cell cycle nucleoplasm protein binding p.I272V(1) breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) CACCATTATTCTACACATTGT 0.408000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 83 27 0 0 0.001512 0 0 WDR66 144406 broad.mit.edu 37 12 122359542 122359542 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:122359542G>A uc009zxk.3 + 1 490 c.331G>A c.(331-333)Gag>Aag p.E111K WDR66_uc021rfh.1_Missense_Mutation_p.E111K NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA. 111 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) GATCCGTTTGGAGACACAGAT 0.418000 47 20 0 0 0.00188189 0 0 FNDC1 84624 broad.mit.edu 37 6 159687154 159687154 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:159687154G>A uc010kjv.3 + 20 5523 c.5323G>A c.(5323-5325)Gat>Aat p.D1775N NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA. 1775 extracellular region p.D1775A(1) 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) TTTCAAACATGATCCCAGCTA 0.468000 33 20 0 0 0.000958276 0 0 CHD7 55636 broad.mit.edu 37 8 61735282 61735282 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:61735282G>A uc003xue.3 + 11 3670 c.3178G>A c.(3178-3180)Gaa>Aaa p.E1060K CHD7_uc022aux.1_Intron|CHD7_uc003xuf.3_Missense_Mutation_p.E173K NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA. 1060 Helicase ATP-binding. T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent nucleus ATP binding|DNA binding|chromatin binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TCAGTTGTATGAAATGTACTT 0.418000 55 28 0 0 0.001512 0 0 AHNAK2 113146 broad.mit.edu 37 14 105419725 105419725 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:105419725G>A uc010axc.1 - 6 2183 c.2063C>T c.(2062-2064)tCa>tTa p.S688L AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S588L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 688 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCCTGGGGCTGACGCCCCGAA 0.542000 70 192 0 0 0.000781405 0 0 C1orf168 199920 broad.mit.edu 37 1 57252873 57252873 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:57252873C>T uc001cym.4 - 3 1334 c.928G>A c.(928-930)Gaa>Aaa p.E310K C1orf168_uc009vzu.1_Non-coding_Transcript NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA. 310 p.V309V(1) 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 GAGCCCTCTTCCACAGTCACT 0.493000 37 42 0 0 0.000781405 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117365219 117365220 + Missense_Mutation DNP CC AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:117365219_117365220CC>AA uc003vjf.3 - 17 4239_4240 c.4147_4148GG>TT c.(4147-4149)ggg>TTg p.G1383L NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA. 1383 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) AGTTGTCTGCCCAAAGCCAGGT 0.500000 233 8 0 0 6.4e-05 0 0 CACNA1S 779 broad.mit.edu 37 1 201043666 201043666 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:201043666C>T uc001gvv.3 - 13 2258 c.2031G>A c.(2029-2031)aaG>aaA p.K677K NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 677 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TCTCCTCAGCCTTGGCCTTCT 0.572000 39 8 0 0 0.000157383 0 0 FMO3 2328 broad.mit.edu 37 1 171083175 171083175 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:171083175G>A uc001ghi.3 + 6 967 c.856G>A c.(856-858)Gat>Aat p.D286N FMO3_uc001ghh.3_Missense_Mutation_p.D286N|FMO3_uc010pmb.2_Missense_Mutation_p.D266N|FMO3_uc010pmc.2_Missense_Mutation_p.D223N NM_001002294 NP_008825 P31513 FMO3_HUMAN Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA. 286 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity p.N285N(1) endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGTATTTAACGATGAGCTCCC 0.408000 43 6 0 0 0.00198382 0 0 SLC2A4RG 56731 broad.mit.edu 37 20 62374129 62374129 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:62374129C>T uc002ygq.3 + 6 1093 c.1038C>T c.(1036-1038)atC>atT p.I346I SLC2A4RG_uc002ygr.3_Silent_p.I241I|SLC2A4RG_uc011abj.2_Silent_p.I241I|SLC2A4RG_uc002ygs.3_Silent_p.I148I NM_020062 NP_064446 Q9NR83 S2A4R_HUMAN Homo sapiens SLC2A4 regulator (SLC2A4RG), mRNA. 346 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1) 7 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) CCTCCAGGATCGGAGTCACCC 0.716000 8 5 0 0 0.000602214 0 0 SEMA6A 57556 broad.mit.edu 37 5 115783050 115783050 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:115783050G>A uc003krx.4 - 19 3112 c.2403C>T c.(2401-2403)atC>atT p.I801I SEMA6A_uc010jck.3_Silent_p.I784I|SEMA6A_uc011cwe.2_Silent_p.I163I|SEMA6A_uc003krv.4_Silent_p.I211I|SEMA6A_uc003krw.4_Silent_p.I261I|SEMA6A_uc010jcj.3_Silent_p.I328I NM_020796 NP_065847 Q9H2E6 SEM6A_HUMAN Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA. 784 Pro-rich. apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) TGCAGGCATTGATGAGGTTCT 0.677000 35 17 0 0 0.000566183 0 0 FAM75A6 389730 broad.mit.edu 37 9 43627414 43627414 + Missense_Mutation SNP C G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:43627414C>G uc011lrb.2 - 3 1302 c.1273G>C c.(1273-1275)Gag>Cag p.E425Q NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA. 425 integral to membrane breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1) 54 ACCAGGGACTCGCTGTGCAGA 0.498000 104 161 0 0 0.000781405 0 0 CELA3B 23436 broad.mit.edu 37 1 22310198 22310198 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:22310198C>T uc001bfk.3 + 4 489 c.374C>T c.(373-375)gCc>gTc p.A125V CELA3B_uc009vqf.3_Intron NM_007352 NP_031378 P08861 CEL3B_HUMAN Homo sapiens chymotrypsin-like elastase family, member 3B (CELA3B), mRNA. 125 Peptidase S1. cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 AATGACATCGCCCTCATCAAG 0.647000 70 17 0 0 0.00188189 0 0 HDC 3067 broad.mit.edu 37 15 50546385 50546385 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:50546385C>T uc001zxz.3 - 5 1004 c.662G>A c.(661-663)gGg>gAg p.G221E HDC_uc001zxy.3_5'Flank|HDC_uc010uff.2_Missense_Mutation_p.G221E|HDC_uc010bet.2_Missense_Mutation_p.G142E|HDC_uc010beu.2_Missense_Mutation_p.G221E NM_002112 NP_002103 P19113 DCHS_HUMAN Homo sapiens histidine decarboxylase (HDC), mRNA. 221 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity p.R220R(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) AAGAGCTTCCCCTCGGAGTGA 0.493000 17 26 0 0 0.000720815 0 0 ABRA 137735 broad.mit.edu 37 8 107781815 107781815 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:107781815C>T uc003ymm.4 - 0 658 c.604G>A c.(604-606)Gag>Aag p.E202K NM_139166 NP_631905 Q8N0Z2 ABRA_HUMAN Homo sapiens actin-binding Rho activating protein (ABRA), mRNA. 202 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) TCGGGCCTCTCCTCAGCCTCT 0.592000 54 156 0 0 0.000781405 0 0 AXIN1 8312 broad.mit.edu 37 16 347774 347774 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:347774A>G uc002cgp.2 - 5 2121 c.1732T>C c.(1732-1734)Tac>Cac p.Y578H LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Missense_Mutation_p.Y578H NM_003502 NP_003493 O15169 AXIN1_HUMAN Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA. 578 Interaction with PPP2CA.|Interaction with RNF111. Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding p.Y578*(1) biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) CTCTCTGAGTAGCCTCGGGAC 0.692000 9 19 0 0 0.00188189 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156916804 156916804 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:156916804G>A uc001fqo.3 - 25 3412 c.2372C>T c.(2371-2373)tCc>tTc p.S791F ARHGEF11_uc010phu.2_Missense_Mutation_p.S207F|ARHGEF11_uc001fqn.3_Missense_Mutation_p.S831F NM_014784 NP_055599 O15085 ARHGB_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA. 791 DH. G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction Golgi apparatus|cytosol|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity p.S831F(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TTCACACCAGGAATCTGGGGC 0.522000 140 30 0 0 0.0024448 0 0 MYH2 4620 broad.mit.edu 37 17 10439901 10439901 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:10439901C>T uc010coi.3 - 16 2048 c.1920G>A c.(1918-1920)aaG>aaA p.K640K AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.K640K|MYH2_uc010coj.3_Silent_p.K640K NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 640 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 p.K640R(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TACCACCTTTCTTGGCCCCTC 0.418000 9 5 0 0 0.00198382 0 0 MAPK1 5594 broad.mit.edu 37 22 22153384 22153384 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:22153384G>A uc002zvn.3 - 3 766 c.526C>T c.(526-528)Cca>Tca p.P176S MAPK1_uc002zvo.3_Missense_Mutation_p.P176S|MAPK1_uc010gtk.1_Missense_Mutation_p.P176S NM_002745 NP_620407 P28482 MK01_HUMAN Homo sapiens mitogen-activated protein kinase 1 (MAPK1), transcript variant 1, mRNA. 176 Protein kinase. ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleoplasm ATP binding|DNA binding|MAP kinase activity|RNA polymerase II carboxy-terminal domain kinase activity|phosphatase binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(54;0.105) all_lung(157;3.89e-05) READ - Rectum adenocarcinoma(21;0.0689) Arsenic trioxide(DB01169) TCATGGTCTGGATCTGCAACA 0.413000 36 13 0 0 0.00185496 0 0 COL5A1 1289 broad.mit.edu 37 9 137622301 137622301 + Missense_Mutation SNP G A A rs148288567 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:137622301G>A uc004cfe.3 + 6 1526 c.1144G>A c.(1144-1146)Gac>Aac p.D382N NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 382 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CAGCACCGCCGACACCTCCAA 0.622000 65 12 0 0 0.00136819 0 0 SCN9A 6335 broad.mit.edu 37 2 167129170 167129170 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:167129170C>T uc010fpl.3 - 16 3398 c.3057G>A c.(3055-3057)ctG>ctA p.L1019L BC051759_uc002udp.3_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 1030 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TCTTAGTATTCAGATCTTCTG 0.328000 20 7 0 0 0.000157383 0 0 SMG6 23293 broad.mit.edu 37 17 2202762 2202762 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:2202762G>A uc002fub.1 - 1 1340 c.1285C>T c.(1285-1287)Cct>Tct p.P429S SMG6_uc002fud.2_Missense_Mutation_p.P398S NM_017575 NP_060045 Q86US8 EST1A_HUMAN Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA. 429 Interaction with telomeric DNA. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GGTCCCAAAGGCGCGGACTCT 0.547000 36 36 0 0 0.00058488 0 0 MAGI1 9223 broad.mit.edu 37 3 65479266 65479266 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:65479266C>T uc003dmn.3 - 2 997 c.471G>A c.(469-471)gtG>gtA p.V157V MAGI1_uc003dmm.3_Silent_p.V157V|MAGI1_uc003dmo.3_Silent_p.V157V|MAGI1_uc003dmp.3_Silent_p.V157V|MAGI1_uc010hny.2_Silent_p.V41V|MAGI1_uc021xac.1_Silent_p.V157V|MAGI1_uc003dmr.3_Silent_p.V157V NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA. 157 Guanylate kinase-like. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) AGTTATAGTCCACGCCAGGCA 0.483000 49 14 0 0 0.00244969 0 0 MPP7 143098 broad.mit.edu 37 10 28378745 28378745 + Silent SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:28378745A>G uc001iua.1 - 13 1382 c.978T>C c.(976-978)ctT>ctC p.L326L MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Silent_p.L326L|MPP7_uc009xla.2_Silent_p.L326L|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. 326 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 CTTTTCTACTAAGACGAAAAC 0.323000 15 13 0 0 0.00136819 0 0 ERCC6 2074 broad.mit.edu 37 10 50690901 50690901 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:50690901G>A uc001jhs.4 - 9 2155 c.2001C>T c.(1999-2001)acC>acT p.T667T ERCC6_uc010qgr.2_Silent_p.T37T|ERCC6_uc001jhr.4_Silent_p.T67T NM_000124 NP_000115 Q03468 ERCC6_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA. 667 Helicase ATP-binding. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TCCGATGAGGGGTGCGAAACT 0.448000 Direct reversal of damage;Nucleotide excision repair (NER) 42 34 0 0 0.00283554 0 0 BCAS3 54828 broad.mit.edu 37 17 59161840 59161841 + Missense_Mutation DNP CC TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:59161840_59161841CC>TT uc002iyv.4 + 22 2494_2495 c.2385_2386CC>TT c.(2383-2388)gtccgc>gtTTgc p.R796C BCAS3_uc002iyu.4_Missense_Mutation_p.R781C|BCAS3_uc002iyw.4_Missense_Mutation_p.R777C|BCAS3_uc002iyy.4_Missense_Mutation_p.R552C|BCAS3_uc002iyz.4_Missense_Mutation_p.R350C|BCAS3_uc002iza.4_Missense_Mutation_p.R335C NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA. 796 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) TCCAGCCAGTCCGCTCTGACCC 0.475000 54 13 0 0 6.4e-05 0 0 HSP90B3P 343477 broad.mit.edu 37 1 92108418 92108418 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:92108418C>T uc010osx.2 + 2 445 c.445C>T c.(445-447)Cca>Tca p.P149S Homo sapiens heat shock protein 90kDa beta (Grp94), member 3, pseudogene (HSP90B3P), non-coding RNA. CACATCTGATCCACGTGGTCT 0.363000 3 27 0 0 0.000586117 0 0 PCSK5 5125 broad.mit.edu 37 9 78848417 78848417 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:78848417G>A uc004akc.2 + 21 3309 c.2771G>A c.(2770-2772)tGg>tAg p.W924* NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 625 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 TGCCCCTCATGGAAATTTGAA 0.502000 48 14 0 0 0.000422831 0 0 CCDC8 83987 broad.mit.edu 37 19 46915887 46915887 + Missense_Mutation SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:46915887T>C uc002pep.3 - 0 1033 c.181A>G c.(181-183)Aag>Gag p.K61E NM_032040 NP_114429 Q9H0W5 CCDC8_HUMAN Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA. 61 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) ggggtgctcttctccatgatg 0.657000 55 17 0 0 0.00121646 0 0 RGS9BP 388531 broad.mit.edu 37 19 33167751 33167751 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:33167751C>T uc002ntp.1 + 0 1439 c.582C>T c.(580-582)tcC>tcT p.S194S ANKRD27_uc002ntn.1_5'Flank|ANKRD27_uc002nto.1_5'Flank NM_207391 NP_997274 Q6ZS82 R9BP_HUMAN Homo sapiens regulator of G protein signaling 9 binding protein (RGS9BP), mRNA. 194 SNARE-like (By similarity). negative regulation of signal transduction integral to membrane central_nervous_system(1)|lung(2) 3 Esophageal squamous(110;0.137) CCGGCCCCTCCTCGGTCGTGT 0.716000 12 8 0 0 0.000274275 0 0 ASZ1 136991 broad.mit.edu 37 7 117060321 117060321 + Missense_Mutation SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:117060321T>A uc003vjb.2 - 3 399 c.336A>T c.(334-336)caA>caT p.Q112H ASZ1_uc011kno.1_Missense_Mutation_p.Q112H|ASZ1_uc011knp.1_5'UTR NM_130768 NP_570124 Q8WWH4 ASZ1_HUMAN Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA. 112 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) TCAAAATACTTTGCTTATCTA 0.358000 69 15 0 0 0.000422831 0 0 KLF11 8462 broad.mit.edu 37 2 10188702 10188702 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:10188702C>T uc002raf.1 + 2 1400 c.1238C>T c.(1237-1239)gCc>gTc p.A413V KLF11_uc021vdq.1_Missense_Mutation_p.A396V|KLF11_uc010yjc.2_Missense_Mutation_p.A396V NM_003597 NP_001171189 O14901 KLF11_HUMAN Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA. 413 apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle nucleus sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228) CACCTTAAGGCCCATCTTCGC 0.557000 OREG0014425 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 219 70 0 0 0.000781405 0 0 OPN1MW 2652 broad.mit.edu 37 X 153458976 153458976 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:153458976C>T uc004fkb.3 + 4 904 c.822C>T c.(820-822)gtC>gtT p.V274V NM_000513 NP_001041646 P04001 OPSG_HUMAN Homo sapiens opsin 1 (cone pigments), medium-wave-sensitive (OPN1MW), mRNA. 274 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|lung(1) 2 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGGTGATGGTCCTGGCATTCT 0.577000 115 50 0 0 0.000781405 0 0 ASB6 140459 broad.mit.edu 37 9 132402973 132402973 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:132402973G>A uc004byf.2 - 1 312 c.142C>T c.(142-144)Cga>Tga p.R48* ASB6_uc004bye.1_5'UTR|ASB6_uc010myx.2_Nonsense_Mutation_p.R48*|ASB6_uc004byg.2_Nonsense_Mutation_p.R48*|ASB6_uc011mbt.2_Intron NM_017873 NP_060343 Q9NWX5 ASB6_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 6 (ASB6), transcript variant 1, mRNA. 48 intracellular signal transduction cytoplasm NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 15 Ovarian(14;0.00556) ACAAGGATTCGGCTCTCCTCG 0.622000 24 22 0 0 0.00229938 0 0 SYT16 83851 broad.mit.edu 37 14 62463197 62463197 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:62463197C>T uc001xfu.1 + 0 657 c.460C>T c.(460-462)Ctt>Ttt p.L154F SYT16_uc010tsd.1_Missense_Mutation_p.L154F NM_031914 NP_114120 Q17RD7 SYT16_HUMAN Homo sapiens synaptotagmin XVI (SYT16), mRNA. 154 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) AAGAAGTGGCCTTCAACATGG 0.478000 52 16 0 0 0.000422831 0 0 WFS1 7466 broad.mit.edu 37 4 6279305 6279305 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:6279305C>T uc003giy.3 + 1 289 c.123C>T c.(121-123)ccC>ccT p.P41P WFS1_uc003gix.3_Silent_p.P41P NM_001145853 NP_005996 O76024 WFS1_HUMAN Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA. 41 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) GCGAAAGGCCCCGAGCACCCG 0.711000 72 38 0 0 0.00128727 0 0 DDX60L 91351 broad.mit.edu 37 4 169351758 169351758 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:169351758G>A uc021xuh.1 - 11 1658 c.1548C>T c.(1546-1548)ttC>ttT p.F516F DDX60L_uc003irq.4_Silent_p.F516F|DDX60L_uc003irr.1_Silent_p.F516F|DDX60L_uc003irs.1_Silent_p.F243F NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA. 516 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) TCTTTTTCAGGAAATCAAGAA 0.333000 9 7 0 0 0.00198382 0 0 COL1A2 1278 broad.mit.edu 37 7 94058723 94058723 + Missense_Mutation SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:94058723T>C uc003ung.1 + 50 4406 c.3935T>C c.(3934-3936)gTt>gCt p.V1312A COL1A2_uc011kib.1_Missense_Mutation_p.V164A NM_000089 NP_000080 P08123 CO1A2_HUMAN Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA. 1312 Fibrillar collagen NC1. Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) ACTTACACTGTTCTTGTAGAT 0.478000 HNSCC(75;0.22) 3 53 0 0 0.000781405 0 0 TPTEP1 387590 broad.mit.edu 37 22 17119484 17119484 + RNA SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:17119484C>T uc002zls.1 + 1 c.321C>T TPTEP1_uc002zlr.3_Non-coding_Transcript|TPTEP1_uc002zlt.3_Non-coding_Transcript Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA. TTGGAGTTTTCCTGGTCTTAC 0.333000 102 19 0 0 0.00121646 0 0 WDR47 22911 broad.mit.edu 37 1 109538320 109538321 + Missense_Mutation DNP GG TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:109538320_109538321GG>TT uc001dwl.3 - 7 1972_1973 c.1596_1597CC>AA c.(1594-1599)ccccaa>ccAAaa p.Q533K WDR47_uc001dwi.3_Missense_Mutation_p.Q526K|WDR47_uc001dwj.3_Missense_Mutation_p.Q525K|WDR47_uc001dwk.2_Missense_Mutation_p.Q497K|WDR47_uc010ovf.2_Missense_Mutation_p.Q452K NM_001142550 NP_001136022 O94967 WDR47_HUMAN Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA. 525 breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) CTAGAGTCTTGGGGTGGTGTAG 0.416000 914 17 0 0 6.4e-05 0 0 MYH7 4625 broad.mit.edu 37 14 23887546 23887546 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:23887546C>T uc001wjx.3 - 29 4148 c.4042G>A c.(4042-4044)Gag>Aag p.E1348K MIR208B_uc021rqy.1_5'Flank NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 1348 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GTCTCCTCCTCGTACTGCTCC 0.667000 38 17 0 0 0.000422831 0 0 IVL 3713 broad.mit.edu 37 1 152882751 152882751 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:152882751G>A uc021ozl.1 + 0 478 c.478G>A c.(478-480)Gag>Aag p.E160K IVL_uc001fau.3_Missense_Mutation_p.E160K NM_005547 NP_005538 P07476 INVO_HUMAN Homo sapiens involucrin (IVL), mRNA. 160 39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD]. isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AGagcagcaggaggggcacct 0.582000 33 7 0 0 0.000157383 0 0 OR4E2 26686 broad.mit.edu 37 14 22134146 22134146 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:22134146C>T uc010tmd.2 + 0 850 c.850C>T c.(850-852)Ccc>Tcc p.P284S NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA. 284 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) TTTGCTGAATCCCTTCATTTA 0.448000 20 9 0 0 0.000274275 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151152882 151152882 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:151152882G>A uc011eem.1 + 14 2900 c.2812G>A c.(2812-2814)Gag>Aag p.E938K PLEKHG1_uc011eel.1_Missense_Mutation_p.E919K|PLEKHG1_uc003qny.1_Missense_Mutation_p.E879K|PLEKHG1_uc003qnz.2_Missense_Mutation_p.E879K NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA. 879 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GAGCACCCCTGAGCTGAGCCG 0.627000 23 15 0 0 0.00244969 0 0 FAM5C 339479 broad.mit.edu 37 1 190067725 190067725 + Missense_Mutation SNP G A A rs146145589 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:190067725G>A uc001gse.1 - 7 1956 c.1724C>T c.(1723-1725)cCc>cTc p.P575L FAM5C_uc010pot.1_Missense_Mutation_p.P473L NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 575 extracellular region p.N574N(1)|p.P575T(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GCCTCCGAAGGGATTGACATA 0.463000 107 54 0 0 0.000781405 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140784900 140784900 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140784900C>T uc003lkh.2 + 0 2381 c.2381C>T c.(2380-2382)tCt>tTt p.S794F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.S794F|PCDHGC5_uc003lki.1_5'Flank|PCDHGC5_uc003lkj.2_5'Flank NM_018921 NP_061744 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA. 804 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) TTGTGCGTCTCTGTTGATTCC 0.418000 36 20 0 0 0.00121646 0 0 ZNF699 374879 broad.mit.edu 37 19 9406533 9406533 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9406533G>A uc002mlc.1 - 4 1547 c.1547C>T c.(1546-1548)tCc>tTc p.S516F NM_198535 NP_940937 Q32M78 ZN699_HUMAN Homo sapiens zinc finger protein 699 (ZNF699), mRNA. 516 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TGTAAGGTGGGAGGAACTAAT 0.443000 33 10 0 0 0.000978159 0 0 ZFP57 346171 broad.mit.edu 37 6 29640907 29640907 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:29640907G>A uc011dlw.2 - 3 1132 c.981C>T c.(979-981)gcC>gcT p.A327A NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA. 243 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 CCTGGGACCTGGCCACTGGTG 0.557000 37 84 0 0 0.000781405 0 0 CA3 761 broad.mit.edu 37 8 86351982 86351982 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:86351982G>A uc003ydj.3 + 1 159 c.76G>A c.(76-78)Gaa>Aaa p.E26K CA13_uc003ydf.1_Non-coding_Transcript|CA3_uc011lfv.2_Non-coding_Transcript NM_005181 NP_005172 P07451 CAH3_HUMAN Homo sapiens carbonic anhydrase III, muscle specific (CA3), mRNA. 26 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 TGCCAAGGGGGAAAACCAGTC 0.493000 28 19 0 0 0.00188189 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55344234 55344234 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:55344234C>T uc002qhm.1 + 0 61 c.15C>T c.(13-15)gtC>gtT p.V5V KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Silent_p.V5V NM_012314 NP_036446 P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA. 5 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) CGCTCATGGTCATCATCATGG 0.617000 99 81 0 0 0.000781405 0 0 DGKE 8526 broad.mit.edu 37 17 54912440 54912440 + Missense_Mutation SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:54912440A>C uc002iur.3 + 1 464 c.284A>C c.(283-285)gAc>gCc p.D95A DGKE_uc002ius.1_Missense_Mutation_p.D95A|C17orf67_uc002iuq.3_5'Flank NM_003647 NP_003638 P52429 DGKE_HUMAN Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA. 95 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 Breast(9;3.59e-07) CTCCGCGTGGACGAGGGCTGC 0.637000 21 14 0 0 0.00185496 0 0 TM4SF19 116211 broad.mit.edu 37 3 196054427 196054427 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:196054427C>T uc010iad.2 - 1 193 c.35G>A c.(34-36)cGg>cAg p.R12Q TM4SF19_uc003fwj.3_Non-coding_Transcript|TM4SF19_uc003fwl.2_Missense_Mutation_p.R12Q|TM4SF19_uc021xjs.1_Missense_Mutation_p.R12Q|TM4SF19_uc011btv.2_Missense_Mutation_p.R12Q NM_001204897 NP_001191826 Q96DZ7 T4S19_HUMAN Homo sapiens transmembrane 4 L six family member 19 (TM4SF19), transcript variant 2, mRNA. 12 integral to membrane endometrium(2)|kidney(2)|large_intestine(3)|lung(5) 12 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) GGAGCAAGTCCGTGAGCTTGC 0.607000 54 20 0 0 0.00152264 0 0 PRKG1 5592 broad.mit.edu 37 10 54040554 54040554 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:54040554C>T uc001jjm.3 + 12 1592 c.1364C>T c.(1363-1365)tCg>tTg p.S455L PRKG1_uc001jjo.3_Missense_Mutation_p.S470L|PRKG1_uc009xow.2_Missense_Mutation_p.S173L|LOC100506939_uc021pqu.1_Intron NM_001098512 NP_001091982 Q13976 KGP1_HUMAN Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA. 455 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) CTCAGAGGTTCGTTTGAAGAT 0.343000 8 9 0 0 0.000978159 0 0 LILRB5 10990 broad.mit.edu 37 19 54759232 54759232 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:54759232C>T uc010yer.1 - 4 953 c.842G>A c.(841-843)gGg>gAg p.G281E LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.G290E|LILRB5_uc002qez.3_Missense_Mutation_p.G190E|LILRB5_uc002qex.3_Missense_Mutation_p.G290E|LILRB5_uc002qfa.1_Missense_Mutation_p.G180E|LILRB5_uc010yes.1_Non-coding_Transcript O75023 LIRB5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA. 290 Ig-like C2-type 3. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTACTGGCCCCCGTGGGAGCG 0.682000 40 29 0 0 0.00127121 0 0 CREBRF 153222 broad.mit.edu 37 5 172517681 172517681 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:172517681C>T uc003mch.3 + 3 818 c.499C>T c.(499-501)Ccc>Tcc p.P167S CREBRF_uc003mcf.3_Missense_Mutation_p.P167S|CREBRF_uc003mcg.3_Missense_Mutation_p.P167S|CREBRF_uc011dfd.1_Missense_Mutation_p.P167S NM_153607 NP_705835 Q8IUR6 CE041_HUMAN Homo sapiens chromosome 5 open reading frame 41 (C5orf41), transcript variant 1, mRNA. 167 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity CAAACAAAATCCCTTACCCTC 0.433000 24 17 0 0 0.000566183 0 0 PKLR 5313 broad.mit.edu 37 1 155263375 155263375 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:155263375C>T uc001fkb.4 - 7 1162 c.1123G>A c.(1123-1125)Gag>Aag p.E375K PKLR_uc001fka.4_Missense_Mutation_p.E344K NM_000298 NP_000289 P30613 KPYR_HUMAN Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 375 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) ATCATGCTCTCCAGCATCTGG 0.577000 19 47 0 0 0.000781405 0 0 PLXND1 23129 broad.mit.edu 37 3 129279270 129279270 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:129279270G>A uc003emx.2 - 30 5136 c.5036C>T c.(5035-5037)cCt>cTt p.P1679L PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Missense_Mutation_p.P347L NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN Homo sapiens plexin D1 (PLXND1), mRNA. 1679 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 CTCGTCCGTAGGCAGCACCTG 0.647000 6 4 0 0 0.000602214 0 0 FAM155B 27112 broad.mit.edu 37 X 68748926 68748926 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:68748926G>A uc004dxk.3 + 1 1000 c.952G>A c.(952-954)Gag>Aag p.E318K NM_015686 NP_056501 O75949 F155B_HUMAN Homo sapiens family with sequence similarity 155, member B (FAM155B), mRNA. 318 integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1) 16 ATACTGCCTGGAGGTGCAGAC 0.587000 15 10 0 0 0.000978159 0 0 DNM1P46 196968 broad.mit.edu 37 15 100332404 100332404 + RNA SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:100332404G>A uc021sxl.1 - 1 c.749C>T DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA. GCTCCAGAGTGGCCTTATGGA 0.542000 59 36 0 0 0.00111076 0 0 ABCG2 9429 broad.mit.edu 37 4 89039399 89039399 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:89039399C>T uc003hrg.3 - 6 1196 c.703G>A c.(703-705)Gga>Aga p.G235R ABCG2_uc003hrh.3_Missense_Mutation_p.G235R|ABCG2_uc003hrf.3_Missense_Mutation_p.G105R NM_004827 NP_004818 Q9UNQ0 ABCG2_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA. 235 ABC transporter. cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) ATTGTTCGTCCCTGCTTAGAC 0.373000 41 18 0 0 0.00278032 0 0 OR52E2 119678 broad.mit.edu 37 11 5080082 5080082 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:5080082G>A uc010qyw.2 - 0 776 c.776C>T c.(775-777)tCc>tTc p.S259F NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA. 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) AGTCATAAAGGAAAAGAGGGC 0.473000 21 24 0 0 0.00047179 0 0 SALL1 6299 broad.mit.edu 37 16 51173298 51173298 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:51173298C>T uc021tif.1 - 1 2866 c.2544G>A c.(2542-2544)gaG>gaA p.E848E SALL1_uc021tid.1_Silent_p.E848E|SALL1_uc021tie.1_Silent_p.E945E|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 945 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GTGGTTTCTCCTCAATGCTGG 0.552000 25 10 0 0 0.00136819 0 0 PPYR1 5540 broad.mit.edu 37 10 47086912 47086912 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:47086912C>T uc001jee.3 + 2 548 c.129C>T c.(127-129)ttC>ttT p.F43F ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.F43F|PPYR1_uc021ppu.1_Silent_p.F43F NM_005972 NP_005963 P50391 NPY4R_HUMAN Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA. 43 blood circulation|digestion|feeding behavior integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TGATGGTCTTCATCGTCACTT 0.522000 117 52 0 0 0.000781405 0 0 SPPL2C 162540 broad.mit.edu 37 17 43924178 43924178 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:43924178C>T uc010wka.2 + 0 1923 c.1906C>T c.(1906-1908)Cca>Tca p.P636S MAPT-AS1_uc010wjz.2_Intron NM_175882 NP_787078 Q8IUH8 IMP5_HUMAN Homo sapiens intramembrane protease 5 (IMP5), mRNA. 636 integral to membrane aspartic-type endopeptidase activity CATGCTGATCCCACTCATGCC 0.662000 23 32 0 0 0.0024448 0 0 OR8J1 219477 broad.mit.edu 37 11 56128572 56128572 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:56128572C>T uc010rjh.2 + 0 882 c.850C>T c.(850-852)Cct>Tct p.P284S NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA. 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P284P(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) GTTGGTAATTCCTATGCTGAA 0.393000 22 14 0 0 0.00244969 0 0 C3orf30 152405 broad.mit.edu 37 3 118866239 118866239 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:118866239C>T uc003ecb.1 + 0 1243 c.1203C>T c.(1201-1203)gaC>gaT p.D401D IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Silent_p.D401D NM_152539 NP_689752 Q96M34 CC030_HUMAN Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA. 401 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) GCCAAGTAGACCTCAATTCCA 0.448000 24 12 0 0 0.000978159 0 0 CD72 971 broad.mit.edu 37 9 35612968 35612968 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:35612968C>T uc003zxb.2 - 5 835 c.711G>A c.(709-711)tgG>tgA p.W237* CD72_uc010mkt.1_Nonsense_Mutation_p.W22*|CD72_uc010mku.2_Nonsense_Mutation_p.W237* NM_001782 NP_001773 P21854 CD72_HUMAN Homo sapiens CD72 molecule (CD72), mRNA. 237 C-type lectin. axon guidance|cell adhesion integral to plasma membrane receptor binding|sugar binding|transmembrane receptor activity large_intestine(5)|liver(1)|lung(6) 12 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GATGCATTATCCATCCCGACG 0.413000 23 47 0 0 0.000781405 0 0 SPAM1 6677 broad.mit.edu 37 7 123595075 123595075 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:123595075G>A uc003vle.3 + 3 1418 c.979G>A c.(979-981)Gaa>Aaa p.E327K SPAM1_uc011koa.1_5'UTR|SPAM1_uc003vld.3_Missense_Mutation_p.E327K|SPAM1_uc022aks.1_Missense_Mutation_p.E327K|SPAM1_uc003vlf.4_Missense_Mutation_p.E327K|SPAM1_uc010lku.3_Missense_Mutation_p.E327K NM_003117 NP_003108 P38567 HYALP_HUMAN Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA. 327 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity p.E327K(3) breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) TACATTTGGCGAAACTGTTGC 0.373000 22 27 0 0 0.000878237 0 0 RHOU 58480 broad.mit.edu 37 1 228879431 228879431 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:228879431G>A uc001htf.3 + 2 1387 c.721G>A c.(721-723)Gat>Aat p.D241N RHOU_uc021pkj.1_Non-coding_Transcript NM_021205 NP_067028 Q7L0Q8 RHOU_HUMAN Homo sapiens ras homolog gene family, member U (RHOU), transcript variant 1, mRNA. 241 regulation of small GTPase mediated signal transduction Golgi membrane|cell projection|cytosol|focal adhesion|podosome GTP binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 13 Breast(184;0.162) Prostate(94;0.183) CAGGACTCCAGATAAAATGAA 0.438000 118 28 0 0 0.00178596 0 0 BCL11A 53335 broad.mit.edu 37 2 60689025 60689025 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:60689025C>T uc002sae.1 - 3 1250 c.1022G>A c.(1021-1023)aGg>aAg p.R341K BCL11A_uc002sab.3_Missense_Mutation_p.R341K|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Missense_Mutation_p.R307K|BCL11A_uc002sad.1_Missense_Mutation_p.R189K|BCL11A_uc002saf.1_Missense_Mutation_p.R307K NM_022893 NP_075044 Q9H165 BC11A_HUMAN Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA. 341 Pro-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TTGCAGTAACCTTTGCATAGG 0.652000 T IGH@ B-CLL 408 133 0 0 0.000781405 0 0 GGT5 2687 broad.mit.edu 37 22 24616028 24616028 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:24616028G>A uc002zzp.4 - 11 2091 c.1674C>T c.(1672-1674)ttC>ttT p.F558F GGT5_uc002zzo.4_Silent_p.F557F|GGT5_uc002zzr.4_Silent_p.F525F|GGT5_uc002zzq.4_3'UTR|GGT5_uc011ajm.2_Silent_p.F481F NM_001099781 NP_001093251 P36269 GGT5_HUMAN Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA. 557 glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 CCACGTTCAGGAAGAAGGGCC 0.632000 11 44 0 0 0.000781405 0 0 PLCL1 5334 broad.mit.edu 37 2 198953663 198953664 + Missense_Mutation DNP CG AT AT rs45481595 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:198953663_198953664CG>AT uc010fsp.3 + 2 3195_3196 c.2797_2798CG>AT c.(2797-2799)cgg>ATg p.R933M PLCL1_uc002uuv.4_Missense_Mutation_p.R854M NM_006226 NP_006217 Q15111 PLCL1_HUMAN Homo sapiens phospholipase C-like 1 (PLCL1), mRNA. 933 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) TCTGTCATCTCGGCTCATCACC 0.460000 333 9 0 0 6.4e-05 0 0 TBX21 30009 broad.mit.edu 37 17 45820503 45820503 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:45820503C>T uc002ilv.1 + 2 924 c.713C>T c.(712-714)tCa>tTa p.S238L NM_013351 NP_037483 Q9UL17 TBX21_HUMAN Homo sapiens T-box 21 (TBX21), mRNA. 238 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 22 CAGGAAGTTTCATTTGGGAAA 0.572000 21 40 0 0 0.00148497 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47605858 47605858 + Missense_Mutation SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:47605858A>T uc002xtx.4 + 18 2722 c.2570A>T c.(2569-2571)aAc>aTc p.N857I ARFGEF2_uc010zyf.2_Missense_Mutation_p.N150I NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA. 857 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction Golgi membrane|cytosol ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) CTGCTGTACAACTTAGAGATG 0.517000 52 19 0 0 0.000958276 0 0 GFPT2 9945 broad.mit.edu 37 5 179743354 179743354 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:179743354G>A uc003mlw.1 - 12 1358 c.1260C>T c.(1258-1260)ttC>ttT p.F420F NM_005110 NP_005101 O94808 GFPT2_HUMAN Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA. 420 SIS 1. UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) ACTGGCTGATGAAAAAGCAAA 0.493000 23 7 0 0 0.000157383 0 0 ABCA13 154664 broad.mit.edu 37 7 48314904 48314904 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:48314904G>A uc003toq.2 + 16 5665 c.5641G>A c.(5641-5643)Gaa>Aaa p.E1881K ABCA13_uc010kyr.2_Missense_Mutation_p.E1384K|ABCA13_uc022acp.1_Missense_Mutation_p.E380K NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 1881 transport integral to membrane ATP binding|ATPase activity p.E1826Q(1)|p.E1881Q(1) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CTCCCGAATGGAAATAACTAG 0.403000 94 11 0 0 0.000978159 0 0 FAT3 120114 broad.mit.edu 37 11 92087984 92087984 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:92087984G>A uc001pdj.4 + 0 2723 c.2706G>A c.(2704-2706)ttG>ttA p.L902L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 902 Cadherin 8. 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) ATTATTCTTTGAAAATAGAAG 0.438000 TCGA Ovarian(4;0.039) 144 85 0 0 0.000781405 0 0 APOB 338 broad.mit.edu 37 2 21225916 21225916 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:21225916G>A uc002red.3 - 28 12506 c.12378C>T c.(12376-12378)atC>atT p.I4126I NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 4126 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ACCTCACGTCGATATCATCAA 0.502000 324 99 0 0 0.000781405 0 0 IP6K1 9807 broad.mit.edu 37 3 49770250 49770250 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:49770250G>A uc021wyl.1 - 3 1243 c.590C>T c.(589-591)tCc>tTc p.S197F IP6K1_uc003cxm.1_Missense_Mutation_p.S197F|IP6K1_uc003cxn.1_Missense_Mutation_p.S32F NM_001242829 NP_001229758 Q92551 IP6K1_HUMAN Homo sapiens inositol hexakisphosphate kinase 1 (IP6K1), transcript variant 3, mRNA. 197 phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 15 CTTGGACTCGGAGCGCATGCG 0.557000 63 11 0 0 0.00244969 0 0 CSMD3 114788 broad.mit.edu 37 8 114327001 114327001 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:114327001C>T uc003ynu.3 - 1 359 c.200G>A c.(199-201)gGa>gAa p.G67E CSMD3_uc003ynt.3_Missense_Mutation_p.G27E|CSMD3_uc011lhx.2_Missense_Mutation_p.G67E|CSMD3_uc010mcx.1_Missense_Mutation_p.G67E|CSMD3_uc003ynx.4_Missense_Mutation_p.G67E NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 67 CUB 1. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTTTAAAGTTCCACCACATGT 0.318000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 45 122 0 0 0.000781405 0 0 AXDND1 126859 broad.mit.edu 37 1 179414189 179414189 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:179414189G>A uc001gmo.3 + 15 2035 c.1648G>A c.(1648-1650)Gaa>Aaa p.E550K AXDND1_uc001gmn.2_Missense_Mutation_p.E338K|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Intron|AXDND1_uc021pfj.1_Missense_Mutation_p.E508K NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA. 550 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 ACATTTACAGGAAAACTGGGC 0.378000 48 61 0 0 0.000781405 0 0 ATP7B 540 broad.mit.edu 37 13 52548313 52548313 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:52548313G>A uc001vfw.2 - 1 1200 c.1043C>T c.(1042-1044)tCc>tTc p.S348F ATP7B_uc001vfy.2_Intron|ATP7B_uc010adv.2_Missense_Mutation_p.S348F|ATP7B_uc001vfx.2_Missense_Mutation_p.S348F|ATP7B_uc010tgt.1_Missense_Mutation_p.S348F|ATP7B_uc010tgu.1_Missense_Mutation_p.S348F|ATP7B_uc010tgv.1_Missense_Mutation_p.S348F|ATP7B_uc010tgw.1_Missense_Mutation_p.S316F NM_000053 NP_000044 P35670 ATP7B_HUMAN Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA. 348 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) TCTCGGTGGGGAGCCAGGGGA 0.532000 Wilson disease 33 31 0 0 0.0024448 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209217485 209217485 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:209217485C>T uc002vcz.3 + 38 5981 c.5823C>T c.(5821-5823)ttC>ttT p.F1941F NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA. 1941 Catalytic.|PIPK. cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 AAAATCTTTTCTACGGGAGAA 0.393000 66 43 0 0 0.000781405 0 0 PTPRN2 5799 broad.mit.edu 37 7 157959969 157959969 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:157959969G>A uc003wno.3 - 5 685 c.564C>T c.(562-564)ttC>ttT p.F188F PTPRN2_uc003wnp.3_Silent_p.F171F|PTPRN2_uc003wnq.3_Silent_p.F188F|PTPRN2_uc003wnr.3_Silent_p.F150F|PTPRN2_uc011kwa.2_Silent_p.F211F NM_002847 NP_002838 Q92932 PTPR2_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA. 188 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) TGCTCTCGGAGAAGCGGTCAT 0.607000 86 25 0 0 0.00209593 0 0 COBL 23242 broad.mit.edu 37 7 51096981 51096981 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:51096981G>A uc003tps.3 - 10 2168 c.1983C>T c.(1981-1983)tcC>tcT p.S661S COBL_uc003tpr.4_Silent_p.S604S|COBL_uc011kcl.2_Silent_p.S604S|COBL_uc003tpp.4_Silent_p.S390S|COBL_uc003tpq.4_Silent_p.S545S|COBL_uc003tpo.4_Silent_p.S146S NM_015198 NP_056013 O75128 COBL_HUMAN Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA. 604 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CGACGTCATGGGAAGCGGGGT 0.547000 83 18 0 0 0.00121646 0 0 PTDSS1 9791 broad.mit.edu 37 8 97299284 97299284 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:97299284C>T uc003yht.1 + 3 453 c.351C>T c.(349-351)ttC>ttT p.F117F PTDSS1_uc003yhu.1_Intron NM_014754 NP_055569 P48651 PTSS1_HUMAN Homo sapiens phosphatidylserine synthase 1 (PTDSS1), mRNA. 117 phosphatidylserine biosynthetic process integral to membrane transferase activity endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1) 29 Breast(36;6.18e-05) Phosphatidylserine(DB00144) TCCTGGTATTCCTACTCTTCC 0.408000 68 103 0 0 0.000781405 0 0 MYH1 4619 broad.mit.edu 37 17 10416015 10416015 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:10416015C>T uc002gmo.3 - 10 1085 c.991G>A c.(991-993)Gag>Aag p.E331K AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 331 Myosin head-like. muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GCCATCAACTCTTCTTGGTCA 0.403000 37 37 0 0 0.00128727 0 0 COL24A1 255631 broad.mit.edu 37 1 86557993 86557993 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:86557993C>T uc001dlj.3 - 5 1685 c.1610G>A c.(1609-1611)gGa>gAa p.G537E COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.G537E NM_152890 NP_690850 Q17RW2 COOA1_HUMAN Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA. 537 Collagen-like 1. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TCCTGGATCTCCTTTGGGGCC 0.313000 49 12 0 0 0.00152264 0 0 XKR7 343702 broad.mit.edu 37 20 30585110 30585110 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:30585110G>A uc002wxe.3 + 2 1764 c.1590G>A c.(1588-1590)aaG>aaA p.K530K NM_001011718 NP_001011718 Q5GH72 XKR7_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA. 530 integral to membrane p.R529H(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TGCCTCGCAAGAAGTACCCGG 0.637000 29 84 0 0 0.000781405 0 0 PKD1L2 114780 broad.mit.edu 37 16 81198262 81198262 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:81198262G>A uc002fgh.1 - 19 3332 c.3332C>T c.(3331-3333)cCc>cTc p.P1111L PKD1L2_uc002fgg.1_Non-coding_Transcript NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 1111 REJ. 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 TATATCCACGGGCTCCTGGCC 0.547000 57 32 0 0 0.000692331 0 0 NBPF1 55672 broad.mit.edu 37 1 16913547 16913548 + Missense_Mutation DNP GG TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:16913547_16913548GG>TT uc009vos.1 - 10 1663_1664 c.775_776CC>AA c.(775-777)cca>AAa p.P259K NBPF1_uc009vot.1_5'UTR|NBPF1_uc001ayz.1_5'UTR|NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. 259 NBPF 1. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GAGGCTACCTGGGAGAATGTTT 0.401000 418 10 0 0 6.4e-05 0 0 OR5R1 219479 broad.mit.edu 37 11 56185304 56185304 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:56185304C>T uc010rji.2 - 0 405 c.405G>A c.(403-405)ctG>ctA p.L135L OR8U8_uc001nit.2_Intron NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA. 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) TTCTTGACATCAGTGTTGAAT 0.458000 24 17 0 0 0.00074312 0 0 DCLK2 166614 broad.mit.edu 37 4 151119159 151119159 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:151119159C>T uc003ilo.4 + 3 1619 c.865C>T c.(865-867)Cgt>Tgt p.R289C DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Missense_Mutation_p.R289C|DCLK2_uc003iln.4_Missense_Mutation_p.R289C NM_001040261 NP_001035351 Q8N568 DCLK2_HUMAN Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA. 289 intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) TCTAGAATGTCGTGTCCTGAA 0.408000 39 13 0 0 0.00185496 0 0 PMS2 5395 broad.mit.edu 37 7 6017358 6017358 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:6017358G>A uc003spl.3 - 13 2393 c.2306C>T c.(2305-2307)tCc>tTc p.S769F PMS2_uc003spj.3_Missense_Mutation_p.S663F|PMS2_uc003spk.3_Missense_Mutation_p.S634F|PMS2_uc011jwl.2_Missense_Mutation_p.S634F|PMS2_uc010ktg.3_Missense_Mutation_p.S458F|PMS2_uc010kte.3_Missense_Mutation_p.S368F|PMS2_uc010ktf.2_Intron NM_000535 NP_000526 P54278 PMS2_HUMAN Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA. 769 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) AGTTGGCAAGGAAATCAGTTT 0.463000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 121 18 0 0 0.00188189 0 0 PLB1 151056 broad.mit.edu 37 2 28800975 28800975 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:28800975G>A uc002rmb.2 + 22 1478 c.1434_splice c.e22-1 p.E478_splice PLB1_uc010ezj.2_Splice_Site_p.E489_splice|PLB1_uc002rmc.3_Splice_Site_p.E166_splice|PLB1_uc002rmd.1_Splice_Site NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA. 478 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) TTTCCACAGGGATCTACCTGT 0.557000 36 28 0 0 0.00058488 0 0 FGA 2243 broad.mit.edu 37 4 155505773 155505773 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:155505773C>T uc003iod.1 - 5 2162 c.2104G>A c.(2104-2106)Gag>Aag p.E702K NM_000508 NP_000499 P02671 FIBA_HUMAN Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA. 702 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding p.D701D(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CCTTCCCCCTCGTCATTCAGG 0.488000 50 22 0 0 0.00229938 0 0 NTRK3 4916 broad.mit.edu 37 15 88476406 88476406 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:88476406C>T uc002bme.2 - 15 2032 c.1726G>A c.(1726-1728)Gat>Aat p.D576N NTRK3_uc002bmh.2_Missense_Mutation_p.D568N|NTRK3_uc002bmf.2_Missense_Mutation_p.D576N|NTRK3_uc021sua.1_Missense_Mutation_p.D568N|NTRK3_uc010upl.1_Missense_Mutation_p.D478N|NTRK3_uc010bnh.1_Missense_Mutation_p.D568N NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA. 576 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.D576N(3) ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) AGGGTGGGATCCTTCAGGGCC 0.562000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 7 20 0 0 0.00047179 0 0 UGT2A1 10941 broad.mit.edu 37 4 70512659 70512659 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:70512659C>T uc011caq.2 - 1 820 c.704G>A c.(703-705)aGt>aAt p.S235N UGT2A1_uc010ihu.3_Missense_Mutation_p.S235N|UGT2A1_uc003hem.4_Missense_Mutation_p.S235N|UGT2A1_uc010iht.3_Missense_Mutation_p.S235N NM_001252274 NP_001239203 Q9Y4X1 UD2A1_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA. 235 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 TAAAGCTTTACTATAGTATGA 0.323000 19 9 0 0 0.000274275 0 0 MMRN1 22915 broad.mit.edu 37 4 90849068 90849068 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:90849068G>A uc003hst.3 + 4 1149 c.1078G>A c.(1078-1080)Gaa>Aaa p.E360K MMRN1_uc010iku.3_Missense_Mutation_p.E326K|MMRN1_uc011cds.2_Missense_Mutation_p.E102K NM_007351 NP_031377 Q13201 MMRN1_HUMAN Homo sapiens multimerin 1 (MMRN1), mRNA. 360 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) CTCCTCCCTAGAAGGAAAAGT 0.338000 64 26 0 0 0.000878237 0 0 FAM75E1 286234 broad.mit.edu 37 9 90502037 90502037 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:90502037G>A uc004app.4 + 3 2670 c.2635G>A c.(2635-2637)Gcc>Acc p.A879T FAM75E1_uc004apo.1_Missense_Mutation_p.A691T NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA. 879 integral to membrane TACCCCCTGGGCCTCCTGGGT 0.562000 23 16 0 0 0.000566183 0 0 COL5A1 1289 broad.mit.edu 37 9 137623417 137623417 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:137623417G>A uc004cfe.3 + 7 1622 c.1240G>A c.(1240-1242)Gag>Aag p.E414K NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 414 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GAACCTTGACGAGAActacta 0.622000 88 36 0 0 0.00111076 0 0 DNAH8 1769 broad.mit.edu 37 6 38705606 38705606 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:38705606G>A uc021yzh.1 + 6 1083 c.974G>A c.(973-975)gGa>gAa p.G325E DNAH8_uc003ooe.2_Missense_Mutation_p.G108E 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 AGTATTGAGGGAACAGTGAAG 0.264000 53 30 0 0 0.0024448 0 0 NHSL2 340527 broad.mit.edu 37 X 71359742 71359742 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:71359742G>A uc011mqa.2 + 5 2344 c.2344G>A c.(2344-2346)Gat>Aat p.D782N NHSL2_uc004eak.1_Missense_Mutation_p.D416N|NHSL2_uc010nli.2_Missense_Mutation_p.D551N NM_001013627 NP_001013649 F5H593 F5H593_HUMAN Homo sapiens NHS-like 2 (NHSL2), mRNA. 782 NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1) 28 Renal(35;0.156) ACCCAACCTGGATCTGTCTGG 0.498000 3 13 0 0 0.000308642 0 0 SPRED1 161742 broad.mit.edu 37 15 38643461 38643461 + Missense_Mutation SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:38643461T>A uc001zka.4 + 6 1266 c.931T>A c.(931-933)Ttt>Att p.F311I NM_152594 NP_689807 Q7Z699 SPRE1_HUMAN Homo sapiens sprouty-related, EVH1 domain containing 1 (SPRED1), mRNA. 311 inactivation of MAPK activity|multicellular organismal development caveola|nucleus stem cell factor receptor binding kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244) CTCTGTGGTATTTAAGACGCA 0.388000 Legius syndrome 7 21 0 0 0.00121646 0 0 LRRC31 79782 broad.mit.edu 37 3 169578450 169578451 + Missense_Mutation DNP CC TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:169578450_169578451CC>TT uc003fgc.1 - 2 450_451 c.385_386GG>AA c.(385-387)gga>AAa p.G129K LRRC31_uc010hwp.1_Intron NM_024727 NP_079003 Q6UY01 LRC31_HUMAN Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA. 129 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) AAGGAGGGTTCCACCTACAAAA 0.450000 40 51 0 0 6.4e-05 0 0 DMRTC2 63946 broad.mit.edu 37 19 42353036 42353036 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:42353036C>T uc010xwe.2 + 4 704 c.621C>T c.(619-621)ccC>ccT p.P207P DMRTC2_uc002orr.1_Silent_p.P84P|DMRTC2_uc002ors.3_Silent_p.P207P NM_001040283 NP_001035373 Q8IXT2 DMRTD_HUMAN Homo sapiens DMRT-like family C2 (DMRTC2), mRNA. 207 Pro-rich. cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 CTCTGCCTCCCTTCCCTGGTA 0.527000 64 51 0 0 0.000781405 0 0 IRX6 79190 broad.mit.edu 37 16 55363139 55363139 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:55363139C>T uc002ehy.3 + 4 1782 c.1249C>T c.(1249-1251)Ctg>Ttg p.L417L IRX6_uc002ehx.3_Silent_p.L417L NM_024335 NP_077311 P78412 IRX6_HUMAN Homo sapiens iroquois homeobox 6 (IRX6), mRNA. 417 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CAAGTTTGCCCTGCAGGGACT 0.642000 55 22 0 0 0.00278032 0 0 PPFIA4 8497 broad.mit.edu 37 1 203024737 203024737 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:203024737C>T uc009xaj.3 + 20 2382 c.2382C>T c.(2380-2382)tcC>tcT p.S794S PPFIA4_uc010pqf.2_Silent_p.S376S|PPFIA4_uc001gyz.3_Silent_p.S163S|PPFIA4_uc001gza.3_Silent_p.S163S|PPFIA4_uc001gzb.1_5'Flank O75335 LIPA4_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA. 163 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 GCGGCCGCTCCACACCTAAGC 0.657000 55 16 0 0 0.00074312 0 0 SUN3 256979 broad.mit.edu 37 7 48046893 48046893 + Missense_Mutation SNP G A A rs139673000 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:48046893G>A uc003tof.3 - 5 458 c.361C>T c.(361-363)Cgt>Tgt p.R121C SUN3_uc010kyq.3_Missense_Mutation_p.R21C|SUN3_uc003tog.3_Missense_Mutation_p.R121C|SUN3_uc011kcf.2_Missense_Mutation_p.R109C NM_152782 NP_689995 Q8TAQ9 SUN3_HUMAN Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA. 121 integral to membrane p.R121C(2)|p.R121H(1) central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AGAATTTGACGAAAATTGTTT 0.403000 74 10 0 0 0.000442599 0 0 BTBD1 53339 broad.mit.edu 37 15 83718918 83718918 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:83718918C>T uc002bjn.3 - 2 774 c.571G>A c.(571-573)Gat>Aat p.D191N BTBD1_uc002bjo.3_Missense_Mutation_p.D191N NM_025238 NP_079514 Q9H0C5 BTBD1_HUMAN Homo sapiens BTB (POZ) domain containing 1 (BTBD1), transcript variant 1, mRNA. 191 cytoplasmic mRNA processing body|protein complex protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 10 all cancers(203;0.000186) TGAGGTTCATCAAATAATCGA 0.303000 10 29 0 0 0.00178596 0 0 ANK3 288 broad.mit.edu 37 10 61831209 61831209 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:61831209G>A uc001jky.3 - 36 9768 c.9430C>T c.(9430-9432)Ccc>Tcc p.P3144S ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 3144 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CTACCTTGGGGAGAAGGAGGT 0.433000 28 32 0 0 0.00209593 0 0 SYT16 83851 broad.mit.edu 37 14 62547804 62547804 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:62547804G>A uc001xfu.1 + 3 1443 c.1246G>A c.(1246-1248)Gag>Aag p.E416K SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR NM_031914 NP_114120 Q17RD7 SYT16_HUMAN Homo sapiens synaptotagmin XVI (SYT16), mRNA. 416 C2 1. p.R416H(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) CGTCTTCAGGGAGAAGGTCAC 0.572000 16 4 0 0 0.00024832 0 0 PKHD1 5314 broad.mit.edu 37 6 51944766 51944766 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:51944766C>T uc003pah.1 - 4 598 c.322G>A c.(322-324)Gaa>Aaa p.E108K PKHD1_uc003pai.3_Missense_Mutation_p.E108K NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 108 IPT/TIG 1; atypical. 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) AAGTATGCTTCCAGGAAGTAC 0.468000 47 24 0 0 0.000720815 0 0 MYLK4 340156 broad.mit.edu 37 6 2683260 2683260 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:2683260G>A uc003mty.4 - 6 979 c.682C>T c.(682-684)Ctg>Ttg p.L228L NM_001012418 NP_001012418 Q86YV6 MYLK4_HUMAN Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA. 228 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Ovarian(93;0.0412) all_hematologic(90;0.0897) CTTACCTTCAGGTCCAAGTGG 0.478000 98 30 0 0 0.00209593 0 0 MMP27 64066 broad.mit.edu 37 11 102573820 102573820 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:102573820C>T uc001phd.1 - 2 394 c.371G>A c.(370-372)cGa>cAa p.R124Q NM_022122 NP_071405 Q9H306 MMP27_HUMAN Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA. 124 collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) CACAGCAGCTCGTGCCATATC 0.358000 24 31 0 0 0.00058488 0 0 WNK3 65267 broad.mit.edu 37 X 54259292 54259292 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:54259292C>T uc004dtc.2 - 20 5229 c.4790G>A c.(4789-4791)cGa>cAa p.R1597Q WNK3_uc004dtd.2_Missense_Mutation_p.R1550Q NM_020922 NP_065973 Q9BYP7 WNK3_HUMAN Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA. 1550 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity p.R1597*(1) autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 GGGGCGGCTTCGAAGTTTGCT 0.418000 50 45 0 0 0.000781405 0 0 TAS2R9 50835 broad.mit.edu 37 12 10962038 10962038 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:10962038G>A uc001qyx.3 - 0 730 c.637C>T c.(637-639)Cga>Tga p.R213* TAS2R8_uc010shh.2_5'Flank NM_023917 NP_076406 Q9NYW1 TA2R9_HUMAN Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA. 213 sensory perception of taste integral to membrane taste receptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GCATGCAGTCGAATCTGCTTG 0.488000 2 12 0 0 0.000978159 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173883525 173883525 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:173883525G>A uc002uhv.4 + 21 2337 c.2150G>A c.(2149-2151)gGa>gAa p.G717E RAPGEF4_uc002uhw.4_Missense_Mutation_p.G573E NM_007023 NP_008954 Q8WZA2 RPGF4_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA. 717 G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) ATGAGTTCCGGAGGAGGTAAC 0.502000 66 60 0 0 0.000781405 0 0 AMPH 273 broad.mit.edu 37 7 38431535 38431535 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:38431535C>T uc003tgu.3 - 18 1908 c.1692G>A c.(1690-1692)gaG>gaA p.E564E AMPH_uc003tgv.3_Silent_p.E522E|AMPH_uc003tgt.3_Silent_p.E449E|AMPH_uc003tgw.1_Silent_p.E587E|AMPH_uc010kxl.1_Non-coding_Transcript NM_001635 NP_001626 P49418 AMPH_HUMAN Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA. 564 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane p.A563V(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 TCTCCTTGGGCTCTGCACCTA 0.592000 62 12 0 0 0.000978159 0 0 VWA5A 4013 broad.mit.edu 37 11 124012423 124012423 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:124012423A>G uc001pzu.3 + 15 2207 c.1998A>G c.(1996-1998)atA>atG p.I666M VWA5A_uc001pzt.3_Missense_Mutation_p.I666M NM_001130142 NP_055437 O00534 VMA5A_HUMAN Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA. 666 autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 GTGGGTTGATAAGTCACAAGG 0.448000 30 29 0 0 0.000692331 0 0 LAMA1 284217 broad.mit.edu 37 18 7050746 7050746 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:7050746C>T uc002knm.3 - 3 629 c.535G>A c.(535-537)Gaa>Aaa p.E179K LAMA1_uc010wzj.2_5'UTR NM_005559 NP_005550 P25391 LAMA1_HUMAN Homo sapiens laminin, alpha 1 (LAMA1), mRNA. 179 Laminin N-terminal. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGATCACTTCATCATCAGCC 0.507000 65 13 0 0 0.00136819 0 0 DNM1 1759 broad.mit.edu 37 9 131002264 131002264 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:131002264G>A uc022bob.1 + 14 1633 c.1546_splice c.e14-1 p.D516_splice DNM1_uc022bny.1_Splice_Site_p.D516_splice|DNM1_uc022bnz.1_Intron|DNM1_uc022boa.1_Intron|DNM1_uc004bub.1_5'Flank|DNM1_uc004buc.1_5'Flank NM_004408 NP_004399 Q05193 DYN1_HUMAN Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA. 516 receptor-mediated endocytosis microtubule GTP binding|GTPase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 CTCTTTGCAGGATGAGATTCT 0.602000 132 40 0 0 0.000781405 0 0 KCNH7 90134 broad.mit.edu 37 2 163241264 163241264 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:163241264C>T uc002uch.2 - 12 3125 c.2896G>A c.(2896-2898)Gat>Aat p.D966N NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA. 966 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TCTTCAAAATCGAGCCCAGAT 0.438000 34 29 0 0 0.00106085 0 0 SASH3 54440 broad.mit.edu 37 X 128924974 128924974 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:128924974G>A uc004euu.3 + 3 541 c.359G>A c.(358-360)aGc>aAc p.S120N SASH3_uc011muo.1_Missense_Mutation_p.S37N NM_018990 NP_061863 O75995 SASH3_HUMAN Homo sapiens SAM and SH3 domain containing 3 (SASH3), mRNA. 120 breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 12 AGCCTGGACAGCCCTGGCCCT 0.617000 3 55 0 0 0.000781405 0 0 OR4F15 390649 broad.mit.edu 37 15 102359018 102359018 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:102359018C>T uc010uts.2 + 0 629 c.629C>T c.(628-630)tCc>tTc p.S210F NM_001001674 NP_001001674 Q8NGB8 O4F15_HUMAN Homo sapiens olfactory receptor, family 4, subfamily F, member 15 (OR4F15), mRNA. 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10) 19 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TCTGTGGGCTCCTTTGTCTTG 0.473000 76 23 0 0 0.000720815 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35972511 35972511 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:35972511G>A uc001byx.3 - 2 626 c.368C>T c.(367-369)tCc>tTc p.S123F KIAA0319L_uc010ohw.2_Non-coding_Transcript|KIAA0319L_uc010ohx.1_Missense_Mutation_p.S123F NM_024874 NP_079150 Q8IZA0 K319L_HUMAN Homo sapiens KIAA0319-like (KIAA0319L), mRNA. 123 MANSC. cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GGAATTGGAGGAGTGTGTCCT 0.502000 101 28 0 0 0.00106085 0 0 GJA8 2703 broad.mit.edu 37 1 147381047 147381047 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:147381047C>T uc021ovm.1 + 0 965 c.965C>T c.(964-966)tCc>tTc p.S322F GJA8_uc001epu.2_Missense_Mutation_p.S322F NM_005267 NP_005258 P48165 CXA8_HUMAN Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA. 322 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) ACACTGCCTTCCTACGCTCAG 0.627000 37 5 0 0 0.00116845 0 0 DDI1 414301 broad.mit.edu 37 11 103908105 103908105 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:103908105G>A uc001phr.2 + 0 798 c.555G>A c.(553-555)gaG>gaA p.E185E PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA. 185 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) TGCTGATGGAGCAGCAAAGGG 0.567000 30 21 0 0 0.00152264 0 0 SULT1C3 442038 broad.mit.edu 37 2 108872050 108872051 + Missense_Mutation DNP CC TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:108872050_108872051CC>TT uc010ywo.2 + 3 422_423 c.422_423CC>TT c.(421-423)ccc>cTT p.P141L NM_001008743 NP_001008743 Q6IMI6 ST1C3_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA. 141 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 GCCAGAAATCCCAAGGATTGCC 0.421000 46 12 0 0 6.4e-05 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140237415 140237415 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140237415C>T uc003lhx.2 + 0 1782 c.1782C>T c.(1780-1782)cgC>cgT p.R594R PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Silent_p.R594R NM_018901 NP_061724 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA. 608 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTAAGGTGCGCGCAGTGGACG 0.672000 23 14 0 0 0.00185496 0 0 KIAA1217 56243 broad.mit.edu 37 10 24822121 24822121 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:24822121G>A uc001iru.4 + 15 3772 c.3369G>A c.(3367-3369)gaG>gaA p.E1123E KIAA1217_uc001irs.3_Silent_p.E1043E|KIAA1217_uc001irt.4_Silent_p.E1088E|KIAA1217_uc010qcy.2_Silent_p.E1087E|KIAA1217_uc010qcz.2_Silent_p.E1088E|KIAA1217_uc001irw.3_Silent_p.E806E|KIAA1217_uc001irz.3_Silent_p.E806E|KIAA1217_uc001irx.3_Silent_p.E806E|KIAA1217_uc001iry.3_Silent_p.E806E NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 1123 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 CAAAGGATGAGGAGGAAGAAG 0.547000 20 13 0 0 0.000308642 0 0 OR2F1 26211 broad.mit.edu 37 7 143657257 143657257 + Missense_Mutation SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:143657257A>C uc003wds.1 + 0 238 c.194A>C c.(193-195)aAc>aCc p.N65T NM_012369 NP_036501 Q13607 OR2F1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA. 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) TTTCTCACCAACCTCTCCCTT 0.502000 182 42 0 0 0.000781405 0 0 PDE6B 5158 broad.mit.edu 37 4 650810 650810 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:650810G>A uc003gap.3 + 8 1308 c.1255G>A c.(1255-1257)Gag>Aag p.E419K PDE6B_uc003gao.4_Missense_Mutation_p.E419K|PDE6B_uc011buy.2_Missense_Mutation_p.E140K|BC020343_uc003gaq.1_5'Flank NM_000283 NP_001138764 P35913 PDE6B_HUMAN Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA. 419 GAF 2. GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 GGTTCTCATGGAGGTAAGCAC 0.612000 35 12 0 0 0.000422831 0 0 MRPL20 55052 broad.mit.edu 37 1 1341166 1341166 + Missense_Mutation SNP G T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:1341166G>T uc010nyn.1 - 2 395 c.299C>A c.(298-300)cCa>cAa p.P100Q MRPL20_uc001afo.4_Intron NM_017971 NP_060441 Q9BYC9 RM20_HUMAN Homo sapiens mitochondrial ribosomal protein L20 (MRPL20), nuclear gene encoding mitochondrial protein, mRNA. 0 protein binding|rRNA binding endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GAATTTCAGTGGGACCCACAT 0.512000 234 8 0.000442599 0.00160545 0.000442599 1 0 KLF17 128209 broad.mit.edu 37 1 44595390 44595390 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:44595390G>A uc001clp.3 + 1 505 c.447G>A c.(445-447)ggG>ggA p.G149G KLF17_uc009vxf.1_Silent_p.G112G NM_173484 NP_775755 Q5JT82 KLF17_HUMAN Homo sapiens Kruppel-like factor 17 (KLF17), mRNA. 149 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.G149R(1) NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) CCTTCGGTGGGAATCTAAGGA 0.567000 20 19 0 0 0.00074312 0 0 RYR1 6261 broad.mit.edu 37 19 38959949 38959949 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:38959949C>T uc002oit.3 + 26 3691 c.3561C>T c.(3559-3561)ttC>ttT p.F1187F RYR1_uc002oiu.3_Silent_p.F1187F NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 1187 6 X approximate repeats.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) cACCAGGCTTCCTGCCCGTCT 0.647000 52 40 0 0 0.00148497 0 0 SELRC1 65260 broad.mit.edu 37 1 53153603 53153604 + Missense_Mutation DNP GG AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:53153603_53153604GG>AA uc001cui.2 - 2 524_525 c.484_485CC>TT c.(484-486)cca>TTa p.P162L NM_023077 NP_075565 Q96BR5 SELR1_HUMAN Homo sapiens Sel1 repeat containing 1 (SELRC1), mRNA. 162 binding breast(1)|lung(3)|prostate(1)|urinary_tract(1) 6 GGGAAAGCCTGGGGCACCCTGC 0.545000 41 54 0 0 6.4e-05 0 0 BAI1 575 broad.mit.edu 37 8 143569868 143569868 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:143569868G>A uc003ywm.3 + 13 2635 c.2452_splice c.e13+1 p.E818_splice NM_001702 NP_001693 O14514 BAI1_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA. 818 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GGGGCTGACAGGTGAGGGGCC 0.652000 38 7 0 0 0.000442599 0 0 PAFAH1B1 5048 broad.mit.edu 37 17 2568691 2568691 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:2568691C>T uc002fuw.4 + 2 626 c.58C>T c.(58-60)Cgt>Tgt p.R20C PAFAH1B1_uc010ckb.2_Intron NM_000430 NP_000421 P43034 LIS1_HUMAN Homo sapiens platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1), mRNA. 20 Interaction with NDE1 (By similarity).|Interaction with NDEL1 (By similarity).|LisH.|Required for self-association and interaction with PAFAH1B2 and PAFAH1B3 (By similarity). G2/M transition of mitotic cell cycle|acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1) 11 AGATTATCTTCGTTCAAATGG 0.274000 35 21 0 0 0.000720815 0 0 TRIM16L 147166 broad.mit.edu 37 17 18638748 18638748 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:18638748C>T uc010cqg.1 + 6 1362 c.1328C>T c.(1327-1329)cCg>cTg p.P443L TRIM16L_uc010vyf.1_Missense_Mutation_p.P395L|TRIM16L_uc002gug.1_Missense_Mutation_p.P341L|TRIM16L_uc002guh.1_Missense_Mutation_p.P341L|TRIM16L_uc002gui.1_Missense_Mutation_p.P341L|TRIM16L_uc010vyg.1_Missense_Mutation_p.P341L|TRIM16L_uc010vyh.1_3'UTR NM_001037330 NP_001032407 Q309B1 TR16L_HUMAN Homo sapiens tripartite motif containing 16-like (TRIM16L), mRNA. 341 cytoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 9 AAGCCAGCACCGTCCTTGGTG 0.522000 1 17 0 0 0.00106085 0 0 FCGR1B 2210 broad.mit.edu 37 1 120930086 120930086 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:120930086C>T uc001eip.3 - 3 565 c.515G>A c.(514-516)gGa>gAa p.G172E FCGR1B_uc010oxl.2_Non-coding_Transcript|FCGR1B_uc001eiq.3_Missense_Mutation_p.G80E|FCGR1B_uc009whr.2_Missense_Mutation_p.G172E|FCGR1B_uc009whs.2_Missense_Mutation_p.G173E NM_001017986 NP_001017986 Q92637 FCGRB_HUMAN Homo sapiens Fc fragment of IgG, high affinity Ib, receptor (CD64) (FCGR1B), transcript variant 1, mRNA. 172 Ig-like C2-type 2. interferon-gamma-mediated signaling pathway integral to membrane|plasma membrane IgG binding|immunoglobulin receptor activity breast(1)|endometrium(1)|lung(2) 4 all_neural(166;0.181) all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068) Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19) GCGATGCTTTCCCATGCCTGA 0.433000 191 30 0 0 0.0025221 0 0 SCN11A 11280 broad.mit.edu 37 3 38968341 38968341 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:38968341G>A uc021wvy.1 - 3 769 c.570C>T c.(568-570)ttC>ttT p.F190F NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 190 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GATCTCGAAGGAAAGAAAACT 0.368000 116 35 0 0 0.00283554 0 0 ECHS1 1892 broad.mit.edu 37 10 135179550 135179550 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:135179550G>A uc001lmu.3 - 5 740 c.669C>T c.(667-669)atC>atT p.I223I NM_004092 NP_004083 P30084 ECHM_HUMAN Homo sapiens enoyl CoA hydratase, short chain, 1, mitochondrial (ECHS1), nuclear gene encoding mitochondrial protein, mRNA. 223 fatty acid beta-oxidation mitochondrial matrix enoyl-CoA hydratase activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1) 10 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;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06) CTGCACACTGGATGGCTTCTT 0.448000 77 19 0 0 0.000958276 0 0 FKBP9L 360132 broad.mit.edu 37 7 55766705 55766705 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:55766705C>T uc010kzl.3 - 1 179 c.79G>A c.(79-81)Gaa>Aaa p.E27K Homo sapiens FK506 binding protein 9-like (FKBP9L), transcript variant 4, non-coding RNA. endometrium(1)|kidney(1)|lung(3) 5 CCTCTTCCTTCCTCTCCATAC 0.507000 18 14 0 0 0.00185496 0 0 SLFN11 91607 broad.mit.edu 37 17 33680930 33680930 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:33680930C>T uc002hjg.4 - 3 1594 c.1347G>A c.(1345-1347)ctG>ctA p.L449L SLFN11_uc010ctr.3_Silent_p.L449L|SLFN11_uc010ctp.3_Silent_p.L449L|SLFN11_uc010ctq.3_Silent_p.L449L|SLFN11_uc002hjh.4_Silent_p.L449L NM_152270 NP_689483 Q7Z7L1 SLN11_HUMAN Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA. 449 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCTGCAAGTTCAGGTCCACAG 0.473000 42 27 0 0 0.00209593 0 0 UBR1 197131 broad.mit.edu 37 15 43339438 43339438 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:43339438G>A uc001zqq.3 - 13 1655 c.1589C>T c.(1588-1590)cCt>cTt p.P530L UBR1_uc010udk.1_Missense_Mutation_p.P530L NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA. 530 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) CTCCCAATCAGGATCCACTTC 0.418000 57 118 0 0 0.000781405 0 0 ZNF236 7776 broad.mit.edu 37 18 74563788 74563788 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:74563788C>T uc002lmi.3 + 2 448 c.250C>T c.(250-252)Cat>Tat p.H84Y ZNF236_uc002lmj.3_Non-coding_Transcript|ZNF236_uc002lmk.1_Missense_Mutation_p.H84Y NM_007345 NP_031371 Q9UL36 ZN236_HUMAN Homo sapiens zinc finger protein 236 (ZNF236), mRNA. 84 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) CCTGACACTTCATAAATGCAC 0.428000 41 19 0 0 0.00152264 0 0 C15orf2 23742 broad.mit.edu 37 15 24922679 24922679 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:24922679C>T uc001ywo.3 + 0 2139 c.1665C>T c.(1663-1665)tcC>tcT p.S555S NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 555 cell differentiation|multicellular organismal development|spermatogenesis p.S555S(2) NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CAGTCATTTCCACTGTCACAA 0.488000 68 27 0 0 0.000878237 0 0 COL5A1 1289 broad.mit.edu 37 9 137653774 137653774 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:137653774G>A uc004cfe.3 + 18 2321 c.1939G>A c.(1939-1941)Gac>Aac p.D647N NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 647 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TTCCTAGGGTGACCCTGGTCC 0.567000 55 34 0 0 0.00170553 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107450509 107450509 + Missense_Mutation SNP G A A rs138821621 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:107450509G>A uc002tdq.3 - 2 1156 c.1037C>T c.(1036-1038)tCg>tTg p.S346L ST6GAL2_uc002tdr.3_Missense_Mutation_p.S346L|ST6GAL2_uc002tds.3_Missense_Mutation_p.S346L NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 346 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.S346L(4) 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 TCTTACCTGCGAATTAATGAT 0.393000 79 87 0 0 0.000781405 0 0 CLSTN2 64084 broad.mit.edu 37 3 140123497 140123497 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:140123497G>A uc003etn.3 + 3 716 c.526G>A c.(526-528)Gac>Aac p.D176N CLSTN2_uc003etm.2_Missense_Mutation_p.D176N NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN Homo sapiens calsyntenin 2 (CLSTN2), mRNA. 176 Cadherin 2. homophilic cell adhesion Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CAAGATCTATGACAGCATTCT 0.527000 HNSCC(16;0.037) 49 23 0 0 0.000586117 0 0 ADNP2 22850 broad.mit.edu 37 18 77895177 77895177 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:77895177C>T uc002lnw.3 + 3 2336 c.1881C>T c.(1879-1881)ccC>ccT p.P627P NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN Homo sapiens ADNP homeobox 2 (ADNP2), mRNA. 627 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) TGCCGGTTCCCCCTGGAGGCC 0.617000 48 12 0 0 0.00136819 0 0 SCN9A 6335 broad.mit.edu 37 2 167055909 167055909 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:167055909G>A uc010fpl.3 - 26 5548 c.5207C>T c.(5206-5208)tCc>tTc p.S1736F BC051759_uc002udp.3_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 1747 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) AACCAGGAAGGATATGATGAT 0.403000 120 135 0 0 0.000781405 0 0 WDR78 79819 broad.mit.edu 37 1 67340619 67340619 + Splice_Site SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:67340619A>T uc001dcx.3 - 5 700 c.644_splice c.e5-1 p.D215_splice WDR78_uc001dcy.3_Splice_Site_p.D215_splice|WDR78_uc009waw.3_Splice_Site|WDR78_uc009wax.3_Intron NM_024763 NP_079039 Q5VTH9 WDR78_HUMAN Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA. 215 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 TAACTTGCAAATCTAAAATAC 0.294000 18 11 0 0 0.00244969 0 0 CPA3 1359 broad.mit.edu 37 3 148586804 148586804 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:148586804G>A uc003ewm.3 + 2 299 c.247G>A c.(247-249)Gat>Aat p.D83N NM_001870 NP_001861 P15088 CBPA3_HUMAN Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA. 83 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) GTCTGCCTTGGATCAAAATAA 0.413000 30 17 0 0 0.00152264 0 0 NAA16 79612 broad.mit.edu 37 13 41949637 41949637 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:41949637C>T uc001uyf.2 + 19 2818 c.2494C>T c.(2494-2496)Cct>Tct p.P832S NAA16_uc010tfg.1_Non-coding_Transcript NM_024561 NP_078837 Q6N069 NAA16_HUMAN Homo sapiens N(alpha)-acetyltransferase 16, NatA auxiliary subunit (NAA16), transcript variant 1, mRNA. 832 N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2) 31 TAACCTGCTTCCTTTTACATC 0.408000 32 29 0 0 0.00209593 0 0 FANCG 2189 broad.mit.edu 37 9 35078706 35078706 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:35078706G>A uc003zwb.1 - 2 695 c.203C>T c.(202-204)cCc>cTc p.P68L FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Missense_Mutation_p.P68L NM_004629 NP_004620 O15287 FANCG_HUMAN Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA. 68 DNA repair|cell cycle checkpoint|mitochondrion organization mitochondrion|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1) 28 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CAGCTCCAAGGGAAGAACAGG 0.532000 """Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks 60 8 0 0 0.000442599 0 0 FMN2 56776 broad.mit.edu 37 1 240371584 240371584 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:240371584C>T uc010pye.2 + 5 3709 c.3484C>T c.(3484-3486)Ccc>Tcc p.P1162S FMN2_uc010pyd.2_Missense_Mutation_p.P1158S NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 1158 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GCCCCCACTTCCCGGAGCGGG 0.706000 6 3 0 0 6.4e-05 0 0 WNT5A 7474 broad.mit.edu 37 3 55504257 55504257 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:55504257C>T uc003dhn.3 - 4 1324 c.1006G>A c.(1006-1008)Gag>Aag p.E336K WNT5A_uc003dhm.3_Missense_Mutation_p.E321K|WNT5A_uc010hmw.3_Missense_Mutation_p.E321K|WNT5A_uc010hmx.3_Missense_Mutation_p.E247K NM_003392 NP_003383 P41221 WNT5A_HUMAN Homo sapiens wingless-type MMTV integration site family, member 5A (WNT5A), transcript variant 1, mRNA. 336 Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of BMP signaling pathway|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell chemotaxis|positive regulation of angiogenesis|positive regulation of cGMP metabolic process|positive regulation of cartilage development|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|wound healing extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204) CACATGAGCTCGCAGCCATCC 0.637000 72 22 0 0 0.00106085 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144852383 144852383 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:144852383G>A uc021ouh.1 - 43 7362 c.7060C>T c.(7060-7062)Ccc>Tcc p.P2354S NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_3'UTR|PDE4DIP_uc001elx.4_3'UTR|PDE4DIP_uc001elv.4_3'UTR NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 0 cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ACAAAAGGGGGACAGGCCCAC 0.557000 T PDGFRB MPD 56 13 0 0 0.00185496 0 0 AARS2 57505 broad.mit.edu 37 6 44271982 44271982 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:44271982G>A uc010jza.1 - 13 1946 c.1943C>T c.(1942-1944)cCt>cTt p.P648L TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA. 648 alanyl-tRNA aminoacylation mitochondrion ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) CTCTGTGCCAGGGCCCAGGGT 0.607000 OREG0017473 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 20 0 0 0.00121646 0 0 FABP1 2168 broad.mit.edu 37 2 88425751 88425751 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:88425751C>T uc002sst.2 - 1 298 c.184G>A c.(184-186)Gaa>Aaa p.E62K NM_001443 NP_001434 P07148 FABPL_HUMAN Homo sapiens fatty acid binding protein 1, liver (FABP1), mRNA. 62 organ morphogenesis kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 6 ACCGTGAATTCGTTTTGGATC 0.517000 151 111 0 0 0.000781405 0 0 ZNF831 128611 broad.mit.edu 37 20 57829200 57829200 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:57829200G>A uc002yan.3 + 4 4436 c.4436G>A c.(4435-4437)gGa>gAa p.G1479E NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 1479 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) GGGTCCAAAGGAACTTTTCCC 0.493000 87 39 0 0 0.00285205 0 0 THEMIS 387357 broad.mit.edu 37 6 128134490 128134491 + Missense_Mutation DNP TC AT AT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:128134490_128134491TC>AT uc011ebt.2 - 3 1444_1445 c.1295_1296GA>AT c.(1294-1296)gga>gAT p.G432D THEMIS_uc010kfa.3_Missense_Mutation_p.G335D|THEMIS_uc021zfa.1_Missense_Mutation_p.G432D|THEMIS_uc010kfb.3_Missense_Mutation_p.G397D NM_001164685 NP_001158157 Q8N1K5 THMS1_HUMAN Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA. 432 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 CTACAAAACCTCCTTCCATGTA 0.446000 23 18 0 0 6.4e-05 0 0 FBXL13 222235 broad.mit.edu 37 7 102495290 102495290 + Silent SNP G T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:102495290G>T uc003vaq.2 - 16 2080 c.1653C>A c.(1651-1653)tcC>tcA p.S551S FBXL13_uc010liq.1_Intron|FBXL13_uc010lir.1_Silent_p.S551S|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Intron NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA. 551 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 TTTTATGTCTGGAAAGCACAT 0.264000 4 15 1.49906e-05 5.45703e-05 0.00244969 1 0 SNRNP35 11066 broad.mit.edu 37 12 123950399 123950399 + Silent SNP C G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:123950399C>G uc021rfv.1 + 1 377 c.327C>G c.(325-327)gcC>gcG p.A109A SNRNP35_uc001ufb.1_Silent_p.A104A|SNRNP35_uc001ufc.1_Intron|SNRNP35_uc021rfw.1_Silent_p.A104A NM_180699 NP_073208 Q16560 U1SBP_HUMAN Homo sapiens small nuclear ribonucleoprotein 35kDa (U11/U12) (SNRNP35), transcript variant 3, mRNA. 104 RRM. mRNA processing U12-type spliceosomal complex RNA binding|nucleotide binding NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 8 AGGAGCGTGCCGTGATCAAAG 0.527000 42 76 0 0 0.000781405 0 0 OR4X2 119764 broad.mit.edu 37 11 48267404 48267404 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:48267404C>T uc001ngs.1 + 0 749 c.749C>T c.(748-750)tCt>tTt p.S250F NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA. 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 GTCTTCAACTCTCTGAGGCCT 0.522000 13 5 0 0 0.00116845 0 0 RAB27B 5874 broad.mit.edu 37 18 52544899 52544899 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:52544899G>A uc002lfr.3 + 1 326 c.83G>A c.(82-84)aGa>aAa p.R28K NM_004163 NP_004154 O00194 RB27B_HUMAN Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA. 28 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) TTTCTTTATAGATACACAGAT 0.413000 35 19 0 0 0.00074312 0 0 MGAM 8972 broad.mit.edu 37 7 141799458 141799458 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:141799458C>T uc003vwy.3 + 43 5161 c.5107C>T c.(5107-5109)Cct>Tct p.P1703S NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1703 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) CTTGCCAGCCCCTCTTGACCA 0.527000 60 28 0 0 0.00127121 0 0 IL31 386653 broad.mit.edu 37 12 122658458 122658458 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:122658458C>T uc001ubv.3 - 1 125 c.98G>A c.(97-99)cGa>cAa p.R33Q LRRC43_uc001ubw.4_Intron|LRRC43_uc009zxl.1_Intron NM_001014336 NP_001014358 Q6EBC2 IL31_HUMAN Homo sapiens interleukin 31 (IL31), mRNA. 33 extracellular space cytokine activity central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;6.93e-05)|Breast(359;0.0544) OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223) ATCACTTGGTCGTAGTAAACG 0.502000 29 51 0 0 0.000781405 0 0 OR2L13 284521 broad.mit.edu 37 1 248263173 248263173 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:248263173C>T uc001ids.3 + 2 833 c.496C>T c.(496-498)Ccc>Tcc p.P166S OR2L13_uc021pmc.1_Missense_Mutation_p.P166S NM_175911 NP_787107 Q8N349 OR2LD_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA. 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CCTTCATATTCCCTACTGCAG 0.458000 136 37 0 0 0.00148497 0 0 NYNRIN 57523 broad.mit.edu 37 14 24879333 24879333 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:24879333C>T uc001wpf.4 + 3 2651 c.2333C>T c.(2332-2334)cCc>cTc p.P778L NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA. 778 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 CTGAATACACCCTTCGAGCTG 0.632000 34 12 0 0 0.00136819 0 0 WARS2 10352 broad.mit.edu 37 1 119576822 119576822 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:119576822G>A uc001ehn.3 - 4 558 c.530C>T c.(529-531)cCt>cTt p.P177L WARS2_uc010oxf.2_Missense_Mutation_p.P83L|WARS2_uc001ehm.3_Missense_Mutation_p.P177L|WARS2_uc010oxg.2_Missense_Mutation_p.P120L|WARS2_uc010oxh.2_Silent_p.S148S|WARS2_uc010oxi.2_Silent_p.S54S NM_015836 NP_056651 Q9UGM6 SYWM_HUMAN Homo sapiens tryptophanyl tRNA synthetase 2, mitochondrial (WARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 177 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2) 15 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) CTCCCCAACAGGAACGTGTGT 0.443000 88 16 0 0 0.000566183 0 0 PPM1H 57460 broad.mit.edu 37 12 63225927 63225927 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:63225927G>A uc001srk.3 - 1 527 c.378C>T c.(376-378)ccC>ccT p.P126P NM_020700 NP_065751 Q9ULR3 PPM1H_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA. 126 phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1) 18 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) CTTCCCCATTGGGAAGGGAGG 0.552000 10 23 0 0 0.00106085 0 0 DNAH9 1770 broad.mit.edu 37 17 11872753 11872753 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:11872753G>A uc002gne.3 + 68 13438 c.13370G>A c.(13369-13371)gGa>gAa p.G4457E DNAH9_uc010coo.3_Missense_Mutation_p.G3675E|DNAH9_uc002gnf.3_Missense_Mutation_p.G769E NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 4457 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGTCAGCGGGGACCCACCTAC 0.517000 0 33 0 0 0.0024448 0 0 PAPPA 5069 broad.mit.edu 37 9 119115011 119115011 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:119115011G>A uc004bjn.3 + 15 4372 c.3991G>A c.(3991-3993)Gag>Aag p.E1331K PAPPA_uc011lxq.2_Missense_Mutation_p.E706K NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 1331 Sushi 2. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GACCTGCATGGAGGATGGGCT 0.587000 56 25 0 0 0.00106085 0 0 CNGB3 54714 broad.mit.edu 37 8 87738832 87738832 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:87738832G>A uc003ydx.3 - 2 313 c.265C>T c.(265-267)Caa>Taa p.Q89* NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 89 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 GCTGCATTTTGAGGGTCAGGG 0.413000 166 58 0 0 0.000781405 0 0 KRT32 3882 broad.mit.edu 37 17 39623483 39623483 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:39623483C>T uc002hwr.3 - 0 156 c.95G>A c.(94-96)cGg>cAg p.R32Q NM_002278 NP_002269 Q14532 K1H2_HUMAN Homo sapiens keratin 32 (KRT32), mRNA. 32 Head. epidermis development intermediate filament protein binding|structural molecule activity p.R32R(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) CAGCTCAGGCCGGCAGTTCAC 0.632000 50 31 0 0 0.00209593 0 0 COLEC10 10584 broad.mit.edu 37 8 120114604 120114604 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:120114604G>A uc003yoo.3 + 3 407 c.310G>A c.(310-312)Ggt>Agt p.G104S NM_006438 NP_006429 Q9Y6Z7 COL10_HUMAN Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA. 104 Collagen-like. collagen|cytoplasm mannose binding p.G104fs*39(1) endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00113) AGGGGAAAAAGGTTTGCTTGG 0.323000 20 6 0 0 0.000673444 0 0 TRPV6 55503 broad.mit.edu 37 7 142570143 142570143 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:142570143C>T uc003wbx.2 - 13 2106 c.1877G>A c.(1876-1878)gGa>gAa p.G626E TRPV6_uc003wbw.1_Missense_Mutation_p.G412E|TRPV6_uc010lou.1_Missense_Mutation_p.G497E NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA. 626 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) CCAGCGGTCTCCCAGGCCATA 0.647000 15 14 0 0 0.00244969 0 0 MAN2B1 4125 broad.mit.edu 37 19 12769085 12769085 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:12769085G>A uc002mub.2 - 8 1259 c.1183C>T c.(1183-1185)Cgg>Tgg p.R395W MAN2B1_uc010dyv.1_Missense_Mutation_p.R394W NM_000528 NP_000519 O00754 MA2B1_HUMAN Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA. 395 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AGGGCCGGCCGACTGGAAAAG 0.632000 38 27 0 0 0.00178596 0 0 DNM1 1759 broad.mit.edu 37 9 130982548 130982548 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:130982548C>T uc022bob.1 + 5 864 c.777C>T c.(775-777)ttC>ttT p.F259F DNM1_uc022bnx.1_Silent_p.F259F|DNM1_uc022bny.1_Silent_p.F259F|DNM1_uc022bnz.1_Silent_p.F259F|DNM1_uc022boa.1_Silent_p.F259F NM_004408 NP_004399 Q05193 DYN1_HUMAN Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA. 259 receptor-mediated endocytosis microtubule GTP binding|GTPase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 GAAAGTTCTTCCTCTCCCATC 0.557000 120 32 0 0 0.00058488 0 0 SMG1 23049 broad.mit.edu 37 16 18856882 18856882 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:18856882C>T uc002dfm.3 - 38 6451 c.6088G>A c.(6088-6090)Gct>Act p.A2030T SMG1_uc010bwb.3_Missense_Mutation_p.A1890T|SMG1_uc010bwa.3_Missense_Mutation_p.A761T|SMG1_uc021ted.1_Missense_Mutation_p.A328T NM_015092 NP_055907 Q96Q15 SMG1_HUMAN Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA. 2030 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 TCTGCAGGAGCCGCTGTGATA 0.438000 92 38 0 0 0.00195071 0 0 PLXNB2 23654 broad.mit.edu 37 22 50719522 50719522 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:50719522G>A uc003bkv.4 - 22 3852 c.3759C>T c.(3757-3759)ttC>ttT p.F1253F PLXNB2_uc003bkt.1_Silent_p.F45F|PLXNB2_uc003bku.1_Silent_p.F238F NM_012401 NP_036533 O15031 PLXB2_HUMAN Homo sapiens plexin B2 (PLXNB2), mRNA. 1253 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCCTACCTGTGAATTCCTTCT 0.662000 25 5 0 0 0.000602214 0 0 IL33 90865 broad.mit.edu 37 9 6256006 6256006 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:6256006C>T uc003zjt.3 + 7 729 c.651C>T c.(649-651)ttC>ttT p.F217F IL33_uc011lmg.2_Silent_p.F175F|IL33_uc011lmh.2_Silent_p.F91F|IL33_uc022bdf.1_Silent_p.F175F NM_033439 NP_254274 O95760 IL33_HUMAN Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA. 217 positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1) 16 Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167) GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105) ACCAGGCCTTCTTTGTCCTTC 0.403000 4 20 0 0 0.00047179 0 0 SLC2A14 144195 broad.mit.edu 37 12 7980222 7980222 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:7980222C>T uc010sgh.2 - 5 868 c.847G>A c.(847-849)Gat>Aat p.D283N SLC2A14_uc001qtk.3_Missense_Mutation_p.D268N|SLC2A14_uc001qtl.3_Missense_Mutation_p.D245N|SLC2A14_uc001qtm.3_Missense_Mutation_p.D245N|SLC2A14_uc010sgg.2_Missense_Mutation_p.D159N|SLC2A14_uc001qtn.3_Missense_Mutation_p.D268N|SLC2A14_uc001qto.3_Intron NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA. 268 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) GCACTCTCATCTTTCATCTCC 0.493000 41 14 0 0 0.00229938 0 0 SLC5A4 6527 broad.mit.edu 37 22 32631072 32631072 + Missense_Mutation SNP C T T rs140177779 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:32631072C>T uc003ami.3 - 7 675 c.673G>A c.(673-675)Gaa>Aaa p.E225K NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA. 225 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CCTCCAACTTCGTTAAATGCT 0.428000 43 84 0 0 0.000781405 0 0 CUZD1 50624 broad.mit.edu 37 10 124593228 124593228 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:124593228G>A uc001lgs.3 - 9 2562 c.1611C>T c.(1609-1611)ccC>ccT p.P537P CUZD1_uc001lgp.3_Silent_p.P256P|CUZD1_uc009yad.3_Silent_p.P256P|CUZD1_uc009yaf.3_Silent_p.P171P|CUZD1_uc001lgr.3_Silent_p.P256P|CUZD1_uc010qty.2_Silent_p.P256P|CUZD1_uc009yae.3_Silent_p.P256P|CUZD1_uc010qtz.2_Silent_p.P537P NM_022034 NP_071317 Q86UP6 CUZD1_HUMAN Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA. 537 cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) TCAGACGAATGGGTCCTATGA 0.418000 118 31 0 0 0.00209593 0 0 SEC14L3 266629 broad.mit.edu 37 22 30866032 30866032 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:30866032G>A uc003ahy.3 - 3 297 c.208C>T c.(208-210)Cat>Tat p.H70Y SEC14L3_uc003ahz.3_5'UTR|SEC14L3_uc003aia.3_Missense_Mutation_p.H11Y|SEC14L3_uc003aib.3_Missense_Mutation_p.H11Y NM_174975 NP_777635 Q9UDX4 S14L3_HUMAN Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA. 70 integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) TCAAGGATATGGTCAATATCC 0.537000 156 155 0 0 0.000781405 0 0 KLHL4 56062 broad.mit.edu 37 X 86888766 86888766 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:86888766G>A uc004efa.2 + 7 1749 c.1567G>A c.(1567-1569)Gga>Aga p.G523R KLHL4_uc004efb.2_Missense_Mutation_p.G523R NM_057162 NP_476503 Q9C0H6 KLHL4_HUMAN Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA. 523 cytoplasm|microtubule cytoskeleton|nucleolus actin binding p.G523G(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 CACTCTTGAAGGACCAATGTA 0.403000 19 13 0 0 0.000422831 0 0 OSMR 9180 broad.mit.edu 37 5 38886271 38886271 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:38886271C>T uc003jln.2 + 6 1372 c.970C>T c.(970-972)Ctt>Ttt p.L324F OSMR_uc003jlm.2_Missense_Mutation_p.L324F NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 324 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TGTCAATATCCTTTTTAACCT 0.403000 40 15 0 0 0.000566183 0 0 TADA3 10474 broad.mit.edu 37 3 9831419 9831419 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:9831419G>A uc003bsx.1 - 2 984 c.436C>T c.(436-438)Ccc>Tcc p.P146S TADA3_uc010hcn.1_Missense_Mutation_p.P146S|TADA3_uc003bsy.3_Missense_Mutation_p.P146S|TTLL3_uc003btb.2_5'Flank|TTLL3_uc003bta.2_5'Flank|TTLL3_uc003bsz.2_5'Flank|TTLL3_uc003btd.4_5'Flank|TTLL3_uc003btc.2_5'Flank NM_006354 NP_006345 O75528 TADA3_HUMAN Homo sapiens transcriptional adaptor 3 (TADA3), transcript variant 1, mRNA. 146 estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 16 TCATTTTTGGGGATCCGTGGC 0.587000 82 64 0 0 0.000781405 0 0 GNB5 10681 broad.mit.edu 37 15 52446245 52446245 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:52446245G>A uc002abt.1 - 3 332 c.267C>T c.(265-267)gcC>gcT p.A89A GNB5_uc002abr.1_Silent_p.A47A|GNB5_uc002abs.1_Silent_p.A47A|GNB5_uc002abu.3_Silent_p.A47A NM_016194 NP_057278 O14775 GBB5_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), beta 5 (GNB5), transcript variant 2, mRNA. 89 heterotrimeric G-protein complex GTPase activity|signal transducer activity large_intestine(1)|lung(1) 2 all cancers(107;0.0163) ACTGCCCCAGGGCCTCCACCC 0.572000 13 6 0 0 0.00198382 0 0 PID1 55022 broad.mit.edu 37 2 229890776 229890776 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:229890776C>T uc002vpr.4 - 2 363 c.325G>A c.(325-327)Ggc>Agc p.G109S PID1_uc002vps.4_Missense_Mutation_p.G107S|PID1_uc002vpt.4_Missense_Mutation_p.G76S|PID1_uc002vpu.4_Missense_Mutation_p.G27S NM_001100818 NP_001094288 Q7Z2X4 PCLI1_HUMAN Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA. 109 PID. cytoplasm breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) TCTGTGCAGCCTGACAAAAAC 0.532000 62 24 0 0 0.000720815 0 0 BCL9 607 broad.mit.edu 37 1 147096628 147096628 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:147096628C>T uc001epq.3 + 9 4889 c.4149C>T c.(4147-4149)tcC>tcT p.S1383S BCL9_uc010ozr.1_Silent_p.S1297S NM_004326 NP_004317 O00512 BCL9_HUMAN Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA. 1383 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) TGATGATGTCCATGCAGGGCA 0.627000 T """IGH@, IGL@""" B-ALL 37 14 0 0 0.00244969 0 0 ABP1 26 broad.mit.edu 37 7 150558147 150558147 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:150558147C>T uc003why.1 + 5 6324 c.2106C>T c.(2104-2106)ttC>ttT p.F702F ABP1_uc003whz.1_Silent_p.F702F|ABP1_uc003wia.1_Silent_p.F721F NM_001091 NP_001082 P19801 ABP1_HUMAN Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA. 702 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) TCAACTTCTTCCCAGAGGACC 0.617000 44 22 0 0 0.00278032 0 0 C1orf144 26099 broad.mit.edu 37 1 16721659 16721659 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:16721659C>T uc010ocb.1 + 3 550 c.373C>T c.(373-375)Cgt>Tgt p.R125C C1orf144_uc001aym.4_3'UTR|C1orf144_uc001ayi.4_3'UTR|C1orf144_uc001ayk.4_3'UTR|C1orf144_uc021ogn.1_5'Flank NM_015609 NP_056424 Q7Z422 CA144_HUMAN Homo sapiens chromosome 1 open reading frame 144 (C1orf144), transcript variant 2, mRNA. 0 cervix(1)|lung(1)|ovary(1)|urinary_tract(1) 4 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;0.0181)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.12e-05)|Kidney(64;0.00018)|KIRC - Kidney renal clear cell carcinoma(64;0.00267)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) AAGATGCCGCCGTTGCTGCCG 0.572000 22 5 0 0 0.00116845 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15880414 15880414 + RNA SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:15880414C>T uc002nbo.3 - 7 c.1281G>A Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA. TCTTTAGGATCGCGGTCCTTC 0.562000 66 18 0 0 0.00152264 0 0 DNMT3B 1789 broad.mit.edu 37 20 31394046 31394046 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:31394046C>T uc002wyc.3 + 21 2654 c.2333C>T c.(2332-2334)tCg>tTg p.S778L DNMT3B_uc002wyd.3_Missense_Mutation_p.S758L|DNMT3B_uc002wye.3_Intron|DNMT3B_uc010ztz.2_Intron|DNMT3B_uc010zua.2_Intron|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Intron|DNMT3B_uc002wyf.3_Missense_Mutation_p.S770L|DNMT3B_uc002wyg.3_Intron|DNMT3B_uc010geg.3_Intron|DNMT3B_uc010geh.3_Non-coding_Transcript NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA. 778 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ACCACCAAGTCGAACTCGATC 0.448000 47 13 0 0 0.00185496 0 0 GABRA6 2559 broad.mit.edu 37 5 161119131 161119131 + Silent SNP G A A rs144044129 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:161119131G>A uc003lyu.2 + 7 1349 c.1011G>A c.(1009-1011)agG>agA p.R337R GABRA6_uc003lyv.2_Silent_p.R108R NM_000811 NP_000802 Q16445 GBRA6_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA. 337 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity p.R337R(2) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGGCCAAAAGGAAGGCACAGT 0.418000 TCGA Ovarian(5;0.080) 48 24 0 0 0.000586117 0 0 CCKAR 886 broad.mit.edu 37 4 26483310 26483310 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:26483310G>A uc003gse.1 - 4 1390 c.1237C>T c.(1237-1239)Ctg>Ttg p.L413L NM_000730 NP_000721 P32238 CCKAR_HUMAN Homo sapiens cholecystokinin A receptor (CCKAR), mRNA. 413 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) AACCTGGACAGAGAGGCTCCT 0.657000 71 35 0 0 0.000692331 0 0 CNKSR3 154043 broad.mit.edu 37 6 154567812 154567812 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:154567812C>T uc021zhc.1 - 14 2047 c.1542G>A c.(1540-1542)aaG>aaA p.K514K OPRM1_uc003qpt.1_Intron|CNKSR3_uc003qpw.3_Silent_p.K53K|CNKSR3_uc003qpx.3_Silent_p.K52K|CNKSR3_uc010kjh.3_Silent_p.K53K|CNKSR3_uc021zhd.1_Silent_p.K97K|CNKSR3_uc021zhe.1_Intron NM_173515 NP_775786 Q6P9H4 CNKR3_HUMAN Homo sapiens CNKSR family member 3 (CNKSR3), mRNA. 292 DUF1170. negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 15 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) TTCCCTTTTCCTTTTTCTTAT 0.438000 24 18 0 0 0.00152264 0 0 DDX27 55661 broad.mit.edu 37 20 47845304 47845304 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:47845304C>T uc002xuh.3 + 7 913 c.852C>T c.(850-852)ccC>ccT p.P284P NM_017895 NP_060365 Q96GQ7 DDX27_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA. 284 Helicase ATP-binding. nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TTTATAAACCCCGCCAGGCTC 0.577000 140 43 0 0 0.000680045 0 0 DGKG 1608 broad.mit.edu 37 3 186015231 186015231 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:186015231C>T uc003fqa.3 - 4 889 c.352G>A c.(352-354)Gag>Aag p.E118K DGKG_uc003fqb.3_Missense_Mutation_p.E118K|DGKG_uc003fqc.3_Missense_Mutation_p.E118K|DGKG_uc011brx.2_Missense_Mutation_p.E118K NM_001346 NP_001337 P49619 DGKG_HUMAN Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA. 118 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 breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) GCACAGGCCTCGTCTGCTTTG 0.448000 75 32 0 0 0.00111076 0 0 ZNF292 23036 broad.mit.edu 37 6 87967944 87967944 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:87967944G>A uc003plm.4 + 7 4638 c.4597G>A c.(4597-4599)Gta>Ata p.V1533I NM_015021 NP_055836 O60281 ZN292_HUMAN Homo sapiens zinc finger protein 292 (ZNF292), mRNA. 1533 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) AAATCCAACTGTACCACCCCT 0.463000 5 11 0 0 0.000978159 0 0 SAGE1 55511 broad.mit.edu 37 X 134994479 134994479 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:134994479G>A uc004ezh.3 + 19 2689 c.2522_splice c.e19-1 p.N841_splice SAGE1_uc010nry.1_3'UTR|SAGE1_uc011mvv.2_Splice_Site_p.N465_splice NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN Homo sapiens sarcoma antigen 1 (SAGE1), mRNA. 841 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) AATATCTTCAGATTATGAAAG 0.313000 3 57 0 0 0.000781405 0 0 AFF2 2334 broad.mit.edu 37 X 148037775 148037775 + Missense_Mutation SNP C G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:148037775C>G uc004fcp.3 + 10 2679 c.2200C>G c.(2200-2202)Cct>Gct p.P734A AFF2_uc004fcq.3_Missense_Mutation_p.P724A|AFF2_uc004fcr.3_Missense_Mutation_p.P695A|AFF2_uc011mxb.2_Missense_Mutation_p.P699A|AFF2_uc004fcs.3_Missense_Mutation_p.P701A|AFF2_uc011mxc.2_Missense_Mutation_p.P375A NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 734 RNA splicing|brain development|mRNA processing|regulation of RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CAAAGTCCTGCCTCCGTGCAT 0.468000 48 46 0 0 0.000781405 0 0 EMR2 30817 broad.mit.edu 37 19 14862260 14862260 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:14862260C>T uc002mzp.1 - 15 2468 c.2012G>A c.(2011-2013)gGa>gAa p.G671E EMR2_uc010dzs.1_Missense_Mutation_p.G130E|EMR2_uc010xnw.1_Missense_Mutation_p.G613E|EMR2_uc002mzo.1_Missense_Mutation_p.G660E|EMR2_uc002mzq.1_Missense_Mutation_p.G611E|EMR2_uc002mzr.1_Missense_Mutation_p.G622E|EMR2_uc002mzs.1_Missense_Mutation_p.G529E|EMR2_uc002mzt.1_Missense_Mutation_p.G567E|EMR2_uc002mzu.1_Missense_Mutation_p.G578E|EMR2_uc010xnx.1_Non-coding_Transcript|EMR2_uc010xny.1_Non-coding_Transcript NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA. 671 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 GGAAGGTGTTCCATAAAGGTG 0.483000 89 23 0 0 0.000586117 0 0 LRP2 4036 broad.mit.edu 37 2 170062083 170062083 + Missense_Mutation SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:170062083A>C uc002ues.3 - 40 7834 c.7621T>G c.(7621-7623)Ttc>Gtc p.F2541V NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 2541 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GGTACGCGGAAGTTTCCTCCC 0.488000 48 16 0 0 0.000566183 0 0 LTBP2 4053 broad.mit.edu 37 14 74978063 74978063 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:74978063G>A uc001xqa.3 - 18 3300 c.2913C>T c.(2911-2913)atC>atT p.I971I NM_000428 NP_000419 Q14767 LTBP2_HUMAN Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA. 971 Cys-rich.|EGF-like 7; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GGCATTCGTTGATATCTGCAA 0.572000 72 25 0 0 0.001512 0 0 ZNF425 155054 broad.mit.edu 37 7 148801022 148801022 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:148801022G>A uc003wfj.3 - 3 2074 c.1941C>T c.(1939-1941)ttC>ttT p.F647F NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN Homo sapiens zinc finger protein 425 (ZNF425), mRNA. 647 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) ACTGTTGAGTGAAACTTTTGC 0.537000 143 40 0 0 0.0025221 0 0 CALU 813 broad.mit.edu 37 7 128407644 128407644 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:128407644C>T uc022ald.1 + 6 1745 c.802C>T c.(802-804)Ccc>Tcc p.P268S CALU_uc022alg.1_Missense_Mutation_p.P186S|CALU_uc022alh.1_Missense_Mutation_p.P186S|CALU_uc022ali.1_Missense_Mutation_p.P108S|CALU_uc003vns.3_Missense_Mutation_p.P260S|CALU_uc003vnr.3_Missense_Mutation_p.P268S|CALU_uc003vnq.3_Missense_Mutation_p.P260S|CALU_uc022ale.1_Intron|CALU_uc022alf.1_Missense_Mutation_p.P109S NM_001199672 NP_001186601 O43852 CALU_HUMAN Homo sapiens calumenin (CALU), transcript variant 4, mRNA. 260 EF-hand 6. platelet activation|platelet degranulation Golgi apparatus|extracellular region|melanosome|sarcoplasmic reticulum lumen calcium ion binding|protein binding kidney(2)|large_intestine(3)|lung(5) 10 CTGGATCCTTCCCTCAGACTA 0.502000 15 47 0 0 0.000781405 0 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77510080 77510080 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:77510080G>A uc001dhi.3 + 2 628 c.453G>A c.(451-453)agG>agA p.R151R ST6GALNAC5_uc010ori.2_Intron|ST6GALNAC5_uc009wbw.3_Non-coding_Transcript NM_030965 NP_112227 Q9BVH7 SIA7E_HUMAN Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (ST6GALNAC5), mRNA. 151 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 GCATCCAGAGGATCCTCCGCA 0.642000 34 32 0 0 0.001512 0 0 MST1P2 11209 broad.mit.edu 37 1 16974919 16974919 + RNA SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:16974919C>T uc010och.2 + 6 c.1379C>T MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. TGCTCCCGGCCCCGCCAGGGC 0.677000 78 5 0 0 0.00198382 0 0 GUCA1B 2979 broad.mit.edu 37 6 42156425 42156425 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:42156425G>A uc003orz.3 - 1 388 c.252C>T c.(250-252)ctC>ctT p.L84L NM_002098 NP_002089 Q9UMX6 GUC1B_HUMAN Homo sapiens guanylate cyclase activator 1B (retina) (GUCA1B), mRNA. 84 EF-hand 2. body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception plasma membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity large_intestine(3)|lung(3)|skin(2) 8 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177) CCCTCAGCACGAGATTCAGAG 0.552000 15 11 0 0 0.00136819 0 0 MUC16 94025 broad.mit.edu 37 19 9062912 9062912 + Silent SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9062912A>C uc002mkp.3 - 2 24738 c.24534T>G c.(24532-24534)acT>acG p.T8178T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 8180 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 TTTCTGTGGAAGTCTCTGGTG 0.507000 40 11 0 0 0.00244969 0 0 XIRP2 129446 broad.mit.edu 37 2 168074748 168074748 + Missense_Mutation SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:168074748A>T uc002udx.3 + 4 885 c.796A>T c.(796-798)Att>Ttt p.I266F XIRP2_uc010fpn.3_Missense_Mutation_p.I299F|XIRP2_uc010fpo.3_Missense_Mutation_p.I266F|XIRP2_uc002udy.3_Missense_Mutation_p.I91F|XIRP2_uc010fpq.3_Missense_Mutation_p.I44F|XIRP2_uc010fpr.3_Missense_Mutation_p.I44F NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 91 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 TGAGGACGAAATTACTTCTTC 0.398000 40 27 0 0 0.00127121 0 0 LRP2 4036 broad.mit.edu 37 2 170072834 170072834 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:170072834C>T uc002ues.3 - 34 5968 c.5755G>A c.(5755-5757)Gaa>Aaa p.E1919K NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 1919 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCCAGGTGTTCGAGGTTCCCA 0.502000 38 8 0 0 0.000442599 0 0 STRBP 55342 broad.mit.edu 37 9 125901857 125901857 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:125901857G>A uc004bns.3 - 13 1890 c.1448C>T c.(1447-1449)tCa>tTa p.S483L STRBP_uc004bnt.3_Missense_Mutation_p.S301L|STRBP_uc004bnu.3_Missense_Mutation_p.S469L|STRBP_uc004bnv.3_Missense_Mutation_p.S483L NM_018387 NP_001164608 Q96SI9 STRBP_HUMAN Homo sapiens spermatid perinuclear RNA binding protein (STRBP), transcript variant 1, mRNA. 483 multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2) 26 ATTATTGCTTGAGTTTGAAGA 0.323000 32 27 0 0 0.000878237 0 0 TTN 7273 broad.mit.edu 37 2 179600731 179600731 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179600731G>A uc021vsy.1 - 46 10935 c.10710C>T c.(10708-10710)ttC>ttT p.F3570F TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F231F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 4497 Ig-like 21. E -> K (in a breast pleomorphic lobular carcinoma sample; somatic mutation). 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) CTGTGCAGATGAACTTGGCTG 0.458000 50 23 0 0 0.000586117 0 0 WDR12 55759 broad.mit.edu 37 2 203762106 203762107 + Missense_Mutation DNP CG AT AT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:203762106_203762107CG>AT uc002uzl.3 - 4 1120_1121 c.370_371CG>AT c.(370-372)cgg>ATg p.R124M NM_018256 NP_060726 Q9GZL7 WDR12_HUMAN Homo sapiens WD repeat domain 12 (WDR12), mRNA. 124 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) PeBoW complex|nucleoplasm|preribosome, large subunit precursor protein binding endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1) 13 GGACCAGATCCGAGAAGTCTTA 0.381000 684 13 0 0 6.4e-05 0 0 RIN3 79890 broad.mit.edu 37 14 93154369 93154369 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:93154369G>A uc001yap.3 + 9 2882 c.2730G>A c.(2728-2730)gcG>gcA p.A910A RIN3_uc010auk.3_Silent_p.A572A|RIN3_uc001yaq.3_Silent_p.A835A NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA. 910 Ras-associating. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) CGCAGTGCGCGGAGAAGTTCG 0.721000 10 5 0 0 0.000602214 0 0 GABRB2 2561 broad.mit.edu 37 5 160721205 160721205 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:160721205C>T uc003lys.1 - 10 1640 c.1422G>A c.(1420-1422)ctG>ctA p.L474L GABRB2_uc011deh.1_Silent_p.L275L|GABRB2_uc003lyr.1_Silent_p.L436L|GABRB2_uc003lyt.1_Silent_p.L436L NM_021911 NP_068711 P47870 GBRB2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA. 474 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TGGTGATTTTCAGTTGGGAGG 0.502000 21 5 0 0 0.000602214 0 0 BAAT 570 broad.mit.edu 37 9 104125001 104125001 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:104125001G>A uc010mtd.3 - 3 1075 c.966C>T c.(964-966)ttC>ttT p.F322F BAAT_uc004bbd.4_Silent_p.F322F NM_001127610 NP_001692 Q14032 BAAT_HUMAN Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA. 322 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) CTCCTACAATGAAGAGGAATT 0.468000 80 21 0 0 0.00278032 0 0 PCSK5 5125 broad.mit.edu 37 9 78973651 78973651 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:78973651G>A uc004akc.2 + 36 5934 c.5396G>A c.(5395-5397)aGc>aAc p.S1799N NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 616 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 TATAGAGAGAGCACCAGCTTT 0.512000 112 78 0 0 0.000781405 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20858930 20858930 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:20858930C>T uc010sii.2 + 4 674 c.319C>T c.(319-321)Cac>Tac p.H107Y SLCO1C1_uc010sij.2_Missense_Mutation_p.H107Y|SLCO1C1_uc009zip.3_Intron|SLCO1C1_uc001rei.3_Missense_Mutation_p.H107Y|SLCO1C1_uc010sik.2_5'UTR NM_001145946 NP_001139416 Q9NYB5 SO1C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA. 107 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) AGCCAAACTTCACAGGCCAAA 0.373000 106 57 0 0 0.000781405 0 0 ZNF12 7559 broad.mit.edu 37 7 6731743 6731743 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:6731743G>A uc003sqt.1 - 4 1384 c.830C>T c.(829-831)tCc>tTc p.S277F ZNF12_uc011jxa.1_Missense_Mutation_p.S115F|ZNF12_uc003sqs.1_Missense_Mutation_p.S239F NM_016265 NP_057349 P17014 ZNF12_HUMAN Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA. 277 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) TTTACAGAAGGATTTCCCACA 0.408000 20 71 0 0 0.000781405 0 0 PI4KAP1 728233 broad.mit.edu 37 22 20386754 20386754 + RNA SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:20386754G>A uc010gsf.1 - 11 c.1758C>T PI4KAP1_uc010gsg.2_Intron|PI4KAP1_uc011ahn.1_Intron Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1 (PI4KAP1), non-coding RNA. TTGAGGAGTGGAAAAGGACTC 0.562000 34 8 0 0 0.000274275 0 0 CXorf61 203413 broad.mit.edu 37 X 115593146 115593146 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:115593146G>A uc004eqj.1 - 1 224 c.104C>T c.(103-105)tCa>tTa p.S35L NM_001017978 NP_001017978 Q5H943 KKLC1_HUMAN Homo sapiens chromosome X open reading frame 61 (CXorf61), mRNA. 35 integral to membrane|plasma membrane breast(1)|large_intestine(3)|lung(8) 12 AAGAGCAGTTGAATTTGATGA 0.373000 25 18 0 0 0.00278032 0 0 FOXO3 2309 broad.mit.edu 37 6 108984964 108984964 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:108984964C>T uc003psk.2 + 2 1244 c.928C>T c.(928-930)Cgt>Tgt p.R310C FOXO3_uc003psm.2_Missense_Mutation_p.R310C|FOXO3_uc011ean.1_Missense_Mutation_p.R90C|FOXO3_uc010kdj.1_Missense_Mutation_p.R90C NM_201559 NP_963853 O43524 FOXO3_HUMAN Homo sapiens forkhead box O3 (FOXO3), transcript variant 2, mRNA. 310 PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 5; CAA04860). antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) GACGGACTTCCGTTCACGCAC 0.607000 8 7 0 0 0.00198382 0 0 TTC13 79573 broad.mit.edu 37 1 231060654 231060654 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:231060654G>A uc001huf.4 - 13 1696 c.1654C>T c.(1654-1656)Cga>Tga p.R552* TTC13_uc001hug.4_Nonsense_Mutation_p.R499*|TTC13_uc009xfj.3_Non-coding_Transcript|TTC13_uc009xfk.2_Nonsense_Mutation_p.R442* NM_024525 NP_078801 Q8NBP0 TTC13_HUMAN Homo sapiens tetratricopeptide repeat domain 13 (TTC13), transcript variant 1, mRNA. 552 binding p.R552*(2) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) CCATTCATTCGAACTTTCGAG 0.438000 151 44 0 0 0.000781405 0 0 CERKL 375298 broad.mit.edu 37 2 182412558 182412558 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:182412558G>A uc002unx.3 - 9 1329 c.1228C>T c.(1228-1230)Ccc>Tcc p.P410S CERKL_uc010frk.3_Intron|CERKL_uc002uny.3_Missense_Mutation_p.P384S|CERKL_uc010zfm.2_Missense_Mutation_p.P366S|CERKL_uc002unz.3_Missense_Mutation_p.P132S|CERKL_uc002uoa.3_Missense_Mutation_p.P315S|CERKL_uc002uob.3_Missense_Mutation_p.P132S|CERKL_uc002uoc.3_Missense_Mutation_p.P271S|CERKL_uc021vth.1_Missense_Mutation_p.P179S|CERKL_uc021vti.1_Missense_Mutation_p.P132S|CERKL_uc021vtj.1_Missense_Mutation_p.P87S|CERKL_uc021vtk.1_Missense_Mutation_p.P132S|CERKL_uc021vtl.1_Missense_Mutation_p.P87S|CERKL_uc021vtm.1_Missense_Mutation_p.P179S|CERKL_uc002uod.2_Missense_Mutation_p.P179S|CERKL_uc002uoe.3_3'UTR|CERKL_uc002unw.3_5'UTR NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA. 410 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis Golgi apparatus|endoplasmic reticulum|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) CCAGATTTGGGAGATCCCTGT 0.398000 131 35 0 0 0.00128727 0 0 DISP1 84976 broad.mit.edu 37 1 223179274 223179275 + Missense_Mutation DNP CG AT AT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:223179274_223179275CG>AT uc001hnu.2 + 9 4861_4862 c.4535_4536CG>AT c.(4534-4536)tcg>tAT p.S1512Y NM_032890 NP_116279 Q96F81 DISP1_HUMAN Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA. 1512 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) TTAACACACTCGGAACTTTCTG 0.361000 701 14 0 0 6.4e-05 0 0 GIMAP1-GIMAP5 100527949 broad.mit.edu 37 7 150439873 150439873 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:150439873G>A uc022apw.1 + 5 1398 c.1258G>A c.(1258-1260)Ggc>Agc p.G420S GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.G216S NM_001199577 NP_001186506 Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA. GGAGCGAGAGGGCTCCTTCCA 0.592000 59 20 0 0 0.00152264 0 0 KCNN3 3782 broad.mit.edu 37 1 154705510 154705510 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:154705510C>T uc021pah.1 - 4 1918 c.1604G>A c.(1603-1605)gGg>gAg p.G535E KCNN3_uc001ffo.3_Missense_Mutation_p.G215E|KCNN3_uc001ffp.3_Missense_Mutation_p.G520E NM_001204087 NP_001191016 Q9UGI6 KCNN3_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA. 525 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GACACCTTTCCCACAGTATGT 0.507000 64 23 0 0 0.00229938 0 0 ASB10 136371 broad.mit.edu 37 7 150883911 150883911 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:150883911G>A uc003wjm.1 - 0 568 c.307C>T c.(307-309)Cgt>Tgt p.R103C ASB10_uc003wjl.1_Missense_Mutation_p.R103C|ASB10_uc003wjn.1_Intron NM_001142459 NP_001135931 Q8WXI3 ASB10_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA. 103 intracellular signal transduction NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTCAGAGCACGGATGTTGAAG 0.632000 16 8 0 0 0.000274275 0 0 OR4N5 390437 broad.mit.edu 37 14 20612589 20612589 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:20612589G>A uc010tla.2 + 0 695 c.695G>A c.(694-696)gGa>gAa p.G232E NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA. 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TCCTCTGAAGGAAAGAGCAAG 0.493000 21 42 0 0 0.00148497 0 0 ARPP21 10777 broad.mit.edu 37 3 35729321 35729321 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:35729321G>A uc011axy.2 + 4 564 c.352G>A c.(352-354)Gat>Aat p.D118N ARPP21_uc003cga.3_Missense_Mutation_p.D118N|ARPP21_uc003cgb.3_Missense_Mutation_p.D118N|ARPP21_uc003cgf.3_5'Flank NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA. 118 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 AAAAGAAAAGGATAAAAACAA 0.353000 12 6 0 0 0.00198382 0 0 CACNA1E 777 broad.mit.edu 37 1 181767489 181767489 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:181767489G>A uc009wxt.3 + 47 6656 c.6461G>A c.(6460-6462)aGa>aAa p.R2154K CACNA1E_uc001gow.3_Missense_Mutation_p.R2111K|CACNA1E_uc009wxs.3_Missense_Mutation_p.R2092K NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 2154 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ACCCCAAGAAGAAGTCGTCGG 0.592000 108 18 0 0 0.00121646 0 0 LAMC3 10319 broad.mit.edu 37 9 133961098 133961098 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:133961098G>A uc004caa.1 + 24 4316 c.4218G>A c.(4216-4218)aaG>aaA p.K1406K LAMC3_uc010mze.1_Silent_p.K94K NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN Homo sapiens laminin, gamma 3 (LAMC3), mRNA. 1406 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) TGTTGGCCAAGGACAGTGCCA 0.637000 34 6 0 0 0.00116845 0 0 FAT4 79633 broad.mit.edu 37 4 126373056 126373056 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:126373056C>T uc003ifj.4 + 8 10885 c.10885C>T c.(10885-10887)Ccc>Tcc p.P3629S FAT4_uc011cgp.2_Missense_Mutation_p.P1927S|FAT4_uc003ifi.1_Missense_Mutation_p.P1107S NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 3629 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TAACTTGTTTCCCGGTGGGAT 0.443000 16 25 0 0 0.000878237 0 0 ANKRD45 339416 broad.mit.edu 37 1 173628299 173628299 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:173628299C>T uc001gja.1 - 1 320 c.259G>A c.(259-261)Gct>Act p.A87T ANKRD45_uc001gjb.4_Missense_Mutation_p.A87T NM_198493 NP_940895 Q5TZF3 ANR45_HUMAN Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA. 103 NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1) 12 CTTTGCCCAGCCATGCAAGCT 0.403000 134 32 0 0 0.0024448 0 0 CHAF1B 8208 broad.mit.edu 37 21 37785496 37785496 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:37785496C>T uc002yvj.3 + 11 1514 c.1376C>T c.(1375-1377)cCc>cTc p.P459L NM_005441 NP_005432 Q13112 CAF1B_HUMAN Homo sapiens chromatin assembly factor 1, subunit B (p60) (CHAF1B), mRNA. 459 DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2) 20 GTCAAAAGCCCCTTGCCGGGG 0.637000 28 10 0 0 0.000442599 0 0 TACR2 6865 broad.mit.edu 37 10 71166976 71166976 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:71166976G>A uc001jpn.2 - 3 1397 c.802C>T c.(802-804)Ctc>Ttc p.L268F TACR2_uc001jpm.2_Missense_Mutation_p.L56F NM_001057 NP_001048 P21452 NK2R_HUMAN Homo sapiens tachykinin receptor 2 (TACR2), mRNA. 268 excretion|muscle contraction integral to plasma membrane tachykinin receptor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 11 Clonidine(DB00575)|Octreotide(DB00104) ATGAAGTAGAGGTGGTAGGGC 0.537000 8 11 0 0 0.000978159 0 0 GCDH 2639 broad.mit.edu 37 19 13006835 13006835 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:13006835C>T uc002mvq.3 + 6 612 c.535C>T c.(535-537)Ctc>Ttc p.L179F GCDH_uc010xms.2_Missense_Mutation_p.L146F|GCDH_uc002mvp.3_Missense_Mutation_p.L179F|GCDH_uc010xmt.2_Silent_p.G24G|GCDH_uc010xmu.2_Missense_Mutation_p.L135F NM_000159 NP_000150 Q92947 GCDH_HUMAN Homo sapiens glutaryl-CoA dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 179 L -> R (in GA1). lysine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8) 19 CTGCTTCGGGCTCACAGAGCC 0.562000 94 31 0 0 0.001512 0 0 MID2 11043 broad.mit.edu 37 X 107169963 107169963 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:107169963C>T uc004enl.3 + 9 2441 c.1868C>T c.(1867-1869)tCc>tTc p.S623F MID2_uc004enk.3_Missense_Mutation_p.S593F NM_012216 NP_036348 Q9UJV3 TRIM1_HUMAN Homo sapiens midline 2 (MID2), transcript variant 1, mRNA. 623 B30.2/SPRY. centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 AAGAATGCCTCCTCATGGGTC 0.468000 15 17 0 0 0.000422831 0 0 ALS2 57679 broad.mit.edu 37 2 202568857 202568857 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:202568857G>A uc002uyo.3 - 32 5279 c.4923C>T c.(4921-4923)ttC>ttT p.F1641F ALS2_uc010ftl.3_Non-coding_Transcript NM_020919 NP_065970 Q96Q42 ALS2_HUMAN Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA. 1641 VPS9. cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 TCAAGGTGGTGAACATTATAC 0.368000 42 13 0 0 0.00185496 0 0 NBAS 51594 broad.mit.edu 37 2 15614280 15614280 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:15614280G>A uc002rcc.1 - 14 1536 c.1510C>T c.(1510-1512)Cca>Tca p.P504S NBAS_uc002rcd.1_Non-coding_Transcript NM_015909 NP_056993 A2RRP1 NBAS_HUMAN Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA. 504 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TTCCGTGGTGGTGCAAATCGC 0.453000 59 52 0 0 0.000781405 0 0 HNF4A 3172 broad.mit.edu 37 20 43058294 43058294 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:43058294G>A uc002xma.3 + 9 1503 c.1414G>A c.(1414-1416)Gaa>Aaa p.E472K HNF4A_uc002xlu.3_Missense_Mutation_p.E440K|HNF4A_uc002xlv.3_Missense_Mutation_p.E450K|HNF4A_uc010ggq.3_Missense_Mutation_p.E465K|HNF4A_uc002xlz.3_Missense_Mutation_p.E462K NM_000457 NP_000448 P41235 HNF4A_HUMAN Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA. 472 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CACCAAGCAGGAAGTTATCTA 0.632000 213 77 0 0 0.000781405 0 0 SYNPO2 171024 broad.mit.edu 37 4 119948498 119948498 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:119948498C>T uc010inb.3 + 2 1170 c.974C>T c.(973-975)tCc>tTc p.S325F SYNPO2_uc010ina.3_Missense_Mutation_p.S325F|SYNPO2_uc003icm.4_Missense_Mutation_p.S325F|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.S253F NM_133477 NP_597734 Q9UMS6 SYNP2_HUMAN Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA. 325 Z disc|nucleus 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TCTCTGGTATCCTTTGCCGTC 0.557000 29 11 0 0 0.00136819 0 0 WDR41 55255 broad.mit.edu 37 5 76736641 76736641 + Silent SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:76736641T>C uc003kff.1 - 8 1166 c.879A>G c.(877-879)gaA>gaG p.E293E WDR41_uc011csy.1_Silent_p.E235E|WDR41_uc011csz.1_Silent_p.E238E|WDR41_uc011cta.1_Non-coding_Transcript|WDR41_uc011ctb.1_Non-coding_Transcript NM_018268 NP_060738 Q9HAD4 WDR41_HUMAN Homo sapiens WD repeat domain 41 (WDR41), mRNA. 293 NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5) 14 all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059) OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40) TTTTTACCTCTTCATCACATG 0.323000 17 27 0 0 0.00106085 0 0 ADAM9 8754 broad.mit.edu 37 8 38913098 38913098 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:38913098C>T uc003xmr.3 + 13 1476 c.1398C>T c.(1396-1398)ttC>ttT p.F466F ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript NM_003816 NP_003807 Q13443 ADAM9_HUMAN Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA. 466 Disintegrin. PMA-inducible membrane protein ectodomain proteolysis|activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|integral to membrane|intrinsic to external side of plasma membrane SH3 domain binding|collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) TTCACTAGTTCCTTCCAGGAG 0.358000 21 14 0 0 0.000308642 0 0 XIRP1 165904 broad.mit.edu 37 3 39227007 39227007 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:39227007C>T uc003cjk.2 - 1 4159 c.3930G>A c.(3928-3930)aaG>aaA p.K1310K XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_5'UTR|XIRP1_uc021wvz.1_Silent_p.K1310K NM_194293 NP_919269 Q702N8 XIRP1_HUMAN Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA. 1310 Pro-rich. actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GTTTTGGGGTCTTTGTCTGTG 0.617000 83 28 0 0 0.00106085 0 0 OTOGL 283310 broad.mit.edu 37 12 80750274 80750274 + Missense_Mutation SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:80750274T>C uc001szd.3 + 46 5864 c.5858T>C c.(5857-5859)cTt>cCt p.L1953P OTOGL_uc021rba.1_5'UTR|OTOGL_uc009zsg.2_5'UTR NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CACAGTCCTCTTTCTTGCTGT 0.333000 53 20 0 0 0.00121646 0 0 SERPINA5 5104 broad.mit.edu 37 14 95053903 95053903 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:95053903C>T uc001ydm.2 + 2 414 c.204C>T c.(202-204)tcC>tcT p.S68S SERPINA5_uc010ave.2_Silent_p.S68S|SERPINA5_uc001ydn.1_Silent_p.S68S NM_000624 NP_000615 P05154 IPSP_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA. 68 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity p.S68F(1) endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) TCTTCTTCTCCCCTGTGAGCA 0.607000 43 9 0 0 0.000274275 0 0 PCDHB4 56131 broad.mit.edu 37 5 140501824 140501824 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140501824G>A uc003lip.1 + 0 244 c.244G>A c.(244-246)Gat>Aat p.D82N NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. 82 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCAGACTGGAGATTTGCTTCT 0.547000 39 18 0 0 0.000958276 0 0 ZNF304 57343 broad.mit.edu 37 19 57868827 57868827 + Silent SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:57868827T>C uc010etw.3 + 3 2119 c.1731T>C c.(1729-1731)ccT>ccC p.P577P ZNF304_uc010ygw.2_Silent_p.P530P|ZNF304_uc010etx.3_Silent_p.P488P NM_020657 NP_065708 Q9HCX3 ZN304_HUMAN Homo sapiens zinc finger protein 304 (ZNF304), mRNA. 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q576K(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1) 26 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) GAGCAAAGCCTTATGAGTGCA 0.453000 16 11 0 0 0.00185496 0 0 FADS3 3995 broad.mit.edu 37 11 61645658 61645658 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:61645658G>A uc001nsm.3 - 5 930 c.777C>T c.(775-777)ccC>ccT p.P259P NM_021727 NP_068373 Q9Y5Q0 FADS3_HUMAN Homo sapiens fatty acid desaturase 3 (FADS3), mRNA. 259 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GCTGGTTGTAGGGTAGGTATC 0.612000 28 24 0 0 0.00127121 0 0 PAK7 57144 broad.mit.edu 37 20 9538276 9538276 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:9538276G>A uc002wnl.2 - 7 2267 c.1722C>T c.(1720-1722)atC>atT p.I574I PAK7_uc002wnk.2_Silent_p.I574I|PAK7_uc002wnj.2_Silent_p.I574I|PAK7_uc010gby.1_Silent_p.I574I NM_020341 NP_817127 Q9P286 PAK7_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA. 574 Protein kinase. 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) TTGTCAGGAGGATGGAGTCAC 0.453000 14 15 0 0 0.000308642 0 0 FAT3 120114 broad.mit.edu 37 11 92533807 92533807 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:92533807G>A uc001pdj.4 + 8 7645 c.7628G>A c.(7627-7629)cGa>cAa p.R2543Q NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 2543 Cadherin 23. 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) GCCAAGGATCGATTCCTCATA 0.483000 TCGA Ovarian(4;0.039) 168 123 0 0 0.000781405 0 0 SLC41A2 84102 broad.mit.edu 37 12 105322023 105322023 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:105322023G>A uc001tla.3 - 0 450 c.283C>T c.(283-285)Cat>Tat p.H95Y NM_032148 NP_115524 Q96JW4 S41A2_HUMAN Homo sapiens solute carrier family 41, member 2 (SLC41A2), mRNA. 95 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 22 TTATTGGCATGAAAAGACTGC 0.413000 36 17 0 0 0.000958276 0 0 OR6T1 219874 broad.mit.edu 37 11 123813676 123813676 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:123813676G>A uc010sab.2 - 0 870 c.870C>T c.(868-870)ttC>ttT p.F290F NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA. 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 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;0.0401) TGCGGAGAGTGAAGATGAATG 0.512000 76 52 0 0 0.000781405 0 0 LTBP2 4053 broad.mit.edu 37 14 74967682 74967682 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:74967682C>T uc001xqa.3 - 35 5758 c.5371G>A c.(5371-5373)Ggt>Agt p.G1791S NM_000428 NP_000419 Q14767 LTBP2_HUMAN Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA. 1791 EGF-like 20; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TCGCAGTAACCATGGACACAG 0.587000 OREG0022805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 9 0 0 0.000673444 0 0 MDC1 9656 broad.mit.edu 37 6 30680194 30680194 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:30680194G>A uc003nrg.4 - 4 1965 c.1525C>T c.(1525-1527)Cac>Tac p.H509Y MDC1_uc003nrf.4_Missense_Mutation_p.H163Y|MDC1_uc011dmp.1_Missense_Mutation_p.H381Y|MDC1_uc003nrh.1_Missense_Mutation_p.H381Y|MDC1_uc003nri.2_Missense_Mutation_p.H509Y NM_014641 NP_055456 Q14676 MDC1_HUMAN Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA. 509 Required for nuclear localization (NLS1). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 CTCTCCAGGTGGATCCCAGGT 0.488000 Other conserved DNA damage response genes 76 34 0 0 0.000692331 0 0 DNAH5 1767 broad.mit.edu 37 5 13928280 13928280 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:13928280C>T uc003jfd.2 - 2 242 c.200G>A c.(199-201)aGa>aAa p.R67K DNAH5_uc003jfe.1_Non-coding_Transcript NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 67 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R67I(2) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTGATCAATTCTTTCAATCTG 0.318000 Kartagener syndrome 42 12 0 0 0.00185496 0 0 DSP 1832 broad.mit.edu 37 6 7584062 7584062 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:7584062G>A uc003mxp.1 + 23 6846 c.6567G>A c.(6565-6567)cgG>cgA p.R2189R DSP_uc003mxq.1_Silent_p.R1590R|DSP_uc021yle.1_Silent_p.R1746R NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2189 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGAAGGAACGGTGCAGAATCG 0.468000 84 23 0 0 0.00278032 0 0 SLC22A6 9356 broad.mit.edu 37 11 62747342 62747342 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:62747342C>T uc001nwk.3 - 6 1449 c.1116G>A c.(1114-1116)gtG>gtA p.V372V SLC22A6_uc001nwl.3_Silent_p.V372V|SLC22A6_uc001nwj.3_Silent_p.V372V|SLC22A6_uc001nwm.3_Silent_p.V372V NM_004790 NP_004781 Q4U2R8 S22A6_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA. 372 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CACCAAAGATCACCTGGATTA 0.567000 22 23 0 0 0.000586117 0 0 GDF3 9573 broad.mit.edu 37 12 7842921 7842921 + Silent SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:7842921A>G uc001qte.3 - 1 684 c.648T>C c.(646-648)ttT>ttC p.F216F NM_020634 NP_065685 Q9NR23 GDF3_HUMAN Homo sapiens growth differentiation factor 3 (GDF3), mRNA. 216 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 CTTCAGGCTGAAAATTCACCC 0.493000 47 16 0 0 0.000422831 0 0 CNGB1 1258 broad.mit.edu 37 16 57965772 57965772 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:57965772C>T uc002emt.2 - 16 1448 c.1383G>A c.(1381-1383)acG>acA p.T461T CNGB1_uc010cdh.2_Silent_p.T455T NM_001297 NP_001288 Q14028 CNGB1_HUMAN Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA. 461 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 GGTGCTGTTTCGTGGCAGGCA 0.547000 29 20 0 0 0.00278032 0 0 PAPPA 5069 broad.mit.edu 37 9 118949875 118949875 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:118949875C>T uc004bjn.3 + 1 1239 c.858C>T c.(856-858)ctC>ctT p.L286L PAPPA_uc011lxp.1_Silent_p.L79L|PAPPA_uc011lxq.2_Silent_p.L79L NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 286 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 AGCTCCTCCTCCAGGAGAACT 0.572000 71 14 0 0 0.00185496 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870663 51870663 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:51870663G>A uc002xwo.3 + 1 1553 c.666G>A c.(664-666)gcG>gcA p.A222A TSHZ2_uc021wex.1_Silent_p.A219A NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 222 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A222V(1)|p.A222T(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) AGTGCAGCGCGGCCTATGACA 0.557000 46 13 0 0 0.00185496 0 0 GLUL 2752 broad.mit.edu 37 1 182354924 182354925 + Missense_Mutation DNP CC AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:182354924_182354925CC>AA uc001gpa.2 - 4 816_817 c.573_574GG>TT c.(571-576)gcgggg>gcTTgg p.G192W GLUL_uc010pnt.2_5'Flank|GLUL_uc001gpb.2_Missense_Mutation_p.G192W|GLUL_uc001gpc.2_Missense_Mutation_p.G192W|GLUL_uc001gpd.2_Missense_Mutation_p.G192W NM_001033056 NP_002056 P15104 GLNA_HUMAN Homo sapiens glutamate-ammonia ligase (GLUL), transcript variant 3, mRNA. 192 cell proliferation|glutamine biosynthetic process|neurotransmitter uptake Golgi apparatus|cytosol|mitochondrion ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding p.A191A(2) endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 16 Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134) GCATTAGTCCCCGCAATCTTGA 0.520000 384 10 0 0 6.4e-05 0 0 PAPLN 89932 broad.mit.edu 37 14 73731413 73731413 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:73731413C>T uc010ttx.2 + 20 3267 c.3104C>T c.(3103-3105)tCa>tTa p.S1035L PAPLN_uc001xnw.4_Missense_Mutation_p.S1008L|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.S1019L|PAPLN_uc010arm.3_Missense_Mutation_p.S234L|PAPLN_uc010arn.3_Missense_Mutation_p.S235L NM_173462 NP_775733 O95428 PPN_HUMAN Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA. 1035 Ig-like C2-type 2. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) ATCCCCTCTTCACACCCACAG 0.657000 86 29 0 0 0.0024448 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634624 70634624 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:70634624C>T uc001xly.3 - 1 1270 c.516G>A c.(514-516)ggG>ggA p.G172G SLC8A3_uc001xlw.3_Silent_p.G172G|SLC8A3_uc001xlx.3_Silent_p.G172G|SLC8A3_uc001xlz.3_Silent_p.G172G|SLC8A3_uc010ara.3_Non-coding_Transcript NM_183002 NP_892114 P57103 NAC3_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA. 172 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) AGGCTGCACTCCCTACAATGG 0.493000 51 9 0 0 0.000673444 0 0 AMZ1 155185 broad.mit.edu 37 7 2740289 2740289 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:2740289G>A uc003smr.1 + 1 565 c.204G>A c.(202-204)ctG>ctA p.L68L AMZ1_uc003sms.1_Silent_p.L68L|AMZ1_uc011jwa.1_5'Flank NM_133463 NP_597720 Q400G9 AMZ1_HUMAN Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA. 68 metallopeptidase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 16 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) ACTGGCTCCTGAGCCGACCCG 0.667000 95 45 0 0 0.00285205 0 0 TNNI1 7135 broad.mit.edu 37 1 201384368 201384368 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:201384368G>A uc021phe.1 - 2 30 c.30C>T c.(28-30)atC>atT p.I10I TNNI1_uc021phd.1_5'UTR|TNNI1_uc001gwo.1_Non-coding_Transcript|TNNI1_uc001gwp.3_5'UTR NM_003281 NP_003272 P19237 TNNI1_HUMAN Homo sapiens troponin I type 1 (skeletal, slow) (TNNI1), mRNA. 10 Involved in binding TNC. muscle filament sliding|regulation of striated muscle contraction cytosol|troponin complex actin binding|tropomyosin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 8 GGGAGGCAGTGATCTTGGGTT 0.587000 46 9 0 0 0.000442599 0 0 ATXN7 6314 broad.mit.edu 37 3 63973943 63973944 + Missense_Mutation DNP CC TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:63973943_63973944CC>TT uc003dlv.3 + 8 1857_1858 c.1304_1305CC>TT c.(1303-1305)tcc>tTT p.S435F ATXN7_uc003dlw.4_Missense_Mutation_p.S435F|ATXN7_uc021wzy.1_Missense_Mutation_p.S435F|ATXN7_uc011bfn.2_Missense_Mutation_p.S290F NM_000333 NP_000324 O15265 ATX7_HUMAN Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA. 435 Pro-rich. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding p.S435S(3) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) GTGATTCCTTCCGAATCAAAGC 0.564000 110 50 0 0 6.4e-05 0 0 EPN1 29924 broad.mit.edu 37 19 56203253 56203253 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:56203253C>T uc002qlw.3 + 6 1238 c.896C>T c.(895-897)cCc>cTc p.P299L EPN1_uc002qlv.3_Missense_Mutation_p.P274L|EPN1_uc010etd.3_Missense_Mutation_p.P299L|EPN1_uc002qlx.3_Missense_Mutation_p.P385L NM_001130072 NP_001123544 Q9Y6I3 EPN1_HUMAN Homo sapiens epsin 1 (EPN1), transcript variant 2, mRNA. 299 8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) TGGGGCGGCCCCCCTGTCCCT 0.756000 24 6 0 0 0.00116845 0 0 ALK 238 broad.mit.edu 37 2 29519850 29519850 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:29519850C>T uc002rmy.3 - 8 2673 c.1721G>A c.(1720-1722)gGg>gAg p.G574E NM_004304 NP_004295 Q9UM73 ALK_HUMAN Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA. 574 MAM 2. 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) TTGCTCCTTCCCGGTTTTGTT 0.567000 """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 16 0 0 0.000422831 0 0 SEZ6 124925 broad.mit.edu 37 17 27308582 27308582 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:27308582G>A uc002hdp.2 - 1 725 c.531C>T c.(529-531)ccC>ccT p.P177P SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Silent_p.P177P|SEZ6_uc002hdq.1_Silent_p.P52P|SEZ6_uc010crz.1_Silent_p.P177P NM_178860 NP_849191 Q53EL9 SEZ6_HUMAN Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA. 177 Pro-rich. integral to membrane|plasma membrane p.P176T(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) AGGCTCTGCTGGGGGGTGTAG 0.642000 16 5 0 0 0.000602214 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525557 176525557 + Silent SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:176525557C>A uc001gkz.3 + 1 1263 c.99C>A c.(97-99)tcC>tcA p.S33S PAPPA2_uc001gky.1_Silent_p.S33S|PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 33 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GCAAGAAATCCTTGGTTGAGA 0.527000 79 52 2.29192e-23 8.39736e-23 0.000781405 1 0 ZADH2 284273 broad.mit.edu 37 18 72913569 72913569 + Nonsense_Mutation SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:72913569A>C uc002llx.3 - 1 1204 c.936T>G c.(934-936)taT>taG p.Y312* ZADH2_uc010dqv.3_Nonsense_Mutation_p.Y189* NM_175907 NP_787103 Q8N4Q0 ZADH2_HUMAN Homo sapiens zinc binding alcohol dehydrogenase domain containing 2 (ZADH2), mRNA. 312 peroxisome oxidoreductase activity|zinc ion binding endometrium(3)|large_intestine(3)|lung(8)|skin(1) 15 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) TGGCTGCTTGATACTTAGAAA 0.527000 55 13 0 0 0.00185496 0 0 TTLL4 9654 broad.mit.edu 37 2 219602691 219602691 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:219602691G>A uc002viy.3 + 2 662 c.292G>A c.(292-294)Ggc>Agc p.G98S TTLL4_uc010zkl.1_5'UTR|TTLL4_uc010fvx.3_Missense_Mutation_p.G98S NM_014640 NP_055455 Q14679 TTLL4_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA. 98 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) TGTCATTGCAGGCCACAGCAG 0.567000 89 33 0 0 0.0024448 0 0 FBXO41 150726 broad.mit.edu 37 2 73491469 73491469 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:73491469G>A uc021vjh.1 - 4 1833 c.1743C>T c.(1741-1743)ttC>ttT p.F581F NM_001080410 NP_001073879 Q8TF61 FBX41_HUMAN Homo sapiens F-box protein 41 (FBXO41), mRNA. 581 intracellular protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1) 13 GGCGGGCCACGAAGCGCCAGT 0.632000 59 43 0 0 0.00285205 0 0 SULT2A1 6822 broad.mit.edu 37 19 48386958 48386958 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:48386958C>T uc002phr.2 - 1 361 c.221G>A c.(220-222)cGa>cAa p.R74Q NM_003167 NP_003158 Q06520 ST2A1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA. 74 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) CCAGGGTGATCGCTCCCAGAT 0.517000 50 11 0 0 0.000978159 0 0 SVEP1 79987 broad.mit.edu 37 9 113231282 113231282 + Missense_Mutation SNP T G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:113231282T>G uc010mtz.3 - 16 3435 c.3098A>C c.(3097-3099)aAg>aCg p.K1033T SVEP1_uc010mua.1_Missense_Mutation_p.K1033T NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 1033 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GGGGCAAAGCTTGCACTCAAG 0.443000 66 13 0 0 0.000308642 0 0 USP6 9098 broad.mit.edu 37 17 5066201 5066201 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:5066201G>A uc002gau.1 + 32 5168 c.2938G>A c.(2938-2940)Gat>Aat p.D980N USP6_uc002gav.1_Missense_Mutation_p.D980N|USP6_uc010ckz.1_Missense_Mutation_p.D663N NM_004505 NP_004496 P35125 UBP6_HUMAN Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA. 980 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CTGTAAAATTGATTGTGGGGA 0.393000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 7 115 0 0 0.000781405 0 0 ANKRD34A 284615 broad.mit.edu 37 1 145473767 145473767 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:145473767G>A uc021ouy.1 + 0 439 c.439G>A c.(439-441)Gat>Aat p.D147N ANKRD34A_uc001enq.1_Missense_Mutation_p.D147N NM_001039888 NP_001034977 Q69YU3 AN34A_HUMAN Homo sapiens ankyrin repeat domain 34A (ANKRD34A), mRNA. 147 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) CATCACCACCGATACCTCGCC 0.647000 47 18 0 0 0.000958276 0 0 PSMD1 5707 broad.mit.edu 37 2 231931703 231931703 + Missense_Mutation SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:231931703T>A uc002vrn.2 + 4 550 c.388T>A c.(388-390)Ttg>Atg p.L130M PSMD1_uc002vrm.2_Missense_Mutation_p.L130M|PSMD1_uc010fxu.2_5'UTR NM_002807 NP_002798 Q99460 PSMD1_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 (PSMD1), transcript variant 1, mRNA. 130 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4) 31 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) TGACCAGAGATTGGAAGGCAT 0.393000 22 11 0 0 0.00136819 0 0 SERPINB7 8710 broad.mit.edu 37 18 61471516 61471516 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:61471516C>T uc002ljl.3 + 7 886 c.790C>T c.(790-792)Cca>Tca p.P264S SERPINB7_uc002ljm.3_Missense_Mutation_p.P264S|SERPINB7_uc010xet.2_Missense_Mutation_p.P247S|SERPINB7_uc010dqg.3_Missense_Mutation_p.P264S NM_001040147 NP_003775 O75635 SPB7_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA. 264 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) ATGGACCAATCCAAGGCGAAT 0.328000 19 16 0 0 0.000422831 0 0 COL19A1 1310 broad.mit.edu 37 6 70890205 70890205 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:70890205G>A uc003pfc.1 + 43 2785 c.2668_splice c.e43-1 p.G890_splice NM_001858 NP_001849 Q14993 COJA1_HUMAN Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA. 890 Triple-helical region 5 (COL5). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 CCTTGCCAGGGAAAACCTGGT 0.488000 23 19 0 0 0.00121646 0 0 LOC401010 401010 broad.mit.edu 37 2 132201225 132201225 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:132201225G>A uc002tst.2 - 0 1243 c.777C>T c.(775-777)ttC>ttT p.F259F Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA. GGCACCACAGGAAGAGGCAGT 0.567000 23 5 0 0 0.000602214 0 0 GLP2R 9340 broad.mit.edu 37 17 9757905 9757905 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:9757905C>T uc002gmd.1 + 4 598 c.598C>T c.(598-600)Ctc>Ttc p.L200F NM_004246 NP_004237 O95838 GLP2R_HUMAN Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA. 200 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) TCTCACCCTCCTCTTGTTTCT 0.498000 49 50 0 0 0.000781405 0 0 KLF7 8609 broad.mit.edu 37 2 207988671 207988671 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:207988671G>A uc002vbz.1 - 1 882 c.560C>T c.(559-561)gCc>gTc p.A187V KLF7_uc002vca.1_Intron|KLF7_uc010zix.1_Missense_Mutation_p.A159V NM_003709 NP_003700 O75840 KLF7_HUMAN Homo sapiens Kruppel-like factor 7 (ubiquitous) (KLF7), mRNA. 187 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1) 11 LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173) AGCCGTCACGGCTGCTGCAGC 0.612000 78 20 0 0 0.00152264 0 0 VPS13B 157680 broad.mit.edu 37 8 100887729 100887729 + Silent SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:100887729C>A uc003yiv.3 + 61 12015 c.11904C>A c.(11902-11904)gcC>gcA p.A3968A VPS13B_uc003yiw.3_Silent_p.A3943A NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA. 3968 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GTCACCTGGCCCCCAGCTGTT 0.483000 29 48 2.43468e-25 8.92687e-25 0.000781405 1 0 MYLK3 91807 broad.mit.edu 37 16 46763512 46763512 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:46763512C>T uc002eei.4 - 5 1772 c.1656G>A c.(1654-1656)aaG>aaA p.K552K MYLK3_uc010vge.2_Silent_p.K211K|MYLK3_uc002eej.1_Silent_p.K211K NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA. 552 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) TCACCCGGTCCTTGGCGCTCT 0.612000 42 16 0 0 0.000958276 0 0 ANKRD34A 284615 broad.mit.edu 37 1 145474550 145474550 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:145474550G>A uc021ouy.1 + 0 1222 c.1222G>A c.(1222-1224)Ggc>Agc p.G408S LIX1L_uc001enr.3_5'Flank|ANKRD34A_uc001enq.1_Missense_Mutation_p.G408S NM_001039888 NP_001034977 Q69YU3 AN34A_HUMAN Homo sapiens ankyrin repeat domain 34A (ANKRD34A), mRNA. 408 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) GGAGCGGAGGGGCTCGGGGAC 0.682000 9 4 0 0 0.000602214 0 0 C1orf173 127254 broad.mit.edu 37 1 75036972 75036972 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:75036972G>A uc001dgg.3 - 13 4641 c.4422C>T c.(4420-4422)ttC>ttT p.F1474F NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 1474 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 ATCCTAATCGGAATTTTTCAG 0.567000 80 66 0 0 0.000781405 0 0 MTMR11 10903 broad.mit.edu 37 1 149905813 149905813 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:149905813G>A uc001etl.4 - 7 957 c.706C>T c.(706-708)Cct>Tct p.P236S MTMR11_uc001etm.2_Missense_Mutation_p.P164S|MTMR11_uc010pbm.1_Missense_Mutation_p.P208S|MTMR11_uc010pbn.1_Missense_Mutation_p.P78S NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA. 236 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) ATTCGGTTAGGGACCCAGAAG 0.478000 79 55 0 0 0.000781405 0 0 HMCN1 83872 broad.mit.edu 37 1 186014931 186014931 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:186014931A>G uc001grq.1 + 40 6645 c.6416A>G c.(6415-6417)aAa>aGa p.K2139R NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 2139 Ig-like C2-type 19. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ACTTGGTTAAAAGACGGCCAC 0.393000 28 34 0 0 0.0024448 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826539 43826539 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:43826539C>T uc010skx.2 - 19 2796 c.2796G>A c.(2794-2796)atG>atA p.M932I ADAMTS20_uc001rno.1_Missense_Mutation_p.M86I|ADAMTS20_uc001rnp.1_Missense_Mutation_p.M86I NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 932 TSP type-1 3. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TGGAATACTTCATGCAATGGA 0.408000 80 35 0 0 0.00111076 0 0 IL9R 3581 broad.mit.edu 37 X 155233513 155233513 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:155233513G>A uc004fnv.1 + 3 605 c.426G>A c.(424-426)cgG>cgA p.R142R IL9R_uc010nvn.2_Silent_p.R121R|IL9R_uc004fnu.1_Missense_Mutation_p.G187E NM_002186 NP_002177 Q01113 IL9R_HUMAN Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA. 142 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 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) ACCTGCCCCGGAGACACGGTG 0.617000 19 24 0 0 0.001512 0 0 KIAA2018 205717 broad.mit.edu 37 3 113378866 113378867 + Missense_Mutation DNP GA AT AT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:113378866_113378867GA>AT uc003eam.3 - 6 2073_2074 c.1662_1663TC>AT c.(1660-1665)attctt>atATtt p.L555F KIAA2018_uc003eal.3_Missense_Mutation_p.L499F NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN Homo sapiens KIAA2018 (KIAA2018), mRNA. 555 regulation of transcription, DNA-dependent membrane|nucleus DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity p.I554F(1) NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 GGTGGCTGAAGAATTATAACAT 0.431000 52 25 0 0 6.4e-05 0 0 GCG 2641 broad.mit.edu 37 2 163000608 163000608 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:163000608C>T uc002ucc.3 - 4 721 c.465G>A c.(463-465)atG>atA p.M155I NM_002054 NP_002045 P01275 GLUC_HUMAN Homo sapiens glucagon (GCG), mRNA. 155 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9) 14 Exenatide(DB01276)|Phentolamine(DB00692) GAATGGTGTTCATCTCATCAG 0.398000 41 14 0 0 0.000566183 0 0 MTRR 4552 broad.mit.edu 37 5 7897231 7897231 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:7897231C>T uc003jed.3 + 13 1934 c.1904C>T c.(1903-1905)tCc>tTc p.S635F MTRR_uc003jee.4_Missense_Mutation_p.S608F|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Non-coding_Transcript|MTRR_uc010ito.3_Non-coding_Transcript NM_024010 NP_076915 Q9UBK8 MTRR_HUMAN Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA. 635 methionine biosynthetic process cytosol FMN binding|NADP binding|[methionine synthase] reductase activity|flavin adenine dinucleotide binding|iron ion binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) CTAAAGGTTTCCTTCTCAAGA 0.438000 18 28 0 0 0.00106085 0 0 SELENBP1 8991 broad.mit.edu 37 1 151337081 151337081 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:151337081G>A uc010pcy.2 - 11 1613 c.1483C>T c.(1483-1485)Cca>Tca p.P495S SELENBP1_uc001exx.3_Missense_Mutation_p.P453S|SELENBP1_uc010pcz.2_Missense_Mutation_p.P391S|SELENBP1_uc001eya.3_Missense_Mutation_p.P389S NM_003944 NP_003935 Q13228 SBP1_HUMAN Homo sapiens selenium binding protein 1 (SELENBP1), mRNA. 453 protein transport cytosol|membrane|nucleolus protein binding|selenium binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GCAAGGGCTGGGCCAAGGGGC 0.567000 56 68 0 0 0.000781405 0 0 ZBTB43 23099 broad.mit.edu 37 9 129594916 129594917 + Missense_Mutation DNP TT AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:129594916_129594917TT>AA uc022bnm.1 + 0 128_129 c.128_129TT>AA c.(127-129)att>aAA p.I43K ZBTB43_uc004bql.3_Missense_Mutation_p.I43K|ZBTB43_uc010mxf.3_Missense_Mutation_p.I43K NM_014007 NP_054726 O43298 ZBT43_HUMAN Homo sapiens zinc finger and BTB domain containing 43 (ZBTB43), transcript variant 1, mRNA. 43 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 CAAGGCCACATTTTCCGGGCAC 0.465000 53 13 0 0 6.4e-05 0 0 TAF1L 138474 broad.mit.edu 37 9 32633142 32633142 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:32633142C>T uc003zrg.1 - 0 2526 c.2436G>A c.(2434-2436)ggG>ggA p.G812G AX747113_uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 812 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TGGAGTTAGGCCCAGGAACTT 0.438000 27 39 0 0 0.00195071 0 0 ITGB5 3693 broad.mit.edu 37 3 124515542 124515542 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:124515542C>T uc003eho.3 - 9 1683 c.1386G>A c.(1384-1386)acG>acA p.T462T ITGB5_uc010hrx.3_Non-coding_Transcript NM_002213 NP_002204 P18084 ITB5_HUMAN Homo sapiens integrin, beta 5 (ITGB5), mRNA. 462 cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) TGCAGCCGCACGTGCAGTTGT 0.672000 18 12 0 0 0.00136819 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62688069 62688069 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:62688069C>T uc003peg.2 - 3 632 c.385G>A c.(385-387)Gat>Aat p.D129N NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA. 129 KH. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) TGAAGCTCATCACTCAAGTGG 0.373000 14 9 0 0 0.000442599 0 0 AKR1CL1 340811 broad.mit.edu 37 10 5227116 5227116 + RNA SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:5227116G>A uc009xhz.2 - 0 c.35C>T Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA. cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 AGCCCAGTAGGAGACAAGGCT 0.493000 3 7 0 0 0.00198382 0 0 C17orf56 146705 broad.mit.edu 37 17 79202985 79202985 + Missense_Mutation SNP T G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:79202985T>G uc002jzu.2 - 11 1379 c.1321A>C c.(1321-1323)Agc>Cgc p.S441R C17orf56_uc002jzr.2_Missense_Mutation_p.S111R|C17orf56_uc002jzs.2_Missense_Mutation_p.S357R|C17orf56_uc002jzt.2_Missense_Mutation_p.S357R|C17orf56_uc002jzv.2_Missense_Mutation_p.S289R|AL832593_uc002jzw.1_Non-coding_Transcript NM_144679 NP_653280 Q96N21 CQ056_HUMAN Homo sapiens chromosome 17 open reading frame 56 (C17orf56), mRNA. 441 integral to membrane endometrium(1)|kidney(1)|lung(5)|prostate(1)|skin(3) 11 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CACCGCCTGCTTTCTGCCAGT 0.677000 24 5 0 0 0.00198382 0 0 CDH11 1009 broad.mit.edu 37 16 64981796 64981796 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:64981796G>A uc002eoi.3 - 12 2535 c.2101C>T c.(2101-2103)Cag>Tag p.Q701* CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_3'UTR|CDH11_uc010vin.2_Nonsense_Mutation_p.Q575* NM_001797 NP_001788 P55287 CAD11_HUMAN Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA. 701 adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GGCATGTACTGATACTCAGGT 0.527000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 72 31 0 0 0.0024448 0 0 MKRN2 23609 broad.mit.edu 37 3 12623672 12623672 + Missense_Mutation SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:12623672C>A uc003bxd.3 + 7 1227 c.1171C>A c.(1171-1173)Ccc>Acc p.P391T MKRN2_uc011aus.2_Missense_Mutation_p.P348T NM_014160 NP_054879 Q9H000 MKRN2_HUMAN Homo sapiens makorin ring finger protein 2 (MKRN2), mRNA. 391 intracellular ligase activity|nucleic acid binding|zinc ion binding p.P391Q(1) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3) 16 CCGGCATGTCCCCAACAATGA 0.502000 239 8 0.000274275 0.000995949 0.000274275 1 0 TEC 7006 broad.mit.edu 37 4 48147207 48147207 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:48147207G>A uc003gxz.3 - 13 1450 c.1359C>T c.(1357-1359)ttC>ttT p.F453F NM_003215 NP_003206 P42680 TEC_HUMAN Homo sapiens tec protein tyrosine kinase (TEC), mRNA. 453 Protein kinase. intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 TCTGTCGGAGGAAATTCAGAA 0.473000 64 29 0 0 0.00127121 0 0 RAB27B 5874 broad.mit.edu 37 18 52556538 52556538 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:52556538G>A uc002lfr.3 + 5 794 c.551G>A c.(550-552)cGa>cAa p.R184Q NM_004163 NP_004154 O00194 RB27B_HUMAN Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA. 184 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity p.R184Q(2) large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) ATCATGAAGCGAATGGAACAG 0.418000 45 11 0 0 0.00136819 0 0 HAVCR2 84868 broad.mit.edu 37 5 156514250 156514251 + Nonsense_Mutation DNP CC AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:156514250_156514251CC>AA uc003lwk.2 - 6 1022_1023 c.768_769GG>TT c.(766-771)gaggga>gaTTga p.256_257EG>D* NM_032782 NP_116171 Q8TDQ0 HAVR2_HUMAN Homo sapiens hepatitis A virus cellular receptor 2 (HAVCR2), mRNA. 256 integral to membrane cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GAGCGAATTCCCTCTGCTACTG 0.460000 472 12 0 0 6.4e-05 0 0 HMCN1 83872 broad.mit.edu 37 1 186043883 186043883 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:186043883C>T uc001grq.1 + 52 8379 c.8150C>T c.(8149-8151)tCc>tTc p.S2717F MIR548F1_uc021pgf.1_Intron NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 2717 Ig-like C2-type 25. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CCCCTTAAATCCGATGATCAT 0.353000 27 13 0 0 0.000308642 0 0 MAST1 22983 broad.mit.edu 37 19 12981851 12981851 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:12981851G>A uc002mvm.3 + 24 3255 c.3127_splice c.e24-1 p.S1043_splice NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA. 1043 PDZ. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 TTCCCCCAGAGTGGCAACAAG 0.592000 63 47 0 0 0.000781405 0 0 P4HTM 54681 broad.mit.edu 37 3 49043268 49043268 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:49043268C>T uc003cvh.3 + 6 1664 c.1315C>T c.(1315-1317)Cct>Tct p.P439S P4HTM_uc003cvg.3_Missense_Mutation_p.P378S|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank NM_177938 NP_808807 Q9NXG6 P4HTM_HUMAN Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA. 378 Fe2OG dioxygenase. endoplasmic reticulum membrane|integral to membrane L-ascorbic acid binding|calcium ion binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 Vitamin C(DB00126) GACTGTTTTCCCTGTAGCAGA 0.512000 177 53 0 0 0.000781405 0 0 ADCY8 114 broad.mit.edu 37 8 131859744 131859744 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:131859744C>T uc003ytd.4 - 10 2684 c.2428G>A c.(2428-2430)Gac>Aac p.D810N ADCY8_uc010mds.3_Intron NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 810 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) ATCGACTTGTCAAAATCACAC 0.393000 HNSCC(32;0.087) 39 10 0 0 0.000978159 0 0 DMBT1 1755 broad.mit.edu 37 10 124390604 124390604 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:124390604G>A uc001lgk.1 + 45 5872 c.5766G>A c.(5764-5766)gtG>gtA p.V1922V DMBT1_uc001lgl.1_Silent_p.V1912V|DMBT1_uc001lgm.1_Silent_p.V1294V|DMBT1_uc021qaf.1_Silent_p.V1922V|DMBT1_uc021qag.1_Silent_p.V1912V|DMBT1_uc021qah.1_Silent_p.V1294V|DMBT1_uc009xzz.1_Silent_p.V1922V|DMBT1_uc010qtx.1_Silent_p.V642V|DMBT1_uc009yab.1_Silent_p.V625V|DMBT1_uc009yac.1_Silent_p.V216V NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 1922 SRCR 14. 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) AAGCTGAGGTGGTCTGCAGAC 0.532000 19 42 0 0 0.0025221 0 0 PACSIN3 29763 broad.mit.edu 37 11 47203992 47203992 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:47203992G>A uc001ndw.3 - 3 516 c.173C>T c.(172-174)gCt>gTt p.A58V PACSIN3_uc001ndy.3_Missense_Mutation_p.A58V|PACSIN3_uc001ndx.3_Missense_Mutation_p.A58V NM_001184975 NP_057307 Q9UKS6 PACN3_HUMAN Homo sapiens protein kinase C and casein kinase substrate in neurons 3 (PACSIN3), transcript variant 1, mRNA. 58 FCH. endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis cytoplasm|plasma membrane cytoskeletal protein binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5) 11 GGCCCAGTCAGCCAACTGCTG 0.682000 19 15 0 0 0.000308642 0 0 SBF1 6305 broad.mit.edu 37 22 50906822 50906822 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:50906822G>A uc003blh.3 - 1 319 c.124C>T c.(124-126)Ccc>Tcc p.P42S SBF1_uc011arx.2_5'Flank|SBF1_uc003bli.2_Missense_Mutation_p.P42S NM_002972 NP_002963 O95248 MTMR5_HUMAN Homo sapiens SET binding factor 1 (SBF1), mRNA. 42 UDENN. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity p.P42S(2) 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) ATGCCCTGGGGGAATGGGTTG 0.657000 27 4 0 0 0.000602214 0 0 ATP6V1G3 127124 broad.mit.edu 37 1 198498223 198498223 + Silent SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:198498223T>C uc009wzd.3 - 2 224 c.189A>G c.(187-189)ctA>ctG p.L63L ATP6V1G3_uc001gup.3_Silent_p.L57L|ATP6V1G3_uc001guo.3_3'UTR NM_133262 NP_573569 Q96LB4 VATG3_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 (ATP6V1G3), transcript variant 1, mRNA. 57 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex ATPase binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 7 TAGATTGTTTTAGTCGAAACT 0.338000 38 7 0 0 0.00198382 0 0 NYNRIN 57523 broad.mit.edu 37 14 24877605 24877605 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:24877605C>T uc001wpf.4 + 2 1047 c.729C>T c.(727-729)ccC>ccT p.P243P NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA. 243 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GTCCTGGACCCTTTGTGGACA 0.587000 24 34 0 0 0.000953801 0 0 SLC45A1 50651 broad.mit.edu 37 1 8399557 8399557 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:8399557C>T uc001apb.3 + 6 1779 c.1779C>T c.(1777-1779)atC>atT p.I593I SLC45A1_uc001apc.3_Silent_p.I291I NM_001080397 NP_001073866 Q9Y2W3 S45A1_HUMAN Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA. 593 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CCGCAGCTATCCTGGAGAAGC 0.652000 39 31 0 0 0.00209593 0 0 OR8B3 390271 broad.mit.edu 37 11 124267101 124267101 + Silent SNP G A A rs140121900 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:124267101G>A uc010saj.2 - 0 147 c.147C>T c.(145-147)ttC>ttT p.F49F OR8B2_uc001qab.3_Intron NM_001005467 NP_001005467 Q8NGG8 OR8B3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA. 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AATTTAGACCGAAAAGAATGA 0.418000 13 12 0 0 0.00185496 0 0 GRHL3 57822 broad.mit.edu 37 1 24663621 24663622 + Missense_Mutation DNP GG AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:24663621_24663622GG>AA uc021oiw.1 + 4 896_897 c.666_667GG>AA c.(664-669)gaggac>gaAAac p.D223N GRHL3_uc001bix.3_Missense_Mutation_p.D223N|GRHL3_uc021oix.1_Missense_Mutation_p.D177N|GRHL3_uc001biy.3_Missense_Mutation_p.D228N|GRHL3_uc001biz.3_Missense_Mutation_p.D130N NM_198174 NP_937817 Q8TE85 GRHL3_HUMAN Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA. 223 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) CATGTCCAGAGGACTACCCCAG 0.564000 33 11 0 0 6.4e-05 0 0 KCNA1 3736 broad.mit.edu 37 12 5020775 5020775 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:5020775G>A uc001qnh.3 + 1 1336 c.231G>A c.(229-231)agG>agA p.R77R KCNA1_uc021qts.1_Silent_p.R77R NM_000217 NP_000208 Q09470 KCNA1_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA. 77 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity p.L76L(1) NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ACCCCCTGAGGAACGAGTACT 0.652000 40 21 0 0 0.00229938 0 0 LAMP5 24141 broad.mit.edu 37 20 9496969 9496969 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:9496969G>A uc002wni.2 + 3 931 c.436G>A c.(436-438)Gac>Aac p.D146N LAMP5_uc010zrc.2_Missense_Mutation_p.D102N NM_012261 NP_036393 Q9UJQ1 CT103_HUMAN Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA. 146 integral to membrane GTTTGTCTACGACTCCTCGGA 0.582000 22 53 0 0 0.000781405 0 0 NUP210 23225 broad.mit.edu 37 3 13415266 13415266 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:13415266C>T uc003bxv.1 - 11 1622 c.1539G>A c.(1537-1539)gtG>gtA p.V513V NUP210_uc003bxx.3_Silent_p.V185V NM_024923 NP_079199 Q8TEM1 PO210_HUMAN Homo sapiens nucleoporin 210kDa (NUP210), mRNA. 513 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) GTGCCTGGATCACACTGAACC 0.567000 14 16 0 0 0.00074312 0 0 ARHGAP15 55843 broad.mit.edu 37 2 144525724 144525724 + Missense_Mutation SNP G A A rs147613962 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:144525724G>A uc002tvm.4 + 13 1562 c.1411G>A c.(1411-1413)Ggc>Agc p.G471S ARHGAP15_uc002tvn.3_Missense_Mutation_p.G237S NM_018460 NP_060930 Q53QZ3 RHG15_HUMAN Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA. 471 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane Rac GTPase activator activity|protein binding endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) TAAGATCTTCGGCTCAGAGGA 0.413000 24 21 0 0 0.00152264 0 0 HEPHL1 341208 broad.mit.edu 37 11 93837822 93837822 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:93837822C>T uc001pep.2 + 15 2968 c.2811C>T c.(2809-2811)tcC>tcT p.S937S AF086184_uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN Homo sapiens hephaestin-like 1 (HEPHL1), mRNA. 937 Plastocyanin-like 6. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) AGAATGAATCCTGGTATCTGG 0.353000 45 46 0 0 0.000781405 0 0 CD163L1 283316 broad.mit.edu 37 12 7531888 7531888 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:7531888G>A uc010sge.2 - 8 2113 c.2087C>T c.(2086-2088)tCg>tTg p.S696L CD163L1_uc001qsy.3_Missense_Mutation_p.S686L NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 686 SRCR 7. extracellular region|integral to membrane|plasma membrane scavenger receptor activity p.S686L(1) breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CTCCATATCCGATGCATCTGA 0.463000 10 12 0 0 0.00136819 0 0 FBLN2 2199 broad.mit.edu 37 3 13613143 13613143 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:13613143C>T uc011avc.2 + 1 1670 c.1288C>T c.(1288-1290)Ccc>Tcc p.P430S FBLN2_uc011auz.2_Missense_Mutation_p.P456S|FBLN2_uc011avb.2_Missense_Mutation_p.P430S|FBLN2_uc011ava.2_Missense_Mutation_p.P430S NM_001165035 NP_001158507 P98095 FBLN2_HUMAN Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA. 430 N.|Subdomain NB (Cys-free). proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CCATTCTATCCCCAGAAGTAG 0.612000 18 5 0 0 0.000602214 0 0 OR4N4 283694 broad.mit.edu 37 15 22382583 22382583 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:22382583C>T uc001yuc.1 + 6 1092 c.111C>T c.(109-111)atC>atT p.I37I abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Silent_p.I37I NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA. 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTACCTTATCATCCTCCCTG 0.433000 256 45 0 0 0.000781405 0 0 ROBO2 6092 broad.mit.edu 37 3 77657030 77657030 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:77657030C>T uc011bgk.2 + 21 3873 c.3230C>T c.(3229-3231)cCt>cTt p.P1077L ROBO2_uc021xat.1_Missense_Mutation_p.P1089L|ROBO2_uc003dpy.4_Missense_Mutation_p.P1073L|ROBO2_uc003dpz.3_Missense_Mutation_p.P1077L|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Missense_Mutation_p.P200L NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA. 1073 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) GCCAATGTCCCTCTACCTCCC 0.423000 59 19 0 0 0.00121646 0 0 PKHD1 5314 broad.mit.edu 37 6 51889718 51889718 + Silent SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:51889718C>A uc003pah.1 - 31 5166 c.4890G>T c.(4888-4890)ggG>ggT p.G1630G PKHD1_uc003pai.3_Silent_p.G1630G NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 1630 IPT/TIG 11. 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) CAGAGCCATTCCCTGTGGGAA 0.488000 39 34 1.836e-18 6.71484e-18 0.000692331 1 0 ZNF222 7673 broad.mit.edu 37 19 44536305 44536305 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:44536305C>T uc002oye.3 + 3 693 c.598C>T c.(598-600)Ctt>Ttt p.L200F ZNF284_uc010ejd.2_Intron|ZNF222_uc002oyc.3_Missense_Mutation_p.L160F|ZNF222_uc002oyd.3_Missense_Mutation_p.L106F NM_001129996 NP_001123468 Q9UK12 ZN222_HUMAN Homo sapiens zinc finger protein 222 (ZNF222), transcript variant 1, mRNA. 160 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Prostate(69;0.0435) CATCTCAGCCCTTCATATTCA 0.423000 77 88 0 0 0.000781405 0 0 PRKCG 5582 broad.mit.edu 37 19 54403977 54403977 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:54403977G>A uc002qcq.1 + 13 1831 c.1549G>A c.(1549-1551)Ggg>Agg p.G517R PRKCG_uc010yeg.1_Missense_Mutation_p.G517R|PRKCG_uc010yeh.1_Missense_Mutation_p.G404R NM_002739 NP_002730 P05129 KPCG_HUMAN Homo sapiens protein kinase C, gamma (PRKCG), mRNA. 517 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 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;0.0521) CACCTTCTGCGGGACCCCGGA 0.562000 217 60 0 0 0.000781405 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882168 228882168 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:228882168C>T uc002vpq.2 - 6 3449 c.3402G>A c.(3400-3402)gtG>gtA p.V1134V SPHKAP_uc002vpp.2_Silent_p.V1134V|SPHKAP_uc010zlx.1_Silent_p.V1134V NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 1134 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CCATCTGGTTCACCATGAACC 0.527000 55 10 0 0 0.00136819 0 0 SCN10A 6336 broad.mit.edu 37 3 38768117 38768117 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:38768117C>T uc003ciq.3 - 15 3067 c.3067G>A c.(3067-3069)Gaa>Aaa p.E1023K NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1023 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) GGGATCACTTCCTGCTGGAAG 0.532000 59 23 0 0 0.000586117 0 0 BANK1 55024 broad.mit.edu 37 4 102946546 102946546 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:102946546C>T uc003hvy.4 + 8 1748 c.1474C>T c.(1474-1476)Cct>Tct p.P492S BANK1_uc003hvx.4_Missense_Mutation_p.P477S|BANK1_uc010ill.3_Missense_Mutation_p.P359S|BANK1_uc003hvz.4_Missense_Mutation_p.P462S NM_017935 NP_001077376 Q8NDB2 BANK1_HUMAN Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA. 492 B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) TGTGTTCATTCCTGGTGCTGA 0.498000 17 27 0 0 0.000720815 0 0 AGXT 189 broad.mit.edu 37 2 241808596 241808596 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:241808596G>A uc002waa.4 + 1 296 c.175G>A c.(175-177)Gag>Aag p.E59K AGXT_uc010zoi.1_Missense_Mutation_p.E59K NM_000030 NP_000021 P21549 SPYA_HUMAN Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA. 59 glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1) 18 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GATCATGGACGAGATCAAGGA 0.617000 42 16 0 0 0.000566183 0 0 ABCA13 154664 broad.mit.edu 37 7 48313192 48313192 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:48313192C>T uc003toq.2 + 16 3953 c.3929C>T c.(3928-3930)tCa>tTa p.S1310L ABCA13_uc010kyr.2_Missense_Mutation_p.S813L|ABCA13_uc022acp.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 1310 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GACTTTCTTTCAAATAATCTC 0.294000 20 4 0 0 0.00024832 0 0 TANC2 26115 broad.mit.edu 37 17 61498624 61498624 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:61498624G>A uc002jal.4 + 24 5304 c.5281G>A c.(5281-5283)Gaa>Aaa p.E1761K TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.E872K NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA. 1761 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 CAACCCTAACGAAATCAAACC 0.507000 68 119 0 0 0.000781405 0 0 ANXA2 302 broad.mit.edu 37 9 33624406 33624406 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:33624406C>T uc010mjx.3 + 0 184 c.135C>T c.(133-135)gcC>gcT p.A45A DJ439583_uc022bfp.1_5'Flank|DJ439557_uc022bfq.1_5'Flank NM_004039 NP_004030 P07355 ANXA2_HUMAN Homo sapiens annexin A2 (ANXA2), transcript variant 3, mRNA. 45 angiogenesis|positive regulation of vesicle fusion|skeletal system development basement membrane|melanosome|midbody|soluble fraction calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1) 9 Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031) TTGAAACAGCCATCAAGACCA 0.483000 OREG0019140 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 30 0 0 0.000692331 0 0 TEX26 122046 broad.mit.edu 37 13 31540496 31540496 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:31540496G>A uc001uti.3 + 4 626 c.607G>A c.(607-609)Gga>Aga p.G203R NM_152325 NP_689538 Q8N6G2 CM026_HUMAN Homo sapiens chromosome 13 open reading frame 26 (C13orf26), mRNA. 203 TTTCAAATATGGATGCTACTC 0.368000 56 23 0 0 0.000586117 0 0 C1orf94 84970 broad.mit.edu 37 1 34663286 34663286 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:34663286G>A uc001bxt.3 + 1 1619 c.781G>A c.(781-783)Gac>Aac p.D261N C1orf94_uc001bxs.4_Missense_Mutation_p.D71N NM_001134734 NP_116273 Q6P1W5 CA094_HUMAN Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA. 71 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) GAATGTGCTGGACAAGACAAG 0.552000 66 18 0 0 0.00121646 0 0 SHCBP1L 81626 broad.mit.edu 37 1 182909513 182909513 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:182909513C>T uc001gpu.3 - 2 1006 c.721G>A c.(721-723)Gga>Aga p.G241R SHCBP1L_uc001gpv.3_Missense_Mutation_p.G122R|SHCBP1L_uc010pnz.2_Missense_Mutation_p.G99R|SHCBP1L_uc001gpw.3_5'UTR NM_030933 NP_112195 Q9BZQ2 SHP1L_HUMAN Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA. 313 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2) 15 GTATCTTGTCCCTCAACAGGA 0.353000 114 29 0 0 0.00283554 0 0 SLC30A3 7781 broad.mit.edu 37 2 27481640 27481640 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:27481640G>A uc002rjk.3 - 1 444 c.258C>T c.(256-258)ttC>ttT p.F86F SLC30A3_uc002rjj.3_5'Flank|SLC30A3_uc010ylh.2_Silent_p.F81F NM_003459 NP_003450 Q99726 ZNT3_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA. 86 regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCCAGCCATGAAGACAAAGC 0.602000 88 14 0 0 0.000566183 0 0 TRANK1 9881 broad.mit.edu 37 3 36897504 36897504 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:36897504C>T uc003cgj.3 - 11 3825 c.3577G>A c.(3577-3579)Gac>Aac p.D1193N NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 1193 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 AAGTTCTCGTCCCTCAGGTCC 0.463000 134 109 0 0 0.000781405 0 0 OR4C11 219429 broad.mit.edu 37 11 55371061 55371061 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:55371061G>A uc010rii.2 - 0 814 c.789C>T c.(787-789)ttC>ttT p.F263F NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA. 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 TGTCCATGGGGAAAGTGGTCG 0.433000 2 12 0 0 0.00136819 0 0 MEGF6 1953 broad.mit.edu 37 1 3417791 3417791 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:3417791G>A uc001akl.3 - 18 2623 c.2396C>T c.(2395-2397)aCc>aTc p.T799I MEGF6_uc001akk.3_Missense_Mutation_p.T694I NM_001409 NP_001400 O75095 MEGF6_HUMAN Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA. 799 EGF-like 13. extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GCAGGCTCCGGTCTCAGGGTC 0.697000 25 5 0 0 0.00116845 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69097034 69097034 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:69097034G>A uc003hdw.4 - 6 709 c.573C>T c.(571-573)tcC>tcT p.S191S NM_182502 NP_872308 Q86T26 TM11B_HUMAN Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA. 191 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 CCCCCTCCAGGGAGCTTTTTC 0.498000 26 18 0 0 0.00121646 0 0 ASB13 79754 broad.mit.edu 37 10 5683848 5683848 + Silent SNP G A A rs61756319 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:5683848G>A uc001iig.2 - 4 638 c.594C>T c.(592-594)atC>atT p.I198I ASB13_uc001iih.2_Non-coding_Transcript|ASB13_uc001iii.2_Non-coding_Transcript|ASB13_uc009xic.2_Silent_p.I198I NM_024701 NP_078977 Q8WXK3 ASB13_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 13 (ASB13), transcript variant 1, mRNA. 198 intracellular signal transduction protein binding NS(1)|endometrium(3)|lung(3)|ovary(1) 8 GBM - Glioblastoma multiforme(2;9.59e-09) TAAGCATCTCGATGAGGTCAA 0.582000 24 24 0 0 0.00178596 0 0 ASIC4 55515 broad.mit.edu 37 2 220397091 220397091 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:220397091G>A uc002vlz.3 + 3 1465 c.1291G>A c.(1291-1293)Gag>Aag p.E431K ASIC4_uc010fwi.2_Missense_Mutation_p.E431K|ASIC4_uc010fwj.2_Missense_Mutation_p.E431K|ASIC4_uc002vly.2_3'UTR|ASIC4_uc002vma.3_Missense_Mutation_p.E431K|ASIC4_uc002vmb.3_Missense_Mutation_p.E85K NM_018674 NP_061144 Q96FT7 ACCN4_HUMAN Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA. 431 integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity TGAGCTCAGGGAGCCTGAGCT 0.642000 27 30 0 0 0.00127121 0 0 CHIA 27159 broad.mit.edu 37 1 111862931 111862931 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:111862931G>A uc001eas.3 + 11 1431 c.1274G>A c.(1273-1275)gGa>gAa p.G425E CHIA_uc001ear.3_Missense_Mutation_p.G317E|CHIA_uc001eaq.3_Missense_Mutation_p.G317E|CHIA_uc009wgc.3_Missense_Mutation_p.G317E|CHIA_uc001eat.3_Missense_Mutation_p.G264E|CHIA_uc001eav.3_Missense_Mutation_p.G264E|CHIA_uc001eau.3_Missense_Mutation_p.G264E|CHIA_uc009wgd.3_Missense_Mutation_p.G264E NM_201653 NP_068569 Q9BZP6 CHIA_HUMAN Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA. 425 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) GGCAGCTCGGGAGGCAGTGGA 0.597000 64 8 0 0 0.000442599 0 0 MAP3K11 4296 broad.mit.edu 37 11 65367011 65367011 + Missense_Mutation SNP G A A rs113014372 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:65367011G>A uc001oew.3 - 8 2553 c.2060C>T c.(2059-2061)cCg>cTg p.P687L MAP3K11_uc001oev.3_Missense_Mutation_p.P103L|MAP3K11_uc010rol.2_Missense_Mutation_p.P430L|MAP3K11_uc001oex.1_Missense_Mutation_p.P194L NM_002419 NP_002410 Q16584 M3K11_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA. 687 Pro-rich. G1 phase of mitotic cell cycle|activation of JUN kinase activity|cell proliferation|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 CGGCTCGGTCGGGCAGGGCGC 0.736000 19 23 0 0 0.000878237 0 0 LIN28A 79727 broad.mit.edu 37 1 26751877 26751877 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:26751877G>A uc001bmj.3 + 2 426 c.312G>A c.(310-312)ctG>ctA p.L104L LIN28A_uc001bmi.1_Non-coding_Transcript NM_024674 NP_078950 Q9H9Z2 LN28A_HUMAN Homo sapiens lin-28 homolog A (C. elegans) (LIN28A), mRNA. 104 CSD. RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|stem cell maintenance cytoplasmic mRNA processing body|nucleolus|stress granule DNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2) 8 CCAAGGGTCTGGAATCCATCC 0.527000 145 40 0 0 0.00148497 0 0 FAM71B 153745 broad.mit.edu 37 5 156592780 156592780 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:156592780C>T uc003lwn.3 - 0 500 c.400G>A c.(400-402)Gat>Aat p.D134N NM_130899 NP_570969 Q8TC56 FA71B_HUMAN Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA. 134 nucleus p.H133Q(1) NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTCTCATGATCGTGGATGGAG 0.527000 347 116 0 0 0.000781405 0 0 RP1 6101 broad.mit.edu 37 8 55540730 55540730 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:55540730G>A uc003xsd.1 + 3 4436 c.4288G>A c.(4288-4290)Gat>Aat p.D1430N RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1430 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) GAAGTTTCAGGATGAAAATGC 0.373000 32 14 0 0 0.00244969 0 0 DBC1 1620 broad.mit.edu 37 9 121930399 121930399 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:121930399C>T uc004bkc.2 - 7 1705 c.1249G>A c.(1249-1251)Ggc>Agc p.G417S NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 417 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GTGGTGCTGCCGTGGCACACG 0.612000 16 8 0 0 0.000274275 0 0 ZNF28 7576 broad.mit.edu 37 19 53303922 53303922 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:53303922G>A uc002qad.3 - 3 1333 c.1176C>T c.(1174-1176)ttC>ttT p.F392F ZNF28_uc002qac.3_Silent_p.F338F|ZNF28_uc010eqe.3_Silent_p.F338F|ZNF28_uc021uza.1_Silent_p.F339F NM_006969 NP_008900 P17035 ZNF28_HUMAN Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA. 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G392C(1) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) ATTTGCGACTGAAAACTTTTT 0.383000 75 52 0 0 0.000781405 0 0 LRP1B 53353 broad.mit.edu 37 2 141773462 141773462 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:141773462C>T uc002tvj.1 - 12 2965 c.1993G>A c.(1993-1995)Gag>Aag p.E665K LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 665 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCATCTTCCTCCCAGTCTGTC 0.408000 TSP Lung(27;0.18) 38 9 0 0 0.000673444 0 0 ASB1 51665 broad.mit.edu 37 2 239342322 239342322 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:239342322G>A uc002vyg.3 + 1 263 c.177G>A c.(175-177)gaG>gaA p.E59E NM_001040445 NP_001035535 Q9Y576 ASB1_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 1 (ASB1), mRNA. 59 intracellular signal transduction|negative regulation of cytokine biosynthetic process breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644) TATTGCAAGAGGAGAGCTACC 0.602000 80 13 0 0 0.000422831 0 0 SYT8 90019 broad.mit.edu 37 11 1858068 1858068 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:1858068G>A uc001lue.1 + 6 937 c.809G>A c.(808-810)cGa>cAa p.R270Q SYT8_uc001lud.2_Missense_Mutation_p.R270Q|TNNI2_uc021qbt.1_5'Flank|TNNI2_uc021qbu.1_5'Flank|TNNI2_uc021qbv.1_5'Flank NM_138567 NP_612634 Q8NBV8 SYT8_HUMAN Homo sapiens synaptotagmin VIII (SYT8), mRNA. 270 C2 2. acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle transporter activity breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CTGGAGGCTCGAGGCCTGCGT 0.687000 9 11 0 0 0.000978159 0 0 BDKRB2 624 broad.mit.edu 37 14 96707829 96707829 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:96707829G>A uc010avm.1 + 2 1360 c.1164G>A c.(1162-1164)ggG>ggA p.G388G BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Silent_p.G361G|BDKRB2_uc001yfg.2_Silent_p.G388G NM_000623 NP_000614 P30411 BKRB2_HUMAN Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA. 388 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding p.G388E(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) ACTGGGCAGGGAGCAGACAGT 0.552000 35 14 0 0 0.000308642 0 0 DPP4 1803 broad.mit.edu 37 2 162873628 162873628 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:162873628C>T uc002ubz.3 - 16 2019 c.1458G>A c.(1456-1458)gtG>gtA p.V486V DPP4_uc010fpb.3_Silent_p.V162V NM_001935 NP_001926 P27487 DPP4_HUMAN Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA. 486 T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity p.V486M(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) CTTTATCATTCACGCTGCTGT 0.343000 24 13 0 0 0.00185496 0 0 CALCRL 10203 broad.mit.edu 37 2 188245419 188245419 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:188245419C>T uc010frt.3 - 4 663 c.280G>A c.(280-282)Gac>Aac p.D94N CALCRL_uc002upv.4_Missense_Mutation_p.D94N NM_005795 NP_005786 Q16602 CALRL_HUMAN Homo sapiens calcitonin receptor-like (CALCRL), mRNA. 94 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) GGATCAAAGTCCTGAAAGTAA 0.398000 32 21 0 0 0.00047179 0 0 DUSP27 92235 broad.mit.edu 37 1 167095448 167095448 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:167095448C>T uc001geb.1 + 4 1096 c.1080C>T c.(1078-1080)ctC>ctT p.L360L NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA. 360 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GGCAGGGCCTCCTCTCAGACA 0.652000 28 4 0 0 0.000602214 0 0 MYH9 4627 broad.mit.edu 37 22 36688254 36688254 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:36688254C>T uc003apg.3 - 30 4353 c.4122G>A c.(4120-4122)gaG>gaA p.E1374E NM_002473 NP_002464 P35579 MYH9_HUMAN Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA. 1374 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CCACACTGTCCTCCATCTTCT 0.627000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 187 86 0 0 0.000781405 0 0 ELTD1 64123 broad.mit.edu 37 1 79470843 79470843 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:79470843G>A uc001diq.4 - 1 240 c.84C>T c.(82-84)ctC>ctT p.L28L NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA. 28 EGF-like 1. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TTGCATTTGGGAGACAAGGTG 0.343000 43 55 0 0 0.000781405 0 0 MYL4 4635 broad.mit.edu 37 17 45299208 45299208 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:45299208C>T uc002ilg.3 + 4 602 c.474C>T c.(472-474)gtC>gtT p.V158V MYL4_uc002ilh.3_Silent_p.V158V NM_001002841 NP_002467 P12829 MYL4_HUMAN Homo sapiens myosin, light chain 4, alkali; atrial, embryonic (MYL4), transcript variant 1, mRNA. 158 EF-hand 2. cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction A band|cytosol|muscle myosin complex actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1) 11 TTCGGCACGTCCTTGCCACCC 0.602000 33 13 0 0 0.00244969 0 0 DGKB 1607 broad.mit.edu 37 7 14880849 14880849 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:14880849C>T uc003ssz.3 - 0 227 c.40G>A c.(40-42)Gaa>Aaa p.E14K DGKB_uc011jxt.2_Missense_Mutation_p.E14K|DGKB_uc003sta.3_Missense_Mutation_p.E14K|DGKB_uc011jxu.2_Missense_Mutation_p.E14K|DGKB_uc011jxv.1_Missense_Mutation_p.E14K NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA. 14 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) TGGGAAAATTCCGAAGGGCTG 0.378000 14 33 0 0 0.00128727 0 0 APOB 338 broad.mit.edu 37 2 21234080 21234080 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:21234080G>A uc002red.3 - 25 5788 c.5660C>T c.(5659-5661)tCa>tTa p.S1887L NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1887 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CAGTGAGTCTGAATTATAGTT 0.488000 323 95 0 0 0.000781405 0 0 UNC45A 55898 broad.mit.edu 37 15 91491904 91491904 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:91491904C>T uc002bqg.3 + 12 2098 c.1758C>T c.(1756-1758)ctC>ctT p.L586L UNC45A_uc002bqd.3_Silent_p.L571L|UNC45A_uc010uqr.2_5'UTR|UNC45A_uc021suj.1_5'Flank NM_018671 NP_061141 Q9H3U1 UN45A_HUMAN Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA. 586 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GGTCAGTGCTCTTTGCGGTGG 0.597000 117 150 0 0 0.000781405 0 0 SEPT3 55964 broad.mit.edu 37 22 42383211 42383211 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:42383211G>A uc003bbr.4 + 4 470 c.332_splice c.e4-1 p.V111_splice SEPT3_uc003bbs.4_Splice_Site_p.V111_splice|SEPT3_uc011apj.2_Splice_Site_p.V47_splice|SEPT3_uc010gys.3_Intron NM_145733 NP_663786 Q9UH03 SEPT3_HUMAN Homo sapiens septin 3 (SEPT3), transcript variant A, mRNA. 111 cell cycle|cytokinesis cell junction|septin complex GTP binding breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 CACCCCCAGTGATAGAGGAAG 0.522000 92 8 0 0 0.000274275 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84582012 84582012 + Missense_Mutation SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:84582012A>C uc002bjz.4 + 15 2093 c.1869A>C c.(1867-1869)gaA>gaC p.E623D ADAMTSL3_uc010bmt.1_Missense_Mutation_p.E623D NM_207517 NP_997400 P82987 ATL3_HUMAN Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA. 623 TSP type-1 4. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GCCTCCTGGAAGCATGTGATG 0.612000 5 13 0 0 0.00136819 0 0 ALPK2 115701 broad.mit.edu 37 18 56205220 56205220 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:56205220G>A uc002lhj.4 - 4 2413 c.2199C>T c.(2197-2199)ttC>ttT p.F733F ALPK2_uc002lhk.1_Silent_p.F64F NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 733 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 GGTCTTCCCTGAAATTGTCAG 0.468000 135 79 0 0 0.000781405 0 0 KLHDC7B 113730 broad.mit.edu 37 22 50987878 50987878 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:50987878G>A uc003bmi.3 + 0 1417 c.1283G>A c.(1282-1284)tGg>tAg p.W428* NM_138433 NP_612442 Q96G42 KLD7B_HUMAN Homo sapiens kelch domain containing 7B (KLHDC7B), mRNA. 428 central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 14 all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) ACAGACGCCTGGACCCCACGC 0.672000 116 72 0 0 0.000781405 0 0 UGT3A2 167127 broad.mit.edu 37 5 36039597 36039597 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:36039597G>A uc003jjz.2 - 4 1189 c.1057C>T c.(1057-1059)Cct>Tct p.P353S UGT3A2_uc011cos.2_Missense_Mutation_p.P319S|UGT3A2_uc011cot.2_Missense_Mutation_p.P51S NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA. 353 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCACTCTGAGGAAGCCAGTCC 0.537000 56 18 0 0 0.00152264 0 0 EIF3A 8661 broad.mit.edu 37 10 120801559 120801560 + Missense_Mutation DNP GG AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:120801559_120801560GG>AA uc001ldu.3 - 18 3618_3619 c.3472_3473CC>TT c.(3472-3474)ccc>TTc p.P1158F EIF3A_uc010qsu.2_Missense_Mutation_p.P1124F|EIF3A_uc009xzg.1_Missense_Mutation_p.P197F NM_003750 NP_003741 Q14152 EIF3A_HUMAN Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA. 1158 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) ACCCCGTCTGGGAAACCGATCA 0.475000 73 20 0 0 6.4e-05 0 0 ABCA3 21 broad.mit.edu 37 16 2373621 2373621 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:2373621G>A uc002cpy.1 - 6 1228 c.516C>T c.(514-516)ttC>ttT p.F172F ABCA3_uc010bsk.1_Silent_p.F172F|ABCA3_uc010bsl.1_Silent_p.F172F|ABCA3_uc002cpz.1_Silent_p.F172F NM_001089 NP_001080 Q99758 ABCA3_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA. 172 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.F172F(2) breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) TCTCTTTCAGGAAAAAGGAGC 0.498000 249 95 0 0 0.000781405 0 0 APOB 338 broad.mit.edu 37 2 21229324 21229324 + Silent SNP G T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:21229324G>T uc002red.3 - 25 10544 c.10416C>A c.(10414-10416)acC>acA p.T3472T NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 3472 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.T3472T(4) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTCCTTTAGCGGTAGAGTACA 0.398000 382 10 2.17888e-05 7.92893e-05 0.000442599 1 0 TTC13 79573 broad.mit.edu 37 1 231048465 231048465 + Silent SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:231048465C>A uc001huf.4 - 18 2175 c.2133G>T c.(2131-2133)acG>acT p.T711T TTC13_uc001hug.4_Silent_p.T657T|TTC13_uc009xfj.3_Non-coding_Transcript|TTC13_uc009xfk.2_Silent_p.T600T NM_024525 NP_078801 Q8NBP0 TTC13_HUMAN Homo sapiens tetratricopeptide repeat domain 13 (TTC13), transcript variant 1, mRNA. 711 binding central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) TCCTTTCTTCCGTGGTTTGAG 0.323000 230 7 0.00198382 0.00716019 0.00198382 1 0 PTPRT 11122 broad.mit.edu 37 20 40739032 40739032 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:40739032G>A uc002xkg.3 - 22 3379 c.3195C>T c.(3193-3195)ttC>ttT p.F1065F PTPRT_uc010ggj.3_Silent_p.F1084F|PTPRT_uc010ggi.3_Silent_p.F268F NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 1065 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CCTGGCGGACGAAGCCCAGAA 0.622000 15 34 0 0 0.000814825 0 0 SLC28A3 64078 broad.mit.edu 37 9 86894981 86894981 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:86894981C>T uc010mpz.3 - 15 1883 c.1737G>A c.(1735-1737)atG>atA p.M579I SLC28A3_uc011lsy.2_Missense_Mutation_p.M510I|SLC28A3_uc004anu.2_Missense_Mutation_p.M579I NM_001199633 NP_001186562 Q9HAS3 S28A3_HUMAN Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA. 579 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 TGGAAGGAGCCATGGATGCTG 0.532000 19 8 0 0 0.000274275 0 0 GBP1P1 400759 broad.mit.edu 37 1 89890038 89890038 + RNA SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:89890038C>T uc009wcy.1 + 4 c.779C>T Homo sapiens guanylate binding protein 1, interferon-inducible pseudogene 1 (GBP1P1), non-coding RNA. CTTGAGGTTTCTGTTTTTCTG 0.488000 134 37 0 0 0.000814825 0 0 ACACA 31 broad.mit.edu 37 17 35548085 35548085 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:35548085G>A uc002hnm.3 - 37 4628 c.4437C>T c.(4435-4437)ccC>ccT p.P1479P ACACA_uc002hnk.3_Silent_p.P1401P|ACACA_uc002hnl.3_Silent_p.P1421P|ACACA_uc002hnn.3_Silent_p.P1479P|ACACA_uc002hno.3_Silent_p.P1516P|ACACA_uc010cuy.3_Silent_p.P173P NM_198836 NP_942135 Q13085 ACACA_HUMAN Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA. 1479 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TGATAACCGTGGGCACAAAGT 0.453000 49 14 0 0 0.000308642 0 0 PCDH18 54510 broad.mit.edu 37 4 138450973 138450973 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:138450973C>T uc003ihe.4 - 0 2657 c.2270G>A c.(2269-2271)gGg>gAg p.G757E PCDH18_uc003ihf.4_Missense_Mutation_p.G750E|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.G537E|PCDH18_uc011cha.2_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 757 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TGTGATGTCCCCTTTGTGAAT 0.493000 20 15 0 0 0.000422831 0 0 HEATR8 374977 broad.mit.edu 37 1 55166875 55166875 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:55166875G>A uc010ooe.1 + 18 3489 c.3165G>A c.(3163-3165)ggG>ggA p.G1055G HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ood.1_Silent_p.G573G|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Silent_p.G257G NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA. 1055 integral to membrane binding breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 ACATGGATGGGATGCTGGTGG 0.592000 34 32 0 0 0.00058488 0 0 SORCS1 114815 broad.mit.edu 37 10 108357117 108357117 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:108357117A>G uc001kyl.3 - 23 3439 c.3257T>C c.(3256-3258)tTa>tCa p.L1086S SORCS1_uc021pxw.1_Missense_Mutation_p.L1086S|SORCS1_uc009xxs.3_Missense_Mutation_p.L1086S|SORCS1_uc001kym.3_Missense_Mutation_p.L1086S|SORCS1_uc001kyn.2_Missense_Mutation_p.L1086S|SORCS1_uc001kyo.3_Missense_Mutation_p.L1086S NM_001013031 NP_001013049 Q8WY21 SORC1_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA. 1086 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) ACCCGCTGTTAAGTGAGCAGC 0.502000 14 14 0 0 0.00074312 0 0 OR6N1 128372 broad.mit.edu 37 1 158736239 158736239 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:158736239G>A uc010piq.2 - 0 234 c.234C>T c.(232-234)atC>atT p.I78I NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA. 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) GCATCTTAGGGATGGTGGCAG 0.498000 49 34 0 0 0.000692331 0 0 CYP7A1 1581 broad.mit.edu 37 8 59409675 59409675 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:59409675G>A uc003xtm.4 - 2 459 c.396C>T c.(394-396)acC>acT p.T132T NM_000780 NP_000771 P22680 CP7A1_HUMAN Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA. 132 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) GGCCCTGCAGGGTTTTGATGA 0.458000 Neonatal Giant Cell Hepatitis 56 28 0 0 0.000878237 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141207 143141207 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:143141207G>A uc011ktg.2 + 0 662 c.662G>A c.(661-663)gGa>gAa p.G221E LOC285965_uc003wda.3_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA. 221 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) ACATCTCTGGGAAGACACAGG 0.458000 74 47 0 0 0.000781405 0 0 SLC17A2 10246 broad.mit.edu 37 6 25915870 25915870 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:25915870G>A uc011dkb.2 - 8 1151 c.1068C>T c.(1066-1068)ctC>ctT p.L356L SLC17A2_uc011dkc.2_Intron|SLC17A2_uc003nfl.3_Intron O00624 NPT3_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA. 356 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 ATGGAAGGAGGAGCCCTGGGC 0.493000 30 11 0 0 0.00136819 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325271 150325271 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:150325271C>T uc022apv.1 - 2 1105 c.625G>A c.(625-627)Gat>Aat p.D209N GIMAP6_uc003whn.3_Missense_Mutation_p.D139N|GIMAP6_uc003whm.3_3'UTR NM_001244072 NP_001231001 Q6P9H5 GIMA6_HUMAN Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA. 139 GTP binding p.E209K(1) endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACCTGCTGATCCTCATCCGTG 0.642000 67 48 0 0 0.000781405 0 0 C15orf39 56905 broad.mit.edu 37 15 75498755 75498755 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:75498755C>T uc002azp.4 + 1 686 c.366C>T c.(364-366)taC>taT p.Y122Y C15orf39_uc002azq.4_Silent_p.Y122Y|C15orf39_uc021sqm.1_5'Flank|C15orf39_uc002azr.4_5'Flank NM_015492 NP_056307 Q6ZRI6 CO039_HUMAN Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA. 122 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 CTCACTCCTACCCAGGCCCAC 0.612000 10 5 0 0 0.000157383 0 0 ZNF527 84503 broad.mit.edu 37 19 37879873 37879873 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:37879873G>A uc010efk.1 + 4 1033 c.922G>A c.(922-924)Gga>Aga p.G308R ZNF527_uc002ogf.3_Missense_Mutation_p.G276R|ZNF527_uc010xtq.1_Non-coding_Transcript NM_032453 NP_115829 Q8NB42 ZN527_HUMAN Homo sapiens zinc finger protein 527 (ZNF527), mRNA. 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CAATGACTGTGGAAAAGCCTT 0.393000 54 62 0 0 0.000781405 0 0 PITPNM3 83394 broad.mit.edu 37 17 6367089 6367089 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:6367089C>T uc002gdd.4 - 16 2420 c.2269G>A c.(2269-2271)Gac>Aac p.D757N PITPNM3_uc010cln.3_Missense_Mutation_p.D721N|PITPNM3_uc010clm.3_Missense_Mutation_p.D240N|PITPNM3_uc002gdc.4_Missense_Mutation_p.D348N NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA. 757 phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2) 36 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) ACCTTGGGGTCGCTTCCCATG 0.632000 3 7 0 0 0.000274275 0 0 GLI2 2736 broad.mit.edu 37 2 121740331 121740331 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:121740331C>T uc010flp.3 + 9 1588 c.1558C>T c.(1558-1560)Ctg>Ttg p.L520L GLI2_uc002tmq.1_Silent_p.L192L|GLI2_uc002tmr.1_Silent_p.L175L|GLI2_uc002tmt.4_Silent_p.L192L|GLI2_uc002tmu.4_Silent_p.L175L|GLI2_uc002tmw.1_Silent_p.L503L NM_005270 NP_005261 P10070 GLI2_HUMAN Homo sapiens GLI family zinc finger 2 (GLI2), mRNA. 520 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CCTGGAGAACCTGAAGACACA 0.632000 37 16 0 0 0.00074312 0 0 THSD7B 80731 broad.mit.edu 37 2 138413132 138413132 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:138413132C>T uc002tva.1 + 20 3917 c.3917C>T c.(3916-3918)tCa>tTa p.S1306L THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CACAGTGGTTCAATATCTCAT 0.507000 11 6 0 0 0.00198382 0 0 KCNK15 60598 broad.mit.edu 37 20 43379280 43379280 + Missense_Mutation SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:43379280C>A uc002xmr.3 + 1 858 c.794C>A c.(793-795)cCc>cAc p.P265H NM_022358 NP_071753 Q9H427 KCNKF_HUMAN Homo sapiens potassium channel, subfamily K, member 15 (KCNK15), mRNA. 265 integral to membrane potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(115;0.0122) Agcccgcgccccccgggggcg 0.751000 5 12 4.3838e-07 1.59641e-06 0.00185496 1 0 L3MBTL3 84456 broad.mit.edu 37 6 130381225 130381225 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:130381225G>A uc003qbt.3 + 9 980 c.804G>A c.(802-804)atG>atA p.M268I L3MBTL3_uc003qbu.3_Missense_Mutation_p.M243I NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA. 268 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) AAGTTGGCATGAAATTAGAAG 0.393000 14 19 0 0 0.00278032 0 0 RANBP2 5903 broad.mit.edu 37 2 109380827 109380827 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:109380827C>T uc002tem.4 + 19 3958 c.3832C>T c.(3832-3834)Cca>Tca p.P1278S NM_006267 NP_006258 P49792 RBP2_HUMAN Homo sapiens RAN binding protein 2 (RANBP2), mRNA. 1278 RanBD1 1. carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GTTGCCAAAACCAGAACAACT 0.393000 82 8 0 0 0.000442599 0 0 SPAG8 26206 broad.mit.edu 37 9 35811392 35811392 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:35811392G>A uc003zye.3 - 1 766 c.651C>T c.(649-651)ttC>ttT p.F217F SPAG8_uc003zyg.3_Silent_p.F217F NM_172312 NP_758516 Q99932 SPAG8_HUMAN Homo sapiens sperm associated antigen 8 (SPAG8), transcript variant 2, mRNA. 217 acrosomal vesicle|membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) CCAGGTTTCTGAACCCTGGAG 0.582000 126 40 0 0 0.000680045 0 0 DAG1 1605 broad.mit.edu 37 3 49570616 49570616 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:49570616C>T uc021wxz.1 + 2 3141 c.2672C>T c.(2671-2673)cCc>cTc p.P891L DAG1_uc021wya.1_Missense_Mutation_p.P891L|DAG1_uc021wyb.1_Missense_Mutation_p.P891L|DAG1_uc021wyc.1_Missense_Mutation_p.P891L|DAG1_uc021wyd.1_Missense_Mutation_p.P891L|DAG1_uc021wye.1_Missense_Mutation_p.P891L|DAG1_uc021wyf.1_Missense_Mutation_p.P891L|DAG1_uc021wyg.1_Missense_Mutation_p.P891L|DAG1_uc021wyh.1_Missense_Mutation_p.P891L|DAG1_uc021wyi.1_Missense_Mutation_p.P891L|DAG1_uc021wyj.1_Missense_Mutation_p.P891L|DAG1_uc021wyk.1_Missense_Mutation_p.P891L|DAG1_uc003cxc.4_Missense_Mutation_p.P891L NM_001177643 NP_001171114 Q14118 DAG1_HUMAN Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA. 891 Pro-rich.|Required for binding DMD and UTRN.|Required for interaction with CAV3. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) TCACCTCCTCCCTATGTCCCA 0.652000 25 9 0 0 0.000442599 0 0 GLI3 2737 broad.mit.edu 37 7 42005516 42005516 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:42005516G>A uc011kbh.2 - 14 3246 c.3155C>T c.(3154-3156)cCc>cTc p.P1052L GLI3_uc011kbg.2_Missense_Mutation_p.P993L NM_000168 NP_000159 P10071 GLI3_HUMAN Homo sapiens GLI family zinc finger 3 (GLI3), mRNA. 1052 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 GCCGCCCTCGGGCCGCGTGTA 0.657000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 50 31 0 0 0.00178596 0 0 RTP3 83597 broad.mit.edu 37 3 46542035 46542035 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:46542035G>A uc003cps.1 + 1 413 c.345G>A c.(343-345)ctG>ctA p.L115L NM_031440 NP_113628 Q9BQQ7 RTP3_HUMAN Homo sapiens receptor (chemosensory) transporter protein 3 (RTP3), mRNA. 115 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) CAAGGATCCTGAAAAACCTGG 0.463000 64 53 0 0 0.000781405 0 0 CD5 921 broad.mit.edu 37 11 60889213 60889214 + Nonsense_Mutation DNP GG AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:60889213_60889214GG>AA uc009ynk.3 + 5 1039_1040 c.936_937GG>AA c.(934-939)tgggag>tgAAag p.312_313WE>*K NM_014207 NP_055022 P06127 CD5_HUMAN Homo sapiens CD5 molecule (CD5), mRNA. 312 SRCR 3. cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) CGCTGCGGTGGGAGGAGGTGTG 0.653000 17 11 0 0 6.4e-05 0 0 BCL7A 605 broad.mit.edu 37 12 122496996 122496996 + Splice_Site SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:122496996A>G uc001ubo.3 + 6 762 c.625_splice c.e6-2 p.D209_splice BCL7A_uc001ubp.3_Splice_Site_p.D188_splice NM_020993 NP_066273 Q4VC05 BCL7A_HUMAN Homo sapiens B-cell CLL/lymphoma 7A (BCL7A), transcript variant 1, mRNA. 188 negative regulation of transcription, DNA-dependent haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231) CCTCTCCCCAAGGATTTGGAA 0.537000 T MYC BNHL 33 30 0 0 0.00058488 0 0 HNF4A 3172 broad.mit.edu 37 20 43057087 43057087 + Silent SNP C T T rs141448616 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:43057087C>T uc002xma.3 + 8 1331 c.1242C>T c.(1240-1242)aaC>aaT p.N414N HNF4A_uc002xlu.3_Silent_p.N392N|HNF4A_uc002xlv.3_Silent_p.N392N|HNF4A_uc010ggq.3_Silent_p.N407N|HNF4A_uc002xlz.3_Silent_p.N414N NM_000457 NP_000448 P41235 HNF4A_HUMAN Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA. 414 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) ACCTCAGCAACGGACAGATGT 0.582000 239 65 0 0 0.000781405 0 0 KRT71 112802 broad.mit.edu 37 12 52943863 52943863 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:52943863C>T uc001sao.3 - 1 676 c.606G>A c.(604-606)ctG>ctA p.L202L NM_033448 NP_258259 Q3SY84 K2C71_HUMAN Homo sapiens keratin 71 (KRT71), mRNA. 202 Coil 1B.|Rod. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) GCTCCGAGTCCAGCCTCACCC 0.587000 48 61 0 0 0.000781405 0 0 C6 729 broad.mit.edu 37 5 41201788 41201788 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:41201788C>T uc003jmk.2 - 2 382 c.172G>A c.(172-174)Gaa>Aaa p.E58K C6_uc003jml.1_Missense_Mutation_p.E58K NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 58 TSP type-1 1. 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) CAAAAGTTTTCCTGGTAGTAC 0.408000 39 8 0 0 0.000274275 0 0 ENPEP 2028 broad.mit.edu 37 4 111397858 111397858 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:111397858C>T uc003iab.4 + 0 630 c.288C>T c.(286-288)ttC>ttT p.F96F NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 96 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding p.F96F(2) 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) TGCCGGACTTCGTCAACCCAG 0.627000 62 25 0 0 0.000586117 0 0 PKHD1 5314 broad.mit.edu 37 6 51503726 51503726 + Silent SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:51503726A>C uc003pah.1 - 63 11703 c.11427T>G c.(11425-11427)ggT>ggG p.G3809G NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 3809 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) AGCTAACATAACCATCTTGAG 0.383000 62 39 0 0 0.00222228 0 0 MUC16 94025 broad.mit.edu 37 19 9048344 9048344 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9048344C>T uc002mkp.3 - 4 33491 c.33287G>A c.(33286-33288)gGa>gAa p.G11096E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11098 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 GGTCACCACTCCTGATACCCC 0.507000 29 24 0 0 0.00278032 0 0 GLT6D1 360203 broad.mit.edu 37 9 138516270 138516270 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:138516270G>A uc010nbd.1 - 4 758 c.504C>T c.(502-504)ttC>ttT p.F168F NM_182974 NP_892019 Q7Z4J2 GL6D1_HUMAN Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA. 168 carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 15 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) TGCTGAAGAGGAAGTCCACCT 0.597000 31 28 0 0 0.001512 0 0 TTLL2 83887 broad.mit.edu 37 6 167754223 167754223 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:167754223C>T uc003qvs.1 + 2 923 c.835C>T c.(835-837)Cgg>Tgg p.R279W NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA. 279 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) AGGGTTGGTTCGGTTTGCCAC 0.398000 76 60 0 0 0.000781405 0 0 ITGAE 3682 broad.mit.edu 37 17 3643113 3643113 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:3643113G>A uc002fwo.4 - 19 2607 c.2508C>T c.(2506-2508)gcC>gcT p.A836A NM_002208 NP_002199 P38570 ITAE_HUMAN Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA. 836 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) AGACGGTGGTGGCCAACTGTA 0.537000 6 44 0 0 0.000781405 0 0 CHRNB3 1142 broad.mit.edu 37 8 42591761 42591761 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:42591761G>A uc003xpi.1 + 5 1505 c.1377G>A c.(1375-1377)taG>taA p.*459* NM_000749 NP_000740 Q05901 ACHB3_HUMAN Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA. 0 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) GTTACCATTAGGAATTTAAAA 0.413000 52 37 0 0 0.00170553 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41055862 41055862 + Silent SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:41055862A>G uc003jmj.4 - 9 1505 c.1015T>C c.(1015-1017)Ttg>Ctg p.L339L HEATR7B2_uc003jmi.4_Intron NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 339 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 TTGACAGCCAATCTTAACAAA 0.418000 58 20 0 0 0.00278032 0 0 SGSM1 129049 broad.mit.edu 37 22 25270412 25270412 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:25270412C>T uc003abg.2 + 12 1479 c.1322C>T c.(1321-1323)tCc>tTc p.S441F SGSM1_uc010guu.1_Intron|SGSM1_uc003abh.2_Missense_Mutation_p.S441F|SGSM1_uc003abj.2_Intron|SGSM1_uc003abi.1_Intron NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA. 441 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 AGCACTTCCTCCGTCTCTGTG 0.607000 47 6 0 0 0.00198382 0 0 ABCB5 340273 broad.mit.edu 37 7 20795182 20795182 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:20795182C>T uc010kuh.3 + 27 3946 c.3709C>T c.(3709-3711)Cat>Tat p.H1237Y ABCB5_uc003suw.4_Missense_Mutation_p.H792Y NM_001163941 NP_848654 Q2M3G0 ABCB5_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA. 792 regulation of membrane potential Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 ACAAGGAACTCATCAAGAGCT 0.428000 60 8 0 0 0.000157383 0 0 PZP 5858 broad.mit.edu 37 12 9345244 9345244 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:9345244G>A uc001qvl.3 - 11 1375 c.1346C>T c.(1345-1347)tCc>tTc p.S449F PZP_uc009zgl.3_Missense_Mutation_p.S318F NM_002864 NP_002855 Homo sapiens pregnancy-zone protein (PZP), mRNA. breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 TCCACTTAAGGAGAAAACACG 0.498000 59 29 0 0 0.0024448 0 0 MAP4K4 9448 broad.mit.edu 37 2 102480488 102480488 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:102480488C>T uc002tbc.3 + 16 2450 c.2072C>T c.(2071-2073)tCa>tTa p.S691L MAP4K4_uc002tbf.3_Intron|MAP4K4_uc002tbd.3_Intron|MAP4K4_uc010yvy.2_Missense_Mutation_p.S606L|MAP4K4_uc002tbh.3_Intron|MAP4K4_uc002tbg.3_Intron|MAP4K4_uc002tbi.3_Intron|MAP4K4_uc010yvz.2_Missense_Mutation_p.S586L|MAP4K4_uc002tbk.3_Intron|MAP4K4_uc021vlq.1_Intron|MAP4K4_uc002tbl.3_5'Flank NM_145687 NP_001229488 O95819 M4K4_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA. 617 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 p.R690R(1) 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 TGGTCTAGATCAGACAGTGAC 0.453000 39 18 0 0 0.000566183 0 0 FUT10 84750 broad.mit.edu 37 8 33247208 33247208 + Missense_Mutation SNP G A A rs149780215 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:33247208G>A uc011lbi.2 - 3 801 c.635C>T c.(634-636)cCa>cTa p.P212L FUT10_uc003xjc.3_Missense_Mutation_p.P169L|FUT10_uc003xjd.3_Missense_Mutation_p.P134L|FUT10_uc003xje.3_Missense_Mutation_p.P162L|FUT10_uc003xjf.3_Missense_Mutation_p.P100L|FUT10_uc003xjg.3_Missense_Mutation_p.P134L|FUT10_uc003xjh.3_Missense_Mutation_p.P162L Q6P4F1 FUT10_HUMAN Homo sapiens fucosyltransferase 10 (alpha (1,3) fucosyltransferase) (FUT10), mRNA. 162 L-fucose catabolic process|embryo development|fertilization|hemopoiesis|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 29 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) GGTGATCACTGGTTTATGAAA 0.443000 27 30 0 0 0.00127121 0 0 OR5V1 81696 broad.mit.edu 37 6 29323035 29323035 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:29323035G>A uc011dlo.2 - 0 1020 c.938C>T c.(937-939)tCc>tTc p.S313F NM_030876 NP_110503 Q9UGF6 OR5V1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA. 313 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S313F(4) breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 ATCCAAAGAGGAAATTGGTGG 0.358000 18 21 0 0 0.00229938 0 0 TTN 7273 broad.mit.edu 37 2 179659879 179659879 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179659879G>A uc021vsy.1 - 6 1240 c.1015C>T c.(1015-1017)Cct>Tct p.P339S TTN_uc021vsz.1_Missense_Mutation_p.P339S|TTN_uc021vta.1_Missense_Mutation_p.P339S|TTN_uc021vtb.1_Missense_Mutation_p.P339S|TTN_uc002unb.2_Missense_Mutation_p.P339S|TTN_uc010frg.1_Missense_Mutation_p.P13S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 339 ZIS1. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G338C(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) GGCACTTCAGGACCTGTGGCC 0.562000 52 43 0 0 0.00285205 0 0 VN1R4 317703 broad.mit.edu 37 19 53770738 53770738 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:53770738C>T uc010ydu.2 - 0 181 c.181G>A c.(181-183)Gga>Aga p.G61R NM_173857 NP_776256 Q7Z5H5 VN1R4_HUMAN Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA. 61 response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 22 GBM - Glioblastoma multiforme(134;0.00294) TGGGGGACTCCTTTACAGCGG 0.463000 HNSCC(26;0.072) 21 26 0 0 0.00058488 0 0 ZNF391 346157 broad.mit.edu 37 6 27369044 27369044 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:27369044C>T uc003njf.1 + 2 1413 c.895C>T c.(895-897)Cac>Tac p.H299Y ZNF391_uc021ypw.1_Missense_Mutation_p.H299Y NM_001076781 NP_001070249 Q9UJN7 ZN391_HUMAN Homo sapiens zinc finger protein 391 (ZNF391), mRNA. 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 21 TCAGAGAATCCACAGTGGAGA 0.483000 41 17 0 0 0.000958276 0 0 KDM5B 10765 broad.mit.edu 37 1 202724528 202724528 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:202724528G>A uc009xag.3 - 11 1633 c.1517C>T c.(1516-1518)tCt>tTt p.S506F KDM5B_uc001gyf.3_Missense_Mutation_p.S470F|KDM5B_uc001gyg.1_Missense_Mutation_p.S312F NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA. 470 JmjC. negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 TGCAAGGACAGACTGCTCCAT 0.393000 215 37 0 0 0.00170553 0 0 CAP2 10486 broad.mit.edu 37 6 17426906 17426906 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:17426906G>A uc003ncb.3 + 2 450 c.207G>A c.(205-207)ggG>ggA p.G69G CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Silent_p.G69G|CAP2_uc011djb.2_Silent_p.G69G|CAP2_uc011djc.2_Silent_p.G69G|CAP2_uc011djd.2_Silent_p.G69G NM_006366 NP_006357 P40123 CAP2_HUMAN Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA. 69 activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding p.A68V(1) breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1) 27 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) TCCTTGCTGGGGACGTGGAGA 0.517000 54 15 0 0 0.000422831 0 0 KIAA1024 23251 broad.mit.edu 37 15 79760660 79760660 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:79760660G>A uc002bew.1 + 3 2760 c.2685G>A c.(2683-2685)ctG>ctA p.L895L KIAA1024_uc010unk.1_3'UTR NM_015206 NP_056021 Q9UPX6 K1024_HUMAN Homo sapiens KIAA1024 (KIAA1024), mRNA. 895 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 TAGCTGCTCTGATCGCTGCTG 0.453000 26 9 0 0 0.000274275 0 0 CD207 50489 broad.mit.edu 37 2 71061152 71061152 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:71061152C>T uc002shg.3 - 3 238 c.191_splice c.e3-1 p.Y64_splice NM_015717 NP_056532 Q9UJ71 CLC4K_HUMAN Homo sapiens CD207 molecule, langerin (CD207), mRNA. 64 defense response to virus endocytic vesicle|integral to membrane mannose binding endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 AACCGGGGATCTGGGATTGAG 0.498000 12 5 0 0 0.00116845 0 0 LIN28B 389421 broad.mit.edu 37 6 105526471 105526471 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:105526471C>T uc003pqv.1 + 3 769 c.566C>T c.(565-567)tCa>tTa p.S189L LIN28B_uc010kda.1_3'UTR NM_001004317 NP_001004317 Q6ZN17 LN28B_HUMAN Homo sapiens lin-28 homolog B (C. elegans) (LIN28B), mRNA. 189 RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|RNA binding|protein binding|zinc ion binding large_intestine(1)|lung(10)|ovary(1) 12 all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204) CCATGCACTTCAACTCTCCCT 0.557000 22 16 0 0 0.000422831 0 0 POGK 57645 broad.mit.edu 37 1 166818322 166818322 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:166818322C>T uc001gdt.1 + 4 626 c.506C>T c.(505-507)cCc>cTc p.P169L POGK_uc010ple.1_Missense_Mutation_p.P84L|POGK_uc010plf.1_Missense_Mutation_p.P51L NM_017542 NP_060012 Q9P215 POGK_HUMAN Homo sapiens pogo transposable element with KRAB domain (POGK), mRNA. 169 multicellular organismal development|regulation of transcription, DNA-dependent nucleus DNA binding endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 22 GAGGGGTACCCCTTCTACATG 0.582000 29 33 0 0 0.00209593 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616557 77616557 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:77616557G>A uc003yau.2 + 1 621 c.234G>A c.(232-234)aaG>aaA p.K78K ZFHX4_uc003yat.1_Silent_p.K78K|ZFHX4_uc003yaw.1_Silent_p.K78K NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 78 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCTCAGCAAAGGAGATACCCT 0.502000 HNSCC(33;0.089) 89 29 0 0 0.001512 0 0 RXRG 6258 broad.mit.edu 37 1 165380213 165380213 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:165380213G>A uc001gda.3 - 4 1218 c.756C>T c.(754-756)tcC>tcT p.S252S RXRG_uc021pea.1_Silent_p.S129S NM_006917 NP_008848 P48443 RXRG_HUMAN Homo sapiens retinoid X receptor, gamma (RXRG), transcript variant 1, mRNA. 252 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) TGTCACCATAGGATTCTGTCT 0.463000 63 14 0 0 0.000308642 0 0 DNAJC25 548645 broad.mit.edu 37 9 114411979 114411979 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:114411979C>T uc004bfl.3 + 2 792 c.736C>T c.(736-738)Ctg>Ttg p.L246L DNAJC25_uc004bfn.3_Intron|DNAJC25_uc004bfm.3_Silent_p.L124L NM_001015882 NP_001015882 Q9H1X3 DJC25_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C , member 25 (DNAJC25), transcript variant 1, mRNA. 246 protein folding integral to membrane heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(2)|lung(1)|skin(4) 8 TGATCTTCTCCTGTTTCAAAT 0.343000 54 17 0 0 0.000422831 0 0 PSD4 23550 broad.mit.edu 37 2 113940402 113940402 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:113940402G>A uc002tjc.3 + 1 552 c.369G>A c.(367-369)agG>agA p.R123R PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.R122R|PSD4_uc002tjf.3_5'Flank NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA. 123 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTGCCCAGAGGGAGCACAGGC 0.612000 45 11 0 0 0.00185496 0 0 AMBN 258 broad.mit.edu 37 4 71467169 71467169 + Missense_Mutation SNP T G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:71467169T>G uc003hfl.3 + 5 430 c.329T>G c.(328-330)cTc>cGc p.L110R NM_016519 NP_057603 Q9NP70 AMBN_HUMAN Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA. 110 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29 Lung(101;0.235) CCCCCACCTCTCCCATCACAG 0.483000 OREG0016218 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 113 49 0 0 0.000781405 0 0 KLHL4 56062 broad.mit.edu 37 X 86773011 86773011 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:86773011G>A uc004efa.2 + 0 297 c.115G>A c.(115-117)Gaa>Aaa p.E39K KLHL4_uc004efb.2_Missense_Mutation_p.E39K NM_057162 NP_476503 Q9C0H6 KLHL4_HUMAN Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA. 39 cytoplasm|microtubule cytoskeleton|nucleolus actin binding p.Q38R(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 TCTTCAGCAGGAAGGATATGA 0.498000 19 20 0 0 0.00121646 0 0 KRT26 353288 broad.mit.edu 37 17 38928098 38928098 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:38928098G>A uc002hvf.3 - 0 314 c.268C>T c.(268-270)Ctc>Ttc p.L90F NM_181539 NP_853517 Q7Z3Y9 K1C26_HUMAN Homo sapiens keratin 26 (KRT26), mRNA. 90 Coil 1A.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) CGGTCGTTGAGATTCTGCATG 0.547000 79 26 0 0 0.00178596 0 0 C8A 731 broad.mit.edu 37 1 57347218 57347218 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:57347218C>T uc001cyo.2 + 4 697 c.565C>T c.(565-567)Cga>Tga p.R189* NM_000562 NP_000553 P07357 CO8A_HUMAN Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA. 189 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 GAGGGAGCTTCGATATGACTC 0.453000 29 15 0 0 0.00074312 0 0 FUT3 2525 broad.mit.edu 37 19 5844594 5844594 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:5844594G>A uc002mdk.2 - 1 354 c.257C>T c.(256-258)cCc>cTc p.P86L FUT3_uc002mdm.2_Missense_Mutation_p.P86L|FUT3_uc002mdj.2_Missense_Mutation_p.P86L|FUT3_uc002mdl.2_Missense_Mutation_p.P86L|FUT3_uc021unn.1_Missense_Mutation_p.P86L|BC033124_uc002mdn.3_5'Flank NM_001097641 NP_001091110 P21217 FUT3_HUMAN Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA. 86 protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity p.V85L(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 GGCTGTGCCGGGCACCATCTC 0.607000 107 29 0 0 0.00178596 0 0 GRIN2B 2904 broad.mit.edu 37 12 13828756 13828756 + Missense_Mutation SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:13828756A>T uc001rbt.2 - 3 1227 c.1048T>A c.(1048-1050)Tcc>Acc p.S350T NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 350 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCACTGAAGGACAAATTCCTC 0.398000 24 16 0 0 0.00074312 0 0 INSC 387755 broad.mit.edu 37 11 15212315 15212315 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:15212315C>T uc001mlz.3 + 5 759 c.648C>T c.(646-648)ttC>ttT p.F216F INSC_uc001mly.3_Silent_p.F263F|INSC_uc001mma.3_Silent_p.F216F|INSC_uc010rcs.2_Silent_p.F251F|INSC_uc001mmb.3_Silent_p.F216F|INSC_uc001mmc.3_Silent_p.F216F NM_001042536 NP_001036001 Q1MX18 INSC_HUMAN Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA. 263 V -> M (in Ref. 2; BAE17135). cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 GGAACCTGTTCAGCCTGACCC 0.507000 42 34 0 0 0.00170553 0 0 PCDH18 54510 broad.mit.edu 37 4 138453134 138453134 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:138453134C>T uc003ihe.4 - 0 496 c.109G>A c.(109-111)Gaa>Aaa p.E37K PCDH18_uc003ihf.4_Missense_Mutation_p.E30K|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 37 Cadherin 1. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) ACCCTCTGTTCCTCATAAATC 0.383000 49 22 0 0 0.00188189 0 0 KIAA0586 9786 broad.mit.edu 37 14 58949281 58949281 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:58949281C>T uc010trr.2 + 22 3398 c.3154C>T c.(3154-3156)Cct>Tct p.P1052S KIAA0586_uc001xdu.4_Missense_Mutation_p.P984S|KIAA0586_uc010trs.2_Missense_Mutation_p.P914S|KIAA0586_uc001xdt.4_Missense_Mutation_p.P955S|KIAA0586_uc001xdv.4_Missense_Mutation_p.P923S|KIAA0586_uc010trt.2_Missense_Mutation_p.P859S|KIAA0586_uc010tru.1_Missense_Mutation_p.P859S NM_001244189 NP_001231118 E9PGW8 E9PGW8_HUMAN Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA. 923 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TGCTGGTGTTCCTGTGAACTC 0.423000 46 9 0 0 0.000274275 0 0 PPFIA2 8499 broad.mit.edu 37 12 81688756 81688756 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:81688756C>T uc001szo.2 - 23 2944 c.2783G>A c.(2782-2784)gGt>gAt p.G928D PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.G854D|PPFIA2_uc021rbh.1_Missense_Mutation_p.G829D|PPFIA2_uc021rbi.1_Missense_Mutation_p.G928D|PPFIA2_uc021rbj.1_Missense_Mutation_p.G928D|PPFIA2_uc021rbk.1_Missense_Mutation_p.G913D|PPFIA2_uc021rbl.1_Missense_Mutation_p.G928D|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.G495D|PPFIA2_uc021rbf.1_Missense_Mutation_p.G145D NM_003625 NP_003616 B7Z663 B7Z663_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA. 854 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 CATGATGGCACCACTCTTCAC 0.438000 9 9 0 0 0.00136819 0 0 BEST2 54831 broad.mit.edu 37 19 12866691 12866691 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:12866691C>T uc002mux.3 + 6 890 c.890C>T c.(889-891)cCc>cTc p.P297L NM_017682 NP_060152 Q8NFU1 BEST2_HUMAN Homo sapiens bestrophin 2 (BEST2), mRNA. 297 membrane depolarization|sensory perception of smell chloride channel complex|cilium|plasma membrane chloride channel activity breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1) 12 CTCATCAACCCCTTCGGAGAG 0.537000 61 14 0 0 0.00074312 0 0 abParts 0 broad.mit.edu 37 14 107062360 107062360 + RNA SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:107062360A>G uc021ser.1 - 150 c.6626T>C Parts of antibodies, mostly variable regions. GACAGCGCAGATGAGGGACAG 0.612000 56 5 0 0 0.00116845 0 0 CD22 933 broad.mit.edu 37 19 35823503 35823503 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:35823503G>A uc010edt.3 + 2 172 c.88G>A c.(88-90)Gaa>Aaa p.E30K CD22_uc010edu.3_Missense_Mutation_p.E30K|CD22_uc010edv.3_Missense_Mutation_p.E30K|CD22_uc002nzb.4_Missense_Mutation_p.E30K|CD22_uc010xst.2_5'UTR NM_001771 NP_001762 P20273 CD22_HUMAN Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA. 30 Ig-like V-type. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) TGAGCACCCTGAAACCCTCTA 0.512000 80 23 0 0 0.00188189 0 0 GPR133 283383 broad.mit.edu 37 12 131490580 131490580 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:131490580C>T uc010tbm.2 + 12 1974 c.1415C>T c.(1414-1416)cCc>cTc p.P472L GPR133_uc001uit.4_Missense_Mutation_p.P440L NM_198827 NP_942122 Q6QNK2 GP133_HUMAN Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA. 440 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) AACATCTGGCCCGCCCACACC 0.657000 27 6 0 0 0.00116845 0 0 ESR1 2099 broad.mit.edu 37 6 152382133 152382133 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:152382133G>A uc010kio.3 + 6 1467 c.1249G>A c.(1249-1251)Gga>Aga p.G417R ESR1_uc003qom.4_Missense_Mutation_p.G415R|ESR1_uc010kin.3_Missense_Mutation_p.G415R|ESR1_uc010kip.3_Missense_Mutation_p.G414R|ESR1_uc003qon.4_Missense_Mutation_p.G415R|ESR1_uc010kir.3_Missense_Mutation_p.G154R|ESR1_uc003qoo.4_Missense_Mutation_p.G415R|ESR1_uc010kiq.3_Missense_Mutation_p.G13R|ESR1_uc021zgz.1_Intron|ESR1_uc011eeu.2_Non-coding_Transcript|ESR1_uc011eev.2_Intron|ESR1_uc011eew.2_Intron|ESR1_uc011eet.2_Intron|ESR1_uc010kis.3_Missense_Mutation_p.G130R|ESR1_uc021zha.1_Intron|ESR1_uc011eex.2_Intron|ESR1_uc010kit.1_Silent_p.R105R|ESR1_uc011eey.2_Missense_Mutation_p.G152R NM_001122742 NP_001116214 P03372 ESR1_HUMAN Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA. 415 Interaction with AKAP13.|Steroid-binding. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) TAGGAACCAGGGAAAATGTGT 0.383000 3 9 0 0 0.000274275 0 0 CCDC13 152206 broad.mit.edu 37 3 42775094 42775094 + Missense_Mutation SNP C A A rs143411503 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:42775094C>A uc003cly.4 - 10 1463 c.1379G>T c.(1378-1380)cGg>cTg p.R460L NM_144719 NP_653320 Q8IYE1 CCD13_HUMAN Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA. 460 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 TCCTTTATTCCGAAGATACTG 0.587000 72 5 0.00198382 0.00716019 0.00198382 1 0 CAPN5 726 broad.mit.edu 37 11 76823638 76823639 + Missense_Mutation DNP AT TA TA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:76823638_76823639AT>TA uc009yup.3 + 4 606_607 c.421_422AT>TA c.(421-423)atc>TAc p.I141Y CAPN5_uc001oxx.3_Missense_Mutation_p.I101Y|CAPN5_uc009yuq.3_Missense_Mutation_p.I137Y|CAPN5_uc001oxy.3_Missense_Mutation_p.I141Y NM_004055 NP_004046 O15484 CAN5_HUMAN Homo sapiens calpain 5 (CAPN5), mRNA. 101 Calpain catalytic. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 TACCCAGGTCATCCCAGACTGG 0.614000 16 8 0 0 6.4e-05 0 0 ATP13A5 344905 broad.mit.edu 37 3 193068932 193068932 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:193068932C>T uc011bsq.2 - 6 665 c.665G>A c.(664-666)gGt>gAt p.G222D NM_198505 NP_940907 Q4VNC0 AT135_HUMAN Homo sapiens ATPase type 13A5 (ATP13A5), mRNA. 222 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding 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) TTCTATGTAACCTTGAGACAG 0.418000 35 10 0 0 0.000673444 0 0 LATS1 9113 broad.mit.edu 37 6 150004522 150004522 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:150004522G>A uc003qmu.1 - 3 2251 c.1703C>T c.(1702-1704)cCa>cTa p.P568L LATS1_uc010kif.1_Missense_Mutation_p.P463L|LATS1_uc003qmv.2_Missense_Mutation_p.P568L|LATS1_uc003qmw.3_Missense_Mutation_p.P568L|LATS1_uc010kig.1_Missense_Mutation_p.P463L NM_004690 NP_004681 O95835 LATS1_HUMAN Homo sapiens LATS, large tumor suppressor, homolog 1 (Drosophila) (LATS1), mRNA. 568 Interaction with YAP1. G2/M transition of mitotic cell cycle|cell division|cytoplasmic sequestering of protein|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) AGGAACAGATGGGTTTTGGTG 0.468000 58 48 0 0 0.000781405 0 0 C3orf25 90288 broad.mit.edu 37 3 129140478 129140478 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:129140478G>A uc003emg.3 - 1 381 c.218C>T c.(217-219)cCt>cTt p.P73L NM_207307 NP_997190 Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA. breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2) 23 TTGGGATGCAGGATTAAGGGG 0.572000 30 12 0 0 0.00185496 0 0 METAP2 10988 broad.mit.edu 37 12 95887837 95887837 + Missense_Mutation SNP C G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:95887837C>G uc001tec.3 + 4 568 c.434C>G c.(433-435)aCa>aGa p.T145R METAP2_uc010suv.2_Missense_Mutation_p.T122R|METAP2_uc001tef.3_Missense_Mutation_p.T122R|METAP2_uc001tee.3_Non-coding_Transcript NM_006838 NP_006829 P50579 AMPM2_HUMAN Homo sapiens methionyl aminopeptidase 2 (METAP2), mRNA. 145 N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|large_intestine(2)|lung(7)|prostate(1) 13 L-Methionine(DB00134) TAAAGGCGAACAGCTGCTTGG 0.373000 19 29 0 0 0.00127121 0 0 CHSY1 22856 broad.mit.edu 37 15 101718740 101718740 + Missense_Mutation SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:101718740T>C uc021sxt.1 - 2 1738 c.1262A>G c.(1261-1263)aAg>aGg p.K421R CHSY1_uc010usd.2_Missense_Mutation_p.K149R NM_014918 NP_055733 Q86X52 CHSS1_HUMAN Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA. 421 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CCCTCTGGTCTTGGCGTTGGC 0.572000 42 28 0 0 0.00209593 0 0 DPYSL4 10570 broad.mit.edu 37 10 134014413 134014413 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:134014413G>A uc009ybb.3 + 9 1190 c.1036G>A c.(1036-1038)Gac>Aac p.D346N NM_006426 NP_006417 O14531 DPYL4_HUMAN Homo sapiens dihydropyrimidinase-like 4 (DPYSL4), mRNA. 346 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) TGTGGGCAAGGACAACTTCGC 0.647000 41 15 0 0 0.000308642 0 0 AGBL1 123624 broad.mit.edu 37 15 86801215 86801215 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:86801215G>A uc002blz.1 + 7 864 c.784G>A c.(784-786)Gat>Aat p.D262N NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA. 262 Asp-rich. C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 AGATGATGGCGATGATGAAGT 0.433000 66 33 0 0 0.00111076 0 0 ITPR1 3708 broad.mit.edu 37 3 4714885 4714885 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:4714885C>T uc003bqc.3 + 19 2575 c.2225C>T c.(2224-2226)tCa>tTa p.S742L ITPR1_uc021wsi.1_Missense_Mutation_p.S757L|ITPR1_uc021wsj.1_Missense_Mutation_p.S742L|ITPR1_uc011asu.2_Intron NM_001168272 NP_001161744 Q14643 ITPR1_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA. 757 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) AACGAAATCTCAGGCCAGCTG 0.547000 33 9 0 0 0.000274275 0 0 PDE6C 5146 broad.mit.edu 37 10 95400711 95400711 + Missense_Mutation SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:95400711A>T uc001kiu.4 + 13 1910 c.1772A>T c.(1771-1773)gAa>gTa p.E591V NM_006204 NP_006195 P51160 PDE6C_HUMAN Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA. 591 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) ACAGATCTCGAAGCCTTTGCC 0.348000 18 13 0 0 0.000308642 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884106 228884106 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:228884106G>A uc002vpq.2 - 6 1511 c.1464C>T c.(1462-1464)tcC>tcT p.S488S SPHKAP_uc002vpp.2_Silent_p.S488S|SPHKAP_uc010zlx.1_Silent_p.S488S NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 488 cytoplasm protein binding p.S488F(1) NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GTTGTCTGCTGGAGTTCTCTC 0.532000 41 17 0 0 0.00074312 0 0 SRD5A1 6715 broad.mit.edu 37 5 6633926 6633927 + Missense_Mutation DNP CC TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:6633926_6633927CC>TT uc003jdw.3 + 0 427_428 c.237_238CC>TT c.(235-240)ctccgc>ctTTgc p.R80C NSUN2_uc003jdu.3_5'Flank|NSUN2_uc011cmk.2_5'Flank|NSUN2_uc003jdv.3_5'Flank|SRD5A1_uc011cml.2_Non-coding_Transcript|SRD5A1_uc011cmm.2_Missense_Mutation_p.S88F NM_001047 NP_001038 P18405 S5A1_HUMAN Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) (SRD5A1), mRNA. 80 androgen biosynthetic process|cell differentiation|sex determination|sex differentiation endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity p.L79L(2) endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Dutasteride(DB01126)|Finasteride(DB01216) CCCCGCGTCTCCGCAGCGCGCC 0.738000 37 7 0 0 6.4e-05 0 0 CD86 942 broad.mit.edu 37 3 121822506 121822506 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:121822506G>A uc003eet.3 + 2 340 c.212G>A c.(211-213)gGc>gAc p.G71D CD86_uc011bjo.2_5'UTR|CD86_uc011bjp.2_Intron|CD86_uc003eeu.3_Missense_Mutation_p.G65D|CD86_uc021xcz.1_Missense_Mutation_p.G65D NM_175862 NP_008820 P42081 CD86_HUMAN Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA. 71 Ig-like V-type. T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) GTATACTTAGGCAAAGAGAAA 0.433000 41 18 0 0 0.00121646 0 0 BAI3 577 broad.mit.edu 37 6 69348981 69348981 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:69348981C>T uc010kak.3 + 1 690 c.414C>T c.(412-414)ttC>ttT p.F138F BAI3_uc003pev.4_Silent_p.F138F NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 138 CUB. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) CAACTAATTTCCCAGGATTAC 0.333000 23 10 0 0 0.000978159 0 0 RYR3 6263 broad.mit.edu 37 15 33916059 33916059 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:33916059C>T uc001zhi.3 + 19 2479 c.2409C>T c.(2407-2409)ccC>ccT p.P803P RYR3_uc010bar.3_Silent_p.P803P NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 803 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCCTGCCTCCCTCTGGCTATG 0.423000 69 21 0 0 0.00278032 0 0 IBA57 200205 broad.mit.edu 37 1 228363208 228363208 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:228363208C>T uc001hsl.4 + 2 1154 c.1065C>T c.(1063-1065)tcC>tcT p.S355S IBA57_uc010pvw.2_Silent_p.S162S NM_001010867 NP_001010867 Q5T440 CAF17_HUMAN Homo sapiens IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) (IBA57), mRNA. 355 glycine catabolic process|heme biosynthetic process mitochondrion aminomethyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1) 11 CTACAGTCTCCAAGTAGTCCG 0.627000 113 25 0 0 0.000878237 0 0 PXDN 7837 broad.mit.edu 37 2 1652631 1652631 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:1652631C>T uc002qxa.3 - 16 2985 c.2921G>A c.(2920-2922)gGg>gAg p.G974E NM_012293 NP_036425 Q92626 PXDN_HUMAN Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA. 974 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GCGGTGGTCCCCGGCCAGGAA 0.697000 4 12 0 0 0.00185496 0 0 MYH3 4621 broad.mit.edu 37 17 10538243 10538243 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:10538243C>T uc002gmq.2 - 30 4358 c.4270G>A c.(4270-4272)Gga>Aga p.G1424R NM_002470 NP_002461 P11055 MYH3_HUMAN Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA. 1424 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TCCACCTCTCCTTGCAGCCTC 0.512000 57 45 0 0 0.000781405 0 0 CCKAR 886 broad.mit.edu 37 4 26491787 26491787 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:26491787G>A uc003gse.1 - 0 256 c.103C>T c.(103-105)Cct>Tct p.P35S NM_000730 NP_000721 P32238 CCKAR_HUMAN Homo sapiens cholecystokinin A receptor (CCKAR), mRNA. 35 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) CCTTTGGAAGGACGGGGCTGA 0.438000 31 11 0 0 0.00136819 0 0 CXADRP3 440224 broad.mit.edu 37 18 14478427 14478427 + RNA SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:14478427C>T uc010xai.2 - 2 c.1137G>A Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA. GGCGGCACATCTTCCCTGATA 0.458000 7 4 0 0 0.000602214 0 0 RCVRN 5957 broad.mit.edu 37 17 9808255 9808255 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:9808255C>T uc002gme.1 - 0 430 c.243G>A c.(241-243)ctG>ctA p.L81L NM_002903 NP_002894 P35243 RECO_HUMAN Homo sapiens recoverin (RCVRN), mRNA. 81 EF-hand 2. visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1) 12 CCTTGAAGTCCAGGGTGCCGT 0.602000 15 22 0 0 0.00188189 0 0 MAGEC3 139081 broad.mit.edu 37 X 140985541 140985541 + Missense_Mutation SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:140985541A>T uc011mwp.2 + 7 1855 c.1855A>T c.(1855-1857)Att>Ttt p.I619F MAGEC3_uc004fbs.3_3'UTR|MAGEC3_uc010nsj.3_3'UTR NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA. 619 MAGE 2. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) CCAGGCCATAATTGACACCAC 0.483000 1 43 0 0 0.000680045 0 0 HOOK1 51361 broad.mit.edu 37 1 60302572 60302572 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:60302572C>T uc009wad.3 + 7 604 c.502C>T c.(502-504)Cct>Tct p.P168S HOOK1_uc001czo.3_Missense_Mutation_p.P168S|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Missense_Mutation_p.P126S NM_015888 NP_056972 Q9UJC3 HOOK1_HUMAN Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA. 168 Sufficient for interaction with microtubules. early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1) 29 all_cancers(7;0.000129) ATTGAGCTCTCCTCCAAATGA 0.299000 52 17 0 0 0.000958276 0 0 CCDC83 220047 broad.mit.edu 37 11 85597391 85597391 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:85597391G>A uc001pbg.1 + 4 1004 c.492G>A c.(490-492)gaG>gaA p.E164E CCDC83_uc001pbh.1_Silent_p.E164E|CCDC83_uc001pbj.1_Intron|CCDC83_uc001pbi.1_Non-coding_Transcript NM_173556 NP_775827 Q8IWF9 CCD83_HUMAN Homo sapiens coiled-coil domain containing 83 (CCDC83), mRNA. 164 breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) CAGTTAAAGAGAATGCAGAGA 0.363000 9 6 0 0 0.00116845 0 0 CENPE 1062 broad.mit.edu 37 4 104067125 104067125 + Missense_Mutation SNP C T T rs113334734 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:104067125C>T uc003hxb.1 - 29 4364 c.4274G>A c.(4273-4275)gGa>gAa p.G1425E CENPE_uc003hxc.1_Missense_Mutation_p.G1400E NM_001813 NP_001804 Q02224 CENPE_HUMAN Homo sapiens centromere protein E, 312kDa (CENPE), mRNA. 1425 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity p.L1424V(1) NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TTTGGACAATCCGAGCATTTC 0.368000 99 32 0 0 0.0024448 0 0 CCR6 1235 broad.mit.edu 37 6 167550831 167550831 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:167550831C>T uc003qvl.3 + 12 3589 c.1113C>T c.(1111-1113)tcC>tcT p.S371S CCR6_uc010kkm.3_Silent_p.S371S|CCR6_uc003qvn.4_Silent_p.S371S|CCR6_uc003qvm.4_Silent_p.S371S NM_031409 NP_113597 P51684 CCR6_HUMAN Homo sapiens chemokine (C-C motif) receptor 6 (CCR6), transcript variant 2, mRNA. 371 SSFTM -> VVLHYVIES (in Ref. 4; AAB06949). cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 14 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) ATGCGTCGTCCTTCACTATGT 0.458000 20 14 0 0 0.000422831 0 0 OR2M7 391196 broad.mit.edu 37 1 248487377 248487377 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:248487377G>A uc010pzk.2 - 0 494 c.494C>T c.(493-495)tCc>tTc p.S165F NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA. 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTAGGAGAAGGAAAATGTCGC 0.453000 85 44 0 0 0.000781405 0 0 MC4R 4160 broad.mit.edu 37 18 58038893 58038893 + Silent SNP G A A rs148026669 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:58038893G>A uc002lie.1 - 0 1109 c.690C>T c.(688-690)ccC>ccT p.P230P NM_005912 NP_005903 P32245 MC4R_HUMAN Homo sapiens melanocortin 4 receptor (MC4R), mRNA. 230 G-protein signaling, coupled to cAMP nucleotide second messenger|feeding behavior|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding p.P230P(2) endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(73;0.0946) CACCAGTGCCGGGGAGGACAG 0.532000 54 13 0 0 0.00136819 0 0 GPR171 29909 broad.mit.edu 37 3 150916724 150916724 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:150916724C>T uc003eyq.4 - 2 690 c.450G>A c.(448-450)atG>atA p.M150I MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|GPR171_uc021xfy.1_Missense_Mutation_p.M150I NM_013308 NP_037440 O14626 GP171_HUMAN Homo sapiens G protein-coupled receptor 171 (GPR171), mRNA. 150 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 15 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGGGAATCATCATATTTGGCA 0.378000 60 24 0 0 0.00278032 0 0 ARHGEF37 389337 broad.mit.edu 37 5 149008485 149008485 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:149008485G>A uc003lra.1 + 11 1838 c.1774G>A c.(1774-1776)Gag>Aag p.E592K NM_001001669 NP_001001669 A1IGU5 ARH37_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA. 592 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3) 17 TCTAACACCGGAGCCCAGCCC 0.612000 17 9 0 0 0.000442599 0 0 IWS1 55677 broad.mit.edu 37 2 128262702 128262702 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:128262702C>T uc002ton.2 - 2 1080 c.777G>A c.(775-777)caG>caA p.Q259Q IWS1_uc010yzl.1_Non-coding_Transcript|BC022892_uc002too.1_5'Flank|IWS1_uc010fma.2_Non-coding_Transcript NM_017969 NP_060439 Q96ST2 IWS1_HUMAN Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA. 259 3 X approximate tandem repeats.|Glu-rich. transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) AGTCACTGGCCTGGTGCCTCG 0.537000 142 52 0 0 0.000781405 0 0 GTPBP1 9567 broad.mit.edu 37 22 39122340 39122340 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:39122340C>T uc003awg.3 + 7 1450 c.1296C>T c.(1294-1296)gaC>gaT p.D432D NM_004286 NP_004277 O00178 GTPB1_HUMAN Homo sapiens GTP binding protein 1 (GTPBP1), mRNA. 432 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) TGGGCCCAGACCCCTTGGGTA 0.592000 41 56 0 0 0.000781405 0 0 SRBD1 55133 broad.mit.edu 37 2 45645518 45645518 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:45645518G>A uc002rus.3 - 17 2395 c.2319C>T c.(2317-2319)atC>atT p.I773I SRBD1_uc010yoc.2_Silent_p.I292I NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA. 773 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process RNA binding|hydrolase activity, acting on ester bonds NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) AAAACGTTCGGATATAATCCT 0.413000 85 27 0 0 0.000692331 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51629048 51629048 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:51629048G>A uc010yct.2 + 1 711 c.616G>A c.(616-618)Gac>Aac p.D206N SIGLEC9_uc002pvu.3_Missense_Mutation_p.D206N NM_001198558 NP_001185487 Q9Y336 SIGL9_HUMAN Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA. 206 Ig-like C2-type 1. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding p.Q205R(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) ACAGCCCCAGGACCATGGCAC 0.657000 32 46 0 0 0.00285205 0 0 TTC12 54970 broad.mit.edu 37 11 113210067 113210067 + Missense_Mutation SNP G C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:113210067G>C uc001pnv.3 + 9 820 c.715G>C c.(715-717)Gaa>Caa p.E239Q TTC12_uc001pnu.3_Missense_Mutation_p.E233Q|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Missense_Mutation_p.E83Q NM_017868 NP_060338 Q9H892 TTC12_HUMAN Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA. 233 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) GGAAGCCCACGAACTGCTGGA 0.463000 37 22 0 0 0.00278032 0 0 TMEM176B 28959 broad.mit.edu 37 7 150493629 150493629 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:150493629C>T uc022apx.1 - 0 155 c.29G>A c.(28-30)gGa>gAa p.G10E TMEM176B_uc003whu.4_Missense_Mutation_p.G10E|TMEM176B_uc003whv.4_Missense_Mutation_p.G10E|TMEM176B_uc003whw.4_Missense_Mutation_p.G10E NM_014020 NP_054739 Q3YBM2 T176B_HUMAN Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA. 10 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CATAGCAACTCCATTCACAAT 0.537000 38 54 0 0 0.000781405 0 0 CFH 3075 broad.mit.edu 37 1 196706692 196706692 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:196706692C>T uc001gtj.4 + 16 2924 c.2684C>T c.(2683-2685)aCt>aTt p.T895I CFH_uc021pgt.1_Intron NM_000186 NP_000177 P08603 CFAH_HUMAN Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 895 Sushi 15. complement activation, alternative pathway extracellular space p.G894G(1) NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 GCACATGGGACTAAATTGAGT 0.383000 36 7 0 0 0.00198382 0 0 TEX29 121793 broad.mit.edu 37 13 111995208 111995208 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:111995208G>A uc001vsa.3 + 4 474 c.345G>A c.(343-345)ggG>ggA p.G115G NM_152324 NP_689537 Q8N6K0 CM016_HUMAN Homo sapiens chromosome 13 open reading frame 16 (C13orf16), mRNA. 115 integral to membrane GCAAGTTAGGGCTGAAGCCTG 0.562000 1 46 0 0 0.000781405 0 0 ZNF883 169834 broad.mit.edu 37 9 115760208 115760208 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:115760208G>A uc011lwy.2 - 4 1571 c.332C>T c.(331-333)tCc>tTc p.S111F NM_001101338 NP_001094808 P0CG24 ZN883_HUMAN Homo sapiens zinc finger protein 883 (ZNF883), mRNA. 111 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ATTTCTAAGGGATGACCTATG 0.383000 49 16 0 0 0.000308642 0 0 SCN1A 6323 broad.mit.edu 37 2 166892893 166892893 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:166892893C>T uc002udo.4 - 17 3321 c.3094G>A c.(3094-3096)Gaa>Aaa p.E1032K SCN1A_uc010fpk.3_Missense_Mutation_p.E1004K|SCN1A_uc021vsb.1_Missense_Mutation_p.E1021K NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 1032 voltage-gated sodium channel complex voltage-gated sodium channel activity p.K1032N(1) 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) TGAATAAATTCATATATTTTT 0.323000 45 16 0 0 0.000566183 0 0 CNOT3 4849 broad.mit.edu 37 19 54649670 54649670 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:54649670C>T uc002qdj.2 + 8 1052 c.728C>T c.(727-729)cCt>cTt p.P243L CNOT3_uc010yel.2_Missense_Mutation_p.P243L|CNOT3_uc002qdi.3_Missense_Mutation_p.P156L|CNOT3_uc002qdk.2_Missense_Mutation_p.P243L|CNOT3_uc010ere.2_Non-coding_Transcript NM_014516 NP_055331 O75175 CNOT3_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA. 243 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCCACCTCCCCTCCCAGCCAC 0.637000 53 14 0 0 0.000566183 0 0 UGT2B28 54490 broad.mit.edu 37 4 70156526 70156526 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:70156526C>T uc003hej.3 + 4 1309 c.1307C>T c.(1306-1308)cCt>cTt p.P436L UGT2B28_uc010ihr.3_Intron NM_053039 NP_444267 Q9BY64 UDB28_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA. 436 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) ATTAATGATCCTTCGTGAGTA 0.398000 5 9 0 0 0.000442599 0 0 CLEC4E 26253 broad.mit.edu 37 12 8687247 8687247 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:8687247C>T uc001quo.1 - 5 812 c.647G>A c.(646-648)gGa>gAa p.G216E NM_014358 NP_055173 Q9ULY5 CLC4E_HUMAN Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA. 216 integral to membrane sugar binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Lung SC(5;0.184) AAGAGATTTTCCTTTGTTCAA 0.408000 35 16 0 0 0.000422831 0 0 LUC7L 55692 broad.mit.edu 37 16 256035 256035 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:256035C>T uc002cgc.1 - 4 589 c.478G>A c.(478-480)Gaa>Aaa p.E160K LUC7L_uc002cga.1_Missense_Mutation_p.E160K|LUC7L_uc002cgd.1_Non-coding_Transcript|LUC7L_uc002cge.1_Missense_Mutation_p.E160K|LUC7L_uc021szo.1_Missense_Mutation_p.E107K|LUC7L_uc002cgb.1_Missense_Mutation_p.E74K NM_201412 NP_958815 Q9NQ29 LUC7L_HUMAN Homo sapiens LUC7-like (S. cerevisiae) (LUC7L), transcript variant 2, mRNA. 160 metal ion binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 11 all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306) CGAACTTTTTCCACTTCCATA 0.413000 106 34 0 0 0.00058488 0 0 CDH6 1004 broad.mit.edu 37 5 31322980 31322980 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:31322980C>T uc003jhe.2 + 11 2298 c.1938C>T c.(1936-1938)atC>atT p.I646I NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 646 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AGCCTTTGATCATTTCCAAAG 0.463000 47 22 0 0 0.00047179 0 0 CEACAM5 1048 broad.mit.edu 37 19 42223929 42223929 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:42223929C>T uc002orl.3 + 6 1694 c.1573C>T c.(1573-1575)Cct>Tct p.P525S CEACAM5_uc002orj.1_Missense_Mutation_p.P524S NM_004363 NP_004354 P06731 CEAM5_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA. 525 Ig-like 6. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CACCTGTGAACCTGAGGCTCA 0.567000 85 67 0 0 0.000781405 0 0 OLFML2A 169611 broad.mit.edu 37 9 127563899 127563899 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:127563899C>T uc004bov.3 + 4 989 c.876C>T c.(874-876)acC>acT p.T292T OLFML2A_uc010mwr.1_Silent_p.T256T|OLFML2A_uc004bow.3_Silent_p.T78T NM_182487 NP_872293 Q68BL7 OLM2A_HUMAN Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA. 292 endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 GGGGCTTCACCTACTACAAGG 0.637000 14 25 0 0 0.00127121 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966780 41966780 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:41966780G>A uc010skn.2 + 9 2207 c.2199G>A c.(2197-2199)aaG>aaA p.K733K PDZRN4_uc001rmq.4_Silent_p.K475K|PDZRN4_uc009zjz.3_Silent_p.K473K|PDZRN4_uc001rmr.3_Silent_p.K360K NM_001164595 NP_001158067 Q6ZMN7 PZRN4_HUMAN Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA. 733 ubiquitin-protein ligase activity|zinc ion binding p.L732R(1) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) AGTCTGACAAGGACAGTTCTA 0.478000 61 24 0 0 0.00278032 0 0 ABCC2 1244 broad.mit.edu 37 10 101563847 101563847 + Missense_Mutation SNP T G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:101563847T>G uc001kqf.2 + 9 1420 c.1281T>G c.(1279-1281)gaT>gaG p.D427E NM_000392 NP_000383 Q92887 MRP2_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA. 427 ABC transmembrane type-1 1. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TGTCTGTGGATGCCCAGAAGC 0.458000 22 13 0 0 0.00185496 0 0 PTPRB 5787 broad.mit.edu 37 12 71029509 71029509 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:71029509C>T uc001swc.4 - 1 438 c.393G>A c.(391-393)atG>atA p.M131I PTPRB_uc001swa.4_Missense_Mutation_p.M131I|PTPRB_uc001swd.4_Missense_Mutation_p.M130I|PTPRB_uc009zrr.2_Intron|PTPRB_uc001swe.3_Missense_Mutation_p.M131I NM_001109754 NP_001103224 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA. 0 Fibronectin type-III 2. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CATCTATTTTCATCCAGCTAT 0.438000 29 11 0 0 0.000978159 0 0 UBXN2B 137886 broad.mit.edu 37 8 59352256 59352256 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:59352256C>T uc003xtl.3 + 5 720 c.598C>T c.(598-600)Cat>Tat p.H200Y NM_001077619 NP_001071087 Q14CS0 UBX2B_HUMAN Homo sapiens UBX domain protein 2B (UBXN2B), mRNA. 200 SEP. Golgi apparatus|cytosol|endoplasmic reticulum|nucleus p.D199N(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 TATGGAGGATCATCAGGATCA 0.383000 55 27 0 0 0.000878237 0 0 SH3RF2 153769 broad.mit.edu 37 5 145393508 145393508 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:145393508C>T uc003lnt.3 + 4 1181 c.943C>T c.(943-945)Cct>Tct p.P315S SH3RF2_uc011dbl.1_Missense_Mutation_p.P315S NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA. 315 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGTCCATTCTCCTTCAGGGCG 0.577000 30 43 0 0 0.000781405 0 0 LOC401010 401010 broad.mit.edu 37 2 132201396 132201396 + Silent SNP G A A rs140401332 by1000genomes TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:132201396G>A uc002tst.2 - 0 1072 c.606C>T c.(604-606)ttC>ttT p.F202F Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA. TGAAACTGATGAAGGGGAGGG 0.592000 22 22 0 0 0.00278032 0 0 RAB40C 57799 broad.mit.edu 37 16 677503 677503 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:677503C>T uc021szt.1 + 6 949 c.727C>T c.(727-729)Ctg>Ttg p.L243L RAB40C_uc021szu.1_Silent_p.L243L|RAB40C_uc021szv.1_Silent_p.L243L|RAB40C_uc002chq.3_Silent_p.L224L|RAB40C_uc002chr.3_Silent_p.L243L|AK128777_uc002chs.1_5'Flank NM_001172663 NP_066991 Q96S21 RB40C_HUMAN Homo sapiens RAB40C, member RAS oncogene family (RAB40C), transcript variant 1, mRNA. 243 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 6 Hepatocellular(780;0.0218) TTCCTACTCCCTGGCCAGCGG 0.657000 68 34 0 0 0.000953801 0 0 ABCB4 5244 broad.mit.edu 37 7 87032569 87032569 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:87032569C>T uc003uiv.1 - 26 3612 c.3536G>A c.(3535-3537)gGg>gAg p.G1179E ABCB4_uc003uiw.1_Missense_Mutation_p.G1172E|ABCB4_uc003uix.1_Missense_Mutation_p.G1125E NM_018849 NP_061337 P21439 MDR3_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA. 1179 ABC transporter 2. cellular lipid metabolic process Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) GAGCTGAGTCCCCTTATCTCC 0.408000 88 36 0 0 0.00128727 0 0 TTN 7273 broad.mit.edu 37 2 179466271 179466271 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179466271C>T uc021vsy.1 - 235 47974 c.47749G>A c.(47749-47751)Gat>Aat p.D15917N MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D9612N|TTN_uc021vta.1_Missense_Mutation_p.D9545N|TTN_uc021vtb.1_Missense_Mutation_p.D9420N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 16844 Fibronectin type-III 15. 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) ACTTTCAGATCTTTGGGTGGG 0.388000 61 21 0 0 0.00278032 0 0 FAM90A1 55138 broad.mit.edu 37 12 8374907 8374907 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:8374907C>T uc001qui.2 - 6 1465 c.906G>A c.(904-906)ctG>ctA p.L302L FAM90A1_uc001quh.2_Silent_p.L302L NM_018088 NP_060558 Q86YD7 F90A1_HUMAN Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA. 302 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) TGGGGAAGTTCAGGCAAGCCT 0.642000 69 9 0 0 0.000673444 0 0 SYNE1 23345 broad.mit.edu 37 6 152655162 152655162 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:152655162C>T uc021zhb.1 - 74 12998 c.12775G>A c.(12775-12777)Gaa>Aaa p.E4259K SYNE1_uc003qot.4_Missense_Mutation_p.E4188K|SYNE1_uc003qou.4_Missense_Mutation_p.E4259K|SYNE1_uc010kiz.3_Missense_Mutation_p.E14K NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 4259 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding p.E4259K(3)|p.E4188K(1) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTATCCCATTCTGTAGTAAAT 0.373000 HNSCC(10;0.0054) 67 49 0 0 0.000781405 0 0 HEATR2 54919 broad.mit.edu 37 7 825182 825182 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:825182C>T uc010krz.1 + 12 2480 c.2460C>T c.(2458-2460)ttC>ttT p.F820F HEATR2_uc003siz.2_Silent_p.F688F|HEATR2_uc003sjb.2_Silent_p.F200F|HEATR2_uc003sjc.2_Silent_p.F245F NM_017802 NP_060272 Q86Y56 HEAT2_HUMAN Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA. 820 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) GCGGGCTGTTCCCAGATCTCC 0.552000 106 72 0 0 0.000781405 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33958864 33958864 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:33958864C>T uc001bxj.4 + 6 1689 c.1522C>T c.(1522-1524)Cgt>Tgt p.R508C ZSCAN20_uc009vui.3_Missense_Mutation_p.R507C NM_145238 NP_660281 P17040 ZSC20_HUMAN Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA. 508 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GGAAAAGCTTCGTACCTGTCA 0.562000 28 30 0 0 0.00178596 0 0 KCNH1 3756 broad.mit.edu 37 1 211192539 211192539 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:211192539G>A uc001hib.2 - 5 788 c.618C>T c.(616-618)ccC>ccT p.P206P KCNH1_uc001hic.2_Silent_p.P206P NM_172362 NP_758872 O95259 KCNH1_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA. 206 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TGATGTGAGGGGGAGTCTTTG 0.438000 49 69 0 0 0.000781405 0 0 KIAA1324 57535 broad.mit.edu 37 1 109743496 109743497 + Missense_Mutation DNP GG TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:109743496_109743497GG>TT uc021orb.1 + 20 3168_3169 c.2947_2948GG>TT c.(2947-2949)ggg>TTg p.G983L KIAA1324_uc009wex.2_Missense_Mutation_p.G933L|KIAA1324_uc010ovg.2_Missense_Mutation_p.G881L|KIAA1324_uc009wey.3_Missense_Mutation_p.G896L|KIAA1324_uc001dwr.3_Missense_Mutation_p.G633L NM_020775 NP_065826 Q6UXG2 K1324_HUMAN Homo sapiens KIAA1324 (KIAA1324), mRNA. 983 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) GTCACTCTTTGGGAAGATCAAA 0.545000 OREG0013630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 730 13 0 0 6.4e-05 0 0 VGLL3 389136 broad.mit.edu 37 3 87018183 87018183 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:87018183C>T uc003dqn.3 - 2 858 c.494G>A c.(493-495)gGa>gAa p.G165E NM_016206 NP_057290 A8MV65 VGLL3_HUMAN Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA. 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) AGGATGAACTCCCCCCAAACA 0.577000 122 27 0 0 0.00106085 0 0 EYA2 2139 broad.mit.edu 37 20 45618738 45618739 + Nonsense_Mutation DNP GG AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:45618738_45618739GG>AA uc002xsm.3 + 1 463_464 c.89_90GG>AA c.(88-90)tgg>tAA p.W30* EYA2_uc010ghp.3_Nonsense_Mutation_p.W30*|EYA2_uc021wep.1_Non-coding_Transcript|EYA2_uc002xsq.3_Nonsense_Mutation_p.W30* NM_005244 NP_005235 O00167 EYA2_HUMAN Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA. 30 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) GCTGCTGTGTGGACTCTGAGTG 0.495000 39 16 0 0 6.4e-05 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125192188 125192188 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:125192188C>T uc010flu.3 + 4 1021 c.657C>T c.(655-657)ttC>ttT p.F219F CNTNAP5_uc002tno.3_Silent_p.F219F NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 219 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GGGTCCTGTTCCATGGAGAAG 0.502000 17 20 0 0 0.00121646 0 0 POTED 317754 broad.mit.edu 37 GL000213.1 139003 139003 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrGL000213.1:139003C>T uc011mfl.1 - 0 333 c.285G>A c.(283-285)agG>agA p.R95R NM_174981 NP_778146 Q86YR6 POTED_HUMAN Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA. 95 plasma membrane central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 33 CCATCTTGCTCCTGAGCATCT 0.602000 28 12 0 0 0.00188189 0 0 RNF152 220441 broad.mit.edu 37 18 59483414 59483414 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:59483414G>A uc002lih.1 - 1 695 c.283C>T c.(283-285)Ccc>Tcc p.P95S RNF152_uc021ula.1_Missense_Mutation_p.P95S NM_173557 NP_775828 Q8N8N0 RN152_HUMAN Homo sapiens ring finger protein 152 (RNF152), mRNA. 95 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) CCATTGCTGGGAAGTTTGATG 0.647000 53 13 0 0 0.00185496 0 0 SV2A 9900 broad.mit.edu 37 1 149885275 149885275 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:149885275C>T uc001etg.3 - 1 609 c.118G>A c.(118-120)Gaa>Aaa p.E40K SV2A_uc001eth.2_Missense_Mutation_p.E40K NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA. 40 Interaction with SYT1 (By similarity). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.D39D(2) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CGGGAATATTCGTCCTGGACT 0.537000 119 19 0 0 0.000958276 0 0 PLCB2 5330 broad.mit.edu 37 15 40589053 40589053 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:40589053G>A uc001zld.3 - 13 1681 c.1380C>T c.(1378-1380)atC>atT p.I460I PLCB2_uc010bbo.3_Silent_p.I460I|PLCB2_uc010ucm.2_Silent_p.I460I NM_004573 NP_004564 Q00722 PLCB2_HUMAN Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA. 460 PI-PLC X-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) TCTTGTTCTTGATGAGGATCT 0.582000 23 30 0 0 0.0024448 0 0 PSG5 5673 broad.mit.edu 37 19 43679400 43679400 + Missense_Mutation SNP C T T rs138033994 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:43679400C>T uc002ovu.3 - 3 1062 c.931G>A c.(931-933)Gaa>Aaa p.E311K PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.E311K NM_002781 NP_002772 Q15238 PSG5_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA. 311 Ig-like C2-type 2. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) TTGGAGCTTTCCTTGCCAGTA 0.463000 150 171 0 0 0.000781405 0 0 RNF220 55182 broad.mit.edu 37 1 44878091 44878091 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:44878091C>T uc001clv.1 + 1 682 c.322C>T c.(322-324)Cca>Tca p.P108S RNF220_uc001clw.1_Missense_Mutation_p.P108S NM_018150 NP_060620 Q5VTB9 RN220_HUMAN Homo sapiens ring finger protein 220 (RNF220), mRNA. 108 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 AGATTGCACCCCAATCAGTAT 0.567000 119 45 0 0 0.0025221 0 0 ANO5 203859 broad.mit.edu 37 11 22276938 22276938 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:22276938G>A uc001mqi.2 + 12 1519 c.1202G>A c.(1201-1203)tGg>tAg p.W401* ANO5_uc001mqj.2_Nonsense_Mutation_p.W400* NM_213599 NP_998764 Q75V66 ANO5_HUMAN Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA. 401 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TTGGAGTTTTGGAAACAACGA 0.338000 33 25 0 0 0.000720815 0 0 MAB21L3 126868 broad.mit.edu 37 1 116675916 116675916 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:116675916C>T uc001egc.1 + 6 1284 c.1019C>T c.(1018-1020)cCg>cTg p.P340L NM_152367 NP_689580 Q8N8X9 MB213_HUMAN Homo sapiens mab-21-like 3 (C. elegans) (MAB21L3), mRNA. 340 breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1) 19 TGCACCAACCCGACTGAACTG 0.587000 113 17 0 0 0.00229938 0 0 KIAA1244 57221 broad.mit.edu 37 6 138619790 138619790 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:138619790C>T uc003qhu.3 + 21 3867 c.3696C>T c.(3694-3696)ttC>ttT p.F1232F NM_020340 NP_065073 Q5TH69 BIG3_HUMAN Homo sapiens KIAA1244 (KIAA1244), mRNA. 1232 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity p.A1231V(1) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CTGTTTCCTTCATCCATGACA 0.478000 12 7 0 0 0.000157383 0 0 CSMD1 64478 broad.mit.edu 37 8 3076893 3076893 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:3076893C>T uc022aqr.1 - 28 4946 c.4556G>A c.(4555-4557)gGg>gAg p.G1519E CSMD1_uc011kwj.2_Missense_Mutation_p.G912E|CSMD1_uc003wqe.3_Missense_Mutation_p.G676E NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1520 CUB 9. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTGGTAACTCCCAATGAGGGG 0.478000 7 15 0 0 0.000566183 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138962 126138962 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:126138962G>A uc001uhe.1 + 8 2951 c.2943G>A c.(2941-2943)agG>agA p.R981R TMEM132B_uc001uhf.1_Silent_p.R493R NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 981 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TCGAGGAGAGGAACTTCCTTC 0.438000 20 11 0 0 0.000673444 0 0 CELA2B 51032 broad.mit.edu 37 1 15808762 15808762 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:15808762C>T uc001awl.3 + 3 255 c.230C>T c.(229-231)tCc>tTc p.S77F NM_015849 NP_056933 P08218 CEL2B_HUMAN Homo sapiens chymotrypsin-like elastase family, member 2B (CELA2B), mRNA. 77 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 TCTCCCAGCTCCTCCGGGATC 0.577000 54 23 0 0 0.000586117 0 0 SYT17 51760 broad.mit.edu 37 16 19236082 19236082 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:19236082A>G uc002dfw.3 + 6 1481 c.1150A>G c.(1150-1152)Att>Gtt p.I384V SYT17_uc002dfx.3_Missense_Mutation_p.I323V|SYT17_uc002dfy.3_Missense_Mutation_p.I380V NM_016524 NP_057608 Q9BSW7 SYT17_HUMAN Homo sapiens synaptotagmin XVII (SYT17), mRNA. 384 C2 2. membrane|synaptic vesicle transporter activity NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 17 AAGGGGCACAATTGATCCTTT 0.433000 60 28 0 0 0.00127121 0 0 RIPK4 54101 broad.mit.edu 37 21 43164098 43164098 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:43164098G>A uc002yzn.1 - 6 1187 c.1139C>T c.(1138-1140)gCc>gTc p.A380V NM_020639 NP_065690 Q96T11 Q96T11_HUMAN Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA. 380 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GGAAGAGAAGGCGGAGTCCAC 0.647000 41 20 0 0 0.00121646 0 0 NEURL 9148 broad.mit.edu 37 10 105330650 105330650 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:105330650C>T uc001kxh.3 + 1 517 c.107C>T c.(106-108)cCc>cTc p.P36L NEURL_uc021pxn.1_Missense_Mutation_p.P19L NM_004210 NP_004201 O76050 NEU1A_HUMAN Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA. 36 nervous system development perinuclear region of cytoplasm zinc ion binding p.P36T(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) GGCCCCTTCCCCGTCACTTCT 0.652000 56 44 0 0 0.000781405 0 0 BRWD1 54014 broad.mit.edu 37 21 40571405 40571405 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:40571405A>G uc002yxk.2 - 39 5232 c.4937T>C c.(4936-4938)gTa>gCa p.V1646A BRWD1_uc010goc.1_Missense_Mutation_p.V289A|BRWD1_uc021wjf.1_Missense_Mutation_p.V1646A NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA. 1646 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) ATTCTCTTCTACATCACTCAT 0.408000 OREG0003861 type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 71 20 0 0 0.00121646 0 0 CR1 1378 broad.mit.edu 37 1 207741198 207741198 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:207741198C>T uc001hfy.3 + 16 2772 c.2632C>T c.(2632-2634)Cct>Tct p.P878S CR1_uc009xcl.1_Missense_Mutation_p.P428S|CR1_uc001hfx.3_Missense_Mutation_p.P1328S|CR1_uc021pij.1_Missense_Mutation_p.P878S|CR1_uc009xck.1_Missense_Mutation_p.P428S NM_000573 NP_000564 P17927 CR1_HUMAN Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA. 878 Sushi 14. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.S878G(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TCCAGTTATTCCTAATGGGAG 0.443000 104 47 0 0 0.000781405 0 0 C12orf63 374467 broad.mit.edu 37 12 97137855 97137855 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:97137855C>T uc021rcc.1 + 21 2968 c.2890C>T c.(2890-2892)Cca>Tca p.P964S Q6ZTY8 CL063_HUMAN RecName: Full=Putative uncharacterized protein C12orf63; 964 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 ATATGCAAATCCATTACAGCC 0.299000 18 12 0 0 0.000978159 0 0 KCNG2 26251 broad.mit.edu 37 18 77624240 77624240 + Silent SNP C T T rs140218057 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:77624240C>T uc010xfl.2 + 0 573 c.573C>T c.(571-573)gcC>gcT p.A191A NM_012283 NP_036415 Q9UJ96 KCNG2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA. 191 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CCGTCACGGCCGTGGGCCTCT 0.771000 43 9 0 0 0.000978159 0 0 SALL3 27164 broad.mit.edu 37 18 76754633 76754633 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:76754633C>T uc002lmt.3 + 1 2642 c.2642C>T c.(2641-2643)tCg>tTg p.S881L SALL3_uc010dra.3_Missense_Mutation_p.S488L NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA. 881 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) GACTCCTCGTCGGCCGTGGGC 0.692000 29 41 0 0 0.0025221 0 0 LONP2 83752 broad.mit.edu 37 16 48337130 48337130 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:48337130C>T uc002efi.1 + 10 1798 c.1709C>T c.(1708-1710)gCc>gTc p.A570V MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Missense_Mutation_p.A526V NM_031490 NP_113678 Q86WA8 LONP2_HUMAN Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA. 570 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 AAACTTGGGGCCATTTGCCGA 0.438000 54 24 0 0 0.000720815 0 0 TRIM58 25893 broad.mit.edu 37 1 248039361 248039361 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:248039361G>A uc001ido.3 + 5 1079 c.1031G>A c.(1030-1032)gGg>gAg p.G344E OR2W3_uc001idp.1_Intron NM_015431 NP_056246 Q8NG06 TRI58_HUMAN Homo sapiens tripartite motif containing 58 (TRIM58), mRNA. 344 B30.2/SPRY. intracellular zinc ion binding p.S343L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TTCTCATCAGGGAGGCATTAC 0.562000 57 14 0 0 0.00185496 0 0 PTPN3 5774 broad.mit.edu 37 9 112151520 112151520 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:112151520C>T uc004bed.2 - 21 2358 c.2246G>A c.(2245-2247)cGa>cAa p.R749Q PTPN3_uc004beb.2_Missense_Mutation_p.R618Q|PTPN3_uc004bec.2_Missense_Mutation_p.R573Q|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.R704Q|PTPN3_uc011lwh.1_Missense_Mutation_p.R595Q|PTPN3_uc011lwd.1_Missense_Mutation_p.R217Q|PTPN3_uc011lwe.1_Missense_Mutation_p.R462Q|PTPN3_uc011lwf.1_Missense_Mutation_p.R417Q NM_002829 NP_001138843 P26045 PTN3_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA. 749 Tyrosine-protein phosphatase. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 TACCCGCCCTCGTTCTGTGAG 0.512000 30 13 0 0 0.00244969 0 0 ZNF512B 57473 broad.mit.edu 37 20 62599259 62599259 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:62599259G>A uc002yhl.1 - 1 99 c.45C>T c.(43-45)tcC>tcT p.S15S NM_020713 NP_065764 Q96KM6 Z512B_HUMAN Homo sapiens zinc finger protein 512B (ZNF512B), mRNA. 15 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S15T(1) 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) CACTCTTGCTGGACCCCGGGA 0.597000 45 47 0 0 0.000781405 0 0 FAM75C1 441452 broad.mit.edu 37 9 90534241 90534241 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:90534241G>A uc010mqi.3 + 1 290 c.261G>A c.(259-261)agG>agA p.R87R FAM75C1_uc004apq.4_Silent_p.R70R NM_001145124 NP_001138596 Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA. CCAGAGGCAGGATGAAAAACC 0.542000 126 20 0 0 0.000878237 0 0 XDH 7498 broad.mit.edu 37 2 31573079 31573079 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:31573079C>T uc002rnv.1 - 24 2721 c.2642G>A c.(2641-2643)cGa>cAa p.R881Q NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 881 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity p.R881Q(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GAATAAAGCTCGTTCCATAAT 0.498000 70 23 0 0 0.00278032 0 0 POTEF 728378 broad.mit.edu 37 2 130872850 130872850 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:130872850G>A uc010fmh.2 - 3 973 c.573C>T c.(571-573)ctC>ctT p.L191L NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA. 191 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 TGTCCAGCAGGAGTTTTACTA 0.433000 40 31 0 0 0.000781405 0 0 MRPL45 84311 broad.mit.edu 37 17 36478092 36478092 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:36478092C>T uc002hpy.3 + 6 905 c.744C>T c.(742-744)ttC>ttT p.F248F NM_032351 NP_115727 Q9BRJ2 RM45_HUMAN Homo sapiens mitochondrial ribosomal protein L45 (MRPL45), nuclear gene encoding mitochondrial protein, mRNA. 248 intracellular protein transport|translation mitochondrial inner membrane presequence translocase complex|ribosome P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 13 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) ATGTTGTATTCGAAAAGCAGT 0.502000 90 30 0 0 0.001512 0 0 C6 729 broad.mit.edu 37 5 41153961 41153961 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:41153961C>T uc003jmk.2 - 14 2451 c.2241G>A c.(2239-2241)caG>caA p.Q747Q C6_uc003jml.1_Silent_p.Q747Q NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 747 C5b-binding domain.|Sushi 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) AGGAATTCCCCTGGCATGTGT 0.473000 14 4 0 0 0.00116845 0 0 STEAP4 79689 broad.mit.edu 37 7 87910343 87910343 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:87910343C>T uc022agz.1 - 4 1259 c.1036G>A c.(1036-1038)Gat>Aat p.D346N STEAP4_uc003ujs.3_Missense_Mutation_p.D346N|STEAP4_uc010lek.3_Missense_Mutation_p.D170N NM_001205315 NP_001192244 Q687X5 STEA4_HUMAN Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA. 346 Ferric oxidoreductase. fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) ACATATGAATCACTGAGCCAG 0.378000 32 10 0 0 0.000442599 0 0 KCNJ6 3763 broad.mit.edu 37 21 38997754 38997754 + Missense_Mutation SNP T G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:38997754T>G uc011aej.1 - 3 1032 c.979A>C c.(979-981)Acc>Ccc p.T327P KCNJ6_uc002ywo.2_Missense_Mutation_p.T327P NM_002240 NP_002231 P48051 IRK6_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA. 327 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) ATCTCACTGGTGATGTAGGAG 0.517000 42 10 0 0 0.000673444 0 0 SLC12A3 6559 broad.mit.edu 37 16 56906280 56906280 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:56906280C>T uc002ekd.4 + 6 899 c.870C>T c.(868-870)ttC>ttT p.F290F SLC12A3_uc010ccm.3_Silent_p.F290F|SLC12A3_uc010ccn.3_Silent_p.F289F NM_000339 NP_000330 P55017 S12A3_HUMAN Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA. 290 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) TGCTGTTCTTCCTTGTCATCA 0.552000 43 8 0 0 0.000274275 0 0 SCNN1B 6338 broad.mit.edu 37 16 23366796 23366796 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:23366796G>A uc002dln.3 + 3 938 c.762G>A c.(760-762)gaG>gaA p.E254E NM_000336 NP_000327 P51168 SCNNB_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA. 254 excretion|sensory perception of taste apical plasma membrane WW domain binding|ligand-gated sodium channel activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) TCGGAGCTGAGCCCTGCAACT 0.627000 27 12 0 0 0.00185496 0 0 CCDC147 159686 broad.mit.edu 37 10 106163596 106163596 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:106163596G>A uc001kyh.3 + 13 2283 c.2149G>A c.(2149-2151)Gag>Aag p.E717K NM_001008723 NP_001008723 Q5T655 CC147_HUMAN Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA. 717 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) GAGGAAGCTCGAGGTAACATC 0.507000 4 3 0 0 6.4e-05 0 0 ABCC3 8714 broad.mit.edu 37 17 48746588 48746588 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:48746588G>A uc002isl.3 + 15 2105 c.2025G>A c.(2023-2025)ctG>ctA p.L675L NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 675 ABC transporter 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CTGCCCTGCTGGGAGAGATGG 0.652000 22 24 0 0 0.00047179 0 0 CCDC170 80129 broad.mit.edu 37 6 151869468 151869468 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:151869468C>T uc003qol.3 + 4 707 c.618C>T c.(616-618)ttC>ttT p.F206F NM_025059 NP_079335 Q8IYT3 CF097_HUMAN Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA. 206 AAAATGAATTCGTGAAAGGAC 0.368000 22 8 0 0 0.000274275 0 0 SP140 11262 broad.mit.edu 37 2 231152662 231152662 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:231152662G>A uc002vql.3 + 17 1816 c.1701G>A c.(1699-1701)caG>caA p.Q567Q SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Silent_p.Q453Q|SP140_uc002vqm.3_Silent_p.Q507Q|SP140_uc010fxl.3_Silent_p.Q540Q NM_007237 NP_009168 Q13342 LY10_HUMAN Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA. 567 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GAGCTGCACAGAAAAGAGTCC 0.393000 23 6 0 0 0.000157383 0 0 CYP4F3 4051 broad.mit.edu 37 19 15769554 15769554 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:15769554C>T uc010xok.2 + 11 1382 c.1332C>T c.(1330-1332)cgC>cgT p.R444R CYP4F3_uc010xol.2_Silent_p.R444R|CYP4F3_uc002nbj.3_Silent_p.R444R|CYP4F3_uc010xom.2_Silent_p.R295R|CYP4F3_uc002nbk.3_Silent_p.R444R|CYP4F3_uc010xon.2_Silent_p.R154R NM_001199208 NP_001186137 Q08477 CP4F3_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA. 444 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 ACCCCTTTCGCTTTGACCCAA 0.592000 93 36 0 0 0.00111076 0 0 ZNF202 7753 broad.mit.edu 37 11 123597480 123597480 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:123597480G>A uc001pzd.1 - 8 1572 c.1172C>T c.(1171-1173)cCc>cTc p.P391L ZNF202_uc001pzc.1_Missense_Mutation_p.P167L|ZNF202_uc001pze.1_Missense_Mutation_p.P391L|ZNF202_uc001pzf.1_Missense_Mutation_p.P391L NM_003455 NP_003446 O95125 ZN202_HUMAN Homo sapiens zinc finger protein 202 (ZNF202), mRNA. 391 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) CCCTAACAGGGGGTGGACGGG 0.448000 20 28 0 0 0.000720815 0 0 DNAH17 8632 broad.mit.edu 37 17 76471856 76471856 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:76471856C>T uc010dhp.2 - 52 8339 c.8214G>A c.(8212-8214)ggG>ggA p.G2738G DNAH17_uc002jvs.3_5'Flank NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GATCGCCAATCCCTTGAGCAA 0.438000 40 26 0 0 0.001512 0 0 THEMIS 387357 broad.mit.edu 37 6 128134744 128134744 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:128134744C>T uc011ebt.2 - 3 1191 c.1042G>A c.(1042-1044)Gag>Aag p.E348K THEMIS_uc010kfa.3_Missense_Mutation_p.E251K|THEMIS_uc021zfa.1_Missense_Mutation_p.E348K|THEMIS_uc010kfb.3_Missense_Mutation_p.E313K NM_001164685 NP_001158157 Q8N1K5 THMS1_HUMAN Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA. 348 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 GTTGGGAACTCCCTCGGTCGC 0.478000 22 17 0 0 0.00074312 0 0 SYNE1 23345 broad.mit.edu 37 6 152553250 152553250 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:152553250C>T uc021zhb.1 - 111 21085 c.20862_splice c.e111+1 p.K6954_splice SYNE1_uc003qos.4_Splice_Site_p.K1478_splice|SYNE1_uc003qot.4_Splice_Site_p.K6883_splice|SYNE1_uc003qou.4_Splice_Site_p.K6954_splice NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 6954 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATTTTAATTACCTTATATTTC 0.249000 HNSCC(10;0.0054) 25 8 0 0 0.000673444 0 0 DPP10 57628 broad.mit.edu 37 2 116485423 116485423 + Missense_Mutation SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:116485423A>C uc002tle.3 + 7 641 c.620A>C c.(619-621)cAa>cCa p.Q207P DPP10_uc002tla.2_Missense_Mutation_p.Q203P|DPP10_uc002tlb.2_Missense_Mutation_p.Q153P|DPP10_uc002tlc.2_Missense_Mutation_p.Q199P|DPP10_uc002tlf.2_Missense_Mutation_p.Q196P NM_001178034 NP_001171505 Q8N608 DPP10_HUMAN Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA. 203 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 ATCTACTATCAACCTGATATA 0.308000 15 12 0 0 0.000978159 0 0 CEACAM6 4680 broad.mit.edu 37 19 42259569 42259569 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:42259569C>T uc002orm.2 + 0 172 c.23C>T c.(22-24)cCc>cTc p.P8L NM_002483 NP_002474 P40199 CEAM6_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA. 8 cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) TCAGCCCCTCCCTGCAGATTG 0.607000 61 22 0 0 0.00047179 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841430 8841430 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:8841430C>T uc010xkg.2 + 0 40 c.40C>T c.(40-42)Ctg>Ttg p.L14L NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA. 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 AGACTTCATTCTGGTGGGCCT 0.512000 39 6 0 0 0.00116845 0 0 TCRA 0 broad.mit.edu 37 14 22636363 22636363 + Missense_Mutation SNP G T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:22636363G>T uc001wdi.2 + 0 71 c.39G>T c.(37-39)ttG>ttT p.L13F TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|TCRA_uc021rpu.1_5'Flank Homo sapiens mRNA for T cell receptor alpha variable 30, partial cds, clone: SEB 222. GCACCTTGTTGTGGCAGTTGA 0.473000 122 48 3.85841e-42 1.41726e-41 0.000781405 1 0 MYO18B 84700 broad.mit.edu 37 22 26422532 26422532 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:26422532C>T uc003abz.1 + 42 6842 c.6592C>T c.(6592-6594)Cgc>Tgc p.R2198C MYO18B_uc003aca.1_Missense_Mutation_p.R2079C|MYO18B_uc010guy.1_Missense_Mutation_p.R2080C|MYO18B_uc010guz.1_Missense_Mutation_p.R2078C|MYO18B_uc011aka.1_Missense_Mutation_p.R1352C|MYO18B_uc011akb.1_Missense_Mutation_p.R1711C|MYO18B_uc010gva.1_Missense_Mutation_p.R181C|MYO18B_uc010gvb.1_Non-coding_Transcript NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 2198 nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CCACTTTGTCCGCCGGCAAAA 0.567000 135 17 0 0 0.000958276 0 0 NPTX1 4884 broad.mit.edu 37 17 78445638 78445638 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:78445638C>T uc002jyp.1 - 3 1129 c.971G>A c.(970-972)gGg>gAg p.G324E NM_002522 NP_002513 Q15818 NPTX1_HUMAN Homo sapiens neuronal pentraxin I (NPTX1), mRNA. 324 Pentaxin. central nervous system development|synaptic transmission|transport transport vesicle metal ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1) 11 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487) CTCCCAGACCCCGTCCCGGGT 0.627000 40 7 0 0 0.00198382 0 0 NDST4 64579 broad.mit.edu 37 4 115767138 115767138 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:115767138G>A uc003ibu.3 - 9 2635 c.1956C>T c.(1954-1956)ttC>ttT p.F652F NDST4_uc010imw.3_Non-coding_Transcript NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 652 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) ATGGTGTAGGGAAAAAGTCCA 0.358000 16 27 0 0 0.00106085 0 0 DLG2 1740 broad.mit.edu 37 11 83344302 83344302 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:83344302G>A uc001paj.2 - 13 1880 c.1577C>T c.(1576-1578)tCc>tTc p.S526F DLG2_uc001pai.2_Missense_Mutation_p.S423F|DLG2_uc010rsy.1_Missense_Mutation_p.S493F|DLG2_uc021qof.1_Missense_Mutation_p.S565F|DLG2_uc010rsz.1_Missense_Mutation_p.S526F|DLG2_uc010rta.1_Missense_Mutation_p.S526F|DLG2_uc001pak.2_Missense_Mutation_p.S631F|DLG2_uc010rtb.1_Missense_Mutation_p.S493F|DLG2_uc001pal.1_Missense_Mutation_p.S526F|DLG2_uc010rsx.1_Missense_Mutation_p.S7F|DLG2_uc010rsw.1_Missense_Mutation_p.S8F NM_001364 NP_001355 Q15700 DLG2_HUMAN Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA. 526 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TCCGGACCCGGAGCTCATGCT 0.473000 13 7 0 0 0.000442599 0 0 MLLT4 4301 broad.mit.edu 37 6 168352394 168352394 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:168352394C>T uc021zik.1 + 28 4535 c.4216C>T c.(4216-4218)Cag>Tag p.Q1406* MLLT4_uc003qwb.1_Nonsense_Mutation_p.Q1431*|MLLT4_uc003qwc.2_Nonsense_Mutation_p.Q1447*|MLLT4_uc021zij.1_Nonsense_Mutation_p.Q1430*|MLLT4_uc021zim.1_Nonsense_Mutation_p.Q993*|MLLT4_uc003qwg.1_Nonsense_Mutation_p.Q756* NM_001040000 NP_001035089 P55196 AFAD_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA. 1447 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) GATGCGCACTCAGTCCTTAAA 0.577000 T MLL AL 40 37 0 0 0.00222228 0 0 DNAJB13 374407 broad.mit.edu 37 11 73676029 73676029 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:73676029C>T uc001ouo.3 + 3 1192 c.441C>T c.(439-441)tcC>tcT p.S147S NM_153614 NP_705842 P59910 DJB13_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA. 147 apoptosis|protein folding|spermatogenesis heat shock protein binding|unfolded protein binding large_intestine(3)|lung(2) 5 Breast(11;7.42e-05) TCTACCTGTCCCTGGAGGACT 0.537000 OREG0021218 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 12 0 0 0.000978159 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3139599 3139599 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:3139599C>T uc002ctv.1 - 4 1759 c.1671G>A c.(1669-1671)ggG>ggA p.G557G ZSCAN10_uc002cty.1_Silent_p.G218G|ZSCAN10_uc002ctw.1_Silent_p.G475G|ZSCAN10_uc002ctx.1_Silent_p.G485G NM_032805 NP_116194 Q96SZ4 ZSC10_HUMAN Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA. 557 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 CGAAACTCTTCCCGCACTGGG 0.711000 9 6 0 0 0.00116845 0 0 DNAH5 1767 broad.mit.edu 37 5 13920608 13920608 + Missense_Mutation SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:13920608C>A uc003jfd.2 - 5 821 c.779G>T c.(778-780)tGg>tTg p.W260L DNAH5_uc003jfe.1_Non-coding_Transcript NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 260 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTGTTTGATCCATACTTTCAT 0.398000 Kartagener syndrome 94 27 7.07758e-08 2.58015e-07 0.000720815 1 0 PDE1C 5137 broad.mit.edu 37 7 31918629 31918629 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:31918629C>T uc003tcm.2 - 3 866 c.405G>A c.(403-405)caG>caA p.Q135Q PDE1C_uc003tcn.1_Silent_p.Q135Q|PDE1C_uc003tco.2_Silent_p.Q195Q|PDE1C_uc003tcr.3_Silent_p.Q135Q|PDE1C_uc003tcs.3_Silent_p.Q135Q NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 135 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) ATATCCCAGCCTGCACTGCGT 0.507000 77 11 0 0 0.00244969 0 0 SEZ6L 23544 broad.mit.edu 37 22 26693009 26693009 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:26693009G>A uc003acb.3 + 3 1321 c.1125G>A c.(1123-1125)caG>caA p.Q375Q SEZ6L_uc003acd.3_Silent_p.Q375Q|SEZ6L_uc011akd.2_Silent_p.Q375Q|SEZ6L_uc003ace.3_Silent_p.Q375Q|SEZ6L_uc011akc.2_Silent_p.Q375Q|SEZ6L_uc003acc.3_Silent_p.Q375Q|SEZ6L_uc003acf.1_Silent_p.Q148Q|SEZ6L_uc010gvc.1_Silent_p.Q148Q NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 375 CUB 1. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 GGACCTTCCAGGACGACGGCC 0.592000 51 9 0 0 0.000673444 0 0 ARMC4 55130 broad.mit.edu 37 10 28151526 28151526 + Missense_Mutation SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:28151526A>T uc009xky.3 - 17 2734 c.2636T>A c.(2635-2637)tTt>tAt p.F879Y ARMC4_uc010qds.2_Missense_Mutation_p.F404Y|ARMC4_uc010qdt.2_Missense_Mutation_p.F571Y|ARMC4_uc001itz.3_Missense_Mutation_p.F879Y NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 879 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 ACCACCAACAAAGGAACGAAC 0.348000 10 9 0 0 0.000442599 0 0 SOGA3 387104 broad.mit.edu 37 6 127837547 127837547 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:127837547C>T uc003qbd.3 - 1 1078 c.213G>A c.(211-213)cgG>cgA p.R71R NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA. 71 integral to membrane gctgctgctgcCGAACAGAAT 0.672000 14 18 0 0 0.00152264 0 0 TDRD6 221400 broad.mit.edu 37 6 46657589 46657589 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:46657589C>T uc003oyj.3 + 0 1978 c.1724C>T c.(1723-1725)tCg>tTg p.S575L TDRD6_uc010jze.3_Missense_Mutation_p.S575L NM_001010870 NP_001010870 O60522 TDRD6_HUMAN Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA. 575 Tudor 3. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) CGAGGCAATTCGGAAAATGTG 0.443000 59 29 0 0 0.001512 0 0 CEP112 201134 broad.mit.edu 37 17 64171218 64171218 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:64171218C>T uc002jfl.3 - 3 633 c.414G>A c.(412-414)tgG>tgA p.W138* CEP112_uc002jfm.3_Nonsense_Mutation_p.W138*|CEP112_uc010dep.2_Nonsense_Mutation_p.W138* NM_145036 NP_659473 Q8N8E3 CE112_HUMAN Homo sapiens centrosomal protein 112kDa (CEP112), transcript variant 1, mRNA. 138 centrosome NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 28 AAGAGAGTTTCCATGATTCAT 0.418000 102 22 0 0 0.000586117 0 0 CYP2C8 1558 broad.mit.edu 37 10 96824695 96824695 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:96824695G>A uc001kkb.3 - 3 599 c.504C>T c.(502-504)ttC>ttT p.F168F CYP2C8_uc010qoa.2_Silent_p.F98F|CYP2C8_uc010qoc.2_Silent_p.F66F|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Silent_p.F82F|CYP2C8_uc021pwl.1_Silent_p.F98F|CYP2C8_uc010qod.1_Silent_p.F82F NM_000770 NP_000761 P10632 CP2C8_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA. 168 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) AGCCCAGGATGAAAGTGGGAT 0.313000 33 12 0 0 0.00185496 0 0 WARS 7453 broad.mit.edu 37 14 100820169 100820169 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:100820169G>A uc001yhh.1 - 5 961 c.580C>T c.(580-582)Cag>Tag p.Q194* WARS_uc001yhi.1_Nonsense_Mutation_p.Q153*|WARS_uc001yhg.2_Nonsense_Mutation_p.Q194*|WARS_uc001yhl.1_Nonsense_Mutation_p.Q194*|WARS_uc001yhk.1_Nonsense_Mutation_p.Q153* NM_004184 NP_998811 P23381 SYWC_HUMAN Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA. 194 angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|protein binding|tryptophan-tRNA ligase activity breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) TCCGTCATCTGGATGACCAAG 0.537000 69 28 0 0 0.00178596 0 0 ANKK1 255239 broad.mit.edu 37 11 113270750 113270750 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:113270750G>A uc001pny.3 + 7 2153 c.2059G>A c.(2059-2061)Gcc>Acc p.A687T NM_178510 NP_848605 Q8NFD2 ANKK1_HUMAN Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA. 687 ATP binding|protein serine/threonine kinase activity p.A687A(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) AAATGTCCACGCCCGCAACAA 0.632000 14 17 0 0 0.000958276 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453565 84453565 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:84453565G>A uc001vlk.3 - 0 2964 c.2078C>T c.(2077-2079)tCg>tTg p.S693L NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA. 693 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GTCTGAGAGCGAGTGAGAGCC 0.587000 22 11 0 0 0.000978159 0 0 DSG2 1829 broad.mit.edu 37 18 29116202 29116202 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:29116202C>T uc002kwu.4 + 10 1649 c.1461C>T c.(1459-1461)atC>atT p.I487I NM_001943 NP_001934 Q14126 DSG2_HUMAN Homo sapiens desmoglein 2 (DSG2), mRNA. 487 Cadherin 4. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) CAGTCCTTATCAATGTTGAAG 0.403000 47 36 0 0 0.00222228 0 0 PHKA2 5256 broad.mit.edu 37 X 18942232 18942232 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:18942232G>A uc004cyv.4 - 16 2165 c.1735C>T c.(1735-1737)Cat>Tat p.H579Y PHKA2_uc010nfg.1_Non-coding_Transcript NM_000292 NP_000283 P46019 KPB2_HUMAN Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA. 579 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) ACAGCAGAATGAATGTCTGAG 0.358000 55 44 0 0 0.000680045 0 0 HMG20B 10362 broad.mit.edu 37 19 3574509 3574509 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:3574509C>T uc002lya.3 + 3 344 c.276C>T c.(274-276)caC>caT p.H92H HMG20B_uc010dtm.1_3'UTR|HMG20B_uc002lyb.3_5'UTR|HMG20B_uc010xhn.1_Silent_p.H92H NM_006339 NP_006330 Q9P0W2 HM20B_HUMAN Homo sapiens high mobility group 20B (HMG20B), mRNA. 92 blood coagulation|cell cycle|chromatin modification chromosome|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity cervix(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) GCACGCGCCACCCGGATCTGC 0.667000 5 7 0 0 0.000442599 0 0 NEK5 341676 broad.mit.edu 37 13 52676396 52676396 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:52676396C>T uc001vge.3 - 9 782 c.642G>A c.(640-642)ctG>ctA p.L214L NM_199289 NP_954983 Q6P3R8 NEK5_HUMAN Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA. 214 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) GACAAATCTTCAGAACCAGCT 0.403000 69 47 0 0 0.000781405 0 0 GRIN2B 2904 broad.mit.edu 37 12 14019004 14019004 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:14019004C>T uc001rbt.2 - 1 318 c.139G>A c.(139-141)Gag>Aag p.E47K NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 47 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding p.E47K(2)|p.D46N(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATGGCCACCTCGTCGGAAGTG 0.587000 53 9 0 0 0.000274275 0 0 TUB 7275 broad.mit.edu 37 11 8118838 8118838 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:8118838C>T uc001mga.3 + 6 900 c.751C>T c.(751-753)Ctt>Ttt p.L251F TUB_uc010rbk.2_Missense_Mutation_p.L257F|TUB_uc001mfy.3_Missense_Mutation_p.L306F NM_177972 NP_813977 P50607 TUB_HUMAN Homo sapiens tubby homolog (mouse) (TUB), transcript variant 2, mRNA. 251 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) GGTCCAGGATCTTGAGGAGTT 0.597000 30 22 0 0 0.00188189 0 0 PCNT 5116 broad.mit.edu 37 21 47831639 47831640 + Missense_Mutation DNP GG AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:47831639_47831640GG>AA uc002zji.4 + 27 5759_5760 c.5652_5653GG>AA c.(5650-5655)aaggcg>aaAAcg p.A1885T PCNT_uc002zjj.3_Missense_Mutation_p.A1767T NM_006031 NP_006022 O95613 PCNT_HUMAN Homo sapiens pericentrin (PCNT), mRNA. 1885 G2/M transition of mitotic cell cycle|cilium assembly cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) ACCAGCGGAAGGCGGCCCACTC 0.663000 40 10 0 0 6.4e-05 0 0 ITGA1 3672 broad.mit.edu 37 5 52161619 52161619 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:52161619G>A uc003jou.3 + 5 1006 c.592G>A c.(592-594)Gaa>Aaa p.E198K ITGA1_uc003jov.3_Non-coding_Transcript NM_181501 NP_852478 P56199 ITA1_HUMAN Homo sapiens integrin, alpha 1 (ITGA1), mRNA. 198 VWFA. E -> K (in Ref. 3). axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) TGACCTTCTTGAAAGAATGGA 0.358000 21 36 0 0 0.00058488 0 0 SULT1A1 6817 broad.mit.edu 37 16 28619845 28619845 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:28619845G>A uc002dqn.3 - 5 1093 c.501C>T c.(499-501)ttC>ttT p.F167F NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Silent_p.F76F|SULT1A1_uc002dqi.3_Silent_p.F76F|SULT1A1_uc002dqk.3_Silent_p.F76F|SULT1A1_uc002dql.3_Silent_p.F76F|SULT1A1_uc002dqm.3_Intron|SULT1A1_uc002dqp.3_Silent_p.F76F NM_177534 NP_803878 P50225 ST1A1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA. 76 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2) 16 GCACCCGCATGAAGATGGGAG 0.592000 13 31 0 0 0.00283554 0 0 PWWP2B 170394 broad.mit.edu 37 10 134218946 134218946 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:134218946C>T uc001lll.4 + 1 971 c.942C>T c.(940-942)ccC>ccT p.P314P PWWP2B_uc009ybe.3_Silent_p.P314P NM_138499 NP_612508 Q6NUJ5 PWP2B_HUMAN Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA. 314 central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) CCTCCATCCCCAAGTTGAAAC 0.731000 33 6 0 0 0.00198382 0 0 ITGA1 3672 broad.mit.edu 37 5 52240865 52240865 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:52240865G>A uc003jou.3 + 27 3792 c.3378_splice c.e27+1 p.E1126_splice ITGA1_uc003jov.3_Splice_Site|ITGA1_uc003jow.3_Splice_Site_p.E657_splice NM_181501 NP_852478 P56199 ITA1_HUMAN Homo sapiens integrin, alpha 1 (ITGA1), mRNA. 1126 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) AAAAAAGAGAGGTAAGTGCAA 0.338000 118 47 0 0 0.000781405 0 0 PLA2G3 50487 broad.mit.edu 37 22 31531921 31531921 + Splice_Site SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:31531921A>C uc003aka.3 - 7 1446 c.1317_splice c.e7-1 p.N439_splice NM_015715 NP_056530 Q9NZ20 PA2G3_HUMAN Homo sapiens phospholipase A2, group III (PLA2G3), mRNA. 439 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 TCTCTGGAACAGCTGTAAGGA 0.602000 75 9 0 0 0.000442599 0 0 PAPPA 5069 broad.mit.edu 37 9 118950233 118950233 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:118950233C>T uc004bjn.3 + 1 1597 c.1216C>T c.(1216-1218)Cgc>Tgc p.R406C PAPPA_uc011lxp.1_Missense_Mutation_p.R199C|PAPPA_uc011lxq.2_Missense_Mutation_p.R199C NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 406 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CTCCTCCCTTCGCCGCCGCCT 0.612000 51 32 0 0 0.000953801 0 0 TRBV7-6 28592 broad.mit.edu 37 7 142139395 142139395 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:142139395G>A uc003vyt.3 - 1 275 c.230C>T c.(229-231)tCa>tTa p.S77L TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_Intron SubName: Full=V_segment translation product; Flags: Fragment; GGGCAGCCCTGATTTGTCTTG 0.552000 38 69 0 0 0.000781405 0 0 DOK6 220164 broad.mit.edu 37 18 67344984 67344984 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:67344984G>A uc002lkl.3 + 3 501 c.304G>A c.(304-306)Gag>Aag p.E102K NM_152721 NP_689934 Q6PKX4 DOK6_HUMAN Homo sapiens docking protein 6 (DOK6), mRNA. 102 PH. insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) GGAGGCCGAGGAGTGGTGCAA 0.532000 119 21 0 0 0.00152264 0 0 AGAP11 119385 broad.mit.edu 37 10 88769434 88769434 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:88769434C>T uc001kee.2 + 11 2629 c.1425C>T c.(1423-1425)tcC>tcT p.S475S AGAP11_uc001kef.3_Intron NM_133447 NP_597704 Q8TF27 AGA11_HUMAN Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA. 475 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding CACATGGCTCCCGTGAGGAGG 0.672000 64 38 0 0 0.00195071 0 0 CUX2 23316 broad.mit.edu 37 12 111748223 111748223 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:111748223C>T uc001tsa.2 + 14 1791 c.1637C>T c.(1636-1638)cCc>cTc p.P546L NM_015267 NP_056082 O14529 CUX2_HUMAN Homo sapiens cut-like homeobox 2 (CUX2), mRNA. 546 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GCGGCGGGGCCCGGGGCAGAG 0.711000 15 6 0 0 0.000157383 0 0 SULF2 55959 broad.mit.edu 37 20 46313184 46313184 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:46313184G>A uc002xto.3 - 5 1209 c.879C>T c.(877-879)tcC>tcT p.S293S SULF2_uc002xtr.3_Silent_p.S293S|SULF2_uc002xtq.3_Silent_p.S293S NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA. 293 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway Golgi stack|cell surface|endoplasmic reticulum|extracellular space arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 CCGTCTCCATGGAGTCGTCCA 0.637000 8 22 0 0 0.000878237 0 0 MET 4233 broad.mit.edu 37 7 116339428 116339428 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:116339428C>T uc003vij.3 + 1 477 c.290C>T c.(289-291)cCa>cTa p.P97L MET_uc022akk.1_Missense_Mutation_p.P97L|MET_uc010lkh.3_Missense_Mutation_p.P97L|MET_uc011knc.1_Missense_Mutation_p.P97L|MET_uc011knd.2_Missense_Mutation_p.P97L|MET_uc011knf.2_Missense_Mutation_p.P97L|MET_uc011kne.2_Missense_Mutation_p.P97L|MET_uc011kng.1_Missense_Mutation_p.P97L|MET_uc011knh.1_Missense_Mutation_p.P97L|MET_uc011kni.2_Missense_Mutation_p.P97L|MET_uc003vii.1_Missense_Mutation_p.P116L|MET_uc010lkg.3_Missense_Mutation_p.P97L|MET_uc011kmz.1_Missense_Mutation_p.P97L|MET_uc011kna.1_Missense_Mutation_p.P97L|MET_uc011knb.1_Missense_Mutation_p.P97L NM_000245 NP_000236 P08581 MET_HUMAN Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA. 97 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) GATTGTTTCCCATGTCAGGAC 0.443000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 49 12 0 0 0.000978159 0 0 KAT6B 23522 broad.mit.edu 37 10 76784832 76784832 + Silent SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:76784832A>C uc001jwn.1 + 16 3982 c.3489A>C c.(3487-3489)tcA>tcC p.S1163S KAT6B_uc001jwo.1_Silent_p.S871S|KAT6B_uc001jwp.1_Silent_p.S980S NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA. 1163 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding TTGACAACTCAGATGAAGAGA 0.493000 24 16 0 0 0.000566183 0 0 KIAA1522 57648 broad.mit.edu 37 1 33236042 33236042 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:33236042C>T uc001bvu.1 + 5 1306 c.1262C>T c.(1261-1263)tCc>tTc p.S421F KIAA1522_uc010ohm.1_Missense_Mutation_p.S373F|KIAA1522_uc001bvv.2_Missense_Mutation_p.S362F|KIAA1522_uc010ohn.1_Intron NM_020888 NP_065939 Q9P206 K1522_HUMAN Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA. 362 Ser-rich. breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CACTCTCAATCCTCCGACACC 0.647000 16 12 0 0 0.00185496 0 0 OR2L1P 26247 broad.mit.edu 37 1 248154433 248154433 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:248154433C>T uc001idv.1 + 0 865 c.621C>T c.(619-621)atC>atT p.I207I OR2L13_uc001ids.3_Intron Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA. lung(11) 11 ACCCCATCATCTACAGCCTGA 0.473000 47 16 0 0 0.00188189 0 0 NBPF10 100132406 broad.mit.edu 37 1 145281368 145281368 + Splice_Site SNP G T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:145281368G>T uc021ouk.1 + 4 669 c.-529_splice c.e4-1 NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emn.4_Splice_Site_p.G100_splice|NOTCH2NL_uc001emm.4_Splice_Site_p.G100_splice|NOTCH2NL_uc001emo.2_Splice_Site_p.G100_splice|NBPF10_uc010oyh.1_Splice_Site NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CCTTCCTTTAGGTAAGGAGTG 0.507000 893 18 0.00121646 0.00439994 0.00121646 1 0 KCNIP4 80333 broad.mit.edu 37 4 20884328 20884328 + Silent SNP G A A rs147165653 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:20884328G>A uc021xmt.1 - 1 186 c.66C>T c.(64-66)ttC>ttT p.F22F KCNIP4_uc003gqe.2_Intron|KCNIP4_uc003gqf.1_Intron|KCNIP4_uc003gqg.1_Intron|KCNIP4_uc003gqh.1_Intron|KCNIP4_uc003gqi.1_Intron|KCNIP4_uc021xmu.1_Intron|KCNIP4_uc021xms.1_5'UTR NM_025221 NP_671711 Q6PIL6 KCIP4_HUMAN Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA. 22 KIS (By similarity). plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity p.L21F(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) GAGCGTACAGGAAACCTAGAA 0.507000 23 7 0 0 0.00198382 0 0 RTN4RL1 146760 broad.mit.edu 37 17 1840728 1840728 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:1840728G>A uc002ftp.3 - 1 407 c.388C>T c.(388-390)Ctc>Ttc p.L130F NM_178568 NP_848663 Q86UN2 R4RL1_HUMAN Homo sapiens reticulon 4 receptor-like 1 (RTN4RL1), mRNA. 130 axon regeneration anchored to plasma membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1) 11 TAGAGGTAGAGGGCGTGAAGC 0.652000 32 18 0 0 0.000958276 0 0 KIAA0101 9768 broad.mit.edu 37 15 64669029 64669029 + Missense_Mutation SNP A T T rs11554309 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:64669029A>T uc002ank.3 - 2 335 c.203T>A c.(202-204)tTc>tAc p.F68Y KIAA0101_uc002anl.3_Intron NM_014736 NP_055551 Q15004 PAF_HUMAN Homo sapiens KIAA0101 (KIAA0101), transcript variant 1, mRNA. 68 mitochondrion|nucleus central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1) 3 CAACCTAAAGAATTCTCCAAT 0.403000 32 7 0 0 0.000274275 0 0 ARID5B 84159 broad.mit.edu 37 10 63759869 63759869 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:63759869G>A uc001jlt.2 + 3 978 c.522G>A c.(520-522)acG>acA p.T174T ARID5B_uc010qil.2_Silent_p.T174T NM_032199 NP_115575 Q14865 ARI5B_HUMAN Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA. 174 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) AGGAAGAAACGAACGTGATAG 0.468000 8 15 0 0 0.000308642 0 0 SCN10A 6336 broad.mit.edu 37 3 38753783 38753784 + Missense_Mutation DNP GG AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:38753783_38753784GG>AA uc003ciq.3 - 21 3957_3958 c.3957_3958CC>TT c.(3955-3960)tccctt>tcTTtt p.L1320F NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1320 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) AAAGGTACAAGGGAAAACTCTC 0.446000 100 29 0 0 6.4e-05 0 0 POU4F2 5458 broad.mit.edu 37 4 147561842 147561842 + Missense_Mutation SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:147561842C>A uc003ikv.3 + 1 1360 c.1112C>A c.(1111-1113)tCc>tAc p.S371Y NM_004575 NP_004566 Q12837 PO4F2_HUMAN Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA. 371 MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) CCTCGGCCCTCCTCTGAAAAG 0.562000 59 30 2.80507e-11 1.02406e-10 0.0024448 1 0 NME8 51314 broad.mit.edu 37 7 37916489 37916489 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:37916489G>A uc003tfn.3 + 11 1246 c.874G>A c.(874-876)Gat>Aat p.D292N NM_016616 NP_057700 Q8N427 TXND3_HUMAN Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA. 292 CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity p.D292N(1) CATTGAAGAGGATGCAGCTAA 0.323000 56 10 0 0 0.000673444 0 0 MEIS3 56917 broad.mit.edu 37 19 47920552 47920552 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:47920552C>T uc002pgq.3 - 1 377 c.311G>A c.(310-312)aGc>aAc p.S104N MEIS3_uc002pgp.3_5'Flank|MEIS3_uc002pgr.3_5'UTR|MEIS3_uc002pgs.3_Missense_Mutation_p.S23N|MEIS3_uc002pgt.3_Missense_Mutation_p.S23N|MEIS3_uc010eld.3_Missense_Mutation_p.S23N|MEIS3_uc002pgw.3_Missense_Mutation_p.A136T NM_001009813 NP_001009813 Q99687 MEIS3_HUMAN Homo sapiens Meis homeobox 3 (MEIS3), transcript variant 2, mRNA. 23 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2) 20 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223) CTCTGGGAAGCTAGCCAGGGC 0.687000 75 15 0 0 0.000566183 0 0 SYT6 148281 broad.mit.edu 37 1 114641753 114641753 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:114641753G>A uc021osa.1 - 4 1405 c.1327C>T c.(1327-1329)Caa>Taa p.Q443* SYT6_uc021orz.1_Nonsense_Mutation_p.Q358*|SYT6_uc001eev.3_Nonsense_Mutation_p.Q358*|SYT6_uc001eeu.3_Nonsense_Mutation_p.Q3* NM_001253772 NP_001240701 Q5T7P8 SYT6_HUMAN Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA. 443 C2 2. acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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) AGGCTGACTTGATCCATGTTT 0.493000 194 38 0 0 0.000680045 0 0 RNF17 56163 broad.mit.edu 37 13 25356014 25356014 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:25356014G>A uc001upr.3 + 5 584 c.543G>A c.(541-543)gaG>gaA p.E181E RNF17_uc010tdd.1_Silent_p.E40E|RNF17_uc010tde.2_Silent_p.E181E|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Silent_p.E120E|RNF17_uc001upq.1_Silent_p.E181E NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 181 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding p.E181K(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) AAACGATAGAGGAAAGAGAAA 0.308000 12 10 0 0 0.00185496 0 0 SEC61A2 55176 broad.mit.edu 37 10 12200044 12200045 + Missense_Mutation DNP CC AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:12200044_12200045CC>AA uc001ile.2 + 8 1062_1063 c.915_916CC>AA c.(913-918)tcccag>tcAAag p.Q306K SEC61A2_uc010qbq.1_Missense_Mutation_p.Q284K|SEC61A2_uc001ilf.4_Non-coding_Transcript|SEC61A2_uc001ilh.4_Non-coding_Transcript|SEC61A2_uc001ilg.4_Missense_Mutation_p.Q306K NM_018144 NP_060614 Q9H9S3 S61A2_HUMAN Homo sapiens Sec61 alpha 2 subunit (S. cerevisiae) (SEC61A2), transcript variant 1, mRNA. 306 endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Renal(717;0.228) ATGTTATTTCCCAGATGCTGTC 0.416000 306 8 0 0 6.4e-05 0 0 BRDT 676 broad.mit.edu 37 1 92441903 92441903 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:92441903G>A uc001dol.4 + 5 944 c.526G>A c.(526-528)Gaa>Aaa p.E176K BRDT_uc010osz.2_Missense_Mutation_p.E180K|BRDT_uc001dok.4_Missense_Mutation_p.E176K|BRDT_uc009wdf.3_Missense_Mutation_p.E103K|BRDT_uc010otb.2_Missense_Mutation_p.E130K|BRDT_uc010ota.2_Missense_Mutation_p.E130K|BRDT_uc001dom.4_Missense_Mutation_p.E176K NM_001242805 NP_001229734 Q58F21 BRDT_HUMAN Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA. 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity p.E176*(2) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) TAAGCAGCAAGAAATTCCTTC 0.413000 41 21 0 0 0.00188189 0 0 PTPRH 5794 broad.mit.edu 37 19 55708578 55708578 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:55708578C>T uc002qjq.3 - 8 1970 c.1897G>A c.(1897-1899)Gag>Aag p.E633K PTPRH_uc010esv.3_Missense_Mutation_p.E455K|PTPRH_uc002qjs.2_Missense_Mutation_p.E640K NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA. 633 Fibronectin type-III 7. 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) TCCAGGGCCTCCACTTTGTAC 0.587000 63 19 0 0 0.000958276 0 0 NOD2 64127 broad.mit.edu 37 16 50756591 50756591 + Missense_Mutation SNP G A A rs75934273 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:50756591G>A uc002egm.1 + 7 2878 c.2773G>A c.(2773-2775)Gat>Aat p.D925N NOD2_uc010cbl.1_Missense_Mutation_p.D675N|NOD2_uc010cbm.1_Missense_Mutation_p.D675N|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_Non-coding_Transcript|NOD2_uc010cbq.1_Missense_Mutation_p.D63N|NOD2_uc010cbr.1_Non-coding_Transcript|NOD2_uc010vgq.1_5'UTR NM_022162 NP_071445 Q9HC29 NOD2_HUMAN Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA. 925 JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding p.G924V(1) cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) AGCCTTGGGTGATCACCAGAG 0.552000 192 81 0 0 0.000781405 0 0 TMEM156 80008 broad.mit.edu 37 4 39000348 39000348 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:39000348G>A uc003gto.3 - 1 378 c.270C>T c.(268-270)atC>atT p.I90I TMEM156_uc010ifj.3_Silent_p.I90I NM_024943 NP_079219 Q8N614 TM156_HUMAN Homo sapiens transmembrane protein 156 (TMEM156), mRNA. 90 integral to membrane endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 ATTCACCTGTGATGTCTTGGC 0.373000 12 6 0 0 0.00198382 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70594480 70594480 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 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 14 0 0 0.000566183 0 0 PTPRH 5794 broad.mit.edu 37 19 55698954 55698954 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:55698954G>A uc002qjq.3 - 13 2566 c.2493C>T c.(2491-2493)ggC>ggT p.G831G PTPRH_uc010esv.3_Silent_p.G653G|BC034929_uc002qjr.3_5'Flank NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA. 831 Tyrosine-protein phosphatase. G -> D (in dbSNP:rs36092369). 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) ACTGGCTGTGGCCCACCAGGG 0.587000 57 18 0 0 0.00152264 0 0 C1QTNF1 114897 broad.mit.edu 37 17 77042686 77042686 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:77042686C>T uc002jwt.3 + 1 581 c.499C>T c.(499-501)Cct>Tct p.P167S C1QTNF1_uc002jwp.3_Missense_Mutation_p.P69S|C1QTNF1_uc002jwq.3_5'UTR|C1QTNF1_uc002jwr.4_Missense_Mutation_p.P79S|C1QTNF1_uc002jws.3_Missense_Mutation_p.P69S NM_198594 NP_940996 Q9BXJ1 C1QT1_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 1 (C1QTNF1), mRNA. 69 C1q. collagen breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2) 14 BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201) CCAGGGGCTCCCTGCTTCCCG 0.557000 OREG0024791 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 92 40 0 0 0.00148497 0 0 PRAMEF6 440561 broad.mit.edu 37 1 13001374 13001374 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:13001374C>T uc001auq.2 - 2 395 c.309G>A c.(307-309)ctG>ctA p.L103L PRAMEF6_uc001aur.2_Intron NM_001010889 NP_001010889 Q5VXH4 PRAM6_HUMAN Homo sapiens PRAME family member 6 (PRAMEF6), mRNA. 103 NS(1)|kidney(1)|lung(5)|urinary_tract(2) 9 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) 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) CCTGTAAATCCAGCACTTGAA 0.478000 241 45 0 0 0.000781405 0 0 STON2 85439 broad.mit.edu 37 14 81862503 81862503 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:81862503G>A uc010tvu.2 - 1 306 c.108C>T c.(106-108)ctC>ctT p.L36L STON2_uc001xvk.1_Silent_p.L36L|STON2_uc010atc.1_Silent_p.L36L NM_033104 NP_149095 Q8WXE9 STON2_HUMAN Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA. 36 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) ACAGTCCTGGGAGGTGCTCTT 0.572000 34 13 0 0 0.000308642 0 0 DHX36 170506 broad.mit.edu 37 3 154007607 154007607 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:154007607G>A uc003ezy.4 - 15 1904 c.1823C>T c.(1822-1824)cCt>cTt p.P608L DHX36_uc010hvq.3_Missense_Mutation_p.P594L|DHX36_uc003ezz.4_Missense_Mutation_p.P608L NM_020865 NP_065916 Q9H2U1 DHX36_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA. 608 Helicase C-terminal. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GCAATGACCAGGTTGAACTCT 0.353000 29 12 0 0 0.00244969 0 0 PSG7 5676 broad.mit.edu 37 19 43439693 43439693 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:43439693C>T uc002ovl.4 - 2 393 c.291_splice c.e2+1 p.G97_splice PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron NM_002783 NP_002774 Q13046 PSG7_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA. 97 Ig-like V-type. female pregnancy extracellular region Prostate(69;0.00682) TACTGTTTCTCATCCACTGTA 0.418000 188 146 0 0 0.000781405 0 0 SLC9A3 6550 broad.mit.edu 37 5 484715 484715 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:484715G>A uc003jbe.2 - 4 964 c.852C>T c.(850-852)atC>atT p.I284I SLC9A3_uc011clx.1_Silent_p.I284I NM_004174 NP_004165 P48764 SL9A3_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA. 284 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CGGGCTCGATGATACGCACAT 0.622000 28 7 0 0 0.000157383 0 0 EPHA7 2045 broad.mit.edu 37 6 93967895 93967895 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:93967895C>T uc003poe.3 - 10 2273 c.2032G>A c.(2032-2034)Gac>Aac p.D678N EPHA7_uc003pof.3_Missense_Mutation_p.D673N|EPHA7_uc011eac.2_Missense_Mutation_p.D674N NM_004440 NP_004431 Q15375 EPHA7_HUMAN Homo sapiens EPH receptor A7 (EPHA7), mRNA. 678 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CACAAAAAGTCTCTCCTTTGT 0.428000 18 9 0 0 0.000442599 0 0 TECTA 7007 broad.mit.edu 37 11 120998562 120998562 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:120998562C>T uc010rzo.2 + 7 1876 c.1876C>T c.(1876-1878)Ccg>Tcg p.P626S NM_005422 NP_005413 O75443 TECTA_HUMAN Homo sapiens tectorin alpha (TECTA), mRNA. 626 TIL 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CTGCGCCACGCCGTGCACAGA 0.652000 19 22 0 0 0.00152264 0 0 FLG2 388698 broad.mit.edu 37 1 152329818 152329818 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:152329818C>T uc001ezw.4 - 2 517 c.444G>A c.(442-444)agG>agA p.R148R AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 148 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCACAGTTCCCCTTGAGTGCC 0.468000 224 41 0 0 0.0025221 0 0 PREP 5550 broad.mit.edu 37 6 105736770 105736770 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:105736770C>T uc003prc.3 - 11 1551 c.1318_splice c.e11-1 p.I440_splice NM_002726 NP_002717 P48147 PPCE_HUMAN Homo sapiens prolyl endopeptidase (PREP), mRNA. 440 I -> L (in Ref. 2; BAA04661). proteolysis serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) GGTAGAAAATCTAGAATATAA 0.338000 20 18 0 0 0.00152264 0 0 SHANK1 50944 broad.mit.edu 37 19 51165595 51165595 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:51165595G>A uc002psx.1 - 22 6132 c.6113C>T c.(6112-6114)tCc>tTc p.S2038F SHANK1_uc002psw.1_Missense_Mutation_p.S1422F NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA. 2038 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) TCCAGTTGGGGAGCCACGGAT 0.701000 15 5 0 0 0.00198382 0 0 NTNG1 22854 broad.mit.edu 37 1 108023381 108023382 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:108023381_108023382CC>TT uc001dvh.4 + 7 2257_2258 c.1539_1540CC>TT c.(1537-1542)ggccag>ggTTag p.Q514* NTNG1_uc001dvc.4_Nonsense_Mutation_p.Q413*|NTNG1_uc010out.2_Nonsense_Mutation_p.Q480*|NTNG1_uc001dvf.4_Nonsense_Mutation_p.Q455*|NTNG1_uc001dvi.3_Missense_Mutation_p.A81V|NTNG1_uc001dve.3_Non-coding_Transcript|NTNG1_uc009wek.3_Non-coding_Transcript|NTNG1_uc001dvg.3_Non-coding_Transcript|NTNG1_uc009wem.3_Missense_Mutation_p.P76L NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA. 514 axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) CCGACTCTGGCCAGGGCGCGCC 0.708000 23 15 0 0 6.4e-05 0 0 MECP2 4204 broad.mit.edu 37 X 153296706 153296707 + Missense_Mutation DNP GG AA AA rs61749710 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:153296706_153296707GG>AA uc004fjv.2 - 3 798_799 c.572_573CC>TT c.(571-573)ccc>cTT p.P191L MECP2_uc004fjw.2_Missense_Mutation_p.P203L NM_004992 NP_004983 P51608 MECP2_HUMAN Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 1, mRNA. 191 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein N-terminus binding|protein domain specific binding|transcription corepressor activity breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGCTCCCTTTGGGGCGTCCCCG 0.614000 2 86 0 0 6.4e-05 0 0 PHACTR3 116154 broad.mit.edu 37 20 58349480 58349480 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:58349480C>T uc002yau.3 + 6 1576 c.1109C>T c.(1108-1110)tCt>tTt p.S370F PHACTR3_uc002yat.3_Missense_Mutation_p.S367F|PHACTR3_uc010zzw.2_Missense_Mutation_p.S329F|PHACTR3_uc002yav.3_Missense_Mutation_p.S329F|PHACTR3_uc002yaw.3_Missense_Mutation_p.S329F|PHACTR3_uc002yax.3_Missense_Mutation_p.S259F NM_080672 NP_899067 Q96KR7 PHAR3_HUMAN Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA. 370 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) ATCATAAATTCTGAACTCAAA 0.493000 115 43 0 0 0.00285205 0 0 CACNA2D3 55799 broad.mit.edu 37 3 55052318 55052318 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:55052318G>A uc003dhf.3 + 34 3009 c.2961G>A c.(2959-2961)ggG>ggA p.G987G CACNA2D3_uc003dhg.1_Silent_p.G893G|CACNA2D3_uc003dhh.1_Non-coding_Transcript NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA. 987 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity p.G987>?(2) NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) AGACTACAGGGAATATTGCTT 0.507000 10 11 0 0 0.00185496 0 0 C3orf64 285203 broad.mit.edu 37 3 69028912 69028912 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:69028912C>T uc003dnl.3 - 15 1646 c.1241G>A c.(1240-1242)aGg>aAg p.R414K C3orf64_uc003dnj.3_Missense_Mutation_p.R93K|C3orf64_uc003dnk.3_Missense_Mutation_p.R330K|C3orf64_uc011bfw.2_Non-coding_Transcript NM_173654 NP_775925 Q5NDL2 AER61_HUMAN Homo sapiens chromosome 3 open reading frame 64 (C3orf64), mRNA. 414 extracellular region transferase activity, transferring glycosyl groups p.D413N(1) NS(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 12 Lung NSC(201;0.126) BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216) GTGTGTGATCCTTAGTTGATC 0.403000 16 25 0 0 0.000586117 0 0 ABCA8 10351 broad.mit.edu 37 17 66937028 66937028 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:66937028A>G uc002jhq.3 - 3 512 c.172T>C c.(172-174)Tca>Cca p.S58P ABCA8_uc002jhp.3_Missense_Mutation_p.S58P|ABCA8_uc010wqq.2_Missense_Mutation_p.S58P|ABCA8_uc010wqr.2_5'UTR|ABCA8_uc002jhr.3_Missense_Mutation_p.S58P|ABCA8_uc002jhs.3_Missense_Mutation_p.S58P|ABCA8_uc002jht.3_Missense_Mutation_p.S58P NM_007168 NP_009099 O94911 ABCA8_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA. 58 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) GTAAGCAGTGAAGAAAAATCA 0.353000 40 5 0 0 0.000602214 0 0 NDUFA9 4704 broad.mit.edu 37 12 4768259 4768259 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:4768259C>T uc001qnc.3 + 4 497 c.468C>T c.(466-468)tcC>tcT p.S156S NDUFA9_uc009zei.2_Silent_p.S156S|NDUFA9_uc010ses.2_5'UTR NM_005002 NP_004993 Q16795 NDUA9_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa (NDUFA9), nuclear gene encoding mitochondrial protein, mRNA. 156 mitochondrial electron transport, NADH to ubiquinone|sodium ion transport mitochondrial matrix|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 NADH(DB00157) CTCAACTGTCCAAGGAAGCTG 0.328000 24 21 0 0 0.00229938 0 0 BTNL3 10917 broad.mit.edu 37 5 180432702 180432702 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:180432702C>T uc003mmr.3 + 7 1415 c.1231C>T c.(1231-1233)Ctg>Ttg p.L411L BTNL3_uc010jlp.3_Silent_p.L196L NM_197975 NP_932079 Q6UXE8 BTNL3_HUMAN Homo sapiens butyrophilin-like 3 (BTNL3), mRNA. 411 B30.2/SPRY. lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) AGGGGTCTTCCTGGACTATGA 0.478000 27 13 0 0 0.00244969 0 0 ACTG2 72 broad.mit.edu 37 2 74129555 74129555 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:74129555C>T uc002sjw.3 + 2 317 c.195C>T c.(193-195)atC>atT p.I65I ACTG2_uc010fex.1_Silent_p.I65I|ACTG2_uc010yrn.2_Intron|ACTG2_uc010fey.3_Silent_p.I65I NM_001615 NP_001606 P63267 ACTH_HUMAN Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA. 65 muscle contraction cytoskeleton|cytosol ATP binding large_intestine(3)|lung(14)|skin(1) 18 AGCGAGGGATCCTAACTCTCA 0.468000 46 9 0 0 0.000274275 0 0 OPRK1 4986 broad.mit.edu 37 8 54163366 54163366 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:54163366A>G uc003xrh.1 - 0 607 c.232T>C c.(232-234)Tcg>Ccg p.S78P OPRK1_uc022aup.1_5'UTR|OPRK1_uc003xri.1_Missense_Mutation_p.S78P|OPRK1_uc010lyc.1_5'UTR NM_000912 NP_000903 P41145 OPRK_HUMAN Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA. 78 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding p.S78T(2) NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) ATGACCAGCGAGTTGCCCACC 0.692000 21 4 0 0 0.00024832 0 0 ATP12A 479 broad.mit.edu 37 13 25280559 25280559 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:25280559C>T uc010aaa.3 + 14 2478 c.2145C>T c.(2143-2145)tcC>tcT p.S715S ATP12A_uc001upp.3_Silent_p.S709S NM_001185085 NP_001172014 P54707 AT12A_HUMAN Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA. 709 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CCCGGACATCCCCCCAGCAGA 0.572000 0 21 0 0 0.00047179 0 0 EPG5 57724 broad.mit.edu 37 18 43524016 43524016 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:43524016G>A uc002lbm.3 - 7 1847 c.1747C>T c.(1747-1749)Ccc>Tcc p.P583S EPG5_uc002lbo.1_Missense_Mutation_p.P583S NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA. 583 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 TCATGAAAGGGGAACTGTGCT 0.388000 89 12 0 0 0.00244969 0 0 CYP2C9 1559 broad.mit.edu 37 10 96698566 96698566 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:96698566C>T uc001kka.4 + 0 152 c.127C>T c.(127-129)Cta>Tta p.L43L CYP2C9_uc009xut.3_Silent_p.L43L|CYP2C9_uc001kjz.3_Silent_p.L43L NM_000771 NP_000762 P11712 CP2C9_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA. 43 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TGGAAATATCCTACAGATAGG 0.433000 30 18 0 0 0.00152264 0 0 GPRC6A 222545 broad.mit.edu 37 6 117150200 117150200 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:117150200C>T uc003pxj.1 - 1 1 c.-21_splice c.e1-1 GPRC6A_uc003pxk.1_Splice_Site|GPRC6A_uc003pxl.1_Splice_Site NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA. response to amino acid stimulus G-protein coupled receptor activity 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) TTGCTCAGTTCATGTGAGTTC 0.403000 1 3 0 0 6.4e-05 0 0 CSNK1D 1453 broad.mit.edu 37 17 80210338 80210338 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:80210338G>A uc002kej.3 - 4 1045 c.708C>T c.(706-708)ccC>ccT p.P236P CSNK1D_uc002kei.3_Silent_p.P236P|CSNK1D_uc010wvj.2_Silent_p.P33P|CSNK1D_uc010dil.3_5'Flank|CSNK1D_uc002keh.3_Silent_p.P101P|CSNK1D_uc010dim.1_Silent_p.P33P NM_001893 NP_001884 P48730 KC1D_HUMAN Homo sapiens casein kinase 1, delta (CSNK1D), transcript variant 1, mRNA. 236 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|circadian regulation of gene expression|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm centrosome|cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|large_intestine(2)|lung(7) 11 Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155) ACACTTCGATGGGGGTGGACA 0.537000 203 67 0 0 0.000781405 0 0 PDE6C 5146 broad.mit.edu 37 10 95422929 95422929 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:95422929G>A uc001kiu.4 + 20 2650 c.2512G>A c.(2512-2514)Gaa>Aaa p.E838K NM_006204 NP_006195 P51160 PDE6C_HUMAN Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA. 838 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding p.E838K(2)|p.A837A(1) breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) AGGAGGAGCCGAAAAAGGTTA 0.428000 10 9 0 0 0.000442599 0 0 APOF 319 broad.mit.edu 37 12 56755102 56755102 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:56755102G>A uc001sle.1 - 1 942 c.888C>T c.(886-888)ttC>ttT p.F296F NM_001638 NP_001629 Q13790 APOF_HUMAN Homo sapiens apolipoprotein F (APOF), mRNA. 296 cholesterol metabolic process high-density lipoprotein particle|low-density lipoprotein particle cholesterol binding|lipid transporter activity|receptor binding breast(1)|lung(3)|prostate(1)|stomach(1) 6 CTTCTGATATGAAAGAAGCCA 0.473000 51 16 0 0 0.00074312 0 0 ACSM2B 348158 broad.mit.edu 37 16 20554584 20554584 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:20554584C>T uc002dhj.4 - 12 1492 c.1282_splice c.e12-1 p.E428_splice ACSM2B_uc002dhk.4_Splice_Site_p.E428_splice|ACSM2B_uc010bwf.1_Splice_Site_p.E428_splice 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. 428 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 TCGGGATTTTCCTGGTGACCA 0.483000 72 27 0 0 0.00106085 0 0 LIN7A 8825 broad.mit.edu 37 12 81239607 81239607 + Missense_Mutation SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:81239607T>A uc001szj.1 - 3 578 c.385A>T c.(385-387)Aat>Tat p.N129Y LIN7A_uc001szk.1_Non-coding_Transcript NM_004664 NP_004655 O14910 LIN7A_HUMAN Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA. 129 PDZ. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2) 15 ATGGGGGAATTTTGCTCCTTT 0.498000 46 15 0 0 0.000308642 0 0 PRX 57716 broad.mit.edu 37 19 40903778 40903778 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:40903778G>A uc002onr.3 - 6 750 c.481C>T c.(481-483)Ccc>Tcc p.P161S PRX_uc002onq.3_Missense_Mutation_p.P22S|PRX_uc002ons.3_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN Homo sapiens periaxin (PRX), transcript variant 2, mRNA. 161 Arg/Lys-rich (basic). axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGAACTTGGGAAAGGAGAAC 0.667000 13 12 0 0 0.000978159 0 0 MRPS9 64965 broad.mit.edu 37 2 105708940 105708940 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:105708940C>T uc002tcn.4 + 7 801 c.733C>T c.(733-735)Cga>Tga p.R245* NM_182640 NP_872578 P82933 RT09_HUMAN Homo sapiens mitochondrial ribosomal protein S9 (MRPS9), nuclear gene encoding mitochondrial protein, mRNA. 245 DNA damage response, detection of DNA damage|translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome p.R245Q(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 GCAGAGGTTTCGAAGAAGTGT 0.393000 63 12 0 0 0.00136819 0 0 XPNPEP2 7512 broad.mit.edu 37 X 128887159 128887159 + Missense_Mutation SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:128887159T>A uc004eut.1 + 10 1286 c.1042T>A c.(1042-1044)Tcc>Acc p.S348T NM_003399 NP_003390 O43895 XPP2_HUMAN Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA. 348 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 37 AGACACCTACTCCCCAGTGAT 0.582000 52 35 0 0 0.00222228 0 0 MYH10 4628 broad.mit.edu 37 17 8449957 8449957 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:8449957G>A uc002glm.3 - 11 1279 c.1183C>T c.(1183-1185)Ctt>Ttt p.L395F MYH10_uc002gll.3_Missense_Mutation_p.L385F|MYH10_uc010cnx.3_Missense_Mutation_p.L394F NM_005964 NP_005955 P35580 MYH10_HUMAN Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA. 385 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity p.R394R(1) breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TTCATCCCAAGAAGATGGCAG 0.438000 22 20 0 0 0.00188189 0 0 KCNH4 23415 broad.mit.edu 37 17 40321537 40321537 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:40321537G>A uc002hzb.2 - 8 1881 c.1548C>T c.(1546-1548)ttC>ttT p.F516F NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA. 516 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) ACGTGGTCTGGAAGTATTCGA 0.657000 55 19 0 0 0.00278032 0 0 HAPLN4 404037 broad.mit.edu 37 19 19368843 19368843 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:19368843G>A uc002nmb.3 - 4 1102 c.992C>T c.(991-993)cCc>cTc p.P331L HAPLN4_uc002nmc.3_Missense_Mutation_p.P331L NM_023002 NP_075378 Q86UW8 HPLN4_HUMAN Homo sapiens hyaluronan and proteoglycan link protein 4 (HAPLN4), mRNA. 331 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1) 16 Epithelial(12;0.00575) GTTCACGATGGGGTAGCGCGC 0.721000 3 3 0 0 6.4e-05 0 0 SUPT5H 6829 broad.mit.edu 37 19 39957154 39957154 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:39957154C>T uc002olo.4 + 11 1090 c.911C>T c.(910-912)tCc>tTc p.S304F SUPT5H_uc002olp.4_Missense_Mutation_p.S304F|SUPT5H_uc002olq.4_Missense_Mutation_p.S300F|SUPT5H_uc002oln.4_Missense_Mutation_p.S304F|SUPT5H_uc002olr.4_Missense_Mutation_p.S304F|SUPT5H_uc002ols.1_5'Flank NM_001111020 NP_003160 O00267 SPT5H_HUMAN Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA. 304 KOW 1. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) AACACCATCTCCCTGAAGATG 0.617000 46 26 0 0 0.000878237 0 0 WDR19 57728 broad.mit.edu 37 4 39247026 39247026 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:39247026C>T uc003gtv.3 + 23 2837 c.2683C>T c.(2683-2685)Cct>Tct p.P895S WDR19_uc011byi.2_Missense_Mutation_p.P735S|WDR19_uc003gtw.1_Missense_Mutation_p.P492S NM_025132 NP_079408 Q8NEZ3 WDR19_HUMAN Homo sapiens WD repeat domain 19 (WDR19), mRNA. 895 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 CGTTTCTTCTCCTAAGATCCA 0.408000 23 8 0 0 0.000673444 0 0 ERLEC1 27248 broad.mit.edu 37 2 54028624 54028624 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:54028624C>T uc002rxl.3 + 6 896 c.616C>T c.(616-618)Ccc>Tcc p.P206S GPR75-ASB3_uc002rxi.4_Intron|ERLEC1_uc002rxm.3_Missense_Mutation_p.P206S|ERLEC1_uc002rxn.3_Missense_Mutation_p.P206S NM_015701 NP_056516 Q96DZ1 ERLEC_HUMAN Homo sapiens endoplasmic reticulum lectin 1 (ERLEC1), transcript variant 1, mRNA. 206 ER-associated protein catabolic process endoplasmic reticulum lumen glycoprotein binding|protein binding endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1) 18 ACAGAACCGGCCCAGATCAAG 0.368000 50 47 0 0 0.000781405 0 0 OR6C76 390326 broad.mit.edu 37 12 55820232 55820232 + Silent SNP C T T rs139871766 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:55820232C>T uc010spm.2 + 0 195 c.195C>T c.(193-195)tcC>tcT p.S65S NM_001005183 NP_001005183 A6NM76 O6C76_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA. 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GGAATTTCTCCTTGGAAATTT 0.408000 19 39 0 0 0.000953801 0 0 BOD1L2 284257 broad.mit.edu 37 18 54814897 54814897 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:54814897G>A uc002lgm.3 + 0 605 c.354G>A c.(352-354)agG>agA p.R118R Homo sapiens biorientation of chromosomes in cell division 1 pseudogene (BOD1P), non-coding RNA. GAGTGGACAGGATTAGTTCTC 0.483000 47 11 0 0 0.00185496 0 0 PAPSS2 9060 broad.mit.edu 37 10 89474791 89474791 + Missense_Mutation SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:89474791C>A uc001kex.3 + 5 952 c.689C>A c.(688-690)cCg>cAg p.P230Q PAPSS2_uc001kew.3_Missense_Mutation_p.P230Q|PAPSS2_uc009xtg.1_Non-coding_Transcript NM_004670 NP_004661 O95340 PAPS2_HUMAN Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 2 (PAPSS2), transcript variant 1, mRNA. 230 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol ATP binding|adenylylsulfate kinase activity|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 20 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) CTCTTTGTGCCGGAAAACAAA 0.378000 17 12 4.93089e-13 1.80144e-12 0.00244969 1 0 EPB41 2035 broad.mit.edu 37 1 29338416 29338416 + Missense_Mutation SNP C T T rs144897337 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:29338416C>T uc001brm.2 + 4 953 c.826C>T c.(826-828)Cgt>Tgt p.R276C EPB41_uc001brg.2_Missense_Mutation_p.R67C|EPB41_uc001brh.2_Missense_Mutation_p.R67C|EPB41_uc001brj.2_Missense_Mutation_p.R67C|EPB41_uc001bri.2_Missense_Mutation_p.R241C|EPB41_uc009vtk.2_Missense_Mutation_p.R241C|EPB41_uc001brk.3_Missense_Mutation_p.R276C|EPB41_uc001brl.2_Missense_Mutation_p.R276C|EPB41_uc021okg.1_Missense_Mutation_p.R276C|EPB41_uc009vtm.2_5'UTR|EPB41_uc009vtl.2_Missense_Mutation_p.R67C NM_001166005 NP_001159477 P11171 41_HUMAN Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA. 276 FERM. blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding Golgi apparatus|extrinsic to membrane|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) AAAGCAGGTTCGTGGTAAGTG 0.393000 84 50 0 0 0.000781405 0 0 CDK12 51755 broad.mit.edu 37 17 37681082 37681082 + Missense_Mutation SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:37681082C>A uc010cvv.3 + 11 3837 c.3251C>A c.(3250-3252)cCa>cAa p.P1084Q CDK12_uc010wef.1_Missense_Mutation_p.P1083Q|CDK12_uc002hrw.4_Missense_Mutation_p.P1084Q NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA. 1084 RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 AACAGCAGCCCAGCACCACCT 0.527000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 121 6 0.00116845 0.00422777 0.00116845 1 0 MAPKAPK2 9261 broad.mit.edu 37 1 206905044 206905044 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:206905044G>A uc001hem.2 + 7 1162 c.952G>A c.(952-954)Gag>Aag p.E318K MAPKAPK2_uc001hel.2_Missense_Mutation_p.E318K NM_032960 NP_116584 P49137 MAPK2_HUMAN Homo sapiens mitogen-activated protein kinase-activated protein kinase 2 (MAPKAPK2), transcript variant 2, mRNA. 318 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|nerve growth factor receptor signaling pathway|prostanoid metabolic process|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 19 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) GACCATCACCGAGTTTATGAA 0.562000 192 46 0 0 0.000781405 0 0 GPX6 257202 broad.mit.edu 37 6 28483479 28483479 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:28483479G>A uc021yrx.1 - 0 92 c.42C>T c.(40-42)ttC>ttT p.F14F GPX6_uc010jrg.1_Non-coding_Transcript NM_182701 NP_874360 P59796 GPX6_HUMAN Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA. 14 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) AGCCAACCAGGAAAAACAGGA 0.547000 27 11 0 0 0.00185496 0 0 CXorf22 170063 broad.mit.edu 37 X 35971789 35971789 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:35971789G>A uc004ddj.3 + 6 1193 c.1127G>A c.(1126-1128)gGa>gAa p.G376E CXorf22_uc010ngv.3_Non-coding_Transcript NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA. 376 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 GAGTCCGTAGGAAGTAAAGAT 0.323000 1 34 0 0 0.00058488 0 0 ITLN1 55600 broad.mit.edu 37 1 160854650 160854650 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:160854650G>A uc001fxc.3 - 1 134 c.18C>T c.(16-18)ttC>ttT p.F6F NM_017625 NP_060095 Q8WWA0 ITLN1_HUMAN Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA. 6 positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GAAACAGCAGGAAGCTGAGTT 0.507000 199 38 0 0 0.00170553 0 0 CILP 8483 broad.mit.edu 37 15 65490746 65490746 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:65490746G>A uc002aon.2 - 8 2059 c.1878C>T c.(1876-1878)ttC>ttT p.F626F NM_003613 NP_003604 O75339 CILP1_HUMAN Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA. 626 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 GGGGATCCAGGAAGGTCACAC 0.522000 22 54 0 0 0.000781405 0 0 URB2 9816 broad.mit.edu 37 1 229773366 229773366 + Silent SNP G T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:229773366G>T uc001hts.1 + 3 3142 c.3006G>T c.(3004-3006)ggG>ggT p.G1002G URB2_uc009xfd.1_Silent_p.G1002G NM_014777 NP_055592 Q14146 URB2_HUMAN Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA. 1002 nucleolus p.G1002E(1) 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 AAGTGATAGGGACGTTCTTAG 0.428000 40 30 7.38237e-10 2.69319e-09 0.00106085 1 0 BOD1L1 259282 broad.mit.edu 37 4 13606324 13606324 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:13606324G>A uc003gmz.1 - 9 2317 c.2200C>T c.(2200-2202)Cca>Tca p.P734S BOD1L1_uc010idr.1_Missense_Mutation_p.P71S NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA. 734 Lys-rich. DNA binding TCTTCCGATGGAGTTTTCTCT 0.363000 35 21 0 0 0.00121646 0 0 LDB3 11155 broad.mit.edu 37 10 88439220 88439220 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:88439220G>A uc001kdv.3 + 1 213 c.190G>A c.(190-192)Gaa>Aaa p.E64K LDB3_uc010qml.1_Missense_Mutation_p.E64K|LDB3_uc010qmm.2_Missense_Mutation_p.E64K|LDB3_uc009xsz.3_5'UTR|LDB3_uc001kdu.3_Missense_Mutation_p.E64K|LDB3_uc001kdr.3_Missense_Mutation_p.E64K|LDB3_uc001kdt.3_Non-coding_Transcript|LDB3_uc009xsy.3_Missense_Mutation_p.E64K|LDB3_uc001kds.3_Missense_Mutation_p.E64K NM_007078 NP_009009 O75112 LDB3_HUMAN Homo sapiens LIM domain binding 3 (LDB3), transcript variant 1, mRNA. 64 PDZ. cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 GACCCACCTGGAAGCCCAGAA 0.602000 22 28 0 0 0.00106085 0 0 GOLGB1 2804 broad.mit.edu 37 3 121410121 121410122 + Missense_Mutation DNP CC AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:121410121_121410122CC>AA uc010hrc.3 - 13 8215_8216 c.8089_8090GG>TT c.(8089-8091)ggg>TTg p.G2697L GOLGB1_uc003eei.4_Missense_Mutation_p.G2692L|GOLGB1_uc003eej.4_Missense_Mutation_p.G2658L|GOLGB1_uc021xcy.1_Missense_Mutation_p.G2617L NM_004487 NP_004478 Q14789 GOGB1_HUMAN Homo sapiens golgin B1 (GOLGB1), mRNA. 2692 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TCTCATTATCCCTGCATCATGA 0.391000 244 8 0 0 6.4e-05 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112900290 112900290 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:112900290C>T uc004bei.2 + 8 3354 c.3162C>T c.(3160-3162)tcC>tcT p.S1054S PALM2-AKAP2_uc004bej.4_Silent_p.S822S|PALM2-AKAP2_uc004bek.4_Silent_p.S822S|PALM2-AKAP2_uc004bel.1_Silent_p.S632S|PALM2-AKAP2_uc011lwi.2_Silent_p.S680S|PALM2-AKAP2_uc004bem.3_Silent_p.S680S|PALM2-AKAP2_uc010mtw.1_Silent_p.S640S|PALM2-AKAP2_uc011lwj.2_Silent_p.S591S|PALM2-AKAP2_uc004ben.3_Silent_p.S591S NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA. 591 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 AAGCTGTGTCCAAAACCAGCA 0.542000 32 6 0 0 0.00116845 0 0 DNAH11 8701 broad.mit.edu 37 7 21856193 21856193 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:21856193G>A uc003svc.3 + 64 10493 c.10462G>A c.(10462-10464)Gaa>Aaa p.E3488K NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 3488 AAA 5 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AATGTCCACCGAAAATGCCGC 0.493000 Kartagener syndrome 5 15 0 0 0.00244969 0 0 KCNK10 54207 broad.mit.edu 37 14 88652155 88652155 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:88652155G>A uc001xwm.3 - 6 1478 c.1356C>T c.(1354-1356)ttC>ttT p.F452F KCNK10_uc001xwn.3_Silent_p.F452F|KCNK10_uc001xwo.3_Silent_p.F447F NM_138318 NP_612191 P57789 KCNKA_HUMAN Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA. 447 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 AGGTGGACCCGAACTTGTTGA 0.542000 122 31 0 0 0.0024448 0 0 AK309896 0 broad.mit.edu 37 9 66513833 66513833 + RNA SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:66513833G>A uc010mnh.1 - 5 c.915C>T Homo sapiens cDNA FLJ20444 fis, clone KAT05128. TCTTCTACATGATCAACGCAG 0.488000 55 9 0 0 0.000673444 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140221068 140221068 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140221068G>A uc003lhs.2 + 0 162 c.162G>A c.(160-162)ctG>ctA p.L54L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.L54L NM_018911 NP_061734 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA. 67 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTGGGGCTGGAGCTGGCGG 0.637000 73 42 0 0 0.00222228 0 0 DCN 1634 broad.mit.edu 37 12 91572209 91572209 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:91572209G>A uc001tbt.3 - 1 375 c.121C>T c.(121-123)Cct>Tct p.P41S DCN_uc001tbo.3_Missense_Mutation_p.P41S|DCN_uc001tbp.3_Missense_Mutation_p.P41S|DCN_uc001tbq.3_Missense_Mutation_p.P41S|DCN_uc001tbr.3_Missense_Mutation_p.P41S|DCN_uc001tbu.3_Missense_Mutation_p.P41S NM_133503 NP_598010 P07585 PGS2_HUMAN Homo sapiens decorin (DCN), transcript variant A2, mRNA. 41 organ morphogenesis extracellular space central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 CGGTCATCAGGAACTTCTGGG 0.537000 OREG0022021 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 34 0 0 0.00283554 0 0 ZFHX3 463 broad.mit.edu 37 16 72992847 72992847 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:72992847G>A uc002fck.3 - 1 1871 c.1198C>T c.(1198-1200)Ctg>Ttg p.L400L ZFHX3_uc002fcl.3_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 400 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AGGTTCAACAGGGTGCTGGGG 0.622000 70 31 0 0 0.00127121 0 0 PAGE3 139793 broad.mit.edu 37 X 55287011 55287011 + RNA SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:55287011C>T uc022bxs.1 - 3 c.470G>A PAGE3_uc011mon.2_Non-coding_Transcript Homo sapiens P antigen family, member 3 (prostate associated) (PAGE3), non-coding RNA. endometrium(1)|kidney(1)|lung(1) 3 CAGAAATTCTCCCTTGACATT 0.393000 10 8 0 0 0.000673444 0 0 CERS6 253782 broad.mit.edu 37 2 169313054 169313054 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:169313054C>T uc002uec.1 + 0 220 c.96C>T c.(94-96)ttC>ttT p.F32F CERS6_uc002ueb.1_Silent_p.F32F NM_203463 NP_982288 Q6ZMG9 CERS6_HUMAN Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA. 32 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity AGGCCACCTTCCCGCAGGCTG 0.582000 54 9 0 0 0.000673444 0 0 RGPD3 653489 broad.mit.edu 37 2 107041433 107041433 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:107041433G>A uc010ywi.1 - 19 3047 c.2990C>T c.(2989-2991)tCa>tTa p.S997L NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA. 997 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCCAGCACCTGAAAATCCCTT 0.378000 147 100 0 0 0.000781405 0 0 C10orf12 26148 broad.mit.edu 37 10 98741766 98741766 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:98741766C>T uc001kmv.3 + 0 726 c.619C>T c.(619-621)Cgt>Tgt p.R207C C10orf12_uc009xvg.2_Missense_Mutation_p.R517C NM_015652 NP_056467 Q8N655 CJ012_HUMAN Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA. 207 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) GCCAACTGTTCGTACACTGGC 0.433000 36 35 0 0 0.00111076 0 0 INSRR 3645 broad.mit.edu 37 1 156821858 156821858 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:156821858G>A uc010pht.2 - 2 1062 c.763C>T c.(763-765)Cag>Tag p.Q255* NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Nonsense_Mutation_p.Q255* NM_014215 NP_055030 P14616 INSRR_HUMAN Homo sapiens insulin receptor-related receptor (INSRR), mRNA. 255 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity p.Q255H(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CAGGCACCCTGGAAGTAGAGG 0.667000 37 6 0 0 0.00116845 0 0 TMEM206 55248 broad.mit.edu 37 1 212558705 212558705 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:212558705G>A uc010pte.2 - 4 757 c.589C>T c.(589-591)Cct>Tct p.P197S TMEM206_uc001hjc.4_Missense_Mutation_p.P136S NM_001198862 NP_001185791 Q9H813 TM206_HUMAN Homo sapiens transmembrane protein 206 (TMEM206), transcript variant 1, mRNA. 136 integral to membrane breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 17 all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148) GTCAGAGGAGGAATGACCTCG 0.532000 68 12 0 0 0.00244969 0 0 SPEG 10290 broad.mit.edu 37 2 220354402 220354402 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:220354402C>T uc010fwg.3 + 35 8662 c.8662C>T c.(8662-8664)Cct>Tct p.P2888S NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 2888 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AGCCTCCACTCCTCAAGGGGT 0.627000 154 51 0 0 0.000781405 0 0 WDFY3 23001 broad.mit.edu 37 4 85611810 85611810 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:85611810G>A uc003hpd.3 - 60 9620 c.9212C>T c.(9211-9213)aCt>aTt p.T3071I NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA. 3071 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TTCATAAACAGTCATGGCCTA 0.478000 23 14 0 0 0.000308642 0 0 FOXP1 27086 broad.mit.edu 37 3 71026984 71026984 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:71026984G>A uc003dol.3 - 10 1666 c.1343C>T c.(1342-1344)tCg>tTg p.S448L FOXP1_uc003dom.3_Missense_Mutation_p.S372L|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Missense_Mutation_p.S448L|FOXP1_uc003doo.3_Missense_Mutation_p.S448L|FOXP1_uc003dop.3_Missense_Mutation_p.S448L|FOXP1_uc021xao.1_Missense_Mutation_p.S448L|FOXP1_uc003doq.1_Missense_Mutation_p.S447L|FOXP1_uc003doi.3_Missense_Mutation_p.S348L|FOXP1_uc003dok.3_Missense_Mutation_p.S374L|FOXP1_uc003doj.3_Missense_Mutation_p.S450L|FOXP1_uc003dor.1_Missense_Mutation_p.S226L NM_001244814 NP_001231743 Q9H334 FOXP1_HUMAN Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA. 448 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) TCTACCTGACGAAATGGGCAC 0.488000 T PAX5 ALL 83 31 0 0 0.00209593 0 0 GABRG1 2565 broad.mit.edu 37 4 46043158 46043158 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:46043158G>A uc003gxb.3 - 8 1397 c.1245C>T c.(1243-1245)ttC>ttT p.F415F NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA. 415 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) AGCAACAGAAGAAGCTGGCAC 0.413000 29 6 0 0 0.000157383 0 0 GUCA1C 9626 broad.mit.edu 37 3 108626884 108626884 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:108626884C>T uc003dxj.2 - 3 683 c.615G>A c.(613-615)aaG>aaA p.K205K GUCA1C_uc003dxk.2_3'UTR NM_005459 NP_005450 O95843 GUC1C_HUMAN Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA. 205 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 TCATTTTCACCTTCCCTAGAC 0.453000 21 8 0 0 0.000274275 0 0 ARID1B 57492 broad.mit.edu 37 6 157405823 157405823 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:157405823C>T uc003qqp.3 + 4 2026 c.2026C>T c.(2026-2028)Ccc>Tcc p.P676S ARID1B_uc003qqo.3_Missense_Mutation_p.P689S|ARID1B_uc003qqn.3_Missense_Mutation_p.P676S|ARID1B_uc003qqq.1_Missense_Mutation_p.P60S NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA. 676 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity 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) TGATGACCTCCCCACGGGAAC 0.502000 25 20 0 0 0.00152264 0 0 ABCA2 20 broad.mit.edu 37 9 139915991 139915991 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:139915991G>A uc004ckm.1 - 7 887 c.837C>T c.(835-837)atC>atT p.I279I ABCA2_uc022bpy.1_Silent_p.I180I|ABCA2_uc022bpz.1_Silent_p.I250I|ABCA2_uc011mem.1_Silent_p.I249I|ABCA2_uc004ckl.1_Silent_p.I180I|ABCA2_uc004cko.1_Silent_p.I26I|ABCA2_uc010nca.3_Silent_p.I180I NM_212533 NP_997698 Q9BZC7 ABCA2_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA. 249 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GCACAGTGAGGATCCGGCCCA 0.697000 5 4 0 0 0.000602214 0 0 DEFB132 400830 broad.mit.edu 37 20 238422 238422 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:238422G>A uc002wdb.3 + 0 46 c.3G>A c.(1-3)atG>atA p.M1I NM_207469 NP_997352 Q7Z7B7 DB132_HUMAN Homo sapiens defensin, beta 132 (DEFB132), mRNA. 1 defense response to bacterium extracellular region breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 4 CTTCAGCCATGAAGTTCCTGC 0.522000 13 6 0 0 0.000157383 0 0 CDC42EP1 11135 broad.mit.edu 37 22 37962599 37962599 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:37962599C>T uc003asz.4 + 1 646 c.243C>T c.(241-243)ttC>ttT p.F81F NM_152243 NP_689449 Q00587 BORG5_HUMAN Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA. 81 positive regulation of pseudopodium assembly|regulation of cell shape Golgi apparatus|actin cytoskeleton|endomembrane system|plasma membrane protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5) 15 Melanoma(58;0.0574) CCCGCAGCTTCCTGGCCAAGA 0.706000 32 14 0 0 0.00244969 0 0 FBN1 2200 broad.mit.edu 37 15 48704789 48704789 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:48704789C>T uc001zwx.2 - 64 8598 c.8203G>A c.(8203-8205)Gaa>Aaa p.E2735K FBN1_uc010beo.2_Non-coding_Transcript NM_000138 NP_000129 P35555 FBN1_HUMAN Homo sapiens fibrillin 1 (FBN1), mRNA. 2735 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding p.N2734N(1) NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GCATCAGTTTCGTTTGTGCTT 0.498000 21 43 0 0 0.00222228 0 0 FAM160B2 64760 broad.mit.edu 37 8 21958475 21958475 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:21958475C>T uc011kyx.2 + 11 1659 c.1608C>T c.(1606-1608)atC>atT p.I536I FAM160B2_uc011kyy.2_Non-coding_Transcript NM_022749 NP_073586 Q86V87 F16B2_HUMAN Homo sapiens family with sequence similarity 160, member B2 (FAM160B2), mRNA. 536 endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1) 9 TGACCGAGATCGTCAACAGGT 0.478000 16 4 0 0 0.00024832 0 0 BCAM 4059 broad.mit.edu 37 19 45321855 45321855 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:45321855C>T uc002ozu.3 + 8 1199 c.1155C>T c.(1153-1155)tcC>tcT p.S385S BCAM_uc002ozt.1_Silent_p.S385S NM_005581 NP_005572 P50895 BCAM_HUMAN Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA. 385 Ig-like C2-type 2. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) TGAACTGCTCCGTGCACGGCC 0.647000 51 42 0 0 0.00222228 0 0 MTOR 2475 broad.mit.edu 37 1 11190724 11190724 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:11190724G>A uc001asd.3 - 38 5596 c.5475C>T c.(5473-5475)atC>atT p.I1825I MTOR_uc001asc.3_Silent_p.I30I NM_004958 NP_004949 P42345 MTOR_HUMAN Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA. 1825 FAT. 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 tggcgttggtgatgttggCCC 0.607000 23 5 0 0 0.000602214 0 0 DMRTB1 63948 broad.mit.edu 37 1 53927229 53927229 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:53927229C>T uc001cvq.1 + 1 716 c.661C>T c.(661-663)Ccg>Tcg p.P221S NM_033067 NP_149056 Q96MA1 DMRTB_HUMAN Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA. 221 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(5)|ovary(1)|skin(1) 10 CTGCCCGTTCCCGCTGGGCTA 0.657000 67 23 0 0 0.00188189 0 0 ASPM 259266 broad.mit.edu 37 1 197111575 197111575 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:197111575G>A uc001gtu.3 - 2 2064 c.1807C>T c.(1807-1809)Cat>Tat p.H603Y ASPM_uc001gtv.3_Missense_Mutation_p.H603Y|ASPM_uc001gtw.4_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA. 603 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 GGAGAAAAATGGATTCTTTTG 0.378000 203 37 0 0 0.000953801 0 0 VPS13A 23230 broad.mit.edu 37 9 79853039 79853039 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:79853039C>T uc004akr.3 + 17 1977 c.1717C>T c.(1717-1719)Cca>Tca p.P573S VPS13A_uc004akp.4_Missense_Mutation_p.P573S|VPS13A_uc004akq.4_Missense_Mutation_p.P573S|VPS13A_uc004aks.3_Missense_Mutation_p.P573S NM_033305 NP_150648 Q96RL7 VP13A_HUMAN Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA. 573 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TGAGATAAATCCATTAGATGA 0.318000 94 60 0 0 0.000781405 0 0 TPO 7173 broad.mit.edu 37 2 1500483 1500483 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:1500483G>A uc002qwr.3 + 12 2418 c.2332G>A c.(2332-2334)Gag>Aag p.E778K TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.E778K|TPO_uc002qwx.3_Missense_Mutation_p.E721K|TPO_uc002qwu.3_Missense_Mutation_p.E721K|TPO_uc010yio.2_Missense_Mutation_p.E605K|TPO_uc010yip.2_Missense_Mutation_p.E778K|TPO_uc002qwy.1_Missense_Mutation_p.E118K|TPO_uc002qwz.3_Intron NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 778 Sushi. cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CCAAGGCCGGGAGCAGCTCAC 0.552000 102 80 0 0 0.000781405 0 0 THADA 63892 broad.mit.edu 37 2 43625187 43625187 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:43625187G>A uc002rsw.4 - 28 4502 c.4150C>T c.(4150-4152)Cga>Tga p.R1384* THADA_uc010far.3_Nonsense_Mutation_p.R579*|THADA_uc002rsx.4_Nonsense_Mutation_p.R1384*|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Nonsense_Mutation_p.R1093*|THADA_uc010fat.1_Nonsense_Mutation_p.R531* NM_001083953 NP_071348 Q6YHU6 THADA_HUMAN Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA. 1384 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) AACAGAGTTCGAATGGTATTA 0.493000 376 325 0 0 0.000781405 0 0 DIRAS2 54769 broad.mit.edu 37 9 93375766 93375766 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:93375766G>A uc022bjs.1 - 0 344 c.344C>T c.(343-345)cCc>cTc p.P115L DIRAS2_uc004aqx.1_Missense_Mutation_p.P115L NM_017594 NP_060064 Q96HU8 DIRA2_HUMAN Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA. 115 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity kidney(1)|large_intestine(6)|lung(3)|skin(2) 12 CAGCATGATGGGGATGCTCTC 0.582000 86 22 0 0 0.00047179 0 0 FAM18A 780776 broad.mit.edu 37 16 10867934 10867934 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:10867934C>T uc010buo.1 - 3 557 c.286G>A c.(286-288)Gaa>Aaa p.E96K FAM18A_uc010uyr.1_Non-coding_Transcript|FAM18A_uc010uys.1_Non-coding_Transcript|FAM18A_uc010uyt.1_Non-coding_Transcript|FAM18A_uc010bun.2_Non-coding_Transcript|FAM18A_uc010uyu.1_Non-coding_Transcript|FAM18A_uc002dad.3_Non-coding_Transcript|FAM18A_uc002daf.1_Non-coding_Transcript|FAM18A_uc002dae.1_Missense_Mutation_p.E32K NM_001079512 NP_001072980 A6NH52 FA18A_HUMAN Homo sapiens family with sequence similarity 18, member A (FAM18A), mRNA. 96 integral to membrane kidney(1)|lung(1)|upper_aerodigestive_tract(1) 3 TTCCCATCTTCATCTATCTGG 0.498000 9 13 0 0 0.00244969 0 0 HECW2 57520 broad.mit.edu 37 2 197183280 197183280 + Silent SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:197183280A>T uc002utm.1 - 8 2517 c.2334T>A c.(2332-2334)acT>acA p.T778T HECW2_uc002utl.1_Silent_p.T422T NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA. 778 Interaction with TP73. 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 TCCTACCTCCAGTAGCGCCCT 0.582000 49 28 0 0 0.00178596 0 0 PCSK1 5122 broad.mit.edu 37 5 95728839 95728839 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:95728839G>A uc003kls.2 - 13 2367 c.2128C>T c.(2128-2130)Cct>Tct p.P710S PCSK1_uc010jbi.2_Missense_Mutation_p.P400S|PCSK1_uc021ybq.1_Missense_Mutation_p.P663S NM_000439 NP_000430 P29120 NEC1_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA. 710 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGCTGGGAAGGTTTGTTCAGC 0.418000 93 42 0 0 0.000781405 0 0 HS3ST5 222537 broad.mit.edu 37 6 114378693 114378693 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:114378693G>A uc003pwg.4 - 1 801 c.769C>T c.(769-771)Cgc>Tgc p.R257C BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Missense_Mutation_p.R257C NM_153612 NP_705840 Q8IZT8 HS3S5_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA. 257 heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 41 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) GTGATGAGGCGATCTCCATCG 0.423000 28 23 0 0 0.00278032 0 0 LILRB2 10288 broad.mit.edu 37 19 54783445 54783445 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:54783445C>T uc002qfb.3 - 4 679 c.413G>A c.(412-414)gGa>gAa p.G138E LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.G138E|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.G138E|LILRB2_uc010yet.2_Missense_Mutation_p.G22E|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank NM_005874 NP_005865 Q8N423 LIRB2_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA. 138 Ig-like C2-type 2. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGTCACCCTTCCTCCTGAGGT 0.582000 51 46 0 0 0.000781405 0 0 LRP8 7804 broad.mit.edu 37 1 53726184 53726184 + Missense_Mutation SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:53726184T>C uc001cvi.2 - 12 2245 c.2008A>G c.(2008-2010)Aac>Gac p.N670D LRP8_uc001cvh.2_Missense_Mutation_p.N223D|LRP8_uc001cvj.2_Missense_Mutation_p.N670D|LRP8_uc001cvk.2_Missense_Mutation_p.N500D|LRP8_uc001cvl.2_Missense_Mutation_p.N541D|LRP8_uc001cvm.1_Missense_Mutation_p.N255D NM_004631 NP_004622 Q14114 LRP8_HUMAN Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA. 670 cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 TGTGGGTTGTTGAGGTTCTCA 0.537000 57 59 0 0 0.000781405 0 0 PBX1 5087 broad.mit.edu 37 1 164532502 164532502 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:164532502G>A uc001gct.3 + 1 682 c.219G>A c.(217-219)atG>atA p.M73I PBX1_uc010pku.2_Missense_Mutation_p.M73I|PBX1_uc001gcs.3_Missense_Mutation_p.M73I|PBX1_uc010pkv.2_Intron NM_002585 NP_002576 P40424 PBX1_HUMAN Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA. 73 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 GCCACAGAATGAAGCCTGCCT 0.368000 T """TCF3, EWSR1""" """pre B-ALL, myoepithelioma""" 120 22 0 0 0.00278032 0 0 KCNH4 23415 broad.mit.edu 37 17 40321672 40321672 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:40321672G>A uc002hzb.2 - 8 1746 c.1413C>T c.(1411-1413)ttC>ttT p.F471F NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA. 471 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) TCACGTTCCCGAACACCACAG 0.657000 44 20 0 0 0.00047179 0 0 ELMO1 9844 broad.mit.edu 37 7 37354483 37354483 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:37354483C>T uc022abv.1 - 3 873 c.163G>A c.(163-165)Gat>Aat p.D55N ELMO1_uc003tfk.2_Missense_Mutation_p.D55N|ELMO1_uc010kxg.2_Missense_Mutation_p.D55N NM_001206482 NP_001193411 Q92556 ELMO1_HUMAN Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA. 55 Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 TTTGAACTATCGGCATGCTGG 0.323000 32 23 0 0 0.001512 0 0 ATF7IP2 80063 broad.mit.edu 37 16 10532044 10532044 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:10532044G>A uc002czw.3 + 3 1206 c.1047G>A c.(1045-1047)ggG>ggA p.G349G ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Silent_p.G349G|ATF7IP2_uc002czv.3_Silent_p.G349G|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript NM_024997 NP_079273 Q5U623 MCAF2_HUMAN Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA. 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 AACGCATTGGGAAGACAGAGT 0.343000 47 27 0 0 0.00127121 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431494 140431494 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140431494C>T uc003lik.1 + 0 516 c.439C>T c.(439-441)Cct>Tct p.P147S NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN Homo sapiens protocadherin beta 1 (PCDHB1), mRNA. 147 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAGAGCACCCCTTTGGGTTC 0.532000 13 23 0 0 0.00047179 0 0 FSHR 2492 broad.mit.edu 37 2 49244651 49244651 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:49244651C>T uc002rww.3 - 3 461 c.351G>A c.(349-351)caG>caA p.Q117Q FSHR_uc010fbn.3_Silent_p.Q117Q|FSHR_uc002rwx.3_Silent_p.Q117Q|FSHR_uc010fbo.2_Non-coding_Transcript NM_000145 NP_000136 P23945 FSHR_HUMAN Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA. 117 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TGGGAAGGTTCTGGAAGGCCT 0.393000 Gonadal Dysgenesis, 46 XX 15 11 0 0 0.00136819 0 0 BHLHE22 27319 broad.mit.edu 37 8 65493401 65493401 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:65493401C>T uc003xvi.3 + 0 607 c.54C>T c.(52-54)ttC>ttT p.F18F LOC401463_uc003xvh.3_Intron NM_152414 NP_689627 Q8NFJ8 BHE22_HUMAN Homo sapiens basic helix-loop-helix family, member e22 (BHLHE22), mRNA. 18 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 ACGACCTCTTCCTGCACAAGA 0.771000 6 9 0 0 0.000673444 0 0 NLRP12 91662 broad.mit.edu 37 19 54313058 54313058 + Missense_Mutation SNP C T T rs139082917 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:54313058C>T uc002qcj.4 - 2 2075 c.1855G>A c.(1855-1857)Gag>Aag p.E619K NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.E619K|NLRP12_uc002qci.4_Missense_Mutation_p.E619K|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.E619K NM_144687 NP_653288 P59046 NAL12_HUMAN Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA. 619 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TCCTGGATCTCGTACAAGCAG 0.557000 89 32 0 0 0.00058488 0 0 ROS1 6098 broad.mit.edu 37 6 117718260 117718260 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:117718260C>T uc003pxp.1 - 6 796 c.597G>A c.(595-597)ttG>ttA p.L199L ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 199 Fibronectin type-III 2. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity p.P198L(1) TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TATTCCTAATCAAAGGTGCAG 0.403000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 25 17 0 0 0.000958276 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21542517 21542517 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:21542517C>T uc001vzp.3 + 2 657 c.628C>T c.(628-630)Cca>Tca p.P210S ARHGEF40_uc001vzn.1_Missense_Mutation_p.P210S|ARHGEF40_uc001vzo.1_Intron|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_5'UTR NM_018071 NP_060541 Q8TER5 ARH40_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA. 210 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 CTCTGGACCTCCAGGGCTTCC 0.617000 12 7 0 0 0.00198382 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672962 141672962 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:141672962C>T uc003vwx.1 - 0 612 c.528G>A c.(526-528)atG>atA p.M176I NM_176817 NP_789787 P59533 T2R38_HUMAN Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA. 176 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) TATTGTTATTCATGAATAGCA 0.408000 67 13 0 0 0.00244969 0 0 SYNPO2 171024 broad.mit.edu 37 4 119979005 119979005 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:119979005C>T uc010inb.3 + 4 3898 c.3702C>T c.(3700-3702)tcC>tcT p.S1234S SYNPO2_uc011cgh.2_3'UTR|SYNPO2_uc010inc.3_Silent_p.S1104S NM_133477 NP_597734 Q9UMS6 SYNP2_HUMAN Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA. 0 Z disc|nucleus 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CAATCATGTCCATGGAAACCA 0.433000 37 24 0 0 0.00278032 0 0 PDCL 5082 broad.mit.edu 37 9 125582721 125582721 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:125582721G>A uc004bmz.2 - 3 740 c.549C>T c.(547-549)atC>atT p.I183I NM_005388 NP_005379 Q13371 PHLP_HUMAN Homo sapiens phosducin-like (PDCL), mRNA. 183 signal transduction|visual perception endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 10 TATGAACCATGATGACAATGC 0.463000 67 36 0 0 0.000953801 0 0 MASP1 5648 broad.mit.edu 37 3 187003734 187003734 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:187003734G>A uc003frh.2 - 1 506 c.116C>T c.(115-117)tCc>tTc p.S39F MASP1_uc003fri.3_Missense_Mutation_p.S39F|MASP1_uc003frj.3_Intron|MASP1_uc003frk.2_Missense_Mutation_p.S39F|MASP1_uc011bse.2_Missense_Mutation_p.S13F NM_001879 NP_001870 P48740 MASP1_HUMAN Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA. 39 CUB 1.|Homodimerization (By similarity).|Interaction with FCN2.|Interaction with MBL2. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) ACTGGGATAGGAGTCTGGATA 0.478000 51 21 0 0 0.00278032 0 0 TCF21 6943 broad.mit.edu 37 6 134210763 134210763 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:134210763G>A uc003qei.4 + 0 505 c.228G>A c.(226-228)ggG>ggA p.G76G BC041459_uc003qeg.1_5'Flank|TCF21_uc003qej.2_Silent_p.G76G NM_003206 NP_938206 O43680 TCF21_HUMAN Homo sapiens transcription factor 21 (TCF21), transcript variant 2, mRNA. 76 branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus E-box binding|androgen receptor binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 13 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) GCCAGGAGGGGAAGCAGGTCC 0.692000 18 10 0 0 0.000978159 0 0 EIF2C3 192669 broad.mit.edu 37 1 36521258 36521258 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:36521258C>T uc001bzp.3 + 18 2840 c.2495C>T c.(2494-2496)tCa>tTa p.S832L EIF2C3_uc001bzq.3_Missense_Mutation_p.S598L NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA. 832 mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol RNA binding|protein binding NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4) 33 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AGTCACGTTTCAGGACAAAGC 0.393000 68 95 0 0 0.000781405 0 0 abParts 0 broad.mit.edu 37 14 107013112 107013112 + RNA SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:107013112C>T uc021ser.1 - 218 c.8764G>A Parts of antibodies, mostly variable regions. CCAGCCCCTTCCCTGGAGCCT 0.532000 55 17 0 0 0.000566183 0 0 SETBP1 26040 broad.mit.edu 37 18 42531786 42531786 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:42531786G>A uc010dni.3 + 3 2777 c.2481G>A c.(2479-2481)tgG>tgA p.W827* NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA. 827 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GTGGAACCTGGAAGCTGTCTC 0.507000 Schinzel-Giedion syndrome 71 14 0 0 0.000566183 0 0 IWS1 55677 broad.mit.edu 37 2 128262941 128262941 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:128262941G>A uc002ton.2 - 2 841 c.538C>T c.(538-540)Cct>Tct p.P180S IWS1_uc010yzl.1_Non-coding_Transcript|IWS1_uc010fma.2_Non-coding_Transcript NM_017969 NP_060439 Q96ST2 IWS1_HUMAN Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA. 180 Glu-rich. transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) CTGATTTGAGGTTTTAGAGCA 0.488000 106 76 0 0 0.000781405 0 0 SAA2-SAA4 100528017 broad.mit.edu 37 11 18269491 18269491 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:18269491G>A uc021qel.1 - 1 144 c.68C>T c.(67-69)tCg>tTg p.S23L SAA2-SAA4_uc009yhj.3_Missense_Mutation_p.S23L|SAA2-SAA4_uc001mnz.4_Missense_Mutation_p.S23L NM_001199744 NP_001186673 Homo sapiens SAA2-SAA4 readthrough (SAA2-SAA4), mRNA. GCCAAGGAACGAAAAGAAGCT 0.498000 23 19 0 0 0.00047179 0 0 NPY1R 4886 broad.mit.edu 37 4 164246629 164246629 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:164246629G>A uc003iqm.2 - 2 1446 c.981C>T c.(979-981)ttC>ttT p.F327F NPY1R_uc021xtv.1_3'UTR|NPY1R_uc011cjj.2_Silent_p.F84F NM_000909 NP_000900 P25929 NPY1R_HUMAN Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA. 327 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding p.F327F(2)|p.F327V(1) breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) AGTCTCTCTGGAAGTTTTTGT 0.433000 49 14 0 0 0.000422831 0 0 ALPPL2 251 broad.mit.edu 37 2 233274158 233274158 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:233274158G>A uc002vss.4 + 10 1353 c.1300_splice c.e10+1 p.G434_splice NM_031313 NP_112603 P10696 PPBN_HUMAN Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA. 434 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) GAGCGAGAGCGGTGAGTGCCG 0.662000 6 4 0 0 0.00116845 0 0 C1orf173 127254 broad.mit.edu 37 1 75055375 75055375 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:75055375C>T uc001dgg.3 - 11 2335 c.2116G>A c.(2116-2118)Gaa>Aaa p.E706K CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.E500K NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 706 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GTGCTTTCTTCCCAAAGCTTA 0.478000 127 37 0 0 0.00111076 0 0 GPR148 344561 broad.mit.edu 37 2 131487309 131487309 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:131487309G>A uc002trv.2 + 0 667 c.585G>A c.(583-585)gaG>gaA p.E195E NM_207364 NP_997247 Q8TDV2 GP148_HUMAN Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA. 195 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) CCCAGCTGGAGGAGCAAGGAG 0.582000 69 22 0 0 0.00229938 0 0 KIR3DX1 90011 broad.mit.edu 37 19 55045040 55045040 + RNA SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:55045040C>T uc010yfa.1 + 2 c.266C>T KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA. p.R54W(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) TTCCCATCTTCGGTTTGTCAT 0.537000 42 16 0 0 0.00074312 0 0 MME 4311 broad.mit.edu 37 3 154836577 154836577 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:154836577G>A uc010hvr.1 + 7 908 c.697G>A c.(697-699)Gaa>Aaa p.E233K MME_uc003fab.1_Missense_Mutation_p.E233K|MME_uc003fac.1_Missense_Mutation_p.E233K|MME_uc003fad.1_Missense_Mutation_p.E233K|MME_uc003fae.1_Missense_Mutation_p.E233K NM_007289 NP_009220 P08473 NEP_HUMAN Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA. 233 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) AGATTACTATGAATGCACTGG 0.284000 7 9 0 0 0.00136819 0 0 ZNF385D 79750 broad.mit.edu 37 3 21552420 21552420 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:21552420C>T uc003cce.3 - 3 780 c.372G>A c.(370-372)aaG>aaA p.K124K ZNF385D_uc010hfb.1_Non-coding_Transcript NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN Homo sapiens zinc finger protein 385D (ZNF385D), mRNA. 124 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 TTGCGCTGTCCTTGGCAGTTA 0.463000 77 25 0 0 0.00127121 0 0 OSBP2 23762 broad.mit.edu 37 22 31286918 31286918 + Silent SNP G C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:31286918G>C uc003aiy.1 + 7 1931 c.1827G>C c.(1825-1827)ctG>ctC p.L609L OSBP2_uc011ala.1_Silent_p.L443L|OSBP2_uc010gwc.1_Silent_p.L436L|OSBP2_uc011alb.1_Silent_p.L560L|OSBP2_uc003aiz.1_Silent_p.L608L|OSBP2_uc003aja.1_Silent_p.L242L|OSBP2_uc011alc.2_Silent_p.L351L|OSBP2_uc011ald.1_Silent_p.L153L|OSBP2_uc010gwd.1_Silent_p.L154L NM_030758 NP_110385 Q969R2 OSBP2_HUMAN Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA. 609 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 CCTTCGAGCTGGACCGCCTCG 0.657000 OREG0026467 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 120 9 0 0 0.000673444 0 0 MLL 4297 broad.mit.edu 37 11 118365450 118365450 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:118365450C>T uc001pta.3 + 17 5345 c.5322C>T c.(5320-5322)tcC>tcT p.S1774S MLL_uc001ptb.3_Silent_p.S1777S NM_005933 NP_005924 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA. 1774 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) TCAAAAAGTCCAGGTTTTGGG 0.328000 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" 31 17 0 0 0.00152264 0 0 CD163 9332 broad.mit.edu 37 12 7653826 7653826 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:7653826C>T uc001qsz.3 - 2 494 c.366G>A c.(364-366)ggG>ggA p.G122G CD163_uc001qta.3_Silent_p.G122G|CD163_uc009zfw.2_Silent_p.G122G NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 122 SRCR 1. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 CTGACTCATTCCCACGACAAG 0.483000 49 76 0 0 0.000781405 0 0 CLEC3A 10143 broad.mit.edu 37 16 78064625 78064625 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:78064625G>A uc002ffh.4 + 2 562 c.481G>A c.(481-483)Ggt>Agt p.G161S CLEC3A_uc021tlr.1_Missense_Mutation_p.G109S NM_005752 NP_005743 O75596 CLC3A_HUMAN Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA. 161 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 ACAGCCTAACGGTGGCAAGCG 0.527000 48 21 0 0 0.00229938 0 0 KCNS3 3790 broad.mit.edu 37 2 18112700 18112700 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:18112700C>T uc021veh.1 + 0 425 c.425C>T c.(424-426)aCc>aTc p.T142I KCNS3_uc002rcv.3_Missense_Mutation_p.T142I|KCNS3_uc002rcw.3_Missense_Mutation_p.T142I NM_002252 NP_002243 Q9BQ31 KCNS3_HUMAN Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA. 142 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GATGTGAGTACCGACTCCTCG 0.478000 42 46 0 0 0.0025221 0 0 NPY1R 4886 broad.mit.edu 37 4 164246778 164246778 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:164246778G>A uc003iqm.2 - 2 1297 c.832C>T c.(832-834)Cct>Tct p.P278S NPY1R_uc021xtv.1_3'UTR|NPY1R_uc011cjj.2_Missense_Mutation_p.P35S NM_000909 NP_000900 P25929 NPY1R_HUMAN Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA. 278 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) ATGGTAAGAGGGAGCCAGCAG 0.433000 15 34 0 0 0.0024448 0 0 OR6C2 341416 broad.mit.edu 37 12 55846191 55846191 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:55846191C>T uc001sgz.1 + 0 194 c.194C>T c.(193-195)tCc>tTc p.S65F NM_054105 NP_473446 Q9NZP2 OR6C2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA. 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F64V(1) kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 AGAAATTTTTCCTTCTTAGAA 0.398000 20 29 0 0 0.00106085 0 0 NUCB1 4924 broad.mit.edu 37 19 49416799 49416799 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:49416799C>T uc002plb.4 + 6 1069 c.735C>T c.(733-735)ccC>ccT p.P245P NUCB1_uc002pla.3_Silent_p.P245P NM_006184 NP_006175 Q02818 NUCB1_HUMAN Homo sapiens nucleobindin 1 (NUCB1), mRNA. 245 Binds to GNAI2 and GNAI3 (By similarity).|EF-hand 1. ER-Golgi intermediate compartment|Golgi apparatus|extracellular space|membrane|microtubule cytoskeleton DNA binding|calcium ion binding cervix(1)|endometrium(4)|large_intestine(4)|lung(8) 17 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) GGTTTAACCCCAAGACCTTCT 0.562000 33 35 0 0 0.000953801 0 0 MMP12 4321 broad.mit.edu 37 11 102733896 102733896 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:102733896C>T uc001phk.3 - 10 1442 c.1345G>A c.(1345-1347)Gaa>Aaa p.E449K NM_002426 NP_002417 P39900 MMP12_HUMAN Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA. 450 Hemopexin-like 4. positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AAGTCATATTCAAATTGGTTA 0.313000 32 34 0 0 0.00148497 0 0 UNC13C 440279 broad.mit.edu 37 15 54305220 54305220 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:54305220G>A uc021smr.1 + 0 120 c.120G>A c.(118-120)aaG>aaA p.K40K UNC13C_uc021sms.1_Silent_p.K40K NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 40 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AGCAGAAAAAGGATCAAGACT 0.368000 10 27 0 0 0.00127121 0 0 ZNF229 7772 broad.mit.edu 37 19 44933669 44933669 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:44933669C>T uc002oze.1 - 5 1721 c.1287G>A c.(1285-1287)ggG>ggA p.G429G ZNF229_uc010ejk.1_Silent_p.G83G|ZNF229_uc010ejl.1_Silent_p.G423G NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN Homo sapiens zinc finger protein 229 (ZNF229), mRNA. 429 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) AGGGCTTCTCCCCTGTGTGCA 0.537000 35 9 0 0 0.000274275 0 0 DNAH17 8632 broad.mit.edu 37 17 76526586 76526587 + Missense_Mutation DNP GG AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:76526586_76526587GG>AA uc010dhp.2 - 20 3247_3248 c.3122_3123CC>TT c.(3121-3123)tcc>tTT p.S1041F NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GCTTCTCGTAGGAGTCGATCTG 0.629000 111 21 0 0 6.4e-05 0 0 SUSD2 56241 broad.mit.edu 37 22 24581879 24581879 + Missense_Mutation SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:24581879T>C uc002zzn.1 + 7 1365 c.1321T>C c.(1321-1323)Tac>Cac p.Y441H NM_019601 NP_062547 Q9UGT4 SUSD2_HUMAN Homo sapiens sushi domain containing 2 (SUSD2), mRNA. 441 immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 CTGCCGCAACTACCGGCCCCC 0.657000 7 13 0 0 0.00244969 0 0 DOT1L 84444 broad.mit.edu 37 19 2226333 2226333 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:2226333C>T uc002lvc.1 + 12 2462 c.1695C>T c.(1693-1695)tcC>tcT p.S565S DOT1L_uc002lvb.4_Silent_p.S1271S NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA. 1271 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCAGAACTCCCTGTTCACGT 0.687000 14 6 0 0 0.00116845 0 0 GSN 2934 broad.mit.edu 37 9 124074660 124074660 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:124074660G>A uc004blf.1 + 4 771 c.710G>A c.(709-711)aGa>aAa p.R237K GSN_uc004bld.1_Missense_Mutation_p.R186K|GSN_uc010mvr.1_Missense_Mutation_p.R197K|GSN_uc010mvq.1_Missense_Mutation_p.R197K|GSN_uc010mvu.1_Missense_Mutation_p.R186K|GSN_uc010mvt.1_Missense_Mutation_p.R186K|GSN_uc010mvs.1_Missense_Mutation_p.R186K|GSN_uc004ble.1_Missense_Mutation_p.R186K|GSN_uc010mvv.1_Missense_Mutation_p.R186K|GSN_uc011lyh.1_Missense_Mutation_p.R203K|GSN_uc011lyi.1_Missense_Mutation_p.R186K|GSN_uc011lyj.1_Missense_Mutation_p.R210K|GSN_uc004blg.1_5'UTR NM_000177 NP_000168 P06396 GELS_HUMAN Homo sapiens gelsolin (GSN), transcript variant 1, mRNA. 237 actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding p.R237T(1)|p.R186T(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1) 21 CGGTATGAAAGACTGAAGGCC 0.617000 103 31 0 0 0.00058488 0 0 DDX1 1653 broad.mit.edu 37 2 15763586 15763586 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:15763586C>T uc002rce.3 + 18 1762 c.1474C>T c.(1474-1476)Ctg>Ttg p.L492L DDX1_uc010yjq.1_Silent_p.L400L|DDX1_uc021vee.1_Silent_p.L411L NM_004939 NP_004930 Q92499 DDX1_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 (DDX1), mRNA. 492 Necessary for interaction with RELA. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA/RNA helicase activity|RNA helicase activity|chromatin binding|exonuclease activity|poly(A) RNA binding|protein binding|transcription cofactor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) TATTAAAATCCTGAAAGGGGA 0.353000 36 17 0 0 0.000958276 0 0 GGT2 728441 broad.mit.edu 37 22 21563091 21563091 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:21563091G>A uc011aic.1 - 2 318 c.60C>T c.(58-60)atC>atT p.I20I Homo sapiens gamma-glutamyltransferase 3 pseudogene, mRNA (cDNA clone IMAGE:9052120). TGTCTGTGGTGATCTGCGTGC 0.647000 45 15 0 0 0.000566183 0 0 STXBP4 252983 broad.mit.edu 37 17 53237186 53237186 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:53237186C>T uc002iuf.1 + 17 1783 c.1576C>T c.(1576-1578)Cat>Tat p.H526Y STXBP4_uc010dcd.1_Missense_Mutation_p.H504Y NM_178509 NP_848604 Q6ZWJ1 STXB4_HUMAN Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA. 526 WW. cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 ATCCTGGATCCATCCCGTGAT 0.433000 14 21 0 0 0.00047179 0 0 KCNA5 3741 broad.mit.edu 37 12 5155047 5155048 + Missense_Mutation DNP GG AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:5155047_5155048GG>AA uc001qni.3 + 0 1963_1964 c.1734_1735GG>AA c.(1732-1737)aggggc>agAAgc p.G579S NM_002234 NP_002225 P22460 KCNA5_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA. 579 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 GTGCCCGAAGGGGCAGCTGCCC 0.634000 21 13 0 0 6.4e-05 0 0 XKR6 286046 broad.mit.edu 37 8 10756373 10756373 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:10756373G>A uc003wtk.1 - 2 1042 c.1015C>T c.(1015-1017)Cac>Tac p.H339Y NM_173683 NP_775954 Q5GH73 XKR6_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA. 339 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) AGCAGCTTGTGATAGGAGGCT 0.557000 96 41 0 0 0.00148497 0 0 HECW1 23072 broad.mit.edu 37 7 43484569 43484569 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:43484569C>T uc003tid.1 + 10 2403 c.1798C>T c.(1798-1800)Ctc>Ttc p.L600F HECW1_uc011kbi.1_Missense_Mutation_p.L600F NM_015052 NP_055867 Q76N89 HECW1_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA. 600 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GAAGGATGGGCTCAGCGAGGT 0.701000 32 6 0 0 0.00198382 0 0 EPHA4 2043 broad.mit.edu 37 2 222347194 222347194 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:222347194G>A uc002vmq.3 - 4 1238 c.1196C>T c.(1195-1197)tCc>tTc p.S399F EPHA4_uc002vmr.2_Missense_Mutation_p.S399F|EPHA4_uc010zlm.1_Missense_Mutation_p.S340F NM_004438 NP_004429 P54764 EPHA4_HUMAN Homo sapiens EPH receptor A4 (EPHA4), mRNA. 399 Fibronectin type-III 1. S -> F (in a metastatic melanoma sample; somatic mutation). integral to plasma membrane ATP binding|ephrin receptor activity p.S399F(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) GTCAGTGATGGAGACTTTGGT 0.502000 210 152 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179647604 179647604 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179647604C>T uc021vsy.1 - 17 3254 c.3029G>A c.(3028-3030)aGc>aAc p.S1010N TTN_uc021vsz.1_Missense_Mutation_p.S964N|TTN_uc021vta.1_Missense_Mutation_p.S964N|TTN_uc021vtb.1_Missense_Mutation_p.S964N|TTN_uc002unb.2_Missense_Mutation_p.S1010N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 1010 Ig-like 3. 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) AAATCGCCCGCTGTCTTCCGC 0.498000 25 22 0 0 0.00188189 0 0 KCNH5 27133 broad.mit.edu 37 14 63447746 63447746 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:63447746G>A uc001xfx.3 - 5 837 c.786C>T c.(784-786)atC>atT p.I262I KCNH5_uc001xfy.3_Silent_p.I262I|KCNH5_uc001xfz.1_Silent_p.I204I|KCNH5_uc001xga.3_Silent_p.I204I NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA. 262 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) AATTTAAAACGATGTCAACCA 0.423000 50 15 0 0 0.000308642 0 0 DMBT1 1755 broad.mit.edu 37 10 124380882 124380882 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:124380882G>A uc001lgk.1 + 40 5313 c.5207G>A c.(5206-5208)gGt>gAt p.G1736D DMBT1_uc001lgl.1_Missense_Mutation_p.G1726D|DMBT1_uc001lgm.1_Missense_Mutation_p.G1108D|DMBT1_uc021qaf.1_Missense_Mutation_p.G1736D|DMBT1_uc021qag.1_Missense_Mutation_p.G1726D|DMBT1_uc021qah.1_Missense_Mutation_p.G1108D|DMBT1_uc009xzz.1_Missense_Mutation_p.G1736D|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.G439D|DMBT1_uc009yac.1_Missense_Mutation_p.G50D NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 1736 SRCR 13. 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) GAAGACGCTGGTGTCATCTGC 0.562000 22 55 0 0 0.000781405 0 0 KIAA2022 340533 broad.mit.edu 37 X 73961340 73961340 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:73961340C>T uc004eby.3 - 2 3669 c.3052G>A c.(3052-3054)Ggc>Agc p.G1018S NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 1018 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TCATCATCGCCATCCTTTTCA 0.463000 2 23 0 0 0.00229938 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342342 60342342 + RNA SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:60342342G>A uc010woz.2 - 13 c.1787C>T Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA. breast(2)|kidney(1)|lung(2) 5 TAAGCCTAGGGAAATTATCCA 0.483000 44 85 0 0 0.000781405 0 0 A2ML1 144568 broad.mit.edu 37 12 8976394 8976394 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:8976394G>A uc001quz.4 + 2 423 c.325G>A c.(325-327)Gag>Aag p.E109K NM_144670 NP_653271 B3KVV6 B3KVV6_HUMAN Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA. 0 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 CAGCTTTGAGGAGAAGAAAAA 0.502000 69 30 0 0 0.00209593 0 0 GTF2E1 2960 broad.mit.edu 37 3 120495420 120495420 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:120495420C>T uc003edz.4 + 3 915 c.801C>T c.(799-801)gcC>gcT p.A267A NM_005513 NP_005504 P29083 T2EA_HUMAN Homo sapiens general transcription factor IIE, polypeptide 1, alpha 56kDa (GTF2E1), mRNA. 267 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1) 22 GBM - Glioblastoma multiforme(114;0.159) TTCATCGAGCCTCACTGGAAG 0.453000 45 15 0 0 0.000308642 0 0 ARAP2 116984 broad.mit.edu 37 4 36212334 36212334 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:36212334C>T uc003gsq.2 - 5 1503 c.1165G>A c.(1165-1167)Gag>Aag p.E389K ARAP2_uc003gsr.1_Missense_Mutation_p.E389K NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA. 389 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 ACCTTGTCCTCGCTTATTTTC 0.338000 52 20 0 0 0.00121646 0 0 CLDN7 1366 broad.mit.edu 37 17 7164257 7164257 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:7164257C>T uc002gfm.4 - 1 1173 c.271G>A c.(271-273)Ggc>Agc p.G91S CLDN7_uc010cmc.3_Missense_Mutation_p.G91S|CLDN7_uc002gfn.4_Missense_Mutation_p.G91S NM_001307 NP_001298 O95471 CLD7_HUMAN Homo sapiens claudin 7 (CLDN7), transcript variant 1, mRNA. 91 calcium-independent cell-cell adhesion integral to membrane|lateral plasma membrane|tight junction identical protein binding|structural molecule activity kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 6 GCCAGGAAGCCCAGCACCAGG 0.632000 2 20 0 0 0.00121646 0 0 LRRC16A 55604 broad.mit.edu 37 6 25492246 25492246 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:25492246C>T uc011djw.2 + 14 1582 c.1214C>T c.(1213-1215)tCt>tTt p.S405F LRRC16A_uc010jpy.3_Missense_Mutation_p.S405F NM_017640 NP_060110 Q5VZK9 LR16A_HUMAN Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA. 405 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 ACTGTCTTCTCTCACCGGTAT 0.408000 36 8 0 0 0.000274275 0 0 DNAH17 8632 broad.mit.edu 37 17 76566443 76566443 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:76566443G>A uc010dhp.2 - 6 1055 c.930C>T c.(928-930)ttC>ttT p.F310F DNAH17_uc002jvv.2_Silent_p.F12F NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CCTTGGCAATGAAGGTGGGGA 0.602000 16 4 0 0 0.00116845 0 0 NUBPL 80224 broad.mit.edu 37 14 32142590 32142591 + Missense_Mutation DNP GG AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:32142590_32142591GG>AA uc001wrk.4 + 4 467_468 c.412_413GG>AA c.(412-414)ggt>AAt p.G138N NUBPL_uc010amj.3_Non-coding_Transcript|NUBPL_uc010tpl.2_Missense_Mutation_p.G42N NM_025152 NP_079428 Q8TB37 NUBPL_HUMAN Homo sapiens nucleotide binding protein-like (NUBPL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 138 mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis mitochondrion 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding endometrium(1)|lung(2)|prostate(1)|skin(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0102) CTTGAATTATGGTATTGCTTGG 0.272000 21 5 0 0 6.4e-05 0 0 FAM83C 128876 broad.mit.edu 37 20 33879595 33879595 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:33879595C>T uc021wck.1 - 1 631 c.513_splice c.e1+1 p.T171_splice FAM83C_uc002xcb.1_Splice_Site NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA. 171 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) aGGCCCTTACCGTGTGGGCCT 0.597000 80 29 0 0 0.0024448 0 0 TMPRSS11D 9407 broad.mit.edu 37 4 68704004 68704004 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:68704004G>A uc003hdq.3 - 4 426 c.361C>T c.(361-363)Caa>Taa p.Q121* LOC550112_uc003hdl.4_Intron|TMPRSS11D_uc011caj.2_Nonsense_Mutation_p.Q4* NM_004262 NP_004253 O60235 TM11D_HUMAN Homo sapiens transmembrane protease, serine 11D (TMPRSS11D), mRNA. 121 SEA. proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 CTAGTGAATTGAAATTTCATG 0.333000 31 7 0 0 0.000157383 0 0 ZNF385D 79750 broad.mit.edu 37 3 21466984 21466984 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:21466984C>T uc003cce.3 - 6 1260 c.852_splice c.e6+1 p.Q284_splice NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN Homo sapiens zinc finger protein 385D (ZNF385D), mRNA. 284 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 TGCTGTTTACCTGTTTAAGTT 0.408000 56 14 0 0 0.00244969 0 0 FBLN5 10516 broad.mit.edu 37 14 92343867 92343867 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:92343867G>A uc010aue.3 - 10 1745 c.1272C>T c.(1270-1272)atC>atT p.I424I FBLN5_uc010aud.3_Silent_p.I388I|FBLN5_uc001xzx.4_Silent_p.I383I|FBLN5_uc001xzw.3_5'Flank NM_006329 NP_006320 Q9UBX5 FBLN5_HUMAN Homo sapiens fibulin 5 (FBLN5), mRNA. 383 cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 28 all_cancers(154;0.0722) TCCCAGATTTGATCTGGAAAA 0.552000 56 18 0 0 0.000958276 0 0 MAPK15 225689 broad.mit.edu 37 8 144801597 144801597 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:144801597C>T uc003yzj.3 + 6 707 c.666C>T c.(664-666)tcC>tcT p.S222S NM_139021 NP_620590 Q8TD08 MK15_HUMAN Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA. 222 Protein kinase. protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1) 12 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CCGGCACGTCCACCCTCCACC 0.662000 39 14 0 0 0.00121646 0 0 TSHZ3 57616 broad.mit.edu 37 19 31767939 31767939 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:31767939C>T uc002nsy.4 - 1 2825 c.2760G>A c.(2758-2760)ggG>ggA p.G920G NM_020856 NP_065907 Q63HK5 TSH3_HUMAN Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA. 920 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) TGATGTACTTCCCTTCTGAGG 0.622000 54 13 0 0 0.00244969 0 0 APOB 338 broad.mit.edu 37 2 21233907 21233907 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:21233907C>T uc002red.3 - 25 5961 c.5833G>A c.(5833-5835)Gat>Aat p.D1945N NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1945 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CCTTTGTAATCATGAGAGAAA 0.468000 363 134 0 0 0.000781405 0 0 IL17A 3605 broad.mit.edu 37 6 52054084 52054084 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:52054084G>A uc003pak.1 + 2 507 c.462G>A c.(460-462)gtG>gtA p.V154V NM_002190 NP_002181 Q16552 IL17_HUMAN Homo sapiens interleukin 17A (IL17A), mRNA. 154 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) TCCACCATGTGGCCTAAGAGC 0.597000 12 11 0 0 0.000978159 0 0 KCNH8 131096 broad.mit.edu 37 3 19575308 19575308 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:19575308C>T uc003cbk.1 + 15 3236 c.3041C>T c.(3040-3042)cCa>cTa p.P1014L KCNH8_uc010hex.1_Missense_Mutation_p.P475L NM_144633 NP_653234 Q96L42 KCNH8_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA. 1014 Ser-rich. integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 TGCATCTCTCCACATTCAGAT 0.448000 142 38 0 0 0.0025221 0 0 EEFSEC 60678 broad.mit.edu 37 3 128060384 128060384 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:128060384C>T uc003eki.3 + 4 1133 c.1095C>T c.(1093-1095)gaC>gaT p.D365D NM_021937 NP_068756 P57772 SELB_HUMAN Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA. 365 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 CTATACTGGACTCTTTCAACT 0.493000 39 20 0 0 0.000958276 0 0 LRP1 4035 broad.mit.edu 37 12 57594821 57594821 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:57594821C>T uc001snd.3 + 64 10696 c.10230C>T c.(10228-10230)atC>atT p.I3410I NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 3410 LDL-receptor class A 22. aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCACAGACATCCACGTCTGCT 0.612000 59 26 0 0 0.00106085 0 0 CELSR1 9620 broad.mit.edu 37 22 46835148 46835148 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:46835148C>T uc003bhw.1 - 2 4344 c.4344G>A c.(4342-4344)ccG>ccA p.P1448P NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA. 1448 Laminin G-like 1. 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 p.P1448P(2)|p.P1448L(1)|p.P1448S(1) 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) AGGACTGGGGCGGGAAGCTCC 0.652000 132 31 0 0 0.00058488 0 0 PRDM8 56978 broad.mit.edu 37 4 81124550 81124550 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:81124550G>A uc010ijo.3 + 7 2773 c.1934G>A c.(1933-1935)aGg>aAg p.R645K PRDM8_uc003hmb.4_Missense_Mutation_p.R645K|PRDM8_uc003hmc.4_Missense_Mutation_p.R645K NM_020226 NP_064611 Q9NQV8 PRDM8_HUMAN Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA. 645 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 TACCATATGAGGTCGCACCAC 0.602000 17 7 0 0 0.000157383 0 0 GLIS1 148979 broad.mit.edu 37 1 53995472 53995472 + Missense_Mutation SNP G T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:53995472G>T uc001cvr.1 - 3 1516 c.949C>A c.(949-951)Cta>Ata p.L317I NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA. 317 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 ACCGTGTCTAGGTGGGTGCGC 0.662000 84 24 7.26314e-15 2.65445e-14 0.00127121 1 0 INSL6 11172 broad.mit.edu 37 9 5164164 5164164 + Missense_Mutation SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:5164164A>T uc003zix.3 - 1 407 c.391T>A c.(391-393)Ttt>Att p.F131I NM_007179 NP_009110 Q9Y581 INSL6_HUMAN Homo sapiens insulin-like 6 (INSL6), mRNA. 131 extracellular region hormone activity breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2) 15 all_hematologic(13;0.137) Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145) GATGAAGAAAATTCTCTTGTC 0.338000 4 26 0 0 0.000586117 0 0 CCDC63 160762 broad.mit.edu 37 12 111342572 111342572 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:111342572C>T uc001trv.1 + 10 1718 c.1523C>T c.(1522-1524)cCc>cTc p.P508L CCDC63_uc010sye.1_Missense_Mutation_p.P468L|CCDC63_uc001trw.1_Missense_Mutation_p.P423L NM_152591 NP_689804 Q8NA47 CCD63_HUMAN Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA. 508 p.P508T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 GGGGCTGACCCCTTCAGCGAC 0.592000 40 10 0 0 0.00136819 0 0 MXRA5 25878 broad.mit.edu 37 X 3238709 3238709 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:3238709G>A uc004crg.4 - 4 5174 c.5017C>T c.(5017-5019)Cct>Tct p.P1673S NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 1673 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) AATGGGAGAGGAATTGTTGTA 0.413000 72 80 0 0 0.000781405 0 0 KCNH7 90134 broad.mit.edu 37 2 163693155 163693155 + Missense_Mutation SNP C T T rs138091231 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:163693155C>T uc002uch.2 - 1 428 c.199G>A c.(199-201)Gac>Aac p.D67N KCNH7_uc002uci.3_Missense_Mutation_p.D67N NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA. 67 PAS. regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TGGAGAAAGTCGCAGGTGCAT 0.507000 42 9 0 0 0.000442599 0 0 POLR2B 5431 broad.mit.edu 37 4 57860960 57860961 + Missense_Mutation DNP TC AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:57860960_57860961TC>AA uc003hcl.1 + 4 547_548 c.504_505TC>AA c.(502-507)gatcgt>gaAAgt p.168_169DR>ES POLR2B_uc011cae.1_Missense_Mutation_p.161_162DR>ES|POLR2B_uc011caf.1_Missense_Mutation_p.93_94DR>ES NM_000938 NP_000929 P30876 RPB2_HUMAN Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA. 168 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) GCTTGACAGATCGTGATCTTTG 0.337000 35 32 0 0 6.4e-05 0 0 TRIP6 7205 broad.mit.edu 37 7 100468258 100468258 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:100468258C>T uc003uww.3 + 5 1062 c.892C>T c.(892-894)Cgc>Tgc p.R298C TRIP6_uc010lhk.2_Missense_Mutation_p.R32C|TRIP6_uc022aiv.1_Missense_Mutation_p.R277C|TRIP6_uc022ait.1_Missense_Mutation_p.R32C|TRIP6_uc022aiu.1_Missense_Mutation_p.R32C NM_003302 NP_003293 Q15654 TRIP6_HUMAN Homo sapiens thyroid hormone receptor interactor 6 (TRIP6), mRNA. 298 LIM zinc-binding 1. focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5) 14 Lung NSC(181;0.041)|all_lung(186;0.0581) GGCCCTTGATCGCGTCTTTCA 0.597000 8 75 0 0 0.000781405 0 0 CCL7 6354 broad.mit.edu 37 17 32598269 32598269 + Missense_Mutation SNP C T T rs149253093 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:32598269C>T uc002hhz.3 + 1 251 c.181C>T c.(181-183)Cgg>Tgg p.R61W CCL7_uc010ctf.3_Intron NM_006273 NP_006264 P80098 CCL7_HUMAN Homo sapiens chemokine (C-C motif) ligand 7 (CCL7), mRNA. 61 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding p.R61W(2) autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 Breast(3;0.00224) Breast(31;0.151)|Ovarian(249;0.17) BRCA - Breast invasive adenocarcinoma(366;0.155) CCACTGTCCCCGGGAAGCTGT 0.488000 49 26 0 0 0.00178596 0 0 VSTM2A 222008 broad.mit.edu 37 7 54612448 54612448 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:54612448C>T uc022adk.1 + 1 618 c.213C>T c.(211-213)gaC>gaT p.D71D VSTM2A_uc010kzf.3_Silent_p.D71D NM_182546 NP_872352 Q8TAG5 VTM2A_HUMAN Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA. 71 Ig-like V-type. extracellular region endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) GGCCGGAGGACCTGGATCCCG 0.731000 29 11 0 0 0.00185496 0 0 CLRN2 645104 broad.mit.edu 37 4 17528501 17528501 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:17528501G>A uc003gpg.1 + 2 597 c.495G>A c.(493-495)acG>acA p.T165T NM_001079827 NP_001073296 A0PK11 CLRN2_HUMAN Homo sapiens clarin 2 (CLRN2), mRNA. 165 integral to membrane breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1) 15 ACGACCTGACGGAACGAATCG 0.547000 51 22 0 0 0.00188189 0 0 TNFRSF11A 8792 broad.mit.edu 37 18 60029004 60029004 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:60029004G>A uc002lin.3 + 6 746 c.708G>A c.(706-708)agG>agA p.R236R TNFRSF11A_uc010dpv.3_Intron NM_003839 NP_003830 Q9Y6Q6 TNR11_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA. 236 adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of fever generation by positive regulation of prostaglandin secretion|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1) 29 Colorectal(73;0.188) TTTGCTATAGGAAAAAAGGGA 0.423000 269 59 0 0 0.000781405 0 0 APOBEC3D 140564 broad.mit.edu 37 22 39425373 39425373 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:39425373C>T uc003awt.4 + 4 1018 c.611C>T c.(610-612)cCg>cTg p.P204L APOBEC3D_uc010gxu.3_5'UTR|APOBEC3D_uc003awu.4_Intron NM_152426 NP_689639 Q96AK3 ABC3D_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (APOBEC3D), mRNA. 204 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2) 11 Melanoma(58;0.04) CTCAGAAACCCGATGGAGGCA 0.522000 105 79 0 0 0.000781405 0 0 GCET2 257144 broad.mit.edu 37 3 111842472 111842472 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:111842472C>T uc021xcl.1 - 5 558 c.373G>A c.(373-375)Gga>Aga p.G125R C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dys.2_Missense_Mutation_p.G123R|GCET2_uc021xcm.1_Missense_Mutation_p.G108R NM_001190259 NP_001177188 Q8N6F7 GCET2_HUMAN Homo sapiens germinal center expressed transcript 2 (GCET2), transcript variant 3, mRNA. 123 mitochondrion endometrium(3)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 8 GTCTCAGTTCCTCCCAAGGAC 0.483000 55 29 0 0 0.00178596 0 0 SLC25A51P1 442229 broad.mit.edu 37 6 66498502 66498502 + RNA SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:66498502C>T uc011dxw.2 + 0 c.731C>T Homo sapiens mitochondrial carrier triple repeat 3 pseudogene (MCART3P), non-coding RNA. CATCAAAACCCGGGATGCAAT 0.463000 24 18 0 0 0.00074312 0 0 SPTA1 6708 broad.mit.edu 37 1 158648241 158648241 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:158648241G>A uc001fst.1 - 5 961 c.762C>T c.(760-762)ctC>ctT p.L254L NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 254 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCTGTCTCTGGAGAGCCAAAC 0.428000 17 24 0 0 0.000878237 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110497314 110497314 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:110497314C>T uc003yne.3 + 57 9722 c.9618C>T c.(9616-9618)ttC>ttT p.F3206F NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 3206 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GCTACGATTTCCACCAGACAG 0.323000 HNSCC(38;0.096) 23 9 0 0 0.000442599 0 0 TTC25 83538 broad.mit.edu 37 17 40093094 40093094 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:40093094C>T uc002hyj.4 + 4 628 c.539C>T c.(538-540)tCg>tTg p.S180L TTC25_uc021txp.1_Missense_Mutation_p.S180L NM_031421 NP_113609 Q96NG3 TTC25_HUMAN Homo sapiens tetratricopeptide repeat domain 25 (TTC25), mRNA. 180 cytoplasm protein binding endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) TGGAAGGCCTCGCTCAAGAGT 0.512000 81 31 0 0 0.00283554 0 0 CYP2C9 1559 broad.mit.edu 37 10 96698552 96698552 + Missense_Mutation SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:96698552T>C uc001kka.4 + 0 138 c.113T>C c.(112-114)gTg>gCg p.V38A CYP2C9_uc009xut.3_Missense_Mutation_p.V38A|CYP2C9_uc001kjz.3_Missense_Mutation_p.V38A NM_000771 NP_000762 P11712 CP2C9_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA. 38 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) CCTCTCCCAGTGATTGGAAAT 0.463000 27 26 0 0 0.000878237 0 0 PEAR1 375033 broad.mit.edu 37 1 156883701 156883701 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:156883701C>T uc001fqj.1 + 21 2887 c.2771C>T c.(2770-2772)cCa>cTa p.P924L PEAR1_uc001fqk.1_Missense_Mutation_p.P549L NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA. 924 Pro-rich. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AGTGAGAACCCATATGCCACC 0.622000 43 9 0 0 0.000442599 0 0 BAAT 570 broad.mit.edu 37 9 104133253 104133253 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:104133253C>T uc010mtd.3 - 1 543 c.434G>A c.(433-435)gGc>gAc p.G145D BAAT_uc004bbd.4_Missense_Mutation_p.G145D NM_001127610 NP_001692 Q14032 BAAT_HUMAN Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA. 145 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) TCGAAGGCGGCCTTCTCGAAC 0.438000 92 16 0 0 0.000308642 0 0 MNF1 84300 broad.mit.edu 37 6 33669180 33669180 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:33669180G>A uc003ofa.1 - 1 197 c.156C>T c.(154-156)gcC>gcT p.A52A MNF1_uc003oez.1_5'Flank|MNF1_uc010jve.1_Non-coding_Transcript NM_032340 NP_115716 Q9BRT2 CF125_HUMAN Homo sapiens chromosome 6 open reading frame 125 (C6orf125), mRNA. 52 TCTGATCACAGGCCTCAGGCT 0.493000 51 45 0 0 0.000781405 0 0 CDYL2 124359 broad.mit.edu 37 16 80667001 80667001 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:80667001C>T uc002ffs.3 - 2 854 c.749G>A c.(748-750)cGa>cAa p.R250Q NM_152342 NP_689555 Q8N8U2 CDYL2_HUMAN Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA. 250 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 AACGATGTCTCGAAACCGACA 0.537000 74 22 0 0 0.000586117 0 0 ROR2 4920 broad.mit.edu 37 9 94486368 94486368 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:94486368G>A uc004arj.2 - 8 2607 c.2408C>T c.(2407-2409)cCc>cTc p.P803L ROR2_uc004ari.1_Intron NM_004560 NP_004551 Q01974 ROR2_HUMAN Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA. 803 Pro-rich. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GCCCTTCATGGGGATGAACTG 0.672000 36 48 0 0 0.000781405 0 0 PDE7B 27115 broad.mit.edu 37 6 136508200 136508200 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:136508200G>A uc003qgp.3 + 11 1375 c.1072G>A c.(1072-1074)Gaa>Aaa p.E358K AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Missense_Mutation_p.E410K NM_018945 NP_061818 Q9NP56 PDE7B_HUMAN Homo sapiens phosphodiesterase 7B (PDE7B), mRNA. 358 Catalytic (By similarity). signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding p.E358Q(2) breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) ATTTGAACTGGAAATCAGTCC 0.289000 37 23 0 0 0.000586117 0 0 KLRF1 51348 broad.mit.edu 37 12 9997066 9997066 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:9997066G>A uc021qux.1 + 5 704 c.640G>A c.(640-642)Gaa>Aaa p.E214K KLRF1_uc001qwm.3_Non-coding_Transcript|KLRF1_uc009zgy.3_Non-coding_Transcript|KLRF1_uc009zgz.3_3'UTR|KLRF1_uc009zha.3_Non-coding_Transcript|KLRF1_uc009zgw.3_Missense_Mutation_p.E164K|KLRF1_uc009zgx.3_Non-coding_Transcript NM_016523 NP_057607 Q9NZS2 KLRF1_HUMAN Homo sapiens killer cell lectin-like receptor subfamily F, member 1 (KLRF1), mRNA. 214 C-type lectin. cell surface receptor linked signaling pathway integral to plasma membrane MHC class I receptor activity|sugar binding breast(1)|endometrium(2)|large_intestine(4)|lung(6) 13 TGCCATTAAGGAAAGCAAAAT 0.353000 2 11 0 0 0.00185496 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41033178 41033178 + Missense_Mutation SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:41033178A>T uc003jmj.4 - 22 2816 c.2326T>A c.(2326-2328)Ttt>Att p.F776I HEATR7B2_uc003jmi.4_Missense_Mutation_p.F331I NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 776 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 TTGTAGGAAAACTGGAACCCC 0.453000 8 15 0 0 0.00121646 0 0 NNT 23530 broad.mit.edu 37 5 43651924 43651924 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:43651924C>T uc003joe.3 + 12 2056 c.1801C>T c.(1801-1803)Cct>Tct p.P601S NNT_uc003jof.3_Missense_Mutation_p.P601S NM_012343 NP_892022 Q13423 NNTM_HUMAN Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 601 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) GTACCTGCTCCCTGCCGGCAC 0.453000 82 36 0 0 0.00111076 0 0 SLC24A2 25769 broad.mit.edu 37 9 19520939 19520939 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:19520939C>T uc003zoa.2 - 8 1842 c.1689G>A c.(1687-1689)atG>atA p.M563I SLC24A2_uc003zob.2_Missense_Mutation_p.M546I NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA. 563 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) TGGACACAGCCATGTCCCCTA 0.512000 2 10 0 0 0.000673444 0 0 BDKRB2 624 broad.mit.edu 37 14 96707157 96707157 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:96707157C>T uc010avm.1 + 2 688 c.492C>T c.(490-492)tcC>tcT p.S164S BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Silent_p.S137S|BDKRB2_uc001yfg.2_Silent_p.S164S NM_000623 NP_000614 P30411 BKRB2_HUMAN Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA. 164 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) AAACCATGTCCATGGGCCGGA 0.592000 115 36 0 0 0.000953801 0 0 MYOM2 9172 broad.mit.edu 37 8 2056620 2056620 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:2056620C>T uc003wpx.4 + 24 3181 c.3043_splice c.e24+1 p.T1015_splice MYOM2_uc011kwi.2_Splice_Site_p.T440_splice NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 1015 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TAAAGAACCCCAGTAAGTAAG 0.468000 48 53 0 0 0.000781405 0 0 GALNT8 26290 broad.mit.edu 37 12 4855377 4855377 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:4855377G>A uc001qne.1 + 5 1218 c.1126G>A c.(1126-1128)Ggt>Agt p.G376S NM_017417 NP_059113 Q9NY28 GALT8_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA. 376 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 GTCTCTGGATGGTGGAATGCT 0.493000 48 23 0 0 0.00229938 0 0 CHST11 50515 broad.mit.edu 37 12 105150977 105150977 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:105150977C>T uc001tkz.3 + 2 953 c.455C>T c.(454-456)gCc>gTc p.A152V CHST11_uc001tky.3_Missense_Mutation_p.A147V NM_018413 NP_060883 Q9NPF2 CHSTB_HUMAN Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 11 (CHST11), transcript variant 1, mRNA. 152 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity p.P151S(1) breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1) 18 GAGATCCCGGCCAACGAGGCA 0.572000 48 10 0 0 0.000978159 0 0 ALMS1 7840 broad.mit.edu 37 2 73677368 73677368 + Silent SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:73677368T>C uc002sje.1 + 7 3822 c.3711T>C c.(3709-3711)tcT>tcC p.S1237S ALMS1_uc002sjf.1_Silent_p.S1195S|ALMS1_uc002sjg.3_Silent_p.S625S|ALMS1_uc002sjh.1_Silent_p.S625S NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA. 1237 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 CCTCTGCTTCTTACTCACACA 0.478000 41 34 0 0 0.00209593 0 0 SPEF2 79925 broad.mit.edu 37 5 35740050 35740050 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:35740050G>A uc003jjo.3 + 21 3204 c.3093G>A c.(3091-3093)tgG>tgA p.W1031* SPEF2_uc003jjp.1_Nonsense_Mutation_p.W517* NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 1031 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TACCTTACTGGGAACTAATAG 0.338000 31 16 0 0 0.000422831 0 0 SYNJ2 8871 broad.mit.edu 37 6 158517304 158517304 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:158517304C>T uc003qqx.2 + 26 4505 c.4399C>T c.(4399-4401)Cat>Tat p.H1467Y SYNJ2_uc003qqy.2_Missense_Mutation_p.H1230Y|SYNJ2_uc003qqz.2_Missense_Mutation_p.H1084Y|SYNJ2_uc003qra.2_Missense_Mutation_p.H810Y NM_003898 NP_001171559 O15056 SYNJ2_HUMAN Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA. 1467 RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) GCCACCAGATCATGAACACAA 0.527000 18 17 0 0 0.000958276 0 0 LRIG1 26018 broad.mit.edu 37 3 66457825 66457825 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:66457825G>A uc003dmx.3 - 7 1040 c.1026C>T c.(1024-1026)tcC>tcT p.S342S LRIG1_uc011bfu.2_5'Flank|LRIG1_uc003dmw.3_5'Flank|LRIG1_uc010hnz.3_Silent_p.S82S|LRIG1_uc010hoa.3_Silent_p.S342S NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA. 342 integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TGTGGCTGATGGAATTGTGGC 0.592000 34 12 0 0 0.00244969 0 0 MYOM1 8736 broad.mit.edu 37 18 3131480 3131480 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:3131480C>T uc002klp.3 - 16 2733 c.2399G>A c.(2398-2400)gGa>gAa p.G800E MYOM1_uc002klq.3_Missense_Mutation_p.G800E NM_003803 NP_003794 P52179 MYOM1_HUMAN Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA. 800 Fibronectin type-III 3. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AGTCACTAATCCATGACAAGT 0.378000 37 22 0 0 0.000586117 0 0 TAGAP 117289 broad.mit.edu 37 6 159459245 159459245 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:159459245C>T uc003qrz.3 - 8 1131 c.799G>A c.(799-801)Gaa>Aaa p.E267K TAGAP_uc011eft.2_Missense_Mutation_p.E204K|TAGAP_uc003qsa.3_Missense_Mutation_p.E89K NM_054114 NP_687034 Q8N103 TAGAP_HUMAN Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA. 267 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) ATGAGGAATTCCACCAGTGTC 0.403000 29 26 0 0 0.000878237 0 0 MIR1283-2 100302205 broad.mit.edu 37 19 54261508 54261508 + RNA SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:54261508G>A uc021vax.1 + 0 c.23G>A Homo sapiens microRNA 1283-2 (MIR1283-2), microRNA. GTCTACAAAGGAAAGCGCTTT 0.408000 121 31 0 0 0.00058488 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71478832 71478832 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:71478832G>A uc004agu.3 + 4 454 c.149G>A c.(148-150)cGa>cAa p.R50Q PIP5K1B_uc011lrq.2_Missense_Mutation_p.R50Q|PIP5K1B_uc004agv.3_Non-coding_Transcript NM_003558 NP_003549 O14986 PI51B_HUMAN Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA. 50 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) AAGCCAGAACGAGATGTTCTT 0.403000 82 33 0 0 0.000692331 0 0 ATP1A2 477 broad.mit.edu 37 1 160105280 160105280 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:160105280G>A uc001fvc.3 + 15 2304 c.2172G>A c.(2170-2172)aaG>aaA p.K724K ATP1A2_uc001fvb.2_Silent_p.K724K|ATP1A2_uc001fvd.3_Silent_p.K460K NM_000702 NP_000693 P50993 AT1A2_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA. 724 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CATTGAAGAAGGCTGACATTG 0.582000 96 17 0 0 0.000958276 0 0 DSC2 1824 broad.mit.edu 37 18 28671000 28671000 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:28671000G>A uc002kwl.4 - 3 919 c.465C>T c.(463-465)ttC>ttT p.F155F DSC2_uc002kwk.4_Silent_p.F155F NM_024422 NP_077740 Q02487 DSC2_HUMAN Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA. 155 Cadherin 1. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) CCTGTTGAAGGAAAAGTGGAA 0.398000 26 10 0 0 0.000442599 0 0 ANGPTL4 51129 broad.mit.edu 37 19 8431165 8431165 + Missense_Mutation SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:8431165A>T uc002mjq.1 + 2 704 c.509A>T c.(508-510)cAg>cTg p.Q170L ANGPTL4_uc002mjr.1_Missense_Mutation_p.Q170L|ANGPTL4_uc010xkc.1_Missense_Mutation_p.Q3L NM_139314 NP_647475 Q9BY76 ANGL4_HUMAN Homo sapiens angiopoietin-like 4 (ANGPTL4), transcript variant 1, mRNA. 170 angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis extracellular space|proteinaceous extracellular matrix enzyme inhibitor activity|receptor binding large_intestine(1)|lung(1)|ovary(2)|skin(2) 6 GAGATGGCCCAGCCAGTTGAC 0.642000 26 30 0 0 0.00178596 0 0 SP140L 93349 broad.mit.edu 37 2 231249953 231249953 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:231249953G>A uc010fxm.1 + 8 809 c.718G>A c.(718-720)Gat>Aat p.D240N SP140L_uc010fxo.1_Missense_Mutation_p.D47N NM_138402 NP_612411 Q9H930 LY10L_HUMAN Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA. 240 nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 CAGCAAAGCCGATGGCCAGCT 0.468000 52 19 0 0 0.00047179 0 0 PRDM9 56979 broad.mit.edu 37 5 23527808 23527808 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:23527808G>A uc003jgo.3 + 10 2793 c.2611G>A c.(2611-2613)Gat>Aat p.D871N NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN Homo sapiens PR domain containing 9 (PRDM9), mRNA. 871 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GGGCTTTAGCGATAGGTCAAG 0.547000 HNSCC(3;0.000094) 46 19 0 0 0.000958276 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58189571 58189571 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:58189571G>A uc002qpu.3 + 4 1297 c.600G>A c.(598-600)tcG>tcA p.S200S NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA. 200 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACAGTTCTTCGAAAACTACTC 0.403000 36 20 0 0 0.00152264 0 0 LRP2 4036 broad.mit.edu 37 2 170050321 170050321 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:170050321C>T uc002ues.3 - 46 8993 c.8780G>A c.(8779-8781)gGt>gAt p.G2927D NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 2927 LDL-receptor class A 21. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GTCATTATCACCGTCACAGAT 0.473000 107 25 0 0 0.00278032 0 0 DDX24 57062 broad.mit.edu 37 14 94545680 94545680 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:94545680G>A uc001ycj.3 - 1 508 c.409C>T c.(409-411)Ccg>Tcg p.P137S DDX24_uc010twq.2_Missense_Mutation_p.P94S|DDX24_uc010twr.2_Intron|IFI27L1_uc001ycl.3_5'Flank|IFI27L1_uc001yck.3_5'Flank NM_020414 NP_065147 Q9GZR7 DDX24_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA. 137 RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CCAGCCTCCGGATCATCACAA 0.453000 103 31 0 0 0.00178596 0 0 MUC16 94025 broad.mit.edu 37 19 9067341 9067341 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9067341G>A uc002mkp.3 - 2 20309 c.20105C>T c.(20104-20106)cCa>cTa p.P6702L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6704 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 ATCAGGGCCTGGAATGGATGT 0.478000 154 37 0 0 0.00111076 0 0 KCNK10 54207 broad.mit.edu 37 14 88652317 88652317 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:88652317G>A uc001xwm.3 - 6 1316 c.1194C>T c.(1192-1194)tcC>tcT p.S398S KCNK10_uc001xwn.3_Silent_p.S398S|KCNK10_uc001xwo.3_Silent_p.S393S NM_138318 NP_612191 P57789 KCNKA_HUMAN Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA. 393 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 GCTTCTCGGGGGACAGCATGT 0.662000 74 24 0 0 0.000720815 0 0 ACVR2A 92 broad.mit.edu 37 2 148654035 148654035 + Missense_Mutation SNP T G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:148654035T>G uc002twg.3 + 2 490 c.221T>G c.(220-222)gTg>gGg p.V74G ACVR2A_uc010zbn.2_5'UTR|ACVR2A_uc002twh.3_Missense_Mutation_p.V74G NM_001616 NP_001607 P27037 AVR2A_HUMAN Homo sapiens activin A receptor, type IIA (ACVR2A), mRNA. 74 BMP signaling pathway|activin receptor signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity p.V74V(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) ATTGAAATAGTGAAACAAGGT 0.378000 61 14 0 0 0.000422831 0 0 POTEG 404785 broad.mit.edu 37 14 19553578 19553578 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:19553578G>A uc001vuz.1 + 0 214 c.162G>A c.(160-162)atG>atA p.M54I POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA. 54 p.M54I(2) cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 ATTCTGCTATGAAGACACTCA 0.617000 431 18 0 0 0.000692331 0 0 NT5E 4907 broad.mit.edu 37 6 86181079 86181079 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:86181079C>T uc003pko.4 + 2 1243 c.687C>T c.(685-687)atC>atT p.I229I NT5E_uc003pkn.3_Silent_p.I229I|NT5E_uc010kbr.3_Silent_p.I229I NM_002526 NP_002517 P21589 5NTD_HUMAN Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA. 229 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding p.I229I(2)|p.L228L(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) ATAAACTCATCGCTCAGAAAG 0.408000 39 15 0 0 0.00121646 0 0 NUCKS1 64710 broad.mit.edu 37 1 205687564 205687565 + Missense_Mutation DNP GG TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:205687564_205687565GG>TT uc001hdb.3 - 6 846_847 c.575_576CC>AA c.(574-576)ccc>cAA p.P192Q NM_022731 NP_073568 Q9H1E3 NUCKS_HUMAN Homo sapiens nuclear casein kinase and cyclin-dependent kinase substrate 1 (NUCKS1), mRNA. 192 Lys-rich. nucleus endometrium(4)|large_intestine(1)|lung(9) 14 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) TTGAAGCTGTGGGGCGACCCAC 0.441000 300 9 0 0 6.4e-05 0 0 GLI3 2737 broad.mit.edu 37 7 42004030 42004030 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:42004030G>A uc011kbh.2 - 14 4732 c.4641C>T c.(4639-4641)ttC>ttT p.F1547F GLI3_uc011kbg.2_Silent_p.F1488F NM_000168 NP_000159 P10071 GLI3_HUMAN Homo sapiens GLI family zinc finger 3 (GLI3), mRNA. 1547 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 ACAGCGCTGGGAATGGGAGGG 0.567000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 60 9 0 0 0.000673444 0 0 KRT82 3888 broad.mit.edu 37 12 52794341 52794341 + Missense_Mutation SNP C G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:52794341C>G uc001sai.1 - 3 862 c.747G>C c.(745-747)gaG>gaC p.E249D NM_033033 NP_149022 Q9NSB4 KRT82_HUMAN Homo sapiens keratin 82 (KRT82), mRNA. 249 Coil 1B.|Rod. keratin filament protein binding|structural constituent of epidermis endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) GGAAGTCGATCTCCTGCACGA 0.592000 60 18 0 0 0.00188189 0 0 DNAH9 1770 broad.mit.edu 37 17 11726309 11726309 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:11726309G>A uc002gne.3 + 47 9272 c.9204G>A c.(9202-9204)cgG>cgA p.R3068R DNAH9_uc010coo.3_Silent_p.R2362R NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 3068 Stalk (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGACAGAGCGGTTGGAGAACG 0.552000 0 21 0 0 0.00152264 0 0 GCA 25801 broad.mit.edu 37 2 163204218 163204219 + Missense_Mutation DNP CC TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:163204218_163204219CC>TT uc002ucg.3 + 1 334_335 c.158_159CC>TT c.(157-159)tcc>tTT p.S53F NM_012198 NP_036330 P28676 GRAN_HUMAN Homo sapiens grancalcin, EF-hand calcium binding protein (GCA), mRNA. 53 EF-hand 1. cellular membrane fusion cytoplasm|plasma membrane calcium ion binding|protein homodimerization activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1) 9 GCTGGTGACTCCGTGTATACTT 0.421000 38 13 0 0 6.4e-05 0 0 ANKS6 203286 broad.mit.edu 37 9 101530400 101530400 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:101530400G>A uc004ayu.3 - 10 2126 c.2105C>T c.(2104-2106)cCa>cTa p.P702L ANKS6_uc004ayv.2_Missense_Mutation_p.P164L|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Missense_Mutation_p.P401L NM_173551 NP_775822 Q68DC2 ANKS6_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA. 702 Ser-rich. endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21 Acute lymphoblastic leukemia(62;0.0527) AGGGGAGGCTGGAAGCTCAGA 0.587000 16 15 0 0 0.00244969 0 0 ADAM19 8728 broad.mit.edu 37 5 156929909 156929909 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:156929909G>A uc003lwz.3 - 11 1289 c.1210C>T c.(1210-1212)Ctc>Ttc p.L404F ADAM19_uc003lww.2_Missense_Mutation_p.L137F|ADAM19_uc003lwy.3_Missense_Mutation_p.L3F|ADAM19_uc011ddr.1_Missense_Mutation_p.L335F NM_033274 NP_150377 Q9H013 ADA19_HUMAN Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA. 404 Peptidase M12B. proteolysis integral to membrane SH3 domain binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATGTTGGAGAGACACATTCCA 0.547000 55 26 0 0 0.000878237 0 0 DMBT1 1755 broad.mit.edu 37 10 124358479 124358479 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:124358479G>A uc001lgk.1 + 25 3252 c.3146G>A c.(3145-3147)gGt>gAt p.G1049D DMBT1_uc001lgl.1_Missense_Mutation_p.G1039D|DMBT1_uc001lgm.1_Missense_Mutation_p.G550D|DMBT1_uc021qaf.1_Missense_Mutation_p.G1049D|DMBT1_uc021qag.1_Missense_Mutation_p.G1039D|DMBT1_uc021qah.1_Missense_Mutation_p.G550D|DMBT1_uc009xzz.1_Missense_Mutation_p.G1049D|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.G10D NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 1049 SRCR 8. 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) GCCCGGTTTGGTCAGGGCTCA 0.597000 104 98 0 0 0.000781405 0 0 abParts 0 broad.mit.edu 37 22 22749647 22749647 + RNA SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:22749647C>T uc021wml.1 + 56 c.6331C>T Parts of antibodies, mostly variable regions. CAAACTGGTTCCAGCAGAAAC 0.567000 38 9 0 0 0.000274275 0 0 TIGD4 201798 broad.mit.edu 37 4 153690662 153690662 + Missense_Mutation SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:153690662A>T uc003imy.3 - 1 2316 c.1495T>A c.(1495-1497)Tta>Ata p.L499I TIGD4_uc021xtf.1_Missense_Mutation_p.L499I NM_145720 NP_663772 Q8IY51 TIGD4_HUMAN Homo sapiens tigger transposable element derived 4 (TIGD4), mRNA. 499 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding|chromatin binding breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.093) AGGTCTGCTAAAGAATTTTGA 0.294000 35 14 0 0 0.00244969 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140216247 140216247 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140216247C>T uc003lhq.2 + 0 2279 c.2279C>T c.(2278-2280)tCt>tTt p.S760F PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.S760F NM_018910 NP_061733 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA. 797 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGGTGTGCTCTGGGGAGGGC 0.572000 22 13 0 0 0.00136819 0 0 ACTC1 70 broad.mit.edu 37 15 35083467 35083467 + Missense_Mutation SNP T G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:35083467T>G uc001ziu.1 - 5 1081 c.838A>C c.(838-840)Act>Cct p.T280P AK092087_uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA. 280 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly I band|actomyosin, actin part|cytosol ATP binding|ATPase activity|myosin binding p.T279T(1) central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) CTATTGTAAGTTGTTTCATGG 0.463000 54 41 0 0 0.00148497 0 0 CD1D 912 broad.mit.edu 37 1 158152903 158152903 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:158152903G>A uc001frr.3 + 4 1342 c.843G>A c.(841-843)gtG>gtA p.V281V CD1D_uc009wss.3_Intron NM_001766 NP_001757 P15813 CD1D_HUMAN Homo sapiens CD1d molecule (CD1D), mRNA. 281 Ig-like. T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) CCTGTCGGGTGAAGCACAGCA 0.602000 74 22 0 0 0.000720815 0 0 SLC47A1 55244 broad.mit.edu 37 17 19451411 19451411 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:19451411C>T uc002gvx.3 + 3 506 c.420C>T c.(418-420)atC>atT p.I140I SLC47A1_uc010vyy.1_Non-coding_Transcript|SLC47A1_uc002gvy.1_Silent_p.I140I|SLC47A1_uc010vyz.1_Silent_p.I117I|SLC47A1_uc010cqp.1_Silent_p.I140I|SLC47A1_uc010cqq.1_5'UTR NM_018242 NP_060712 Q96FL8 S47A1_HUMAN Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA. 140 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) CCCAGCACATCCTGCTGCTCT 0.597000 9 14 0 0 0.000308642 0 0 CRB1 23418 broad.mit.edu 37 1 197297974 197297974 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:197297974G>A uc001gtz.3 + 1 702 c.493G>A c.(493-495)Gat>Aat p.D165N CRB1_uc010poz.2_Missense_Mutation_p.D96N|CRB1_uc001gty.2_Missense_Mutation_p.D165N|CRB1_uc009wza.3_Missense_Mutation_p.D165N|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.D165N NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 165 EGF-like 4; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CGTGTGCCAGGATGGAATTGA 0.512000 36 6 0 0 0.00116845 0 0 MYO1H 283446 broad.mit.edu 37 12 109834264 109834264 + Silent SNP G A A rs142805645 by1000genomes TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:109834264G>A uc010sxn.1 + 2 318 c.318G>A c.(316-318)gaG>gaA p.E106E NM_001101421 NP_001094891 B4DNW6 B4DNW6_HUMAN Homo sapiens myosin IH (MYO1H), mRNA. 0 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 TTTCTGGAGAGAGTGGGGCAG 0.488000 28 14 0 0 0.000308642 0 0 FAM21B 55747 broad.mit.edu 37 10 47915888 47915888 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:47915888C>T uc009xni.3 + 14 1295 c.1295C>T c.(1294-1296)tCt>tTt p.S432F FAM21B_uc001jep.4_Missense_Mutation_p.S327F NM_018232 NP_060702 Q5SNT6 FA21B_HUMAN Homo sapiens family with sequence similarity 21, member B (FAM21B), mRNA. 432 retrograde transport, endosome to Golgi WASH complex|early endosome membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 GTTACCTTATCTTCCAGCAAA 0.408000 74 22 0 0 0.00178596 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43939406 43939406 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:43939406C>T uc010yny.2 + 14 2427 c.2344C>T c.(2344-2346)Ccc>Tcc p.P782S PLEKHH2_uc002rte.3_3'UTR|PLEKHH2_uc002rtf.3_Missense_Mutation_p.P781S NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA. 782 PH 1. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TGCAGATTCTCCCAATATATT 0.418000 429 107 0 0 0.000781405 0 0 MYO5C 55930 broad.mit.edu 37 15 52531999 52531999 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:52531999G>A uc010bff.3 - 20 2796 c.2634C>T c.(2632-2634)atC>atT p.I878I MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Intron NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN Homo sapiens myosin VC (MYO5C), mRNA. 878 IQ 5. myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) CGAATCGTCGGATACTCTGGA 0.438000 25 21 0 0 0.00152264 0 0 SLC4A10 57282 broad.mit.edu 37 2 162719394 162719394 + Silent SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:162719394T>A uc002ubx.4 + 5 772 c.588T>A c.(586-588)ctT>ctA p.L196L SLC4A10_uc010fpa.1_Silent_p.L208L|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Silent_p.L207L|SLC4A10_uc002uby.4_Silent_p.L196L NM_001178015 NP_001171486 Q6U841 S4A10_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA. 196 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity 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 ATATGGTTCTTGACCAACAAG 0.458000 14 8 0 0 0.000442599 0 0 CPAMD8 27151 broad.mit.edu 37 19 17091442 17091442 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:17091442G>A uc002nfb.3 - 13 1623 c.1591C>T c.(1591-1593)Ctg>Ttg p.L531L NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 484 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 TCGTAGTACAGGGTAAAGTTG 0.592000 55 45 0 0 0.000781405 0 0 SLIT3 6586 broad.mit.edu 37 5 168199797 168199797 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:168199797A>G uc010jjg.3 - 13 1868 c.1448T>C c.(1447-1449)tTc>tCc p.F483S SLIT3_uc003mab.3_Missense_Mutation_p.F483S|SLIT3_uc010jji.2_Missense_Mutation_p.F483S|SLIT3_uc003mac.1_Missense_Mutation_p.F280S NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 483 LRRCT 2. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGAGCAGCGGAACTTCTTGCT 0.607000 37 14 0 0 0.000566183 0 0 SPTBN1 6711 broad.mit.edu 37 2 54845318 54845318 + Silent SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:54845318T>C uc002rxu.3 + 6 1000 c.751T>C c.(751-753)Ttg>Ctg p.L251L SPTBN1_uc002rxv.1_Silent_p.L251L|SPTBN1_uc002rxx.3_Silent_p.L238L NM_003128 NP_003119 Q01082 SPTB2_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA. 251 Actin-binding.|CH 2. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) CACTAAACTGTTGGACCCCGA 0.428000 41 17 0 0 0.000958276 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137564 40137564 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:40137564C>T uc021qgf.1 - 0 279 c.279G>A c.(277-279)gtG>gtA p.V93V LRRC4C_uc001mxc.1_Silent_p.V89V|LRRC4C_uc001mxd.1_Silent_p.V89V|LRRC4C_uc001mxa.1_Silent_p.V93V|LRRC4C_uc001mxb.1_Silent_p.V89V NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA. 93 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TGAAGCTGTTCACTTTGATGA 0.468000 35 30 0 0 0.00283554 0 0 PTGS1 5742 broad.mit.edu 37 9 125140279 125140280 + Missense_Mutation DNP CC TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:125140279_125140280CC>TT uc004bmg.1 + 2 331_332 c.196_197CC>TT c.(196-198)ccc>TTc p.P66F PTGS1_uc011lys.1_Missense_Mutation_p.P41F|PTGS1_uc010mwb.1_5'UTR|PTGS1_uc004bmf.1_Missense_Mutation_p.P66F|PTGS1_uc004bmh.1_5'UTR|PTGS1_uc011lyt.1_5'UTR NM_000962 NP_000953 P23219 PGH1_HUMAN Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA. 66 EGF-like. cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154) CTATTCCGGCCCCAACTGCACC 0.609000 66 14 0 0 6.4e-05 0 0 DNAH5 1767 broad.mit.edu 37 5 13845071 13845071 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:13845071G>A uc003jfd.2 - 31 5188 c.5146C>T c.(5146-5148)Cgg>Tgg p.R1716W NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1716 Stem (By similarity). R -> L (in CILD3). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R1716L(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AAGAAAAACCGAGGAAAGCAC 0.443000 Kartagener syndrome 25 17 0 0 0.000566183 0 0 C5orf25 375484 broad.mit.edu 37 5 177054540 177054540 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:177054540G>A uc011dgc.2 - 1 333 c.205C>T c.(205-207)Ccc>Tcc p.P69S C5orf25_uc011dgb.1_Non-coding_Transcript NM_198567 NP_940969 Q8NDZ2 CE025_HUMAN Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA. 484 all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.119) GTCCCCAGGGGAAAATTCTCT 0.418000 33 48 0 0 0.000781405 0 0 ABCC8 6833 broad.mit.edu 37 11 17452451 17452451 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:17452451G>A uc001mnc.3 - 11 1853 c.1727C>T c.(1726-1728)gCc>gTc p.A576V ABCC8_uc010rcy.1_Missense_Mutation_p.A575V NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 576 ABC transmembrane type-1 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GGAGGCAAAGGCCACGGAGGG 0.597000 187 149 0 0 0.000781405 0 0 WDR69 164781 broad.mit.edu 37 2 228758545 228758545 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:228758545C>T uc002vpn.1 + 4 431 c.352C>T c.(352-354)Ctc>Ttc p.L118F WDR69_uc010zlw.1_Missense_Mutation_p.L103F|WDR69_uc002vpo.1_Non-coding_Transcript NM_178821 NP_849143 Q8N136 WDR69_HUMAN Homo sapiens WD repeat domain 69 (WDR69), mRNA. 118 breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148) GACGTGCAAGCTCTGGGACAC 0.468000 60 12 0 0 0.00244969 0 0 CACNA1B 774 broad.mit.edu 37 9 141010018 141010018 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:141010018C>T uc004cog.3 + 40 5803 c.5658C>T c.(5656-5658)tcC>tcT p.S1886S CACNA1B_uc022bqn.1_Silent_p.S1886S|CACNA1B_uc004coi.3_Silent_p.S1100S NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 1888 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GTCCTGTGTCCCTGTTCCACC 0.602000 84 58 0 0 0.000781405 0 0 RASGRF1 5923 broad.mit.edu 37 15 79324609 79324609 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:79324609G>A uc002beq.3 - 6 1383 c.1008C>T c.(1006-1008)ttC>ttT p.F336F RASGRF1_uc002bep.3_Silent_p.F336F|RASGRF1_uc010blm.1_Silent_p.F258F|RASGRF1_uc002ber.4_Silent_p.F336F NM_002891 NP_002882 Q13972 RGRF1_HUMAN Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA. 336 DH. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GGTTGCGGACGAACTCTTGGT 0.587000 28 18 0 0 0.00188189 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209190707 209190707 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:209190707C>T uc002vcz.3 + 19 3330 c.3172C>T c.(3172-3174)Cca>Tca p.P1058S PIKFYVE_uc010fun.1_Missense_Mutation_p.P739S|PIKFYVE_uc002vcy.1_Missense_Mutation_p.P1002S NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA. 1058 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 CTGTATCTCCCCAGTAATCAC 0.408000 54 42 0 0 0.00222228 0 0 BRMS1L 84312 broad.mit.edu 37 14 36300622 36300622 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:36300622A>G uc001wtl.3 + 1 275 c.149A>G c.(148-150)gAt>gGt p.D50G BRMS1L_uc010tpx.1_Missense_Mutation_p.D2G NM_032352 NP_115728 Q5PSV4 BRM1L_HUMAN Homo sapiens breast cancer metastasis-suppressor 1-like (BRMS1L), mRNA. 50 regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.M49I(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Breast(36;0.137)|Hepatocellular(127;0.158) Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158) GBM - Glioblastoma multiforme(112;0.0333) ACAGAAATGGATGATGAAGAC 0.284000 57 21 0 0 0.00188189 0 0 MRPS31 10240 broad.mit.edu 37 13 41345346 41345346 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:41345346C>T uc001uxm.4 - 1 1 c.-74_splice c.e1-1 NM_005830 NP_005821 Q92665 RT31_HUMAN Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA. 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) CCCGCCCTCTCTTCCGCTTCC 0.637000 1 10 0 0 0.000673444 0 0 FBN3 84467 broad.mit.edu 37 19 8188870 8188870 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:8188870G>A uc002mjf.3 - 21 2771 c.2754C>T c.(2752-2754)ttC>ttT p.F918F NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 918 TB 5. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CCCATCGCAGGAAACATGGTT 0.637000 23 7 0 0 0.00198382 0 0 PLA2G3 50487 broad.mit.edu 37 22 31536039 31536039 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:31536039C>T uc003aka.3 - 0 431 c.302G>A c.(301-303)gGa>gAa p.G101E NM_015715 NP_056530 Q9NZ20 PA2G3_HUMAN Homo sapiens phospholipase A2, group III (PLA2G3), mRNA. 101 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 CAGCTCGGGTCCGGGGGTGTG 0.632000 11 62 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179640734 179640734 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179640734C>T uc021vsy.1 - 27 6082 c.5857G>A c.(5857-5859)Gaa>Aaa p.E1953K TTN_uc021vsz.1_Missense_Mutation_p.E1907K|TTN_uc021vta.1_Missense_Mutation_p.E1907K|TTN_uc021vtb.1_Missense_Mutation_p.E1907K|TTN_uc002unb.2_Missense_Mutation_p.E1953K|AK123298_uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 1953 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) TTTCCTGGTTCATGTACGTGA 0.418000 81 52 0 0 0.000781405 0 0 LOC399753 399753 broad.mit.edu 37 10 49218553 49218553 + Missense_Mutation SNP T C C rs77581903 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:49218553T>C uc001jgd.3 - 7 1745 c.1586A>G c.(1585-1587)cAt>cGt p.H529R DQ588224_uc001jge.1_5'Flank Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA. ATATTTGGAATGGATCCAGCG 0.567000 36 5 0 0 0.000157383 0 0 PXDNL 137902 broad.mit.edu 37 8 52384783 52384783 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:52384783C>T uc003xqu.4 - 7 877 c.776G>A c.(775-777)gGa>gAa p.G259E NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 259 Ig-like C2-type 1. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TTTGGGGTTTCCTTCCGCCCG 0.443000 78 19 0 0 0.00188189 0 0 ACMSD 130013 broad.mit.edu 37 2 135621140 135621140 + Missense_Mutation SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:135621140A>T uc002ttz.3 + 4 492 c.425A>T c.(424-426)cAa>cTa p.Q142L ACMSD_uc002tua.3_Missense_Mutation_p.Q84L NM_138326 NP_612199 Q8TDX5 ACMSD_HUMAN Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA. 142 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding endometrium(3)|large_intestine(4)|lung(6)|skin(1) 14 BRCA - Breast invasive adenocarcinoma(221;0.115) CCCGGGGTCCAAATTGGCACC 0.637000 26 19 0 0 0.00188189 0 0 DSC3 1825 broad.mit.edu 37 18 28602348 28602348 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:28602348G>A uc002kwj.4 - 6 1051 c.896C>T c.(895-897)cCc>cTc p.P299L DSC3_uc002kwi.4_Missense_Mutation_p.P299L NM_001941 NP_001932 Q14574 DSC3_HUMAN Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA. 299 Cadherin 2. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) GCCTGTGCTGGGATGCACAGA 0.493000 63 14 0 0 0.000308642 0 0 LMBR1 64327 broad.mit.edu 37 7 156619310 156619310 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:156619310G>A uc010lqn.3 - 3 523 c.308C>T c.(307-309)tCc>tTc p.S103F LMBR1_uc003wmw.4_Missense_Mutation_p.S103F|LMBR1_uc003wmx.4_5'UTR|LMBR1_uc011kvx.2_Missense_Mutation_p.S82F NM_022458 NP_071903 Q8WVP7 LMBR1_HUMAN Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA. 103 integral to membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 18 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.208) ATGAATCAGGGAGCCATTTAG 0.323000 8 3 0 0 6.4e-05 0 0 THEG 51298 broad.mit.edu 37 19 374006 374006 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:374006C>T uc002lol.3 - 2 480 c.437G>A c.(436-438)gGa>gAa p.G146E THEG_uc002lom.3_Intron NM_016585 NP_057669 Q9P2T0 THEG_HUMAN Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA. 146 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) ACCACAGCGTCCCTTCCTGCG 0.607000 6 13 0 0 0.000308642 0 0 DFNA5 1687 broad.mit.edu 37 7 24749959 24749959 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:24749959C>T uc010kus.1 - 5 834 c.746G>A c.(745-747)aGa>aAa p.R249K DFNA5_uc003sxa.1_Missense_Mutation_p.R249K|DFNA5_uc010kut.1_Missense_Mutation_p.R85K NM_001127453 NP_001120926 O60443 DFNA5_HUMAN Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA. 249 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 AGAGTCAATTCTCTTCTTGTT 0.488000 113 31 0 0 0.00058488 0 0 HLA-C 3107 broad.mit.edu 37 6 31323340 31323340 + Missense_Mutation SNP G A A rs77659523 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:31323340G>A uc003nth.2 - 3 703 c.649C>T c.(649-651)Ccc>Tcc p.P217S HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Missense_Mutation_p.P96S|HLA-C_uc003nti.1_Non-coding_Transcript|HLA-C_uc010jsn.1_Non-coding_Transcript|HLA-C_uc010jso.2_3'UTR|HLA-C_uc021yum.1_3'UTR NM_005514 NP_005505 Q9TNN7 1C05_HUMAN Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA. 217 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway MHC class I protein complex|integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 TCAGAGATGGGGTGGTGGGTC 0.582000 36 33 0 0 0.000953801 0 0 SFTPD 6441 broad.mit.edu 37 10 81701718 81701718 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:81701718C>T uc001kbh.3 - 4 585 c.542G>A c.(541-543)gGg>gAg p.G181E NM_003019 NP_003010 P35247 SFTPD_HUMAN Homo sapiens surfactant protein D (SFTPD), mRNA. 181 Collagen-like. cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1) 17 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) ACCTGCTGCCCCTGTGTTTCC 0.652000 22 17 0 0 0.00188189 0 0 ATP13A1 57130 broad.mit.edu 37 19 19757947 19757947 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:19757947G>A uc002nnh.4 - 21 3124 c.3096C>T c.(3094-3096)tcC>tcT p.S1032S ATP13A1_uc002nne.3_Silent_p.S172S|ATP13A1_uc002nnf.4_Silent_p.S400S|ATP13A1_uc002nng.3_Silent_p.S914S NM_020410 NP_065143 Q9HD20 AT131_HUMAN Homo sapiens ATPase type 13A1 (ATP13A1), mRNA. 1032 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 CCTTGGAACGGGAGATGAAGA 0.612000 62 14 0 0 0.000308642 0 0 UBLCP1 134510 broad.mit.edu 37 5 158699032 158699032 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:158699032C>T uc003lxq.2 + 6 775 c.449_splice c.e6-1 p.D150_splice NM_145049 NP_659486 Q8WVY7 UBCP1_HUMAN Homo sapiens ubiquitin-like domain containing CTD phosphatase 1 (UBLCP1), mRNA. 150 FCP1 homology. nucleus phosphoprotein phosphatase activity endometrium(1)|kidney(3)|large_intestine(4)|ovary(1) 9 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTCTTTTAGACCACAGGTCTT 0.303000 38 15 0 0 0.000308642 0 0 KEL 3792 broad.mit.edu 37 7 142650939 142650939 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:142650939C>T uc003wcb.3 - 8 1239 c.1029G>A c.(1027-1029)ttG>ttA p.L343L NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 343 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) ACATGTTTTTCAAATATTCCA 0.557000 229 57 0 0 0.000781405 0 0 DDX12P 440081 broad.mit.edu 37 12 9580293 9580293 + RNA SNP A G G rs139954536 by1000genomes TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:9580293A>G uc021qut.1 - 4 c.329T>C DDX12P_uc001qvx.4_Non-coding_Transcript Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA. p.M473T(1) CTTCAGCTCCATCCCTGAGAA 0.502000 39 6 0 0 0.00198382 0 0 CHRDL1 91851 broad.mit.edu 37 X 109931860 109931860 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:109931860C>T uc004eou.4 - 8 1299 c.950G>A c.(949-951)gGa>gAa p.G317E CHRDL1_uc004eov.3_Missense_Mutation_p.G311E|CHRDL1_uc004eow.3_Missense_Mutation_p.G316E|CHRDL1_uc010nps.3_Missense_Mutation_p.G316E|CHRDL1_uc011mss.2_Missense_Mutation_p.G237E NM_001143981 NP_001137453 Q9BU40 CRDL1_HUMAN Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA. 310 VWFC 3. BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 GCAGCATTTTCCGTCTATTTT 0.443000 54 48 0 0 0.000781405 0 0 TRIM71 131405 broad.mit.edu 37 3 32933286 32933286 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:32933286C>T uc003cff.3 + 3 2653 c.2590C>T c.(2590-2592)Cga>Tga p.R864* NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN Homo sapiens tripartite motif containing 71 (TRIM71), mRNA. 864 multicellular organismal development cytoplasm zinc ion binding p.R864Q(1) breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TGGCAACAATCGAATCCTCGT 0.517000 70 85 0 0 0.000781405 0 0 HNRNPK 3190 broad.mit.edu 37 9 86586822 86586822 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:86586822G>A uc004ang.4 - 10 1152 c.928C>T c.(928-930)Cct>Tct p.P310S HNRNPK_uc011lsw.2_Missense_Mutation_p.P70S|HNRNPK_uc004and.4_Missense_Mutation_p.P70S|HNRNPK_uc004anf.4_Missense_Mutation_p.P310S|HNRNPK_uc004anh.4_Missense_Mutation_p.P286S|HNRNPK_uc011lsx.2_Missense_Mutation_p.P286S|HNRNPK_uc004anl.4_Missense_Mutation_p.P310S|HNRNPK_uc004anm.4_Missense_Mutation_p.P310S|MIR7-1_uc004ano.1_5'Flank NM_031262 NP_112552 P61978 HNRPK_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein K (HNRNPK), transcript variant 3, mRNA. 310 2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Poly-Pro. interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding|single-stranded DNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1) 19 GGTGGTGGAGGAAGAGGAAGA 0.512000 114 28 0 0 0.00058488 0 0 PGBD5 79605 broad.mit.edu 37 1 230486707 230486707 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:230486707G>A uc010pwb.2 - 2 708 c.684C>T c.(682-684)atC>atT p.I228I NM_024554 NP_078830 Q8N414 PGBD5_HUMAN Homo sapiens piggyBac transposable element derived 5 (PGBD5), mRNA. 228 integral to membrane p.R227C(1) biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1) 33 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) GGCTCACCTGGATGATGAAGC 0.557000 97 28 0 0 0.00106085 0 0 OR4A15 81328 broad.mit.edu 37 11 55136139 55136139 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:55136139G>A uc010rif.2 + 0 780 c.780G>A c.(778-780)ggG>ggA p.G260G NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA. 260 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 GTTTGGAAGGGAAACGAAAAG 0.433000 11 16 0 0 0.000308642 0 0 GRIN2A 2903 broad.mit.edu 37 16 10274210 10274210 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:10274210C>T uc010uym.2 - 2 369 c.59G>A c.(58-60)gGt>gAt p.G20D GRIN2A_uc002czo.4_Missense_Mutation_p.G20D|GRIN2A_uc002czr.4_Missense_Mutation_p.G20D|GRIN2A_uc010buk.3_Missense_Mutation_p.G20D NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 20 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 p.R19C(1) 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) CGGCGCCGGACCGCGCCAGAC 0.652000 31 7 0 0 0.00198382 0 0 CTNND2 1501 broad.mit.edu 37 5 10981885 10981885 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:10981885C>T uc003jfa.1 - 21 3562 c.3417_splice c.e21+1 p.Q1139_splice CTNND2_uc010itt.2_Splice_Site_p.Q1048_splice|CTNND2_uc011cmy.1_Splice_Site_p.Q802_splice|CTNND2_uc011cmz.1_Splice_Site_p.Q706_splice|CTNND2_uc010itu.1_Splice_Site|CTNND2_uc011cmx.1_Splice_Site_p.Q731_splice NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 1139 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding p.Q1139H(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TTTACTTTACCTGGTTGTGTT 0.338000 81 35 0 0 0.00111076 0 0 SIX2 10736 broad.mit.edu 37 2 45235880 45235880 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:45235880C>T uc002ruo.3 - 0 663 c.370G>A c.(370-372)Ggc>Agc p.G124S NM_016932 NP_058628 Q9NPC8 SIX2_HUMAN Homo sapiens SIX homeobox 2 (SIX2), mRNA. 124 nucleus sequence-specific DNA binding transcription factor activity endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 22 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GTCTCCTCGCCGTCCCAGATG 0.657000 48 14 0 0 0.00244969 0 0 ARGFX 503582 broad.mit.edu 37 3 121305037 121305037 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:121305037C>T uc003eef.3 + 4 633 c.538C>T c.(538-540)Cca>Tca p.P180S NM_001012659 NP_001012677 A6NJG6 ARGFX_HUMAN Homo sapiens arginine-fifty homeobox (ARGFX), mRNA. 180 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) CAGCTCCCTTCCATCTCAGCC 0.493000 89 39 0 0 0.0025221 0 0 SPN 6693 broad.mit.edu 37 16 29675288 29675288 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:29675288C>T uc021tgd.1 + 0 239 c.239C>T c.(238-240)tCc>tTc p.S80F BOLA2_uc010bzb.1_Intron|SPN_uc002dtm.3_Missense_Mutation_p.S80F|SPN_uc002dtn.3_Missense_Mutation_p.S80F NM_003123 NP_003114 P16150 LEUK_HUMAN Homo sapiens sialophorin (SPN), transcript variant 2, mRNA. 80 blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process extracellular space|integral to plasma membrane bacterial cell surface binding|transmembrane receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1) 15 CTTTGGACTTCCATTGGTGCC 0.532000 53 61 0 0 0.000781405 0 0 NKD1 85407 broad.mit.edu 37 16 50667569 50667569 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:50667569G>A uc002egg.2 + 9 1514 c.1290G>A c.(1288-1290)gaG>gaA p.E430E NM_033119 NP_149110 Q969G9 NKD1_HUMAN Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA. 430 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) TGGGGCGGGAGCACCTGCGGG 0.667000 6 5 0 0 0.00116845 0 0 ANK3 288 broad.mit.edu 37 10 61941113 61941113 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:61941113C>T uc001jky.3 - 17 2496 c.2158G>A c.(2158-2160)Ggg>Agg p.G720R ANK3_uc010qih.2_Missense_Mutation_p.G703R|ANK3_uc001jkz.4_Missense_Mutation_p.G714R|ANK3_uc001jlb.1_Missense_Mutation_p.G249R|ANK3_uc001jlc.1_Missense_Mutation_p.G381R NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 720 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ACATGAGCCCCTTGGTTTACG 0.498000 71 44 0 0 0.000781405 0 0 SOX4 6659 broad.mit.edu 37 6 21596018 21596018 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:21596018C>T uc003ndi.3 + 0 2047 c.1253C>T c.(1252-1254)tCc>tTc p.S418F NM_003107 NP_003098 Q06945 SOX4_HUMAN Homo sapiens SRY (sex determining region Y)-box 4 (SOX4), mRNA. 418 DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|T cell differentiation|canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development mitochondrion|nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|core promoter sequence-specific DNA binding|protein binding kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 6 Ovarian(93;0.163) all cancers(50;0.0751)|Epithelial(50;0.155) GAGAGCATGTCCCTGGGCAGC 0.617000 40 13 0 0 0.000958276 0 0 RORB 6096 broad.mit.edu 37 9 77275628 77275628 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:77275628G>A uc004aji.3 + 4 815 c.766G>A c.(766-768)Gaa>Aaa p.E256K RORB_uc004ajh.3_Missense_Mutation_p.E245K NM_006914 NP_008845 Q92753 RORB_HUMAN Homo sapiens RAR-related orphan receptor B (RORB), mRNA. 256 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 CCACACCTATGAAGAAATTAA 0.448000 48 36 0 0 0.00058488 0 0 PSPC1 55269 broad.mit.edu 37 13 20346608 20346608 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:20346608G>A uc021rgx.1 - 2 585 c.448C>T c.(448-450)Cgc>Tgc p.R150C NM_001042414 NP_001035879 Q8WXF1 PSPC1_HUMAN Homo sapiens paraspeckle component 1 (PSPC1), transcript variant 1, mRNA. 150 RRM 1.|Sufficient for paraspeckles localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus RNA binding|nucleotide binding|protein binding p.R150L(1) breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) GTAGCGAAGCGAATCCGTAGA 0.453000 37 24 0 0 0.00278032 0 0 PRRC2C 23215 broad.mit.edu 37 1 171535487 171535487 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:171535487C>T uc010pmg.2 + 20 6493 c.6227C>T c.(6226-6228)tCt>tTt p.S2076F PRRC2C_uc010pmh.2_Missense_Mutation_p.S1053F|PRRC2C_uc010pmi.2_5'UTR NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA. 2076 protein C-terminus binding TCGGAAAAATCTGCTGACAAA 0.413000 7 16 0 0 0.000308642 0 0 GRIA1 2890 broad.mit.edu 37 5 153077667 153077667 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:153077667G>A uc011dcy.2 + 8 1255 c.1228G>A c.(1228-1230)Gat>Aat p.D410N GRIA1_uc003lva.4_Missense_Mutation_p.D400N|GRIA1_uc003luy.4_Missense_Mutation_p.D400N|GRIA1_uc003luz.4_Missense_Mutation_p.D305N|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.D320N|GRIA1_uc011dcx.2_Missense_Mutation_p.D331N|GRIA1_uc011dcz.2_Missense_Mutation_p.D410N|GRIA1_uc010jia.1_Missense_Mutation_p.D380N NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 400 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGCTGGGGGCGATAATTCAAG 0.478000 23 16 0 0 0.000566183 0 0 TPRX1 284355 broad.mit.edu 37 19 48305217 48305217 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:48305217G>A uc002php.2 - 1 1191 c.1051C>T c.(1051-1053)Cct>Tct p.P351S NM_198479 NP_940881 Q8N7U7 TPRX1_HUMAN Homo sapiens tetra-peptide repeat homeobox 1 (TPRX1), mRNA. 351 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P351S(2)|p.P351T(2) endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1) 18 all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048) GTGAAGTGAGGGAATAACTGG 0.592000 62 41 0 0 0.0025221 0 0 CDH11 1009 broad.mit.edu 37 16 64984894 64984894 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:64984894C>T uc002eoi.3 - 11 2104 c.1670G>A c.(1669-1671)cGt>cAt p.R557H CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_Missense_Mutation_p.R557H|CDH11_uc010vin.2_Missense_Mutation_p.R431H NM_001797 NP_001788 P55287 CAD11_HUMAN Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA. 557 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GAACCCTCCACGCCGGGCGTA 0.602000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 29 7 0 0 0.00198382 0 0 C17orf74 201243 broad.mit.edu 37 17 7329869 7329869 + Nonsense_Mutation SNP G T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:7329869G>T uc002ggw.3 + 2 632 c.559G>T c.(559-561)Gag>Tag p.E187* SPEM1_uc010vtw.1_Intron NM_175734 NP_783861 Q0P670 CQ074_HUMAN Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA. 187 integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) CTACCTGGAGGAGGAGGACAA 0.587000 52 36 3.54909e-21 1.29942e-20 0.00285205 1 0 abParts 0 broad.mit.edu 37 14 107099192 107099192 + RNA SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:107099192C>A uc021ser.1 - 109 c.4882G>T Parts of antibodies, mostly variable regions. TTTGCAGAGACAGTGAATTCT 0.498000 38 5 0.000274275 0.000995949 0.000274275 1 0 ATP4A 495 broad.mit.edu 37 19 36050865 36050865 + Missense_Mutation SNP C T T rs140861099 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:36050865C>T uc002oal.1 - 6 927 c.898G>A c.(898-900)Gag>Aag p.E300K ATP4A_uc010eee.1_5'Flank NM_000704 NP_000695 P20648 ATP4A_HUMAN Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA. 300 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) ACAAAATGCTCGATCTCGATA 0.582000 86 15 0 0 0.000566183 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642939 1642939 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:1642939C>T uc009ycy.1 - 1 367 c.280G>A c.(280-282)Gga>Aga p.G94R MOB2_uc001ltq.2_Intron NM_001012709 NP_001012727 Q6L8H1 KRA54_HUMAN Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA. 189 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCACAGCCTCCTTTGGAGCCC 0.652000 33 30 0 0 0.000953801 0 0 RAP1GAP 5909 broad.mit.edu 37 1 21940136 21940136 + Silent SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:21940136A>C uc001bev.3 - 5 477 c.459T>G c.(457-459)gtT>gtG p.V153V RAP1GAP_uc001bew.3_Silent_p.V217V|RAP1GAP_uc001bey.3_Silent_p.V153V|RAP1GAP_uc001bex.3_Silent_p.V153V NM_001145657 NP_001139129 P47736 RPGP1_HUMAN Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA. 153 regulation of Ras GTPase activity|signal transduction Golgi membrane|cytosol|membrane fraction GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) CCATCTGGACAACATTAGGGA 0.602000 126 29 0 0 0.00209593 0 0 FBXO36 130888 broad.mit.edu 37 2 230861576 230861576 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:230861576C>T uc010fxi.1 + 2 338 c.315C>T c.(313-315)atC>atT p.I105I FBXO36_uc002vqa.3_Silent_p.I105I|FBXO36_uc002vqb.3_Silent_p.I74I NM_174899 NP_777559 Q8NEA4 FBX36_HUMAN Homo sapiens F-box protein 36 (FBXO36), mRNA. 105 F-box. endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 7 Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008) TCCTGACTATCATTTCTTATC 0.348000 96 99 0 0 0.000781405 0 0 LAMC1 3915 broad.mit.edu 37 1 183093967 183093967 + Missense_Mutation SNP T G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:183093967T>G uc001gpy.4 + 13 2860 c.2603T>G c.(2602-2604)tTt>tGt p.F868C NM_002293 NP_002284 P11047 LAMC1_HUMAN Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA. 868 Laminin EGF-like 8. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AAAGACGGATTTTTTGGAAAT 0.453000 46 29 0 0 0.001512 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560008 44560008 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:44560008G>A uc002lcr.1 - 0 1981 c.1628C>T c.(1627-1629)gCc>gTc p.A543V KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA. 543 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GTCGCTGAGGGCGTCCGGATT 0.607000 56 91 0 0 0.000781405 0 0 SYT1 6857 broad.mit.edu 37 12 79693175 79693175 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:79693175G>A uc001sys.3 + 8 1325 c.654G>A c.(652-654)tcG>tcA p.S218S SYT1_uc001syt.3_Silent_p.S218S|SYT1_uc001syu.3_Silent_p.S215S|SYT1_uc001syv.3_Silent_p.S218S NM_001135805 NP_005630 P21579 SYT1_HUMAN Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA. 218 C2 1.|Phospholipid binding (Probable). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 TACCATACTCGGAATTGGGTG 0.348000 45 20 0 0 0.00278032 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599532 136599532 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:136599532C>T uc003qgx.1 - 3 740 c.487G>A c.(487-489)Gaa>Aaa p.E163K BCLAF1_uc003qgy.1_Missense_Mutation_p.E161K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.E161K|BCLAF1_uc003qgw.1_Missense_Mutation_p.E163K NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA. 163 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GTTTGTTTTTCCTGAGACCCT 0.433000 45 6 0 0 0.00116845 0 0 EFCAB6 64800 broad.mit.edu 37 22 44074038 44074038 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:44074038G>A uc003bdy.2 - 12 1571 c.1257C>T c.(1255-1257)ccC>ccT p.P419P EFCAB6_uc003bdz.2_Silent_p.P267P|EFCAB6_uc010gzi.2_Silent_p.P267P|EFCAB6_uc010gzk.1_Non-coding_Transcript|EFCAB6_uc011aqa.2_Missense_Mutation_p.P240L NM_022785 NP_942153 Q5THR3 EFCB6_HUMAN Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA. 419 EF-hand 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TCGGTCCATCGGGTTTCTGAG 0.318000 71 21 0 0 0.00152264 0 0 CNTN4 152330 broad.mit.edu 37 3 2942488 2942488 + Missense_Mutation SNP G A A rs145270510 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:2942488G>A uc003bpc.3 + 10 1399 c.1060G>A c.(1060-1062)Gaa>Aaa p.E354K CNTN4_uc003bpb.1_Missense_Mutation_p.E26K|CNTN4_uc021wsg.1_Missense_Mutation_p.E354K|CNTN4_uc003bpd.1_Missense_Mutation_p.E354K|CNTN4_uc003bpe.3_Missense_Mutation_p.E26K|CNTN4_uc003bpf.3_Missense_Mutation_p.E26K NM_175607 NP_783302 Q8IWV2 CNTN4_HUMAN Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA. 354 Ig-like C2-type 4. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) AAAAAATGGCGAACCTCTGCT 0.398000 55 14 0 0 0.00244969 0 0 DSC1 1823 broad.mit.edu 37 18 28719849 28719849 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:28719849G>A uc002kwn.3 - 10 1787 c.1525C>T c.(1525-1527)Cag>Tag p.Q509* DSC1_uc002kwm.3_Nonsense_Mutation_p.Q509* NM_024421 NP_077739 Q08554 DSC1_HUMAN Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA. 509 Cadherin 4. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CCTAACTTCTGATACCTAATT 0.294000 35 5 0 0 0.00116845 0 0 ARNTL 406 broad.mit.edu 37 11 13387074 13387075 + Missense_Mutation DNP GG AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:13387074_13387075GG>AA uc001mkr.3 + 9 895_896 c.487_488GG>AA c.(487-489)gga>AAa p.G163K ARNTL_uc001mko.3_Missense_Mutation_p.G120K|ARNTL_uc001mkp.3_Missense_Mutation_p.G163K|ARNTL_uc001mkq.3_Missense_Mutation_p.G163K|ARNTL_uc001mks.3_Missense_Mutation_p.G120K|ARNTL_uc001mkt.3_Missense_Mutation_p.G163K|ARNTL_uc009ygm.1_Missense_Mutation_p.G120K|ARNTL_uc001mkv.1_Missense_Mutation_p.G120K|ARNTL_uc001mkw.3_Missense_Mutation_p.G120K|ARNTL_uc001mkx.3_Missense_Mutation_p.G161K NM_001178 NP_001169 O00327 BMAL1_HUMAN Homo sapiens aryl hydrocarbon receptor nuclear translocator-like (ARNTL), transcript variant 1, mRNA. 163 PAS 1. circadian rhythm|positive regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|Hsp90 protein binding|aryl hydrocarbon receptor binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1) 20 Epithelial(150;0.0243) GTTTGTCGTAGGATGTGACCGA 0.416000 23 20 0 0 6.4e-05 0 0 PKD1L2 114780 broad.mit.edu 37 16 81151065 81151065 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:81151065G>A uc002fgh.1 - 40 6678 c.6678C>T c.(6676-6678)atC>atT p.I2226I PKD1L2_uc002fgf.1_Silent_p.I28I|PKD1L2_uc002fgg.1_Non-coding_Transcript NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 2228 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 AGCTGGCCAGGATGATGGCCA 0.612000 66 27 0 0 0.00209593 0 0 DOCK3 1795 broad.mit.edu 37 3 51297624 51297624 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:51297624G>A uc011bds.2 + 22 2245 c.2222G>A c.(2221-2223)cGg>cAg p.R741Q NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA. 741 cytoplasm GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GTACAGTCACGGATCCTGTAC 0.458000 36 5 0 0 0.00116845 0 0 OR51G2 81282 broad.mit.edu 37 11 4936407 4936407 + Missense_Mutation SNP G A A rs35090253 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:4936407G>A uc001lzr.1 - 0 487 c.487C>T c.(487-489)Cca>Tca p.P163S NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA. 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P163fs*27(1) autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AAAGGTAATGGAAAAATGAGT 0.473000 10 8 0 0 0.000274275 0 0 TRIP13 9319 broad.mit.edu 37 5 900650 900650 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:900650G>A uc003jbr.3 + 3 575 c.430G>A c.(430-432)Gaa>Aaa p.E144K TRIP13_uc010ite.2_Missense_Mutation_p.E144K NM_004237 NP_004228 Q15645 PCH2_HUMAN Homo sapiens thyroid hormone receptor interactor 13 (TRIP13), transcript variant 1, mRNA. 144 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 18 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) ATACGATGTGGAAGTCAAATC 0.458000 22 35 0 0 0.00111076 0 0 APOL5 80831 broad.mit.edu 37 22 36122392 36122392 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:36122392G>A uc003aof.3 + 2 277 c.277G>A c.(277-279)Gga>Aga p.G93R NM_030642 NP_085145 Q9BWW9 APOL5_HUMAN Homo sapiens apolipoprotein L, 5 (APOL5), mRNA. 93 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 CATGCCAGATGGAAATCTGTC 0.413000 125 37 0 0 0.000953801 0 0 RNF44 22838 broad.mit.edu 37 5 175958571 175958571 + Missense_Mutation SNP G A A rs144164161 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:175958571G>A uc003mek.1 - 3 883 c.358C>T c.(358-360)Ccc>Tcc p.P120S RNF44_uc011dfo.1_Missense_Mutation_p.P28S|RNF44_uc003mel.1_5'Flank NM_014901 NP_055716 Q7L0R7 RNF44_HUMAN Homo sapiens ring finger protein 44 (RNF44), mRNA. 120 Pro-rich. zinc ion binding endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1) 8 all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTAGGCAAGGGGAAGCCTTGG 0.612000 19 7 0 0 0.000274275 0 0 SLC34A2 10568 broad.mit.edu 37 4 25677759 25677759 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:25677759C>T uc003grr.3 + 12 1542 c.1461C>T c.(1459-1461)atC>atT p.I487I SLC34A2_uc003grs.3_Silent_p.I486I|SLC34A2_uc010iev.3_Silent_p.I486I NM_006424 NP_006415 O95436 NPT2B_HUMAN Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA. 487 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) TGTTGCAGATCGCCCTGTGCC 0.602000 T ROS1 NSCLC 14 7 0 0 0.000157383 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48873632 48873632 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:48873632G>A uc002rwp.2 + 7 2655 c.2541G>A c.(2539-2541)gaG>gaA p.E847E STON1-GTF2A1L_uc021vhf.1_Silent_p.E847E|STON1-GTF2A1L_uc010yol.2_Silent_p.E800E|STON1-GTF2A1L_uc002rws.2_Silent_p.E143E|STON1-GTF2A1L_uc010yom.2_Silent_p.E109E NM_172311 NP_758515 B7ZL16 B7ZL16_HUMAN Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA. 800 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex p.E847E(2) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TGGTGACAGAGACTTCTGGAA 0.353000 50 35 0 0 0.00128727 0 0 OR4M1 441670 broad.mit.edu 37 14 20249099 20249099 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:20249099C>T uc010tku.2 + 0 618 c.618C>T c.(616-618)atC>atT p.I206I NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA. 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTGGTCTGATCTCTGTGGTGT 0.473000 117 29 0 0 0.00209593 0 0 BSND 7809 broad.mit.edu 37 1 55474182 55474182 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:55474182G>A uc001cye.3 + 3 1087 c.844G>A c.(844-846)Gac>Aac p.D282N NM_057176 NP_476517 Q8WZ55 BSND_HUMAN Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA. 282 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 GGAGGCTTCGGACACAGGTGG 0.597000 23 36 0 0 0.00283554 0 0 PREP 5550 broad.mit.edu 37 6 105771585 105771585 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:105771585C>T uc003prc.3 - 9 1505 c.1272G>A c.(1270-1272)gaG>gaA p.E424E NM_002726 NP_002717 P48147 PPCE_HUMAN Homo sapiens prolyl endopeptidase (PREP), mRNA. 424 proteolysis serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) TTACGGTCACCTCTCGGAAAA 0.418000 19 17 0 0 0.00229938 0 0 KIAA1217 56243 broad.mit.edu 37 10 24831670 24831670 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:24831670G>A uc001iru.4 + 17 3986 c.3583G>A c.(3583-3585)Gaa>Aaa p.E1195K KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Missense_Mutation_p.E1159K|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Missense_Mutation_p.E878K|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Missense_Mutation_p.E878K|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.E31K NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 1195 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 TGTTGAATATGAAAATGGCCC 0.423000 19 21 0 0 0.00229938 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3140196 3140196 + Silent SNP G A A rs140343297 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:3140196G>A uc002ctv.1 - 4 1162 c.1074C>T c.(1072-1074)ttC>ttT p.F358F ZSCAN10_uc002cty.1_Silent_p.F19F|ZSCAN10_uc002ctw.1_Silent_p.F276F|ZSCAN10_uc002ctx.1_Silent_p.F286F NM_032805 NP_116194 Q96SZ4 ZSC10_HUMAN Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA. 358 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 AGCTCTGGCGGAAGCGGTGGC 0.701000 92 29 0 0 0.00283554 0 0 LCE2C 353140 broad.mit.edu 37 1 152648570 152648570 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:152648570A>G uc021ozc.1 + 0 79 c.79A>G c.(79-81)Aag>Gag p.K27E LCE2C_uc001fah.3_Missense_Mutation_p.K27E NM_178429 NP_848516 Q5TA81 LCE2C_HUMAN Homo sapiens late cornified envelope 2C (LCE2C), mRNA. 27 Cys-rich. keratinization endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 13 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) atgtccacctaagtgtccccc 0.582000 76 36 0 0 0.000814825 0 0 PEG3 5178 broad.mit.edu 37 19 57326440 57326440 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:57326440C>T uc002qnu.2 - 6 3721 c.3370G>A c.(3370-3372)Gac>Aac p.D1124N PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.D1095N|PEG3_uc002qnv.2_Missense_Mutation_p.D1124N|PEG3_uc002qnw.2_Missense_Mutation_p.D1000N|PEG3_uc002qnx.2_Missense_Mutation_p.D998N|PEG3_uc010etr.2_Missense_Mutation_p.D1124N NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 1124 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T1123I(1) 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) TTCTGATGGTCTGTGAGGTCT 0.488000 89 52 0 0 0.000781405 0 0 FCRL3 115352 broad.mit.edu 37 1 157665383 157665383 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:157665383G>A uc001fqz.4 - 7 1439 c.1147C>T c.(1147-1149)Cct>Tct p.P383S FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Missense_Mutation_p.P109S|FCRL3_uc001frb.3_Missense_Mutation_p.P383S|FCRL3_uc001frc.1_Missense_Mutation_p.P383S NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Homo sapiens Fc receptor-like 3 (FCRL3), mRNA. 383 Ig-like C2-type 5. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) GTGAGGACAGGGTGAGATACC 0.572000 53 14 0 0 0.000422831 0 0 MLL3 58508 broad.mit.edu 37 7 151884350 151884350 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:151884350G>A uc003wla.3 - 32 5224 c.5005C>T c.(5005-5007)Cct>Tct p.P1669S MLL3_uc003wkz.3_Missense_Mutation_p.P730S NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 1669 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GGCTTACCAGGGAATTCTTCC 0.368000 N medulloblastoma 78 14 0 0 0.000422831 0 0 SLC18A3 6572 broad.mit.edu 37 10 50820177 50820177 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:50820177C>T uc001jhw.3 + 0 1831 c.1391C>T c.(1390-1392)cCc>cTc p.P464L CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA. 464 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 CTCTATGCTCCCGTCTTGCTG 0.642000 39 10 0 0 0.000442599 0 0 WDR75 84128 broad.mit.edu 37 2 190324142 190324142 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:190324142C>T uc002uql.1 + 7 830 c.770C>T c.(769-771)tCa>tTa p.S257L WDR75_uc002uqm.1_Missense_Mutation_p.S193L|WDR75_uc002uqn.1_Missense_Mutation_p.S35L NM_032168 NP_115544 Q8IWA0 WDR75_HUMAN Homo sapiens WD repeat domain 75 (WDR75), mRNA. 257 nucleolus breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) TTGGCTTTTTCAGTGACAGGT 0.294000 93 22 0 0 0.000586117 0 0 GPRASP1 9737 broad.mit.edu 37 X 101909135 101909135 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:101909135C>T uc010nod.3 + 2 936 c.294C>T c.(292-294)ccC>ccT p.P98P ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Silent_p.P98P|GPRASP1_uc004ejj.4_Silent_p.P98P|GPRASP1_uc004eji.4_Silent_p.P98P|GPRASP1_uc022cbd.1_Silent_p.P98P NM_001099411 NP_055525 Q5JY77 GASP1_HUMAN Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA. 98 cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GGGCTCAGCCCAGGTTTGGTG 0.478000 6 125 0 0 0.000781405 0 0 GRK4 2868 broad.mit.edu 37 4 3015443 3015443 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:3015443G>A uc003ggn.1 + 7 1084 c.629G>A c.(628-630)gGa>gAa p.G210E GRK4_uc003ggo.1_Missense_Mutation_p.G210E|GRK4_uc003ggp.1_Missense_Mutation_p.G178E|GRK4_uc003ggq.1_Missense_Mutation_p.G178E NM_182982 NP_892027 P32298 GRK4_HUMAN Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA. 210 Protein kinase. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CGAGCCACAGGAAAAATGTAT 0.398000 174 64 0 0 0.000781405 0 0 EXD3 54932 broad.mit.edu 37 9 140245817 140245817 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:140245817G>A uc004cmp.2 - 12 1533 c.1337C>T c.(1336-1338)tCc>tTc p.S446F EXD3_uc010ncf.1_Missense_Mutation_p.S126F|EXD3_uc004cmq.1_Non-coding_Transcript NM_017820 NP_060290 Q8N9H8 MUT7_HUMAN Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA. 446 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 CACCAGCCGGGAAAAGGCCTG 0.672000 26 11 0 0 0.00185496 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41004490 41004490 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:41004490G>A uc003jmj.4 - 36 4642 c.4152C>T c.(4150-4152)taC>taT p.Y1384Y HEATR7B2_uc003jmi.4_Silent_p.Y939Y NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 1384 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 TTTCCTTGAAGTAGAAGCTCA 0.468000 54 74 0 0 0.000781405 0 0 DYX1C1 161582 broad.mit.edu 37 15 55789929 55789929 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:55789929C>T uc002adc.3 - 2 620 c.252G>A c.(250-252)gaG>gaA p.E84E CCPG1_uc002acy.3_5'UTR|CCPG1_uc010ugh.1_Non-coding_Transcript|CCPG1_uc010ugi.2_Non-coding_Transcript|DYX1C1_uc002adb.3_Silent_p.E84E|DYX1C1_uc002add.3_Silent_p.E84E NM_130810 NP_570722 Q8WXU2 DYXC1_HUMAN Homo sapiens dyslexia susceptibility 1 candidate 1 (DYX1C1), transcript variant 1, mRNA. 84 CS.|Mediates interaction with ESR1 and STUB1. neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process cytoplasm|nucleus estrogen receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171) CAGAAAGGGTCTCCCACATGG 0.393000 71 25 0 0 0.00127121 0 0 MAG 4099 broad.mit.edu 37 19 35801058 35801058 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:35801058G>A uc002nyy.2 + 7 1711 c.1513G>A c.(1513-1515)Gga>Aga p.G505R MAG_uc002nyx.2_Missense_Mutation_p.G505R|MAG_uc010eds.2_Missense_Mutation_p.G480R|MAG_uc002nyz.2_Missense_Mutation_p.G505R NM_002361 NP_001186145 P20916 MAG_HUMAN Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA. 505 Ig-like C2-type 4. 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) GCCCTTCCAGGGAGCCCGTGA 0.677000 21 23 0 0 0.00278032 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88886032 88886032 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:88886032C>T uc003ydz.3 - 0 265 c.168G>A c.(166-168)agG>agA p.R56R NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA. 56 p.R56S(2) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 GGACCTTTTTCCTCTGCATGC 0.502000 49 29 0 0 0.001512 0 0 PLXDC2 84898 broad.mit.edu 37 10 20506404 20506404 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:20506404G>A uc001iqg.1 + 10 1809 c.1172G>A c.(1171-1173)cGa>cAa p.R391Q PLXDC2_uc001iqh.1_Missense_Mutation_p.R342Q|PLXDC2_uc009xkc.1_Non-coding_Transcript NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN Homo sapiens plexin domain containing 2 (PLXDC2), mRNA. 391 Thr-rich. integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 ACTTCTTCTCGAACCACCACA 0.443000 11 5 0 0 0.00198382 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140755310 140755310 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140755310G>A uc003ljy.2 + 0 1660 c.1660G>A c.(1660-1662)Gac>Aac p.D554N PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.D554N NM_018919 NP_061742 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA. 556 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) GTTTGTGCTGGACCAGAATGA 0.637000 96 30 0 0 0.00283554 0 0 DNAH5 1767 broad.mit.edu 37 5 13769624 13769624 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:13769624C>T uc003jfd.2 - 56 9748 c.9706G>A c.(9706-9708)Gat>Aat p.D3236N DNAH5_uc003jfc.2_5'Flank NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3236 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCGGCTTTATCGTTGGCCACT 0.418000 Kartagener syndrome 48 20 0 0 0.00278032 0 0 DOCK3 1795 broad.mit.edu 37 3 51394464 51394464 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:51394464C>T uc011bds.2 + 43 4598 c.4575C>T c.(4573-4575)atC>atT p.I1525I NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA. 1525 DHR-2. cytoplasm GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GCTCCCTGATCAGCCAGTATC 0.522000 37 35 0 0 0.00283554 0 0 CNGA2 1260 broad.mit.edu 37 X 150912180 150912180 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:150912180G>A uc004fey.1 + 6 1429 c.1205G>A c.(1204-1206)aGc>aAc p.S402N NM_005140 NP_005131 Q16280 CNGA2_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA. 402 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) CGAAAGGTCAGCAAGGGGATG 0.498000 34 29 0 0 0.00178596 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51961290 51961290 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:51961290C>T uc002pwt.3 - 0 419 c.352G>A c.(352-354)Gat>Aat p.D118N SIGLEC8_uc010yda.2_Missense_Mutation_p.D118N|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.D118N NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA. 118 Ig-like V-type. cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GACCCCTTATCCCTCTTCCTG 0.488000 90 78 0 0 0.000781405 0 0 FRMPD1 22844 broad.mit.edu 37 9 37745844 37745844 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:37745844C>T uc004aag.1 + 15 3859 c.3815C>T c.(3814-3816)tCa>tTa p.S1272L FRMPD1_uc004aah.1_Missense_Mutation_p.S1272L NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA. 1272 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) TTAGAAACTTCAAACCATTGC 0.488000 98 25 0 0 0.000586117 0 0 SYT6 148281 broad.mit.edu 37 1 114680414 114680414 + Silent SNP G C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:114680414G>C uc021osa.1 - 2 852 c.774C>G c.(772-774)gcC>gcG p.A258A SYT6_uc021orz.1_Silent_p.A173A|SYT6_uc001eev.3_Silent_p.A173A NM_001253772 NP_001240701 Q5T7P8 SYT6_HUMAN Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA. 258 C2 1. acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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) AAAAGTCCTTGGCAGGGAGGT 0.552000 177 30 0 0 0.001512 0 0 FBRS 64319 broad.mit.edu 37 16 30680789 30680789 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:30680789C>T uc002dzd.4 + 11 1469 c.1206C>T c.(1204-1206)caC>caT p.H402H FBRS_uc002dzc.4_Silent_p.H314H NM_001105079 NP_001098549 Q9HAH7 FBRS_HUMAN Homo sapiens fibrosin (FBRS), mRNA. 402 Pro-rich. ovary(1) 1 Colorectal(24;0.103) AACCTGCTCACCCCTTGCTCT 0.687000 119 35 0 0 0.00128727 0 0 ZBTB45 84878 broad.mit.edu 37 19 59028057 59028057 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:59028057G>A uc002qtd.3 - 1 1276 c.984C>T c.(982-984)ccC>ccT p.P328P ZBTB45_uc002qtf.3_Silent_p.P328P NM_032792 NP_116181 Q96K62 ZBT45_HUMAN Homo sapiens zinc finger and BTB domain containing 45 (ZBTB45), mRNA. 328 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|urinary_tract(1) 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) AGAGTGCAACGGGCGGCCCTG 0.692000 21 7 0 0 0.000157383 0 0 HEATR2 54919 broad.mit.edu 37 7 813754 813754 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:813754G>A uc010krz.1 + 9 2021 c.2001G>A c.(1999-2001)ggG>ggA p.G667G HEATR2_uc003siz.2_Silent_p.G535G|HEATR2_uc003sjb.2_Silent_p.G47G|HEATR2_uc003sjc.2_Silent_p.G92G NM_017802 NP_060272 Q86Y56 HEAT2_HUMAN Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA. 667 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) GGCATGCGGGGAGGACAGCCG 0.667000 61 43 0 0 0.000680045 0 0 SIRPG 55423 broad.mit.edu 37 20 1617025 1617025 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:1617025C>T uc002wfm.1 - 2 622 c.557G>A c.(556-558)gGg>gAg p.G186E SIRPG_uc002wfn.1_Missense_Mutation_p.G186E|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron NM_018556 NP_061026 Q9P1W8 SIRPG_HUMAN Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA. 186 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 GAGCTCATTCCCATTTTTGAA 0.577000 59 26 0 0 0.00106085 0 0 IKZF2 22807 broad.mit.edu 37 2 213872633 213872633 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:213872633G>A uc002vem.3 - 7 1201 c.1032C>T c.(1030-1032)atC>atT p.I344I IKZF2_uc010fuu.3_Silent_p.I199I|IKZF2_uc002vej.3_Silent_p.I291I|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Silent_p.I270I|IKZF2_uc002vel.3_Silent_p.I265I|IKZF2_uc010fuw.3_Silent_p.I118I|IKZF2_uc010fux.3_Silent_p.I118I|IKZF2_uc010fuy.3_Silent_p.I272I|IKZF2_uc002ven.3_Silent_p.I318I|IKZF2_uc002vei.3_Silent_p.I122I NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA. 344 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) CCACTTCAGCGATTGTGCTTG 0.478000 18 6 0 0 0.000157383 0 0 PRUNE2 158471 broad.mit.edu 37 9 79321591 79321591 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:79321591G>A uc010mpk.3 - 7 5723 c.5599C>T c.(5599-5601)Ccc>Tcc p.P1867S PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.P1689S NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 1867 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 ACTCCCCAGGGACTGGCATTT 0.463000 10 21 0 0 0.00152264 0 0 FLG 2312 broad.mit.edu 37 1 152276668 152276668 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:152276668C>T uc001ezu.1 - 2 10730 c.10694G>A c.(10693-10695)gGa>gAa p.G3565E NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 3565 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGAGCAGATCCACGATGGTT 0.567000 Ichthyosis 320 56 0 0 0.000781405 0 0 DNAH7 56171 broad.mit.edu 37 2 196741308 196741308 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:196741308C>T uc002utj.4 - 36 6178 c.6077G>A c.(6076-6078)aGa>aAa p.R2026K NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 2026 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TCCCTTTCTTCTCTTGTCCAA 0.398000 44 35 0 0 0.00128727 0 0 TCF4 6925 broad.mit.edu 37 18 52946885 52946885 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:52946885G>A uc002lga.3 - 9 918 c.858C>T c.(856-858)gtC>gtT p.V286V TCF4_uc021ukg.1_Silent_p.V24V|TCF4_uc021ukh.1_Silent_p.V24V|TCF4_uc002lfw.4_Silent_p.V24V|TCF4_uc010xdu.1_Silent_p.V54V|TCF4_uc010xdv.1_Silent_p.V54V|TCF4_uc021uki.1_Silent_p.V113V|TCF4_uc002lfx.2_Silent_p.V113V|TCF4_uc010xdw.1_Silent_p.V54V|TCF4_uc002lfy.2_Silent_p.V142V|TCF4_uc010xdx.1_Silent_p.V160V|TCF4_uc021ukj.1_Silent_p.V124V|TCF4_uc021ukk.1_Silent_p.V124V|TCF4_uc021ukl.1_Silent_p.V182V|TCF4_uc002lfz.2_Silent_p.V184V|TCF4_uc010dph.1_Silent_p.V184V|TCF4_uc010dpi.3_Silent_p.V190V|TCF4_uc010xdy.1_Silent_p.V160V|TCF4_uc002lgc.4_Silent_p.V105V|TCF4_uc021ukm.1_Missense_Mutation_p.S69F NM_001243226 NP_001230155 P15884 ITF2_HUMAN Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA. 184 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) ATGGAGCATAGACCTGAGGAG 0.478000 79 15 0 0 0.000422831 0 0 PRDM9 56979 broad.mit.edu 37 5 23524458 23524459 + Missense_Mutation DNP CC TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:23524458_23524459CC>TT uc003jgo.3 + 9 1148_1149 c.966_967CC>TT c.(964-969)gcccgg>gcTTgg p.R323W NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN Homo sapiens PR domain containing 9 (PRDM9), mRNA. 323 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.R323W(2) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TGAACTGTGCCCGGGATGATGA 0.540000 HNSCC(3;0.000094) 36 11 0 0 6.4e-05 0 0 GLB1L2 89944 broad.mit.edu 37 11 134228965 134228965 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:134228965C>T uc001qhp.3 + 6 851 c.663C>T c.(661-663)gaC>gaT p.D221D GLB1L2_uc009zdg.1_Non-coding_Transcript NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA. 221 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) CACTGGAGGACCGTGGCATTG 0.582000 43 26 0 0 0.00127121 0 0 GALNT14 79623 broad.mit.edu 37 2 31135209 31135209 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:31135209C>T uc002rns.3 - 15 2036 c.1396_splice c.e15-1 p.V466_splice GALNT14_uc002rnq.3_Splice_Site_p.V441_splice|GALNT14_uc010ymr.2_Splice_Site_p.V426_splice|GALNT14_uc002rnr.3_Splice_Site_p.V461_splice NM_001253826 NP_001240755 Q96FL9 GLT14_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA. 461 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) AGGCCCATACCTGGGGAGAAA 0.547000 83 16 0 0 0.000958276 0 0 ARGFX 503582 broad.mit.edu 37 3 121289614 121289614 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:121289614G>A uc003eef.3 + 1 149 c.54G>A c.(52-54)agG>agA p.R18R NM_001012659 NP_001012677 A6NJG6 ARGFX_HUMAN Homo sapiens arginine-fifty homeobox (ARGFX), mRNA. 18 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) TCATCAATAGGAATTATTCCA 0.463000 56 17 0 0 0.000958276 0 0 PRR16 51334 broad.mit.edu 37 5 120022262 120022262 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:120022262C>T uc003ksq.3 + 1 936 c.773C>T c.(772-774)cCt>cTt p.P258L PRR16_uc003ksp.3_Missense_Mutation_p.P235L|PRR16_uc003ksr.3_Missense_Mutation_p.P188L NM_016644 NP_057728 Q569H4 PRR16_HUMAN Homo sapiens proline rich 16 (PRR16), mRNA. 258 Pro-rich. endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) CCCCATCTCCCTCCTTTCCCA 0.537000 7 9 0 0 0.000442599 0 0 RYR1 6261 broad.mit.edu 37 19 38960045 38960045 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:38960045G>A uc002oit.3 + 26 3787 c.3657G>A c.(3655-3657)caG>caA p.Q1219Q RYR1_uc002oiu.3_Silent_p.Q1219Q NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 1219 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.L1218I(1) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GTGGCCTCCAGGAAGGCTTCG 0.607000 142 29 0 0 0.0024448 0 0 ZNF419 79744 broad.mit.edu 37 19 58004510 58004510 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:58004510C>T uc010ety.1 + 4 828 c.588C>T c.(586-588)gcC>gcT p.A196A ZNF419_uc002qov.2_Silent_p.A195A|ZNF419_uc010etz.1_Silent_p.A183A|ZNF419_uc002qow.2_Silent_p.A163A|ZNF419_uc010eua.1_Silent_p.A182A|ZNF419_uc010eub.1_Silent_p.A150A|ZNF419_uc010euc.1_Silent_p.A149A NM_001098491 NP_001091961 Q96HQ0 ZN419_HUMAN Homo sapiens zinc finger protein 419 (ZNF419), transcript variant 1, mRNA. 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171) GTAGGGAGGCCTTTCATGCTG 0.483000 26 12 0 0 0.000978159 0 0 KIAA1109 84162 broad.mit.edu 37 4 123147970 123147970 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:123147970C>T uc003ieh.3 + 21 2947 c.2902C>T c.(2902-2904)Cgt>Tgt p.R968C KIAA1109_uc003iei.1_Missense_Mutation_p.R721C|KIAA1109_uc010ins.1_Missense_Mutation_p.R311C|KIAA1109_uc003iej.1_3'UTR NM_015312 NP_056127 Q2LD37 K1109_HUMAN Homo sapiens KIAA1109 (KIAA1109), mRNA. 968 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TGGAATTGATCGTCGGTTCTG 0.338000 34 36 0 0 0.000692331 0 0 AADACL2 344752 broad.mit.edu 37 3 151474812 151474812 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:151474812C>T uc003ezc.3 + 4 756 c.636C>T c.(634-636)atC>atT p.I212I MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_5'UTR NM_207365 NP_997248 Q6P093 ADCL2_HUMAN Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA. 212 extracellular region|integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2) 24 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) AACATAAAATCAAGATGCAAG 0.328000 22 20 0 0 0.00121646 0 0 LRRC33 375387 broad.mit.edu 37 3 196387578 196387578 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:196387578C>T uc003fwv.3 + 2 1168 c.1064C>T c.(1063-1065)tCc>tTc p.S355F NM_198565 NP_940967 Q86YC3 LRC33_HUMAN Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA. 355 integral to membrane p.L354H(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3) 40 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) CCTTCCCTCTCCCACCTGAAC 0.602000 51 16 0 0 0.00074312 0 0 GPD1 2819 broad.mit.edu 37 12 50500608 50500608 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:50500608G>A uc001rvz.3 + 4 553 c.520G>A c.(520-522)Gga>Aga p.G174R GPD1_uc001rwa.3_Missense_Mutation_p.G151R NM_005276 NP_005267 P21695 GPDA_HUMAN Homo sapiens glycerol-3-phosphate dehydrogenase 1 (soluble) (GPD1), mRNA. 174 glycerol-3-phosphate catabolic process|triglyceride biosynthetic process cytosol|glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 NADH(DB00157) CCCGGCCCAGGGACAACTCCT 0.483000 38 16 0 0 0.00121646 0 0 FAM135B 51059 broad.mit.edu 37 8 139164728 139164728 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:139164728C>T uc003yuy.3 - 12 2161 c.1990G>A c.(1990-1992)Gaa>Aaa p.E664K FAM135B_uc003yux.3_Missense_Mutation_p.E565K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E226K|FAM135B_uc003yvb.3_Missense_Mutation_p.E226K NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 664 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TCCTGCTCTTCTGTGTGAGAG 0.507000 HNSCC(54;0.14) 74 19 0 0 0.00121646 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42285015 42285016 + Missense_Mutation DNP GG AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:42285015_42285016GG>AA uc021sjp.1 - 12 1389_1390 c.1389_1390CC>TT c.(1387-1392)ctccgg>ctTTgg p.R464W PLA2G4E_uc010udc.2_5'UTR|PLA2G4E_uc001zov.2_Missense_Mutation_p.R88W NM_001206670 NP_001193599 Q3MJ16 PA24E_HUMAN Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA. 452 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) CTGCGCTGCCGGAGCTCCTCCT 0.579000 27 17 0 0 6.4e-05 0 0 MYH4 4622 broad.mit.edu 37 17 10364279 10364279 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:10364279G>A uc002gmn.3 - 11 1212 c.1101C>T c.(1099-1101)ttC>ttT p.F367F AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 367 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 GCTTTTGCTTGAATTTCATGT 0.478000 37 23 0 0 0.000586117 0 0 SLC9A5 6553 broad.mit.edu 37 16 67293800 67293800 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:67293800C>T uc002esm.3 + 11 1856 c.1793C>T c.(1792-1794)gCt>gTt p.A598V SLC9A5_uc010cee.3_Missense_Mutation_p.A303V|SLC9A5_uc010vji.2_Missense_Mutation_p.A102V|AK021876_uc002esn.1_5'Flank NM_004594 NP_004585 Q14940 SL9A5_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA. 598 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGAGGATGCTGTGATGCAT 0.612000 11 20 0 0 0.00121646 0 0 RNF214 257160 broad.mit.edu 37 11 117105018 117105018 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:117105018G>A uc001pqt.3 + 1 75 c.30G>A c.(28-30)gtG>gtA p.V10V PCSK7_uc001pqr.3_5'Flank|RNF214_uc001pqu.3_Silent_p.V10V|RNF214_uc010rxf.2_Silent_p.V10V NM_207343 NP_997226 Q8ND24 RN214_HUMAN Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA. 10 zinc ion binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) CTGGTGTTGTGGCCAATGCCC 0.458000 48 40 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179566258 179566258 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179566258C>T uc021vsy.1 - 106 27088 c.26863G>A c.(26863-26865)Gaa>Aaa p.E8955K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5616K|TTN_uc010fre.1_Missense_Mutation_p.E66K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 9882 Ig-like 72. 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) GTCTTACCTTCTGGTGGCACT 0.458000 54 44 0 0 0.000781405 0 0 PRPS1L1 221823 broad.mit.edu 37 7 18067241 18067241 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:18067241G>A uc003stz.3 - 0 246 c.165C>T c.(163-165)atC>atT p.I55I NM_175886 NP_787082 P21108 PRPS3_HUMAN Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA. 55 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) CACTCTGAACGATGTAGACAT 0.493000 302 195 0 0 0.000781405 0 0 CRLF2 64109 broad.mit.edu 37 X 1327758 1327758 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:1327758G>A uc004cpk.2 - 1 125 c.123C>T c.(121-123)acC>acT p.T41T CRLF2_uc022brt.1_Silent_p.T41T|CRLF2_uc004cpl.2_Intron|CRLF2_uc022brs.1_Silent_p.T41T NM_022148 NP_071431 Q9HC73 CRLF2_HUMAN Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA. 41 extracellular region|integral to membrane|plasma membrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9) 20 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) TCACCTGCACGGTTTCTAAAT 0.478000 """Mis, T""" """P2RY8, IGH@""" """B-ALL, Downs associated ALL""" 109 81 0 0 0.000781405 0 0 SLC6A14 11254 broad.mit.edu 37 X 115588792 115588792 + Silent SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:115588792A>G uc004eqi.3 + 12 1763 c.1632A>G c.(1630-1632)tcA>tcG p.S544S NM_007231 NP_009162 Q9UN76 S6A14_HUMAN Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA. 544 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) TTATCTGGTCATTGGTGCAAT 0.368000 4 59 0 0 0.000781405 0 0 LRRC30 339291 broad.mit.edu 37 18 7231221 7231221 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:7231221C>T uc010wzk.2 + 0 85 c.85C>T c.(85-87)Ccg>Tcg p.P29S NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA. 29 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GAAGTTTTCTCCGTGGGACGA 0.607000 38 42 0 0 0.00170553 0 0 CAPN9 10753 broad.mit.edu 37 1 230883448 230883448 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:230883448G>A uc001htz.1 + 0 319 c.206G>A c.(205-207)cGa>cAa p.R69Q CAPN9_uc009xfg.1_Missense_Mutation_p.R69Q|CAPN9_uc001hua.1_Missense_Mutation_p.R69Q NM_006615 NP_006606 O14815 CAN9_HUMAN Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA. 69 Calpain catalytic. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) GTGTGGAAACGACCAGGGGTG 0.622000 41 9 0 0 0.000442599 0 0 PPIA 5478 broad.mit.edu 37 7 44838999 44838999 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:44838999C>T uc003tlw.3 + 2 192 c.109C>T c.(109-111)Cgt>Tgt p.R37C PPIA_uc003tlx.3_Non-coding_Transcript|PPIA_uc010kyl.3_Non-coding_Transcript NM_021130 NP_066953 P62937 PPIA_HUMAN Homo sapiens peptidylprolyl isomerase A (cyclophilin A) (PPIA), mRNA. 37 PPIase cyclophilin-type. RNA-dependent DNA replication|entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|uncoating of virus cytosol|extracellular region|nucleus peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding breast(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 Cyclosporine(DB00091)|L-Proline(DB00172) AGAAAATTTTCGTGCTCTGAG 0.313000 142 31 0 0 0.00209593 0 0 NT5DC3 51559 broad.mit.edu 37 12 104171831 104171831 + Missense_Mutation SNP G T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:104171831G>T uc010swe.1 - 13 1464 c.1423C>A c.(1423-1425)Cag>Aag p.Q475K NM_001031701 NP_001026871 Q86UY8 NT5D3_HUMAN Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA. 475 hydrolase activity|metal ion binding NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2) 30 CTTCCAAACTGGGCATTGAAG 0.453000 37 13 0.00244969 0.00883854 0.00244969 1 0 KIAA2022 340533 broad.mit.edu 37 X 73961524 73961524 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:73961524G>A uc004eby.3 - 2 3485 c.2868C>T c.(2866-2868)acC>acT p.T956T NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 956 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 ATGGGAGTTGGGTATCTTGCA 0.438000 5 49 0 0 0.000781405 0 0 XPO6 23214 broad.mit.edu 37 16 28167786 28167786 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:28167786G>A uc002dpa.1 - 6 1207 c.706C>T c.(706-708)Ccc>Tcc p.P236S XPO6_uc002dpb.1_Missense_Mutation_p.P222S|XPO6_uc010vcp.1_Missense_Mutation_p.P236S NM_015171 NP_055986 Q96QU8 XPO6_HUMAN Homo sapiens exportin 6 (XPO6), mRNA. 236 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 TCAAGGATGGGAATTGGCTGA 0.473000 62 29 0 0 0.0024448 0 0 TRIM8 81603 broad.mit.edu 37 10 104416920 104416920 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:104416920C>T uc001kvz.2 + 5 1588 c.1465C>T c.(1465-1467)Cgc>Tgc p.R489C NM_030912 NP_112174 Q9BZR9 TRIM8_HUMAN Homo sapiens tripartite motif containing 8 (TRIM8), mRNA. 489 PML body|cytoplasm ligase activity|protein homodimerization activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GCCCTACCCCCGCTCCGGCCA 0.652000 14 8 0 0 0.000157383 0 0 DSTYK 25778 broad.mit.edu 37 1 205116758 205116758 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:205116758G>A uc001hbw.3 - 12 2782 c.2718C>T c.(2716-2718)ctC>ctT p.L906L DSTYK_uc001hbx.3_Silent_p.L861L NM_015375 NP_056190 Q6XUX3 DUSTY_HUMAN Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA. 906 Protein kinase. cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 TGATGCCCTGGAGCATGGGCT 0.507000 168 54 0 0 0.000781405 0 0 ABCD1 215 broad.mit.edu 37 X 153001939 153001939 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:153001939C>T uc004fif.2 + 3 1764 c.1365C>T c.(1363-1365)gtC>gtT p.V455V NM_000033 NP_000024 P33897 ABCD1_HUMAN Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA. 455 fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2) 18 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGTCTGGTGTCCGTGTGGAGG 0.627000 16 17 0 0 0.00074312 0 0 OR6C76 390326 broad.mit.edu 37 12 55820117 55820117 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:55820117C>T uc010spm.2 + 0 80 c.80C>T c.(79-81)tCg>tTg p.S27L NM_001005183 NP_001005183 A6NM76 O6C76_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA. 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GTGATTTTCTCGTTCCTATTT 0.418000 29 10 0 0 0.000442599 0 0 LY9 4063 broad.mit.edu 37 1 160797565 160797565 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:160797565C>T uc001fwu.3 + 9 1977 c.1927C>T c.(1927-1929)Ctt>Ttt p.L643F LY9_uc001fwv.3_Missense_Mutation_p.L629F|LY9_uc001fww.3_Missense_Mutation_p.L553F|LY9_uc001fwz.3_Missense_Mutation_p.L258F NM_002348 NP_002339 Q9HBG7 LY9_HUMAN Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA. 643 cell adhesion|immunoglobulin mediated immune response integral to membrane p.D642Y(1) autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) ACAGAATGATCTTGAGATTCC 0.473000 307 58 0 0 0.000781405 0 0 CHMP4C 92421 broad.mit.edu 37 8 82670747 82670747 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:82670747G>A uc003ycl.3 + 4 844 c.670G>A c.(670-672)Gat>Aat p.D224N NM_152284 NP_689497 Q96CF2 CHM4C_HUMAN Homo sapiens charged multivesicular body protein 4C (CHMP4C), mRNA. 224 Intramolecular interaction with N- terminus (By similarity). cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1) 10 AGAGGATGATGATATCAAACA 0.318000 22 13 0 0 0.00244969 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130215884 130215884 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:130215884C>T uc004evz.3 + 1 590 c.245C>T c.(244-246)cCt>cTt p.P82L ARHGAP36_uc004ewa.3_Missense_Mutation_p.P70L|ARHGAP36_uc004ewb.3_Missense_Mutation_p.P51L|ARHGAP36_uc004ewc.3_5'Flank NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA. 82 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 GAATTCAAACCTGACAGAGGT 0.582000 3 59 0 0 0.000781405 0 0 FAM5B 57795 broad.mit.edu 37 1 177249834 177249834 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:177249834G>A uc001glf.3 + 7 1834 c.1522G>A c.(1522-1524)Gac>Aac p.D508N FAM5B_uc001glg.3_Missense_Mutation_p.D403N NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA. 508 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 GCTGGAGACAGACTTGCAGGA 0.597000 26 26 0 0 0.001512 0 0 YJEFN3 374887 broad.mit.edu 37 19 19646234 19646234 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:19646234C>T uc002nmt.2 + 4 590 c.518C>T c.(517-519)cCc>cTc p.P173L YJEFN3_uc021uqw.1_Missense_Mutation_p.P172L|YJEFN3_uc010ecf.2_Missense_Mutation_p.P123L|YJEFN3_uc002nmu.2_Non-coding_Transcript|CILP2_uc002nmv.4_5'Flank|CILP2_uc002nmw.4_5'Flank NM_198537 NP_940939 A6XGL0 YJEN3_HUMAN Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 173 YjeF N-terminal. NS(1)|breast(1)|lung(3) 5 ATGGACATCCCCTTCCTGAGC 0.642000 14 14 0 0 0.00244969 0 0 LRRC7 57554 broad.mit.edu 37 1 70505081 70505081 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:70505081C>T uc001dep.3 + 18 3490 c.3460C>T c.(3460-3462)Cgc>Tgc p.R1154C LRRC7_uc009wbg.3_Missense_Mutation_p.R438C|LRRC7_uc001deq.3_Missense_Mutation_p.R395C NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA. 1154 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AGGGCTGGATCGCCAAAGCAG 0.527000 71 31 0 0 0.00058488 0 0 SHANK2 22941 broad.mit.edu 37 11 70348903 70348903 + Missense_Mutation SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:70348903T>A uc001oqc.3 - 14 2115 c.2003A>T c.(2002-2004)aAa>aTa p.K668I SHANK2_uc010rqn.2_Missense_Mutation_p.K144I|SHANK2_uc001opz.3_Missense_Mutation_p.K144I|BC127192_uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.K144I|SHANK2_uc001opy.3_5'Flank|SHANK2_uc010rqo.1_5'Flank NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA. 353 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding p.P667S(1) 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) GCATGTACCTTTCTTCCTGGC 0.667000 9 8 0 0 0.000442599 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161018182 161018182 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:161018182C>T uc001fxl.3 - 11 2975 c.2629G>A c.(2629-2631)Gag>Aag p.E877K USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Intron|ARHGAP30_uc001fxm.3_Missense_Mutation_p.E723K|ARHGAP30_uc009wtx.3_Missense_Mutation_p.E550K NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA. 877 Glu-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) GGATTGCCCTCTTTGGCACAG 0.582000 88 16 0 0 0.000422831 0 0 CBWD5 220869 broad.mit.edu 37 9 70181982 70181982 + RNA SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:70181982T>C uc004afw.3 - 2 c.2130A>G Q5RIA9 CBWD5_HUMAN Homo sapiens COBW domain containing 5, mRNA (cDNA clone IMAGE:5287337), complete cds. ATP binding all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18) CACTTTGTTTTAAAACTGTGA 0.373000 61 13 0 0 0.00047179 0 0 DNM3 26052 broad.mit.edu 37 1 172277953 172277953 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:172277953G>A uc001gie.3 + 15 2031 c.1855G>A c.(1855-1857)Gct>Act p.A619T DNM3_uc009wwb.2_Missense_Mutation_p.A619T|DNM3_uc001gif.3_Missense_Mutation_p.A619T NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA. 629 PH. endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 TCTACTAAGAGCTGGGGTCTA 0.368000 49 8 0 0 0.000157383 0 0 PLXNA2 5362 broad.mit.edu 37 1 208315790 208315790 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:208315790G>A uc001hgz.3 - 3 2148 c.1390C>T c.(1390-1392)Ccc>Tcc p.P464S NM_025179 NP_079455 O75051 PLXA2_HUMAN Homo sapiens plexin A2 (PLXNA2), mRNA. 464 Sema. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) CCACCATGGGGGGGACCGTCG 0.597000 124 35 0 0 0.00170553 0 0 HNRNPM 4670 broad.mit.edu 37 19 8538575 8538575 + Missense_Mutation SNP G T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:8538575G>T uc010dwe.3 + 10 1105 c.1025G>T c.(1024-1026)gGa>gTa p.G342V HNRNPM_uc010dwc.1_Intron|HNRNPM_uc010xke.1_Intron|HNRNPM_uc010dwd.3_Missense_Mutation_p.G303V|HNRNPM_uc002mka.3_Intron NM_005968 NP_005959 P52272 HNRPM_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA. 342 alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles RNA binding|nucleotide binding|protein domain specific binding endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1) 25 ATAGGATTTGGAATAAATAAA 0.294000 50 35 3.66854e-30 1.34606e-29 0.00170553 1 0 ABCA13 154664 broad.mit.edu 37 7 48288868 48288868 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:48288868C>T uc003toq.2 + 14 1949 c.1925C>T c.(1924-1926)gCc>gTc p.A642V ABCA13_uc010kyr.2_Missense_Mutation_p.A145V NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 642 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TATTGGAAAGCCTTCAAAAAG 0.328000 84 11 0 0 0.00136819 0 0 PPL 5493 broad.mit.edu 37 16 4935829 4935829 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:4935829C>T uc002cyd.1 - 21 2917 c.2827G>A c.(2827-2829)Gat>Aat p.D943N NM_002705 NP_002696 O60437 PEPL_HUMAN Homo sapiens periplakin (PPL), mRNA. 943 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 AGCACGGGATCCGGCACCTTC 0.607000 58 21 0 0 0.00278032 0 0 ZNF645 158506 broad.mit.edu 37 X 22291568 22291568 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:22291568C>T uc004dai.2 + 0 539 c.460C>T c.(460-462)Cgt>Tgt p.R154C NM_152577 NP_689790 Q8N7E2 ZN645_HUMAN Homo sapiens zinc finger protein 645 (ZNF645), mRNA. 154 intracellular zinc ion binding p.R154C(2) cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 27 TGAAAAAGTTCGTCCTCATAT 0.448000 32 32 0 0 0.00209593 0 0 ASPHD2 57168 broad.mit.edu 37 22 26830175 26830175 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:26830175C>T uc003acg.2 + 1 991 c.594C>T c.(592-594)atC>atT p.I198I NM_020437 NP_065170 Q6ICH7 ASPH2_HUMAN Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA. 198 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 16 TCCAGACCATCCTGTGTGAGT 0.552000 62 22 0 0 0.000586117 0 0 GRAMD3 65983 broad.mit.edu 37 5 125809035 125809035 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:125809035C>T uc011cwt.2 + 4 742 c.506C>T c.(505-507)tCc>tTc p.S169F GRAMD3_uc003ktu.3_Missense_Mutation_p.S154F|GRAMD3_uc011cwv.2_Missense_Mutation_p.S162F|GRAMD3_uc011cww.2_Missense_Mutation_p.S50F|GRAMD3_uc011cwx.2_Non-coding_Transcript|GRAMD3_uc011cwy.2_Missense_Mutation_p.S45F|GRAMD3_uc011cwz.2_Missense_Mutation_p.S138F|GRAMD3_uc011cwu.1_Missense_Mutation_p.S138F NM_001146319 NP_001139791 Q96HH9 GRAM3_HUMAN Homo sapiens GRAM domain containing 3 (GRAMD3), transcript variant 1, mRNA. 154 GRAM. breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108) TGTTTTCATTCCAAAGTCTTT 0.299000 51 16 0 0 0.00074312 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50471821 50471821 + Missense_Mutation SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:50471821T>A uc003daq.3 - 2 366 c.328A>T c.(328-330)Aat>Tat p.N110Y CACNA2D2_uc003dap.3_Missense_Mutation_p.N110Y NM_001174051 NP_001167522 Q9NY47 CA2D2_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA. 110 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) TGAGGCTCATTCTCCTGTACC 0.572000 48 61 0 0 0.000781405 0 0 IPO8 10526 broad.mit.edu 37 12 30787023 30787023 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:30787023G>A uc001rjd.3 - 22 3241 c.2893C>T c.(2893-2895)Ctg>Ttg p.L965L IPO8_uc010sjt.2_Silent_p.L760L|IPO8_uc001rje.1_Silent_p.L454L NM_006390 NP_006381 O15397 IPO8_HUMAN Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA. 965 intracellular protein transport|signal transduction cytoplasm|nucleus Ran GTPase binding|protein transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) ATACTTATCAGAGCTTGTGTA 0.378000 23 6 0 0 0.00198382 0 0 EPRS 2058 broad.mit.edu 37 1 220174493 220174493 + Missense_Mutation SNP G C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:220174493G>C uc001hly.1 - 16 2438 c.2168C>G c.(2167-2169)gCc>gGc p.A723G RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Missense_Mutation_p.A474G|EPRS_uc001hlz.1_Missense_Mutation_p.A730G|EPRS_uc009xdt.1_Missense_Mutation_p.A311G NM_004446 NP_004437 P07814 SYEP_HUMAN Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA. 723 Glutamyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) ATTTTTTGTGGCTTCTACTTT 0.358000 66 25 0 0 0.00106085 0 0 POTEM 641455 broad.mit.edu 37 14 20020059 20020059 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:20020059C>T uc001vwc.3 - 0 214 c.162G>A c.(160-162)atG>atA p.M54I POTEM_uc001vwb.3_Non-coding_Transcript NM_001145442 NP_001138914 A6NI47 POTEM_HUMAN Homo sapiens POTE ankyrin domain family, member M (POTEM), mRNA. 54 endometrium(4)|kidney(1)|lung(4) 9 TGAGTGTCTTCATAGCAGAAT 0.617000 293 9 0 0 0.00244969 0 0 UNC5B 219699 broad.mit.edu 37 10 73055663 73055663 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:73055663C>T uc001jro.3 + 13 2722 c.2271C>T c.(2269-2271)tcC>tcT p.S757S UNC5B_uc001jrp.3_Silent_p.S746S NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA. 757 apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 TGCGCCTCTCCCTCCATGACC 0.607000 19 13 0 0 0.00074312 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138844 126138844 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:126138844C>T uc001uhe.1 + 8 2833 c.2825C>T c.(2824-2826)tCc>tTc p.S942F TMEM132B_uc001uhf.1_Missense_Mutation_p.S454F NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 942 integral to membrane p.H941Y(1) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) ATCCCCCATTCCCACGACTGG 0.512000 58 23 0 0 0.000586117 0 0 SF3A1 10291 broad.mit.edu 37 22 30733846 30733846 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:30733846G>A uc003ahl.3 - 11 1916 c.1784C>T c.(1783-1785)cCc>cTc p.P595L SF3A1_uc021wnt.1_Missense_Mutation_p.P530L NM_005877 NP_005868 Q15459 SF3A1_HUMAN Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA. 595 nuclear mRNA 3'-splice site recognition U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm RNA binding|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GGGCATGACGGGTACTGCGGA 0.597000 52 56 0 0 0.000781405 0 0 USH2A 7399 broad.mit.edu 37 1 215933013 215933013 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:215933013C>T uc001hku.1 - 56 11607 c.11220G>A c.(11218-11220)gaG>gaA p.E3740E NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 3740 Fibronectin type-III 22. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.L3739L(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGCTATTGGGCTCCAGGTTTT 0.408000 HNSCC(13;0.011) 58 8 0 0 0.000274275 0 0 DNAH7 56171 broad.mit.edu 37 2 196837012 196837012 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:196837012C>T uc002utj.4 - 15 2113 c.2012G>A c.(2011-2013)aGg>aAg p.R671K NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 671 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AATGATTTTCCTGTGTTCTTC 0.328000 90 15 0 0 0.000566183 0 0 TMPRSS2 7113 broad.mit.edu 37 21 42851186 42851186 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:42851186C>T uc010gor.3 - 6 768 c.707G>A c.(706-708)gGa>gAa p.G236E TMPRSS2_uc002yzj.3_Missense_Mutation_p.G199E|TMPRSS2_uc010gos.1_Missense_Mutation_p.G199E NM_001135099 NP_005647 O15393 TMPS2_HUMAN Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA. 199 SRCR. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) ATCCACTATTCCTTGGCTAGA 0.368000 T """ERG, ETV1, ETV4, ETV5""" prostate 86 35 0 0 0.00111076 0 0 ERBB4 2066 broad.mit.edu 37 2 212251709 212251709 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:212251709G>A uc002veg.1 - 26 3448 c.3350C>T c.(3349-3351)cCc>cTc p.P1117L ERBB4_uc002veh.1_Missense_Mutation_p.P1101L|ERBB4_uc010zji.1_Missense_Mutation_p.P1107L|ERBB4_uc010zjj.1_Missense_Mutation_p.P1091L NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 1117 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TTGGACATGGGGTGCCACTGG 0.562000 TSP Lung(8;0.080) 48 27 0 0 0.001512 0 0 HCLS1 3059 broad.mit.edu 37 3 121350806 121350806 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:121350806C>T uc003eeh.4 - 13 1473 c.1348G>A c.(1348-1350)Gat>Aat p.D450N HCLS1_uc011bjj.2_Missense_Mutation_p.D413N NM_005335 NP_005326 P14317 HCLS1_HUMAN Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA. 450 SH3. erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) TCGTCCGGATCAAAGGAAAGC 0.493000 44 76 0 0 0.000781405 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768792 31768792 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:31768792G>A uc002nsy.4 - 1 1972 c.1907C>T c.(1906-1908)tCc>tTc p.S636F NM_020856 NP_065907 Q63HK5 TSH3_HUMAN Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA. 636 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) CTTGGGCGGGGAAAGCTTCCC 0.577000 35 22 0 0 0.00188189 0 0 CCR3 1232 broad.mit.edu 37 3 46307076 46307076 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:46307076C>T uc003cpl.2 + 2 1557 c.526C>T c.(526-528)Cga>Tga p.R176* CCR3_uc003cpg.2_Nonsense_Mutation_p.R143*|CCR3_uc003cpk.2_Nonsense_Mutation_p.R164*|CCR3_uc003cpi.2_Nonsense_Mutation_p.R143*|CCR3_uc010hjb.2_Nonsense_Mutation_p.R161*|CCR3_uc003cpj.2_Nonsense_Mutation_p.R143*|CCR3_uc021wwz.1_Nonsense_Mutation_p.R143* NM_178329 NP_847899 P51677 CCR3_HUMAN Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA. 143 G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) GTTTGCCCTTCGAGCCCGGAC 0.498000 63 22 0 0 0.00229938 0 0 CCL5 6352 broad.mit.edu 37 17 34199381 34199381 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:34199381C>T uc002hkf.3 - 2 344 c.276G>A c.(274-276)taG>taA p.*92* NM_002985 NP_002976 P13501 CCL5_HUMAN Homo sapiens chemokine (C-C motif) ligand 5 (CCL5), mRNA. 0 activation of phospholipase D activity|cell-cell signaling|cellular protein complex assembly|chemokine-mediated signaling pathway|dendritic cell chemotaxis|eosinophil chemotaxis|immune response|leukocyte cell-cell adhesion|macrophage chemotaxis|negative regulation of T cell apoptosis|negative regulation of viral genome replication|neutrophil activation|positive regulation of T cell apoptosis|positive regulation of T cell chemotaxis|positive regulation of T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of homotypic cell-cell adhesion|positive regulation of innate immune response|positive regulation of macrophage chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of translational initiation|positive regulation of tyrosine phosphorylation of STAT protein|positive regulation of viral genome replication|protein tetramerization|regulation of chronic inflammatory response|response to virus extracellular space CCR1 chemokine receptor binding|CCR4 chemokine receptor binding|CCR5 chemokine receptor binding|chemoattractant activity|chemokine activity|chemokine receptor antagonist activity|protein homodimerization activity|protein self-association|receptor signaling protein tyrosine kinase activator activity breast(1)|kidney(1)|lung(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0183) ACTCTCCATCCTAGCTCATCT 0.517000 33 46 0 0 0.000781405 0 0 VSTM2A 222008 broad.mit.edu 37 7 54617573 54617573 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:54617573C>T uc022adk.1 + 3 749 c.344C>T c.(343-345)tCc>tTc p.S115F VSTM2A_uc010kzf.3_Missense_Mutation_p.S115F NM_182546 NP_872352 Q8TAG5 VTM2A_HUMAN Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA. 115 Ig-like V-type. extracellular region p.S115S(1) endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) CTTCAGATTTCCAAAGTGAGG 0.423000 14 40 0 0 0.000680045 0 0 ISG15 9636 broad.mit.edu 37 1 949739 949739 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:949739G>A uc001acj.4 + 1 486 c.379G>A c.(379-381)Gag>Aag p.E127K NM_005101 NP_005092 P05161 ISG15_HUMAN Homo sapiens ISG15 ubiquitin-like modifier (ISG15), mRNA. 127 Ubiquitin-like 2. ISG15-protein conjugation|cell-cell signaling|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway cytosol|extracellular space protein binding endometrium(1)|lung(1)|upper_aerodigestive_tract(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-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) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) GCTGACCTTCGAGGGGAAGCC 0.662000 93 26 0 0 0.000720815 0 0 DIRAS2 54769 broad.mit.edu 37 9 93375518 93375518 + Missense_Mutation SNP T G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:93375518T>G uc022bjs.1 - 0 592 c.592A>C c.(592-594)Atc>Ctc p.I198L DIRAS2_uc004aqx.1_Missense_Mutation_p.I198L NM_017594 NP_060064 Q96HU8 DIRA2_HUMAN Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA. 198 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity kidney(1)|large_intestine(6)|lung(3)|skin(2) 12 CTTCACATGATCACGCACTTG 0.562000 87 20 0 0 0.00188189 0 0 CSMD1 64478 broad.mit.edu 37 8 3216769 3216769 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:3216769G>A uc022aqr.1 - 20 3599 c.3209C>T c.(3208-3210)tCc>tTc p.S1070F CSMD1_uc011kwj.2_Missense_Mutation_p.S463F|CSMD1_uc003wqe.3_Missense_Mutation_p.S227F NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1071 Sushi 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CAGGAAGCAGGAAAACGTCAG 0.557000 107 35 0 0 0.000692331 0 0 ZDHHC15 158866 broad.mit.edu 37 X 74636998 74636998 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:74636998C>T uc004ecg.3 - 9 1369 c.891G>A c.(889-891)atG>atA p.M297I ZDHHC15_uc004ech.3_Missense_Mutation_p.M288I|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. 297 integral to membrane zinc ion binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2) 26 TCATAGACCTCATAGGGAAGG 0.443000 35 40 0 0 0.00148497 0 0 ZNF19 7567 broad.mit.edu 37 16 71510036 71510036 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:71510036G>A uc010cgc.1 - 5 920 c.414C>T c.(412-414)caC>caT p.H138H ZNF23_uc002fai.3_Intron|ZNF19_uc002fak.1_Silent_p.H126H|ZNF19_uc002fal.1_Silent_p.H126H|ZNF19_uc002fam.1_Silent_p.H138H NM_006961 NP_008892 P17023 ZNF19_HUMAN Homo sapiens zinc finger protein 19 (ZNF19), mRNA. 138 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1) 22 Ovarian(137;0.00965) BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598) GGATGTCCTGGTGCTTTTCCA 0.458000 28 14 0 0 0.00185496 0 0 MUC16 94025 broad.mit.edu 37 19 9068704 9068704 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9068704G>A uc002mkp.3 - 2 18946 c.18742C>T c.(18742-18744)Ctt>Ttt p.L6248F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6250 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 ACAGAAACAAGAGAGGAGGTA 0.478000 35 39 0 0 0.00170553 0 0 KCND1 3750 broad.mit.edu 37 X 48826440 48826440 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:48826440C>T uc004dlx.1 - 0 1812 c.239G>A c.(238-240)gGc>gAc p.G80D KCND1_uc004dlw.1_5'Flank NM_004979 NP_004970 Q9NSA2 KCND1_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA. 80 voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 24 GAAGTACTCGCCTGAGTCAGC 0.587000 14 6 0 0 0.000157383 0 0 DPRX 503834 broad.mit.edu 37 19 54140070 54140070 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:54140070C>T uc002qcf.1 + 2 455 c.404C>T c.(403-405)cCc>cTc p.P135L NM_001012728 NP_001012746 A6NFQ7 DPRX_HUMAN Homo sapiens divergent-paired related homeobox (DPRX), mRNA. 135 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|large_intestine(1)|lung(7) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) ATCCTGTACCCCAACCTCAAG 0.517000 101 30 0 0 0.00209593 0 0 KIAA2018 205717 broad.mit.edu 37 3 113375879 113375879 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:113375879G>A uc003eam.3 - 6 5061 c.4650C>T c.(4648-4650)tcC>tcT p.S1550S KIAA2018_uc003eal.3_Silent_p.S1494S NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN Homo sapiens KIAA2018 (KIAA2018), mRNA. 1550 Gln-rich. regulation of transcription, DNA-dependent membrane|nucleus DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 GGCCAGTCTTGGATCGGGATT 0.498000 32 16 0 0 0.00152264 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64717044 64717044 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:64717044G>A uc010nko.3 + 1 708 c.641G>A c.(640-642)gGa>gAa p.G214E NM_001010888 NP_001010888 Q5HYM0 ZC12B_HUMAN Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA. 203 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TCCTGCAGAGGAATACAACTT 0.408000 2 14 0 0 0.000308642 0 0 YIPF7 285525 broad.mit.edu 37 4 44652082 44652082 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:44652082G>A uc021xnx.1 - 1 125 c.108C>T c.(106-108)taC>taT p.Y36Y YIPF7_uc010ify.2_Silent_p.Y36Y NM_182592 NP_872398 Q8N8F6 YIPF7_HUMAN Homo sapiens Yip1 domain family, member 7 (YIPF7), mRNA. 36 endoplasmic reticulum membrane|integral to membrane breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1) 12 AATTAGATTGGTAAAAATCAG 0.289000 4 8 0 0 0.000978159 0 0 NCOR2 9612 broad.mit.edu 37 12 124835140 124835140 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:124835140G>A uc021rga.1 - 27 3975 c.3858C>T c.(3856-3858)tcC>tcT p.S1286S NCOR2_uc021rgb.1_Silent_p.S1270S|NCOR2_uc010tbb.2_Silent_p.S1279S|NCOR2_uc010tbc.2_Silent_p.S1269S|NCOR2_uc021rgc.1_Silent_p.S1269S|NCOR2_uc010tba.2_Silent_p.S1287S|NCOR2_uc001ugj.1_Silent_p.S1287S NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA. 1287 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CACCCTCATAGGACAAGACGT 0.642000 75 24 0 0 0.000878237 0 0 RPH3A 22895 broad.mit.edu 37 12 113306309 113306309 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:113306309G>A uc010syl.2 + 7 881 c.519G>A c.(517-519)aaG>aaA p.K173K RPH3A_uc001ttz.3_Silent_p.K173K|RPH3A_uc001tty.3_Silent_p.K169K|RPH3A_uc009zwe.1_Silent_p.K169K|RPH3A_uc010sym.2_Silent_p.K124K|RPH3A_uc001tua.3_5'UTR NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA. 173 Pro-rich. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) TGCCTATAAAGAAGACCAAGC 0.592000 26 13 0 0 0.00136819 0 0 OR4M2 390538 broad.mit.edu 37 15 22369419 22369419 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:22369419C>T uc010tzu.2 + 0 942 c.844C>T c.(844-846)Cct>Tct p.P282S abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA. 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P282H(1) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TTTAATATTCCCTTTACGTAA 0.378000 23 5 0 0 0.00116845 0 0 COL15A1 1306 broad.mit.edu 37 9 101824273 101824273 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:101824273G>A uc004azb.1 + 36 3629 c.3423G>A c.(3421-3423)atG>atA p.M1141I NM_001855 NP_001846 P39059 COFA1_HUMAN Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA. 1141 Nonhelical region 10 (NC10). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TCAGCAACATGGATGACATGC 0.423000 67 75 0 0 0.000781405 0 0 SP140L 93349 broad.mit.edu 37 2 231222634 231222634 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:231222634C>T uc010fxm.1 + 2 313 c.222C>T c.(220-222)ttC>ttT p.F74F SP140_uc010zma.1_Non-coding_Transcript|SP140L_uc010fxn.2_5'UTR NM_138402 NP_612411 Q9H930 LY10L_HUMAN Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA. 74 HSR. nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 CATTTCCATTCCTTGAGGGCC 0.373000 227 56 0 0 0.000781405 0 0 LRRTM4 80059 broad.mit.edu 37 2 77746589 77746589 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:77746589G>A uc002snr.3 - 2 821 c.406C>T c.(406-408)Cgc>Tgc p.R136C LRRTM4_uc002snq.3_Missense_Mutation_p.R136C|LRRTM4_uc002sns.2_Missense_Mutation_p.R136C|LRRTM4_uc002snt.2_Missense_Mutation_p.R137C NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA. 136 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) TCCAGATTGCGGAGATTGGGA 0.383000 35 9 0 0 0.000978159 0 0 HIST1H2BA 255626 broad.mit.edu 37 6 25727414 25727414 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:25727414C>T uc003nfd.3 + 0 278 c.278C>T c.(277-279)tCc>tTc p.S93F HIST1H2AA_uc003nfc.3_5'Flank NM_170610 NP_733759 Q96A08 H2B1A_HUMAN Homo sapiens histone cluster 1, H2ba (HIST1H2BA), mRNA. 93 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(1) 2 ACCATTTCTTCCAGAGAGATT 0.517000 70 20 0 0 0.00152264 0 0 CP 1356 broad.mit.edu 37 3 148928053 148928053 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:148928053C>T uc003ewy.4 - 2 761 c.508G>A c.(508-510)Gga>Aga p.G170R CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_5'Flank|CP_uc003ewz.3_Missense_Mutation_p.G170R|CP_uc010hvf.1_5'Flank NM_000096 NP_000087 P00450 CERU_HUMAN Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA. 170 F5/8 type A 1.|Plastocyanin-like 1. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) TTGCCATCTCCTTCCCCAGGA 0.408000 63 28 0 0 0.000878237 0 0 TTN 7273 broad.mit.edu 37 2 179597422 179597422 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179597422G>A uc021vsy.1 - 52 12859 c.12634C>T c.(12634-12636)Ccc>Tcc p.P4212S TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P873S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 5139 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) TTTGAGCCGGGTTTAGTTACA 0.423000 18 4 0 0 0.000602214 0 0 DPY19L4 286148 broad.mit.edu 37 8 95800237 95800237 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:95800237G>A uc003ygx.2 + 17 2088 c.1964G>A c.(1963-1965)aGa>aAa p.R655K NM_181787 NP_861452 Q7Z388 D19L4_HUMAN Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA. 655 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) GGACCCATGAGAGGCTGTAGG 0.323000 296 130 0 0 0.000781405 0 0 IL17RA 23765 broad.mit.edu 37 22 17583051 17583051 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:17583051C>T uc002zly.3 + 6 752 c.621C>T c.(619-621)atC>atT p.I207I NM_014339 NP_055154 Q96F46 I17RA_HUMAN Homo sapiens interleukin 17 receptor A (IL17RA), mRNA. 207 fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) ACCCCAACATCACCGTGGAGA 0.577000 123 17 0 0 0.00074312 0 0 BSN 8927 broad.mit.edu 37 3 49695089 49695089 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:49695089C>T uc003cxe.4 + 4 8214 c.8100C>T c.(8098-8100)atC>atT p.I2700I NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 2700 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) AGGTGGAGATCGTCAGGTACA 0.652000 83 25 0 0 0.001512 0 0 SYNE2 23224 broad.mit.edu 37 14 64461881 64461881 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:64461881C>T uc001xgl.3 + 22 3131 c.2901C>T c.(2899-2901)atC>atT p.I967I SYNE2_uc001xgm.3_Silent_p.I967I|SYNE2_uc021ruh.1_Silent_p.I967I NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 967 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AGAAACTTATCCGTAGAGGAA 0.294000 48 9 0 0 0.000442599 0 0 KIAA1109 84162 broad.mit.edu 37 4 123207806 123207806 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:123207806C>T uc003ieh.3 + 50 9193 c.9148C>T c.(9148-9150)Ccc>Tcc p.P3050S KIAA1109_uc003iel.1_Missense_Mutation_p.P985S NM_015312 NP_056127 Q2LD37 K1109_HUMAN Homo sapiens KIAA1109 (KIAA1109), mRNA. 3050 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TCTTAACCTTCCCCCTGTTAC 0.393000 81 27 0 0 0.00127121 0 0 ACE 1636 broad.mit.edu 37 17 61557763 61557763 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:61557763G>A uc002jau.2 + 4 755 c.721G>A c.(721-723)Gaa>Aaa p.E241K ACE_uc010wpi.2_Missense_Mutation_p.E241K|ACE_uc010ddu.2_Missense_Mutation_p.E58K NM_000789 NP_000780 P12821 ACE_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA. 241 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GGACGATCTGGAACACCTCTA 0.612000 19 58 0 0 0.000781405 0 0 IL31RA 133396 broad.mit.edu 37 5 55195914 55195914 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:55195914G>A uc003jql.3 + 7 1215 c.1023G>A c.(1021-1023)ggG>ggA p.G341G IL31RA_uc003jqk.3_Silent_p.G341G|IL31RA_uc011cqj.2_Silent_p.G199G|IL31RA_uc003jqm.3_Silent_p.G322G|IL31RA_uc003jqn.3_Silent_p.G341G|IL31RA_uc010iwa.1_Silent_p.G309G|IL31RA_uc021xyq.1_Silent_p.G322G|IL31RA_uc003jqo.3_Silent_p.G199G NM_139017 NP_001229568 Q8NI17 IL31R_HUMAN Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA. 309 Fibronectin type-III 4. JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) ATTCTCTTGGGAAGTCTCCAG 0.453000 118 50 0 0 0.000781405 0 0 SLC1A7 6512 broad.mit.edu 37 1 53553855 53553855 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:53553855G>A uc021onn.1 - 10 1854 c.1686C>T c.(1684-1686)atC>atT p.I562I SLC1A7_uc021onm.1_Missense_Mutation_p.R438C|SLC1A7_uc001cux.3_Silent_p.I156I|SLC1A7_uc001cuy.3_Silent_p.I503I|SLC1A7_uc021ono.1_Non-coding_Transcript NM_006671 NP_006662 O00341 EAA5_HUMAN Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA. 503 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) GGGCTGCCACGATCTCCTGGA 0.612000 21 8 0 0 0.000157383 0 0 LAMB3 3914 broad.mit.edu 37 1 209796966 209796966 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:209796966C>T uc001hhg.3 - 14 2632 c.2242G>A c.(2242-2244)Gag>Aag p.E748K LAMB3_uc009xco.3_Missense_Mutation_p.E748K|LAMB3_uc001hhh.3_Missense_Mutation_p.E748K|LAMB3_uc010psl.1_Non-coding_Transcript|MIR4260_uc021pil.1_5'Flank NM_001017402 NP_001121113 Q13751 LAMB3_HUMAN Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA. 748 Domain II. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) CTCTCTGCCTCTCTCCGGCTG 0.657000 47 6 0 0 0.000566183 0 0 ZNF439 90594 broad.mit.edu 37 19 11978400 11978400 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:11978400C>T uc002mss.3 + 2 644 c.516C>T c.(514-516)tcC>tcT p.S172S ZNF439_uc002msr.3_Silent_p.S36S NM_152262 NP_689475 Q8NDP4 ZN439_HUMAN Homo sapiens zinc finger protein 439 (ZNF439), mRNA. 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2) 27 ATCACCCCTCCTTGAGAACAC 0.413000 105 24 0 0 0.00278032 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110510883 110510883 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:110510883G>A uc003yne.3 + 67 10816 c.10712_splice c.e67-1 p.G3571_splice NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 3571 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTTGGTAAAAGGTGGGAGAAG 0.398000 HNSCC(38;0.096) 10 22 0 0 0.00047179 0 0 RFPL2 10739 broad.mit.edu 37 22 32588960 32588960 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:32588960G>A uc003amg.3 - 3 1421 c.485C>T c.(484-486)tCc>tTc p.S162F RFPL2_uc003ame.3_Missense_Mutation_p.S101F|RFPL2_uc003amf.3_Missense_Mutation_p.S72F|RFPL2_uc003amh.3_Missense_Mutation_p.S72F NM_001098527 NP_001153018 O75678 RFPL2_HUMAN Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA. 162 zinc ion binding endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 21 CTTGATGTGGGAAGCCAGCCT 0.532000 160 37 0 0 0.000953801 0 0 NOS1 4842 broad.mit.edu 37 12 117723924 117723924 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:117723924C>T uc001twn.2 - 5 1986 c.1275G>A c.(1273-1275)caG>caA p.Q425Q NOS1_uc021ren.1_Silent_p.Q89Q|NOS1_uc021reo.1_Silent_p.Q89Q|NOS1_uc001twm.2_Silent_p.Q425Q NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 425 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.Q425L(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GCTTGGACCACTGGATCCTGC 0.542000 57 19 0 0 0.00152264 0 0 SLC24A3 57419 broad.mit.edu 37 20 19566125 19566125 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:19566125C>T uc002wrl.3 + 5 746 c.549C>T c.(547-549)atC>atT p.I183I NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA. 183 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TTGGCACCATCGTGGGCTCAG 0.542000 149 54 0 0 0.000781405 0 0 UNC5A 90249 broad.mit.edu 37 5 176295932 176295932 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:176295932C>T uc003mey.3 + 4 880 c.688C>T c.(688-690)Cgc>Tgc p.R230C UNC5A_uc003mex.1_Missense_Mutation_p.R230C|UNC5A_uc010jkg.1_Missense_Mutation_p.R190C NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA. 230 Ig-like C2-type. apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGTGGCACGTCGCCGCAGCGC 0.657000 18 16 0 0 0.00121646 0 0 DGKI 9162 broad.mit.edu 37 7 137531208 137531208 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:137531208C>T uc003vtt.3 - 1 402 c.401_splice c.e1+1 p.R134_splice DGKI_uc003vtu.3_Splice_Site NM_004717 NP_004708 O75912 DGKI_HUMAN Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA. 134 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 CCGCACCTACCTGTACGAGAC 0.672000 42 7 0 0 0.000274275 0 0 ACSM4 341392 broad.mit.edu 37 12 7459334 7459334 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:7459334G>A uc001qsx.1 + 1 407 c.407G>A c.(406-408)cGa>cAa p.R136Q NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA. 136 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 GCTTGCATACGAACAGGTCAG 0.463000 10 5 0 0 0.00116845 0 0 GPR27 2850 broad.mit.edu 37 3 71804034 71804034 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:71804034G>A uc011bge.2 + 0 834 c.834G>A c.(832-834)acG>acA p.T278T EIF4E3_uc003dox.3_5'Flank|EIF4E3_uc011bgd.2_5'Flank|EIF4E3_uc010hoc.3_5'Flank NM_018971 NP_061844 Q9NS67 GPR27_HUMAN Homo sapiens G protein-coupled receptor 27 (GPR27), mRNA. 278 integral to membrane|plasma membrane G-protein coupled receptor activity kidney(1)|lung(2)|ovary(1)|prostate(1) 5 Prostate(10;0.00899) BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156) AATTCAAGACGGAGAAGAGGC 0.716000 25 12 0 0 0.000978159 0 0 SLC35F3 148641 broad.mit.edu 37 1 234445036 234445036 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:234445036C>T uc001hvy.1 + 3 943 c.798C>T c.(796-798)atC>atT p.I266I SLC35F3_uc001hwa.1_Silent_p.I197I NM_173508 NP_775779 Q8IY50 S35F3_HUMAN Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA. 197 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) TCTCATGGATCGTTCTCAGGG 0.443000 29 47 0 0 0.000781405 0 0 ITIH6 347365 broad.mit.edu 37 X 54784275 54784275 + Silent SNP T G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:54784275T>G uc004dtj.2 - 7 2262 c.2232A>C c.(2230-2232)ctA>ctC p.L744L NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA. 744 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity TCTGGTGTGATAGAGAGCCGG 0.517000 5 85 0 0 0.000781405 0 0 DAPK1 1612 broad.mit.edu 37 9 90219967 90219968 + Missense_Mutation DNP GG AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:90219967_90219968GG>AA uc004apc.3 + 2 299_300 c.161_162GG>AA c.(160-162)cgg>cAA p.R54Q DAPK1_uc004ape.3_Missense_Mutation_p.R54Q|DAPK1_uc004apd.3_Missense_Mutation_p.R54Q|DAPK1_uc011ltg.2_Missense_Mutation_p.R54Q|DAPK1_uc011lth.2_5'UTR NM_004938 NP_004929 P53355 DAPK1_HUMAN Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA. 54 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity p.R53W(1) breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 TCCAGCCGGCGGGGTGTGAGCC 0.559000 Chronic Lymphocytic Leukemia, Familial Clustering of 27 34 0 0 6.4e-05 0 0 GGTLC1 92086 broad.mit.edu 37 20 23965943 23965943 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:23965943G>A uc002wts.3 - 5 721 c.588C>T c.(586-588)ttC>ttT p.F196F GGTLC1_uc002wtu.3_Silent_p.F196F NM_178312 NP_842564 Q9BX51 GGTL1_HUMAN Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA. 196 gamma-glutamyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 CCACAGCAATGAAGGTGGACG 0.632000 87 36 0 0 0.00128727 0 0 ATXN1 6310 broad.mit.edu 37 6 16327105 16327105 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:16327105G>A uc003nbt.3 - 7 2408 c.1437C>T c.(1435-1437)ccC>ccT p.P479P ATXN1_uc010jpi.3_Silent_p.P479P|ATXN1_uc010jpj.1_Intron NM_000332 NP_001121636 P54253 ATX1_HUMAN Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA. 479 RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association p.L478L(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CCAGGTGCTGGGGCAGGCTGC 0.672000 151 48 0 0 0.000781405 0 0 IL5RA 3568 broad.mit.edu 37 3 3134004 3134004 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:3134004C>T uc011ask.2 - 9 1542 c.898G>A c.(898-900)Gat>Aat p.D300N IL5RA_uc010hbq.3_Intron|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Missense_Mutation_p.D300N|IL5RA_uc011asl.2_Missense_Mutation_p.D300N|IL5RA_uc011asm.1_Missense_Mutation_p.D300N|IL5RA_uc010hbt.2_Missense_Mutation_p.D300N|IL5RA_uc011asn.1_Missense_Mutation_p.D300N|IL5RA_uc010hbu.2_Missense_Mutation_p.D300N|IL5RA_uc010hbp.3_Missense_Mutation_p.D11N NM_000564 NP_783853 Q01344 IL5RA_HUMAN Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA. 300 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) TTAGAAAGATCATCAATTATT 0.418000 80 22 0 0 0.00188189 0 0 CADPS2 93664 broad.mit.edu 37 7 122114448 122114448 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:122114448G>A uc022akp.1 - 11 2395 c.1973C>T c.(1972-1974)tCc>tTc p.S658F CADPS2_uc003vkg.4_Missense_Mutation_p.S359F|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Missense_Mutation_p.S659F|CADPS2_uc022akr.1_Missense_Mutation_p.S662F NM_001167940 NP_001161412 Q86UW7 CAPS2_HUMAN Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA. 662 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 GCAAGAATAGGAATCATTCAG 0.378000 65 19 0 0 0.00152264 0 0 CYP26C1 340665 broad.mit.edu 37 10 94822677 94822678 + Missense_Mutation DNP GG AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:94822677_94822678GG>AA uc010qns.2 + 2 630_631 c.630_631GG>AA c.(628-633)ctggcc>ctAAcc p.A211T CYP26C1_uc009xud.3_Non-coding_Transcript NM_183374 NP_899230 Q6V0L0 CP26C_HUMAN Homo sapiens cytochrome P450, family 26, subfamily C, polypeptide 1 (CYP26C1), mRNA. 211 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1)|lung(3)|ovary(1) 5 Colorectal(252;0.122) GCGCCACGCTGGCCCGGACCTT 0.673000 21 12 0 0 6.4e-05 0 0 TTN 7273 broad.mit.edu 37 2 179641514 179641514 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179641514C>T uc021vsy.1 - 27 5302 c.5077G>A c.(5077-5079)Gat>Aat p.D1693N TTN_uc021vsz.1_Missense_Mutation_p.D1647N|TTN_uc021vta.1_Missense_Mutation_p.D1647N|TTN_uc021vtb.1_Missense_Mutation_p.D1647N|TTN_uc002unb.2_Missense_Mutation_p.D1693N|AK123298_uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 1693 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.L1693H(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) TCATAGAGATCACCTTCTTCC 0.463000 28 12 0 0 0.00185496 0 0 SLC9B1 150159 broad.mit.edu 37 4 103870499 103870499 + Silent SNP G A A rs78972166 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:103870499G>A uc003hww.3 - 3 439 c.297C>T c.(295-297)ttC>ttT p.F99F SLC9B1_uc003hwu.3_Silent_p.F99F|SLC9B1_uc010ilm.3_5'UTR|SLC9B1_uc003hwv.3_Intron|SLC9B1_uc011cev.2_Intron NM_139173 NP_631912 Q4ZJI4 NHDC1_HUMAN Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 (SLC9B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 99 integral to membrane solute:hydrogen antiporter activity AAAAAATAATGAACAACCCAA 0.348000 52 22 0 0 0.00047179 0 0 GRXCR1 389207 broad.mit.edu 37 4 42895554 42895554 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:42895554G>A uc003gwt.3 + 0 272 c.271G>A c.(271-273)Ggt>Agt p.G91S NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA. 91 G -> V. cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 CAGTGAGAAGGGTTTTGGTAC 0.453000 18 23 0 0 0.00047179 0 0 DPPA4 55211 broad.mit.edu 37 3 109050814 109050814 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:109050814G>A uc003dxq.4 - 2 298 c.243C>T c.(241-243)atC>atT p.I81I DPPA4_uc011bho.2_Silent_p.I81I|DPPA4_uc011bhp.1_Silent_p.I81I NM_018189 NP_060659 Q7L190 DPPA4_HUMAN Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA. 81 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 GTAATGGAGGGATTGGTATCT 0.478000 69 31 0 0 0.00283554 0 0 FOXN2 3344 broad.mit.edu 37 2 48573792 48573792 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:48573792C>T uc002rwh.1 + 2 754 c.439C>T c.(439-441)Cca>Tca p.P147S NM_002158 NP_002149 P32314 FOXN2_HUMAN Homo sapiens forkhead box N2 (FOXN2), mRNA. 147 embryo 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 endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) GGACCATTTTCCATATTTTGC 0.393000 93 68 0 0 0.000781405 0 0 TMEM139 135932 broad.mit.edu 37 7 142983219 142983219 + Missense_Mutation SNP C T T rs143413842 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:142983219C>T uc003wcl.3 + 3 423 c.169C>T c.(169-171)Cgg>Tgg p.R57W CASP2_uc003wco.3_5'Flank|CASP2_uc003wcp.3_5'Flank|CASP2_uc011kta.2_5'Flank|TMEM139_uc022aoc.1_Missense_Mutation_p.R57W|TMEM139_uc010lov.3_Missense_Mutation_p.R57W|TMEM139_uc003wck.4_Missense_Mutation_p.R57W|TMEM139_uc003wcn.3_Intron|TMEM139_uc022aod.1_Intron|TMEM139_uc003wcm.3_Missense_Mutation_p.R57W NM_001242774 NP_001229703 Q8IV31 TM139_HUMAN Homo sapiens transmembrane protein 139 (TMEM139), transcript variant 3, mRNA. 57 integral to membrane endometrium(1)|lung(4)|ovary(1)|prostate(1) 7 Melanoma(164;0.059) TCTCCTGGTCCGGTTTCTGGA 0.547000 91 23 0 0 0.00188189 0 0 FAM21C 253725 broad.mit.edu 37 10 46254773 46254773 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:46254773C>T uc001jcu.3 + 16 1677 c.1559C>T c.(1558-1560)tCt>tTt p.S520F FAM21C_uc001jcs.2_Missense_Mutation_p.S465F|FAM21C_uc010qfk.2_Missense_Mutation_p.S520F|FAM21C_uc010qfi.2_Missense_Mutation_p.S496F|FAM21C_uc010qfj.2_Intron NM_015262 NP_056077 A8K5W5 A8K5W5_HUMAN Homo sapiens family with sequence similarity 21, member C (FAM21C), transcript variant 1, mRNA. 520 p.Y520S(3) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 GTTACCTTATCTTACAGCAAA 0.403000 38 20 0 0 0.00278032 0 0 EPS8L2 64787 broad.mit.edu 37 11 722701 722701 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:722701C>T uc001lqt.3 + 13 1484 c.1237C>T c.(1237-1239)Ccc>Tcc p.P413S EPS8L2_uc001lqu.3_Missense_Mutation_p.P413S|EPS8L2_uc010qwk.2_Missense_Mutation_p.P429S|EPS8L2_uc001lqv.3_Missense_Mutation_p.P368S|EPS8L2_uc001lqw.3_Missense_Mutation_p.P25S|EPS8L2_uc001lqx.3_Missense_Mutation_p.P25S|EPS8L2_uc001lqy.3_5'Flank NM_022772 NP_073609 Q9H6S3 ES8L2_HUMAN Homo sapiens EPS8-like 2 (EPS8L2), mRNA. 413 cytoplasm NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1) 13 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCCACAGGTGCCCCTCTACGT 0.692000 9 5 0 0 0.000602214 0 0 CDH7 1005 broad.mit.edu 37 18 63430132 63430132 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:63430132C>T uc002lkb.3 + 1 480 c.54C>T c.(52-54)ttC>ttT p.F18F CDH7_uc002ljz.3_Silent_p.F18F|CDH7_uc002lka.3_Silent_p.F18F NM_004361 NP_387450 Q9ULB5 CADH7_HUMAN Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA. 18 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) TAGCTCTTTTCCTGTGTTTTT 0.438000 19 4 0 0 0.000602214 0 0 PTPRK 5796 broad.mit.edu 37 6 128298072 128298072 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:128298072G>A uc003qbk.3 - 25 4203 c.3836C>T c.(3835-3837)tCc>tTc p.S1279F PTPRK_uc010kfc.3_Missense_Mutation_p.S1286F|PTPRK_uc003qbj.3_Missense_Mutation_p.S1280F|PTPRK_uc011ebu.2_Missense_Mutation_p.S1302F NM_002844 NP_002835 Q15262 PTPRK_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA. 1279 Tyrosine-protein phosphatase 2. cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) ATTAACCTGGGACAAGTCGAC 0.358000 13 7 0 0 0.000274275 0 0 CACNA1G 8913 broad.mit.edu 37 17 48678454 48678454 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:48678454C>T uc002irk.1 + 18 4206 c.3834C>T c.(3832-3834)ttC>ttT p.F1278F CACNA1G_uc002iri.1_Silent_p.F1278F|CACNA1G_uc002irj.1_Silent_p.F1255F|CACNA1G_uc002irl.1_Silent_p.F1255F|CACNA1G_uc002irm.1_Silent_p.F1255F|CACNA1G_uc002irn.1_Silent_p.F1255F|CACNA1G_uc002iro.1_Silent_p.F1255F|CACNA1G_uc002irp.1_Silent_p.F1278F|CACNA1G_uc002irq.1_Silent_p.F1255F|CACNA1G_uc002irr.1_Silent_p.F1278F|CACNA1G_uc002irs.1_Silent_p.F1278F|CACNA1G_uc002irt.1_Silent_p.F1278F|CACNA1G_uc002iru.1_Silent_p.F1255F|CACNA1G_uc002irv.1_Silent_p.F1278F|CACNA1G_uc002irw.1_Silent_p.F1255F|CACNA1G_uc002irx.1_Silent_p.F1191F|CACNA1G_uc002iry.1_Silent_p.F1191F|CACNA1G_uc002isg.1_Silent_p.F1191F|CACNA1G_uc002ish.1_Silent_p.F1191F|CACNA1G_uc002isi.1_Silent_p.F1168F|CACNA1G_uc002irz.1_Silent_p.F1191F|CACNA1G_uc002isa.1_Silent_p.F1191F|CACNA1G_uc002isd.1_Silent_p.F1191F|CACNA1G_uc002isb.1_Silent_p.F1191F|CACNA1G_uc002isc.1_Silent_p.F1191F|CACNA1G_uc002ise.1_Silent_p.F1191F|CACNA1G_uc002isf.1_Silent_p.F1191F|CACNA1G_uc002isj.3_Silent_p.F2F NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 1278 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) ACAAGATGTTCGACCACGTGG 0.607000 77 30 0 0 0.0024448 0 0 RBMS3 27303 broad.mit.edu 37 3 29476339 29476339 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:29476339A>G uc003cel.3 + 1 551 c.181A>G c.(181-183)Acc>Gcc p.T61A RBMS3_uc010hfq.3_Missense_Mutation_p.T61A|RBMS3_uc003cek.3_Missense_Mutation_p.T61A|RBMS3_uc010hfr.3_Missense_Mutation_p.T61A|RBMS3_uc003cem.3_Missense_Mutation_p.T60A NM_001003793 NP_001003793 Q6XE24 RBMS3_HUMAN Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA. 61 RRM 1. cytoplasm RNA binding|nucleotide binding breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 11 Ovarian(412;0.0956) GTTGAGTAAAACCAACCTGTA 0.572000 29 34 0 0 0.00058488 0 0 HOXA3 3200 broad.mit.edu 37 7 27148121 27148121 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:27148121C>T uc011jzl.2 - 2 945 c.745G>A c.(745-747)Gat>Aat p.D249N HOXA3_uc003syk.3_Missense_Mutation_p.D249N NM_030661 NP_705895 O43365 HXA3_HUMAN Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA. 249 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 CCCTTCTGATCCTTTTTGTAC 0.602000 100 22 0 0 0.00278032 0 0 MYOM3 127294 broad.mit.edu 37 1 24408641 24408641 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:24408641G>A uc001bin.4 - 17 2293 c.2130C>T c.(2128-2130)aaC>aaT p.N710N MYOM3_uc001bim.4_Silent_p.N367N|MYOM3_uc001bio.3_Silent_p.N710N|MYOM3_uc001bip.1_3'UTR NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN Homo sapiens myomesin family, member 3 (MYOM3), mRNA. 710 Fibronectin type-III 4. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TCTTCCCGCAGTTCAGGAGGG 0.592000 26 8 0 0 0.000274275 0 0 PDE1B 5153 broad.mit.edu 37 12 54968987 54968987 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:54968987G>A uc001sgd.2 + 10 1563 c.1170G>A c.(1168-1170)gaG>gaA p.E390E PDE1B_uc010soz.2_Silent_p.E253E|PDE1B_uc010spa.1_Silent_p.E349E|PDE1B_uc001sge.3_Silent_p.E370E|PDE1B_uc001sgf.3_Silent_p.E253E|PDE1B_uc009znq.3_Silent_p.E186E NM_000924 NP_000915 Q01064 PDE1B_HUMAN Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA. 390 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 CCCTCATGGAGGAATTCTTCC 0.572000 68 27 0 0 0.001512 0 0 EIF3D 8664 broad.mit.edu 37 22 36922103 36922104 + Missense_Mutation DNP GG AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:36922103_36922104GG>AA uc003apr.3 - 1 230_231 c.65_66CC>TT c.(64-66)ccc>cTT p.P22L EIF3D_uc011amt.2_Missense_Mutation_p.P22L|EIF3D_uc011ams.2_5'UTR NM_003753 NP_003744 O15371 EIF3D_HUMAN Homo sapiens eukaryotic translation initiation factor 3, subunit D (EIF3D), mRNA. 22 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 15 GAAACTGCTCGGGAACCGCACA 0.515000 101 12 0 0 6.4e-05 0 0 DARC 2532 broad.mit.edu 37 1 159176102 159176102 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:159176102C>T uc001ftp.4 + 0 1054 c.879C>T c.(877-879)gcC>gcT p.A293A DARC_uc001fto.3_Silent_p.A291A NM_001122951 NP_001116423 Q16570 DUFFY_HUMAN Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA. 291 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) TGGCAGAAGCCCTGGCAATTT 0.597000 136 165 0 0 0.000781405 0 0 CYP1A1 1543 broad.mit.edu 37 15 75014995 75014995 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:75014995G>A uc002ayp.4 - 1 566 c.444C>T c.(442-444)gcC>gcT p.A148A CYP1A1_uc010bjy.3_Silent_p.A148A|CYP1A1_uc010bju.3_Intron|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Intron|CYP1A1_uc002ayq.4_Silent_p.A148A|CYP1A1_uc010bjz.1_Intron|CYP1A1_uc021sqk.1_Silent_p.A148A NM_000499 NP_000490 P04798 CP1A1_HUMAN Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA. 148 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) CTGGGTCAGAGGCAATGGAGA 0.592000 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 41 68 0 0 0.000781405 0 0 CELA1 1990 broad.mit.edu 37 12 51733658 51733658 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:51733658G>A uc001ryi.1 - 5 636 c.595C>T c.(595-597)Cgc>Tgc p.R199C NM_001971 NP_001962 Q9UNI1 CELA1_HUMAN Homo sapiens chymotrypsin-like elastase family, member 1 (CELA1), mRNA. 199 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 15 CATCCAGAGCGAACTCCATCT 0.602000 33 9 0 0 0.000442599 0 0 VWF 7450 broad.mit.edu 37 12 6094283 6094283 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:6094283G>A uc001qnn.1 - 39 7154 c.6904C>T c.(6904-6906)Ccc>Tcc p.P2302S VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN Homo sapiens von Willebrand factor (VWF), mRNA. 2302 VWFC 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CCACACGTGGGAGCTAGAGGA 0.542000 59 24 0 0 0.00278032 0 0 NTNG1 22854 broad.mit.edu 37 1 107937869 107937869 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:107937869G>A uc001dvh.4 + 3 1699 c.981G>A c.(979-981)ggG>ggA p.G327G NTNG1_uc001dvc.4_Silent_p.G327G|NTNG1_uc010out.2_Silent_p.G327G|NTNG1_uc001dvf.4_Silent_p.G327G|NTNG1_uc001dvi.3_5'UTR|NTNG1_uc001dve.3_Non-coding_Transcript|NTNG1_uc009wek.3_Non-coding_Transcript|NTNG1_uc001dvg.3_Non-coding_Transcript|NTNG1_uc009wem.3_5'UTR|NTNG1_uc001dvd.1_Silent_p.G327G NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA. 327 Laminin EGF-like 1. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) CAGACTGTGGGAAATGCAAGA 0.483000 113 16 0 0 0.000422831 0 0 STK11IP 114790 broad.mit.edu 37 2 220479232 220479232 + Missense_Mutation SNP C T T rs138069010 by1000genomes TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:220479232C>T uc002vml.3 + 22 2909 c.2866C>T c.(2866-2868)Cgc>Tgc p.R956C NM_052902 NP_443134 Q8N1F8 S11IP_HUMAN Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA. 956 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTTGGAGGCTCGCCAGTTCTT 0.557000 49 19 0 0 0.00047179 0 0 CRB2 286204 broad.mit.edu 37 9 126133697 126133697 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:126133697G>A uc004bnx.1 + 7 2368 c.2276G>A c.(2275-2277)tGg>tAg p.W759* CRB2_uc004bnw.1_Nonsense_Mutation_p.W759* NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA. 759 Laminin G-like 2. extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 AGCCAGCCCTGGGGTGGGCCC 0.667000 97 25 0 0 0.000720815 0 0 ASCC2 84164 broad.mit.edu 37 22 30200727 30200727 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:30200727G>A uc003agr.3 - 12 1397 c.1253C>T c.(1252-1254)tCg>tTg p.S418L ASCC2_uc011akr.2_Missense_Mutation_p.S342L|ASCC2_uc003ags.3_Non-coding_Transcript NM_032204 NP_115580 Q9H1I8 ASCC2_HUMAN Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA. 418 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) CTCAATCACCGATGGGTCTTT 0.582000 589 83 0 0 0.000781405 0 0 SYCP2L 221711 broad.mit.edu 37 6 10894142 10894142 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:10894142C>T uc003mzo.3 + 2 417 c.121C>T c.(121-123)Cag>Tag p.Q41* SYCP2L_uc011dim.1_Non-coding_Transcript NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA. 41 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) TAAAGGATTTCAGAAAATAAA 0.308000 8 30 0 0 0.00178596 0 0 IK 3550 broad.mit.edu 37 5 140041216 140041216 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140041216G>A uc003lgq.3 + 16 1535 c.1425G>A c.(1423-1425)aaG>aaA p.K475K NM_006083 NP_006074 Q13123 RED_HUMAN Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA. 475 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTAACAAGAAGGGGCCCTTAG 0.493000 6 11 0 0 0.00185496 0 0 CD300LB 124599 broad.mit.edu 37 17 72527465 72527465 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:72527465G>A uc002jkx.2 - 0 149 c.136C>T c.(136-138)Ctt>Ttt p.L46F CD300LB_uc010wqz.1_Missense_Mutation_p.L46F NM_174892 NP_777552 A8K4G0 CLM7_HUMAN Homo sapiens CD300 molecule-like family member b (CD300LB), mRNA. 9 Ig-like V-type. integral to membrane|plasma membrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1) 21 AGGCTGAGAAGGAGCAGAGCA 0.622000 59 25 0 0 0.00127121 0 0 ZNF229 7772 broad.mit.edu 37 19 44933871 44933871 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:44933871G>A uc002oze.1 - 5 1519 c.1085C>T c.(1084-1086)tCg>tTg p.S362L ZNF229_uc010ejk.1_Missense_Mutation_p.S16L|ZNF229_uc010ejl.1_Missense_Mutation_p.S356L NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN Homo sapiens zinc finger protein 229 (ZNF229), mRNA. 362 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) AAGAAGAACCGATTTATACCT 0.498000 90 31 0 0 0.00209593 0 0 TCTN2 79867 broad.mit.edu 37 12 124163773 124163773 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:124163773C>T uc001ufp.3 + 4 629 c.501C>T c.(499-501)ccC>ccT p.P167P TCTN2_uc009zya.3_Silent_p.P166P NM_024809 NP_079085 Q96GX1 TECT2_HUMAN Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA. 167 cilium assembly|smoothened signaling pathway integral to membrane p.P167S(1) breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) TGTATCAGCCCCTTGGCCCTT 0.438000 116 58 0 0 0.000781405 0 0 C16orf89 146556 broad.mit.edu 37 16 5110350 5110350 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:5110350C>T uc010bud.3 - 2 683 c.446G>A c.(445-447)gGg>gAg p.G149E ALG1_uc002cyj.3_Intron|C16orf89_uc002cyk.4_Missense_Mutation_p.G149E NM_152459 NP_689672 Q6UX73 CP089_HUMAN Homo sapiens chromosome 16 open reading frame 89 (C16orf89), transcript variant 1, mRNA. 149 extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 12 GTCCTGGGGCCCGAACGTGGG 0.602000 20 13 0 0 0.00185496 0 0 SOHLH1 402381 broad.mit.edu 37 9 138590849 138590849 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:138590849C>T uc010nbe.3 - 1 250 c.189G>A c.(187-189)agG>agA p.R63R SOHLH1_uc004cgl.3_Silent_p.R63R NM_001101677 NP_001095147 Q5JUK2 SOLH1_HUMAN Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA. 63 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1) 12 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) ACCTGCGCTCCCTCTCGCTGA 0.697000 43 32 0 0 0.00058488 0 0 PTPRB 5787 broad.mit.edu 37 12 70988398 70988398 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:70988398C>T uc001swb.4 - 3 741 c.711G>A c.(709-711)atG>atA p.M237I PTPRB_uc010sto.2_Missense_Mutation_p.M237I|PTPRB_uc010stp.2_Missense_Mutation_p.M237I|PTPRB_uc001swc.4_Missense_Mutation_p.M455I|PTPRB_uc001swa.4_Missense_Mutation_p.M455I|PTPRB_uc001swd.4_Missense_Mutation_p.M454I|PTPRB_uc009zrr.2_Missense_Mutation_p.M334I|PTPRB_uc001swe.3_Missense_Mutation_p.M455I NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 237 Fibronectin type-III 3. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TCCCTTTATCCATTAGCATCA 0.473000 41 17 0 0 0.000566183 0 0 NKD2 85409 broad.mit.edu 37 5 1038363 1038363 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:1038363G>A uc003jbt.1 + 9 1236 c.1231G>A c.(1231-1233)Gtg>Atg p.V411M NKD2_uc010itf.1_3'UTR NM_033120 NP_149111 Q969F2 NKD2_HUMAN Homo sapiens naked cuticle homolog 2 (Drosophila) (NKD2), mRNA. 411 Wnt receptor signaling pathway|exocytosis cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1) 14 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) GCACGAGGTGGTGCGGGACCT 0.692000 4 5 0 0 0.00116845 0 0 ATP6V0D2 245972 broad.mit.edu 37 8 87163713 87163713 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:87163713G>A uc003ydp.1 + 6 904 c.835G>A c.(835-837)Gaa>Aaa p.E279K NM_152565 NP_689778 Q8N8Y2 VA0D2_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 (ATP6V0D2), mRNA. 279 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1) 27 ACCTTTATTTGAAGCTGTAGG 0.299000 24 8 0 0 0.000673444 0 0 CHD9 80205 broad.mit.edu 37 16 53357974 53357974 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:53357974C>T uc002ehb.3 + 37 8025 c.7861C>T c.(7861-7863)Ccc>Tcc p.P2621S CHD9_uc002egy.3_Missense_Mutation_p.P2605S|CHD9_uc002ehc.3_Missense_Mutation_p.P2606S|CHD9_uc002ehf.3_Missense_Mutation_p.P1719S|CHD9_uc002ehg.2_Missense_Mutation_p.P1736S|CHD9_uc010cbw.3_Missense_Mutation_p.P687S NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA. 2621 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) TCTCACTGGTCCCGTTGTGAG 0.433000 74 29 0 0 0.00058488 0 0 TINAG 27283 broad.mit.edu 37 6 54186144 54186144 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:54186144C>T uc003pcj.2 + 2 615 c.469C>T c.(469-471)Cgt>Tgt p.R157C TINAG_uc003pci.3_3'UTR|TINAG_uc010jzt.2_Intron NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA. 157 Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) ATGCCTTGTTCGTTCAGAATT 0.378000 21 15 0 0 0.000958276 0 0 C1orf210 149466 broad.mit.edu 37 1 43748510 43748510 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:43748510C>T uc001cit.4 - 2 522 c.288G>A c.(286-288)caG>caA p.Q96Q C1orf210_uc021omn.1_Silent_p.Q96Q NM_182517 NP_872323 Q8IVY1 CA210_HUMAN Homo sapiens chromosome 1 open reading frame 210 (C1orf210), transcript variant 1, mRNA. 96 integral to membrane breast(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CAGTCCCAGGCTGAATGTAAT 0.602000 72 25 0 0 0.000878237 0 0 TNRC6B 23112 broad.mit.edu 37 22 40696535 40696535 + Missense_Mutation SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:40696535C>A uc011aor.2 + 12 3996 c.3785C>A c.(3784-3786)tCt>tAt p.S1262Y TNRC6B_uc003aym.3_Missense_Mutation_p.S458Y|TNRC6B_uc003ayn.4_Missense_Mutation_p.S1152Y|TNRC6B_uc003ayo.3_Missense_Mutation_p.S1009Y NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA. 1262 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body RNA binding|nucleotide binding breast(1) 1 CCCCAGTTATCTCCTCAACAA 0.433000 42 30 6.04164e-23 2.2128e-22 0.00209593 1 0 IGSF9 57549 broad.mit.edu 37 1 159904552 159904552 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:159904552G>A uc001fur.2 - 6 932 c.734C>T c.(733-735)tCa>tTa p.S245L IGSF9_uc001fuq.2_Missense_Mutation_p.S245L|IGSF9_uc001fup.2_5'Flank NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA. 245 Ig-like 3. cell junction|integral to membrane|synapse p.S245S(1) central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GCAGGCCAATGAAACATCCTG 0.567000 57 14 0 0 0.00185496 0 0 C3orf62 375341 broad.mit.edu 37 3 49314265 49314265 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:49314265G>A uc003cwn.2 - 0 244 c.41C>T c.(40-42)tCt>tTt p.S14F C3orf62_uc003cwm.2_5'Flank NM_198562 NP_940964 Q6ZUJ4 CC062_HUMAN Homo sapiens chromosome 3 open reading frame 62 (C3orf62), mRNA. 14 breast(1)|kidney(1)|large_intestine(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TAGTTTTTCAGACATTTCTCC 0.448000 52 10 0 0 0.000978159 0 0 GOLPH3L 55204 broad.mit.edu 37 1 150667295 150667295 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:150667295C>T uc001evj.2 - 1 237 c.20G>A c.(19-21)cGg>cAg p.R7Q GOLPH3L_uc010pci.1_Missense_Mutation_p.R7Q NM_018178 NP_060648 Q9H4A5 GLP3L_HUMAN Homo sapiens golgi phosphoprotein 3-like (GOLPH3L), mRNA. 7 Golgi cisterna membrane p.R7L(2) breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 8 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) GCGACGGGCCCGGTGAGTTAA 0.393000 107 60 0 0 0.000781405 0 0 CCDC88B 283234 broad.mit.edu 37 11 64111792 64111792 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:64111792C>T uc001nzy.3 + 13 1828 c.1779C>T c.(1777-1779)ggC>ggT p.G593G CCDC88B_uc009ypo.2_Silent_p.G590G|CCDC88B_uc001nzz.1_Silent_p.G242G NM_032251 NP_115627 A6NC98 CC88B_HUMAN Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA. 593 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AGAAGGCTGGCCGTAGATCCT 0.642000 10 8 0 0 0.000442599 0 0 RGS6 9628 broad.mit.edu 37 14 73029132 73029132 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:73029132C>T uc001xna.4 + 16 1899 c.1376C>T c.(1375-1377)tCg>tTg p.S459L RGS6_uc021rvv.1_Missense_Mutation_p.S424L|RGS6_uc010ttn.2_Missense_Mutation_p.S477L|RGS6_uc021rvw.1_Intron|RGS6_uc021rvx.1_Intron|RGS6_uc021rvy.1_Intron|RGS6_uc021rvz.1_Intron|RGS6_uc001xmy.4_Missense_Mutation_p.S477L|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.S459L|RGS6_uc021rwa.1_Missense_Mutation_p.S440L|RGS6_uc021rwb.1_Missense_Mutation_p.S422L|RGS6_uc021rwc.1_Intron NM_001204423 NP_001191352 P49758 RGS6_HUMAN Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA. 459 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) CAGGGAAAGTCGCTGGCGGGC 0.647000 44 9 0 0 0.000673444 0 0 OR5D16 390144 broad.mit.edu 37 11 55606658 55606658 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:55606658C>T uc010rio.2 + 0 431 c.431C>T c.(430-432)gCc>gTc p.A144V NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA. 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) AAACTCTGTGCCATGCTGGTG 0.453000 13 15 0 0 0.000422831 0 0 PRKAG1 5571 broad.mit.edu 37 12 49397357 49397357 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:49397357G>A uc001rsy.3 - 9 831 c.725C>T c.(724-726)tCc>tTc p.S242F PRKAG1_uc010smd.2_Missense_Mutation_p.S210F|PRKAG1_uc001rsz.3_Missense_Mutation_p.S251F NM_002733 NP_001193639 P54619 AAKG1_HUMAN Homo sapiens protein kinase, AMP-activated, gamma 1 non-catalytic subunit (PRKAG1), transcript variant 1, mRNA. 242 CBS 3. cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis cytosol cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 9 ATCAAACTTGGAGTAGATGTC 0.542000 33 11 0 0 0.000978159 0 0 WDR96 80217 broad.mit.edu 37 10 105893452 105893452 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:105893452C>T uc001kxw.3 - 34 4638 c.4522G>A c.(4522-4524)Gag>Aag p.E1508K WDR96_uc009xxq.3_Missense_Mutation_p.E787K NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN Homo sapiens WD repeat domain 96 (WDR96), mRNA. 1508 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CTTTCCATCTCCATTTTCTTA 0.358000 24 16 0 0 0.000422831 0 0 CLEC4D 338339 broad.mit.edu 37 12 8671697 8671697 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:8671697G>A uc001qun.3 + 3 518 c.325G>A c.(325-327)Gaa>Aaa p.E109K NM_080387 NP_525126 Q8WXI8 CLC4D_HUMAN Homo sapiens C-type lectin domain family 4, member D (CLEC4D), mRNA. 109 C-type lectin. innate immune response integral to membrane sugar binding large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Lung SC(5;0.184) GGCTGAGAGTGAAAGGAACTG 0.512000 18 17 0 0 0.000566183 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766066 77766066 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:77766066G>A uc003yau.2 + 9 7296 c.6909G>A c.(6907-6909)cgG>cgA p.R2303R ZFHX4_uc003yaw.1_Silent_p.R2258R NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 2258 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTAATGAACGGTACATTCGAA 0.383000 HNSCC(33;0.089) 21 31 0 0 0.00127121 0 0 XIRP2 129446 broad.mit.edu 37 2 168105146 168105146 + Missense_Mutation SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:168105146A>T uc002udx.3 + 8 7333 c.7244A>T c.(7243-7245)aAa>aTa p.K2415I XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.K2240I|XIRP2_uc010fpq.3_Missense_Mutation_p.K2193I|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2240 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 ATAACAGGAAAAACCGGTGTG 0.438000 55 12 0 0 0.00136819 0 0 BPIFA3 128861 broad.mit.edu 37 20 31812911 31812911 + Missense_Mutation SNP G A A rs150349800 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:31812911G>A uc002wyr.3 + 3 602 c.394G>A c.(394-396)Gat>Aat p.D132N BPIFA3_uc002wys.3_Missense_Mutation_p.D96N NM_178466 NP_848561 Q9BQP9 SPLC3_HUMAN Homo sapiens BPI fold containing family A, member 3 (BPIFA3), transcript variant 1, mRNA. 132 extracellular region lipid binding CAGGTCCTTCGATAACAACAT 0.507000 126 23 0 0 0.00047179 0 0 BUD13 84811 broad.mit.edu 37 11 116628539 116628539 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:116628539C>T uc001ppn.3 - 7 1661 c.1627G>A c.(1627-1629)Gac>Aac p.D543N BUD13_uc001ppo.3_Missense_Mutation_p.D409N NM_032725 NP_116114 Q9BRD0 BUD13_HUMAN Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA. 543 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1) 22 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) GCCATAGGGTCCCCCTCTCTT 0.453000 251 191 0 0 0.000781405 0 0 XKR9 389668 broad.mit.edu 37 8 71646610 71646610 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:71646610G>A uc003xyq.3 + 4 1607 c.1073G>A c.(1072-1074)gGa>gAa p.G358E XKR9_uc010lzd.3_Missense_Mutation_p.G226E|XKR9_uc010lze.3_Missense_Mutation_p.G358E NM_001011720 NP_001011720 Q5GH70 XKR9_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA. 358 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) GAAATTGATGGAAAACCAGTT 0.279000 22 11 0 0 0.000308642 0 0 THSD7A 221981 broad.mit.edu 37 7 11676263 11676263 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:11676263G>A uc021zzo.1 - 1 768 c.516C>T c.(514-516)atC>atT p.I172I THSD7A_uc021zzn.1_Silent_p.I172I NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA. 172 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ACTCACAGATGATATCCTCCG 0.498000 HNSCC(18;0.044) 53 32 0 0 0.00283554 0 0 FAT2 2196 broad.mit.edu 37 5 150946634 150946634 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:150946634G>A uc003lue.4 - 0 1872 c.1859C>T c.(1858-1860)tCc>tTc p.S620F FAT2_uc010jhx.1_Missense_Mutation_p.S620F NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 620 Cadherin 5. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCGTTTGAGGGATATCACTCC 0.418000 25 41 0 0 0.00148497 0 0 GRIK4 2900 broad.mit.edu 37 11 120833374 120833374 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:120833374G>A uc001pxn.2 + 17 2537 c.2250G>A c.(2248-2250)ggG>ggA p.G750G GRIK4_uc009zav.1_Silent_p.G750G|GRIK4_uc009zaw.1_Silent_p.G750G|GRIK4_uc009zax.1_Silent_p.G750G NM_014619 NP_055434 Q16099 GRIK4_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA. 750 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) AGGGCTATGGGATTGGCATGC 0.537000 31 14 0 0 0.00152264 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870703 51870703 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:51870703G>A uc002xwo.3 + 1 1593 c.706G>A c.(706-708)Gaa>Aaa p.E236K TSHZ2_uc021wex.1_Missense_Mutation_p.E233K NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 236 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) GCACATGAATGAAACGGGCCA 0.532000 43 11 0 0 0.000978159 0 0 POM121L12 285877 broad.mit.edu 37 7 53103888 53103888 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:53103888G>A uc003tpz.3 + 0 540 c.524G>A c.(523-525)cGg>cAg p.R175Q NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 175 p.R175W(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCCTGCACCCGGGAGACTCTG 0.721000 39 9 0 0 0.000274275 0 0 XPNPEP3 63929 broad.mit.edu 37 22 41322393 41322393 + Missense_Mutation SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:41322393C>A uc003azh.3 + 9 1579 c.1478C>A c.(1477-1479)cCc>cAc p.P493H XPNPEP3_uc003azi.3_Missense_Mutation_p.P414H|XPNPEP3_uc011aoy.1_Non-coding_Transcript NM_022098 NP_071381 Q9NQH7 XPP3_HUMAN Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 3, putative (XPNPEP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 493 cellular process mitochondrion aminopeptidase activity|manganese ion binding|metallopeptidase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 17 GCAGACTGTCCCAAAGAGATG 0.502000 523 10 0.000673444 0.00243932 0.000673444 1 0 KIF13A 63971 broad.mit.edu 37 6 17837221 17837222 + Missense_Mutation DNP CG AT AT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:17837221_17837222CG>AT uc003ncg.4 - 10 1202_1203 c.1042_1043CG>AT c.(1042-1044)cga>ATa p.R348I KIF13A_uc003ncf.3_Missense_Mutation_p.R348I|KIF13A_uc003nch.4_Missense_Mutation_p.R348I|KIF13A_uc003nci.4_Missense_Mutation_p.R348I|KIF13A_uc003ncj.3_Missense_Mutation_p.R24I NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA. 348 Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) CCTTTTGGCTCGGTCTGCATAT 0.515000 305 8 0 0 6.4e-05 0 0 TTN 7273 broad.mit.edu 37 2 179647612 179647612 + Silent SNP C T T rs147603843 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179647612C>T uc021vsy.1 - 17 3246 c.3021G>A c.(3019-3021)gcG>gcA p.A1007A TTN_uc021vsz.1_Silent_p.A961A|TTN_uc021vta.1_Silent_p.A961A|TTN_uc021vtb.1_Silent_p.A961A|TTN_uc002unb.2_Silent_p.A1007A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 1007 Ig-like 3. 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) CGCTGTCTTCCGCAAATGCTT 0.502000 25 22 0 0 0.00152264 0 0 TECPR2 9895 broad.mit.edu 37 14 102843242 102843242 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:102843242C>T uc001ylw.2 + 1 410 c.184C>T c.(184-186)Cgg>Tgg p.R62W TECPR2_uc010txw.2_Missense_Mutation_p.R62W|TECPR2_uc010awl.3_Missense_Mutation_p.R62W|TECPR2_uc010txx.2_Intron NM_014844 NP_055659 O15040 TCPR2_HUMAN Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA. 62 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 TCTGTACTGCCGGCACCTCAA 0.557000 32 8 0 0 0.000442599 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41742086 41742086 + Silent SNP C T T rs149401669 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:41742086C>T uc003azw.3 + 13 1755 c.1539C>T c.(1537-1539)acC>acT p.T513T NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA. 529 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 ACGTGTGGACCGAGGAGCGGA 0.592000 124 181 0 0 0.000781405 0 0 DNAH8 1769 broad.mit.edu 37 6 38759333 38759333 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:38759333C>T uc021yzh.1 + 20 2893 c.2784C>T c.(2782-2784)atC>atT p.I928I DNAH8_uc003ooe.2_Silent_p.I711I 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 CCTTGTAGATCAGTGACTTGT 0.348000 16 16 0 0 0.000308642 0 0 TINAG 27283 broad.mit.edu 37 6 54254608 54254608 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:54254608G>A uc003pcj.2 + 10 1462 c.1316G>A c.(1315-1317)gGa>gAa p.G439E TINAG_uc010jzt.2_Non-coding_Transcript NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA. 439 Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) AATTCCTGGGGAAAGTCATGG 0.393000 25 23 0 0 0.001512 0 0 GOLGB1 2804 broad.mit.edu 37 3 121417610 121417610 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:121417610C>T uc010hrc.3 - 12 1886 c.1760G>A c.(1759-1761)gGa>gAa p.G587E GOLGB1_uc003eei.4_Missense_Mutation_p.G582E|GOLGB1_uc003eej.4_Missense_Mutation_p.G548E|GOLGB1_uc021xcy.1_Missense_Mutation_p.G507E|GOLGB1_uc011bjm.1_Missense_Mutation_p.G468E|GOLGB1_uc010hrd.1_Missense_Mutation_p.G546E NM_004487 NP_004478 Q14789 GOGB1_HUMAN Homo sapiens golgin B1 (GOLGB1), mRNA. 582 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) AGCCCTTTTTCCCTGGAGCTG 0.358000 39 12 0 0 0.00136819 0 0 SEC11C 90701 broad.mit.edu 37 18 56819910 56819910 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:56819910C>T uc002lht.3 + 2 396 c.340C>T c.(340-342)Cat>Tat p.H114Y SEC11C_uc010dpo.1_Missense_Mutation_p.H114Y|SEC11C_uc010xej.1_Missense_Mutation_p.H114Y NM_033280 NP_150596 Q9BY50 SC11C_HUMAN Homo sapiens SEC11 homolog C (S. cerevisiae) (SEC11C), mRNA. 114 energy reserve metabolic process|regulation of insulin secretion|signal peptide processing endoplasmic reticulum membrane|integral to membrane|microsome serine-type peptidase activity endometrium(1)|large_intestine(4)|liver(2)|lung(2) 9 Colorectal(73;0.175) AATCAAAGTTCATGAAAAGTA 0.343000 89 23 0 0 0.00047179 0 0 CACNA1C 775 broad.mit.edu 37 12 2794921 2794921 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:2794921G>A uc009zdu.1 + 46 6155 c.5842G>A c.(5842-5844)Gaa>Aaa p.E1948K CACNA1C_uc001qkc.2_Missense_Mutation_p.E1884K|CACNA1C_uc001qjz.2_Missense_Mutation_p.E1865K|CACNA1C_uc001qkd.2_Missense_Mutation_p.E1884K|CACNA1C_uc001qke.2_Missense_Mutation_p.E1854K|CACNA1C_uc001qkf.2_Missense_Mutation_p.E1873K|CACNA1C_uc009zdw.1_Missense_Mutation_p.E1906K|CACNA1C_uc001qkg.2_Missense_Mutation_p.E1871K|CACNA1C_uc001qkh.2_Missense_Mutation_p.E1873K|CACNA1C_uc001qkl.2_Missense_Mutation_p.E1913K|CACNA1C_uc001qkj.2_Missense_Mutation_p.E1900K|CACNA1C_uc001qkk.2_Missense_Mutation_p.E1865K|CACNA1C_uc001qkn.2_Missense_Mutation_p.E1865K|CACNA1C_uc001qkm.2_Missense_Mutation_p.E1925K|CACNA1C_uc001qko.2_Missense_Mutation_p.E1885K|CACNA1C_uc001qkp.2_Missense_Mutation_p.E1865K|CACNA1C_uc001qkq.2_Missense_Mutation_p.E1893K|CACNA1C_uc001qku.2_Missense_Mutation_p.E1900K|CACNA1C_uc001qkr.2_Missense_Mutation_p.E1882K|CACNA1C_uc001qks.2_Missense_Mutation_p.E1865K|CACNA1C_uc001qkt.2_Missense_Mutation_p.E1884K|CACNA1C_uc009zdv.1_Missense_Mutation_p.E1862K|CACNA1C_uc001qkb.2_Missense_Mutation_p.E1865K|CACNA1C_uc001qki.1_Missense_Mutation_p.E1672K|CACNA1C_uc010sea.1_Missense_Mutation_p.E556K|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.E183K NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 1948 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity p.E1913K(2)|p.E1906K(2)|p.E1978K(2)|p.E1900K(2)|p.E1400K(2) NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CCAGGATGACGAAAATCGGCA 0.592000 22 4 0 0 0.000602214 0 0 LTN1 26046 broad.mit.edu 37 21 30308901 30308901 + Missense_Mutation SNP G T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:30308901G>T uc002ymr.2 - 25 4752 c.4739C>A c.(4738-4740)cCa>cAa p.P1580Q NM_015565 NP_056380 O94822 LTN1_HUMAN Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA. 1534 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 GTCCTTATTTGGGACCTCAAC 0.393000 315 10 0.000673444 0.00243932 0.000673444 1 0 SLC12A3 6559 broad.mit.edu 37 16 56947280 56947280 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:56947280G>A uc002ekd.4 + 25 3085 c.3056G>A c.(3055-3057)gGa>gAa p.G1019E SLC12A3_uc010ccm.3_Missense_Mutation_p.G1010E|SLC12A3_uc010ccn.3_Missense_Mutation_p.G1018E NM_000339 NP_000330 P55017 S12A3_HUMAN Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA. 1010 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) CTGATCCGAGGAAACCAGGAA 0.552000 82 39 0 0 0.00222228 0 0 ABHD13 84945 broad.mit.edu 37 13 108881849 108881849 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:108881849G>A uc001vqq.3 + 1 548 c.283G>A c.(283-285)Gat>Aat p.D95N ABHD13_uc021rml.1_Missense_Mutation_p.D95N NM_032859 NP_116248 Q7L211 ABHDD_HUMAN Homo sapiens abhydrolase domain containing 13 (ABHD13), mRNA. 95 integral to membrane hydrolase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) CAGAACCAAAGATGGAATACG 0.393000 32 13 0 0 0.00244969 0 0 GLRB 2743 broad.mit.edu 37 4 158060009 158060009 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:158060009C>T uc003ipj.2 + 6 861 c.659C>T c.(658-660)cCt>cTt p.P220L GLRB_uc021xtp.1_Missense_Mutation_p.P220L|GLRB_uc021xtq.1_Missense_Mutation_p.P220L NM_000824 NP_001159532 P48167 GLRB_HUMAN Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA. 220 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) TCAGGAGATCCTGTGCAATTA 0.289000 21 35 0 0 0.00285205 0 0 BAGE 574 broad.mit.edu 37 21 11020917 11020917 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:11020917C>T uc002yiu.1 - 9 1688 c.1488_splice c.e9-1 TPTE_uc002yis.1_Splice_Site|BAGE_uc002yit.1_Splice_Site NM_182484 NP_872290 Q13072 BAGE1_HUMAN Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA. extracellular region Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACACACATATCCTGAAGTTAA 0.358000 135 27 0 0 0.00209593 0 0 KSR1 8844 broad.mit.edu 37 17 25928939 25928939 + Missense_Mutation SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:25928939T>C uc010crg.3 + 11 1562 c.1117T>C c.(1117-1119)Tgg>Cgg p.W373R KSR1_uc002gzj.1_Non-coding_Transcript|KSR1_uc002gzm.3_Intron NM_014238 NP_055053 Q8IVT5 KSR1_HUMAN Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA. 509 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) TGGCCATTGCTGGAAATGCCT 0.443000 OREG0024261 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 9 0 0 0.000673444 0 0 SCMH1 22955 broad.mit.edu 37 1 41494270 41494270 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:41494270G>A uc001cgo.3 - 14 2212 c.1843C>T c.(1843-1845)Ctg>Ttg p.L615L SCMH1_uc010ojr.2_Silent_p.L435L|SCMH1_uc001cgp.3_Silent_p.L554L|SCMH1_uc001cgr.3_Silent_p.L532L|SCMH1_uc001cgq.3_Silent_p.L546L|SCMH1_uc001cgs.3_Silent_p.L603L|SCMH1_uc001cgt.3_Silent_p.L532L|SCMH1_uc010ojs.1_Non-coding_Transcript|LOC100507178_uc021omd.1_Non-coding_Transcript NM_001031694 NP_001165692 Q96GD3 SCMH1_HUMAN Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA. 615 SAM. anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) TTGCGAAACAGGTCAGCGTGG 0.587000 109 32 0 0 0.00058488 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47534324 47534324 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:47534324C>T uc001cqu.1 + 1 211 c.208C>T c.(208-210)Cat>Tat p.H70Y NM_178134 NP_835235 Q86W10 CP4Z1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA. 70 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 TGAGGTGTATCATAAGCTGAT 0.463000 99 23 0 0 0.00278032 0 0 NOD2 64127 broad.mit.edu 37 16 50745455 50745455 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:50745455C>T uc002egm.1 + 3 1738 c.1633C>T c.(1633-1635)Ccc>Tcc p.P545S NOD2_uc021tia.1_Missense_Mutation_p.P377S|NOD2_uc010cbk.1_Missense_Mutation_p.P518S|NOD2_uc002egl.1_Missense_Mutation_p.P323S|NOD2_uc010cbl.1_Missense_Mutation_p.P323S|NOD2_uc010cbm.1_Missense_Mutation_p.P323S|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank NM_022162 NP_071445 Q9HC29 NOD2_HUMAN Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA. 545 NACHT. JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) GGGCCGCCTCCCCACCCTCCT 0.622000 15 22 0 0 0.000586117 0 0 VCAN 1462 broad.mit.edu 37 5 82834193 82834193 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:82834193C>T uc003kii.3 + 7 5727 c.5371C>T c.(5371-5373)Cct>Tct p.P1791S VCAN_uc003kij.3_Missense_Mutation_p.P804S|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.P455S NM_004385 NP_004376 P13611 CSPG2_HUMAN Homo sapiens versican (VCAN), transcript variant 1, mRNA. 1791 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AGATTCTACTCCTGTCTTTAC 0.433000 21 9 0 0 0.000673444 0 0 SMC2 10592 broad.mit.edu 37 9 106876340 106876340 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:106876340C>T uc004bbv.3 + 11 1798 c.1510C>T c.(1510-1512)Ccc>Tcc p.P504S SMC2_uc004bbu.1_Missense_Mutation_p.P504S|SMC2_uc004bbw.3_Missense_Mutation_p.P504S|SMC2_uc011lvl.2_Missense_Mutation_p.P504S|SMC2_uc004bbx.3_Missense_Mutation_p.P504S NM_001042551 NP_006435 O95347 SMC2_HUMAN Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA. 504 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 AGCCAGATTTCCCAATCTTCG 0.343000 131 58 0 0 0.000781405 0 0 LRRC37A2 474170 broad.mit.edu 37 17 45127354 45127354 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:45127354G>A uc010wkj.1 + 1 906 c.552G>A c.(550-552)aaG>aaA p.K184K ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript A6NM11 L37A2_HUMAN Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973. 1320 integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2) 15 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) GAACACCCAAGGTCAAAAAGA 0.433000 457 58 0 0 0.000781405 0 0 ZDHHC7 55625 broad.mit.edu 37 16 85010019 85010019 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:85010019G>A uc010voi.1 - 8 1321 c.968C>T c.(967-969)cCc>cTc p.P323L ZDHHC7_uc002fiq.2_Missense_Mutation_p.P286L|ZDHHC7_uc002fir.1_Non-coding_Transcript NM_001145548 NP_001139020 Q9NXF8 ZDHC7_HUMAN Homo sapiens zinc finger, DHHC-type containing 7 (ZDHHC7), transcript variant 1, mRNA. 286 integral to membrane acyltransferase activity|protein binding|zinc ion binding large_intestine(6)|lung(4) 10 GCCCACAAAGGGATTCATCCA 0.577000 30 46 0 0 0.000781405 0 0 SLC4A8 9498 broad.mit.edu 37 12 51863538 51863539 + Missense_Mutation DNP GG AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:51863538_51863539GG>AA uc001rys.1 + 11 1668_1669 c.1490_1491GG>AA c.(1489-1491)ggg>gAA p.G497E SLC4A8_uc010sni.2_Missense_Mutation_p.G444E|SLC4A8_uc001rym.3_Missense_Mutation_p.G444E|SLC4A8_uc001ryn.3_Missense_Mutation_p.G444E|SLC4A8_uc001ryo.2_Missense_Mutation_p.G444E|SLC4A8_uc010snj.2_Missense_Mutation_p.G524E|SLC4A8_uc001ryq.4_Missense_Mutation_p.G497E|SLC4A8_uc001ryr.3_Missense_Mutation_p.G497E|SLC4A8_uc010snk.2_Missense_Mutation_p.G444E NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA. 497 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) ATCACCTTTGGGGGACTGCTTG 0.505000 75 29 0 0 6.4e-05 0 0 FMN2 56776 broad.mit.edu 37 1 240255747 240255747 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:240255747C>T uc010pye.2 + 0 563 c.338C>T c.(337-339)tCc>tTc p.S113F FMN2_uc010pyd.2_Missense_Mutation_p.S113F NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 113 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AGCGCTCACTCCCTGCTCACC 0.647000 23 5 0 0 0.000602214 0 0 OR10H3 26532 broad.mit.edu 37 19 15852289 15852289 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:15852289C>T uc010xoq.2 + 0 87 c.87C>T c.(85-87)ttC>ttT p.F29F NM_013938 NP_039226 O60404 O10H3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA. 29 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 CTGTCTTGTTCCTGCTGTACC 0.493000 185 60 0 0 0.000781405 0 0 FAM13B 51306 broad.mit.edu 37 5 137289982 137289982 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:137289982G>A uc003lbz.2 - 13 2059 c.1525C>T c.(1525-1527)Cat>Tat p.H509Y FAM13B_uc003lcb.2_Missense_Mutation_p.H413Y|FAM13B_uc003lca.2_Missense_Mutation_p.H509Y NM_016603 NP_057687 Q9NYF5 FA13B_HUMAN Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA. 509 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(4)|kidney(2)|lung(5) 11 AAGGGGTGATGATTCATTCTT 0.448000 42 14 0 0 0.00244969 0 0 MYH8 4626 broad.mit.edu 37 17 10317277 10317277 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:10317277C>T uc002gmm.2 - 11 1184 c.1089G>A c.(1087-1089)ggG>ggA p.G363G AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 363 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 ATTTCATGTTCCCATAATGCA 0.448000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 51 48 0 0 0.000781405 0 0 ASB15 142685 broad.mit.edu 37 7 123257713 123257713 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:123257713G>A uc003vku.1 + 6 665 c.373G>A c.(373-375)Gaa>Aaa p.E125K ASB15_uc003vkv.1_Missense_Mutation_p.E125K|ASB15_uc003vkw.1_Missense_Mutation_p.E125K NM_080928 NP_563616 Q8WXK1 ASB15_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA. 125 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 TGGTCTGGTGGAAAATGTAAG 0.408000 73 25 0 0 0.000586117 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77913437 77913437 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:77913437G>A uc022bzi.1 - 0 481 c.481C>T c.(481-483)Ccc>Tcc p.P161S ZCCHC5_uc004edc.1_Missense_Mutation_p.P161S NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA. 161 Pro-rich. nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 ATATTTGGGGGATCCTGGGGT 0.567000 1 31 0 0 0.00283554 0 0 ZDBF2 57683 broad.mit.edu 37 2 207173591 207173591 + Missense_Mutation SNP T G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:207173591T>G uc002vbp.2 + 4 4589 c.4339T>G c.(4339-4341)Tgt>Ggt p.C1447G NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA. 1447 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 AAATAAGAACTGTGAAGTCTG 0.358000 30 4 0 0 0.00024832 0 0 MAGI1 9223 broad.mit.edu 37 3 65350400 65350400 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:65350400C>T uc003dmn.3 - 20 3817 c.3291_splice c.e20-1 p.R1097_splice MAGI1_uc003dmm.3_Splice_Site_p.R1125_splice|MAGI1_uc003dmo.3_Splice_Site_p.R1126_splice|MAGI1_uc003dmp.3_Splice_Site_p.R1030_splice NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA. 1126 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TGGTGGTATTCCTGCCAAAGT 0.393000 47 29 0 0 0.00058488 0 0 ZNF606 80095 broad.mit.edu 37 19 58500040 58500040 + Nonsense_Mutation SNP C T T rs151102847 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:58500040C>T uc002qqw.3 - 4 845 c.227G>A c.(226-228)tGg>tAg p.W76* ZNF606_uc010yhp.2_5'UTR NM_025027 NP_079303 Q8WXB4 ZN606_HUMAN Homo sapiens zinc finger protein 606 (ZNF606), mRNA. 76 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 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;0.0168) CAGCTGCCCCCACTCTTCTTG 0.547000 167 48 0 0 0.000781405 0 0 SORCS3 22986 broad.mit.edu 37 10 107022168 107022168 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:107022168G>A uc001kyi.1 + 25 3750 c.3523G>A c.(3523-3525)Gaa>Aaa p.E1175K NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 1175 integral to membrane neuropeptide receptor activity p.E1175K(2) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GAGCCAAAGTGAAAACGCCCC 0.507000 19 10 0 0 0.000978159 0 0 ZNF446 55663 broad.mit.edu 37 19 58988735 58988735 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:58988735G>A uc002qsz.3 + 1 267 c.150G>A c.(148-150)ctG>ctA p.L50L ZNF446_uc002qta.3_Silent_p.L50L|ZNF446_uc010eur.3_Silent_p.L50L NM_017908 NP_060378 Q9NWS9 ZN446_HUMAN Homo sapiens zinc finger protein 446 (ZNF446), mRNA. 50 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) TGCGTGAGCTGTGTTGCCAGT 0.657000 46 51 0 0 0.000781405 0 0 DOM3Z 1797 broad.mit.edu 37 6 31937781 31937781 + Missense_Mutation SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:31937781C>A uc003nyp.1 - 6 1397 c.1064G>T c.(1063-1065)tGg>tTg p.W355L DOM3Z_uc003nyq.1_Missense_Mutation_p.W96L|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank NM_005510 NP_005501 O77932 DOM3Z_HUMAN Homo sapiens dom-3 homolog Z (C. elegans) (DOM3Z), mRNA. 355 identical protein binding|metal ion binding|nucleotide binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 7 GCCAGGCTCCCAAGAGAAGAG 0.587000 226 12 0.00010058 0.000365618 0.00136819 1 0 EVPL 2125 broad.mit.edu 37 17 74015056 74015056 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:74015056C>T uc010wss.1 - 10 1451 c.1223G>A c.(1222-1224)cGa>cAa p.R408Q EVPL_uc002jqi.2_Missense_Mutation_p.R408Q|EVPL_uc010wst.1_5'UTR NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 408 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GGGGTTTCTTCGCTGTGGCAG 0.682000 30 10 0 0 0.000673444 0 0 MYOG 4656 broad.mit.edu 37 1 203054895 203054895 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:203054895G>A uc001gzd.3 - 0 483 c.195C>T c.(193-195)tgC>tgT p.C65C NM_002479 NP_002470 P15173 MYOG_HUMAN Homo sapiens myogenin (myogenic factor 4) (MYOG), mRNA. 65 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1) 12 CCCACGGCAGGCACTGGCCTG 0.682000 107 25 0 0 0.00127121 0 0 PTCD2 79810 broad.mit.edu 37 5 71627109 71627109 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:71627109C>T uc003kcb.3 + 3 385 c.375C>T c.(373-375)ttC>ttT p.F125F PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.3_5'UTR|PTCD2_uc011csg.2_Intron|PTCD2_uc011csh.2_Intron|PTCD2_uc003kcd.3_Non-coding_Transcript NM_024754 NP_079030 Q8WV60 PTCD2_HUMAN Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA. 125 breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1) 11 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.73e-53) ACAAAAATTTCACTTTGGGGG 0.428000 97 46 0 0 0.000781405 0 0 RGS7BP 401190 broad.mit.edu 37 5 63890555 63890555 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:63890555G>A uc003jtj.3 + 3 482 c.482G>A c.(481-483)gGa>gAa p.G161E RGS7BP_uc011cqu.2_Missense_Mutation_p.G28E NM_001029875 NP_001025046 Q6MZT1 R7BP_HUMAN Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA. 161 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) CCTGGCGGGGGAACCAAGAGT 0.478000 34 12 0 0 0.000422831 0 0 ZNF429 353088 broad.mit.edu 37 19 21720110 21720110 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:21720110C>T uc002nqd.1 + 3 1392 c.1255C>T c.(1255-1257)Cat>Tat p.H419Y ZNF429_uc010ecu.2_Intron NM_001001415 NP_001001415 Q86V71 ZN429_HUMAN Homo sapiens zinc finger protein 429 (ZNF429), mRNA. 419 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 CAAGAAAATTCATACTGGAGA 0.353000 35 12 0 0 0.00136819 0 0 MUC16 94025 broad.mit.edu 37 19 9071966 9071966 + Silent SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9071966C>A uc002mkp.3 - 2 15684 c.15480G>T c.(15478-15480)gtG>gtT p.V5160V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5162 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 CTGGATCTCCCACAGTGGTGG 0.478000 268 9 3.86212e-05 0.000140492 0.000673444 1 0 CDKAL1 54901 broad.mit.edu 37 6 21108659 21108660 + Missense_Mutation DNP CG AT AT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:21108659_21108660CG>AT uc003ndd.2 + 12 1431_1432 c.1264_1265CG>AT c.(1264-1266)cgg>ATg p.R422M CDKAL1_uc003nde.2_Intron|CDKAL1_uc021ymk.1_Missense_Mutation_p.R422M|CDKAL1_uc003ndf.2_Missense_Mutation_p.R18M NM_017774 NP_060244 Q5VV42 CDKAL_HUMAN Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA. 422 RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity p.R422L(2) breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1) 29 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) AGATCTTTCTCGGGTGTTTCAT 0.292000 515 11 0 0 6.4e-05 0 0 LAMC3 10319 broad.mit.edu 37 9 133920952 133920952 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:133920952C>T uc004caa.1 + 7 1522 c.1424C>T c.(1423-1425)gCt>gTt p.A475V NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN Homo sapiens laminin, gamma 3 (LAMC3), mRNA. 475 Laminin EGF-like 4. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CACAATCCAGCTGGCTGCAGC 0.607000 31 26 0 0 0.000878237 0 0 SOWAHB 345079 broad.mit.edu 37 4 77816833 77816833 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:77816833C>T uc003hki.3 - 0 2170 c.2170G>A c.(2170-2172)Gga>Aga p.G724R NM_001029870 NP_001025041 A6NEL2 ANR56_HUMAN Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA. 724 CGAGGAGCTCCCAACAGCTGC 0.502000 159 89 0 0 0.000781405 0 0 FNDC1 84624 broad.mit.edu 37 6 159660606 159660606 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:159660606G>A uc010kjv.3 + 13 4438 c.4238G>A c.(4237-4239)cGa>cAa p.R1413Q FNDC1_uc010kjw.1_Missense_Mutation_p.R1298Q NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA. 1413 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) GGGCAGGGGCGACATGGCACA 0.532000 8 6 0 0 0.00198382 0 0 KIAA1217 56243 broad.mit.edu 37 10 24834803 24834803 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:24834803C>T uc001iru.4 + 20 5785 c.5382C>T c.(5380-5382)tcC>tcT p.S1794S KIAA1217_uc001irs.3_Silent_p.S1115S|KIAA1217_uc001irt.4_Silent_p.S1160S|KIAA1217_uc010qcy.2_Silent_p.S1225S|KIAA1217_uc010qcz.2_Silent_p.S1200S|KIAA1217_uc001irw.3_3'UTR|KIAA1217_uc001irz.3_3'UTR|KIAA1217_uc001irx.3_3'UTR|KIAA1217_uc001iry.3_3'UTR NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 1794 Ser-rich. 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 AGCCTACTTCCCCCTCCTTAC 0.488000 40 26 0 0 0.000586117 0 0 OR52M1 119772 broad.mit.edu 37 11 4566771 4566771 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:4566771C>T uc010qyf.2 + 0 351 c.351C>T c.(349-351)ttC>ttT p.F117F NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA. 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGGCATCTTCCTTGCCATGG 0.522000 23 27 0 0 0.00106085 0 0 SNORD109B 338429 broad.mit.edu 37 15 25287125 25287125 + RNA SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:25287125C>T uc001yxf.1 + 0 c.5C>T Homo sapiens small nucleolar RNA, C/D box 109B (SNORD109B), small nucleolar RNA. TTGTTTGGATCGATGATGAGA 0.428000 25 35 0 0 0.00222228 0 0 C1orf173 127254 broad.mit.edu 37 1 75065431 75065431 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:75065431C>T uc001dgg.3 - 10 1893 c.1674G>A c.(1672-1674)gtG>gtA p.V558V CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Silent_p.V352V NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 558 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCTCATCTTTCACATTGTCAC 0.418000 20 29 0 0 0.00127121 0 0 NOTCH3 4854 broad.mit.edu 37 19 15271653 15271653 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:15271653G>A uc002nan.3 - 32 6862 c.6786C>T c.(6784-6786)tcC>tcT p.S2262S NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Homo sapiens notch 3 (NOTCH3), mRNA. 2262 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.S2262C(1) breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) AGTCTGAGAGGGAGGGAGGTG 0.677000 50 15 0 0 0.000422831 0 0 THSD4 79875 broad.mit.edu 37 15 72021046 72021046 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:72021046G>A uc002atb.1 + 7 1595 c.1516G>A c.(1516-1518)Gag>Aag p.E506K THSD4_uc002atd.1_Missense_Mutation_p.E180K|THSD4_uc010ukg.1_Missense_Mutation_p.E146K|THSD4_uc002ate.2_Missense_Mutation_p.E146K NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA. 506 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TCCCACCAACGAGATCTTGGA 0.458000 89 32 0 0 0.00283554 0 0 SGPP2 130367 broad.mit.edu 37 2 223423285 223423285 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:223423285G>A uc010zlo.2 + 4 868 c.868G>A c.(868-870)Gga>Aga p.G290R SGPP2_uc010zlp.2_Missense_Mutation_p.G162R NM_152386 NP_689599 Q8IWX5 SGPP2_HUMAN Homo sapiens sphingosine-1-phosphate phosphatase 2 (SGPP2), mRNA. 290 sphingosine metabolic process endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 18 Renal(207;0.0376) Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143) AGTGACCATAGGATTCTGGAT 0.502000 71 20 0 0 0.00229938 0 0 PHGDH 26227 broad.mit.edu 37 1 120279790 120279791 + Missense_Mutation DNP CC AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:120279790_120279791CC>AA uc001ehz.3 + 7 1073_1074 c.846_847CC>AA c.(844-849)ccccac>ccAAac p.H283N PHGDH_uc009whm.3_Missense_Mutation_p.H181N|PHGDH_uc001eib.3_Missense_Mutation_p.H249N NM_006623 NP_006614 O43175 SERA_HUMAN Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA. 283 L-serine biosynthetic process|brain development NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 18 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) TCAGCTGTCCCCACCTGGGTGC 0.594000 817 17 0 0 6.4e-05 0 0 FGFR1 2260 broad.mit.edu 37 8 38287320 38287320 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:38287320G>A uc022aua.1 - 2 1180 c.238C>T c.(238-240)Cgc>Tgc p.R80C FGFR1_uc011lbu.2_Missense_Mutation_p.R113C|FGFR1_uc011lbv.2_Missense_Mutation_p.R80C|FGFR1_uc011lbw.2_Intron|FGFR1_uc003xlp.3_Missense_Mutation_p.R80C|FGFR1_uc022aub.1_Missense_Mutation_p.R80C|FGFR1_uc022auc.1_Intron|FGFR1_uc022aud.1_Intron|FGFR1_uc010lwk.3_Missense_Mutation_p.R72C|FGFR1_uc011lbr.2_5'Flank|FGFR1_uc011lbs.2_Intron|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbx.1_Intron|FGFR1_uc003xlv.3_Intron|FGFR1_uc003xlu.3_Intron|FGFR1_uc003xlw.1_Non-coding_Transcript NM_023110 NP_075598 P11362 FGFR1_HUMAN Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA. 80 Ig-like C2-type 1. MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) CCTGTGATGCGGGTGCGGTTG 0.667000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 10 5 0 0 0.00116845 0 0 IVL 3713 broad.mit.edu 37 1 152883861 152883861 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:152883861C>T uc021ozl.1 + 0 1588 c.1588C>T c.(1588-1590)Ctg>Ttg p.L530L IVL_uc001fau.3_Silent_p.L530L NM_005547 NP_005538 P07476 INVO_HUMAN Homo sapiens involucrin (IVL), mRNA. 530 39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD]. isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ggaggggcagctgaaggacct 0.597000 13 15 0 0 0.00244969 0 0 OR5AU1 390445 broad.mit.edu 37 14 21623645 21623645 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:21623645G>A uc010tlp.2 - 0 540 c.540C>T c.(538-540)ccC>ccT p.P180P NM_001004731 NP_001004731 Q8NGC0 O5AU1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA. 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) AGTAGAGCAGGGGGTTACAAA 0.517000 18 8 0 0 0.000157383 0 0 GLRA1 2741 broad.mit.edu 37 5 151304061 151304061 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:151304061A>G uc003lut.3 - 0 337 c.50T>C c.(49-51)tTc>tCc p.F17S GLRA1_uc003lur.3_Missense_Mutation_p.F17S|GLRA1_uc003lus.3_5'UTR NM_001146040 NP_001139512 P23415 GLRA1_HUMAN Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA. 17 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ATACCTGAAGAATACAATGGT 0.458000 46 19 0 0 0.00047179 0 0 CAPN11 11131 broad.mit.edu 37 6 44137222 44137222 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:44137222G>A uc003owt.1 + 2 331 c.293G>A c.(292-294)gGc>gAc p.G98D NM_007058 NP_008989 Q9UMQ6 CAN11_HUMAN Homo sapiens calpain 11 (CAPN11), mRNA. 98 Calpain catalytic. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 36 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AAGGACCTGGGCCCCAACTCC 0.572000 6 6 0 0 0.00116845 0 0 SERPINB5 5268 broad.mit.edu 37 18 61170677 61170677 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:61170677C>T uc002liz.4 + 6 992 c.850C>T c.(850-852)Ccc>Tcc p.P284S NM_002639 NP_002630 P36952 SPB5_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 5 (SERPINB5), mRNA. 284 cellular component movement|regulation of proteolysis cytoplasm|extracellular space protein binding|serine-type endopeptidase inhibitor activity kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 12 GATGATTGATCCCAAGGCTTG 0.448000 50 60 0 0 0.000781405 0 0 SYT15 83849 broad.mit.edu 37 10 46965114 46965114 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:46965114C>T uc001jea.3 - 5 984 c.831G>A c.(829-831)tcG>tcA p.S277S SYT15_uc001jdz.2_Silent_p.S277S|SYT15_uc001jeb.3_Silent_p.S155S|SYT15_uc010qfp.1_Non-coding_Transcript NM_031912 NP_114118 Q9BQS2 SYT15_HUMAN Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA. 277 integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 CGCCAAACTCCGAGGGGGGCT 0.637000 71 9 0 0 0.000442599 0 0 CYP4F12 66002 broad.mit.edu 37 19 15784509 15784509 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:15784509G>A uc002nbl.3 + 1 289 c.170G>A c.(169-171)cGg>cAg p.R57Q CYP4F12_uc010xoo.2_Missense_Mutation_p.R57Q|CYP4F12_uc010xop.2_Missense_Mutation_p.R57Q NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CCCCCAAAACGGAACTGGTTT 0.587000 77 31 0 0 0.00178596 0 0 SPINK6 404203 broad.mit.edu 37 5 147585614 147585614 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:147585614G>A uc003lpa.3 + 1 377 c.74G>A c.(73-75)gGa>gAa p.G25E SPINK6_uc021yff.1_Missense_Mutation_p.G25E NM_205841 NP_995313 Q6UWN8 ISK6_HUMAN Homo sapiens serine peptidase inhibitor, Kazal type 6 (SPINK6), transcript variant 1, mRNA. 25 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) TTCAGTCAGGGAGGACAGGTC 0.388000 44 78 0 0 0.000781405 0 0 SCAND3 114821 broad.mit.edu 37 6 28542725 28542725 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:28542725G>A uc003nlo.3 - 2 2375 c.1757C>T c.(1756-1758)cCt>cTt p.P586L NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 586 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 AGCCACCTTAGGAGTGACAGA 0.373000 18 9 0 0 0.000274275 0 0 PRDM16 63976 broad.mit.edu 37 1 3342733 3342733 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:3342733C>T uc001akf.3 + 13 3310 c.3228C>T c.(3226-3228)atC>atT p.I1076I PRDM16_uc001ake.3_Silent_p.I1076I|PRDM16_uc009vlh.3_Silent_p.I776I|PRDM16_uc001akc.3_Silent_p.I1075I NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA. 1076 Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) TCTCGGAAATCAGAAACTTTA 0.507000 T EVI1 """MDS, AML""" 84 12 0 0 0.00244969 0 0 SLC22A9 114571 broad.mit.edu 37 11 63149660 63149660 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:63149660G>A uc001nww.3 + 5 1252 c.984G>A c.(982-984)ctG>ctA p.L328L SLC22A9_uc001nwx.3_Non-coding_Transcript NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA. 328 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 AAAAAGAACTGGAGGCAGCAC 0.408000 28 18 0 0 0.000958276 0 0 SEC14L5 9717 broad.mit.edu 37 16 5057370 5057370 + Silent SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:5057370A>C uc002cye.2 + 12 1635 c.1455A>C c.(1453-1455)ggA>ggC p.G485G NM_014692 NP_055507 O43304 S14L5_HUMAN Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA. 485 integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 TCCCCGAAGGAGGGCTGGTCC 0.602000 27 7 0 0 0.000442599 0 0 SFI1 9814 broad.mit.edu 37 22 32009473 32009473 + Missense_Mutation SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:32009473T>C uc003ale.3 + 25 3092 c.2699T>C c.(2698-2700)aTg>aCg p.M900T SFI1_uc003alf.3_Missense_Mutation_p.M869T|SFI1_uc003alg.3_Missense_Mutation_p.M818T|SFI1_uc011alp.2_Missense_Mutation_p.M806T|SFI1_uc011alq.2_Missense_Mutation_p.M845T|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Non-coding_Transcript|SFI1_uc003ali.3_5'Flank|SFI1_uc003alj.3_5'Flank NM_001007467 NP_001007468 A8K8P3 SFI1_HUMAN Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA. 900 G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 GCAGCCAGCATGAAGGCCTCC 0.692000 25 5 0 0 0.000157383 0 0 LTBR 4055 broad.mit.edu 37 12 6499962 6499962 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:6499962C>T uc001qny.1 + 9 1335 c.1167C>T c.(1165-1167)ccC>ccT p.P389P LTBR_uc010sfc.1_Silent_p.P370P|LTBR_uc001qnz.1_Silent_p.P384P NM_002342 NP_002333 P36941 TNR3_HUMAN Homo sapiens lymphotoxin beta receptor (TNFR superfamily, member 3) (LTBR), mRNA. 389 apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane protein binding|receptor activity breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 ACCCCATTCCCGAAGAGGGGG 0.617000 46 28 0 0 0.000878237 0 0 ARID1B 57492 broad.mit.edu 37 6 157488186 157488186 + Missense_Mutation SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:157488186C>A uc003qqp.3 + 8 2853 c.2853C>A c.(2851-2853)ttC>ttA p.F951L ARID1B_uc003qqo.3_Missense_Mutation_p.F964L|ARID1B_uc003qqn.3_Missense_Mutation_p.F951L NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA. 951 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity 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) AAGGCAGTTTCCCCGGCATGA 0.522000 96 69 1.42954e-44 5.25284e-44 0.000781405 1 0 SLC22A25 387601 broad.mit.edu 37 11 62932071 62932071 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:62932071C>T uc001nwr.1 - 7 1321 c.1321G>A c.(1321-1323)Ggt>Agt p.G441S SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript NM_199352 NP_955384 Q6T423 S22AP_HUMAN Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA. 441 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 GCTCCCACACCCAGGGTTGCC 0.478000 16 10 0 0 0.000673444 0 0 COL3A1 1281 broad.mit.edu 37 2 189859048 189859048 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:189859048G>A uc002uqj.1 + 17 1400 c.1283G>A c.(1282-1284)cGa>cAa p.R428Q COL3A1_uc010frw.1_Non-coding_Transcript|MIR3606_uc021vtx.1_5'Flank NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 428 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CCTGGACTGCGAGGTGGTGCA 0.488000 67 19 0 0 0.00121646 0 0 BTN3A3 10384 broad.mit.edu 37 6 26444391 26444392 + Missense_Mutation DNP TC GT GT rs138755245 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:26444391_26444392TC>GT uc003nhz.3 + 3 535_536 c.292_293TC>GT c.(292-294)tcg>GTg p.S98V BTN3A3_uc011dkn.2_Missense_Mutation_p.S56V|BTN3A3_uc021ynh.1_Missense_Mutation_p.S56V NM_006994 NP_008925 O00478 BT3A3_HUMAN Homo sapiens butyrophilin, subfamily 3, member A3 (BTN3A3), transcript variant 1, mRNA. 98 Ig-like V-type 1. integral to membrane cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 AGGGAGAACTTCGATTCTGCGG 0.525000 76 17 0 0 6.4e-05 0 0 SPTLC3 55304 broad.mit.edu 37 20 13098255 13098255 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:13098255C>T uc002wod.1 + 7 1324 c.1035C>T c.(1033-1035)ggC>ggT p.G345G NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA. 345 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) GGGCCGTGGGCCCAACCGGCC 0.502000 35 61 0 0 0.000781405 0 0 CACNA1E 777 broad.mit.edu 37 1 181767716 181767716 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:181767716G>A uc009wxt.3 + 47 6883 c.6688G>A c.(6688-6690)Gag>Aag p.E2230K CACNA1E_uc001gow.3_Missense_Mutation_p.E2187K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E2168K NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 2230 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CTACATCTCCGAGCCCTACTT 0.612000 20 11 0 0 0.000978159 0 0 C3 718 broad.mit.edu 37 19 6707818 6707818 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:6707818C>T uc002mfm.3 - 14 2030 c.1968G>A c.(1966-1968)caG>caA p.Q656Q NM_000064 NP_000055 P01024 CO3_HUMAN Homo sapiens complement component 3 (C3), mRNA. 656 G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CACCTGCCCTCTGGGCGGTCT 0.672000 68 22 0 0 0.00188189 0 0 PRODH 5625 broad.mit.edu 37 22 18905843 18905843 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:18905843G>A uc002zok.4 - 11 1617 c.1413C>T c.(1411-1413)aaC>aaT p.N471N PRODH_uc002zoj.4_Silent_p.N361N|PRODH_uc002zol.4_Silent_p.N363N NM_016335 NP_057419 O43272 PROD_HUMAN Homo sapiens proline dehydrogenase (oxidase) 1 (PRODH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 471 glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process mitochondrial inner membrane|mitochondrial matrix proline dehydrogenase activity breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1) 9 L-Proline(DB00172) GGTACATGGCGTTGGTGGCCT 0.647000 134 56 0 0 0.000781405 0 0 COL1A1 1277 broad.mit.edu 37 17 48264133 48264133 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:48264133C>T uc002iqm.3 - 47 3808 c.3682G>A c.(3682-3684)Gac>Aac p.D1228N NM_000088 NP_000079 P02452 CO1A1_HUMAN Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. 1228 axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) ACCTCGAGGTCACGGTCACGA 0.622000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 125 40 0 0 0.000781405 0 0 MIOS 54468 broad.mit.edu 37 7 7645580 7645580 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:7645580C>T uc003srf.3 + 11 2717 c.2409C>T c.(2407-2409)acC>acT p.T803T MIOS_uc003srg.3_Silent_p.T338T|MIOS_uc010ktq.3_Silent_p.T198T NM_019005 NP_061878 Q9NXC5 MIO_HUMAN Homo sapiens missing oocyte, meiosis regulator, homolog (Drosophila) (MIOS), mRNA. 803 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TAGGAGGAACCAAATCAGATG 0.318000 7 22 0 0 0.00152264 0 0 MLLT6 4302 broad.mit.edu 37 17 36873834 36873834 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:36873834C>T uc002hqi.4 + 10 1814 c.1801C>T c.(1801-1803)Ccc>Tcc p.P601S MLLT6_uc002hqj.3_Missense_Mutation_p.P36S|MLLT6_uc002hqk.4_5'Flank|MIR4726_uc021twg.1_5'Flank NM_005937 NP_005928 P55198 AF17_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (MLLT6), mRNA. 601 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) CAGCACCCTCCCCTCCTCTTC 0.682000 T MLL AL 44 9 0 0 0.00136819 0 0 TTN 7273 broad.mit.edu 37 2 179597594 179597594 + Missense_Mutation SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179597594T>A uc021vsy.1 - 51 12802 c.12577A>T c.(12577-12579)Agc>Tgc p.S4193C TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S854C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 5120 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) CTGTCTTTGCTTCCCACGGAA 0.433000 21 9 0 0 0.000673444 0 0 NFRKB 4798 broad.mit.edu 37 11 129756218 129756218 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:129756218G>A uc001qfg.3 - 2 619 c.498C>T c.(496-498)tcC>tcT p.S166S NFRKB_uc001qfi.3_Silent_p.S153S|NFRKB_uc001qfh.3_Silent_p.S176S|NFRKB_uc010sbw.1_Silent_p.S153S NM_006165 NP_006156 Q6P4R8 NFRKB_HUMAN Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA. 153 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) TTACACTCCGGGAAGCAAGAA 0.463000 88 78 0 0 0.000781405 0 0 DHX57 90957 broad.mit.edu 37 2 39088225 39088225 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:39088225G>A uc002rrf.3 - 4 1426 c.1327C>T c.(1327-1329)Ccc>Tcc p.P443S DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Missense_Mutation_p.P443S NM_198963 NP_945314 Q6P158 DHX57_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA. 443 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) GTCCTAGAGGGTACTGGCAGA 0.378000 112 28 0 0 0.00178596 0 0 NEIL3 55247 broad.mit.edu 37 4 178256880 178256880 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:178256880C>T uc003iut.2 + 2 434 c.317C>T c.(316-318)cCa>cTa p.P106L NEIL3_uc010irs.3_Missense_Mutation_p.P9L NM_018248 NP_060718 Q8TAT5 NEIL3_HUMAN Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA. 106 base-excision repair|nucleotide-excision repair nucleus DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) ATGATTAATCCACTTGAGTAT 0.338000 Base excision repair (BER), DNA glycosylases 57 27 0 0 0.00106085 0 0 GPR128 84873 broad.mit.edu 37 3 100378648 100378648 + Missense_Mutation SNP C T T rs144717099 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:100378648C>T uc003duc.3 + 13 2208 c.1940C>T c.(1939-1941)tCg>tTg p.S647L GPR128_uc011bhc.2_Missense_Mutation_p.S348L|GPR128_uc003dud.3_Missense_Mutation_p.S170L NM_032787 NP_116176 Q96K78 GP128_HUMAN Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA. 647 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 ATTACAATCTCGATCAAAGTG 0.438000 39 12 0 0 0.00136819 0 0 FDXR 2232 broad.mit.edu 37 17 72860060 72860060 + Missense_Mutation SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:72860060C>A uc010wrl.2 - 9 1348 c.1261G>T c.(1261-1263)Ggg>Tgg p.G421W FDXR_uc010wri.2_Missense_Mutation_p.G326W|FDXR_uc010wrj.2_Missense_Mutation_p.G376W|FDXR_uc002jlw.3_Missense_Mutation_p.G135W|FDXR_uc002jlx.3_Missense_Mutation_p.G384W|FDXR_uc002jly.3_Missense_Mutation_p.G378W|FDXR_uc010wrk.2_Missense_Mutation_p.G409W|FDXR_uc010wrm.2_Missense_Mutation_p.G338W|FDXR_uc002jlz.3_Missense_Mutation_p.G370W|FDXR_uc002jmb.3_Intron NM_024417 NP_077728 P22570 ADRO_HUMAN Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 378 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) GGGATGACCCCAAGCTTGGAG 0.592000 228 9 0.000978159 0.00354052 0.000978159 1 0 NR5A2 2494 broad.mit.edu 37 1 200143153 200143153 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:200143153C>T uc001gvb.3 + 7 1647 c.1441C>T c.(1441-1443)Ctg>Ttg p.L481L NR5A2_uc001gvc.3_Silent_p.L435L|NR5A2_uc009wzh.3_Silent_p.L441L|NR5A2_uc010pph.2_Silent_p.L409L NM_205860 NP_995582 O00482 NR5A2_HUMAN Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA. 481 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) CAATGCCGCCCTGCTGGACTA 0.433000 21 7 0 0 0.00198382 0 0 RGPD4 285190 broad.mit.edu 37 2 108477284 108477284 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:108477284G>A uc010ywk.2 + 12 1903 c.1821G>A c.(1819-1821)tgG>tgA p.W607* RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 607 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TTCATTATTGGAAGAAAGTTT 0.323000 81 74 0 0 0.000781405 0 0 GGA3 23163 broad.mit.edu 37 17 73257652 73257653 + Missense_Mutation DNP CC TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:73257652_73257653CC>TT uc002jni.2 - 0 55_56 c.16_17GG>AA c.(16-18)ggg>AAg p.G6K GGA3_uc002jnk.2_5'UTR|GGA3_uc002jnj.2_Missense_Mutation_p.G6K|GGA3_uc010wry.2_Intron|GGA3_uc010wrw.2_Intron|GGA3_uc010wrx.2_5'UTR|GGA3_uc010wrz.2_Missense_Mutation_p.G6K|MRPS7_uc002jnm.4_5'Flank NM_138619 NP_619525 Q9NZ52 GGA3_HUMAN Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA. 6 Binds to ARF1 (in long isoform). intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 20 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) CAGGCTTTCCCCTTCCGCCTCC 0.698000 27 7 0 0 6.4e-05 0 0 CCNE2 9134 broad.mit.edu 37 8 95906253 95906253 + Missense_Mutation SNP G T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:95906253G>T uc003yhc.3 - 2 213 c.109C>A c.(109-111)Cag>Aag p.Q37K CCNE2_uc003yhd.2_Missense_Mutation_p.Q37K NM_057749 NP_477097 O96020 CCNE2_HUMAN Homo sapiens cyclin E2 (CCNE2), mRNA. 37 G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(36;8.75e-07) TAAATCACCTGGGTAGTTTTC 0.468000 567 13 0.000308642 0.00112034 0.000308642 1 0 BBS4 585 broad.mit.edu 37 15 73002052 73002052 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:73002052C>T uc002avd.3 + 2 450 c.112C>T c.(112-114)Cct>Tct p.P38S BBS4_uc010ukv.2_Missense_Mutation_p.P18S|BBS4_uc002avb.3_Missense_Mutation_p.P30S|BBS4_uc002avc.3_5'UTR NM_001252678 NP_001239607 Q96RK4 BBS4_HUMAN Homo sapiens Bardet-Biedl syndrome 4 (BBS4), transcript variant 2, mRNA. 30 Required for localization to centrosomes. adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1) 19 TCCAGAGTTTCCTATTTTGGA 0.358000 Bardet-Biedl syndrome 82 43 0 0 0.000781405 0 0 CYP2C19 1557 broad.mit.edu 37 10 96609702 96609702 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:96609702C>T uc010qnz.2 + 7 1178 c.1178C>T c.(1177-1179)tCt>tTt p.S393F CYP2C19_uc010qny.2_Missense_Mutation_p.S371F NM_000769 NP_000760 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA. 393 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) TCCCTCACTTCTGTGCTACAT 0.398000 23 23 0 0 0.000586117 0 0 C5orf51 285636 broad.mit.edu 37 5 41909989 41909989 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:41909989C>T uc003jmo.3 + 2 349 c.349C>T c.(349-351)Cca>Tca p.P117S NM_175921 NP_787117 A6NDU8 CE051_HUMAN Homo sapiens chromosome 5 open reading frame 51 (C5orf51), mRNA. 117 endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 TAATATGCATCCAAAAGTAAG 0.308000 24 5 0 0 0.000602214 0 0 PRR16 51334 broad.mit.edu 37 5 120021865 120021865 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:120021865C>T uc003ksq.3 + 1 539 c.376C>T c.(376-378)Cct>Tct p.P126S PRR16_uc003ksp.3_Missense_Mutation_p.P103S|PRR16_uc003ksr.3_Missense_Mutation_p.P56S NM_016644 NP_057728 Q569H4 PRR16_HUMAN Homo sapiens proline rich 16 (PRR16), mRNA. 126 Pro-rich. endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) TCCACCACCTCCTCCAAGGTT 0.512000 16 26 0 0 0.00127121 0 0 VCAM1 7412 broad.mit.edu 37 1 101186048 101186048 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:101186048C>T uc001dti.3 + 1 302 c.81C>T c.(79-81)atC>atT p.I27I VCAM1_uc010ouj.2_Silent_p.I27I|VCAM1_uc001dtj.3_Silent_p.I27I NM_001078 NP_001069 P19320 VCAM1_HUMAN Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA. 27 Ig-like C2-type 1. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding p.I27M(2) central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) CTTTTAAAATCGAGACCACCC 0.408000 65 9 0 0 0.000673444 0 0 LRFN2 57497 broad.mit.edu 37 6 40399839 40399839 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:40399839G>A uc003oph.1 - 1 1479 c.1014C>T c.(1012-1014)gtC>gtT p.V338V NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA. 338 Ig-like. cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) CATTGTCATAGACAGCGGTCC 0.602000 20 15 0 0 0.00244969 0 0 LY75-CD302 100526664 broad.mit.edu 37 2 160664998 160664998 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:160664998G>A uc002ubb.4 - 32 4858 c.4784C>T c.(4783-4785)aCc>aTc p.T1595I LY75-CD302_uc010fos.3_Missense_Mutation_p.T1595I|LY75-CD302_uc002ubc.4_Missense_Mutation_p.T1595I NM_001198759 NP_001185688 O60449 LY75_HUMAN Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA. 1595 C-type lectin 10. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding AACTCTCATGGTAATGTTATT 0.338000 76 21 0 0 0.00152264 0 0 ARMC9 80210 broad.mit.edu 37 2 232104718 232104718 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:232104718C>T uc002vrq.4 + 8 955 c.843C>T c.(841-843)agC>agT p.S281S ARMC9_uc002vrp.4_Silent_p.S281S NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA. 281 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) TGCGGCAGAGCCTGGCGCATA 0.557000 11 11 0 0 0.000978159 0 0 OR4K5 79317 broad.mit.edu 37 14 20389615 20389615 + Missense_Mutation SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:20389615C>A uc010tkw.2 + 0 850 c.850C>A c.(850-852)Ccc>Acc p.P284T NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA. 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CGTCCTAAACCCCATTATTTA 0.408000 93 12 1.08611e-07 3.95801e-07 0.000978159 1 0 GRM7 2917 broad.mit.edu 37 3 7620609 7620609 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:7620609C>T uc003bqm.2 + 7 2290 c.2016C>T c.(2014-2016)gcC>gcT p.A672A 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.A672A|GRM7_uc003bql.2_Silent_p.A672A|GRM7_uc003bqn.1_Silent_p.A255A|GRM7_uc010hch.1_Silent_p.A183A NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 672 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) GTTATGCAGCCCTCTTGACGA 0.458000 53 22 0 0 0.00152264 0 0 CRLF1 9244 broad.mit.edu 37 19 18707711 18707711 + Silent SNP C T T rs137853928 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:18707711C>T uc010ebt.2 - 4 1040 c.846G>A c.(844-846)gtG>gtA p.V282V NM_004750 NP_004741 O75462 CRLF1_HUMAN Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA. 282 Fibronectin type-III 2. negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 9 CCTTCCAGTCCACACTGTCCT 0.637000 53 13 0 0 0.00136819 0 0 OR2G6 391211 broad.mit.edu 37 1 248685470 248685470 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:248685470G>A uc001ien.1 + 0 523 c.523G>A c.(523-525)Gat>Aat p.D175N NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA. 175 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) TCGCACACTGGATCATATTTT 0.537000 52 18 0 0 0.00074312 0 0 MYH9 4627 broad.mit.edu 37 22 36714331 36714331 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:36714331G>A uc003apg.3 - 10 1379 c.1148C>T c.(1147-1149)aCc>aTc p.T383I MYH9_uc003aph.1_Missense_Mutation_p.T247I NM_002473 NP_002464 P35579 MYH9_HUMAN Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA. 383 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GGTGAAATCGGTCACATTGAT 0.502000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 171 270 0 0 0.000781405 0 0 TAF7L 54457 broad.mit.edu 37 X 100533048 100533048 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:100533048G>A uc004ehb.3 - 7 850 c.824C>T c.(823-825)gCc>gTc p.A275V TAF7L_uc004eha.3_Missense_Mutation_p.A189V|TAF7L_uc004ehc.2_Missense_Mutation_p.A189V NM_024885 NP_001161946 Q5H9L4 TAF7L_HUMAN Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA. 275 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 GGTACTTACGGCTTCAGCATC 0.453000 24 18 0 0 0.00152264 0 0 ALPK2 115701 broad.mit.edu 37 18 56246784 56246784 + Missense_Mutation SNP T G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:56246784T>G uc002lhj.4 - 3 1438 c.1224A>C c.(1222-1224)caA>caC p.Q408H NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 408 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 CCCCAACTTCTTGGGGTTGTG 0.562000 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 10 0 0 0.000442599 0 0 PIPSL 266971 broad.mit.edu 37 10 95720783 95720783 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:95720783C>T uc009xuj.2 - 0 890 c.371G>A c.(370-372)gGa>gAa p.G124E Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA. ACCACTAGCTCCAGAGCTACA 0.502000 14 15 0 0 0.00244969 0 0 KIF27 55582 broad.mit.edu 37 9 86504117 86504117 + Nonsense_Mutation SNP G A A rs148451065 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:86504117G>A uc004ana.3 - 6 2005 c.1861C>T c.(1861-1863)Cga>Tga p.R621* KIF27_uc010mpw.3_Nonsense_Mutation_p.R621*|KIF27_uc010mpx.3_Nonsense_Mutation_p.R621* NM_017576 NP_060046 Q86VH2 KIF27_HUMAN Homo sapiens kinesin family member 27 (KIF27), mRNA. 621 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 CTTCGTGTTCGAAATCCAGCA 0.418000 107 115 0 0 0.000781405 0 0 RGS11 8786 broad.mit.edu 37 16 320987 320987 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:320987G>A uc002cgj.1 - 12 978 c.975C>T c.(973-975)ttC>ttT p.F325F LUC7L_uc021szo.1_Intron|RGS11_uc002cgi.1_Silent_p.F304F|RGS11_uc010bqs.1_Silent_p.F314F|RGS11_uc002cgk.1_Silent_p.F141F NM_183337 NP_003825 O94810 RGS11_HUMAN Homo sapiens regulator of G-protein signaling 11 (RGS11), transcript variant 1, mRNA. 325 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1) 8 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) TCTCACCACTGAACTCCTTTC 0.677000 12 13 0 0 0.000308642 0 0 FABP6 2172 broad.mit.edu 37 5 159661850 159661850 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:159661850G>A uc003lya.1 + 2 395 c.267G>A c.(265-267)ggG>ggA p.G89G FABP6_uc003lxx.1_Silent_p.G138G|FABP6_uc003lxz.1_Silent_p.G138G|HI423497_uc021ygz.1_5'Flank NM_001445 NP_001436 P51161 FABP6_HUMAN Homo sapiens fatty acid binding protein 6, ileal (FABP6), transcript variant 2, mRNA. 89 bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation cytosol transporter activity breast(1)|kidney(1)|large_intestine(1)|lung(2) 5 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGAGGGCGGGAAGCTGGTGG 0.547000 29 9 0 0 0.000673444 0 0 SHROOM2 357 broad.mit.edu 37 X 9900626 9900626 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:9900626C>T uc004csu.1 + 5 3393 c.3303C>T c.(3301-3303)tcC>tcT p.S1101S SHROOM2_uc004csv.2_5'UTR|SHROOM2_uc011mic.1_5'UTR|SHROOM2_uc004csw.1_5'UTR NM_001649 NP_001640 Q13796 SHRM2_HUMAN Homo sapiens shroom family member 2 (SHROOM2), mRNA. 1101 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) CCCCTGCGTCCCTGGATGTGT 0.687000 20 9 0 0 0.000274275 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56733493 56733493 + Silent SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:56733493T>A uc002qmq.3 - 4 1108 c.942A>T c.(940-942)ggA>ggT p.G314G ZSCAN5A_uc010ygi.2_Silent_p.G197G|ZSCAN5A_uc002qmr.3_Silent_p.G314G|ZSCAN5A_uc002qms.1_Silent_p.G313G NM_024303 NP_077279 Q9BUG6 ZSA5A_HUMAN Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA. 314 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 GTGTGGCTTCTCCTTGAGGCT 0.562000 99 40 0 0 0.00148497 0 0 GRM1 2911 broad.mit.edu 37 6 146350696 146350696 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:146350696G>A uc010khw.1 + 1 513 c.43G>A c.(43-45)Gag>Aag p.E15K GRM1_uc010khu.1_Missense_Mutation_p.E15K|GRM1_uc010khv.1_Missense_Mutation_p.E15K|GRM1_uc003qll.2_Missense_Mutation_p.E15K|GRM1_uc011edz.1_Missense_Mutation_p.E15K|GRM1_uc011eea.1_Missense_Mutation_p.E15K NM_000838 NP_000829 Q13255 GRM1_HUMAN Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA. 15 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GATCTTTTTGGAGGTGTCCCT 0.602000 72 44 0 0 0.000781405 0 0 RNMT 8731 broad.mit.edu 37 18 13742548 13742548 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:13742548C>T uc002ksk.1 + 6 1103 c.1036C>T c.(1036-1038)Cag>Tag p.Q346* RNMT_uc002ksl.1_Nonsense_Mutation_p.Q346*|RNMT_uc002ksm.1_Nonsense_Mutation_p.Q346*|RNMT_uc010dlk.2_Nonsense_Mutation_p.Q346*|RNMT_uc010xae.1_Non-coding_Transcript NM_003799 NP_003790 O43148 MCES_HUMAN Homo sapiens RNA (guanine-7-) methyltransferase (RNMT), mRNA. 346 mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm RNA binding|mRNA (guanine-N7-)-methyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2) 18 TGTGAAATTTCAGAAGAAAGG 0.338000 116 28 0 0 0.000720815 0 0 MKL1 57591 broad.mit.edu 37 22 40814646 40814646 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:40814646G>A uc003ayv.1 - 8 2003 c.1796C>T c.(1795-1797)cCc>cTc p.P599L MKL1_uc010gyf.1_Missense_Mutation_p.P549L|MKL1_uc003ayw.1_Missense_Mutation_p.P599L|MKL1_uc010gye.1_Missense_Mutation_p.P599L NM_020831 NP_065882 Q969V6 MKL1_HUMAN Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA. 599 Pro-rich. 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 CGCCAGGCTGGGGTTGAATGG 0.711000 T RBM15 acute megakaryocytic leukemia 32 9 0 0 0.000978159 0 0 OR11H12 440153 broad.mit.edu 37 14 19378112 19378112 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:19378112C>T uc010tkp.2 + 0 519 c.519C>T c.(517-519)atC>atT p.I173I NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA. 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGTTCCTGATCCCCATTGTTC 0.483000 149 15 0 0 0.000878237 0 0 ST6GALNAC3 256435 broad.mit.edu 37 1 76878020 76878020 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:76878020C>T uc001dhh.2 + 2 704 c.541C>T c.(541-543)Ccg>Tcg p.P181S ST6GALNAC3_uc001dhg.4_Missense_Mutation_p.P181S|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.P116S NM_152996 NP_694541 Q8NDV1 SIA7C_HUMAN Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA. 181 protein glycosylation integral to Golgi membrane sialyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2) 36 TGGTATCTATCCGAATGCCCA 0.423000 38 12 0 0 0.00244969 0 0 DNAH10 196385 broad.mit.edu 37 12 124335526 124335526 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:124335526C>T uc001uft.4 + 33 5865 c.5840C>T c.(5839-5841)tCg>tTg p.S1947L NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 1947 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CTGCCCGAGTCGGTGAAGGCG 0.617000 37 15 0 0 0.000308642 0 0 SLC14A1 6563 broad.mit.edu 37 18 43319587 43319587 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:43319587G>A uc010dnk.3 + 8 1296 c.1074G>A c.(1072-1074)atG>atA p.M358I SLC14A1_uc002lbi.4_Missense_Mutation_p.M170I|SLC14A1_uc010xcn.2_Missense_Mutation_p.M302I|SLC14A1_uc002lbf.4_Missense_Mutation_p.M302I|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Missense_Mutation_p.M197I|SLC14A1_uc002lbh.4_Missense_Mutation_p.M194I|SLC14A1_uc002lbj.4_Missense_Mutation_p.M358I|SLC14A1_uc002lbk.4_Missense_Mutation_p.M302I|SLC14A1_uc021ujg.1_Nonsense_Mutation_p.W253* NM_001128588 NP_056949 Q13336 UT1_HUMAN Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA. 302 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 GAATGTTCATGGCGCTCACCT 0.547000 95 19 0 0 0.00121646 0 0 LDLRAD1 388633 broad.mit.edu 37 1 54474787 54474787 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:54474787G>A uc001cwm.1 - 5 504 c.486C>T c.(484-486)ccC>ccT p.P162P LDLRAD1_uc010onz.1_3'UTR|LDLRAD1_uc010ooa.1_Silent_p.P119P|LDLRAD1_uc009vzn.1_Non-coding_Transcript NM_001010978 NP_001010978 Q5T700 LRAD1_HUMAN Homo sapiens low density lipoprotein receptor class A domain containing 1 (LDLRAD1), mRNA. 162 LDL-receptor class A 3; atypical. integral to membrane receptor activity large_intestine(3)|prostate(1)|skin(3) 7 CAGGGCCGCAGGGTGGGCACA 0.582000 136 38 0 0 0.00170553 0 0 FAM70B 348013 broad.mit.edu 37 13 114502317 114502317 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:114502317G>A uc001vuh.3 + 4 375 c.348G>A c.(346-348)ccG>ccA p.P116P NM_182614 NP_872420 Q8WV15 FA70B_HUMAN Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA. 116 integral to membrane upper_aerodigestive_tract(1) 1 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.123)|all_epithelial(44;0.133) all cancers(43;0.181) TCTAGGAACCGAGGCCCCTCA 0.547000 30 8 0 0 0.000274275 0 0 FRMD7 90167 broad.mit.edu 37 X 131212788 131212788 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:131212788C>T uc004ewn.3 - 11 1435 c.1257G>A c.(1255-1257)atG>atA p.M419I FRMD7_uc022cdy.1_Missense_Mutation_p.M299I|FRMD7_uc011muy.2_Missense_Mutation_p.M404I NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN Homo sapiens FERM domain containing 7 (FRMD7), mRNA. 419 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) AGACAGGGTCCATATAAATAA 0.448000 3 100 0 0 0.000781405 0 0 NRXN3 9369 broad.mit.edu 37 14 79181202 79181202 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:79181202C>T uc001xun.3 + 4 1136 c.645C>T c.(643-645)aaC>aaT p.N215N NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Silent_p.N349N NM_004796 NP_004787 Q9HDB5 NRX3B_HUMAN Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA. 221 Laminin G-like. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TGCCGGAGAACCGTGCTGGCC 0.592000 22 38 0 0 0.000692331 0 0 SPEG 10290 broad.mit.edu 37 2 220348742 220348742 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:220348742C>T uc010fwg.3 + 29 6557 c.6557C>T c.(6556-6558)cCc>cTc p.P2186L NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 2186 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GCCCCCAAACCCAGTACCCCT 0.672000 47 10 0 0 0.000673444 0 0 MUC16 94025 broad.mit.edu 37 19 8976641 8976641 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:8976641G>A uc002mkp.3 - 73 42539 c.42335C>T c.(42334-42336)cCc>cTc p.P14112L MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.P912L|MUC16_uc021uog.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 14143 SEA 14. Missing (in Ref. 3; AAK74120). 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 CTGGAACAAGGGTCTGAGCTT 0.567000 14 14 0 0 0.000422831 0 0 BRD4 23476 broad.mit.edu 37 19 15350470 15350470 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:15350470G>A uc002nar.3 - 16 3667 c.3445_splice c.e16+1 p.R1149_splice NM_058243 NP_490597 O60885 BRD4_HUMAN Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA. 1149 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) GAGCACTCACGCTGGGGCAGG 0.701000 T C15orf55 lethal midline carcinoma of young people 40 40 0 0 0.00195071 0 0 EVI5L 115704 broad.mit.edu 37 19 7912715 7912715 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:7912715C>T uc010xjz.2 + 1 282 c.235C>T c.(235-237)Ctg>Ttg p.L79L EVI5L_uc002min.3_Silent_p.L79L NM_001159944 NP_001153416 Q96CN4 EVI5L_HUMAN Homo sapiens ecotropic viral integration site 5-like (EVI5L), transcript variant 1, mRNA. 79 intracellular Rab GTPase activator activity|protein binding breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 12 CTCCTCCAACCTGAGCCACCT 0.662000 21 9 0 0 0.000274275 0 0 IFNA5 3442 broad.mit.edu 37 9 21305016 21305016 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:21305016G>A uc011lnh.2 - 0 297 c.240C>T c.(238-240)ctC>ctT p.L80L NM_002169 NP_002160 P01569 IFNA5_HUMAN Homo sapiens interferon, alpha 5 (IFNA5), mRNA. 80 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 7 Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) TCATCTCATGGAGGACAGAGA 0.468000 7 27 0 0 0.000720815 0 0 IGSF21 84966 broad.mit.edu 37 1 18692034 18692034 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:18692034C>T uc001bau.2 + 5 1241 c.858C>T c.(856-858)ttC>ttT p.F286F IGSF21_uc001bav.2_Silent_p.F107F NM_032880 NP_116269 Q96ID5 IGS21_HUMAN Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA. 286 extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CCACCTACTTCCTGCGCCACA 0.622000 87 55 0 0 0.000781405 0 0 BEND3 57673 broad.mit.edu 37 6 107391958 107391958 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:107391958G>A uc003prs.2 - 4 1087 c.437C>T c.(436-438)tCg>tTg p.S146L NM_001080450 NP_001073919 Q5T5X7 BEND3_HUMAN Homo sapiens BEN domain containing 3 (BEND3), mRNA. 146 p.S146L(2) central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3) 30 CAGGTCCCCCGAGGGAGGATT 0.572000 52 37 0 0 0.00195071 0 0 SCRN2 90507 broad.mit.edu 37 17 45915985 45915985 + Missense_Mutation SNP G A A rs142383711 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:45915985G>A uc002imd.3 - 5 976 c.850C>T c.(850-852)Cgc>Tgc p.R284C SCRN2_uc002imf.3_Missense_Mutation_p.R284C NM_138355 NP_612364 Q96FV2 SCRN2_HUMAN Homo sapiens secernin 2 (SCRN2), transcript variant 1, mRNA. 284 proteolysis dipeptidase activity cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 14 GCCGTGGTGCGAAAGCCTCCC 0.607000 44 17 0 0 0.00121646 0 0 ADAMTS19 171019 broad.mit.edu 37 5 129037128 129037128 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:129037128G>A uc003kvb.1 + 19 2984 c.2984G>A c.(2983-2985)gGa>gAa p.G995E ADAMTS19_uc010jdh.1_Non-coding_Transcript NM_133638 NP_598377 Q8TE59 ATS19_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA. 995 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TGTGGAAAAGGAATGCAGAGC 0.488000 55 17 0 0 0.00121646 0 0 TICAM1 148022 broad.mit.edu 37 19 4816466 4816467 + Missense_Mutation DNP GG AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:4816466_4816467GG>AA uc002mbi.3 - 1 2174_2175 c.1923_1924CC>TT c.(1921-1926)ccccca>ccTTca p.P642S TICAM1_uc021unj.1_Missense_Mutation_p.P642S NM_182919 NP_891549 Q8IUC6 TCAM1_HUMAN Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA. 642 Pro-rich.|Sufficient to induce apoptosis. Missing (in Ref. 6; AAO85488). I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GAGGGCGGTGGGGGGGTGCCAG 0.733000 17 5 0 0 6.4e-05 0 0 SLFN11 91607 broad.mit.edu 37 17 33690150 33690150 + Missense_Mutation SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:33690150T>A uc002hjg.4 - 1 924 c.677A>T c.(676-678)tAt>tTt p.Y226F SLFN11_uc010ctr.3_Missense_Mutation_p.Y226F|SLFN11_uc010ctp.3_Missense_Mutation_p.Y226F|SLFN11_uc010ctq.3_Missense_Mutation_p.Y226F|SLFN11_uc002hjh.4_Missense_Mutation_p.Y226F NM_152270 NP_689483 Q7Z7L1 SLN11_HUMAN Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA. 226 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCTTTTTACATATTCTTGGAA 0.383000 24 61 0 0 0.000781405 0 0 DNAH10 196385 broad.mit.edu 37 12 124399401 124399401 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:124399401G>A uc001uft.4 + 60 10248 c.10223G>A c.(10222-10224)tGg>tAg p.W3408* NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 3408 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TCTTCCAGATGGGGATCCCAG 0.562000 21 7 0 0 0.000157383 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147336230 147336230 + Missense_Mutation SNP T G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:147336230T>G uc003weu.2 + 12 2446 c.1930T>G c.(1930-1932)Ttg>Gtg p.L644V NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 644 Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GTCTCATGACTTGCAGATGCA 0.478000 HNSCC(39;0.1) 111 29 0 0 0.00058488 0 0 MYH4 4622 broad.mit.edu 37 17 10355617 10355617 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:10355617C>T uc002gmn.3 - 26 3490 c.3379G>A c.(3379-3381)Gag>Aag p.E1127K AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 1127 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 CGCTCTGCCTCGATTTCCTCC 0.552000 27 30 0 0 0.00209593 0 0 APOB 338 broad.mit.edu 37 2 21229420 21229420 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:21229420G>A uc002red.3 - 25 10448 c.10320C>T c.(10318-10320)ttC>ttT p.F3440F NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 3440 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTTCTTGCTTGAAATTCATTC 0.373000 275 215 0 0 0.000781405 0 0 ZNF665 79788 broad.mit.edu 37 19 53668809 53668809 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:53668809G>A uc010eqm.1 - 3 1034 c.934C>T c.(934-936)Cat>Tat p.H312Y NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN Homo sapiens zinc finger protein 665 (ZNF665), mRNA. 247 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) TCCCCAGTATGAATTCTTCGA 0.433000 167 42 0 0 0.000781405 0 0 LEMD1 93273 broad.mit.edu 37 1 205350880 205350880 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:205350880C>T uc001hcj.2 - 5 587 c.452G>A c.(451-453)gGt>gAt p.G151D LEMD1_uc001hcl.2_Missense_Mutation_p.G110D|LEMD1_uc001hci.2_Missense_Mutation_p.V104I|LEMD1_uc001hcm.2_Non-coding_Transcript|LEMD1_uc001hcn.2_Missense_Mutation_p.V63I|LEMD1_uc001hck.2_Non-coding_Transcript|LOC284576_uc001hch.1_Intron NM_001199050 NP_001185979 Q68G75 LEMD1_HUMAN Homo sapiens LEM domain containing 1 (LEMD1), transcript variant 1, mRNA. 151 integral to membrane|nuclear envelope breast(1)|lung(2) 3 Breast(84;0.247) BRCA - Breast invasive adenocarcinoma(75;0.0938) CACTGGGAAACCTTCTTCTCT 0.463000 218 52 0 0 0.000781405 0 0 MRPS24 64951 broad.mit.edu 37 7 43906562 43906562 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:43906562G>A uc003tit.1 - 3 291 c.240C>T c.(238-240)gaC>gaT p.D80D URGCP_uc022acg.1_3'UTR NM_032014 NP_114403 Q96EL2 RT24_HUMAN Homo sapiens mitochondrial ribosomal protein S24 (MRPS24), nuclear gene encoding mitochondrial protein, mRNA. 80 translation mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 5 CTGCGGCATGGTCCTCTCCAT 0.552000 15 60 0 0 0.000781405 0 0 ENPP3 5169 broad.mit.edu 37 6 131997883 131997883 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:131997883C>T uc003qcu.4 + 10 1227 c.880C>T c.(880-882)Cca>Tca p.P294S ENPP3_uc010kfn.1_Non-coding_Transcript|ENPP3_uc010kfo.1_Non-coding_Transcript|ENPP3_uc010kfp.1_Non-coding_Transcript|ENPP3_uc003qcv.3_Missense_Mutation_p.P294S|ENPP3_uc010kfq.3_Non-coding_Transcript NM_005021 NP_005012 O14638 ENPP3_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA. 294 Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) CAGAAGTGTCCCATTTGAAGA 0.348000 18 7 0 0 0.000274275 0 0 CCDC41 51134 broad.mit.edu 37 12 94703864 94703864 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:94703864C>T uc001tdd.3 - 15 2417 c.1831G>A c.(1831-1833)Gac>Aac p.D611N CCDC41_uc001tde.3_Missense_Mutation_p.D611N|CCDC41_uc009zsw.1_Non-coding_Transcript NM_016122 NP_057206 Q9Y592 CCD41_HUMAN Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA. 603 breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2) 27 CTTGTATAGTCTTCAAAAGGA 0.294000 17 23 0 0 0.00188189 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618646 77618646 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:77618646G>A uc003yau.2 + 1 2710 c.2323G>A c.(2323-2325)Gaa>Aaa p.E775K ZFHX4_uc003yat.1_Missense_Mutation_p.E775K|ZFHX4_uc003yaw.1_Missense_Mutation_p.E775K NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 775 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTGTGATTATGAAACCAATGT 0.507000 HNSCC(33;0.089) 17 9 0 0 0.000673444 0 0 DNAH8 1769 broad.mit.edu 37 6 38835890 38835890 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:38835890G>A uc021yzh.1 + 47 6855 c.6746G>A c.(6745-6747)gGa>gAa p.G2249E DNAH8_uc003ooe.2_Missense_Mutation_p.G2032E 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 AGGACTCTTGGATCTCAAAAA 0.363000 52 20 0 0 0.000958276 0 0 SIN3B 23309 broad.mit.edu 37 19 16976290 16976290 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:16976290C>T uc002ney.2 + 11 1572 c.1549C>T c.(1549-1551)Cgg>Tgg p.R517W SIN3B_uc002nez.2_Missense_Mutation_p.R485W|SIN3B_uc010xpi.1_Missense_Mutation_p.R75W NM_015260 NP_056075 O75182 SIN3B_HUMAN Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA. 517 Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity). cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 GAAGCTATCTCGGATGGCGCC 0.582000 45 38 0 0 0.00128727 0 0 GLIS1 148979 broad.mit.edu 37 1 54060405 54060405 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:54060405G>A uc001cvr.1 - 2 738 c.171C>T c.(169-171)ctC>ctT p.L57L NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA. 57 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 TGCCCTCGGGGAGGTGGGTCT 0.701000 11 14 0 0 0.00244969 0 0 MYO9A 4649 broad.mit.edu 37 15 72119333 72119333 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:72119333G>A uc002atl.4 - 41 7708 c.7235C>T c.(7234-7236)tCc>tTc p.S2412F MYO9A_uc002atk.3_Missense_Mutation_p.S1207F NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN Homo sapiens myosin IXA (MYO9A), mRNA. 2412 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CAACTTGCTGGAAGGTTCAGA 0.443000 35 10 0 0 0.000978159 0 0 TTN 7273 broad.mit.edu 37 2 179477638 179477638 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179477638C>T uc021vsy.1 - 213 42331 c.42106G>A c.(42106-42108)Ggg>Agg p.G14036R MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G7731R|TTN_uc021vta.1_Missense_Mutation_p.G7664R|TTN_uc021vtb.1_Missense_Mutation_p.G7539R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 14963 Fibronectin type-III 1. 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) GTGGGAACCCCTTCCGCCACT 0.493000 17 8 0 0 0.000442599 0 0 GPHN 10243 broad.mit.edu 37 14 67525457 67525457 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:67525457C>T uc001xiy.3 + 9 2120 c.999C>T c.(997-999)gtC>gtT p.V333V GPHN_uc001xiw.3_Silent_p.V348V|GPHN_uc001xix.3_Silent_p.V366V|GPHN_uc010tss.2_Silent_p.V379V|GPHN_uc010tst.2_Silent_p.V302V|GPHN_uc010tsu.2_Silent_p.V256V NM_001024218 NP_001019389 Q9NQX3 GEPH_HUMAN Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA. 333 MPT adenylyltransferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) TTATCACAGTCCTGGAGATGA 0.418000 T MLL AL 127 39 0 0 0.00128727 0 0 PPP6C 5537 broad.mit.edu 37 9 127920583 127920583 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:127920583G>A uc010mwv.3 - 4 648 c.427C>T c.(427-429)Cgt>Tgt p.R143C PPP6C_uc004bpg.4_Missense_Mutation_p.R106C|PPP6C_uc010mww.3_Missense_Mutation_p.R84C|PPP6C_uc011lzr.2_Intron NM_001123355 NP_001116827 O00743 PPP6_HUMAN Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA. 106 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 AGTGTAATACGATCAGGCCAT 0.353000 115 114 0 0 0.000781405 0 0 C9orf174 100499483 broad.mit.edu 37 9 100127970 100127970 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:100127970C>T uc011lut.2 + 43 5551 c.4545C>T c.(4543-4545)atC>atT p.I1515I C9orf174_uc004axe.2_Silent_p.I1321I|C9orf174_uc011lus.2_Silent_p.I1102I|C9orf174_uc004axg.2_Silent_p.I1376I|C9orf174_uc004axh.2_Non-coding_Transcript NM_020893 NP_065944 Q9P1Z9 CI174_HUMAN Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA. 1321 integral to membrane breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1) 16 TTAAGGGGATCATCTTGACCC 0.552000 94 21 0 0 0.000720815 0 0 CCDC147 159686 broad.mit.edu 37 10 106118293 106118293 + Missense_Mutation SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:106118293T>A uc001kyh.3 + 1 338 c.204T>A c.(202-204)aaT>aaA p.N68K NM_001008723 NP_001008723 Q5T655 CC147_HUMAN Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA. 68 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) GAGAGCTAAATGCAGAGATTG 0.433000 18 11 0 0 0.000673444 0 0 GABBR1 2550 broad.mit.edu 37 6 29572397 29572397 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:29572397G>A uc003nmt.4 - 21 2922 c.2586C>T c.(2584-2586)acC>acT p.T862T GABBR1_uc003nmp.4_Silent_p.T745T|GABBR1_uc003nms.4_Silent_p.T745T|GABBR1_uc003nmu.4_Silent_p.T800T|GABBR1_uc011dlr.2_Silent_p.T685T NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA. 862 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) ATTCCCCTCGGGTGATCAGCC 0.587000 32 52 0 0 0.000781405 0 0 C17orf53 78995 broad.mit.edu 37 17 42226383 42226384 + Silent DNP CC TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:42226383_42226384CC>TT uc002ifi.2 + 2 1449_1450 c.1212_1213CC>TT c.(1210-1215)atcctg>atTTtg p.404_405IL>IL C17orf53_uc010czq.2_Silent_p.404_405IL>IL|C17orf53_uc002ifj.2_Silent_p.404_405IL>IL|C17orf53_uc002ifk.1_Non-coding_Transcript NM_024032 NP_076937 Q8N3J3 CQ053_HUMAN Homo sapiens chromosome 17 open reading frame 53 (C17orf53), transcript variant 1, mRNA. 404 NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) CAGCTGGGATCCTGCCTCACCA 0.614000 21 11 0 0 6.4e-05 0 0 WWC1 23286 broad.mit.edu 37 5 167868776 167868776 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:167868776G>A uc003lzu.3 + 15 2463 c.2370G>A c.(2368-2370)aaG>aaA p.K790K WWC1_uc003lzv.3_Silent_p.K790K|WWC1_uc011den.2_Silent_p.K790K|WWC1_uc003lzw.3_Silent_p.K589K|WWC1_uc010jjf.1_Silent_p.K57K NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA. 790 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) AATACTTGAAGAAACAGAGCA 0.622000 28 12 0 0 0.00136819 0 0 CYP7B1 9420 broad.mit.edu 37 8 65517309 65517309 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:65517309C>T uc003xvj.2 - 4 1367 c.1163G>A c.(1162-1164)cGa>cAa p.R388Q NM_004820 NP_004811 O75881 CP7B1_HUMAN Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA. 388 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) GTCTCCCTTTCGCACACAGTA 0.453000 47 32 0 0 0.0024448 0 0 BBC3 27113 broad.mit.edu 37 19 47725012 47725013 + Missense_Mutation DNP GG AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:47725012_47725013GG>AA uc010xyl.2 - 3 895_896 c.731_732CC>TT c.(730-732)ccc>cTT p.P244L BBC3_uc002pgf.4_3'UTR|BBC3_uc010eky.3_3'UTR|BBC3_uc010ekz.3_Missense_Mutation_p.P84L NM_001127240 NP_055232 Q9BXH1 BBC3_HUMAN Homo sapiens BCL2 binding component 3 (BBC3), transcript variant 1, mRNA. 0 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol cytosol|mitochondrial outer membrane protein binding endometrium(1)|lung(2)|skin(1) 4 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234) GAGGTGGGAGGGGCCTGCCCCC 0.708000 10 9 0 0 6.4e-05 0 0 PCM1 5108 broad.mit.edu 37 8 17822259 17822259 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:17822259G>A uc022asj.1 + 16 2976 c.2954G>A c.(2953-2955)gGa>gAa p.G985E PCM1_uc003wyi.4_Missense_Mutation_p.G946E|PCM1_uc011kyh.2_Missense_Mutation_p.G946E|PCM1_uc003wyj.4_Missense_Mutation_p.G947E NM_006197 NP_006188 Q15154 PCM1_HUMAN Homo sapiens pericentriolar material 1 (PCM1), mRNA. 946 G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) TCCTACAATGGAAAGGAAACT 0.383000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 28 22 0 0 0.00278032 0 0 TCRVA15 0 broad.mit.edu 37 14 22205169 22205169 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:22205169C>T uc001wbp.2 + 1 282 c.233C>T c.(232-234)tCc>tTc p.S78F TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Intron|TCRVA15_uc021rpc.1_Non-coding_Transcript SubName: Full=Tcell alpha chain; Flags: Fragment; GAAGTGGCCTCCCTGTTTATC 0.498000 20 9 0 0 0.000442599 0 0 NDST4 64579 broad.mit.edu 37 4 115858526 115858526 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:115858526G>A uc003ibu.3 - 4 2034 c.1355C>T c.(1354-1356)cCa>cTa p.P452L NDST4_uc010imw.3_Non-coding_Transcript NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 452 Heparan sulfate N-deacetylase 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) TTTCAGATGTGGATATTCTTC 0.468000 26 46 0 0 0.000781405 0 0 ATAD3C 219293 broad.mit.edu 37 1 1403781 1403781 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:1403781C>T uc001aft.2 + 11 2102 c.1107C>T c.(1105-1107)tcC>tcT p.S369S NM_001039211 NP_001034300 Q5T2N8 ATD3C_HUMAN Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA. 369 ATP binding|nucleoside-triphosphatase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CGTATGCCTCCAAGGACGGGG 0.667000 67 6 0 0 0.000442599 0 0 LBH 81606 broad.mit.edu 37 2 30480424 30480424 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:30480424C>T uc002rne.2 + 2 463 c.255C>T c.(253-255)ttC>ttT p.F85F NM_030915 NP_112177 Q53QV2 LBH_HUMAN Homo sapiens limb bud and heart development homolog (mouse) (LBH), mRNA. 85 multicellular organismal development|transcription, DNA-dependent cytoplasm|nucleolus endometrium(2)|large_intestine(1)|lung(2) 5 Acute lymphoblastic leukemia(172;0.155) CTGAGGAGTTCCTGGTCCAGG 0.577000 55 16 0 0 0.000566183 0 0 EIF2C2 27161 broad.mit.edu 37 8 141545600 141545600 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:141545600G>A uc003yvn.3 - 16 2279 c.2238C>T c.(2236-2238)ttC>ttT p.F746F EIF2C2_uc010meo.3_Intron|EIF2C2_uc010men.3_Silent_p.F669F NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA. 746 Piwi. mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 33 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) GGTAGAAGTCGAACTCGGTGG 0.562000 79 28 0 0 0.00209593 0 0 KRT32 3882 broad.mit.edu 37 17 39623238 39623239 + Missense_Mutation DNP CC TA TA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:39623238_39623239CC>TA uc002hwr.3 - 0 400_401 c.339_340GG>TA c.(337-342)agggtg>agTAtg p.113_114RV>SM NM_002278 NP_002269 Q14532 K1H2_HUMAN Homo sapiens keratin 32 (KRT32), mRNA. 113 Coil 1A.|Rod. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) AGCTGCCGCACCCTCGTCAGGT 0.594000 78 44 0 0 6.4e-05 0 0 SLC6A14 11254 broad.mit.edu 37 X 115590032 115590032 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:115590032C>T uc004eqi.3 + 13 1971 c.1840C>T c.(1840-1842)Cgt>Tgt p.R614C NM_007231 NP_009162 Q9UN76 S6A14_HUMAN Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA. 614 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) GGAACAACATCGTGGGGAAAG 0.408000 5 45 0 0 0.000781405 0 0 CASR 846 broad.mit.edu 37 3 122002548 122002548 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:122002548A>G uc003eew.4 + 6 2215 c.1777A>G c.(1777-1779)Aac>Gac p.N593D CASR_uc003eev.4_Missense_Mutation_p.N583D NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 583 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) CAGTGCCTGTAACAAGTGCCC 0.488000 53 27 0 0 0.00178596 0 0 TIMP4 7079 broad.mit.edu 37 3 12198371 12198372 + Missense_Mutation DNP GG TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:12198371_12198372GG>TT uc003bwo.3 - 2 811_812 c.300_301CC>AA c.(298-303)tccctc>tcAAtc p.L101I SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.3_Intron|SYN2_uc003bwn.3_Intron NM_003256 NP_003247 Q99727 TIMP4_HUMAN Homo sapiens TIMP metallopeptidase inhibitor 4 (TIMP4), mRNA. 101 NTR. metal ion binding|metalloendopeptidase inhibitor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 ACACCACAGAGGGAAGAGTCAA 0.401000 566 11 0 0 6.4e-05 0 0 CCDC157 550631 broad.mit.edu 37 22 30770064 30770064 + Silent SNP C G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:30770064C>G uc011aku.2 + 8 2316 c.1656C>G c.(1654-1656)acC>acG p.T552T CCDC157_uc011akv.2_Silent_p.T552T NM_001017437 NP_001017437 Q569K6 CC157_HUMAN Homo sapiens coiled-coil domain containing 157 (CCDC157), mRNA. 552 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 15 ACAGGCCCACCGAGACCCAGA 0.667000 8 18 0 0 0.000566183 0 0 FAM71C 196472 broad.mit.edu 37 12 100043168 100043168 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:100043168G>A uc001tgn.3 + 1 1143 c.718G>A c.(718-720)Gag>Aag p.E240K ANKS1B_uc001tge.2_Intron|ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Intron NM_153364 NP_699195 Q8NEG0 FA71C_HUMAN Homo sapiens family with sequence similarity 71, member C (FAM71C), mRNA. 240 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) TTATACAATAGAGATATGAAT 0.413000 90 32 0 0 0.00058488 0 0 CPAMD8 27151 broad.mit.edu 37 19 17038926 17038926 + Missense_Mutation SNP C T T rs61742969 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:17038926C>T uc002nfb.3 - 24 3436 c.3404G>A c.(3403-3405)cGa>cAa p.R1135Q NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 1088 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CCTCCAGATTCGGAATTCACC 0.627000 56 40 0 0 0.00222228 0 0 ITGAD 3681 broad.mit.edu 37 16 31426181 31426181 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:31426181G>A uc010cap.1 + 18 2204 c.2155_splice c.e18-1 p.D719_splice ITGAD_uc002ebv.1_Splice_Site_p.D718_splice NM_005353 NP_005344 Q13349 ITAD_HUMAN Homo sapiens integrin, alpha D (ITGAD), mRNA. 718 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TCTCTCTCAGGATTGTGTGGA 0.587000 51 80 0 0 0.000781405 0 0 OR2L8 391190 broad.mit.edu 37 1 248112603 248112603 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:248112603G>A uc001idt.1 + 0 444 c.444G>A c.(442-444)tgG>tgA p.W148* OR2L13_uc001ids.3_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA. 148 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) CAGGGTCTTGGATCATAGGCT 0.443000 118 65 0 0 0.000781405 0 0 ADHFE1 137872 broad.mit.edu 37 8 67364250 67364250 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:67364250C>T uc003xwb.4 + 8 831 c.797C>T c.(796-798)cCc>cTc p.P266L ADHFE1_uc003xwd.4_Non-coding_Transcript|ADHFE1_uc003xwc.4_Missense_Mutation_p.P218L|ADHFE1_uc003xwe.4_Non-coding_Transcript|ADHFE1_uc003xwf.4_Non-coding_Transcript|ADHFE1_uc011les.2_Missense_Mutation_p.P196L|ADHFE1_uc011leq.1_Non-coding_Transcript|ADHFE1_uc011ler.1_Non-coding_Transcript NM_144650 NP_653251 Q8IWW8 HOT_HUMAN Homo sapiens alcohol dehydrogenase, iron containing, 1 (ADHFE1), nuclear gene encoding mitochondrial protein, mRNA. 266 2-oxoglutarate metabolic process|molecular hydrogen transport mitochondrial matrix hydroxyacid-oxoacid transhydrogenase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 29 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) CCTTCAAATCCCATCACACGG 0.537000 42 16 0 0 0.000422831 0 0 PMFBP1 83449 broad.mit.edu 37 16 72156856 72156856 + Nonsense_Mutation SNP G A A rs140352254 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:72156856G>A uc002fcc.4 - 18 2912 c.2740C>T c.(2740-2742)Cga>Tga p.R914* PMFBP1_uc002fcd.3_Nonsense_Mutation_p.R909*|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Nonsense_Mutation_p.R764* NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA. 914 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) ACCTGCTCTCGGAGCTGGTTT 0.532000 75 25 0 0 0.0024448 0 0 WIPF2 147179 broad.mit.edu 37 17 38434469 38434469 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:38434469C>T uc002hug.1 + 7 1555 c.1315C>T c.(1315-1317)Ctc>Ttc p.L439F WIPF2_uc002huh.1_Missense_Mutation_p.L289F|WIPF2_uc010cww.1_Missense_Mutation_p.L289F|WIPF2_uc002hui.1_Missense_Mutation_p.L439F|WIPF2_uc010cwx.1_Missense_Mutation_p.L181F|WIPF2_uc010cwy.1_Missense_Mutation_p.L439F NM_133264 NP_573571 Q8TF74 WIPF2_HUMAN Homo sapiens WAS/WASL interacting protein family, member 2 (WIPF2), mRNA. 439 cytoplasm|cytoskeleton actin binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 30 GCCACCCATTCTCAGGTGAAG 0.512000 HNSCC(43;0.11) 16 4 0 0 0.00116845 0 0 DIAPH1 1729 broad.mit.edu 37 5 140953720 140953720 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140953720G>A uc003llb.4 - 15 1838 c.1697C>T c.(1696-1698)tCt>tTt p.S566F DIAPH1_uc003llc.4_Missense_Mutation_p.S557F|DIAPH1_uc021yep.1_Missense_Mutation_p.S566F|DIAPH1_uc021yeq.1_Missense_Mutation_p.S557F|DIAPH1_uc010jgc.1_Missense_Mutation_p.S5F NM_005219 NP_005210 O60610 DIAP1_HUMAN Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA. 566 regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane Rho GTPase binding|actin binding|receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCTGCCGCAGAGAGGGAAGC 0.498000 31 20 0 0 0.00278032 0 0 PSD2 84249 broad.mit.edu 37 5 139193033 139193033 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:139193033G>A uc003leu.1 + 2 716 c.511G>A c.(511-513)Gac>Aac p.D171N NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA. 171 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity p.S170S(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGATGAGAGCGACAGCTGCGT 0.657000 39 15 0 0 0.000308642 0 0 BHLHE40 8553 broad.mit.edu 37 3 5024874 5024875 + Missense_Mutation DNP GG AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:5024874_5024875GG>AA uc003bqf.3 + 4 1043_1044 c.736_737GG>AA c.(736-738)gga>AAa p.G246K BHLHE40_uc011asw.2_Missense_Mutation_p.G106K NM_003670 NP_003661 O14503 BHE40_HUMAN Homo sapiens basic helix-loop-helix family, member e40 (BHLHE40), mRNA. 246 Golgi apparatus|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2) 12 CAGTGGCTATGGAGGAGAATCG 0.584000 48 25 0 0 6.4e-05 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993259 140993259 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:140993259G>A uc004fbt.3 + 3 393 c.69G>A c.(67-69)caG>caA p.Q23Q MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_5'Flank NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 23 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGAGTCCTCAGAGTTGTCCTG 0.567000 HNSCC(15;0.026) 2 53 0 0 0.000781405 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232577037 232577037 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:232577037G>A uc001hvg.3 - 12 3800 c.3642_splice c.e12+1 p.H1214_splice SIPA1L2_uc001hvf.3_Splice_Site_p.H288_splice NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA. 1214 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) AAGGACTTACGTGAGAAAGCT 0.493000 501 118 0 0 0.000781405 0 0 PPFIA2 8499 broad.mit.edu 37 12 81751897 81751897 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:81751897C>T uc001szo.2 - 15 1898 c.1737G>A c.(1735-1737)agG>agA p.R579R PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Silent_p.R505R|PPFIA2_uc021rbh.1_Silent_p.R480R|PPFIA2_uc021rbi.1_Silent_p.R579R|PPFIA2_uc021rbj.1_Silent_p.R579R|PPFIA2_uc021rbk.1_Silent_p.R561R|PPFIA2_uc021rbl.1_Silent_p.R579R|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Silent_p.R146R|PPFIA2_uc021rbf.1_5'UTR NM_003625 NP_003616 B7Z663 B7Z663_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA. 505 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TGCGGCCTCTCCTTGGTCTTC 0.408000 6 5 0 0 0.00116845 0 0 MAEL 84944 broad.mit.edu 37 1 166963267 166963267 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:166963267G>A uc001gdy.1 + 4 555 c.484G>A c.(484-486)Gaa>Aaa p.E162K MAEL_uc021peh.1_Missense_Mutation_p.E106K|MAEL_uc001gdz.1_Missense_Mutation_p.E131K|MAEL_uc009wvf.1_Non-coding_Transcript NM_032858 NP_116247 Q96JY0 MAEL_HUMAN Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA. 162 DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 TATTATAGGTGAAATTCCACG 0.348000 36 7 0 0 0.000274275 0 0 PDILT 204474 broad.mit.edu 37 16 20373815 20373815 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:20373815C>T uc002dhc.1 - 9 1550 c.1327G>A c.(1327-1329)Gcc>Acc p.A443T NM_174924 NP_777584 Q8N807 PDILT_HUMAN Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA. 443 Thioredoxin. cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TCGATCTTGGCAATGATAATT 0.483000 31 19 0 0 0.00121646 0 0 GSDMA 284110 broad.mit.edu 37 17 38130527 38130527 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:38130527G>A uc002htl.1 + 9 870 c.752_splice c.e9-1 p.G251_splice GSDMA_uc002htm.1_Splice_Site_p.G251_splice NM_178171 NP_835465 Q96QA5 GSDMA_HUMAN Homo sapiens gasdermin A (GSDMA), mRNA. 251 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 TCCCCATAGGGGACGTACACG 0.557000 9 6 0 0 0.000442599 0 0 RPTN 126638 broad.mit.edu 37 1 152128155 152128156 + Missense_Mutation DNP GG TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:152128155_152128156GG>TT uc001ezs.1 - 2 1484_1485 c.1419_1420CC>AA c.(1417-1422)tcccac>tcAAac p.H474N NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN Homo sapiens repetin (RPTN), mRNA. 474 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TGACTGTAGTGGGAACTCTGGC 0.510000 621 11 0 0 6.4e-05 0 0 CNTN6 27255 broad.mit.edu 37 3 1424755 1424755 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:1424755G>A uc003boz.3 + 17 2563 c.2296G>A c.(2296-2298)Gaa>Aaa p.E766K CNTN6_uc011asj.2_Missense_Mutation_p.E694K|CNTN6_uc003bpa.3_Missense_Mutation_p.E766K NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN Homo sapiens contactin 6 (CNTN6), mRNA. 766 Fibronectin type-III 2. Notch signaling pathway|axon guidance|cell adhesion|central nervous system development anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CTACAGAAATGAAAGCATCAT 0.458000 40 9 0 0 0.000673444 0 0 ZNF267 10308 broad.mit.edu 37 16 31926270 31926270 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:31926270C>T uc002ecs.4 + 3 909 c.700C>T c.(700-702)Cat>Tat p.H234Y NM_003414 NP_003405 Q14586 ZN267_HUMAN Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA. 234 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 41 CCCTAAAAATCATCAGGAAAA 0.308000 13 8 0 0 0.000157383 0 0 KIF21B 23046 broad.mit.edu 37 1 200957646 200957646 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:200957646C>T uc001gvs.2 - 22 3642 c.3325G>A c.(3325-3327)Gag>Aag p.E1109K KIF21B_uc009wzl.2_Missense_Mutation_p.E1109K|KIF21B_uc001gvr.2_Missense_Mutation_p.E1109K|KIF21B_uc010ppn.2_Missense_Mutation_p.E1109K NM_001252100 NP_001239029 O75037 KI21B_HUMAN Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA. 1109 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TCTGAGATCTCCTCATCTGTG 0.597000 15 4 0 0 0.000602214 0 0 FRMPD4 9758 broad.mit.edu 37 X 12736325 12736325 + Missense_Mutation SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:12736325A>T uc004cuz.2 + 15 3886 c.3380A>T c.(3379-3381)gAa>gTa p.E1127V FRMPD4_uc011mij.2_Missense_Mutation_p.E1119V NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA. 1127 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 AGGGAGGCCGAAGGGAAGGAA 0.527000 107 70 0 0 0.000781405 0 0 LAMA1 284217 broad.mit.edu 37 18 7009357 7009357 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:7009357C>T uc002knm.3 - 26 3976 c.3882G>A c.(3880-3882)tgG>tgA p.W1294* LAMA1_uc010wzj.2_Nonsense_Mutation_p.W770* NM_005559 NP_005550 P25391 LAMA1_HUMAN Homo sapiens laminin, alpha 1 (LAMA1), mRNA. 1294 Laminin IV type A 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TAAAATATTTCCAAAAATTCT 0.343000 59 23 0 0 0.00188189 0 0 GBP1 2633 broad.mit.edu 37 1 89520397 89520398 + Missense_Mutation DNP CT TG TG rs150057659 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:89520397_89520398CT>TG uc001dmx.2 - 9 1852_1853 c.1632_1633AG>CA c.(1630-1635)aaagag>aaCAag p.544_545KE>NK NM_002053 NP_002044 P32455 GBP1_HUMAN Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA. 544 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 30 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) CTCTCTTGCTCTTTCAGCAACT 0.441000 474 65 0 0 6.4e-05 0 0 BC063132 0 broad.mit.edu 37 GL000241.1 36827 36827 + RNA SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrGL000241.1:36827G>A uc011mgv.2 - 0 c.49C>T Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors. GGCTCAGGACGAGTATGTGAC 0.577000 5 3 0 0 6.4e-05 0 0 CYP2A13 1553 broad.mit.edu 37 19 41600253 41600253 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:41600253C>T uc002opt.3 + 6 1086 c.1077C>T c.(1075-1077)atC>atT p.I359I NM_000766 NP_000757 Q16696 CP2AD_HUMAN Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA. 359 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) TCCACGAGATCCAAAGATTTG 0.552000 61 21 0 0 0.00229938 0 0 NLRP4 147945 broad.mit.edu 37 19 56382317 56382317 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:56382317C>T uc002qmd.4 + 6 2901 c.2479C>T c.(2479-2481)Ctc>Ttc p.L827F NLRP4_uc002qmf.3_Missense_Mutation_p.L752F|NLRP4_uc010etf.3_Missense_Mutation_p.L602F NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 827 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ACTGAAAACTCTCTGCGAGGC 0.502000 67 27 0 0 0.00127121 0 0 CACNA1C 775 broad.mit.edu 37 12 2224609 2224609 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:2224609A>G uc009zdu.1 + 1 582 c.269A>G c.(268-270)aAg>aGg p.K90R CACNA1C_uc001qkc.2_Missense_Mutation_p.K90R|CACNA1C_uc001qjz.2_Missense_Mutation_p.K90R|CACNA1C_uc001qkd.2_Missense_Mutation_p.K90R|CACNA1C_uc001qke.2_Missense_Mutation_p.K90R|CACNA1C_uc001qkf.2_Missense_Mutation_p.K90R|CACNA1C_uc009zdw.1_Missense_Mutation_p.K90R|CACNA1C_uc001qkg.2_Missense_Mutation_p.K90R|CACNA1C_uc001qkh.2_Missense_Mutation_p.K90R|CACNA1C_uc001qkl.2_Missense_Mutation_p.K90R|CACNA1C_uc001qkj.2_Missense_Mutation_p.K90R|CACNA1C_uc001qkk.2_Missense_Mutation_p.K90R|CACNA1C_uc001qkn.2_Missense_Mutation_p.K90R|CACNA1C_uc001qkm.2_Missense_Mutation_p.K90R|CACNA1C_uc001qko.2_Missense_Mutation_p.K90R|CACNA1C_uc001qkp.2_Missense_Mutation_p.K90R|CACNA1C_uc001qkq.2_Missense_Mutation_p.K90R|CACNA1C_uc001qku.2_Missense_Mutation_p.K90R|CACNA1C_uc001qkr.2_Missense_Mutation_p.K90R|CACNA1C_uc001qks.2_Missense_Mutation_p.K90R|CACNA1C_uc001qkt.2_Missense_Mutation_p.K90R|CACNA1C_uc009zdv.1_Missense_Mutation_p.K90R|CACNA1C_uc001qkb.2_Missense_Mutation_p.K90R NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 90 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GGGAAACCCAAGAAGCAGGGC 0.647000 32 17 0 0 0.000566183 0 0 IYD 389434 broad.mit.edu 37 6 150713566 150713566 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:150713566C>T uc003qnx.2 + 2 596 c.456C>T c.(454-456)atC>atT p.I152I IYD_uc003qnv.2_Silent_p.I152I|IYD_uc003qnu.2_Silent_p.I152I|IYD_uc003qnw.2_Non-coding_Transcript|IYD_uc010kik.2_Silent_p.I70I NM_001164694 NP_001158166 Q6PHW0 IYD1_HUMAN Homo sapiens iodotyrosine deiodinase (IYD), transcript variant 1, mRNA. 152 cellular nitrogen compound metabolic process|hormone biosynthetic process integral to membrane|plasma membrane p.I152M(4) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) TTCGAAAGATCATTGAGGAGG 0.522000 32 28 0 0 0.000720815 0 0 SLIT3 6586 broad.mit.edu 37 5 168620526 168620526 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:168620526G>A uc010jjg.3 - 3 790 c.370C>T c.(370-372)Ctt>Ttt p.L124F SLIT3_uc003mab.3_Missense_Mutation_p.L124F|SLIT3_uc010jji.2_Missense_Mutation_p.L124F NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 124 Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AATTCTGGAAGGACTTGCAGC 0.473000 38 49 0 0 0.000781405 0 0 TBX5 6910 broad.mit.edu 37 12 114793644 114793644 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:114793644G>A uc001tvo.3 - 8 1745 c.1250C>T c.(1249-1251)cCc>cTc p.P417L TBX5_uc001tvp.3_Missense_Mutation_p.P417L|TBX5_uc001tvq.3_Missense_Mutation_p.P367L NM_181486 NP_542448 Q99593 TBX5_HUMAN Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA. 417 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding p.P417S(1)|p.Q416L(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) CCTGTCCATGGGCTGCACGGT 0.662000 33 19 0 0 0.00074312 0 0 FAIM2 23017 broad.mit.edu 37 12 50291358 50291358 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:50291358G>A uc001rvj.2 - 3 509 c.324C>T c.(322-324)acC>acT p.T108T FAIM2_uc001rvi.2_Silent_p.T62T NM_012306 NP_036438 Q9BWQ8 FAIM2_HUMAN Homo sapiens Fas apoptotic inhibitory molecule 2 (FAIM2), mRNA. 108 anti-apoptosis|apoptosis cell junction|integral to membrane|postsynaptic membrane endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2) 14 TCAGCAGGATGGTGTAGACCT 0.592000 28 8 0 0 0.000442599 0 0 GLG1 2734 broad.mit.edu 37 16 74516938 74516938 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:74516938G>A uc002fcx.3 - 9 1706 c.1656C>T c.(1654-1656)ttC>ttT p.F552F GLG1_uc002fcw.4_Silent_p.F541F|GLG1_uc002fcy.4_Silent_p.F552F|GLG1_uc002fcz.4_Intron NM_012201 NP_036333 Q92896 GSLG1_HUMAN Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA. 552 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 CCCGGGAGATGAAATACTGCA 0.393000 79 37 0 0 0.00128727 0 0 OR5L1 219437 broad.mit.edu 37 11 55579002 55579002 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:55579002C>T uc001nhw.1 + 0 60 c.60C>T c.(58-60)gtC>gtT p.V20V NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA. 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TATCAGATGTCCCTGAGTTGA 0.458000 54 53 0 0 0.000781405 0 0 ITGA4 3676 broad.mit.edu 37 2 182376453 182376453 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:182376453G>A uc002unu.3 + 16 2636 c.1873G>A c.(1873-1875)Gaa>Aaa p.E625K ITGA4_uc010frj.1_Missense_Mutation_p.E107K NM_000885 NP_000876 P13612 ITA4_HUMAN Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA. 625 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TTGTGCCCATGAAAATTGTTC 0.299000 42 25 0 0 0.00127121 0 0 KERA 11081 broad.mit.edu 37 12 91449601 91449601 + Missense_Mutation SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:91449601T>C uc001tbl.3 - 1 1077 c.458A>G c.(457-459)aAg>aGg p.K153R NM_007035 NP_008966 O60938 KERA_HUMAN Homo sapiens keratocan (KERA), mRNA. 153 response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 TCTGGACACCTTATTTCTAGC 0.403000 6 9 0 0 0.000442599 0 0 CCDC144C 348254 broad.mit.edu 37 17 20224845 20224845 + RNA SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:20224845C>T uc010cqy.1 + 0 c.359C>T Homo sapiens coiled-coil domain containing 144C (CCDC144C), non-coding RNA. breast(2)|endometrium(1)|kidney(4)|lung(4)|prostate(1)|urinary_tract(1) 13 TAGACCAGCCCCAGCACGATG 0.652000 85 50 0 0 0.000781405 0 0 ZNF470 388566 broad.mit.edu 37 19 57089701 57089701 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 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 25 7 0 0 0.00198382 0 0 C8A 731 broad.mit.edu 37 1 57347252 57347252 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:57347252G>A uc001cyo.2 + 4 731 c.599G>A c.(598-600)gGa>gAa p.G200E NM_000562 NP_000553 P07357 CO8A_HUMAN Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA. 200 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 CTCTACTATGGAGATGATGAG 0.483000 31 5 0 0 0.00116845 0 0 F2RL2 2151 broad.mit.edu 37 5 75914462 75914462 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:75914462C>T uc003kem.3 - 1 255 c.70G>A c.(70-72)Gaa>Aaa p.E24K IQGAP2_uc003kek.3_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.2_Intron|IQGAP2_uc003kel.3_Intron|F2RL2_uc011csw.2_Missense_Mutation_p.E2K NM_004101 NP_004092 O00254 PAR3_HUMAN Homo sapiens coagulation factor II (thrombin) receptor-like 2 (F2RL2), mRNA. 24 platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3) 32 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) GTATCATTTTCCATGCCTGTA 0.338000 55 80 0 0 0.000781405 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51650079 51650079 + Missense_Mutation SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:51650079T>C uc002pvv.1 + 4 1165 c.1096T>C c.(1096-1098)Ttc>Ctc p.F366L SIGLEC7_uc002pvw.1_Missense_Mutation_p.F273L|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron NM_014385 NP_055200 Q9Y286 SIGL7_HUMAN Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA. 366 cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) AGCCCTGGTCTTCCTCTCCTT 0.587000 63 50 0 0 0.000781405 0 0 EFTUD2 9343 broad.mit.edu 37 17 42929143 42929143 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:42929143G>A uc002ihn.2 - 26 3019 c.2758C>T c.(2758-2760)Ccc>Tcc p.P920S EFTUD2_uc010wje.1_Missense_Mutation_p.P885S|EFTUD2_uc010wjf.1_Missense_Mutation_p.P910S NM_004247 NP_001136077 Q15029 U5S1_HUMAN Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA. 920 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) GGCTCCAAGGGGCGGATGACA 0.552000 20 9 0 0 0.000673444 0 0 CCDC13 152206 broad.mit.edu 37 3 42775086 42775086 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:42775086C>T uc003cly.4 - 10 1471 c.1387G>A c.(1387-1389)Gga>Aga p.G463R NM_144719 NP_653320 Q8IYE1 CCD13_HUMAN Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA. 463 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 TCACCCACTCCTTTATTCCGA 0.592000 63 16 0 0 0.000958276 0 0 TTC31 64427 broad.mit.edu 37 2 74718670 74718670 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:74718670C>T uc002slt.2 + 7 770 c.747C>T c.(745-747)ccC>ccT p.P249P TTC31_uc002sls.2_Silent_p.P178P|TTC31_uc002slu.2_Silent_p.P105P NM_022492 NP_071937 Q49AM3 TTC31_HUMAN Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA. 249 binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 GGGATTGGCCCCTCAGTGCCC 0.567000 141 135 0 0 0.000781405 0 0 C20orf152 140894 broad.mit.edu 37 20 34618321 34618321 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:34618321G>A uc002xer.1 + 11 1626 c.1470G>A c.(1468-1470)tgG>tgA p.W490* C20orf152_uc002xes.1_3'UTR|C20orf152_uc010gfp.1_Non-coding_Transcript NM_080834 NP_543024 Q96M20 CT152_HUMAN Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA. 494 breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1) 18 Breast(12;0.00631) AGAACAGCTGGAATATCTTTC 0.537000 117 33 0 0 0.00170553 0 0 IQCA1 79781 broad.mit.edu 37 2 237300694 237300694 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:237300694C>T uc002vwb.2 - 10 1393 c.1359G>A c.(1357-1359)caG>caA p.Q453Q IQCA1_uc002vvz.1_Silent_p.Q446Q|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Silent_p.Q405Q NM_024726 NP_079002 Q86XH1 IQCA1_HUMAN Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA. 446 Lys-rich. ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 TTTTAAGTTCCTGTCTCATCA 0.408000 179 35 0 0 0.00111076 0 0 SALL3 27164 broad.mit.edu 37 18 76754347 76754347 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:76754347G>A uc002lmt.3 + 1 2356 c.2356G>A c.(2356-2358)Gac>Aac p.D786N SALL3_uc010dra.3_Missense_Mutation_p.D393N NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA. 786 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) GCTGGCCTACGACGACAAGAA 0.652000 24 6 0 0 0.000157383 0 0 BARX2 8538 broad.mit.edu 37 11 129306793 129306793 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:129306793G>A uc001qfc.4 + 1 385 c.335G>A c.(334-336)gGg>gAg p.G112E NM_003658 NP_003649 Q9UMQ3 BARX2_HUMAN Homo sapiens BARX homeobox 2 (BARX2), mRNA. 112 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) GAGGCCCCAGGGGGCGAGGCC 0.687000 17 15 0 0 0.000422831 0 0 PDE1B 5153 broad.mit.edu 37 12 54966436 54966437 + Missense_Mutation DNP GG TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:54966436_54966437GG>TT uc001sgd.2 + 6 1039_1040 c.646_647GG>TT c.(646-648)ggg>TTg p.G216L PDE1B_uc010soz.2_Missense_Mutation_p.G79L|PDE1B_uc010spa.1_Missense_Mutation_p.G175L|PDE1B_uc001sge.3_Missense_Mutation_p.G196L|PDE1B_uc001sgf.3_Missense_Mutation_p.G79L|PDE1B_uc009znq.3_Missense_Mutation_p.G12L NM_000924 NP_000915 Q01064 PDE1B_HUMAN Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA. 216 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 GACAGGCTATGGGAAGTACAAG 0.510000 435 11 0 0 6.4e-05 0 0 OR4M1 441670 broad.mit.edu 37 14 20249337 20249337 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:20249337C>T uc010tku.2 + 0 856 c.856C>T c.(856-858)Ccc>Tcc p.P286S NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA. 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTTACTTAATCCCATTATTTA 0.368000 35 10 0 0 0.000442599 0 0 CEP290 80184 broad.mit.edu 37 12 88482980 88482980 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:88482980G>A uc001tar.3 - 30 4202 c.3858C>T c.(3856-3858)ttC>ttT p.F1286F CEP290_uc001taq.3_Silent_p.F346F NM_025114 NP_079390 O15078 CE290_HUMAN Homo sapiens centrosomal protein 290kDa (CEP290), mRNA. 1286 G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 TTGTTTTGGAGAACTTTTCCT 0.368000 23 9 0 0 0.000274275 0 0 ATP2A3 489 broad.mit.edu 37 17 3856645 3856645 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:3856645G>A uc002fwy.2 - 2 388 c.215C>T c.(214-216)tCc>tTc p.S72F ATP2A3_uc002fwz.2_Missense_Mutation_p.S72F|ATP2A3_uc002fxa.2_Missense_Mutation_p.S72F|ATP2A3_uc002fxb.2_Missense_Mutation_p.S72F|ATP2A3_uc002fxc.2_Missense_Mutation_p.S72F|ATP2A3_uc002fxd.2_Missense_Mutation_p.S72F|ATP2A3_uc002fwx.2_Missense_Mutation_p.S72F NM_174953 NP_777613 Q93084 AT2A3_HUMAN Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA. 72 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) ACTTACAAAGGAGACAAGGGC 0.637000 31 18 0 0 0.00188189 0 0 C12orf63 374467 broad.mit.edu 37 12 97043759 97043759 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:97043759C>T uc021rcc.1 + 1 134 c.56C>T c.(55-57)tCa>tTa p.S19L Q6ZTY8 CL063_HUMAN RecName: Full=Putative uncharacterized protein C12orf63; 19 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 GACTCTCAATCAGGTTCTAGT 0.338000 25 46 0 0 0.000781405 0 0 CACNA1E 777 broad.mit.edu 37 1 181726091 181726091 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:181726091G>A uc009wxt.3 + 29 4353 c.4158G>A c.(4156-4158)gaG>gaA p.E1386E CACNA1E_uc001gow.3_Silent_p.E1386E|CACNA1E_uc009wxs.3_Silent_p.E1367E|CACNA1E_uc001gox.1_Silent_p.E612E NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1386 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ATGTGACAGAGGAAGACCGAG 0.488000 124 45 0 0 0.000781405 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677213 37677213 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:37677213G>A uc002ofq.3 - 4 1478 c.1226C>T c.(1225-1227)tCg>tTg p.S409L ZNF585B_uc002ofr.1_Missense_Mutation_p.S223L NM_152279 NP_689492 Q52M93 Z585B_HUMAN Homo sapiens zinc finger protein 585B (ZNF585B), mRNA. 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GCATATATACGATTTTTCTCC 0.423000 52 40 0 0 0.00148497 0 0 DDB1 1642 broad.mit.edu 37 11 61070583 61070583 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:61070583G>A uc001nrc.4 - 22 3103 c.2877C>T c.(2875-2877)atC>atT p.I959I DDB1_uc010rle.1_Silent_p.I270I|DDB1_uc010rlf.1_Silent_p.I959I NM_001923 NP_001914 Q16531 DDB1_HUMAN Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA. 959 Interaction with CDT1 and CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 CATCATCCAAGATTTCCACAG 0.448000 Nucleotide excision repair (NER) 43 34 0 0 0.00128727 0 0 TMEM184B 25829 broad.mit.edu 37 22 38642014 38642014 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:38642014G>A uc003avf.1 - 2 509 c.285C>T c.(283-285)tcC>tcT p.S95S TMEM184B_uc003avh.2_Silent_p.S29S|TMEM184B_uc003avg.2_Silent_p.S95S|TMEM184B_uc010gxl.2_Non-coding_Transcript NM_001195071 NP_001182001 Q9Y519 T184B_HUMAN Homo sapiens transmembrane protein 184B (TMEM184B), transcript variant 2, mRNA. 95 integral to membrane endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1) 8 Melanoma(58;0.045) GGCTGAGCCAGGAGTCAAAGG 0.607000 127 28 0 0 0.00178596 0 0 CNDP1 84735 broad.mit.edu 37 18 72228244 72228244 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:72228244G>A uc002llq.3 + 3 668 c.457G>A c.(457-459)Gag>Aag p.E153K BC047599_uc002llr.3_5'Flank NM_032649 NP_116038 Q96KN2 CNDP1_HUMAN Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA. 153 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity p.T152M(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) TGTGCTGACGGAGGTAGACGG 0.622000 64 19 0 0 0.00152264 0 0 TRIML1 339976 broad.mit.edu 37 4 189060977 189060977 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:189060977G>A uc003izm.1 + 0 380 c.265G>A c.(265-267)Gag>Aag p.E89K NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA. 89 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GCTGCAGAGCGAGGATGAGCA 0.662000 13 23 0 0 0.00229938 0 0 LEPREL1 55214 broad.mit.edu 37 3 189706745 189706745 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:189706745C>T uc011bsk.2 - 3 1294 c.906G>A c.(904-906)gaG>gaA p.E302E LEPREL1_uc003fsg.3_Silent_p.E121E NM_018192 NP_001127890 Q8IVL5 P3H2_HUMAN Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA. 302 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) GAAGAAAATTCTCGATGGGAG 0.498000 48 22 0 0 0.00229938 0 0 C12orf51 283450 broad.mit.edu 37 12 112622558 112622558 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:112622558G>A uc021reb.1 - 60 10206 c.9810C>T c.(9808-9810)atC>atT p.I3270I NM_001109662 NP_001103132 Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6) 100 GGTGGGTGGGGATCCCGGAGA 0.687000 76 33 0 0 0.0024448 0 0 CYP11B2 1585 broad.mit.edu 37 8 143994724 143994724 + Silent SNP C T T rs61757297 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:143994724C>T uc003yxk.1 - 5 1101 c.1098G>A c.(1096-1098)cgG>cgA p.R366R NM_000498 NP_000489 P19099 C11B2_HUMAN Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA. 366 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity p.R366R(1) cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) TGAGGGCCGCCCGCAGCAAGG 0.692000 Familial Hyperaldosteronism type I 29 32 0 0 0.000781405 0 0 OR2M2 391194 broad.mit.edu 37 1 248343329 248343329 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:248343329C>T uc010pzf.2 + 0 42 c.42C>T c.(40-42)ctC>ctT p.L14L NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA. 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ACTTCATCCTCCTTGGAATCT 0.433000 128 32 0 0 0.000814825 0 0 GPRC5A 9052 broad.mit.edu 37 12 13061549 13061549 + Silent SNP C T T rs142201347 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:13061549C>T uc001rba.3 + 1 1016 c.366C>T c.(364-366)ctC>ctT p.L122L NM_003979 NP_003970 Q8NFJ5 RAI3_HUMAN Homo sapiens G protein-coupled receptor, family C, group 5, member A (GPRC5A), mRNA. 122 Golgi apparatus|cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 18 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) TGACCAAGCTCGTCCGGGGGA 0.557000 135 38 0 0 0.00128727 0 0 SP140 11262 broad.mit.edu 37 2 231103072 231103072 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:231103072G>A uc002vql.3 + 2 497 c.382G>A c.(382-384)Gag>Aag p.E128K SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqj.3_Missense_Mutation_p.E128K|SP140_uc002vqk.2_Missense_Mutation_p.E128K|SP140_uc002vqn.3_Missense_Mutation_p.E128K|SP140_uc002vqm.3_Missense_Mutation_p.E128K|SP140_uc010fxl.3_Missense_Mutation_p.E128K NM_007237 NP_009168 Q13342 LY10_HUMAN Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA. 128 HSR. defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TGATTTAAACGAGATTTACAG 0.408000 30 24 0 0 0.000720815 0 0 DDC 1644 broad.mit.edu 37 7 50607688 50607688 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:50607688G>A uc003tpg.4 - 2 441 c.240C>T c.(238-240)ttC>ttT p.F80F DDC_uc022ade.1_Intron|DDC_uc003tpf.4_Silent_p.F80F|DDC_uc022adb.1_Intron|DDC_uc022adc.1_Silent_p.F80F|DDC_uc022add.1_Silent_p.F80F|DDC_uc022adf.1_Silent_p.F80F|LOC100129427_uc022adg.1_Non-coding_Transcript NM_001082971 NP_001076440 P20711 DDC_HUMAN Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA. 80 2 X approximate tandem repeats. cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding p.Y79F(1) 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) TGGCAGTGGGGAAGTAGGCGA 0.642000 25 9 0 0 0.000442599 0 0 OR51V1 283111 broad.mit.edu 37 11 5221178 5221178 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:5221178G>A uc010qyz.2 - 0 753 c.753C>T c.(751-753)atC>atT p.I251I NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA. 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGATGTGGGAGATGCAGGTCT 0.483000 18 14 0 0 0.00185496 0 0 STXBP6 29091 broad.mit.edu 37 14 25443984 25443984 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:25443984G>A uc001wpu.3 - 1 756 c.41C>T c.(40-42)cCt>cTt p.P14L STXBP6_uc001wpv.3_Missense_Mutation_p.P14L|STXBP6_uc001wpw.3_Missense_Mutation_p.P14L|STXBP6_uc001wpx.1_Non-coding_Transcript NM_014178 NP_054897 Q8NFX7 STXB6_HUMAN Homo sapiens syntaxin binding protein 6 (amisyn) (STXBP6), mRNA. 14 vesicle-mediated transport cytoplasm|integral to membrane central_nervous_system(2)|endometrium(2)|large_intestine(3) 7 GBM - Glioblastoma multiforme(265;0.0296) TTCATCAAGAGGTGCAAAAAT 0.408000 21 5 0 0 0.000602214 0 0 CACNA2D3 55799 broad.mit.edu 37 3 55002514 55002514 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:55002514G>A uc003dhf.3 + 27 2535 c.2487G>A c.(2485-2487)agG>agA p.R829R CACNA2D3_uc003dhg.1_Silent_p.R735R|CACNA2D3_uc003dhh.1_Non-coding_Transcript NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA. 829 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TTTTCCAAAGGAAGTTCTGGA 0.378000 17 5 0 0 0.00198382 0 0 RAB9BP1 9366 broad.mit.edu 37 5 104435377 104435377 + RNA SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:104435377G>A uc003kok.3 + 0 c.203G>A Homo sapiens RAB9B, member RAS oncogene family pseudogene 1 (RAB9BP1), non-coding RNA. GGTCAGGAGTGATTCTGAAGC 0.413000 29 15 0 0 0.000422831 0 0 SKAP2 8935 broad.mit.edu 37 7 26883685 26883685 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:26883685C>T uc003syc.3 - 3 564 c.271G>A c.(271-273)Gaa>Aaa p.E91K SKAP2_uc011jzi.2_5'UTR|SKAP2_uc011jzj.2_Missense_Mutation_p.E76K NM_003930 NP_003921 O75563 SKAP2_HUMAN Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA. 91 B cell activation|cell junction assembly|protein complex assembly|signal transduction cytosol|plasma membrane SH3/SH2 adaptor activity haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3) 17 TCATATCGTTCTGAGGCTAAT 0.403000 205 36 0 0 0.00128727 0 0 DSP 1832 broad.mit.edu 37 6 7580358 7580358 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:7580358C>T uc003mxp.1 + 22 4214 c.3935C>T c.(3934-3936)tCc>tTc p.S1312F DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Missense_Mutation_p.S1312F NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 1312 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CACAAGCAGTCCCTGGAGGAG 0.532000 42 97 0 0 0.000781405 0 0 PRAMEF17 391004 broad.mit.edu 37 1 13716832 13716832 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:13716832G>A uc009vnz.1 + 1 349 c.319G>A c.(319-321)Gat>Aat p.D107N NM_001099851 NP_001093321 Q5VTA0 PRA17_HUMAN Homo sapiens PRAME family member 17 (PRAMEF17), mRNA. 107 kidney(1)|lung(2) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGATTTGCGGGATGTTGATGG 0.522000 119 22 0 0 0.000680045 0 0 LPHN3 23284 broad.mit.edu 37 4 62813848 62813848 + Missense_Mutation SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:62813848T>A uc010ihh.3 + 13 2628 c.2455T>A c.(2455-2457)Tca>Aca p.S819T LPHN3_uc003hcq.4_Missense_Mutation_p.S819T|LPHN3_uc003hct.3_Missense_Mutation_p.S212T NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN Homo sapiens latrophilin 3 (LPHN3), mRNA. 806 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CCCTAACTGTTCATTTTGGAG 0.378000 19 6 0 0 0.00116845 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130275642 130275642 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:130275642G>A uc001qgg.4 - 8 2839 c.2481C>T c.(2479-2481)atC>atT p.I827I ADAMTS8_uc001qgf.3_Silent_p.I308I NM_007037 NP_008968 Q9UP79 ATS8_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA. 827 Spacer. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GCGGCTGGATGATGTTGGTGG 0.577000 62 50 0 0 0.000781405 0 0 PPP3R2 5535 broad.mit.edu 37 9 104356958 104356958 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:104356958G>A uc004bbr.3 - 0 326 c.255C>T c.(253-255)ttC>ttT p.F85F GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron NM_147180 NP_671709 Q96LZ3 CANB2_HUMAN Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA. 82 EF-hand 2. calcium ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) CCTTGACGCTGAACTGGGAGG 0.552000 85 58 0 0 0.000781405 0 0 STARD6 147323 broad.mit.edu 37 18 51851088 51851088 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:51851088C>T uc010xdt.2 - 5 637 c.637G>A c.(637-639)Gga>Aga p.G213R NM_139171 NP_631910 P59095 STAR6_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA. 213 lipid transport lipid binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2) 8 Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188) TGATGAAATCCACGTCTTGAT 0.358000 82 19 0 0 0.00278032 0 0 C1orf94 84970 broad.mit.edu 37 1 34667830 34667830 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:34667830C>T uc001bxt.3 + 3 2254 c.1416C>T c.(1414-1416)ttC>ttT p.F472F C1orf94_uc001bxs.4_Silent_p.F282F NM_001134734 NP_116273 Q6P1W5 CA094_HUMAN Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA. 282 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) CACCAGTGTTCACGAATCACT 0.547000 93 29 0 0 0.00058488 0 0 SLC6A4 6532 broad.mit.edu 37 17 28536188 28536188 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:28536188C>T uc002hey.4 - 11 2066 c.1522G>A c.(1522-1524)Gaa>Aaa p.E508K SLC6A4_uc010csg.3_Intron NM_001045 NP_001036 P31645 SC6A4_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA. 508 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) GCGACTGCTTCGATCAGCGCG 0.597000 61 23 0 0 0.00278032 0 0 MIP 4284 broad.mit.edu 37 12 56847452 56847452 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:56847452C>T uc001slh.3 - 1 486 c.448G>A c.(448-450)Gac>Aac p.D150N NM_012064 NP_036196 P30301 MIP_HUMAN Homo sapiens major intrinsic protein of lens fiber (MIP), mRNA. 150 response to stimulus|visual perception gap junction|integral to plasma membrane structural constituent of eye lens kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 16 CGCCTCTCGTCGTATGTGGCA 0.602000 28 11 0 0 0.00136819 0 0 ITGB3BP 23421 broad.mit.edu 37 1 63955797 63955797 + Silent SNP G T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:63955797G>T uc001dbb.2 - 3 398 c.258C>A c.(256-258)ccC>ccA p.P86P ITGB3BP_uc001dbc.2_Non-coding_Transcript|ITGB3BP_uc001dba.2_Silent_p.P47P|ITGB3BP_uc009wak.1_Silent_p.P69P NM_001206739 NP_001193668 Q13352 CENPR_HUMAN Homo sapiens integrin beta 3 binding protein (beta3-endonexin) (ITGB3BP), transcript variant 1, mRNA. 47 CenH3-containing nucleosome assembly at centromere|apoptosis|cell adhesion|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm protein C-terminus binding|signal transducer activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 9 CAGAACTTGTGGGAGAAGCAA 0.338000 60 5 0.000602214 0.00218364 0.000602214 1 0 CALR3 125972 broad.mit.edu 37 19 16590049 16590049 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:16590049C>T uc002ned.2 - 8 1111 c.1048G>A c.(1048-1050)Gag>Aag p.E350K MED26_uc002nee.2_Non-coding_Transcript NM_145046 NP_659483 Q96L12 CALR3_HUMAN Homo sapiens calreticulin 3 (CALR3), mRNA. 350 C-domain.|Glu/Lys-rich. protein folding endoplasmic reticulum lumen calcium ion binding|sugar binding|unfolded protein binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1) 15 TTCATTTCCTCCTTGGCCTGT 0.498000 132 32 0 0 0.0024448 0 0 C12orf35 55196 broad.mit.edu 37 12 32134418 32134418 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:32134418C>T uc001rks.3 + 3 943 c.529C>T c.(529-531)Cct>Tct p.P177S NM_018169 NP_060639 Q9HCM1 CL035_HUMAN Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA. 177 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 59 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) TACACGACTTCCTGTAGCTTA 0.423000 53 21 0 0 0.00047179 0 0 WNT10B 7480 broad.mit.edu 37 12 49360220 49360220 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:49360220C>T uc001rss.3 - 4 1272 c.828G>A c.(826-828)agG>agA p.R276R WNT10B_uc001rst.3_3'UTR NM_003394 NP_003385 O00744 WN10B_HUMAN Homo sapiens wingless-type MMTV integration site family, member 10B (WNT10B), mRNA. 276 Wnt receptor signaling pathway, calcium modulating pathway|axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4) 23 CCAGCCGCTCCCTCAACGCCG 0.632000 25 37 0 0 0.00128727 0 0 ATP8B4 79895 broad.mit.edu 37 15 50215689 50215689 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:50215689G>A uc001zxu.3 - 16 1787 c.1645C>T c.(1645-1647)Cga>Tga p.R549* ATP8B4_uc010ber.3_Nonsense_Mutation_p.R422*|ATP8B4_uc010ufd.2_Nonsense_Mutation_p.R359*|ATP8B4_uc010ufe.2_Non-coding_Transcript NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA. 549 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) TCTGGGTTTCGAACTGAAAAG 0.378000 20 7 0 0 0.000274275 0 0 ABCC3 8714 broad.mit.edu 37 17 48745355 48745355 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:48745355C>T uc002isl.3 + 12 1847 c.1767C>T c.(1765-1767)atC>atT p.I589I NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 589 ABC transmembrane type-1 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CCCAGTTAATCAGCAACCTGA 0.522000 30 16 0 0 0.000308642 0 0 OTOGL 283310 broad.mit.edu 37 12 80746107 80746107 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:80746107G>A uc001szd.3 + 43 5277 c.5271G>A c.(5269-5271)tgG>tgA p.W1757* NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 AAAAGATGTGGATCAATTATA 0.358000 23 6 0 0 0.00198382 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140223341 140223341 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140223341G>A uc003lhr.1 + 0 2435 c.2435G>A c.(2434-2436)tGg>tAg p.W812* PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron NM_031856 NP_114062 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 2, mRNA. 0 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTATTTGTGGAAATTGTAG 0.279000 46 13 0 0 0.00185496 0 0 RIN3 79890 broad.mit.edu 37 14 93154591 93154591 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:93154591C>T uc001yap.3 + 9 3104 c.2952C>T c.(2950-2952)ttC>ttT p.F984F RIN3_uc010auk.3_Silent_p.F646F|RIN3_uc001yaq.3_Silent_p.F909F NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA. 984 endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) AGCCCAACTTCCTGTGAGGCC 0.751000 5 11 0 0 0.000978159 0 0 CGB 1082 broad.mit.edu 37 19 49527216 49527216 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:49527216G>A uc002plv.2 - 0 417 c.13C>T c.(13-15)Cag>Tag p.Q5* NM_000737 NP_000728 P01233 CGHB_HUMAN Homo sapiens chorionic gonadotropin, beta polypeptide (CGB), mRNA. 5 apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction extracellular region|soluble fraction hormone activity large_intestine(1) 1 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) Choriogonadotropin alfa(DB00097) AGTCTTACCTGGAACATCTCC 0.607000 90 25 0 0 0.000781405 0 0 OR51I1 390063 broad.mit.edu 37 11 5462682 5462682 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:5462682C>T uc010qze.2 - 0 102 c.63G>A c.(61-63)ggG>ggA p.G21G HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001005288 NP_001005288 Q9H343 O51I1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA. 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G21A(1) central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGTTTGTATCCCAGGAATGC 0.522000 8 8 0 0 0.00136819 0 0 FBXW8 26259 broad.mit.edu 37 12 117465961 117465961 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:117465961C>T uc001twg.1 + 10 1863 c.1781C>T c.(1780-1782)cCc>cTc p.P594L FBXW8_uc001twf.1_Missense_Mutation_p.P528L|FBXW8_uc021rel.1_5'Flank NM_153348 NP_699179 Q8N3Y1 FBXW8_HUMAN Homo sapiens F-box and WD repeat domain containing 8 (FBXW8), transcript variant 1, mRNA. 594 protein binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 22 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0353) CTGGCCTTTCCCTATAACCAT 0.532000 16 27 0 0 0.00127121 0 0 TSC2 7249 broad.mit.edu 37 16 2129313 2129313 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:2129313G>A uc002con.3 + 27 3274 c.3168G>A c.(3166-3168)agG>agA p.R1056R TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Silent_p.R1056R|TSC2_uc002coo.3_Silent_p.R1012R|TSC2_uc010uvv.2_Silent_p.R976R|TSC2_uc010uvw.2_Silent_p.R964R|TSC2_uc002cop.3_Silent_p.R812R NM_000548 NP_000539 P49815 TSC2_HUMAN Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA. 1056 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) CGGGTGGCAGGACCAAAACCT 0.642000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 23 43 0 0 0.000781405 0 0 KIAA1161 57462 broad.mit.edu 37 9 34372144 34372144 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:34372144G>A uc003zue.4 - 2 962 c.795C>T c.(793-795)ccC>ccT p.P265P NM_020702 NP_065753 Q6NSJ0 K1161_HUMAN Homo sapiens KIAA1161 (KIAA1161), mRNA. 266 carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds p.R265C(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) GTGGCTTGTAGGGCGTGTCGT 0.667000 24 12 0 0 0.000308642 0 0 SPATA6 54558 broad.mit.edu 37 1 48764525 48764525 + Missense_Mutation SNP C T T rs147329302 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:48764525C>T uc001crr.2 - 12 1523 c.1327G>A c.(1327-1329)Ggt>Agt p.G443S SPATA6_uc001crs.2_Missense_Mutation_p.G427S|SPATA6_uc010omv.2_Missense_Mutation_p.G429S NM_019073 NP_061946 Q9NWH7 SPAT6_HUMAN Homo sapiens spermatogenesis associated 6 (SPATA6), mRNA. 443 cell differentiation|multicellular organismal development|spermatogenesis extracellular region breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 21 CAGTATTCACCGTCATCCAAA 0.398000 89 24 0 0 0.00047179 0 0 CELF2 10659 broad.mit.edu 37 10 11047405 11047405 + Splice_Site SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:11047405T>A uc010qbj.1 + 1 145 c.53_splice c.e1+2 p.S18_splice CELF2_uc010qbi.2_Splice_Site|CELF2_uc001iki.4_Splice_Site_p.S18_splice NM_001025076 NP_001020247 O95319 CELF2_HUMAN Homo sapiens CUGBP, Elav-like family member 2 (CELF2), transcript variant 1, mRNA. 18 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion. mRNA processing|regulation of heart contraction cytoplasm|nucleus RNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 GCTTTTAAGGTATGTTGTTGT 0.393000 67 48 0 0 0.000781405 0 0 PLXNA4 91584 broad.mit.edu 37 7 131831286 131831286 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:131831286G>A uc003vra.4 - 27 5267 c.5038C>T c.(5038-5040)Cga>Tga p.R1680* PLXNA4_uc003vqz.4_5'Flank NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 1680 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GCCAGGAGTCGGGTCAGGTAG 0.567000 238 84 0 0 0.000781405 0 0 BMP10 27302 broad.mit.edu 37 2 69093550 69093550 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:69093550C>T uc002sez.1 - 1 647 c.488G>A c.(487-489)cGg>cAg p.R163Q NM_014482 NP_055297 O95393 BMP10_HUMAN Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA. 163 BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis Z disc|cell surface|extracellular space cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 GGTAATTTTCCGGTCTACTCC 0.443000 43 8 0 0 0.000442599 0 0 FCRL2 79368 broad.mit.edu 37 1 157738411 157738411 + Missense_Mutation SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:157738411A>C uc001fre.2 - 4 735 c.676T>G c.(676-678)Tgc>Ggc p.C226G FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.C226G|FCRL2_uc009wsp.2_Intron NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Homo sapiens Fc receptor-like 2 (FCRL2), mRNA. 226 Ig-like C2-type 3. cell-cell signaling integral to membrane|plasma membrane|soluble fraction SH3/SH2 adaptor activity|receptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GCCACTGAGCAGAGCAGGATC 0.522000 179 38 0 0 0.00170553 0 0 PRDM10 56980 broad.mit.edu 37 11 129814708 129814708 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:129814708G>A uc001qfm.3 - 5 952 c.720C>T c.(718-720)ctC>ctT p.L240L PRDM10_uc001qfj.3_Silent_p.L154L|PRDM10_uc001qfk.3_Silent_p.L154L|PRDM10_uc001qfl.3_Silent_p.L154L|PRDM10_uc010sbx.2_Silent_p.L154L|PRDM10_uc001qfn.3_Silent_p.L240L|PRDM10_uc009zct.1_Silent_p.L272L NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA. 240 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) AGCCCCTGACGAGAGGCCCCT 0.562000 40 23 0 0 0.00047179 0 0 ACSM5 54988 broad.mit.edu 37 16 20442382 20442382 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:20442382C>T uc002dhe.3 + 8 1340 c.1193C>T c.(1192-1194)cCc>cTc p.P398L NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA. 398 fatty acid metabolic process mitochondrial matrix ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 GCGTCCCCACCCTACGATGTG 0.567000 98 42 0 0 0.00285205 0 0 EPHB1 2047 broad.mit.edu 37 3 134851795 134851795 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:134851795C>T uc003eqt.3 + 4 1576 c.1201C>T c.(1201-1203)Ccc>Tcc p.P401S EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_3'UTR|EPHB1_uc003equ.3_5'UTR NM_004441 NP_004432 P54762 EPHB1_HUMAN Homo sapiens EPH receptor B1 (EPHB1), mRNA. 401 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding p.T400I(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GGCCCACACCCCCTACACCTT 0.607000 20 12 0 0 0.000978159 0 0 HMGCR 3156 broad.mit.edu 37 5 74645866 74645867 + Splice_Site DNP GG TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:74645866_74645867GG>TT uc011cst.2 + 7 869 c.617_splice c.e7-1 p.G206_splice HMGCR_uc003kdp.3_Splice_Site_p.G186_splice|HMGCR_uc003kdq.3_Splice_Site_p.G186_splice|HMGCR_uc010izn.1_Splice_Site_p.G26_splice NM_000859 NP_000850 P04035 HMDH_HUMAN Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA. 186 cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 20 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) TCTCTAACCAGGGGTACGTCAG 0.391000 412 10 0 0 6.4e-05 0 0 PJA2 9867 broad.mit.edu 37 5 108673046 108673046 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:108673046G>A uc003kos.4 - 9 2233 c.2013C>T c.(2011-2013)tgC>tgT p.C671C JA429135_uc021ycd.1_5'Flank NM_014819 NP_055634 O43164 PJA2_HUMAN Homo sapiens praja ring finger 2 (PJA2), mRNA. 671 Interaction with PRKAR1A, PRKAR2A and PRKAR2B. long-term memory|regulation of protein kinase A signaling cascade Golgi membrane|cell junction|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) GGCACACAGGGCATGTTCCCG 0.448000 36 9 0 0 0.000274275 0 0 ASTL 431705 broad.mit.edu 37 2 96789615 96789615 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:96789615G>A uc010yui.2 - 8 1270 c.1270C>T c.(1270-1272)Cat>Tat p.H424Y NM_001002036 NP_001002036 Q6HA08 ASTL_HUMAN Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA. 424 proteolysis metalloendopeptidase activity|zinc ion binding p.N423H(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 CCCTTGAAATGATTTCTAGGT 0.577000 51 27 0 0 0.00178596 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54933883 54933883 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:54933883C>T uc003dhf.3 + 26 2485 c.2437C>T c.(2437-2439)Cct>Tct p.P813S CACNA2D3_uc003dhg.1_Missense_Mutation_p.P719S|CACNA2D3_uc003dhh.1_Non-coding_Transcript|AK092143_uc003dhk.1_Intron NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA. 813 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) ACGGAAATCTCCTGTGGTGGC 0.453000 9 5 0 0 0.00116845 0 0 FAM161A 84140 broad.mit.edu 37 2 62067001 62067001 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:62067001G>A uc002sbm.4 - 2 1240 c.1138C>T c.(1138-1140)Cga>Tga p.R380* FAM161A_uc002sbn.4_Nonsense_Mutation_p.R190*|FAM161A_uc010ypo.2_Nonsense_Mutation_p.R380*|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_Nonsense_Mutation_p.R271* NM_001201543 NP_001188472 Q3B820 F161A_HUMAN Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA. 380 response to stimulus|visual perception centrosome breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CTAAGGTTTCGATAGAGCTCT 0.433000 48 44 0 0 0.00285205 0 0 PTPRT 11122 broad.mit.edu 37 20 40709567 40709567 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:40709567C>T uc002xkg.3 - 30 4462 c.4278G>A c.(4276-4278)caG>caA p.Q1426Q PTPRT_uc010ggj.3_Silent_p.Q1445Q|PTPRT_uc010ggi.3_Silent_p.Q629Q NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 1426 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CAAATTTATACTGTTCCTgag 0.483000 57 19 0 0 0.000958276 0 0 C1orf168 199920 broad.mit.edu 37 1 57257903 57257903 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:57257903G>A uc001cym.4 - 1 989 c.583C>T c.(583-585)Cct>Tct p.P195S C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.P195S NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA. 195 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 TTCTGGGAAGGAAGAGTCTGG 0.468000 82 23 0 0 0.00047179 0 0 DSC1 1823 broad.mit.edu 37 18 28720073 28720073 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:28720073G>A uc002kwn.3 - 9 1714 c.1452C>T c.(1450-1452)ttC>ttT p.F484F DSC1_uc002kwm.3_Silent_p.F484F NM_024421 NP_077739 Q08554 DSC1_HUMAN Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA. 484 Cadherin 4. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) GGCCAGCTGGGAAGCCATCTT 0.443000 80 12 0 0 0.00185496 0 0 TTC18 118491 broad.mit.edu 37 10 75037095 75037095 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:75037095G>A uc009xrc.3 - 21 2754 c.2633C>T c.(2632-2634)tCa>tTa p.S878L TTC18_uc001jty.3_Missense_Mutation_p.S878L|TTC18_uc001jtv.4_5'UTR|TTC18_uc001jtw.4_5'UTR|TTC18_uc001jtx.3_Missense_Mutation_p.S259L NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA. 878 binding p.S877*(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) CAGAAGAGCTGATGAATCTTG 0.388000 36 25 0 0 0.000586117 0 0 DHRS7 51635 broad.mit.edu 37 14 60620752 60620752 + Silent SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:60620752A>G uc001xes.3 - 2 502 c.318T>C c.(316-318)ctT>ctC p.L106L C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.3_Silent_p.L56L NM_016029 NP_057113 Q9Y394 DHRS7_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) member 7 (DHRS7), mRNA. 106 binding|oxidoreductase activity endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(108;0.121) GGGGCAAAACAAGTATATCTT 0.398000 26 35 0 0 0.00195071 0 0 IL18R1 8809 broad.mit.edu 37 2 102984507 102984507 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:102984507G>A uc002tbw.4 + 2 431 c.281G>A c.(280-282)gGa>gAa p.G94E IL18R1_uc010ywb.1_Missense_Mutation_p.G94E|IL18R1_uc010ywd.2_Intron|IL18R1_uc010fiy.3_Missense_Mutation_p.G94E|IL18R1_uc010ywc.2_Missense_Mutation_p.G94E NM_003855 NP_003846 Q13478 IL18R_HUMAN Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA. 94 Ig-like C2-type 1. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 AATGACACAGGATCTTACTTT 0.408000 124 33 0 0 0.000953801 0 0 ZNF92 168374 broad.mit.edu 37 7 64864337 64864337 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:64864337C>T uc003ttz.3 + 3 1453 c.1310C>T c.(1309-1311)tCc>tTc p.S437F ZNF92_uc003tua.3_Missense_Mutation_p.S368F|ZNF92_uc010kzu.3_Missense_Mutation_p.S405F|ZNF92_uc003tub.3_Missense_Mutation_p.S361F|ZNF92_uc022afd.1_Intron NM_152626 NP_009070 Q03936 ZNF92_HUMAN Homo sapiens zinc finger protein 92 (ZNF92), transcript variant 2, mRNA. 437 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) TTTAGCTGGTCCTCAGCTTTT 0.363000 16 13 0 0 0.00185496 0 0 RIF1 55183 broad.mit.edu 37 2 152321761 152321761 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:152321761C>T uc002txm.3 + 29 5888 c.5727C>T c.(5725-5727)tcC>tcT p.S1909S RIF1_uc002txn.3_Silent_p.S1909S|RIF1_uc002txl.3_Silent_p.S1909S|RIF1_uc002txo.3_Silent_p.S1909S|RIF1_uc002txp.3_Non-coding_Transcript NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA. 1909 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) TAACAGAATCCAATCTAGAGA 0.363000 101 31 0 0 0.00283554 0 0 MYH8 4626 broad.mit.edu 37 17 10312654 10312654 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:10312654C>T uc002gmm.2 - 15 1934 c.1839G>A c.(1837-1839)caG>caA p.Q613Q AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 613 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TTGCAGACTTCTGGTACAGCC 0.443000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 7 43 0 0 0.00285205 0 0 COL7A1 1294 broad.mit.edu 37 3 48616938 48616938 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:48616938C>T uc003ctz.2 - 58 5247 c.5246G>A c.(5245-5247)gGg>gAg p.G1749E COL7A1_uc021wxp.1_5'Flank NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 1749 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) TCCCCGAAACCCTTCAATGCC 0.607000 38 13 0 0 0.00185496 0 0 ATP7B 540 broad.mit.edu 37 13 52520510 52520510 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:52520510G>A uc001vfw.2 - 12 3127 c.2970C>T c.(2968-2970)gcC>gcT p.A990A ATP7B_uc001vfy.2_Silent_p.A879A|ATP7B_uc010adv.2_Silent_p.A560A|ATP7B_uc001vfx.2_Silent_p.A783A|ATP7B_uc010tgt.1_Intron|ATP7B_uc010tgu.1_Silent_p.A942A|ATP7B_uc010tgv.1_Silent_p.A912A|ATP7B_uc001vfv.2_Silent_p.A262A|ATP7B_uc010tgs.1_Silent_p.A262A NM_000053 NP_000044 P35670 ATP7B_HUMAN Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA. 990 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CCGTGGGCGTGGCCAGCCCCA 0.637000 Wilson disease 0 23 0 0 0.00278032 0 0 ABCG1 9619 broad.mit.edu 37 21 43702436 43702436 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:43702436C>T uc011aev.2 + 5 748 c.674C>T c.(673-675)aCc>aTc p.T225I ABCG1_uc002zam.3_Missense_Mutation_p.T192I|ABCG1_uc002zan.3_Missense_Mutation_p.T216I|ABCG1_uc002zao.3_Missense_Mutation_p.T211I|ABCG1_uc002zap.3_Missense_Mutation_p.T214I|ABCG1_uc002zaq.3_Missense_Mutation_p.T214I|ABCG1_uc002zar.3_Missense_Mutation_p.T225I NM_004915 NP_004906 P45844 ABCG1_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA. 214 ABC transporter. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity p.R224H(1) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) AACACGCGGACCGGGAGCCTG 0.612000 3 42 0 0 0.000680045 0 0 CAMK1 8536 broad.mit.edu 37 3 9804897 9804897 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:9804897C>T uc003bst.3 - 4 401 c.216_splice c.e4-1 p.K72_splice OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_5'Flank|AX748417_uc003bsv.1_Non-coding_Transcript NM_003656 NP_003647 Q14012 KCC1A_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA. 72 Protein kinase. cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 12 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.0475) GGTGCTTGATCCTGAAAGGAG 0.562000 93 27 0 0 0.00283554 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140221000 140221000 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140221000C>T uc003lhs.2 + 0 94 c.94C>T c.(94-96)Cac>Tac p.H32Y PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.H32Y NM_018911 NP_061734 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA. 45 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGCCAGCTCCACTACTCCGT 0.642000 43 18 0 0 0.000566183 0 0 TSC2 7249 broad.mit.edu 37 16 2138580 2138580 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:2138580C>T uc002con.3 + 41 5499 c.5393C>T c.(5392-5394)tCc>tTc p.S1798F TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.S1775F|TSC2_uc002coo.3_Missense_Mutation_p.S1731F|TSC2_uc010uvv.2_Missense_Mutation_p.S1695F|TSC2_uc010uvw.2_Missense_Mutation_p.S1683F|TSC2_uc002cop.3_Missense_Mutation_p.S1554F|TSC2_uc002coq.3_Missense_Mutation_p.S573F NM_000548 NP_000539 P49815 TSC2_HUMAN Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA. 1798 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) CGCCTCATCTCCTCGGTGGAG 0.602000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 15 11 0 0 0.000978159 0 0 EIF2C1 26523 broad.mit.edu 37 1 36359751 36359751 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:36359751C>T uc001bzl.3 + 5 976 c.763C>T c.(763-765)Cgc>Tgc p.R255C EIF2C1_uc001bzk.3_Missense_Mutation_p.R180C|EIF2C1_uc009vuy.3_5'Flank NM_012199 NP_036331 Q9UL18 AGO1_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA. 255 PAZ. negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome RNA binding|protein binding biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1) 36 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TCAGCGCGTTCGCTTCACCAA 0.547000 32 29 0 0 0.000878237 0 0 TBC1D15 64786 broad.mit.edu 37 12 72316796 72316796 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:72316796C>T uc001swu.3 + 17 1963 c.1888C>T c.(1888-1890)Ctt>Ttt p.L630F TBC1D15_uc001sww.3_Missense_Mutation_p.L384F|TBC1D15_uc010stt.2_Missense_Mutation_p.L621F|TBC1D15_uc001swv.3_Missense_Mutation_p.L613F NM_022771 NP_073608 Q8TC07 TBC15_HUMAN Homo sapiens TBC1 domain family, member 15 (TBC1D15), transcript variant 1, mRNA. 630 Rab GTPase activator activity|protein binding p.G629G(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GATCCTTGGGCTTCAAGGCAG 0.398000 47 22 0 0 0.00229938 0 0 PRSS1 5644 broad.mit.edu 37 7 142459713 142459713 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:142459713C>T uc003wak.2 + 2 306 c.289C>T c.(289-291)Ccc>Tcc p.P97S TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.P37S NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 97 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CATCCGCCACCCCCAATACGA 0.542000 53 112 0 0 0.000781405 0 0 WDR96 80217 broad.mit.edu 37 10 105947241 105947241 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:105947241G>A uc001kxw.3 - 13 1813 c.1697C>T c.(1696-1698)aCc>aTc p.T566I WDR96_uc009xxq.3_5'Flank|WDR96_uc001kxx.4_Missense_Mutation_p.T567I NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN Homo sapiens WD repeat domain 96 (WDR96), mRNA. 566 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 ATCAGCAAAGGTTGTGGAAAC 0.328000 27 16 0 0 0.00074312 0 0 NBAS 51594 broad.mit.edu 37 2 15534408 15534408 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:15534408G>A uc002rcc.1 - 27 3226 c.3200C>T c.(3199-3201)tCt>tTt p.S1067F NBAS_uc010exl.1_Missense_Mutation_p.S139F|NBAS_uc002rcd.1_Non-coding_Transcript NM_015909 NP_056993 A2RRP1 NBAS_HUMAN Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA. 1067 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TTCTGAGCTAGATTGAGTGTT 0.353000 26 20 0 0 0.00121646 0 0 FBXO33 254170 broad.mit.edu 37 14 39868916 39868916 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:39868916G>A uc001wvk.3 - 3 1810 c.1472C>T c.(1471-1473)aCc>aTc p.T491I NM_203301 NP_976046 Q7Z6M2 FBX33_HUMAN Homo sapiens F-box protein 33 (FBXO33), mRNA. 491 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1) 9 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169) GBM - Glioblastoma multiforme(112;0.0425) GCTTTCTTCGGTGACTTCAAG 0.483000 18 9 0 0 0.000442599 0 0 UBE2NL 389898 broad.mit.edu 37 X 142967326 142967326 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:142967326G>A uc004fca.3 + 0 154 c.124G>A c.(124-126)Gaa>Aaa p.E42K NM_001012989 NP_001013007 Q5JXB2 UE2NL_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA. 42 acid-amino acid ligase activity p.E42K(2) breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(192;6.56e-05) CATTGCTGGGGAATCAAAGGA 0.473000 37 43 0 0 0.00285205 0 0 RPN2 6185 broad.mit.edu 37 20 35827600 35827600 + Missense_Mutation SNP C T T rs147803642 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:35827600C>T uc002xgp.3 + 3 755 c.451C>T c.(451-453)Cgt>Tgt p.R151C RPN2_uc010gfw.2_Intron|RPN2_uc002xgq.3_Missense_Mutation_p.R119C|RPN2_uc021wdb.1_5'UTR NM_002951 NP_002942 P04844 RPN2_HUMAN Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA. 151 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1) 24 Myeloproliferative disorder(115;0.00878) CCTTACTGCTCGTCTCAGCAA 0.522000 40 12 0 0 0.00185496 0 0 FAM135B 51059 broad.mit.edu 37 8 139164862 139164862 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:139164862C>T uc003yuy.3 - 12 2027 c.1856G>A c.(1855-1857)gGa>gAa p.G619E FAM135B_uc003yux.3_Missense_Mutation_p.G520E|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.G181E|FAM135B_uc003yvb.3_Missense_Mutation_p.G181E NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 619 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TATTCCCTTTCCTAGAGTACT 0.478000 HNSCC(54;0.14) 93 29 0 0 0.001512 0 0 CD300C 10871 broad.mit.edu 37 17 72540920 72540920 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:72540920C>T uc002jky.1 - 1 589 c.228G>A c.(226-228)ggG>ggA p.G76G NM_006678 NP_006669 Q08708 CLM6_HUMAN Homo sapiens CD300c molecule (CD300C), mRNA. 76 Ig-like V-type. cellular defense response integral to plasma membrane transmembrane receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1) 21 CATTCCTTTTCCCTGCTGACC 0.532000 64 23 0 0 0.00229938 0 0 PPARD 5467 broad.mit.edu 37 6 35392531 35392531 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:35392531C>T uc003okn.3 + 7 1458 c.1053C>T c.(1051-1053)ttC>ttT p.F351F PPARD_uc003okl.3_Silent_p.F351F|PPARD_uc011dtb.2_Silent_p.F312F|PPARD_uc011dtc.2_Silent_p.F253F|PPARD_uc003okm.3_Silent_p.F351F NM_001171818 NP_006229 Q03181 PPARD_HUMAN Homo sapiens peroxisome proliferator-activated receptor delta (PPARD), transcript variant 3, mRNA. 351 Ligand-binding. apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) TGGCCCTATTCATTGCGGCCA 0.567000 12 17 0 0 0.00152264 0 0 FLRT1 23769 broad.mit.edu 37 11 63885213 63885213 + Missense_Mutation SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:63885213T>C uc021qks.1 + 0 1474 c.1474T>C c.(1474-1476)Tac>Cac p.Y492H MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.Y492H NM_013280 NP_037412 Q9NZU1 FLRT1_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA. 464 Fibronectin type-III. 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 CAAGACAGAGTACCTGCTGAC 0.622000 11 11 0 0 0.000978159 0 0 TSPAN19 144448 broad.mit.edu 37 12 85421700 85421700 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:85421700C>T uc009zsj.3 - 3 342 c.241G>A c.(241-243)Gaa>Aaa p.E81K NM_001100917 NP_001094387 P0C672 TSN19_HUMAN Homo sapiens tetraspanin 19 (TSPAN19), mRNA. 81 integral to membrane ovary(1) 1 CATCTGATTTCGTTGTGAATT 0.294000 4 4 0 0 0.00024832 0 0 DNAH1 25981 broad.mit.edu 37 3 52403981 52403981 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:52403981C>T uc011bef.2 + 37 6345 c.6084C>T c.(6082-6084)ccC>ccT p.P2028P NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 2028 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGCTGCCTCCCTTGCTGAAGC 0.607000 103 35 0 0 0.00111076 0 0 SV2A 9900 broad.mit.edu 37 1 149883442 149883442 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:149883442G>A uc001etg.3 - 2 1204 c.713C>T c.(712-714)tCg>tTg p.S238L SV2A_uc001eth.2_Missense_Mutation_p.S238L NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA. 238 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) GACTGAGAGCGAGATGAGCAG 0.582000 55 9 0 0 0.000274275 0 0 FRMD7 90167 broad.mit.edu 37 X 131212235 131212235 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:131212235C>T uc004ewn.3 - 11 1988 c.1810G>A c.(1810-1812)Ggg>Agg p.G604R FRMD7_uc022cdy.1_Missense_Mutation_p.G484R|FRMD7_uc011muy.2_Missense_Mutation_p.G589R NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN Homo sapiens FERM domain containing 7 (FRMD7), mRNA. 604 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) AATTCTGACCCAAAAGGAAAA 0.423000 23 18 0 0 0.000958276 0 0 LONRF2 164832 broad.mit.edu 37 2 100915380 100915380 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:100915380C>T uc002tal.4 - 6 2034 c.1394G>A c.(1393-1395)gGa>gAa p.G465E LONRF2_uc010yvs.2_Non-coding_Transcript NM_198461 NP_940863 Q1L5Z9 LONF2_HUMAN Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA. 465 proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 AAATGTGTGTCCACAGGGCGT 0.443000 156 119 0 0 0.000781405 0 0 SLC4A4 8671 broad.mit.edu 37 4 72316957 72316957 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:72316957C>T uc010iic.3 + 10 1378 c.1261C>T c.(1261-1263)Cat>Tat p.H421Y SLC4A4_uc003hfy.3_Missense_Mutation_p.H421Y|SLC4A4_uc010iib.3_Missense_Mutation_p.H421Y|SLC4A4_uc003hfz.3_Missense_Mutation_p.H421Y|SLC4A4_uc003hgc.4_Missense_Mutation_p.H377Y|SLC4A4_uc010iid.3_5'UTR|SLC4A4_uc003hga.2_Missense_Mutation_p.H299Y|SLC4A4_uc003hgb.3_Missense_Mutation_p.H377Y NM_001134742 NP_001128214 Q9Y6R1 S4A4_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA. 421 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) GGATACGCCCCATGATGGAGG 0.438000 50 16 0 0 0.00074312 0 0 HCLS1 3059 broad.mit.edu 37 3 121351017 121351017 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:121351017G>A uc003eeh.4 - 12 1380 c.1255C>T c.(1255-1257)Ccg>Tcg p.P419S HCLS1_uc011bjj.2_Missense_Mutation_p.P382S NM_005335 NP_005326 P14317 HCLS1_HUMAN Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA. 419 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) gccccagccGGGCAGCCTGAT 0.527000 28 12 0 0 0.00136819 0 0 VOPP1 81552 broad.mit.edu 37 7 55560099 55560099 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:55560099C>T uc003tqs.3 - 3 387 c.204G>A c.(202-204)atG>atA p.M68I VOPP1_uc003tqq.3_Missense_Mutation_p.M59I|VOPP1_uc010kzh.3_Missense_Mutation_p.M65I|VOPP1_uc010kzi.3_Missense_Mutation_p.M51I|VOPP1_uc011kcr.2_5'UTR NM_030796 NP_110423 Q96AW1 VOPP1_HUMAN Homo sapiens vesicular, overexpressed in cancer, prosurvival protein 1 (VOPP1), mRNA. 68 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic vesicle membrane|endosome|integral to organelle membrane signal transducer activity endometrium(1)|lung(4) 5 GCACGCCCATCATCAGAAGGA 0.617000 19 4 0 0 0.000602214 0 0 KCNF1 3754 broad.mit.edu 37 2 11053071 11053071 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:11053071G>A uc002rax.3 + 0 1009 c.519G>A c.(517-519)gaG>gaA p.E173E NM_002236 NP_002227 Q9H3M0 KCNF1_HUMAN Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA. 173 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) AGTTCCTGGAGAAGCCCGAGT 0.692000 37 7 0 0 0.000157383 0 0 CCR1 1230 broad.mit.edu 37 3 46245447 46245447 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:46245447C>T uc003cph.1 - 1 429 c.358G>A c.(358-360)Gag>Aag p.E120K CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Missense_Mutation_p.E120K NM_001295 NP_001286 P32246 CCR1_HUMAN Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA. 120 G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) AAAAAGATCTCGCTGTACAAG 0.502000 77 24 0 0 0.000720815 0 0 TSNARE1 203062 broad.mit.edu 37 8 143381912 143381912 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:143381912G>A uc003ywj.3 - 8 1267 c.1228C>T c.(1228-1230)Ccg>Tcg p.P410S TSNARE1_uc011lju.2_Missense_Mutation_p.P408S|TSNARE1_uc003ywk.3_Missense_Mutation_p.P409S|TSNARE1_uc003ywl.4_Missense_Mutation_p.P190S NM_145003 NP_659440 Q96NA8 TSNA1_HUMAN Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA. 409 vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GTGATGTCCGGGAGCAGCGCC 0.632000 35 15 0 0 0.000566183 0 0 KRT16P3 644945 broad.mit.edu 37 17 20407403 20407403 + RNA SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:20407403C>T uc002gxb.3 - 0 c.409G>A Homo sapiens keratin 16 pseudogene 3 (KRT16P3), non-coding RNA. CACCAGAAGCCCATCAccacc 0.627000 11 15 0 0 0.000958276 0 0 GPR128 84873 broad.mit.edu 37 3 100368606 100368606 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:100368606C>T uc003duc.3 + 10 1602 c.1334C>T c.(1333-1335)tCt>tTt p.S445F GPR128_uc011bhc.2_Missense_Mutation_p.S146F NM_032787 NP_116176 Q96K78 GP128_HUMAN Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA. 445 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 TGTGCACTGTCTGTTACTGGT 0.348000 24 35 0 0 0.00195071 0 0 GABRA3 2556 broad.mit.edu 37 X 151424268 151424268 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:151424268G>A uc010ntk.1 - 4 773 c.533C>T c.(532-534)aCc>aTc p.T178I NM_000808 NP_000799 P34903 GBRA3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA. 178 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATAGAGGAGGGTTCCGTTGTC 0.478000 36 19 0 0 0.00152264 0 0 RGR 5995 broad.mit.edu 37 10 86014182 86014182 + Missense_Mutation SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:86014182A>C uc001kdd.1 + 4 663 c.625A>C c.(625-627)Aag>Cag p.K209Q RGR_uc001kdc.1_Missense_Mutation_p.K205Q|RGR_uc001kde.1_Missense_Mutation_p.K205Q NM_002921 NP_002912 P47804 RGR_HUMAN Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA. 205 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 17 GAAACTGGGGAAGAGTGGCCA 0.522000 21 28 0 0 0.00127121 0 0 TFAP2D 83741 broad.mit.edu 37 6 50696616 50696616 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:50696616G>A uc003paf.3 + 3 1158 c.646G>A c.(646-648)Ggc>Agc p.G216S TFAP2D_uc011dwt.2_Non-coding_Transcript NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA. 216 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) CTCTGTCCCTGGCCGTTTGTC 0.468000 13 23 0 0 0.000586117 0 0 KIAA2026 158358 broad.mit.edu 37 9 5924691 5924691 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:5924691G>A uc003zjq.4 - 6 2869 c.2653C>T c.(2653-2655)Ctg>Ttg p.L885L KIAA2026_uc010mht.3_Silent_p.L60L NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN Homo sapiens KIAA2026 (KIAA2026), mRNA. 885 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) AGGATATCCAGAGGTTCTGTT 0.368000 7 34 0 0 0.000814825 0 0 NLRC5 84166 broad.mit.edu 37 16 57059746 57059746 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:57059746G>A uc021tiu.1 + 4 1018 c.891G>A c.(889-891)aaG>aaA p.K297K NLRC5_uc021tit.1_Silent_p.K297K|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Silent_p.K102K|NLRC5_uc021tiw.1_Silent_p.K102K|NLRC5_uc010ccr.1_Non-coding_Transcript NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA. 297 NACHT. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) ACCTGGAGAAGAACGCTGACC 0.552000 67 27 0 0 0.00178596 0 0 ABCA4 24 broad.mit.edu 37 1 94578619 94578619 + Missense_Mutation SNP G A A rs150452677 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:94578619G>A uc001dqh.3 - 1 174 c.70C>T c.(70-72)Cgc>Tgc p.R24C ABCA4_uc010otn.1_Missense_Mutation_p.R24C NM_000350 NP_000341 P78363 ABCA4_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA. 24 R -> H (in STGD1). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances p.R24H(1) 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) ACCACAAAGCGAATCTGGAAA 0.428000 72 77 0 0 0.000781405 0 0 MPHOSPH9 10198 broad.mit.edu 37 12 123687382 123687382 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:123687382G>A uc001uel.3 - 5 1222 c.1114C>T c.(1114-1116)Cag>Tag p.Q372* MPHOSPH9_uc010tal.2_Intron|MPHOSPH9_uc010tam.2_Non-coding_Transcript|MPHOSPH9_uc001uem.3_Intron NM_022782 NP_073619 Q99550 MPP9_HUMAN Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA. 372 M phase of mitotic cell cycle Golgi membrane|centriole NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) TGGAATGTCTGATTTTTCCAA 0.398000 88 49 0 0 0.000781405 0 0 DNMT3A 1788 broad.mit.edu 37 2 25469116 25469116 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:25469116A>G uc002rgc.3 - 10 1599 c.1342T>C c.(1342-1344)Tac>Cac p.Y448H DNMT3A_uc002rgd.3_Missense_Mutation_p.Y448H|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Missense_Mutation_p.Y259H NM_022552 NP_783328 Q9Y6K1 DNM3A_HUMAN Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA. 448 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGTGGTGCGTAGGCAGCTGCC 0.552000 """Mis, F, N, S""" AML 141 85 0 0 0.000781405 0 0 NOS1 4842 broad.mit.edu 37 12 117657984 117657984 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:117657984C>T uc001twn.2 - 27 4879 c.4168G>A c.(4168-4170)Gac>Aac p.D1390N NOS1_uc021ren.1_Missense_Mutation_p.D1020N|NOS1_uc021reo.1_Missense_Mutation_p.D1020N|NOS1_uc001twm.2_Missense_Mutation_p.D1356N NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 1356 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) ATGGTGACGTCCCCACAGACG 0.602000 116 46 0 0 0.000781405 0 0 SALL3 27164 broad.mit.edu 37 18 76755226 76755226 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:76755226C>T uc002lmt.3 + 1 3235 c.3235C>T c.(3235-3237)Ccg>Tcg p.P1079S SALL3_uc010dra.3_Missense_Mutation_p.P614S NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA. 1079 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P1079P(1) 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) CGAGGGTCCCCCGCTGCCCGC 0.711000 30 8 0 0 0.000157383 0 0 BV13S6J2.1 0 broad.mit.edu 37 7 142180782 142180782 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:142180782G>A uc011krz.2 - 1 126 c.77C>T c.(76-78)aCc>aTc p.T26I TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Missense_Mutation_p.T26I|BV13S6J2.1_uc022anl.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; GAATTTTGGGGTCTGAGTGAC 0.527000 121 19 0 0 0.000878237 0 0 SCAND3 114821 broad.mit.edu 37 6 28542620 28542620 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:28542620C>T uc003nlo.3 - 2 2480 c.1862G>A c.(1861-1863)gGa>gAa p.G621E NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 621 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 ATGGATATTTCCATCACATGA 0.423000 20 13 0 0 0.00244969 0 0 FOXP2 93986 broad.mit.edu 37 7 114304412 114304412 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:114304412C>T uc003vhb.3 + 15 2298 c.1924C>T c.(1924-1926)Cac>Tac p.H642Y FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.H667Y|FOXP2_uc003vha.3_Missense_Mutation_p.H550Y|FOXP2_uc011kmv.2_Missense_Mutation_p.H641Y|FOXP2_uc011kmu.2_Missense_Mutation_p.H659Y|FOXP2_uc010ljz.2_Missense_Mutation_p.H457Y NM_014491 NP_055306 O15409 FOXP2_HUMAN Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA. 642 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 GCAGGCCGTCCACGAAGACCT 0.488000 9 33 0 0 0.0024448 0 0 COL4A4 1286 broad.mit.edu 37 2 227915743 227915743 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:227915743A>G uc021vxr.1 - 31 3201 c.3100T>C c.(3100-3102)Tca>Cca p.S1034P COL4A4_uc021vxs.1_Missense_Mutation_p.S1034P NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 1034 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) AGACCAGTTGAGCCTGGAGGG 0.552000 88 20 0 0 0.00152264 0 0 PTH1R 5745 broad.mit.edu 37 3 46944973 46944973 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:46944973C>T uc003cqm.3 + 15 1812 c.1609C>T c.(1609-1611)Cat>Tat p.H537Y PTH1R_uc021wxg.1_Missense_Mutation_p.H537Y NM_000316 NP_001171673 Q03431 PTH1R_HUMAN Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA. 537 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 GCTGCCTGGCCATGCCAAGCC 0.677000 76 25 0 0 0.00047179 0 0 SMPD4 55627 broad.mit.edu 37 2 130912694 130912694 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:130912694G>A uc002tqq.2 - 14 2694 c.1545C>T c.(1543-1545)ccC>ccT p.P515P SMPD4_uc002tqo.2_5'UTR|SMPD4_uc002tqp.2_Silent_p.P254P|SMPD4_uc010yzy.2_Silent_p.P264P|SMPD4_uc010yzz.2_Silent_p.P179P|SMPD4_uc002tqs.2_Silent_p.P383P|SMPD4_uc002tqr.2_Silent_p.P486P|SMPD4_uc010zaa.2_Silent_p.P373P|SMPD4_uc010zab.2_Silent_p.P413P|SMPD4_uc002tqt.2_Silent_p.P364P|SMPD4_uc010zac.2_Silent_p.P256P|SMPD4_uc010zad.2_Silent_p.P151P NM_017951 NP_060421 Q9NXE4 NSMA3_HUMAN Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA. 476 sphingomyelin catabolic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity p.Q514L(1) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) CAGCCAGGTTGGGCTGGGCAA 0.612000 52 8 0 0 0.000442599 0 0 abParts 0 broad.mit.edu 37 14 106691916 106691916 + RNA SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:106691916G>A uc021ser.1 - 1156 c.25077C>T Parts of antibodies, mostly variable regions. AGAGTCTCAGGGACCCCCCAG 0.587000 58 21 0 0 0.00229938 0 0 ST8SIA4 7903 broad.mit.edu 37 5 100147679 100147679 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:100147679C>T uc003knk.3 - 4 1280 c.952G>A c.(952-954)Gat>Aat p.D318N NM_005668 NP_005659 Q92187 SIA8D_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA. 318 N-glycan processing|axon guidance integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 25 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) TTTAAGTCATCATAATAATGA 0.353000 11 22 0 0 0.00152264 0 0 PAXIP1 22976 broad.mit.edu 37 7 154738110 154738110 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:154738110C>T uc022aqg.1 - 19 3202 c.3159G>A c.(3157-3159)ctG>ctA p.L1053L LOC100132707_uc011kvr.2_Non-coding_Transcript|LOC100132707_uc003wlo.3_Non-coding_Transcript|PAXIP1_uc022aqf.1_Silent_p.L1053L|PAXIP1_uc022aqh.1_Silent_p.L1019L|PAXIP1_uc022aqi.1_Silent_p.L1017L NM_007349 NP_031375 Q6ZW49 PAXI1_HUMAN Homo sapiens PAX interacting (with transcription-activation domain) protein 1 (PAXIP1), mRNA. 1053 BRCT 6.|Interaction with TP53BP1. DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent histone methyltransferase complex|nuclear matrix NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 33 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) GCACTCCAGTCAGAACGAACT 0.428000 159 32 0 0 0.00148497 0 0 C12orf52 84934 broad.mit.edu 37 12 113629232 113629232 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:113629232C>T uc001tur.1 + 3 888 c.420C>T c.(418-420)ctC>ctT p.L140L NM_032848 NP_116237 Q96K30 RITA_HUMAN Homo sapiens chromosome 12 open reading frame 52 (C12orf52), mRNA. 140 Interaction with RBPJ/RBPSUH. Notch signaling pathway|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|nuclear export centrosome|nucleus tubulin binding large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1) 5 TCCGTGCTCTCTTGTGGACGC 0.662000 12 5 0 0 0.000602214 0 0 MAP1A 4130 broad.mit.edu 37 15 43815729 43815729 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:43815729G>A uc001zrt.3 + 3 2525 c.2058G>A c.(2056-2058)caG>caA p.Q686Q NM_002373 NP_002364 P78559 MAP1A_HUMAN Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA. 686 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) AACATATGCAGGAACCCTTGA 0.507000 18 11 0 0 0.000978159 0 0 TTN 7273 broad.mit.edu 37 2 179417082 179417082 + Missense_Mutation SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179417082T>A uc021vsy.1 - 283 83066 c.82841A>T c.(82840-82842)aAa>aTa p.K27614I MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K21309I|TTN_uc021vta.1_Missense_Mutation_p.K21242I|TTN_uc021vtb.1_Missense_Mutation_p.K21117I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 28541 Fibronectin type-III 101. 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) GTTTTCAGTTTTACTGAAGCG 0.378000 33 6 0 0 0.00116845 0 0 PRDM16 63976 broad.mit.edu 37 1 3328303 3328303 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:3328303C>T uc001akf.3 + 8 1624 c.1542C>T c.(1540-1542)ttC>ttT p.F514F PRDM16_uc001ake.3_Silent_p.F514F|PRDM16_uc009vlh.3_Silent_p.F215F|PRDM16_uc001akc.3_Silent_p.F514F NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA. 514 Pro-rich. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CCCCCGGCTTCCCGGGCATCT 0.682000 T EVI1 """MDS, AML""" 125 28 0 0 0.00058488 0 0 SCUBE1 80274 broad.mit.edu 37 22 43619186 43619186 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:43619186G>A uc003bdt.2 - 10 1371 c.1244C>T c.(1243-1245)cCc>cTc p.P415L NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA. 415 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) CTGGGCCCGGGGGGAGGTCTT 0.647000 223 32 0 0 0.000692331 0 0 CACNG2 10369 broad.mit.edu 37 22 36960716 36960716 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:36960716G>A uc003aps.2 - 3 723 c.654C>T c.(652-654)ctC>ctT p.L218L NM_006078 NP_006069 Q9Y698 CCG2_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA. 218 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 CAGAGGCCTGGAGGTAGTCCG 0.677000 421 44 0 0 0.000781405 0 0 AGAP1 116987 broad.mit.edu 37 2 236957795 236957795 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:236957795C>T uc002vvs.3 + 15 2582 c.1984C>T c.(1984-1986)Cga>Tga p.R662* AGAP1_uc002vvt.3_Nonsense_Mutation_p.R609* NM_001037131 NP_001032208 Q9UPQ3 AGAP1_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA. 662 Arf-GAP. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TTCCCGAGTCCGATCTCTGGA 0.577000 76 26 0 0 0.00178596 0 0 C6orf10 10665 broad.mit.edu 37 6 32260952 32260952 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:32260952C>T uc021yvt.1 - 22 1671 c.1498G>A c.(1498-1500)Gat>Aat p.D500N C6orf10_uc011dpx.2_Intron|C6orf10_uc021yvs.1_Missense_Mutation_p.D417N|C6orf10_uc011dpz.2_Missense_Mutation_p.D498N|C6orf10_uc021yvu.1_Missense_Mutation_p.D498N|C6orf10_uc021yvv.1_Missense_Mutation_p.D484N NM_006781 NP_006772 Q5SRN2 CF010_HUMAN Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA. 500 Lys-rich. integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 ttttctttatcattatttcct 0.358000 23 25 0 0 0.00278032 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6213229 6213229 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:6213229C>T uc002kmz.4 - 11 1060 c.900G>A c.(898-900)atG>atA p.M300I L3MBTL4_uc002kmy.4_Missense_Mutation_p.M300I|L3MBTL4_uc010dkt.3_Missense_Mutation_p.M300I NM_173464 NP_775735 Q8NA19 LMBL4_HUMAN Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA. 300 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) CTTCAAGTTTCATATTTGGCA 0.318000 47 26 0 0 0.00209593 0 0 ADCY9 115 broad.mit.edu 37 16 4164539 4164539 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:4164539G>A uc002cvx.3 - 1 1444 c.905C>T c.(904-906)tCc>tTc p.S302F NM_001116 NP_001107 O60503 ADCY9_HUMAN Homo sapiens adenylate cyclase 9 (ADCY9), mRNA. 302 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 plasma membrane ATP binding|adenylate cyclase activity|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CCTCACCTGGGACATGACGAA 0.617000 19 47 0 0 0.000781405 0 0 PCSK5 5125 broad.mit.edu 37 9 78638698 78638698 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:78638698C>T uc004akc.2 + 3 994 c.456C>T c.(454-456)atC>atT p.I152I PCSK5_uc004ajy.2_Silent_p.I152I|PCSK5_uc004ajz.3_Silent_p.I152I|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. 152 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 ACATGAATATCGAAGGAGCCT 0.448000 43 25 0 0 0.00047179 0 0 CCDC96 257236 broad.mit.edu 37 4 7043099 7043099 + Missense_Mutation SNP G A A rs34275081 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:7043099G>A uc003gjv.2 - 0 1630 c.1567C>T c.(1567-1569)Cgg>Tgg p.R523W LOC100129931_uc021xld.1_Intron|TADA2B_uc003gjw.4_5'Flank|TADA2B_uc010idi.3_5'Flank NM_153376 NP_699207 Q2M329 CCD96_HUMAN Homo sapiens coiled-coil domain containing 96 (CCDC96), mRNA. 523 endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1) 11 TCCAGGCGCCGGTGAAGCAGT 0.557000 52 22 0 0 0.00229938 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6882234 6882234 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:6882234C>T uc002knc.3 + 10 4444 c.1233C>T c.(1231-1233)ttC>ttT p.F411F ARHGAP28_uc002kne.3_Silent_p.F304F|ARHGAP28_uc010wzi.2_Silent_p.F286F|ARHGAP28_uc002knf.3_Silent_p.F295F NM_001010000 NP_001010000 B4DXL2 B4DXL2_HUMAN Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA. 286 signal transduction intracellular breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) AAGCGTTTTTCAGAGAACTAC 0.393000 68 18 0 0 0.00152264 0 0 IZUMO1 284359 broad.mit.edu 37 19 49244246 49244246 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:49244246G>A uc002pkj.3 - 9 1520 c.972C>T c.(970-972)tcC>tcT p.S324S RASIP1_uc002pki.3_5'Flank|IZUMO1_uc010eme.3_Non-coding_Transcript|IZUMO1_uc010emf.3_Non-coding_Transcript NM_182575 NP_872381 Q8IYV9 IZUM1_HUMAN Homo sapiens izumo sperm-egg fusion 1 (IZUMO1), mRNA. 324 fusion of sperm to egg plasma membrane integral to membrane endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) CAAACAGTGAGGATTTGATGA 0.493000 73 14 0 0 0.000422831 0 0 DYSF 8291 broad.mit.edu 37 2 71894640 71894640 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:71894640G>A uc010fen.3 + 47 5593 c.5452G>A c.(5452-5454)Gag>Aag p.E1818K DYSF_uc010fei.3_Missense_Mutation_p.E1796K|DYSF_uc010feh.3_Missense_Mutation_p.E1786K|DYSF_uc002sig.4_Missense_Mutation_p.E1765K|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.E1810K|DYSF_uc010fee.3_Missense_Mutation_p.E1800K|DYSF_uc010fef.3_Missense_Mutation_p.E1817K|DYSF_uc002sie.3_Missense_Mutation_p.E1779K|DYSF_uc010feo.3_Missense_Mutation_p.E1811K|DYSF_uc010fej.3_Missense_Mutation_p.E1787K|DYSF_uc010fel.3_Missense_Mutation_p.E1766K|DYSF_uc010fem.3_Missense_Mutation_p.E1801K|DYSF_uc002sif.3_Missense_Mutation_p.E1780K|DYSF_uc010fek.3_Missense_Mutation_p.E1797K|DYSF_uc010yqy.2_Missense_Mutation_p.E660K|DYSF_uc010yqz.2_Missense_Mutation_p.E540K NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 1779 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GCCAGACATCGAGCAGGTAGG 0.632000 30 9 0 0 0.000274275 0 0 KRT18P55 284085 broad.mit.edu 37 17 26604046 26604046 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:26604046C>T uc002has.3 - 2 916 c.429G>A c.(427-429)tgG>tgA p.W143* Homo sapiens keratin 18 pseudogene 55 (KRT18P55), non-coding RNA. TCTCCAGCTTCCAGTTCTTGG 0.542000 44 69 0 0 0.000781405 0 0 KPRP 448834 broad.mit.edu 37 1 152732820 152732820 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:152732820C>T uc001fal.1 + 1 814 c.756C>T c.(754-756)acC>acT p.T252T KPRP_uc021ozf.1_Silent_p.T252T NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA. 252 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) CTCGGAGCACCAGCAGATGCC 0.607000 61 23 0 0 0.00047179 0 0 NGEF 25791 broad.mit.edu 37 2 233835021 233835021 + Nonsense_Mutation SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:233835021T>A uc002vts.2 - 2 534 c.286A>T c.(286-288)Aaa>Taa p.K96* NM_019850 NP_062824 Q8N5V2 NGEF_HUMAN Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA. 96 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) TTTACAGATTTTCCATTGTCC 0.463000 66 28 0 0 0.00178596 0 0 DNAH7 56171 broad.mit.edu 37 2 196788418 196788418 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:196788418C>T uc002utj.4 - 22 3827 c.3726G>A c.(3724-3726)ctG>ctA p.L1242L NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1242 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CATGGACATCCAGTACCACAA 0.408000 55 11 0 0 0.00136819 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140256462 140256462 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140256462C>T uc003lic.2 + 0 1532 c.1405C>T c.(1405-1407)Ccg>Tcg p.P469S PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.P469S NM_018903 NP_061726 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA. 483 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGAACAACCCGCCGGGCTG 0.662000 57 33 0 0 0.00283554 0 0 PLCB4 5332 broad.mit.edu 37 20 9438082 9438082 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:9438082G>A uc021wam.1 + 29 2997 c.2982G>A c.(2980-2982)atG>atA p.M994I PLCB4_uc010gbw.1_Missense_Mutation_p.M994I|PLCB4_uc010gbx.3_Missense_Mutation_p.M1006I|PLCB4_uc021wal.1_Missense_Mutation_p.M994I|PLCB4_uc002wnh.3_Missense_Mutation_p.M841I NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 994 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 GTCTCGAAATGAAAAAAGAAA 0.368000 20 22 0 0 0.000586117 0 0 NUP210L 91181 broad.mit.edu 37 1 154101776 154101776 + Missense_Mutation SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:154101776T>C uc001fdw.3 - 7 1127 c.1055A>G c.(1054-1056)tAt>tGt p.Y352C NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.Y352C NM_207308 NP_997191 Q5VU65 P210L_HUMAN Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA. 352 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) CTCTACAACATATATGGTGCA 0.363000 173 30 0 0 0.00058488 0 0 OR6B1 135946 broad.mit.edu 37 7 143701136 143701136 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:143701136G>A uc003wdt.1 + 0 47 c.47G>A c.(46-48)gGa>gAa p.G16E NM_001005281 NP_001005281 O95007 OR6B1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA. 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) ATTCTGGTGGGATTCCCTGGG 0.478000 37 15 0 0 0.000308642 0 0 WDR96 80217 broad.mit.edu 37 10 105938810 105938810 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:105938810C>T uc001kxw.3 - 18 2553 c.2437G>A c.(2437-2439)Gga>Aga p.G813R WDR96_uc009xxq.3_Missense_Mutation_p.G121R|WDR96_uc001kxx.4_Missense_Mutation_p.G814R NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN Homo sapiens WD repeat domain 96 (WDR96), mRNA. 813 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GATTTGATTCCTTGTTTTATC 0.303000 17 14 0 0 0.000308642 0 0 ARAP2 116984 broad.mit.edu 37 4 36069745 36069745 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:36069745G>A uc003gsq.2 - 32 5237 c.4899C>T c.(4897-4899)ttC>ttT p.F1633F ARAP2_uc003gso.3_Intron NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA. 1633 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 CCAGGCAGTTGAAACTCCGAT 0.517000 51 24 0 0 0.00047179 0 0 abParts 0 broad.mit.edu 37 2 90260245 90260245 + RNA SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:90260245C>T uc010yts.2 + 40 c.5513C>T Parts of antibodies, mostly variable regions. ATTATAGTTTCCCTCCCACAG 0.498000 73 19 0 0 0.00121646 0 0 RBM27 54439 broad.mit.edu 37 5 145631329 145631330 + Missense_Mutation DNP GG TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:145631329_145631330GG>TT uc003lnz.4 + 8 1501_1502 c.1335_1336GG>TT c.(1333-1338)ttgggg>ttTTgg p.445_446LG>FW RBM27_uc003lny.2_Intron NM_018989 NP_061862 Q9P2N5 RBM27_HUMAN Homo sapiens RNA binding motif protein 27 (RBM27), mRNA. 445 mRNA processing cytoplasm|nuclear speck RNA binding|nucleotide binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GACTTCAGTTGGGGACACCGCC 0.545000 147 6 0 0 6.4e-05 0 0 PBX1 5087 broad.mit.edu 37 1 164761828 164761828 + Silent SNP G A A rs147201088 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:164761828G>A uc001gct.3 + 2 826 c.363G>A c.(361-363)gaG>gaA p.E121E PBX1_uc010pku.2_Silent_p.E121E|PBX1_uc001gcs.3_Silent_p.E121E|PBX1_uc010pkv.2_Silent_p.E38E|PBX1_uc010pkw.1_Silent_p.E11E NM_002585 NP_002576 P40424 PBX1_HUMAN Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA. 121 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 CGGGGCCTGAGAAGGGCGGAG 0.627000 T """TCF3, EWSR1""" """pre B-ALL, myoepithelioma""" 32 54 0 0 0.000781405 0 0 SALL1 6299 broad.mit.edu 37 16 51174598 51174598 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:51174598G>A uc021tif.1 - 1 1566 c.1244C>T c.(1243-1245)cCt>cTt p.P415L SALL1_uc021tid.1_Missense_Mutation_p.P415L|SALL1_uc021tie.1_Missense_Mutation_p.P512L|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 512 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CTCAGGCACAGGATAGGGGTT 0.512000 60 30 0 0 0.000692331 0 0 PSD 5662 broad.mit.edu 37 10 104176661 104176661 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:104176661G>A uc001kvg.1 - 1 662 c.135C>T c.(133-135)tcC>tcT p.S45S PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Silent_p.S45S|PSD_uc001kvi.1_Silent_p.S45S|FBXL15_uc001kvj.1_5'Flank|FBXL15_uc001kvk.2_5'Flank NM_002779 NP_002770 A5PKW4 PSD1_HUMAN Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA. 45 Pro-rich. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GCCGTAGCAAGGAGCCTGTGC 0.692000 9 11 0 0 0.000958276 0 0 ARPP21 10777 broad.mit.edu 37 7 38305208 38305208 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:38305208G>A uc003tge.1 - 4 876 c.499C>T c.(499-501)Cag>Tag p.Q167* ARPP21_uc022aby.1_5'UTR|ARPP21_uc003tfv.3_Intron|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_5'UTR|ARPP21_uc003tgc.1_5'UTR|ARPP21_uc003tgd.1_5'UTR|ARPP21_uc010kxi.1_Non-coding_Transcript|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript Q9UBL0 ARP21_HUMAN Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 0 R3H. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 CCAGCCTTCTGGAGCTTTGTT 0.383000 319 91 0 0 0.000781405 0 0 TPCN1 53373 broad.mit.edu 37 12 113729446 113729446 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:113729446C>T uc001tux.3 + 24 2382 c.2208C>T c.(2206-2208)agC>agT p.S736S TPCN1_uc001tuw.3_Silent_p.S664S|TPCN1_uc010syu.2_5'Flank NM_001143819 NP_060371 Q9ULQ1 TPC1_HUMAN Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA. 664 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 CCCACTGGAGCCGCCTCTACT 0.597000 8 3 0 0 0.00024832 0 0 CAPN13 92291 broad.mit.edu 37 2 30964829 30964829 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:30964829C>T uc021vfn.1 - 14 1512 c.1480_splice c.e14-1 p.G494_splice CAPN13_uc002rnm.3_Splice_Site|CAPN13_uc021vfm.1_Splice_Site_p.G490_splice|CAPN13_uc002rno.3_Splice_Site_p.G48_splice NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN Homo sapiens calpain 13 (CAPN13), mRNA. 494 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) TGAAGGGCTTCCCTGGATCAA 0.502000 40 14 0 0 0.00244969 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140778104 140778104 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140778104C>T uc003lkf.2 + 0 410 c.410C>T c.(409-411)tCc>tTc p.S137F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.S137F NM_018925 NP_061748 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA. 137 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGCAAAATTCCTTTGAGCTG 0.413000 30 10 0 0 0.000308642 0 0 LIPH 200879 broad.mit.edu 37 3 185252690 185252691 + Missense_Mutation DNP CC AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:185252690_185252691CC>AA uc003fpm.3 - 1 389_390 c.279_280GG>TT c.(277-282)aagggt>aaTTgt p.93_94KG>NC LIPH_uc010hyh.3_Missense_Mutation_p.93_94KG>NC NM_139248 NP_640341 Q8WWY8 LIPH_HUMAN Homo sapiens lipase, member H (LIPH), mRNA. 93 lipid catabolic process extracellular space|plasma membrane heparin binding|phospholipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2) 20 all_cancers(143;8.87e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) GAGAGCAAACCCTTTACTAAGT 0.431000 663 13 0 0 6.4e-05 0 0 SCGN 10590 broad.mit.edu 37 6 25689431 25689431 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:25689431C>T uc003nfb.3 + 7 762 c.559C>T c.(559-561)Caa>Taa p.Q187* SCGN_uc010jpz.3_Nonsense_Mutation_p.Q78* NM_006998 NP_008929 O76038 SEGN_HUMAN Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA. 187 extracellular region|transport vesicle membrane calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 CTTCCTTCTCCAATTTAAAAT 0.368000 68 17 0 0 0.000958276 0 0 NAV1 89796 broad.mit.edu 37 1 201786325 201786325 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:201786325C>T uc021phi.1 + 28 5797 c.5450C>T c.(5449-5451)cCc>cTc p.P1817L NAV1_uc001gwu.3_Missense_Mutation_p.P1814L|NAV1_uc001gwx.3_Missense_Mutation_p.P1423L NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA. 1817 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 CTGCCCCCACCCACCGTGGGC 0.582000 57 11 0 0 0.000673444 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140248820 140248820 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140248820C>T uc003lia.2 + 0 990 c.132C>T c.(130-132)ttC>ttT p.F44F PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.F44F NM_018902 NP_061725 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA. 57 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.L44Q(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGGCACCTTCGTGGGCCGCA 0.652000 70 40 0 0 0.00195071 0 0 HP1BP3 50809 broad.mit.edu 37 1 21103228 21103228 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:21103228G>A uc001bdy.1 - 2 312 c.212C>T c.(211-213)tCa>tTa p.S71L HP1BP3_uc001bdv.1_Missense_Mutation_p.S33L|HP1BP3_uc001bdw.1_Missense_Mutation_p.S71L|HP1BP3_uc010odh.1_Missense_Mutation_p.S33L|HP1BP3_uc001bea.2_Missense_Mutation_p.S70L|HP1BP3_uc001beb.3_Missense_Mutation_p.S71L NM_016287 NP_057371 Q5SSJ5 HP1B3_HUMAN Homo sapiens heterochromatin protein 1, binding protein 3 (HP1BP3), mRNA. 71 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1) 16 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) AGATTCCTCTGAACTTATGTC 0.413000 122 31 0 0 0.00283554 0 0 GRWD1 83743 broad.mit.edu 37 19 48955988 48955988 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:48955988C>T uc002pjd.2 + 6 1280 c.1047C>T c.(1045-1047)ttC>ttT p.F349F KCNJ14_uc002pje.1_5'Flank NM_031485 NP_113673 Q9BQ67 GRWD1_HUMAN Homo sapiens glutamate-rich WD repeat containing 1 (GRWD1), mRNA. 349 nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1) 19 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222) TGGCCACCTTCAAGCAGCACG 0.647000 37 32 0 0 0.00128727 0 0 RIF1 55183 broad.mit.edu 37 2 152300066 152300067 + Missense_Mutation DNP TT CA CA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:152300066_152300067TT>CA uc002txm.3 + 17 1990_1991 c.1829_1830TT>CA c.(1828-1830)ctt>cCA p.L610P RIF1_uc010fnv.2_Missense_Mutation_p.L574P|RIF1_uc002txn.3_Missense_Mutation_p.L610P|RIF1_uc002txl.3_Missense_Mutation_p.L610P|RIF1_uc002txo.3_Missense_Mutation_p.L610P NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA. 610 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) TTGGAATCACTTGTAGGCTGTG 0.307000 110 75 0 0 6.4e-05 0 0 C1orf65 164127 broad.mit.edu 37 1 223568257 223568257 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:223568257G>A uc001hoa.2 + 0 1543 c.1440G>A c.(1438-1440)aaG>aaA p.K480K NM_152610 NP_689823 Q8N715 CA065_HUMAN Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA. 480 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) AGGCCCAGAAGGAGGAAGAGC 0.592000 34 29 0 0 0.00178596 0 0 ZDBF2 57683 broad.mit.edu 37 2 207175629 207175629 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:207175629C>T uc002vbp.2 + 4 6627 c.6377C>T c.(6376-6378)tCt>tTt p.S2126F NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA. 2126 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 AGTGACTCTTCTCTGTTTCTG 0.413000 101 26 0 0 0.00106085 0 0 PADI4 23569 broad.mit.edu 37 1 17685896 17685896 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:17685896C>T uc001baj.2 + 14 1779 c.1751C>T c.(1750-1752)cCc>cTc p.P584L NM_012387 NP_036519 Q9UM07 PADI4_HUMAN Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA. 584 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) GCTTTTTTCCCCAACATGGTG 0.607000 91 23 0 0 0.00229938 0 0 ACBD3 64746 broad.mit.edu 37 1 226349293 226349293 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:226349293G>A uc001hpy.3 - 3 714 c.667C>T c.(667-669)Cga>Tga p.R223* NM_022735 NP_073572 Q9H3P7 GCP60_HUMAN Homo sapiens acyl-CoA binding domain containing 3 (ACBD3), mRNA. 223 Arg-rich.|Glu-rich. steroid biosynthetic process|transport Golgi membrane|integral to membrane|mitochondrion fatty-acyl-CoA binding|protein binding breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2) 20 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.121) tcctcccgtcgaagcctttcc 0.453000 66 11 0 0 0.000978159 0 0 INTS5 80789 broad.mit.edu 37 11 62414849 62414849 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:62414849G>A uc001nud.3 - 1 2756 c.2703C>T c.(2701-2703)ccC>ccT p.P901P GANAB_uc001nua.3_5'Flank|GANAB_uc001nub.3_5'Flank|GANAB_uc001nuc.3_5'Flank|GANAB_uc010rma.2_5'Flank|GANAB_uc010rmb.2_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN Homo sapiens integrator complex subunit 5 (INTS5), mRNA. 901 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 CCAGGTGCCAGGGGGAGTGGG 0.632000 39 37 0 0 0.000814825 0 0 C3P1 388503 broad.mit.edu 37 19 10157457 10157457 + RNA SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:10157457G>A uc010dwx.2 + 8 c.1291G>A Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA. endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 ATGCCTGTGCGGACCTTGTTC 0.527000 69 13 0 0 0.00185496 0 0 RNASEH2A 10535 broad.mit.edu 37 19 12924217 12924218 + Missense_Mutation DNP CC TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:12924217_12924218CC>TT uc002mvg.1 + 7 897_898 c.837_838CC>TT c.(835-840)gcccgt>gcTTgt p.R280C NM_006397 NP_006388 O75792 RNH2A_HUMAN Homo sapiens ribonuclease H2, subunit A (RNASEH2A), mRNA. 280 DNA replication|RNA catabolic process nucleus|ribonuclease H2 complex RNA binding|metal ion binding|ribonuclease H activity breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 14 GGTCCCAAGCCCGTCCCCGTTC 0.579000 42 19 0 0 6.4e-05 0 0 IL1F10 84639 broad.mit.edu 37 2 113831960 113831960 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:113831960G>A uc002tiu.3 + 2 162 c.87G>A c.(85-87)gtG>gtA p.V29V IL1F10_uc002tiv.3_Silent_p.V29V|IL1F10_uc002tiw.3_5'Flank NM_173161 NP_775184 Q8WWZ1 IL1FA_HUMAN Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA. 29 extracellular space cytokine activity|interleukin-1 receptor antagonist activity endometrium(1)|lung(6)|ovary(1) 8 AGCTGCTGGTGGGAGATCCTG 0.522000 44 8 0 0 0.000442599 0 0 APOL5 80831 broad.mit.edu 37 22 36122920 36122921 + Missense_Mutation DNP CC TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:36122920_36122921CC>TT uc003aof.3 + 2 805_806 c.805_806CC>TT c.(805-807)cct>TTt p.P269F NM_030642 NP_085145 Q9BWW9 APOL5_HUMAN Homo sapiens apolipoprotein L, 5 (APOL5), mRNA. 269 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 GAGACACATCCCTTTCTGGACG 0.540000 354 98 0 0 6.4e-05 0 0 abParts 0 broad.mit.edu 37 2 89495564 89495564 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:89495564G>A uc021vkt.1 - 30 c.3375_splice c.e30+1 abParts_uc021vku.1_Intron Parts of antibodies, mostly variable regions. TAGCACTGTGGGAGGATCTTG 0.527000 15 9 0 0 0.000978159 0 0 ESPNL 339768 broad.mit.edu 37 2 239025582 239025582 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:239025582C>T uc002vxq.4 + 4 1004 c.894C>T c.(892-894)tcC>tcT p.S298S ESPNL_uc010fyw.3_Intron NM_194312 NP_919288 Q6ZVH7 ESPNL_HUMAN Homo sapiens espin-like (ESPNL), mRNA. 298 endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) TGGACCCCTCCCTGCGGGATG 0.652000 35 16 0 0 0.000422831 0 0 ARHGAP19 84986 broad.mit.edu 37 10 99025842 99025842 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:99025842G>A uc001knb.3 - 1 143 c.97C>T c.(97-99)Ctt>Ttt p.L33F ARHGAP19_uc001kmy.3_Non-coding_Transcript|ARHGAP19_uc001kna.3_Missense_Mutation_p.L24F|ARHGAP19_uc009xvj.3_Missense_Mutation_p.L33F|ARHGAP19_uc009xvi.3_Non-coding_Transcript|ARHGAP19_uc009xvk.3_Intron NM_032900 NP_116289 Q14CB8 RHG19_HUMAN Homo sapiens Rho GTPase activating protein 19 (ARHGAP19), transcript variant 1, mRNA. 33 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|nucleus GTPase activator activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1) 13 Colorectal(252;0.0854) Epithelial(162;7.65e-09)|all cancers(201;4.49e-07) TGACCTCGAAGGGAAGAATCA 0.398000 28 18 0 0 0.00121646 0 0 IGSF3 3321 broad.mit.edu 37 1 117156446 117156446 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:117156446G>A uc001egq.1 - 3 1478 c.773C>T c.(772-774)tCg>tTg p.S258L IGSF3_uc001egr.1_Missense_Mutation_p.S258L NM_001542 NP_001533 O75054 IGSF3_HUMAN Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA. 258 Ig-like C2-type 2. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) AGCATACCACGACCCATCCGG 0.602000 44 8 0 0 0.000442599 0 0 KIAA0355 9710 broad.mit.edu 37 19 34833008 34833008 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:34833008C>T uc002nvd.4 + 9 3028 c.2169C>T c.(2167-2169)tcC>tcT p.S723S NM_014686 NP_055501 O15063 K0355_HUMAN Homo sapiens KIAA0355 (KIAA0355), mRNA. 723 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) AGCAGCAGTCCCCAAAGCAGC 0.657000 91 25 0 0 0.00047179 0 0 DENND2C 163259 broad.mit.edu 37 1 115147646 115147646 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:115147646G>A uc001efd.1 - 10 2266 c.1564C>T c.(1564-1566)Cat>Tat p.H522Y DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.H465Y NM_198459 NP_940861 Q68D51 DEN2C_HUMAN Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA. 522 UDENN. NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-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) TTATAGCCATGATCATCCTGA 0.363000 72 7 0 0 0.00198382 0 0 MDC1 9656 broad.mit.edu 37 6 30673675 30673675 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:30673675G>A uc003nrg.4 - 9 3725 c.3285C>T c.(3283-3285)tcC>tcT p.S1095S MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Silent_p.S702S NM_014641 NP_055456 Q14676 MDC1_HUMAN Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA. 1095 Pro-rich. Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 CCAGCTCTGAGGACAAGGGAG 0.552000 Other conserved DNA damage response genes 157 73 0 0 0.000781405 0 0 BPTF 2186 broad.mit.edu 37 17 65914840 65914840 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:65914840C>T uc002jgf.3 + 11 5375 c.5314C>T c.(5314-5316)Cag>Tag p.Q1772* BPTF_uc002jge.3_Nonsense_Mutation_p.Q1898* NM_182641 NP_872579 Q12830 BPTF_HUMAN Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA. 1898 Thr-rich. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex|cytoplasm sequence-specific DNA binding|transcription factor binding|zinc ion binding p.Q1772H(1) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) GTATAGACTTCAGACAGTAAA 0.423000 143 43 0 0 0.000781405 0 0 SORCS2 57537 broad.mit.edu 37 4 7684486 7684486 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:7684486G>A uc003gkb.4 + 9 1358 c.1358G>A c.(1357-1359)gGa>gAa p.G453E SORCS2_uc011bwi.2_Missense_Mutation_p.G281E NM_020777 NP_065828 Q96PQ0 SORC2_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA. 453 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 GGGGTGAAAGGAGTCTTCCTG 0.493000 10 7 0 0 0.00198382 0 0 LPO 4025 broad.mit.edu 37 17 56327781 56327781 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:56327781G>A uc002ivt.3 + 6 895 c.579G>A c.(577-579)cgG>cgA p.R193R LPO_uc010dco.2_Silent_p.R193R|LPO_uc010wnr.1_Silent_p.R110R|LPO_uc010wns.2_Silent_p.R134R|LPO_uc010dcp.3_Silent_p.R110R|LPO_uc010dcq.3_5'UTR|LPO_uc010dcr.3_5'Flank NM_006151 NP_006142 P22079 PERL_HUMAN Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA. 193 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 TGTAGGCCCGGGAGGTATCTA 0.473000 OREG0024609 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 31 0 0 0.000953801 0 0 MFNG 4242 broad.mit.edu 37 22 37881962 37881962 + Splice_Site SNP T G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:37881962T>G uc003ass.2 - 1 518 c.255_splice c.e1+1 p.Q85_splice MFNG_uc011anj.2_Missense_Mutation_p.Q85P|MFNG_uc011ani.2_Splice_Site|CARD10_uc003ast.1_Splice_Site NM_002405 NP_002396 O00587 MFNG_HUMAN Homo sapiens MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (MFNG), transcript variant 1, mRNA. 85 Q -> L (in Ref. 1; AAC51358). pattern specification process extracellular space|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity large_intestine(2)|lung(2)|skin(1) 5 Melanoma(58;0.0574) ACTTGTCACCTGTTCCCTGGT 0.612000 65 9 0 0 0.00136819 0 0 CFTR 1080 broad.mit.edu 37 7 117282597 117282597 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:117282597G>A uc003vjd.3 + 22 3955 c.3823G>A c.(3823-3825)Gat>Aat p.D1275N CFTR_uc011knq.2_Missense_Mutation_p.D681N NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 1275 ABC transporter 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TGTGTCTTGGGATTCAATAAC 0.403000 Cystic Fibrosis 18 19 0 0 0.00121646 0 0 GRIK1 2897 broad.mit.edu 37 21 30927556 30927556 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:30927556C>T uc002yno.1 - 15 2888 c.2424G>A c.(2422-2424)atG>atA p.M808I GRIK1_uc002ynn.3_Missense_Mutation_p.M793I|GRIK1_uc011acs.2_Missense_Mutation_p.M808I|GRIK1_uc011act.2_Missense_Mutation_p.M669I NM_000830 NP_000821 P39086 GRIK1_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA. 808 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TCTCTTTCATCATATGCAGCT 0.458000 87 37 0 0 0.00128727 0 0 SLC17A4 10050 broad.mit.edu 37 6 25776929 25776930 + Missense_Mutation DNP CC TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:25776929_25776930CC>TT uc003nfe.3 + 8 1213_1214 c.1094_1095CC>TT c.(1093-1095)acc>aTT p.T365I SLC17A4_uc011djx.2_Missense_Mutation_p.T135I|SLC17A4_uc003nff.1_Missense_Mutation_p.T126I|SLC17A4_uc003nfg.3_Missense_Mutation_p.T302I|SLC17A4_uc010jqa.3_Intron NM_005495 NP_005486 Q9Y2C5 S17A4_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA. 365 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 AGACTCATCACCATCAGGAAAC 0.485000 31 16 0 0 6.4e-05 0 0 PRDM13 59336 broad.mit.edu 37 6 100056687 100056687 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:100056687G>A uc003pqg.1 + 1 476 c.215G>A c.(214-216)cGg>cAg p.R72Q NM_021620 NP_067633 Q9H4Q3 PRD13_HUMAN Homo sapiens PR domain containing 13 (PRDM13), mRNA. 72 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.I71L(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1) 17 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) GGGTTAATCCGGGCAGCCAGA 0.622000 13 9 0 0 0.000442599 0 0 PROM2 150696 broad.mit.edu 37 2 95954681 95954681 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:95954681C>T uc002suk.3 + 23 2575 c.2442_splice c.e23-1 p.S814_splice PROM2_uc002suh.2_Splice_Site_p.S814_splice|PROM2_uc002sui.3_Splice_Site_p.S814_splice|PROM2_uc002suj.3_Splice_Site_p.S468_splice|PROM2_uc002sul.3_Splice_Site_p.S340_splice|PROM2_uc002sum.3_Splice_Site NM_001165977 NP_653308 Q8N271 PROM2_HUMAN Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA. 814 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 GACACTGCAGCTCCACCAGCT 0.577000 89 24 0 0 0.000878237 0 0 GAS2L2 246176 broad.mit.edu 37 17 34074223 34074223 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:34074223C>T uc002hjv.2 - 4 925 c.897G>A c.(895-897)caG>caA p.Q299Q NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA. 299 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGGGTCCATCCTGTACCCTTA 0.587000 112 72 0 0 0.000781405 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18574073 18574073 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:18574073G>A uc003zne.4 + 3 435 c.283G>A c.(283-285)Gct>Act p.A95T ADAMTSL1_uc003znb.3_Missense_Mutation_p.A95T|ADAMTSL1_uc003znc.4_Missense_Mutation_p.A95T NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA. 95 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GCAATGCTCAGCTCATAATGA 0.473000 7 35 0 0 0.00111076 0 0 SLC2A11 66035 broad.mit.edu 37 22 24227064 24227064 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:24227064C>T uc011ajc.1 + 10 2029 c.1539C>T c.(1537-1539)gcC>gcT p.A513A SLC2A11_uc002zym.4_3'UTR|SLC2A11_uc002zyn.4_3'UTR|SLC2A11_uc002zyo.4_Non-coding_Transcript|SLC2A11_uc002zyp.4_3'UTR Q9BYW1 GTR11_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 11 (SLC2A11), transcript variant 1, mRNA. 0 integral to membrane|plasma membrane sugar transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 12 GAGCCAAAGCCAGCTACTGTC 0.582000 8 17 0 0 0.000422831 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110412520 110412520 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:110412520G>A uc003yne.3 + 12 1332 c.1228G>A c.(1228-1230)Ggt>Agt p.G410S NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 410 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CTACATCAAGGGTGATGACCG 0.383000 HNSCC(38;0.096) 86 22 0 0 0.00278032 0 0 EPPK1 83481 broad.mit.edu 37 8 144940898 144940898 + Missense_Mutation SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:144940898T>C uc003zaa.1 - 0 6537 c.6524A>G c.(6523-6525)cAa>cGa p.Q2175R NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 2175 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCTAATTCCTTGGAACCACAG 0.517000 258 76 0 0 0.000781405 0 0 HIVEP3 59269 broad.mit.edu 37 1 42050037 42050037 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:42050037G>A uc001cgz.4 - 3 1645 c.432C>T c.(430-432)ctC>ctT p.L144L HIVEP3_uc001cha.4_Silent_p.L144L|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. 144 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) GGGAAGGAAGGAGCTGGCTCT 0.612000 75 72 0 0 0.000781405 0 0 OR8B8 26493 broad.mit.edu 37 11 124310965 124310965 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:124310965G>A uc010sal.2 - 0 17 c.17C>T c.(16-18)tCc>tTc p.S6F NM_012378 NP_036510 Q15620 OR8B8_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA. 6 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) CACGAAGGAGGAATTCTCAGC 0.502000 12 15 0 0 0.000308642 0 0 TCL6 27004 broad.mit.edu 37 14 96136862 96136862 + RNA SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:96136862C>T uc001yep.1 + 7 c.1661C>T TCL6_uc021sbf.1_Non-coding_Transcript|TCL6_uc021sbg.1_Non-coding_Transcript|TCL6_uc021sbh.1_Non-coding_Transcript|TCL6_uc001yet.1_Non-coding_Transcript|TCL6_uc001yeu.2_Non-coding_Transcript|TCL6_uc001yev.2_Intron|TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript Homo sapiens T-cell leukemia/lymphoma 6 (non-protein coding) (TCL6), non-coding RNA. large_intestine(1)|lung(7) 8 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) GTCCTTTTTTCCTTCCTTCTC 0.502000 T TRA@ T-ALL 32 10 0 0 0.000442599 0 0 SENP7 57337 broad.mit.edu 37 3 101062652 101062652 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:101062652G>A uc003dut.3 - 13 2095 c.1984C>T c.(1984-1986)Cct>Tct p.P662S SENP7_uc003duu.3_Missense_Mutation_p.P597S|SENP7_uc003duv.3_Missense_Mutation_p.P629S|SENP7_uc003duw.3_Missense_Mutation_p.P596S|SENP7_uc003dux.3_Missense_Mutation_p.P498S NM_020654 NP_065705 Q9BQF6 SENP7_HUMAN Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA. 662 proteolysis nucleus cysteine-type peptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TGAAACAAAGGAAATGCCTGA 0.358000 22 23 0 0 0.00229938 0 0 BACH2 60468 broad.mit.edu 37 6 90660443 90660443 + Missense_Mutation SNP G A A rs144153232 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:90660443G>A uc011eab.2 - 6 2256 c.1382C>T c.(1381-1383)cCg>cTg p.P461L BACH2_uc003pnw.3_Missense_Mutation_p.P461L|BACH2_uc010kch.3_Missense_Mutation_p.P461L NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA. 461 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CTTTGGCACCGGCTCAGAGAG 0.617000 18 24 0 0 0.000878237 0 0 TRPC6 7225 broad.mit.edu 37 11 101347198 101347198 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:101347198C>T uc001pgk.4 - 5 2003 c.1578G>A c.(1576-1578)tgG>tgA p.W526* TRPC6_uc009ywy.3_Nonsense_Mutation_p.W410*|TRPC6_uc009ywz.1_Nonsense_Mutation_p.W471* NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA. 526 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CAAGCATGTTCCACAACTCAA 0.413000 24 22 0 0 0.00152264 0 0 POPDC2 64091 broad.mit.edu 37 3 119367193 119367193 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:119367193G>A uc003ecx.1 - 2 1057 c.923C>T c.(922-924)cCc>cTc p.P308L POPDC2_uc010hqw.1_Missense_Mutation_p.P308L|POPDC2_uc003ecy.1_Missense_Mutation_p.P126L NM_022135 NP_071418 Q9HBU9 POPD2_HUMAN Homo sapiens popeye domain containing 2 (POPDC2), mRNA. 308 integral to membrane breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 13 GBM - Glioblastoma multiforme(114;0.242) AGAACAAGGGGGTGTTTGCTG 0.607000 17 32 0 0 0.000814825 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209935880 209935880 + Silent SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:209935880A>G uc001hho.3 + 3 786 c.366A>G c.(364-366)gaA>gaG p.E122E TRAF3IP3_uc001hhm.2_Silent_p.E122E|TRAF3IP3_uc001hhn.3_Silent_p.E102E|TRAF3IP3_uc009xcr.3_Silent_p.E122E NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA. 122 integral to membrane protein binding breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) CCAGCTCTGAAGTCTTTCCAG 0.567000 74 14 0 0 0.00244969 0 0 MYOZ1 58529 broad.mit.edu 37 10 75397560 75397560 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:75397560A>G uc001jur.3 - 2 559 c.194T>C c.(193-195)aTg>aCg p.M65T NM_021245 NP_067068 Q9NP98 MYOZ1_HUMAN Homo sapiens myozenin 1 (MYOZ1), mRNA. 65 myofibril assembly nucleus|pseudopodium FATZ binding central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2) 12 Prostate(51;0.0112) CTCCACCCTCATCTGCCGCAG 0.483000 64 55 0 0 0.000781405 0 0 PKD2L1 9033 broad.mit.edu 37 10 102089628 102089628 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:102089628C>T uc001kqx.1 - 0 616 c.233G>A c.(232-234)aGa>aAa p.R78K PKD2L1_uc009xwm.1_Missense_Mutation_p.E24K NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA. 78 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) TCTGGTACCTCTGATGCCTTG 0.547000 29 19 0 0 0.00152264 0 0 CCDC159 126075 broad.mit.edu 37 19 11460799 11460799 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:11460799C>T uc010xlw.1 + 4 478 c.399C>T c.(397-399)ttC>ttT p.F133F CCDC159_uc010xlr.2_Silent_p.F50F|CCDC159_uc010xls.2_Silent_p.F50F|CCDC159_uc010xlt.2_Silent_p.F50F|CCDC159_uc010xlu.2_Silent_p.F49F|CCDC159_uc010xlv.2_Silent_p.F49F NM_001080503 NP_001073972 P0C7I6 CC159_HUMAN Homo sapiens coiled-coil domain containing 159 (CCDC159), mRNA. 165 endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 5 CCCAGGCTTTCGAGTTCCTGA 0.562000 21 5 0 0 0.000602214 0 0 LRIG3 121227 broad.mit.edu 37 12 59271441 59271441 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:59271441G>A uc001sqr.3 - 14 2523 c.2277C>T c.(2275-2277)gtC>gtT p.V759V LRIG3_uc009zqh.3_Silent_p.V699V|LRIG3_uc010ssh.2_Non-coding_Transcript NM_153377 NP_700356 Q6UXM1 LRIG3_HUMAN Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA. 759 Ig-like C2-type 3. integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) CAGCATCACTGACATCTGAGT 0.498000 T ROS1 NSCLC 46 81 0 0 0.000781405 0 0 DENND3 22898 broad.mit.edu 37 8 142161922 142161922 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:142161922G>A uc003yvy.3 + 6 1098 c.820G>A c.(820-822)Gaa>Aaa p.E274K DENND3_uc010mep.3_Missense_Mutation_p.E287K NM_014957 NP_055772 A2RUS2 DEND3_HUMAN Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA. 274 DENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CGACCACTTCGAAGAAGTCAG 0.552000 86 33 0 0 0.00111076 0 0 SCAND3 114821 broad.mit.edu 37 6 28540556 28540556 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:28540556C>T uc003nlo.3 - 3 3728 c.3110G>A c.(3109-3111)aGa>aAa p.R1037K NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 1037 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 agagaataatcttgaattcaa 0.303000 18 11 0 0 0.000978159 0 0 RYR3 6263 broad.mit.edu 37 15 33855043 33855043 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:33855043C>T uc001zhi.3 + 10 1048 c.978C>T c.(976-978)ctC>ctT p.L326L RYR3_uc010bar.3_Silent_p.L326L NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 326 MIR 4. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.L326L(2) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ATTAGGAACTCAAGGAGAAAT 0.388000 9 8 0 0 0.000157383 0 0 EFS 10278 broad.mit.edu 37 14 23826617 23826617 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:23826617C>T uc001wjo.3 - 5 2112 c.1504G>A c.(1504-1506)Gca>Aca p.A502T EFS_uc001wjp.3_Missense_Mutation_p.A409T|EFS_uc010tnm.2_Missense_Mutation_p.A333T NM_005864 NP_005855 O43281 EFS_HUMAN Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA. 502 cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) CTGACCTGTGCTCTCAGAGGG 0.657000 24 7 0 0 0.00198382 0 0 GABRA3 2556 broad.mit.edu 37 X 151532952 151532952 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:151532952C>T uc010ntk.1 - 1 331 c.91G>A c.(91-93)Gaa>Aaa p.E31K NM_000808 NP_000799 P34903 GBRA3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA. 31 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CGTCTTGATTCCCCTTGACCA 0.448000 5 75 0 0 0.000781405 0 0 ATP6V1C2 245973 broad.mit.edu 37 2 10922464 10922464 + Missense_Mutation SNP G C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:10922464G>C uc002ras.3 + 12 1266 c.1157G>C c.(1156-1158)cGa>cCa p.R386P ATP6V1C2_uc002rat.3_Missense_Mutation_p.R340P NM_001039362 NP_001034451 Q8NEY4 VATC2_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA. 386 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) TCTGTCTTCCGACATCTGGAT 0.443000 28 40 0 0 0.00128727 0 0 S100A3 6274 broad.mit.edu 37 1 153520175 153520175 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:153520175G>A uc001fca.1 - 2 372 c.289C>T c.(289-291)Ccc>Tcc p.P97S S100A4_uc001fby.3_5'Flank|S100A4_uc001fbz.3_5'Flank|AK307246_uc009wog.1_Intron NM_002960 NP_002951 P33764 S10A3_HUMAN Homo sapiens S100 calcium binding protein A3 (S100A3), mRNA. 97 calcium ion binding|protein binding breast(1)|liver(1)|lung(1) 3 all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GAGCAGGGGGGCTCTGAGGGG 0.622000 73 37 0 0 0.00195071 0 0 TP53BP1 7158 broad.mit.edu 37 15 43712807 43712807 + Silent SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:43712807A>T uc001zrs.3 - 20 4510 c.4362T>A c.(4360-4362)gcT>gcA p.A1454A TP53BP1_uc010udp.2_Silent_p.A1454A|TP53BP1_uc001zrq.4_Silent_p.A1459A|TP53BP1_uc001zrr.4_Silent_p.A1459A|TP53BP1_uc010udq.1_Silent_p.A1459A NM_005657 NP_005648 Q12888 TP53B_HUMAN Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA. 1454 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GCAAAGCACCAGCACCCACAT 0.522000 Other conserved DNA damage response genes 55 11 0 0 0.000673444 0 0 MYOCD 93649 broad.mit.edu 37 17 12655993 12655993 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:12655993C>T uc002gno.2 + 9 1687 c.1388C>T c.(1387-1389)tCt>tTt p.S463F MYOCD_uc002gnn.2_Missense_Mutation_p.S463F|MYOCD_uc002gnp.1_Missense_Mutation_p.S367F|MYOCD_uc002gnq.2_Missense_Mutation_p.S182F NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 463 Ser-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CCAGCCTCCTCTGACCTGTCA 0.622000 24 19 0 0 0.00121646 0 0 abParts 0 broad.mit.edu 37 14 106385436 106385436 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:106385436G>A uc021ser.1 - 3259 c.52453_splice c.e3259-1 KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron|KIAA0125_uc001yss.3_Intron|KIAA0125_uc001yst.3_Intron Parts of antibodies, mostly variable regions. GGGGCCTCCTGGATGGGGGCT 0.632000 28 8 0 0 0.000442599 0 0 DISP1 84976 broad.mit.edu 37 1 223163993 223163994 + Missense_Mutation DNP CG AT AT rs139326650 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:223163993_223163994CG>AT uc001hnu.2 + 5 892_893 c.566_567CG>AT c.(565-567)ccg>cAT p.P189H NM_032890 NP_116279 Q96F81 DISP1_HUMAN Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA. 189 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) GCCGACTGGCCGGTGGTGGTCT 0.495000 818 12 0 0 6.4e-05 0 0 HCFC1 3054 broad.mit.edu 37 X 153224144 153224144 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:153224144G>A uc004fjp.3 - 9 2207 c.1679C>T c.(1678-1680)cCc>cTc p.P560L NM_005334 NP_005325 P51610 HCFC1_HUMAN Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA. 560 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGAGGAAGGGGGGATCTTCTG 0.657000 22 13 0 0 0.00136819 0 0 PROM1 8842 broad.mit.edu 37 4 16034954 16034954 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:16034954G>A uc003goo.2 - 3 694 c.482C>T c.(481-483)tCc>tTc p.S161F PROM1_uc003gor.2_Missense_Mutation_p.S161F|PROM1_uc003gos.2_Missense_Mutation_p.S152F|PROM1_uc003got.2_Missense_Mutation_p.S161F|PROM1_uc003gou.2_Missense_Mutation_p.S152F|PROM1_uc003gop.2_Missense_Mutation_p.S152F|PROM1_uc003goq.3_Missense_Mutation_p.S152F|PROM1_uc010iec.1_Missense_Mutation_p.S39F NM_006017 NP_006008 O43490 PROM1_HUMAN Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA. 161 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 CACCAACAGGGAGATTGCAAA 0.383000 24 34 0 0 0.000692331 0 0 ZNF423 23090 broad.mit.edu 37 16 49671905 49671905 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:49671905G>A uc002efs.3 - 4 1456 c.1158C>T c.(1156-1158)tcC>tcT p.S386S ZNF423_uc010vgn.2_Silent_p.S269S NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN Homo sapiens zinc finger protein 423 (ZNF423), mRNA. 386 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GCTTCAAGGTGGAGTCCGGGG 0.637000 32 8 0 0 0.000274275 0 0 CACNG8 59283 broad.mit.edu 37 19 54483246 54483246 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:54483246C>T uc002qcs.2 + 2 600 c.493C>T c.(493-495)Ctg>Ttg p.L165L CACNG8_uc021vbd.1_5'Flank NM_031895 NP_114101 Q8WXS5 CCG8_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 8 (CACNG8), mRNA. 165 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1) 13 all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.162) CGCAGGGATCCTGTTCGTGGC 0.672000 21 9 0 0 0.000978159 0 0 PAK6 56924 broad.mit.edu 37 15 40558353 40558353 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:40558353G>A uc010bbl.3 + 4 955 c.515G>A c.(514-516)gGg>gAg p.G172E PAK6_uc010bbm.3_Missense_Mutation_p.G172E|PAK6_uc001zky.4_Missense_Mutation_p.G172E|PAK6_uc010bbn.3_Missense_Mutation_p.G172E|PAK6_uc001zlb.3_Missense_Mutation_p.G172E NM_001128628 NP_064553 Q9NQU5 PAK6_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 6 (PAK6), transcript variant 2, mRNA. 172 Linker. ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2) 24 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) CTGCCCAATGGGCTGGCTGCA 0.692000 3 5 0 0 0.000602214 0 0 MASP2 10747 broad.mit.edu 37 1 11087255 11087255 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:11087255C>T uc001aru.3 - 10 1780 c.1748G>A c.(1747-1749)aGa>aAa p.R583K NM_006610 NP_006601 O00187 MASP2_HUMAN Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA. 583 Peptidase S1. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) CATTAGATTTCTAGCAAGAAA 0.418000 79 105 0 0 0.000781405 0 0 CACNA1E 777 broad.mit.edu 37 1 181549846 181549846 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:181549846C>T uc009wxt.3 + 5 1080 c.885C>T c.(883-885)atC>atT p.I295I CACNA1E_uc001gow.3_Silent_p.I295I|CACNA1E_uc009wxs.3_Silent_p.I295I|CACNA1E_uc009wxr.3_Silent_p.I202I NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 295 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.I295I(3) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TTGATAACATCCTTTTTGCTG 0.547000 72 20 0 0 0.000958276 0 0 CFH 3075 broad.mit.edu 37 1 196642210 196642210 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:196642210C>T uc001gtj.4 + 1 401 c.161C>T c.(160-162)cCt>cTt p.P54L CFH_uc001gti.4_Missense_Mutation_p.P54L|CFH_uc009wyw.3_Missense_Mutation_p.P54L|CFH_uc009wyx.3_Missense_Mutation_p.P54L NM_000186 NP_000177 P08603 CFAH_HUMAN Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 54 Sushi 1. RP -> IL (in Ref. 5; CAB41739). complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 AAATGCCGCCCTGGATATAGA 0.403000 74 18 0 0 0.00074312 0 0 METTL11A 28989 broad.mit.edu 37 9 132397675 132397675 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:132397675C>T uc004byd.1 + 3 798 c.604C>T c.(604-606)Ctg>Ttg p.L202L METTL11A_uc011mbs.1_3'UTR|METTL11A_uc010myw.1_Non-coding_Transcript|ASB6_uc004bye.1_3'UTR|ASB6_uc004byf.2_3'UTR|ASB6_uc010myx.2_3'UTR|ASB6_uc004byg.2_3'UTR|ASB6_uc011mbt.2_3'UTR NM_014064 NP_054783 Q9BV86 NTM1A_HUMAN Homo sapiens methyltransferase like 11A (METTL11A), mRNA. 202 N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|chromosome segregation|spindle organization nucleus protein binding|protein methyltransferase activity breast(2)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 7 CCTCAGCCTCCTGGCCGAGGA 0.617000 73 53 0 0 0.000781405 0 0 TRIM29 23650 broad.mit.edu 37 11 119986080 119986080 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:119986080G>A uc001pwz.3 - 7 1794 c.1670C>T c.(1669-1671)cCc>cTc p.P557L TRIM29_uc001pwx.3_Non-coding_Transcript|TRIM29_uc010rzi.2_Missense_Mutation_p.P296L|TRIM29_uc010rzj.2_Missense_Mutation_p.P290L|TRIM29_uc001pxa.3_Non-coding_Transcript NM_012101 NP_036233 Q14134 TRI29_HUMAN Homo sapiens tripartite motif containing 29 (TRIM29), mRNA. 557 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) CCAAGTCTGGGGCTGGGCCTT 0.627000 30 17 0 0 0.00278032 0 0 PRKAG1 5571 broad.mit.edu 37 12 49397341 49397341 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:49397341G>A uc001rsy.3 - 10 847 c.741_splice c.e10+1 p.I247_splice PRKAG1_uc010smd.2_Splice_Site_p.I215_splice|PRKAG1_uc001rsz.3_Splice_Site_p.I256_splice NM_002733 NP_001193639 P54619 AAKG1_HUMAN Homo sapiens protein kinase, AMP-activated, gamma 1 non-catalytic subunit (PRKAG1), transcript variant 1, mRNA. 247 CBS 3. cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis cytosol cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 9 AATCACTCACGATAACATCAA 0.532000 32 7 0 0 0.000157383 0 0 DFNA5 1687 broad.mit.edu 37 7 24745866 24745866 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:24745866G>A uc010kus.1 - 7 1208 c.1120C>T c.(1120-1122)Ccc>Tcc p.P374S DFNA5_uc003sxa.1_Missense_Mutation_p.P374S|DFNA5_uc010kut.1_Missense_Mutation_p.P210S NM_001127453 NP_001120926 O60443 DFNA5_HUMAN Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA. 374 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 GCATCCTCGGGGCCCGGACAC 0.597000 48 29 0 0 0.0024448 0 0 CEACAM18 729767 broad.mit.edu 37 19 51986310 51986310 + Missense_Mutation SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:51986310A>C uc002pwv.1 + 4 896 c.896A>C c.(895-897)gAt>gCt p.D299A NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA. 299 Ig-like C2-type. integral to membrane p.V298L(1) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) AATCCTGATGATTTCAACGGC 0.537000 168 46 0 0 0.000781405 0 0 GJA4 2701 broad.mit.edu 37 1 35260362 35260362 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:35260362C>T uc009vul.3 + 1 800 c.776C>T c.(775-777)cCc>cTc p.P259L GJA4_uc001bya.3_Missense_Mutation_p.P183L|GJA4_uc009vum.1_Missense_Mutation_p.P183L|GJA4_uc021olb.1_Missense_Mutation_p.P183L NM_002060 NP_002051 P35212 CXA4_HUMAN Homo sapiens gap junction protein, alpha 4, 37kDa (GJA4), mRNA. 183 cell-cell junction assembly integral to plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1) 14 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) ACCATGGAGCCCGTGTTTGTG 0.587000 60 17 0 0 0.000566183 0 0 ZNF318 24149 broad.mit.edu 37 6 43325230 43325230 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:43325230G>A uc003oux.3 - 2 900 c.822C>T c.(820-822)ccC>ccT p.P274P ZNF318_uc003ouw.3_Non-coding_Transcript NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN Homo sapiens zinc finger protein 318 (ZNF318), mRNA. 274 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CATCATAACGGGGTCTTTTGG 0.488000 27 35 0 0 0.000814825 0 0 PCNT 5116 broad.mit.edu 37 21 47819662 47819662 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:47819662C>T uc002zji.4 + 24 4850 c.4743C>T c.(4741-4743)ctC>ctT p.L1581L PCNT_uc002zjj.3_Silent_p.L1463L NM_006031 NP_006022 O95613 PCNT_HUMAN Homo sapiens pericentrin (PCNT), mRNA. 1581 G2/M transition of mitotic cell cycle|cilium assembly cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) TGGCCCAGCTCCAGGAAGAAG 0.473000 112 38 0 0 0.000814825 0 0 CPA3 1359 broad.mit.edu 37 3 148601524 148601524 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:148601524C>T uc003ewm.3 + 8 955 c.903C>T c.(901-903)atC>atT p.I301I NM_001870 NP_001861 P15088 CBPA3_HUMAN Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA. 301 I -> T (in Ref. 5; AAB22578). proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) AGGTTTACATCACCTTCCATT 0.438000 35 15 0 0 0.000566183 0 0 MAP7 9053 broad.mit.edu 37 6 136698940 136698940 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:136698940G>A uc011edg.2 - 6 1019 c.770C>T c.(769-771)tCg>tTg p.S257L MAP7_uc011edf.2_Missense_Mutation_p.S220L|MAP7_uc010kgu.3_Missense_Mutation_p.S257L|MAP7_uc011edh.2_Missense_Mutation_p.S220L|MAP7_uc010kgv.3_Missense_Mutation_p.S257L|MAP7_uc010kgs.3_Missense_Mutation_p.S89L|MAP7_uc011edi.2_Missense_Mutation_p.S89L|MAP7_uc010kgq.2_Missense_Mutation_p.S141L|MAP7_uc003qgz.3_Missense_Mutation_p.S235L|MAP7_uc003qha.2_Missense_Mutation_p.S198L|MAP7_uc010kgr.2_Missense_Mutation_p.S89L|MAP7_uc010kgt.2_Missense_Mutation_p.S257L NM_001198609 NP_001185538 Q14244 MAP7_HUMAN Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA. 235 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) GGCCAGGAACGAATGTGTGGG 0.527000 46 26 0 0 0.00127121 0 0 ANKLE1 126549 broad.mit.edu 37 19 17396343 17396343 + Missense_Mutation SNP C T T rs149727291 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:17396343C>T uc010xpn.1 + 6 1678 c.1564C>T c.(1564-1566)Cgg>Tgg p.R522W ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Missense_Mutation_p.R494W|ANKLE1_uc010eao.1_Missense_Mutation_p.R490W|ANKLE1_uc002nfy.2_Missense_Mutation_p.R457W|ANKLE1_uc002nfz.2_Missense_Mutation_p.R200W Q8NAG6 ANKL1_HUMAN Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA. 494 nuclear envelope large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 GACGAGGGCCCGGCCATATGT 0.617000 112 39 0 0 0.00128727 0 0 RYR2 6262 broad.mit.edu 37 1 237969439 237969439 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:237969439C>T uc001hyl.1 + 98 14274 c.14154C>T c.(14152-14154)tcC>tcT p.S4718S RYR2_uc010pyb.1_Silent_p.S151S NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 4718 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTTAATAGTCCTTCCTCTACC 0.398000 64 7 0 0 0.000157383 0 0 NFIA 4774 broad.mit.edu 37 1 61553989 61553989 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:61553989G>A uc010oos.2 + 2 413 c.331G>A c.(331-333)Gag>Aag p.E111K NFIA_uc001czy.3_Missense_Mutation_p.E58K|NFIA_uc001czw.3_Missense_Mutation_p.E66K|NFIA_uc001czv.3_Missense_Mutation_p.E66K NM_001145512 NP_001138984 Q12857 NFIA_HUMAN Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA. 66 DNA replication|viral genome replication cell junction|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NFIA/EHF(2) endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1) 34 TGAAAAACCAGAGGTCAAGCA 0.428000 63 18 0 0 0.00188189 0 0 MX2 4600 broad.mit.edu 37 21 42767678 42767678 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:42767678G>A uc002yzf.1 + 6 1140 c.1036G>A c.(1036-1038)Gaa>Aaa p.E346K MX2_uc011aer.1_Non-coding_Transcript|MX2_uc002yzg.1_Missense_Mutation_p.E69K NM_002463 NP_002454 P20592 MX2_HUMAN Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA. 346 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) AACCAAGAAAGAAATTACATT 0.488000 47 8 0 0 0.00136819 0 0 SHCBP1L 81626 broad.mit.edu 37 1 182908376 182908376 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:182908376C>T uc001gpu.3 - 4 1296 c.1011G>A c.(1009-1011)tgG>tgA p.W337* SHCBP1L_uc001gpv.3_Nonsense_Mutation_p.W218*|SHCBP1L_uc010pnz.2_Nonsense_Mutation_p.W195*|SHCBP1L_uc001gpw.3_Nonsense_Mutation_p.W57* NM_030933 NP_112195 Q9BZQ2 SHP1L_HUMAN Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA. 409 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2) 15 AGTATTTTTTCCAGCATTCAA 0.358000 48 60 0 0 0.000781405 0 0 ECEL1 9427 broad.mit.edu 37 2 233348801 233348802 + Missense_Mutation DNP CC GT GT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:233348801_233348802CC>GT uc002vsv.2 - 6 1521_1522 c.1316_1317GG>AC c.(1315-1317)cgg>cAC p.R439H ECEL1_uc010fya.1_Missense_Mutation_p.R439H|ECEL1_uc010fyb.1_Missense_Mutation_p.R146H NM_004826 NP_004817 O95672 ECEL1_HUMAN Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA. 439 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 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;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) CCAAGCAGACCCGGGCCAGCTC 0.629000 61 30 0 0 6.4e-05 0 0 LRPPRC 10128 broad.mit.edu 37 2 44171034 44171034 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:44171034C>T uc002rtr.2 - 23 2355 c.2297_splice c.e23-1 p.D766_splice LRPPRC_uc010yob.1_Splice_Site_p.D666_splice NM_133259 NP_573566 P42704 LPPRC_HUMAN Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA. 766 mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm RNA binding|beta-tubulin binding|microtubule binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TTAATAGCATCTACAATGAAG 0.368000 223 75 0 0 0.000781405 0 0 ZNF253 56242 broad.mit.edu 37 19 20002848 20002848 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:20002848C>T uc002noj.3 + 3 884 c.792C>T c.(790-792)gcC>gcT p.A264A ZNF253_uc002nok.3_Silent_p.A188A|ZNF253_uc002nol.3_Non-coding_Transcript NM_021047 NP_066385 O75346 ZN253_HUMAN Homo sapiens zinc finger protein 253 (ZNF253), mRNA. 264 Missing (in Ref. 1; AAC26844). negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GTGGCAAAGCCTTCAACCGAT 0.413000 28 10 0 0 0.000442599 0 0 FRAS1 80144 broad.mit.edu 37 4 79429917 79429917 + Silent SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:79429917A>G uc003hlb.2 + 62 9977 c.9537A>G c.(9535-9537)gaA>gaG p.E3179E FRAS1_uc003hlc.1_Silent_p.E181E NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 3174 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 ACCATGTGGAAGAAGTTACCA 0.522000 25 8 0 0 0.000157383 0 0 NCKAP5 344148 broad.mit.edu 37 2 133540786 133540786 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:133540786C>T uc002ttp.3 - 13 3972 c.3598G>A c.(3598-3600)Gag>Aag p.E1200K NCKAP5_uc002ttq.3_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 1200 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GCTGTGATCTCCATGCTTGCT 0.488000 54 18 0 0 0.000566183 0 0 CCDC88C 440193 broad.mit.edu 37 14 91763744 91763744 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:91763744G>A uc010aty.3 - 21 4025 c.3871C>T c.(3871-3873)Ctg>Ttg p.L1291L NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA. 1291 Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation cytoplasm|insoluble fraction PDZ domain binding|microtubule binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TTGAGCTCCAGCTGCGCGTTG 0.602000 16 13 0 0 0.00185496 0 0 KRT33B 3884 broad.mit.edu 37 17 39521250 39521250 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:39521250C>T uc002hwl.3 - 6 922 c.877_splice c.e6-1 p.R293_splice NM_002279 NP_002270 Q14525 KT33B_HUMAN Homo sapiens keratin 33B (KRT33B), mRNA. 293 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity p.R293Q(1) NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000496) CAGAGAGTATCGCTGTGGTGG 0.552000 25 14 0 0 0.00185496 0 0 ACAN 176 broad.mit.edu 37 15 89402028 89402028 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:89402028G>A uc010upo.1 + 11 6586 c.6212G>A c.(6211-6213)gGa>gAa p.G2071E ACAN_uc010upp.1_Missense_Mutation_p.G2071E|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 2071 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GAGTCCAGTGGAAAAGTCTCC 0.522000 14 9 0 0 0.000442599 0 0 CACNA1G 8913 broad.mit.edu 37 17 48653522 48653522 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:48653522G>A uc002irk.1 + 7 2131 c.1759G>A c.(1759-1761)Ggg>Agg p.G587R CACNA1G_uc002iri.1_Missense_Mutation_p.G587R|CACNA1G_uc002irj.1_Missense_Mutation_p.G587R|CACNA1G_uc002irl.1_Missense_Mutation_p.G587R|CACNA1G_uc002irm.1_Missense_Mutation_p.G587R|CACNA1G_uc002irn.1_Missense_Mutation_p.G587R|CACNA1G_uc002iro.1_Missense_Mutation_p.G587R|CACNA1G_uc002irp.1_Missense_Mutation_p.G587R|CACNA1G_uc002irq.1_Missense_Mutation_p.G587R|CACNA1G_uc002irr.1_Missense_Mutation_p.G587R|CACNA1G_uc002irs.1_Missense_Mutation_p.G587R|CACNA1G_uc002irt.1_Missense_Mutation_p.G587R|CACNA1G_uc002iru.1_Missense_Mutation_p.G587R|CACNA1G_uc002irv.1_Missense_Mutation_p.G587R|CACNA1G_uc002irw.1_Missense_Mutation_p.G587R|CACNA1G_uc002irx.1_Missense_Mutation_p.G500R|CACNA1G_uc002iry.1_Missense_Mutation_p.G500R|CACNA1G_uc002isg.1_Missense_Mutation_p.G500R|CACNA1G_uc002ish.1_Missense_Mutation_p.G500R|CACNA1G_uc002isi.1_Missense_Mutation_p.G500R|CACNA1G_uc002irz.1_Missense_Mutation_p.G500R|CACNA1G_uc002isa.1_Missense_Mutation_p.G500R|CACNA1G_uc002isd.1_Missense_Mutation_p.G500R|CACNA1G_uc002isb.1_Missense_Mutation_p.G500R|CACNA1G_uc002isc.1_Missense_Mutation_p.G500R|CACNA1G_uc002ise.1_Missense_Mutation_p.G500R|CACNA1G_uc002isf.1_Missense_Mutation_p.G500R NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 587 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TGTGGGCAGCGGGAAGGTGTA 0.657000 7 5 0 0 0.000602214 0 0 INSC 387755 broad.mit.edu 37 11 15197305 15197305 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:15197305G>A uc001mlz.3 + 2 186 c.75G>A c.(73-75)gtG>gtA p.V25V INSC_uc001mly.3_Silent_p.V72V|INSC_uc001mma.3_Silent_p.V25V|INSC_uc010rcs.2_Silent_p.V25V|INSC_uc001mmb.3_Silent_p.V25V|INSC_uc001mmc.3_Silent_p.V25V NM_001042536 NP_001036001 Q1MX18 INSC_HUMAN Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA. 72 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 TGATGCAGGTGGACTCAGTCC 0.512000 20 5 0 0 0.000602214 0 0 SCAND3 114821 broad.mit.edu 37 6 28540782 28540782 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:28540782A>G uc003nlo.3 - 3 3502 c.2884T>C c.(2884-2886)Ttt>Ctt p.F962L NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 962 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 caaaatttaaattccaaacca 0.368000 26 11 0 0 0.000673444 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509277 106509277 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:106509277C>T uc003vdv.4 + 1 1356 c.1271C>T c.(1270-1272)cCc>cTc p.P424L PIK3CG_uc003vdu.3_Missense_Mutation_p.P424L|PIK3CG_uc003vdw.3_Missense_Mutation_p.P424L NM_002649 NP_002640 P48736 PK3CG_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA. 424 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 AAAGACTTGCCCAAAGGGGCT 0.522000 3 48 0 0 0.000781405 0 0 ELP3 55140 broad.mit.edu 37 8 28017872 28017872 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:28017872C>T uc003xgo.4 + 12 1532 c.1384C>T c.(1384-1386)Cgt>Tgt p.R462C ELP3_uc003xgn.4_Missense_Mutation_p.R447C|ELP3_uc011las.2_Missense_Mutation_p.R343C|ELP3_uc011lat.2_Missense_Mutation_p.R343C|ELP3_uc011laq.2_Missense_Mutation_p.R390C|ELP3_uc011lar.2_Missense_Mutation_p.R370C NM_018091 NP_060561 Q9H9T3 ELP3_HUMAN Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA. 462 N-acetyltransferase. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) AGAAACTTTCCGTTTCGAATT 0.473000 18 13 0 0 0.00185496 0 0 TMC5 79838 broad.mit.edu 37 16 19451968 19451968 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:19451968G>A uc002dgc.4 + 2 1357 c.608G>A c.(607-609)gGa>gAa p.G203E TMC5_uc010vaq.2_Missense_Mutation_p.G203E|TMC5_uc002dgb.4_Missense_Mutation_p.G203E|TMC5_uc010var.2_Missense_Mutation_p.G203E NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 203 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 GACTCTCTGGGAAAGCCTGAT 0.473000 40 32 0 0 0.00283554 0 0 ANK3 288 broad.mit.edu 37 10 62023647 62023647 + Silent SNP C T T rs145034480 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:62023647C>T uc001jky.3 - 5 983 c.645G>A c.(643-645)acG>acA p.T215T ANK3_uc010qih.2_Silent_p.T198T|ANK3_uc001jkz.4_Silent_p.T209T|ANK3_uc001jlb.1_5'UTR NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 215 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding p.D214N(1) NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CGGCGGCTTTCGTGTCGTCTT 0.542000 20 14 0 0 0.00244969 0 0 PLSCR2 57047 broad.mit.edu 37 3 146177693 146177693 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:146177693C>T uc021xfa.1 - 3 658 c.218G>A c.(217-219)tGg>tAg p.W73* PLSCR2_uc003evw.2_Nonsense_Mutation_p.W69*|PLSCR2_uc003evv.2_5'UTR NM_001199978 NP_001186907 Q9NRY7 PLS2_HUMAN Homo sapiens phospholipid scramblase 2 (PLSCR2), transcript variant 1, mRNA. 0 phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity endometrium(2)|large_intestine(5)|lung(7)|stomach(1) 15 TGCTGGCATCCATGGTACCCC 0.463000 25 33 0 0 0.00058488 0 0 C12orf66 144577 broad.mit.edu 37 12 64609701 64609701 + Missense_Mutation SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:64609701A>T uc001srw.4 - 1 337 c.278T>A c.(277-279)aTc>aAc p.I93N NM_152440 NP_689653 Q96MD2 CL066_HUMAN Homo sapiens chromosome 12 open reading frame 66 (C12orf66), mRNA. 93 p.T92T(1) central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1) 5 TGAAGTATAGATGGTGCGGAT 0.507000 27 11 0 0 0.000978159 0 0 IRF2 3660 broad.mit.edu 37 4 185311898 185311898 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:185311898C>T uc003iwf.4 - 7 900 c.700G>A c.(700-702)Gaa>Aaa p.E234K NM_002199 NP_002190 P14316 IRF2_HUMAN Homo sapiens interferon regulatory factor 2 (IRF2), mRNA. 234 blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 22 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) TCAGTCGTTTCGCTTTCTGTT 0.537000 45 14 0 0 0.00244969 0 0 AQPEP 206338 broad.mit.edu 37 5 115327846 115327846 + Missense_Mutation SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:115327846A>C uc003kro.3 + 4 1296 c.1132A>C c.(1132-1134)Aac>Cac p.N378H AQPEP_uc003krp.3_Non-coding_Transcript NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN Homo sapiens laeverin (AQPEP), mRNA. 378 proteolysis integral to membrane metallopeptidase activity|zinc ion binding TAGTTTTGACAACCATGCAAT 0.313000 51 24 0 0 0.00106085 0 0 TRIOBP 11078 broad.mit.edu 37 22 38130869 38130869 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:38130869G>A uc003atr.3 + 8 4797 c.4526G>A c.(4525-4527)aGa>aAa p.R1509K TRIOBP_uc003atu.3_Missense_Mutation_p.R1337K NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA. 1509 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CTAGGAAAGAGAAGCCCACTC 0.647000 68 14 0 0 0.00185496 0 0 GTSF1 121355 broad.mit.edu 37 12 54856450 54856450 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:54856450G>A uc001sgb.3 - 4 390 c.304C>T c.(304-306)Cct>Tct p.P102S NM_144594 NP_653195 Q8WW33 GTSF1_HUMAN Homo sapiens gametocyte specific factor 1 (GTSF1), mRNA. 102 metal ion binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(1001;0.00452) TCATCGCAAGGAGGGCACTGC 0.438000 83 42 0 0 0.000781405 0 0 SLC4A10 57282 broad.mit.edu 37 2 162833288 162833288 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:162833288C>T uc002ubx.4 + 24 3430 c.3246C>T c.(3244-3246)atC>atT p.I1082I SLC4A10_uc010zcs.2_Silent_p.I1063I|SLC4A10_uc002uby.4_Silent_p.I1052I NM_001178015 NP_001171486 Q6U841 S4A10_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA. 1082 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity p.I1052I(1)|p.I1082I(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 CATCTGTGATCAATATATCTG 0.363000 7 10 0 0 0.000673444 0 0 BEST3 144453 broad.mit.edu 37 12 70088168 70088168 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:70088168G>A uc001svg.3 - 2 456 c.229C>T c.(229-231)Cca>Tca p.P77S BEST3_uc001svd.2_Missense_Mutation_p.P77S|BEST3_uc010stm.2_Intron|BEST3_uc001svi.1_Intron NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA. 77 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) AAGGTTACTGGAATTTGTTCA 0.403000 11 14 0 0 0.00244969 0 0 CACNA1E 777 broad.mit.edu 37 1 181762920 181762920 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:181762920G>A uc009wxt.3 + 44 6213 c.6018G>A c.(6016-6018)gtG>gtA p.V2006V CACNA1E_uc001gow.3_Intron|CACNA1E_uc009wxs.3_Intron NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 2006 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GTCTGACTGTGGATCCCCAGG 0.502000 24 16 0 0 0.000958276 0 0 USH2A 7399 broad.mit.edu 37 1 216073442 216073442 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:216073442C>T uc001hku.1 - 39 7956 c.7569G>A c.(7567-7569)tgG>tgA p.W2523* NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 2523 Fibronectin type-III 11. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGAATGGAATCCAAGAACTAT 0.423000 HNSCC(13;0.011) 75 12 0 0 0.000422831 0 0 OR1J1 347168 broad.mit.edu 37 9 125239944 125239944 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:125239944G>A uc011lyu.2 - 0 262 c.262C>T c.(262-264)Cag>Tag p.Q88* OR1J2_uc004bmj.2_Intron NM_001004451 NP_001004451 Q8NGS3 OR1J1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA. 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 16 GCTAGGTGCTGAGTCTGCATG 0.428000 58 51 0 0 0.000781405 0 0 ASAP2 8853 broad.mit.edu 37 2 9474912 9474912 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:9474912C>T uc002qzh.2 + 7 1072 c.732C>T c.(730-732)tcC>tcT p.S244S ASAP2_uc002qzi.2_Silent_p.S244S NM_003887 NP_003878 O43150 ASAP2_HUMAN Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA. 244 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding p.P243T(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 TCAAACCTTCCATTGAAACGC 0.393000 80 26 0 0 0.00209593 0 0 CACNA1F 778 broad.mit.edu 37 X 49061645 49061646 + Missense_Mutation DNP GA AT AT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:49061645_49061646GA>AT uc004dnb.3 - 47 5947_5948 c.5885_5886TC>AT c.(5884-5886)ttc>tAT p.F1962Y CACNA1F_uc010nip.3_Missense_Mutation_p.F1951Y NM_005183 NP_005174 O60840 CAC1F_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA. 1962 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) CCTCCTCATCGAAGCGGGAGAG 0.604000 0 13 0 0 6.4e-05 0 0 MLXIPL 51085 broad.mit.edu 37 7 73010233 73010233 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:73010233C>T uc003tyn.1 - 13 2173 c.2125G>A c.(2125-2127)Ggc>Agc p.G709S MLXIPL_uc003tyj.1_Missense_Mutation_p.G88S|MLXIPL_uc003tyk.1_Missense_Mutation_p.G688S|MLXIPL_uc003tym.1_Missense_Mutation_p.G690S|MLXIPL_uc003tyl.1_Missense_Mutation_p.G707S|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.G615S NM_032951 NP_116569 Q9NP71 WBS14_HUMAN Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA. 709 Leucine-zipper. anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) TCCTGCAAGCCCGCACGCTCC 0.632000 0 30 0 0 0.00178596 0 0 CACNA1G 8913 broad.mit.edu 37 17 48650027 48650027 + Missense_Mutation SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:48650027A>C uc002irk.1 + 5 1231 c.859A>C c.(859-861)Acg>Ccg p.T287P CACNA1G_uc002iri.1_Missense_Mutation_p.T287P|CACNA1G_uc002irj.1_Missense_Mutation_p.T287P|CACNA1G_uc002irl.1_Missense_Mutation_p.T287P|CACNA1G_uc002irm.1_Missense_Mutation_p.T287P|CACNA1G_uc002irn.1_Missense_Mutation_p.T287P|CACNA1G_uc002iro.1_Missense_Mutation_p.T287P|CACNA1G_uc002irp.1_Missense_Mutation_p.T287P|CACNA1G_uc002irq.1_Missense_Mutation_p.T287P|CACNA1G_uc002irr.1_Missense_Mutation_p.T287P|CACNA1G_uc002irs.1_Missense_Mutation_p.T287P|CACNA1G_uc002irt.1_Missense_Mutation_p.T287P|CACNA1G_uc002iru.1_Missense_Mutation_p.T287P|CACNA1G_uc002irv.1_Missense_Mutation_p.T287P|CACNA1G_uc002irw.1_Missense_Mutation_p.T287P|CACNA1G_uc002irx.1_Missense_Mutation_p.T200P|CACNA1G_uc002iry.1_Missense_Mutation_p.T200P|CACNA1G_uc002isg.1_Missense_Mutation_p.T200P|CACNA1G_uc002ish.1_Missense_Mutation_p.T200P|CACNA1G_uc002isi.1_Missense_Mutation_p.T200P|CACNA1G_uc002irz.1_Missense_Mutation_p.T200P|CACNA1G_uc002isa.1_Missense_Mutation_p.T200P|CACNA1G_uc002isd.1_Missense_Mutation_p.T200P|CACNA1G_uc002isb.1_Missense_Mutation_p.T200P|CACNA1G_uc002isc.1_Missense_Mutation_p.T200P|CACNA1G_uc002ise.1_Missense_Mutation_p.T200P|CACNA1G_uc002isf.1_Missense_Mutation_p.T200P NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 287 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) AAGCGTGCCCACGCTGCGCGG 0.622000 10 3 0 0 6.4e-05 0 0 FLNC 2318 broad.mit.edu 37 7 128494728 128494728 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:128494728G>A uc003vnz.4 + 40 7198 c.6989G>A c.(6988-6990)gGc>gAc p.G2330D FLNC_uc003voa.4_Missense_Mutation_p.G2297D NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 2330 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GGTGTGGCCGGCGTGCCAGGT 0.672000 19 8 0 0 0.000157383 0 0 CSF2RB 1439 broad.mit.edu 37 22 37333557 37333557 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:37333557C>T uc003aqa.4 + 13 1924 c.1707C>T c.(1705-1707)ccC>ccT p.P569P CSF2RB_uc003aqc.4_Silent_p.P575P NM_000395 NP_000386 P32927 IL3RB_HUMAN Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA. 569 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) CCCCCAGCCCCCAGCCAGGCC 0.642000 52 17 0 0 0.00229938 0 0 HEPHL1 341208 broad.mit.edu 37 11 93826760 93826760 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:93826760G>A uc001pep.2 + 12 2545 c.2388G>A c.(2386-2388)gtG>gtA p.V796V AF086184_uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN Homo sapiens hephaestin-like 1 (HEPHL1), mRNA. 796 Plastocyanin-like 5. copper ion transport integral to membrane copper ion binding|oxidoreductase activity p.T795K(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) GAGAATTTGTGGAGATCAAAG 0.478000 36 33 0 0 0.00209593 0 0 TTC30B 150737 broad.mit.edu 37 2 178416698 178416698 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:178416698C>T uc002uln.3 - 0 827 c.794G>A c.(793-795)aGa>aAa p.R265K TTC30B_uc010zfc.1_Missense_Mutation_p.R37K NM_152517 NP_689730 Q8N4P2 TT30B_HUMAN Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA. 265 cell projection organization cilium binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) CTCATAGTTTCTCAGTTGGTA 0.512000 119 45 0 0 0.00222228 0 0 TRERF1 55809 broad.mit.edu 37 6 42237097 42237097 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:42237097C>T uc003ose.2 - 4 795 c.232G>A c.(232-234)Gat>Aat p.D78N TRERF1_uc011duq.1_Missense_Mutation_p.D78N|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Missense_Mutation_p.D78N NM_033502 NP_277037 Q96PN7 TREF1_HUMAN Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA. 78 cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTCGAGGTATCCATTTGGCCA 0.582000 37 40 0 0 0.00148497 0 0 PASK 23178 broad.mit.edu 37 2 242080004 242080004 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:242080004G>A uc002wao.2 - 2 494 c.361C>T c.(361-363)Cct>Tct p.P121S PASK_uc010zol.2_Intron|PASK_uc010zom.2_Missense_Mutation_p.P121S|PASK_uc010fzl.2_Missense_Mutation_p.P121S|PASK_uc010zon.2_Intron|PASK_uc021vzf.1_Missense_Mutation_p.P121S|PASK_uc002waq.3_Missense_Mutation_p.P121S NM_015148 NP_055963 Q96RG2 PASK_HUMAN Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA. 121 PAS 1. regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|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;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) GGAAGCAGAGGTGAGGACCAC 0.612000 42 11 0 0 0.00185496 0 0 NCR3 259197 broad.mit.edu 37 6 31557900 31557900 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:31557900G>A uc003nuv.2 - 1 311 c.47C>T c.(46-48)tCc>tTc p.S16F NCR3_uc003nuw.2_Missense_Mutation_p.S16F|NCR3_uc003nux.1_Missense_Mutation_p.S16F NM_147130 NP_667341 O14931 NCTR3_HUMAN Homo sapiens natural cytotoxicity triggering receptor 3 (NCR3), transcript variant 1, mRNA. 16 cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity integral to plasma membrane receptor activity p.S16F(2) cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2) 9 GAGAGCACAGGATCCTGGGGG 0.562000 11 11 0 0 0.000673444 0 0 KCNA5 3741 broad.mit.edu 37 12 5154166 5154166 + Missense_Mutation SNP C G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:5154166C>G uc001qni.3 + 0 1082 c.853C>G c.(853-855)Cct>Gct p.P285A NM_002234 NP_002225 P22460 KCNA5_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA. 285 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 GCTCCGCCACCCTCCGGCGCC 0.682000 46 28 0 0 0.000878237 0 0 ABCC4 10257 broad.mit.edu 37 13 95673930 95673930 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:95673930A>G uc001vmd.4 - 30 3996 c.3877T>C c.(3877-3879)Ttc>Ctc p.F1293L ABCC4_uc010afj.3_Missense_Mutation_p.F84L|ABCC4_uc010afk.3_Missense_Mutation_p.F1246L NM_005845 NP_005836 O15439 MRP4_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA. 1293 platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TTTCTTTTGAAGTATACCTAG 0.368000 2 39 0 0 0.00285205 0 0 NUP160 23279 broad.mit.edu 37 11 47862106 47862106 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:47862106C>T uc001ngm.3 - 2 434 c.349G>A c.(349-351)Gag>Aag p.E117K NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Missense_Mutation_p.E117K|NUP160_uc001ngn.1_Missense_Mutation_p.E117K NM_015231 NP_056046 Q12769 NU160_HUMAN Homo sapiens nucleoporin 160kDa (NUP160), mRNA. 117 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|cytosol nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 TCCAGTGACTCCTCCATCAGC 0.388000 29 29 0 0 0.00178596 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884964 24884964 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:24884964C>T uc001wpf.4 + 8 4327 c.4009C>T c.(4009-4011)Ccc>Tcc p.P1337S NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA. 1337 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GCCCACCAGCCCCCCTGTCTC 0.612000 95 37 0 0 0.000692331 0 0 LRRC7 57554 broad.mit.edu 37 1 70488833 70488833 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:70488833G>A uc001dep.3 + 14 1486 c.1456G>A c.(1456-1458)Gaa>Aaa p.E486K LRRC7_uc009wbg.3_Intron NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA. 486 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AGCCCCCTGGGAAAGGGGCCA 0.517000 28 16 0 0 0.00074312 0 0 SRP68 6730 broad.mit.edu 37 17 74060080 74060080 + Missense_Mutation SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:74060080C>A uc002jqk.1 - 3 573 c.538G>T c.(538-540)Gcc>Tcc p.A180S SRP68_uc010wsu.1_Missense_Mutation_p.A79S|SRP68_uc002jql.1_Missense_Mutation_p.A142S NM_014230 NP_055045 Q9UHB9 SRP68_HUMAN Homo sapiens signal recognition particle 68kDa (SRP68), mRNA. 180 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 TTGGTCTTGGCATCCACGCGA 0.443000 113 40 5.44703e-19 1.99287e-18 0.00222228 1 0 COL1A2 1278 broad.mit.edu 37 7 94055744 94055744 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:94055744G>A uc003ung.1 + 45 3478 c.3007G>A c.(3007-3009)Ggc>Agc p.G1003S COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA. 1003 G -> D (in OI2A). Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GGGCCCACAAGGCATTCGTGG 0.468000 HNSCC(75;0.22) 1 16 0 0 0.000422831 0 0 EIF4G1 1981 broad.mit.edu 37 3 184035276 184035276 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:184035276C>T uc003fnp.3 + 4 586 c.315C>T c.(313-315)atC>atT p.I105I EIF4G1_uc003fno.2_Intron|EIF4G1_uc010hxw.2_Intron|EIF4G1_uc010hxx.3_Silent_p.I112I|EIF4G1_uc003fnt.3_Intron|EIF4G1_uc010hxy.3_Silent_p.I112I|EIF4G1_uc003fnq.3_Silent_p.I18I|EIF4G1_uc003fnr.3_Intron|EIF4G1_uc003fns.3_Silent_p.I65I|EIF4G1_uc010hxz.2_Silent_p.I18I|EIF4G1_uc003fnv.4_Silent_p.I105I|EIF4G1_uc003fnw.3_Silent_p.I112I|EIF4G1_uc003fnx.3_5'Flank NM_198241 NP_937885 Q04637 IF4G1_HUMAN Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA. 105 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCTACTACATCCCTGGACAGG 0.587000 32 11 0 0 0.00185496 0 0 ZNF418 147686 broad.mit.edu 37 19 58437893 58437893 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:58437893G>A uc002qqs.1 - 3 1948 c.1656C>T c.(1654-1656)tcC>tcT p.S552S ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Silent_p.S467S NM_133460 NP_597717 Q8TF45 ZN418_HUMAN Homo sapiens zinc finger protein 418 (ZNF418), mRNA. 552 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S551C(1) cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) GTCGAAGGAGGGAAGAGCTCT 0.453000 82 24 0 0 0.00106085 0 0 MUC16 94025 broad.mit.edu 37 19 9086274 9086274 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9086274G>A uc002mkp.3 - 0 5745 c.5541C>T c.(5539-5541)ctC>ctT p.L1847L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1847 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.L1847L(3) 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 CCCCATGGCTGAGGTCAAGTG 0.502000 51 11 0 0 0.000978159 0 0 NOX4 50507 broad.mit.edu 37 11 89135579 89135579 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:89135579C>T uc001pct.3 - 8 1000 c.761G>A c.(760-762)gGa>gAa p.G254E NOX4_uc009yvr.3_Missense_Mutation_p.G229E|NOX4_uc001pcu.3_Missense_Mutation_p.G180E|NOX4_uc001pcw.3_Intron|NOX4_uc001pcx.3_Intron|NOX4_uc001pcv.3_Missense_Mutation_p.G254E|NOX4_uc009yvo.3_Intron|NOX4_uc010rtu.2_Missense_Mutation_p.G88E|NOX4_uc009yvp.3_Intron|NOX4_uc010rtv.2_Missense_Mutation_p.G230E|NOX4_uc009yvq.3_Missense_Mutation_p.G230E|NOX4_uc009yvs.1_Non-coding_Transcript NM_016931 NP_001137309 Q9NPH5 NOX4_HUMAN Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA. 254 Ferric oxidoreductase.|Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) TTTTGAAAATCCTTCAGGGAA 0.423000 27 22 0 0 0.00278032 0 0 ATG4B 23192 broad.mit.edu 37 2 242610752 242610752 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:242610752C>T uc002wbv.3 + 11 1143 c.1040C>T c.(1039-1041)cCc>cTc p.P347L ATG4B_uc002wbu.3_Missense_Mutation_p.P273L|ATG4B_uc002wbw.3_Missense_Mutation_p.P347L|ATG4B_uc010zox.2_Missense_Mutation_p.P333L|ATG4B_uc010zoy.2_Missense_Mutation_p.P273L|ATG4B_uc010fzp.3_Missense_Mutation_p.P347L|ATG4B_uc010zoz.2_Missense_Mutation_p.P273L|ATG4B_uc002wby.3_Missense_Mutation_p.P100L|ATG4B_uc021vzj.1_5'Flank NM_013325 NP_037457 Q9Y4P1 ATG4B_HUMAN Homo sapiens ATG4 autophagy related 4 homolog B (S. cerevisiae) (ATG4B), transcript variant 1, mRNA. 347 autophagic vacuole assembly|protein transport|proteolysis cytoplasm cysteine-type peptidase activity|protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848) GGTGCCCTGCCCATGTTTGAG 0.627000 19 6 0 0 0.00198382 0 0 FAT3 120114 broad.mit.edu 37 11 92086899 92086899 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:92086899G>A uc001pdj.4 + 0 1638 c.1621G>A c.(1621-1623)Gaa>Aaa p.E541K NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 541 Cadherin 5. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATCCTCCCCAGAAATTTACAG 0.398000 TCGA Ovarian(4;0.039) 118 114 0 0 0.000781405 0 0 RHOBTB3 22836 broad.mit.edu 37 5 95119555 95119555 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:95119555C>T uc003klm.3 + 9 2048 c.1511C>T c.(1510-1512)tCc>tTc p.S504F NM_014899 NP_055714 O94955 RHBT3_HUMAN Homo sapiens Rho-related BTB domain containing 3 (RHOBTB3), mRNA. 504 Interaction with Rab9. retrograde transport, endosome to Golgi Golgi apparatus ATP binding|ATPase activity|Rab GTPase binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1) 16 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) TACCAAGTGTCCAGACTGCAG 0.483000 111 52 0 0 0.000781405 0 0 PRDM2 7799 broad.mit.edu 37 1 14107394 14107394 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:14107394C>T uc001avi.3 + 7 3960 c.3104C>T c.(3103-3105)cCt>cTt p.P1035L PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.P1035L|PRDM2_uc001avk.3_Missense_Mutation_p.P834L|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA. 1035 Pro-rich. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) TCTCCCATTCCTCCCGTGGAG 0.572000 65 20 0 0 0.00152264 0 0 DSG3 1830 broad.mit.edu 37 18 29052688 29052688 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:29052688G>A uc002kws.3 + 14 2147 c.2038_splice c.e14-1 p.E680_splice DSG3_uc002kwt.3_5'Flank NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 680 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding p.E680K(1) breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGGTTTGCAGGAAATCACAAA 0.353000 52 11 0 0 0.000673444 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561420 11561420 + Missense_Mutation SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:11561420T>C uc001ash.4 + 1 509 c.371T>C c.(370-372)cTg>cCg p.L124P PTCHD2_uc001asi.1_Missense_Mutation_p.L124P NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN Homo sapiens patched domain containing 2 (PTCHD2), mRNA. 124 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GCTCTCACTCTGGCGCTTAAG 0.572000 57 8 0 0 0.000274275 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125833439 125833439 + Silent SNP G T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:125833439G>T uc003eim.1 - 17 2233 c.2043C>A c.(2041-2043)atC>atA p.I681I ALDH1L1_uc010hse.1_Intron|ALDH1L1_uc011bki.1_Silent_p.I580I|ALDH1L1_uc003ein.1_Silent_p.I216I NM_012190 NP_036322 O75891 AL1L1_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA. 681 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) CAGCAAAGATGATGAGGGGTG 0.617000 79 36 4.14194e-30 1.51921e-29 0.00285205 1 0 CHST5 23563 broad.mit.edu 37 16 75563490 75563490 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:75563490G>A uc002fej.1 - 4 1132 c.811C>T c.(811-813)Cgc>Tgc p.R271C CHST5_uc002fei.3_Missense_Mutation_p.R265C|CHST5_uc021tlk.1_Missense_Mutation_p.R265C NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA. 265 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity p.S270I(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 CACACCTCGCGAATCAGGCGC 0.716000 46 19 0 0 0.00074312 0 0 SUPT5H 6829 broad.mit.edu 37 19 39959788 39959788 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:39959788C>T uc002olo.4 + 14 1392 c.1213C>T c.(1213-1215)Ctg>Ttg p.L405L SUPT5H_uc002olp.4_Silent_p.L405L|SUPT5H_uc002olq.4_Silent_p.L401L|SUPT5H_uc002oln.4_Silent_p.L405L|SUPT5H_uc002olr.4_Silent_p.L405L|SUPT5H_uc002ols.1_Silent_p.L28L|SUPT5H_uc010egp.1_5'Flank NM_001111020 NP_003160 O00267 SPT5H_HUMAN Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA. 405 Interaction with RNA polymerase II. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GGGCATTGACCTGGAGGTGGT 0.597000 68 17 0 0 0.000422831 0 0 REN 5972 broad.mit.edu 37 1 204128574 204128574 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:204128574G>A uc001haq.2 - 4 686 c.642C>T c.(640-642)atC>atT p.I214I NM_000537 NP_000528 P00797 RENI_HUMAN Homo sapiens renin (REN), mRNA. 214 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1) 19 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) CCCCTTGGGAGATGATGTTGT 0.562000 79 17 0 0 0.00121646 0 0 THSD7B 80731 broad.mit.edu 37 2 137928430 137928430 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:137928430G>A uc002tva.1 + 5 1552 c.1552G>A c.(1552-1554)Gaa>Aaa p.E518K THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.E408K NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GCTGGCATCAGAAGGGATCTG 0.537000 28 10 0 0 0.000673444 0 0 C10orf12 26148 broad.mit.edu 37 10 98744594 98744594 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:98744594C>T uc001kmv.3 + 0 3554 c.3447C>T c.(3445-3447)atC>atT p.I1149I NM_015652 NP_056467 Q8N655 CJ012_HUMAN Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA. 1149 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) AAGTGAAGATCCCTAAAAAGT 0.502000 26 10 0 0 0.000978159 0 0 PSME2 5721 broad.mit.edu 37 14 24613200 24613200 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:24613200G>A uc001wmj.3 - 8 601 c.536C>T c.(535-537)tCc>tTc p.S179F FAM158A_uc001wmi.3_5'Flank|RNF31_uc001wml.1_5'Flank NM_002818 NP_002809 Q9UL46 PSME2_HUMAN Homo sapiens proteasome (prosome, macropain) activator subunit 2 (PA28 beta) (PSME2), mRNA. 179 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction proteasome activator complex endometrium(1)|lung(3)|prostate(2) 6 GBM - Glioblastoma multiforme(265;0.00839) AGTCTCCTTGGAGGCCTTGGC 0.537000 101 45 0 0 0.000781405 0 0 CAPN6 827 broad.mit.edu 37 X 110494210 110494210 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:110494210C>T uc004epc.2 - 7 1284 c.1093G>A c.(1093-1095)Gat>Aat p.D365N CAPN6_uc011msu.2_Missense_Mutation_p.D110N NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN Homo sapiens calpain 6 (CAPN6), mRNA. 365 Domain III. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 ATCAGGGGATCATCATCCACA 0.473000 92 86 0 0 0.000781405 0 0 SLC2A3 6515 broad.mit.edu 37 12 8082411 8082411 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:8082411C>T uc001qtr.3 - 5 992 c.730G>A c.(730-732)Gat>Aat p.D244N NM_006931 NP_008862 P11169 GTR3_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA. 244 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) GCACTCTCATCTTTCATCTCC 0.483000 88 6 0 0 0.000978159 0 0 CXCR1 3577 broad.mit.edu 37 2 219029419 219029419 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:219029419G>A uc021vwq.1 - 0 516 c.516C>T c.(514-516)ttC>ttT p.F172F CXCR1_uc002vhc.3_Silent_p.F172F NM_000634 NP_000625 P25024 CXCR1_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA. 172 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 GGCGGAAAAGGAAGAAGGGCA 0.517000 27 13 0 0 0.000308642 0 0 APOB 338 broad.mit.edu 37 2 21249778 21249778 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:21249778C>T uc002red.3 - 14 2254 c.2126G>A c.(2125-2127)gGa>gAa p.G709E NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 709 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGGGAAAAATCCTTGCTTCCC 0.418000 399 130 0 0 0.000781405 0 0 VENTX 27287 broad.mit.edu 37 10 135053291 135053291 + Missense_Mutation SNP C T T rs139243086 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:135053291C>T uc010quy.1 + 1 364 c.353C>T c.(352-354)cCt>cTt p.P118L NM_014468 NP_055283 O95231 VENTX_HUMAN Homo sapiens VENT homeobox (VENTX), mRNA. 118 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1) 14 all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05) TACCTGAGCCCTCTGGAGCGG 0.677000 52 12 0 0 0.000308642 0 0 CSMD3 114788 broad.mit.edu 37 8 113403015 113403015 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:113403015G>A uc003ynu.3 - 35 5971 c.5812C>T c.(5812-5814)Ccc>Tcc p.P1938S CSMD3_uc003yns.3_Missense_Mutation_p.P1140S|CSMD3_uc003ynt.3_Missense_Mutation_p.P1898S|CSMD3_uc011lhx.2_Missense_Mutation_p.P1834S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 1938 integral to membrane|plasma membrane p.P1938P(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CCACCACAGGGCACTGAAAAT 0.388000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 10 25 0 0 0.00278032 0 0 KANK4 163782 broad.mit.edu 37 1 62739788 62739788 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:62739788C>T uc001dah.4 - 2 1365 c.988G>A c.(988-990)Gaa>Aaa p.E330K KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA. 330 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 CCCAGGCTTTCCTCAGTTACC 0.572000 88 19 0 0 0.00121646 0 0 ITGA5 3678 broad.mit.edu 37 12 54799118 54799118 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:54799118G>A uc001sga.3 - 11 1125 c.1057C>T c.(1057-1059)Cgg>Tgg p.R353W ITGA5_uc010sow.1_Non-coding_Transcript|ITGA5_uc009znp.1_Non-coding_Transcript NM_002205 NP_002196 P08648 ITA5_HUMAN Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA. 353 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 TCAGGGGTCCGATCCATGAGC 0.657000 17 6 0 0 0.00198382 0 0 DNAH5 1767 broad.mit.edu 37 5 13727616 13727616 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:13727616C>T uc003jfd.2 - 70 12075 c.12033_splice c.e70+1 p.Q4011_splice DNAH5_uc003jfc.2_Splice_Site_p.Q179_splice NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 4011 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GACTTTTTACCTGGGCGATGG 0.338000 Kartagener syndrome 24 8 0 0 0.000274275 0 0 SPTBN4 57731 broad.mit.edu 37 19 41063071 41063071 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:41063071G>A uc002ony.3 + 25 5518 c.5432G>A c.(5431-5433)gGa>gAa p.G1811E SPTBN4_uc002onx.3_Missense_Mutation_p.G1811E|SPTBN4_uc002onz.3_Missense_Mutation_p.G1811E|SPTBN4_uc010egx.3_Missense_Mutation_p.G554E|SPTBN4_uc002ooa.3_Missense_Mutation_p.G487E NM_020971 NP_066022 Q9H254 SPTN4_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA. 1811 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport PML body|cytosol|nuclear matrix|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) TGGAAGGACGGACTGAACGAG 0.637000 35 25 0 0 0.00106085 0 0 KRBA1 84626 broad.mit.edu 37 7 149422475 149422475 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:149422475C>T uc003wfz.3 + 9 1595 c.1196C>T c.(1195-1197)tCg>tTg p.S399L KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Missense_Mutation_p.S67L NM_032534 NP_115923 A5PL33 KRBA1_HUMAN Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA. 399 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCAAATGGGTCGTCACCTTCC 0.582000 11 11 0 0 0.000978159 0 0 CSMD3 114788 broad.mit.edu 37 8 114185968 114185968 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:114185968G>A uc003ynu.3 - 3 851 c.692C>T c.(691-693)cCt>cTt p.P231L CSMD3_uc003ynt.3_Missense_Mutation_p.P191L|CSMD3_uc011lhx.2_Missense_Mutation_p.P231L|CSMD3_uc010mcx.1_Missense_Mutation_p.P231L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 231 Sushi 1. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GATAGGAACAGGAAAATCCCA 0.418000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 52 9 0 0 0.000978159 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68935687 68935687 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:68935687G>A uc003hdt.1 - 6 602 c.553_splice c.e6+1 p.R185_splice LOC550112_uc003hdl.4_Intron|BC041902_uc011cak.2_Intron NM_207407 NP_997290 Q6ZWK6 TM11F_HUMAN Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA. 185 proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 TGGAACTTACGACTGTTGAGA 0.318000 75 107 0 0 0.000781405 0 0 LCN15 389812 broad.mit.edu 37 9 139656668 139656668 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:139656668C>T uc004cjd.3 - 4 517 c.492G>A c.(490-492)aaG>aaA p.K164K NM_203347 NP_976222 Q6UWW0 LCN15_HUMAN Homo sapiens lipocalin 15 (LCN15), mRNA. 164 K -> E (in dbSNP:rs2297722). lipid metabolic process extracellular region binding|transporter activity endometrium(1)|lung(1) 2 CCATCATGTCCTTGGGGAGCC 0.647000 1 5 0 0 0.00198382 0 0 MUC16 94025 broad.mit.edu 37 19 9046168 9046168 + Silent SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9046168A>C uc002mkp.3 - 4 35667 c.35463T>G c.(35461-35463)tcT>tcG p.S11821S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11823 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 GGGTGAAGAGAGAGGATGTTG 0.493000 22 20 0 0 0.00121646 0 0 MYO18B 84700 broad.mit.edu 37 22 26270358 26270358 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:26270358C>T uc003abz.1 + 22 4307 c.4057C>T c.(4057-4059)Cgc>Tgc p.R1353C MYO18B_uc003aca.1_Missense_Mutation_p.R1234C|MYO18B_uc010guy.1_Missense_Mutation_p.R1235C|MYO18B_uc010guz.1_Missense_Mutation_p.R1234C|MYO18B_uc011aka.1_Missense_Mutation_p.R507C|MYO18B_uc011akb.1_Missense_Mutation_p.R866C NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 1353 IQ. nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity p.S1353C(1) NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CTTTCTGTCTCGCCAGGAATT 0.547000 63 16 0 0 0.000308642 0 0 CLVS1 157807 broad.mit.edu 37 8 62212699 62212699 + Silent SNP C T T rs149356822 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:62212699C>T uc003xuh.3 + 1 637 c.313C>T c.(313-315)Ctg>Ttg p.L105L CLVS1_uc003xug.2_Silent_p.L105L|CLVS1_uc003xui.3_Intron NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN Homo sapiens clavesin 1 (CLVS1), mRNA. 105 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 CCAGCTAAACCTGGACATGTT 0.517000 18 9 0 0 0.000274275 0 0 C1orf168 199920 broad.mit.edu 37 1 57206409 57206409 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:57206409C>T uc001cym.4 - 12 2070 c.1664G>A c.(1663-1665)aGa>aAa p.R555K C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA. 555 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 TATTTTAAATCTATCCTTTTC 0.348000 12 5 0 0 0.000157383 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72152246 72152246 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:72152246C>T uc001xms.3 + 9 3633 c.3272C>T c.(3271-3273)tCg>tTg p.S1091L SIPA1L1_uc001xmt.3_Missense_Mutation_p.S1091L|SIPA1L1_uc001xmu.3_Missense_Mutation_p.S1091L|SIPA1L1_uc001xmv.3_Missense_Mutation_p.S1091L|SIPA1L1_uc010ttm.2_Missense_Mutation_p.S566L NM_015556 NP_056371 O43166 SI1L1_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA. 1091 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CCCATGACCTCGCGGCTGAAT 0.562000 35 10 0 0 0.000442599 0 0 DNAJB7 150353 broad.mit.edu 37 22 41257788 41257788 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:41257788C>T uc003azj.3 - 0 343 c.211G>A c.(211-213)Gaa>Aaa p.E71K XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_3'UTR|XPNPEP3_uc003azg.2_Non-coding_Transcript|XPNPEP3_uc010gyh.1_5'Flank NM_145174 NP_660157 Q7Z6W7 DNJB7_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA. 71 protein folding heat shock protein binding|unfolded protein binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 TTTAATCCTTCTGTGCCATAT 0.348000 372 59 0 0 0.000781405 0 0 ATP2B2 491 broad.mit.edu 37 3 10430007 10430007 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:10430007G>A uc003bvt.3 - 5 1300 c.861C>T c.(859-861)acC>acT p.T287T ATP2B2_uc003bvv.3_Silent_p.T287T|ATP2B2_uc003bvw.3_Silent_p.T287T|ATP2B2_uc010hdp.2_Silent_p.T287T|ATP2B2_uc010hdo.3_Silent_p.T23T NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA. 287 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding p.F286Y(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CCCCCAGGAGGGTAAAGATGA 0.522000 164 53 0 0 0.000781405 0 0 NF1 4763 broad.mit.edu 37 17 29562966 29562966 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:29562966C>T uc002hgg.3 + 28 4284 c.3901C>T c.(3901-3903)Ctg>Ttg p.L1301L NF1_uc002hgh.3_Silent_p.L1301L|NF1_uc010csn.2_Silent_p.L1161L|NF1_uc002hgi.1_Silent_p.L334L NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 1301 Ras-GAP. MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ACAAAAACTCCTGGATCCTTT 0.378000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 81 34 0 0 0.000814825 0 0 LEPREL1 55214 broad.mit.edu 37 3 189688623 189688623 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:189688623C>T uc011bsk.2 - 12 2263 c.1875G>A c.(1873-1875)atG>atA p.M625I LEPREL1_uc003fsg.3_Missense_Mutation_p.M444I NM_018192 NP_001127890 Q8IVL5 P3H2_HUMAN Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA. 625 Fe2OG dioxygenase. 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) TCTTAGCATCCATCTCTGTGA 0.308000 49 10 0 0 0.00244969 0 0 DNAH17 8632 broad.mit.edu 37 17 76526534 76526534 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:76526534G>A uc010dhp.2 - 20 3300 c.3175C>T c.(3175-3177)Cac>Tac p.H1059Y NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGCCAGCCGTGGAACACCTTG 0.607000 100 23 0 0 0.000878237 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136320464 136320464 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:136320464C>T uc004cdv.4 + 24 3751 c.3307C>T c.(3307-3309)Cag>Tag p.Q1103* ADAMTS13_uc004cdp.4_Nonsense_Mutation_p.Q330*|ADAMTS13_uc004cdt.1_Nonsense_Mutation_p.Q1103*|ADAMTS13_uc004cdu.1_Nonsense_Mutation_p.Q1072*|ADAMTS13_uc004cdw.4_Nonsense_Mutation_p.Q1103*|ADAMTS13_uc004cdx.4_Nonsense_Mutation_p.Q1072*|ADAMTS13_uc004cdz.4_Nonsense_Mutation_p.Q773*|ADAMTS13_uc004cea.1_5'Flank|ADAMTS13_uc004ceb.4_5'Flank NM_139025 NP_620594 Q76LX8 ATS13_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA. 1103 TSP type-1 8. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CCTCGGACCCCAGGCCCAGGC 0.667000 148 41 0 0 0.00285205 0 0 TRIM36 55521 broad.mit.edu 37 5 114466515 114466515 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:114466515G>A uc003kqs.3 - 8 2115 c.1606C>T c.(1606-1608)Cgt>Tgt p.R536C TRIM36_uc011cwc.2_Missense_Mutation_p.R524C|TRIM36_uc003kqt.3_Missense_Mutation_p.R381C NM_018700 NP_061170 Q9NQ86 TRI36_HUMAN Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA. 536 B30.2/SPRY. acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) CTCTCTACACGGTCTCTCTTC 0.398000 31 41 0 0 0.00222228 0 0 OR2W5 441932 broad.mit.edu 37 1 247655219 247655219 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:247655219C>T uc001icz.2 + 0 850 c.790C>T c.(790-792)Caa>Taa p.Q264* NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA. 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TGAAGCCGGCCAACAGCTACT 0.522000 43 63 0 0 0.000781405 0 0 ADCK4 79934 broad.mit.edu 37 19 41208507 41208507 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:41208507G>A uc002oor.2 - 9 1193 c.891C>T c.(889-891)ttC>ttT p.F297F ADCK4_uc002oop.1_5'Flank|ADCK4_uc002ooq.2_Silent_p.F256F NM_024876 NP_079152 Q96D53 ADCK4_HUMAN Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA. 297 Protein kinase. integral to membrane protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1) 17 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) CAGCTCACCTGAAATTCTGGG 0.642000 83 24 0 0 0.000878237 0 0 ADAM28 10863 broad.mit.edu 37 8 24201093 24201093 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:24201093C>T uc003xdy.3 + 17 2069 c.1986C>T c.(1984-1986)gtC>gtT p.V662V ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.V349V NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 662 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) CCTCAGTGGTCTTCCGTAGGT 0.448000 11 7 0 0 0.00198382 0 0 SALL1 6299 broad.mit.edu 37 16 51171359 51171359 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:51171359G>A uc021tif.1 - 2 3670 c.3348C>T c.(3346-3348)ttC>ttT p.F1116F SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Silent_p.F65F NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 1213 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ACATTTCTGGGAACTTGACGG 0.567000 34 11 0 0 0.000673444 0 0 LRRC36 55282 broad.mit.edu 37 16 67381445 67381445 + Missense_Mutation SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:67381445T>A uc002esv.3 + 3 458 c.439T>A c.(439-441)Ttt>Att p.F147I LRRC36_uc002esw.3_Non-coding_Transcript|LRRC36_uc010ceh.3_Missense_Mutation_p.F26I|LRRC36_uc002esx.3_Missense_Mutation_p.F26I|LRRC36_uc010vjk.2_Missense_Mutation_p.F26I|LRRC36_uc010vjl.2_5'UTR NM_018296 NP_060766 Q1X8D7 LRC36_HUMAN Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA. 147 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) CAAGCTGCATTTTAGTCAGTT 0.378000 52 29 0 0 0.00178596 0 0 NCOA5 57727 broad.mit.edu 37 20 44691023 44691023 + Silent SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:44691023A>C uc002xrd.3 - 6 2184 c.1656T>G c.(1654-1656)ccT>ccG p.P552P NCOA5_uc002xrc.3_3'UTR|NCOA5_uc002xre.3_Silent_p.P552P NM_020967 NP_066018 Q9HCD5 NCOA5_HUMAN Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA. 552 Transcription activation. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus ATP binding|aminoacyl-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) GGGAGAGAGCAGGGCCACTCT 0.527000 34 12 0 0 0.00185496 0 0 PRX 57716 broad.mit.edu 37 19 40900623 40900623 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:40900623C>T uc002onr.3 - 6 3905 c.3636G>A c.(3634-3636)aaG>aaA p.K1212K PRX_uc002onq.3_Silent_p.K1073K|PRX_uc002ons.3_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN Homo sapiens periaxin (PRX), transcript variant 2, mRNA. 1212 Glu-rich (acidic). axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CGGTGGGCATCTTAAAGACAC 0.662000 63 22 0 0 0.00278032 0 0 BRSK1 84446 broad.mit.edu 37 19 55816264 55816264 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:55816264C>T uc002qkf.3 + 15 1868 c.1741C>T c.(1741-1743)Cgc>Tgc p.R581C BRSK1_uc002qkg.3_Missense_Mutation_p.R565C|BRSK1_uc002qkh.3_Missense_Mutation_p.R260C NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA. 565 G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) GGGCTCCCCTCGCTTTCACCG 0.647000 41 8 0 0 0.000442599 0 0 BARX2 8538 broad.mit.edu 37 11 129306851 129306851 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:129306851G>A uc001qfc.4 + 1 443 c.393G>A c.(391-393)aaG>aaA p.K131K NM_003658 NP_003649 Q9UMQ3 BARX2_HUMAN Homo sapiens BARX homeobox 2 (BARX2), mRNA. 131 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) CCCGACAGAAGAAGCCCCGCC 0.632000 6 7 0 0 0.00198382 0 0 OR5M8 219484 broad.mit.edu 37 11 56258650 56258650 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:56258650G>A uc001nix.1 - 0 197 c.197C>T c.(196-198)tCc>tTc p.S66F OR8U8_uc001nit.2_Intron NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA. 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) ATCCACGAAGGATAAGTGGCT 0.488000 33 21 0 0 0.00152264 0 0 TAAR1 134864 broad.mit.edu 37 6 132966382 132966382 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:132966382C>T uc003qdm.1 - 0 761 c.761G>A c.(760-762)gGg>gAg p.G254E NM_138327 NP_612200 Q96RJ0 TAAR1_HUMAN Homo sapiens trace amine associated receptor 1 (TAAR1), mRNA. 254 plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11) 18 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) CATCACAATCCCCAATGTCTT 0.378000 12 12 0 0 0.00136819 0 0 OR5L1 219437 broad.mit.edu 37 11 55579799 55579799 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:55579799A>G uc001nhw.1 + 0 857 c.857A>G c.(856-858)aAc>aGc p.N286S NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA. 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) CCTATGCTGAACTCTGTGATC 0.438000 11 11 0 0 0.00136819 0 0 CSRNP1 64651 broad.mit.edu 37 3 39185386 39185386 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:39185386C>T uc003cjg.3 - 4 1144 c.930G>A c.(928-930)agG>agA p.R310R CSRNP1_uc003cjh.3_Silent_p.R310R NM_033027 NP_149016 Q96S65 CSRN1_HUMAN Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA. 310 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3) 24 CCTCCAGCTCCCTAAAGCTCT 0.607000 23 22 0 0 0.00278032 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370431 35370431 + Missense_Mutation SNP T G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:35370431T>G uc001byc.3 - 0 554 c.554A>C c.(553-555)cAc>cCc p.H185P NM_001080418 NP_001073887 O95886 DLGP3_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA. 185 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) CTCCAGAGAGTGGGACTTGGC 0.667000 51 12 0 0 0.00244969 0 0 MOB3C 148932 broad.mit.edu 37 1 47080746 47080746 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:47080746C>T uc001cqe.4 - 0 60 c.3G>A c.(1-3)atG>atA p.M1I MKNK1_uc010omf.1_Intron|MOB3C_uc001cqf.4_Intron NM_145279 NP_958805 Q70IA8 MOL2C_HUMAN Homo sapiens MOB kinase activator 3C (MOB3C), transcript variant 1, mRNA. 0 metal ion binding TTCTGCGCTTCATTTGCCATC 0.527000 36 24 0 0 0.00047179 0 0 GLYATL1 92292 broad.mit.edu 37 11 58723084 58723084 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:58723084G>A uc001nnh.2 + 7 635 c.585_splice c.e7-1 p.S195_splice GLYATL1_uc001nnf.3_Splice_Site_p.S164_splice|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Splice_Site_p.S164_splice|GLYATL1_uc001nnj.2_Splice_Site_p.S164_splice NM_080661 NP_542392 Q969I3 GLYL1_HUMAN Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA. 164 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) TGTCTACAGTGAAACTCCCAA 0.428000 14 11 0 0 0.00136819 0 0 ACSS3 79611 broad.mit.edu 37 12 81545701 81545701 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:81545701G>A uc001szl.1 + 5 1091 c.1000G>A c.(1000-1002)Gag>Aag p.E334K ACSS3_uc001szm.1_Missense_Mutation_p.E333K|ACSS3_uc001szn.1_Missense_Mutation_p.E16K NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA. 334 mitochondrion ATP binding|acetate-CoA ligase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 TCAACCCGGAGAGGTAATCGT 0.388000 12 31 0 0 0.00178596 0 0 RBP3 5949 broad.mit.edu 37 10 48389662 48389662 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:48389662C>T uc001jez.3 - 0 1330 c.1216G>A c.(1216-1218)Gaa>Aaa p.E406K NM_002900 NP_002891 P10745 RET3_HUMAN Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA. 406 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity p.E406K(2) central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GGTGAGTCTTCGGCTGCAGCG 0.652000 59 11 0 0 0.00136819 0 0 CA8 767 broad.mit.edu 37 8 61135273 61135273 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:61135273G>A uc003xtz.1 - 6 921 c.673C>T c.(673-675)Cca>Tca p.P225S CA8_uc003xua.1_Missense_Mutation_p.P225S NM_004056 NP_004047 P35219 CAH8_HUMAN Homo sapiens carbonic anhydrase VIII (CA8), mRNA. 225 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1) 16 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) CTGCAAGGTGGGATGGTGAGA 0.458000 26 41 0 0 0.0025221 0 0 TRIO 7204 broad.mit.edu 37 5 14387901 14387901 + Silent SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:14387901C>A uc003jff.3 + 22 3832 c.3826C>A c.(3826-3828)Cga>Aga p.R1276R TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Silent_p.R1227R|TRIO_uc003jfh.1_Silent_p.R925R NM_007118 NP_009049 O75962 TRIO_HUMAN Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA. 1276 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GGTGAAACTTCGAGATGCTGC 0.433000 31 28 5.91797e-21 2.16595e-20 0.0024448 1 0 MOB3C 148932 broad.mit.edu 37 1 47080744 47080744 + Missense_Mutation SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:47080744T>C uc001cqe.4 - 0 62 c.5A>G c.(4-6)aAg>aGg p.K2R MKNK1_uc010omf.1_Intron|MOB3C_uc001cqf.4_Intron NM_145279 NP_958805 Q70IA8 MOL2C_HUMAN Homo sapiens MOB kinase activator 3C (MOB3C), transcript variant 1, mRNA. 0 metal ion binding ATTTCTGCGCTTCATTTGCCA 0.522000 35 23 0 0 0.00047179 0 0 CCDC65 85478 broad.mit.edu 37 12 49315121 49315121 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:49315121G>A uc001rso.3 + 7 1577 c.1350G>A c.(1348-1350)ctG>ctA p.L450L NM_033124 NP_149115 Q8IXS2 CCD65_HUMAN Homo sapiens coiled-coil domain containing 65 (CCDC65), mRNA. 450 breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2) 15 ACGAAGTGCTGAGCCAGCTCA 0.493000 42 24 0 0 0.00047179 0 0 SIGLEC6 946 broad.mit.edu 37 19 52033225 52033225 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:52033225G>A uc002pwy.3 - 4 973 c.765C>T c.(763-765)atC>atT p.I255I SIGLEC6_uc002pwz.3_Silent_p.I239I|SIGLEC6_uc010ydb.2_Silent_p.I203I|SIGLEC6_uc010ydc.2_Silent_p.I266I|SIGLEC6_uc002pxa.3_Silent_p.I255I|SIGLEC6_uc010eoz.2_Silent_p.I244I|SIGLEC6_uc010epa.2_Silent_p.I244I|SIGLEC6_uc010epb.2_Silent_p.I208I NM_001245 NP_001236 O43699 SIGL6_HUMAN Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA. 255 Ig-like C2-type 2. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) TGTTTTGCAGGATTTTGAAGG 0.592000 102 22 0 0 0.00047179 0 0 ODZ2 57451 broad.mit.edu 37 5 167420183 167420183 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:167420183C>T uc010jjd.3 + 4 1182 c.1182C>T c.(1180-1182)ttC>ttT p.F394F ODZ2_uc021yhi.1_Silent_p.F324F|ODZ2_uc003lzq.2_Silent_p.F273F|ODZ2_uc003lzr.4_Silent_p.F203F NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) TGGCGTATTTCATAGGTAAGT 0.532000 30 19 0 0 0.00121646 0 0 EXO1 9156 broad.mit.edu 37 1 242042534 242042534 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:242042534C>T uc021plj.1 + 10 2312 c.1998C>T c.(1996-1998)ccC>ccT p.P666P EXO1_uc001hzh.3_Silent_p.P666P|EXO1_uc009xgq.3_Silent_p.P665P|EXO1_uc021plk.1_Silent_p.P666P NM_006027 NP_569082 Q9UQ84 EXO1_HUMAN Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA. 666 Interaction with MSH2. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) AGTCTCATCCCTTACGAGAAG 0.468000 Editing and processing nucleases 63 20 0 0 0.00152264 0 0 LAX1 54900 broad.mit.edu 37 1 203743613 203743613 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:203743613G>A uc001haa.3 + 4 1411 c.1001G>A c.(1000-1002)tGt>tAt p.C334Y LAX1_uc010pql.2_Missense_Mutation_p.C318Y|LAX1_uc001hab.3_Missense_Mutation_p.C258Y NM_017773 NP_060243 Q8IWV1 LAX1_HUMAN Homo sapiens lymphocyte transmembrane adaptor 1 (LAX1), transcript variant 1, mRNA. 334 B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane SH2 domain binding|protein kinase binding central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) CATGTCCAATGTGTCAAAAGG 0.478000 99 53 0 0 0.000781405 0 0 DSC3 1825 broad.mit.edu 37 18 28588235 28588235 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:28588235C>T uc002kwj.4 - 10 1675 c.1520_splice c.e10+1 p.R507_splice DSC3_uc002kwi.4_Splice_Site_p.R507_splice NM_001941 NP_001932 Q14574 DSC3_HUMAN Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA. 507 Cadherin 4. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) TTATTTTTACCTTAAACCATT 0.318000 32 14 0 0 0.000422831 0 0 FBN3 84467 broad.mit.edu 37 19 8176551 8176551 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:8176551C>T uc002mjf.3 - 30 4082 c.4065G>A c.(4063-4065)ggG>ggA p.G1355G NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 1355 EGF-like 20; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 AGAAGCCATCCCCGGCAAAGC 0.632000 11 15 0 0 0.000422831 0 0 SHB 6461 broad.mit.edu 37 9 37919910 37919910 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:37919910C>T uc004aax.3 - 5 2006 c.1438G>A c.(1438-1440)Gaa>Aaa p.E480K NM_003028 NP_003019 Q15464 SHB_HUMAN Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA. 480 SH2. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) TGGATGACTTCCGGGACACTG 0.532000 29 45 0 0 0.00285205 0 0 GOLGA3 2802 broad.mit.edu 37 12 133353292 133353292 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:133353292G>A uc001ukz.1 - 20 4465 c.3906C>T c.(3904-3906)tcC>tcT p.S1302S GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Silent_p.S1302S NM_005895 NP_005886 Q08378 GOGA3_HUMAN Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA. 1302 Gln-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GCTGCTTCAAGGACTGGATTT 0.502000 67 24 0 0 0.00229938 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24979684 24979684 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:24979684G>A uc002dnb.3 - 5 542 c.449C>T c.(448-450)tCa>tTa p.S150L ARHGAP17_uc002dnc.3_Missense_Mutation_p.S150L|ARHGAP17_uc010vcf.2_5'UTR|ARHGAP17_uc002dng.1_Missense_Mutation_p.S150L NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA. 150 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) GGCTCTGACTGAATCCCAGTC 0.493000 50 25 0 0 0.00178596 0 0 C17orf101 79701 broad.mit.edu 37 17 80373320 80373320 + Silent SNP G A A rs145904574 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:80373320G>A uc002ket.2 - 1 410 c.258C>T c.(256-258)atC>atT p.I86I C17orf101_uc010dip.2_Non-coding_Transcript|C17orf101_uc002keu.2_Silent_p.I86I|HEXDC_uc002kev.4_5'Flank NM_175902 NP_787098 Q6PK18 CQ101_HUMAN Homo sapiens chromosome 17 open reading frame 101 (C17orf101), transcript variant 2, mRNA. 86 integral to membrane L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 14 AGGGCACCTCGATGAATCTCC 0.582000 155 52 0 0 0.000781405 0 0 SYNJ1 8867 broad.mit.edu 37 21 34053931 34053931 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:34053931C>T uc002yqh.2 - 10 1345 c.1345G>A c.(1345-1347)Ggt>Agt p.G449S SYNJ1_uc011ads.1_Missense_Mutation_p.G410S|SYNJ1_uc002yqf.2_Missense_Mutation_p.G410S|SYNJ1_uc002yqg.2_Missense_Mutation_p.G410S|SYNJ1_uc002yqi.2_Missense_Mutation_p.G449S NM_003895 NP_003886 O43426 SYNJ1_HUMAN Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA. 410 RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 TCAGCTAAACCAAGAGCTTCC 0.343000 52 15 0 0 0.000308642 0 0 RBM38 55544 broad.mit.edu 37 20 55982684 55982684 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:55982684C>T uc010zzj.2 + 3 686 c.502C>T c.(502-504)Ccc>Tcc p.P168S MIR5095_uc021wfc.1_Intron|RBM38_uc010zzk.2_3'UTR NM_017495 NP_059965 Q9H0Z9 RBM38_HUMAN Homo sapiens RNA binding motif protein 38 (RBM38), transcript variant 1, mRNA. 168 3'-UTR-mediated mRNA stabilization|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 transcription of p21 class mediator|RNA splicing|cell cycle|cell cycle arrest|cell differentiation|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing cytosol|nucleus RNA binding|mRNA 3'-UTR binding|mRNA binding|nucleotide binding large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08) GCTGTCCTCGCCCTACATTGA 0.682000 36 12 0 0 0.00185496 0 0 HMGCS2 3158 broad.mit.edu 37 1 120298101 120298102 + Missense_Mutation DNP CC AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:120298101_120298102CC>AA uc001eid.3 - 5 1223_1224 c.1135_1136GG>TT c.(1135-1137)ggg>TTg p.G379L HMGCS2_uc010oxj.2_Missense_Mutation_p.G337L|HMGCS2_uc021osw.1_Missense_Mutation_p.G145L NM_005518 NP_005509 P54868 HMCS2_HUMAN Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 379 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity p.G379V(2) NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) GTACATGTTCCCATTGTGAGTG 0.535000 845 14 0 0 6.4e-05 0 0 TNK2 10188 broad.mit.edu 37 3 195615303 195615303 + Missense_Mutation SNP G A A rs142416449 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:195615303G>A uc003fvu.1 - 1 700 c.157C>T c.(157-159)Cgg>Tgg p.R53W TNK2_uc003fvs.1_Missense_Mutation_p.R85W|TNK2_uc003fvt.1_Missense_Mutation_p.R116W|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_5'Flank|TNK2_uc010hzx.1_Missense_Mutation_p.R67W NM_005781 NP_005772 Q07912 ACK1_HUMAN Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA. 53 SAM-like domain. positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CTACCAGGCCGACCCATGCCG 0.597000 43 17 0 0 0.00074312 0 0 FAM183A 440585 broad.mit.edu 37 1 43621918 43621918 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:43621918G>A uc009vwo.3 + 3 368 c.339G>A c.(337-339)agG>agA p.R113R NM_001101376 NP_001094846 A6NL82 F183A_HUMAN Homo sapiens family with sequence similarity 183, member A (FAM183A), mRNA. 113 kidney(1)|large_intestine(1)|lung(2)|ovary(3) 7 ATCACTTCAGGGTCTGCAGTG 0.512000 99 20 0 0 0.00047179 0 0 DNAH5 1767 broad.mit.edu 37 5 13718991 13718991 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:13718991C>T uc003jfd.2 - 72 12541 c.12499_splice c.e72+1 p.G4167_splice DNAH5_uc003jfc.2_Splice_Site_p.G335_splice NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 4167 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTGGACTCACCACTATATGTT 0.388000 Kartagener syndrome 44 11 0 0 0.000978159 0 0 CACNA1G 8913 broad.mit.edu 37 17 48646309 48646309 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:48646309C>T uc002irk.1 + 1 693 c.321C>T c.(319-321)atC>atT p.I107I CACNA1G_uc002iri.1_Silent_p.I107I|CACNA1G_uc002irj.1_Silent_p.I107I|CACNA1G_uc002irl.1_Silent_p.I107I|CACNA1G_uc002irm.1_Silent_p.I107I|CACNA1G_uc002irn.1_Silent_p.I107I|CACNA1G_uc002iro.1_Silent_p.I107I|CACNA1G_uc002irp.1_Silent_p.I107I|CACNA1G_uc002irq.1_Silent_p.I107I|CACNA1G_uc002irr.1_Silent_p.I107I|CACNA1G_uc002irs.1_Silent_p.I107I|CACNA1G_uc002irt.1_Silent_p.I107I|CACNA1G_uc002iru.1_Silent_p.I107I|CACNA1G_uc002irv.1_Silent_p.I107I|CACNA1G_uc002irw.1_Silent_p.I107I|CACNA1G_uc002irx.1_Silent_p.I20I|CACNA1G_uc002iry.1_Silent_p.I20I|CACNA1G_uc002isg.1_Silent_p.I20I|CACNA1G_uc002ish.1_Silent_p.I20I|CACNA1G_uc002isi.1_Silent_p.I20I|CACNA1G_uc002irz.1_Silent_p.I20I|CACNA1G_uc002isa.1_Silent_p.I20I|CACNA1G_uc002isd.1_Silent_p.I20I|CACNA1G_uc002isb.1_Silent_p.I20I|CACNA1G_uc002isc.1_Silent_p.I20I|CACNA1G_uc002ise.1_Silent_p.I20I|CACNA1G_uc002isf.1_Silent_p.I20I NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 107 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity p.I107I(3) breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GCGAGGACATCGCCTGTGACT 0.562000 15 23 0 0 0.00047179 0 0 FRMD5 84978 broad.mit.edu 37 15 44180422 44180422 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:44180422C>T uc001ztl.3 - 9 1012 c.835G>A c.(835-837)Gcg>Acg p.A279T FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Missense_Mutation_p.A185T|FRMD5_uc010uef.2_5'Flank|FRMD5_uc001ztm.3_5'UTR|FRMD5_uc001ztn.3_Missense_Mutation_p.A45T NM_032892 NP_116281 Q7Z6J6 FRMD5_HUMAN Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA. 279 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) TGCTTACACGCTTCAGGAGTT 0.428000 10 26 0 0 0.00127121 0 0 ELN 2006 broad.mit.edu 37 7 73483003 73483003 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:73483003G>A uc003tzw.3 + 32 2257 c.2166G>A c.(2164-2166)ggG>ggA p.G722G ELN_uc003tzn.3_Silent_p.G716G|ELN_uc003tzy.3_Silent_p.G692G|ELN_uc003tzz.3_Silent_p.G635G|ELN_uc003tzo.3_Silent_p.G650G|ELN_uc003tzp.3_Silent_p.G609G|ELN_uc003tzq.3_Silent_p.G562G|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Silent_p.G697G|ELN_uc003tzt.3_Silent_p.G703G|ELN_uc003tzu.3_Silent_p.G684G|ELN_uc003tzv.3_Silent_p.G669G|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Silent_p.G706G|ELN_uc011kff.2_Silent_p.G698G NM_000501 NP_001075224 P15502 ELN_HUMAN Homo sapiens elastin (ELN), transcript variant 1, mRNA. 778 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) CCTGCCTGGGGAAAGCTTGTG 0.577000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 68 19 0 0 0.00188189 0 0 CNTN5 53942 broad.mit.edu 37 11 100211914 100211914 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:100211914G>A uc001pga.3 + 22 3511 c.3007G>A c.(3007-3009)Gaa>Aaa p.E1003K CNTN5_uc021qpb.1_Missense_Mutation_p.E1003K|CNTN5_uc021qpc.1_Missense_Mutation_p.E929K|CNTN5_uc010ruk.2_Missense_Mutation_p.E274K NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 1003 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) ATTAGCCAACGAATCTGAAGT 0.433000 41 22 0 0 0.00278032 0 0 CLCC1 23155 broad.mit.edu 37 1 109479864 109479865 + Missense_Mutation DNP GG TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:109479864_109479865GG>TT uc021ora.1 - 8 1228_1229 c.1217_1218CC>AA c.(1216-1218)ccc>cAA p.P406Q AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Missense_Mutation_p.P356Q|CLCC1_uc001dwf.1_Missense_Mutation_p.P406Q|CLCC1_uc009wes.1_Missense_Mutation_p.P285Q|CLCC1_uc009wet.1_Missense_Mutation_p.P221Q NM_001048210 NP_001041675 Q96S66 CLCC1_HUMAN Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA. 406 Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1) 14 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231) CTTGCTCAGTGGGGCCCATTTG 0.500000 863 14 0 0 6.4e-05 0 0 FCAMR 83953 broad.mit.edu 37 1 207133109 207133109 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:207133109G>A uc001hfa.4 - 6 1988 c.1488C>T c.(1486-1488)acC>acT p.T496T FCAMR_uc001hfb.3_Missense_Mutation_p.P229L|FCAMR_uc009xca.2_Missense_Mutation_p.P229L NM_001170631 NP_001164102 Q8WWV6 FCAMR_HUMAN Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA. 451 integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1) 11 CAGGAGCCAGGGTCCGAGAGC 0.517000 190 43 0 0 0.000781405 0 0 TAT 6898 broad.mit.edu 37 16 71602167 71602167 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:71602167G>A uc002fap.2 - 11 1344 c.1245C>T c.(1243-1245)ttC>ttT p.F415F NM_000353 NP_000344 P17735 ATTY_HUMAN Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA. 415 2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) CCACTCGGATGAAATTCGGGT 0.522000 37 17 0 0 0.000566183 0 0 POU2F3 25833 broad.mit.edu 37 11 120175796 120175796 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:120175796C>T uc021qrk.1 + 6 542 c.508C>T c.(508-510)Cag>Tag p.Q170* POU2F3_uc001pxc.3_Nonsense_Mutation_p.Q168*|POU2F3_uc010rzk.2_Nonsense_Mutation_p.Q122*|POU2F3_uc010rzl.2_Nonsense_Mutation_p.Q98*|POU2F3_uc001pxe.1_5'Flank NM_001244682 NP_001231611 Q9UKI9 PO2F3_HUMAN Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA. 168 negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) GGAAGCATCCCAGCATCTCCC 0.567000 41 21 0 0 0.00152264 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119938786 119938786 + Missense_Mutation SNP T G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:119938786T>G uc003yon.4 - 3 1087 c.764A>C c.(763-765)aAg>aCg p.K255T TNFRSF11B_uc010mdc.1_Non-coding_Transcript NM_002546 NP_002537 O00300 TR11B_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA. 255 Death 1. apoptosis|skeletal system development cytokine activity|receptor activity breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1) 25 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) TTTCCATAACTTCAGCAGCTG 0.383000 126 29 0 0 0.00058488 0 0 PASK 23178 broad.mit.edu 37 2 242051780 242051780 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:242051780G>A uc002wao.2 - 14 3541 c.3408C>T c.(3406-3408)atC>atT p.I1136I PASK_uc010zol.2_Silent_p.I950I|PASK_uc010zom.2_Silent_p.I1101I|PASK_uc010fzl.2_Silent_p.I1143I|PASK_uc010zon.2_Silent_p.I917I|PASK_uc021vzf.1_Silent_p.I1136I NM_015148 NP_055963 Q96RG2 PASK_HUMAN Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA. 1136 Protein kinase. regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|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;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) AGTCCTCGGCGATCACGATGT 0.502000 32 24 0 0 0.00106085 0 0 PTGS2 5743 broad.mit.edu 37 1 186645797 186645797 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:186645797C>T uc001gsb.3 - 6 909 c.772G>A c.(772-774)Gag>Aag p.E258K PTGS2_uc009wyo.3_Missense_Mutation_p.E105K NM_000963 NP_000954 P35354 PGH2_HUMAN Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA. 258 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154) TAGATCATCTCTGCCTGAGTA 0.413000 38 7 0 0 0.00198382 0 0 ACAN 176 broad.mit.edu 37 15 89400846 89400846 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:89400846A>G uc010upo.1 + 11 5404 c.5030A>G c.(5029-5031)gAa>gGa p.E1677G ACAN_uc010upp.1_Missense_Mutation_p.E1677G|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 1677 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) ACTGCAAGTGAACTGGAAGGG 0.527000 74 33 0 0 0.00283554 0 0 CDR1 1038 broad.mit.edu 37 X 139866342 139866342 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:139866342G>A uc004fbg.1 - 0 382 c.190C>T c.(190-192)Ctg>Ttg p.L64L AK054921_uc004fbf.1_Non-coding_Transcript NM_004065 NP_004056 P51861 CDR1_HUMAN Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA. 64 23 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) AGGTCTTCCAGGAAATCCGTG 0.443000 5 55 0 0 0.000781405 0 0 TMEM38A 79041 broad.mit.edu 37 19 16799065 16799065 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:16799065C>T uc002nes.3 + 5 874 c.783C>T c.(781-783)aaC>aaT p.N261N NM_024074 NP_076979 Q9H6F2 TM38A_HUMAN Homo sapiens transmembrane protein 38A (TMEM38A), mRNA. 261 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1) 15 ACCACGACAACCATGGTGGGT 0.637000 91 33 0 0 0.00178596 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T A A rs11554290 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:115256529T>A uc009wgu.3 - 2 436 c.182A>T c.(181-183)cAa>cTa p.Q61L 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.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(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) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 93 202 0 0 0.000781405 0 0 DLG5 9231 broad.mit.edu 37 10 79603373 79603373 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:79603373G>A uc001jzk.3 - 5 1026 c.956C>T c.(955-957)gCc>gTc p.A319V DLG5_uc001jzj.3_Missense_Mutation_p.A74V|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_5'Flank NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA. 319 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CTTCCGAAGGGCGTCATAGTC 0.552000 42 34 0 0 0.000953801 0 0 SLC25A2 83884 broad.mit.edu 37 5 140682655 140682655 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:140682655C>T uc003ljf.3 - 0 958 c.778G>A c.(778-780)Gaa>Aaa p.E260K NM_031947 NP_114153 Q9BXI2 ORNT2_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA. 260 mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) ACTATTCCTTCATTTCTCACA 0.423000 31 10 0 0 0.000442599 0 0 UGT3A1 133688 broad.mit.edu 37 5 35957327 35957327 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:35957327C>T uc003jjv.2 - 4 1231 c.1038G>A c.(1036-1038)gtG>gtA p.V346V UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Silent_p.V346V|UGT3A1_uc011cor.2_Silent_p.V312V NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA. 346 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCACAATTTTCACATTTGTGG 0.488000 28 12 0 0 0.00244969 0 0 ZNF582 147948 broad.mit.edu 37 19 56896082 56896082 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:56896082G>A uc002qmy.3 - 4 1090 c.797C>T c.(796-798)gCc>gTc p.A266V ZNF582_uc002qmz.1_Missense_Mutation_p.A235V NM_144690 NP_653291 Q96NG8 ZN582_HUMAN Homo sapiens zinc finger protein 582 (ZNF582), mRNA. 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) AGAATTGAAGGCCTTTCCACA 0.373000 49 18 0 0 0.000958276 0 0 COL16A1 1307 broad.mit.edu 37 1 32164197 32164197 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:32164197G>A uc001btk.1 - 4 642 c.277C>T c.(277-279)Cct>Tct p.P93S COL16A1_uc001btj.1_5'UTR|COL16A1_uc001btl.4_Missense_Mutation_p.P93S NM_001856 NP_001847 Q07092 COGA1_HUMAN Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA. 93 TSP N-terminal. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) AGACCCCGAGGGAATACTCTT 0.572000 42 13 0 0 0.00185496 0 0 VSX2 338917 broad.mit.edu 37 14 74727351 74727351 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:74727351G>A uc001xpq.3 + 4 905 c.815G>A c.(814-816)gGg>gAg p.G272E NM_182894 NP_878314 P58304 VSX2_HUMAN Homo sapiens visual system homeobox 2 (VSX2), mRNA. 272 multicellular organismal development|response to stimulus|visual perception nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 BRCA - Breast invasive adenocarcinoma(234;0.00154) AAGCCCGAGGGGGAACGCCAG 0.612000 22 10 0 0 0.000978159 0 0 CSHL1 1444 broad.mit.edu 37 17 61987521 61987521 + Splice_Site SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:61987521C>T uc002jda.1 - 4 533 c.471_splice c.e4+1 p.G157_splice CSHL1_uc002jcz.1_Splice_Site_p.G134_splice|CSHL1_uc002jdb.1_Splice_Site_p.G63_splice|CSHL1_uc002jdc.1_Splice_Site_p.G74_splice|CSHL1_uc002jdd.1_Splice_Site_p.G95_splice|CSHL1_uc021ubn.1_3'UTR NM_022579 NP_001309 Q14406 CSHL_HUMAN Homo sapiens chorionic somatomammotropin hormone-like 1 (CSHL1), transcript variant 1, mRNA. 157 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 GCCACCCTCACCCCCATCAGC 0.577000 80 18 0 0 0.000958276 0 0 GRIK3 2899 broad.mit.edu 37 1 37270690 37270690 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:37270690G>A uc001caz.2 - 14 2598 c.2463C>T c.(2461-2463)atC>atT p.I821I GRIK3_uc001cba.1_Silent_p.I821I NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 821 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) AGATGCCCCCGATCTTCTGGA 0.597000 104 32 0 0 0.000692331 0 0 TMEM214 54867 broad.mit.edu 37 2 27258879 27258879 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:27258879C>T uc002ria.4 + 4 789 c.679C>T c.(679-681)Ctg>Ttg p.L227L TMEM214_uc002rib.4_Silent_p.L182L NM_017727 NP_060197 Q6NUQ4 TM214_HUMAN Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA. 227 integral to membrane protein binding kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 CCAGGCCATCCTGCAAGACAA 0.522000 41 16 0 0 0.00074312 0 0 MIP 4284 broad.mit.edu 37 12 56848292 56848292 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:56848292G>A uc001slh.3 - 0 144 c.106C>T c.(106-108)Cct>Tct p.P36S NM_012064 NP_036196 P30301 MIP_HUMAN Homo sapiens major intrinsic protein of lens fiber (MIP), mRNA. 36 response to stimulus|visual perception gap junction|integral to plasma membrane structural constituent of eye lens kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 16 AGGGGTCCAGGAGCCCAGCGC 0.582000 50 22 0 0 0.00047179 0 0 UGT3A2 167127 broad.mit.edu 37 5 36039788 36039788 + Missense_Mutation SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:36039788T>C uc003jjz.2 - 4 998 c.866A>G c.(865-867)aAg>aGg p.K289R UGT3A2_uc011cos.2_Missense_Mutation_p.K255R|UGT3A2_uc011cot.2_5'UTR NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA. 289 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTCCCCAAACTTGGCAATGAA 0.448000 37 11 0 0 0.00136819 0 0 FAM58BP 339521 broad.mit.edu 37 1 200183155 200183155 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:200183155C>T uc009wzi.1 + 0 500 c.464C>T c.(463-465)tCc>tTc p.S155F NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA. 155 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding lung(1) 1 TACCTGGTTTCCCTCAAGAAC 0.617000 38 43 0 0 0.000781405 0 0 SLC38A7 55238 broad.mit.edu 37 16 58701363 58701364 + Missense_Mutation DNP GG AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:58701363_58701364GG>AA uc002eod.1 - 11 1707_1708 c.1314_1315CC>TT c.(1312-1317)gtcctc>gtTTtc p.L439F SLC38A7_uc002eoc.1_Missense_Mutation_p.S304F|SLC38A7_uc010vil.1_Missense_Mutation_p.L350F NM_018231 NP_060701 Q9NVC3 S38A7_HUMAN Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA. 439 amino acid transport|sodium ion transport integral to membrane endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 13 GTGACCAAGAGGACTCCGTAGC 0.535000 39 11 0 0 6.4e-05 0 0 TNFRSF10D 8793 broad.mit.edu 37 8 23003225 23003225 + Missense_Mutation SNP G A A rs115978162 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:23003225G>A uc003xcz.1 - 4 784 c.692C>T c.(691-693)tCa>tTa p.S231L NM_003840 NP_003831 Q9UBN6 TR10D_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain (TNFRSF10D), mRNA. 231 anti-apoptosis|apoptosis integral to membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) CTTCCGACATGAAAAGCCAAC 0.512000 20 15 0 0 0.000308642 0 0 SHOX2 6474 broad.mit.edu 37 3 157816015 157816015 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:157816015G>A uc003fbs.3 - 5 1008 c.869C>T c.(868-870)cCg>cTg p.P290L SHOX2_uc003fbr.3_Missense_Mutation_p.P266L|SHOX2_uc010hvw.3_Missense_Mutation_p.P254L NM_003030 NP_003021 O60902 SHOX2_HUMAN Homo sapiens short stature homeobox 2 (SHOX2), transcript variant 1, mRNA. 266 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1) 20 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) GGCCAGGTGCGGATGCAGGTG 0.672000 63 36 0 0 0.00283554 0 0 RSPH10B 222967 broad.mit.edu 37 7 5983093 5983093 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:5983093G>A uc021zze.1 - 5 760 c.625C>T c.(625-627)Ccg>Tcg p.P209S RSPH10B_uc003spg.1_Silent_p.F387F|RSPH10B_uc003sph.1_Silent_p.F540F|RSPH10B_uc010ktd.1_Silent_p.F540F|RSPH10B_uc011jwk.2_Silent_p.F241F B2RC85 R10B2_HUMAN Homo sapiens radial spoke head 10 homolog B2 (Chlamydomonas) (RSPH10B2), mRNA. 514 breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4) 11 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0974) GTTGCTCACGGAATAAATTGC 0.388000 97 10 0 0 0.00188189 0 0 DUSP10 11221 broad.mit.edu 37 1 221913007 221913008 + Missense_Mutation DNP AA CC CC TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:221913007_221913008AA>CC uc001hmy.2 - 1 316_317 c.79_80TT>GG c.(79-81)tta>GGa p.L27G DUSP10_uc001hmx.2_5'Flank|DUSP10_uc001hmz.2_Intron NM_007207 NP_009138 Q9Y6W6 DUS10_HUMAN Homo sapiens dual specificity phosphatase 10 (DUSP10), transcript variant 1, mRNA. 27 JNK cascade|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(131;0.0103) ACTAGAGTCTAAACAAAGGTTG 0.540000 148 31 0 0 6.4e-05 0 0 RABL3 285282 broad.mit.edu 37 3 120449619 120449619 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:120449619G>A uc003edx.3 - 1 92 c.62C>T c.(61-63)tCg>tTg p.S21L NM_173825 NP_776186 Q5HYI8 RABL3_HUMAN Homo sapiens RAB, member of RAS oncogene family-like 3 (RABL3), mRNA. 21 Small GTPase-like. small GTPase mediated signal transduction GTP binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10) 17 GBM - Glioblastoma multiforme(114;0.151) ATGGACTAACGAAGATTTCCC 0.398000 50 12 0 0 0.00244969 0 0 NLRP4 147945 broad.mit.edu 37 19 56370415 56370415 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:56370415G>A uc002qmd.4 + 2 2078 c.1656G>A c.(1654-1656)gcG>gcA p.A552A NLRP4_uc002qmf.3_Silent_p.A477A|NLRP4_uc010etf.3_Silent_p.A383A NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 552 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ATTCCTTGGCGATATTTTACT 0.473000 36 46 0 0 0.00222228 0 0 SEMA6C 10500 broad.mit.edu 37 1 151110192 151110192 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:151110192C>T uc001ewv.3 - 9 1087 c.751G>A c.(751-753)Ggg>Agg p.G251R SEMA6C_uc001ewu.3_Missense_Mutation_p.G251R|SEMA6C_uc001eww.3_Missense_Mutation_p.G211R|SEMA6C_uc009wml.2_Non-coding_Transcript NM_001178061 NP_001171532 Q9H3T2 SEM6C_HUMAN Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA. 251 Sema. integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CTTACCCTCCCCAGCCGAGCA 0.572000 92 41 0 0 0.000781405 0 0 OR5P2 120065 broad.mit.edu 37 11 7817964 7817964 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:7817964C>T uc001mfp.1 - 0 526 c.526G>A c.(526-528)Gat>Aat p.D176N NM_153444 NP_703145 Q8WZ92 OR5P2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA. 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GGAGCGAAATCACAGAAAAAA 0.388000 17 6 0 0 0.00116845 0 0 DNAH11 8701 broad.mit.edu 37 7 21920455 21920455 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:21920455G>A uc003svc.3 + 75 12383 c.12352G>A c.(12352-12354)Gga>Aga p.G4118R NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 4118 AAA 6 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TTTTAATCCTGGAGACCTCAC 0.468000 Kartagener syndrome 59 14 0 0 0.000308642 0 0 YSK4 80122 broad.mit.edu 37 2 135745570 135745570 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:135745570G>A uc002tue.1 - 6 903 c.872C>T c.(871-873)tCt>tTt p.S291F YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.S178F|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.S19F|YSK4_uc002tui.4_Missense_Mutation_p.S308F NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA. 291 ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(221;0.112) CTTAGGAAAAGAGCACATGTT 0.443000 108 25 0 0 0.00106085 0 0 DCTN4 51164 broad.mit.edu 37 5 150102495 150102495 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:150102495G>A uc010jhi.3 - 9 1005 c.903C>T c.(901-903)atC>atT p.I301I DCTN4_uc003lsu.3_Silent_p.I237I|DCTN4_uc003lsv.3_Silent_p.I294I NM_001135643 NP_001129115 Q9UJW0 DCTN4_HUMAN Homo sapiens dynactin 4 (p62) (DCTN4), transcript variant 1, mRNA. 294 centrosome|nucleus protein N-terminus binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 10 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTTTGAATTTGATTGACGTTG 0.338000 5 17 0 0 0.00152264 0 0 NBPF1 55672 broad.mit.edu 37 1 16907242 16907243 + Missense_Mutation DNP GG TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:16907242_16907243GG>TT uc009vos.1 - 15 2476_2477 c.1588_1589CC>AA c.(1588-1590)cca>AAa p.P530K NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Missense_Mutation_p.P259K NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. 530 NBPF 2. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GAGGCTACCTGGGAGAATGTTT 0.421000 762 12 0 0 6.4e-05 0 0 EFHD2 79180 broad.mit.edu 37 1 15752446 15752446 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:15752446C>T uc001awh.2 + 1 465 c.388C>T c.(388-390)Cac>Tac p.H130Y NM_024329 NP_077305 Q96C19 EFHD2_HUMAN Homo sapiens EF-hand domain family, member D2 (EFHD2), mRNA. 130 EF-hand 2. membrane raft large_intestine(1)|skin(1) 2 Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) CCCTCAGACCCACCTGGGCCT 0.577000 87 28 0 0 0.000878237 0 0 ROS1 6098 broad.mit.edu 37 6 117725504 117725504 + Missense_Mutation SNP C T T rs34245787 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:117725504C>T uc003pxp.1 - 4 576 c.377G>A c.(376-378)gGa>gAa p.G126E ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 126 Fibronectin type-III 1. G -> V (in dbSNP:rs34245787). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GTATTTTACTCCAGAGAAGTT 0.428000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 20 25 0 0 0.00278032 0 0 BAIAP2L2 80115 broad.mit.edu 37 22 38483273 38483273 + Splice_Site SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:38483273T>A uc003auw.3 - 11 1263 c.1119_splice c.e11-1 p.A373_splice BAIAP2L2_uc003auv.3_5'Flank NM_025045 NP_079321 Q6UXY1 BI2L2_HUMAN Homo sapiens BAI1-associated protein 2-like 2 (BAIAP2L2), mRNA. 373 SH3. filopodium assembly|signal transduction SH3 domain binding|cytoskeletal adaptor activity large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 8 Melanoma(58;0.045) CAACCGCTCCTGTGGGGTAGA 0.592000 69 39 0 0 0.00222228 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766203 27766203 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:27766203G>A uc011mjy.2 + 0 1278 c.1191G>A c.(1189-1191)agG>agA p.R397R NM_001136533 NP_001130005 Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA. central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 ATGACCAGAGGAAAATTGATA 0.393000 0 34 0 0 0.000692331 0 0 CYP2C9 1559 broad.mit.edu 37 10 96707649 96707649 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:96707649G>A uc001kka.4 + 3 620 c.595G>A c.(595-597)Gaa>Aaa p.E199K CYP2C9_uc009xut.3_Missense_Mutation_p.E199K NM_000771 NP_000762 P11712 CP2C9_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA. 199 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TAACTTAATGGAAAAGTTGAA 0.383000 11 11 0 0 0.000673444 0 0 ITGA11 22801 broad.mit.edu 37 15 68642958 68642958 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:68642958C>T uc010bib.3 - 8 1144 c.1057G>A c.(1057-1059)Gaa>Aaa p.E353K ITGA11_uc002ari.3_Missense_Mutation_p.E353K NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN Homo sapiens integrin, alpha 11 (ITGA11), mRNA. 353 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity p.E353D(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) TGCTTACCTTCCAGGCTGAAG 0.507000 13 27 0 0 0.00106085 0 0 SLC17A2 10246 broad.mit.edu 37 6 25916919 25916919 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:25916919G>A uc011dkb.2 - 6 1007 c.924C>T c.(922-924)atC>atT p.I308I SLC17A2_uc011dkc.2_Silent_p.I308I|SLC17A2_uc003nfl.3_Silent_p.I308I O00624 NPT3_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA. 308 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 TCACATCTCTGATGTTAACAT 0.378000 68 21 0 0 0.00047179 0 0 XIRP1 165904 broad.mit.edu 37 3 39225952 39225952 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:39225952G>A uc003cjk.2 - 1 5214 c.4985C>T c.(4984-4986)tCc>tTc p.S1662F XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.S345F|XIRP1_uc021wvz.1_Missense_Mutation_p.S1662F NM_194293 NP_919269 Q702N8 XIRP1_HUMAN Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA. 1662 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) ATCTCGGCTGGAAGGTAAAAC 0.542000 99 32 0 0 0.00283554 0 0 LYNX1 66004 broad.mit.edu 37 8 143857012 143857012 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:143857012G>A uc003yxc.1 - 3 424 c.154_splice c.e3+1 p.Y52_splice LYNX1_uc003yxb.3_Splice_Site_p.S52_splice|LYNX1_uc003yxd.1_Splice_Site_p.Y52_splice|LYNX1_uc003yxe.1_Splice_Site_p.Y52_splice NM_177476 NP_803430 Q86SR0 SLUR2_HUMAN Homo sapiens Ly6/neurotoxin 1 (LYNX1), transcript variant 4, mRNA. 53 UPAR/Ly6. extracellular region endometrium(1)|lung(2)|skin(1) 4 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CAGACTCACAGGTGCGCGTGG 0.662000 5 8 0 0 0.000157383 0 0 SGK223 157285 broad.mit.edu 37 8 8234125 8234125 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:8234125C>T uc003wsh.4 - 1 1794 c.1794G>A c.(1792-1794)cgG>cgA p.R598R NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA. 598 ATP binding|non-membrane spanning protein tyrosine kinase activity CACCGTTGGTCCGGCAGGAAG 0.662000 16 40 0 0 0.000781405 0 0 CACNA1B 774 broad.mit.edu 37 9 140943685 140943685 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:140943685C>T uc004cog.3 + 23 3773 c.3628C>T c.(3628-3630)Cac>Tac p.H1210Y CACNA1B_uc022bqn.1_Missense_Mutation_p.H1210Y|CACNA1B_uc011mfd.2_Missense_Mutation_p.H811Y|CACNA1B_uc004coi.3_Missense_Mutation_p.H420Y NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 1210 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) ACTGCTGCTTCACCCTGGAGC 0.527000 76 17 0 0 0.00278032 0 0 SSH3 54961 broad.mit.edu 37 11 67077398 67077398 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:67077398C>T uc001okj.3 + 11 1546 c.1368C>T c.(1366-1368)ttC>ttT p.F456F SSH3_uc001okk.3_Non-coding_Transcript|SSH3_uc001okl.3_Silent_p.F310F NM_017857 NP_060327 Q8TE77 SSH3_HUMAN Homo sapiens slingshot homolog 3 (Drosophila) (SSH3), mRNA. 456 Tyrosine-protein phosphatase. regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) ACCCTGGCTTCCTGCGCCAGC 0.662000 21 18 0 0 0.000566183 0 0 TTN 7273 broad.mit.edu 37 2 179597365 179597365 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:179597365C>T uc021vsy.1 - 52 12916 c.12691G>A c.(12691-12693)Gga>Aga p.G4231R TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G892R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 5158 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) GGAGTAGATCCTTGGAAAGTG 0.463000 15 4 0 0 0.00024832 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30881844 30881844 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:30881844G>A uc001rji.1 - 7 2271 c.1520C>T c.(1519-1521)cCa>cTa p.P507L CAPRIN2_uc001rjf.1_Missense_Mutation_p.P304L|CAPRIN2_uc001rjg.1_Missense_Mutation_p.P174L|CAPRIN2_uc001rjh.1_Missense_Mutation_p.P507L|CAPRIN2_uc001rjk.4_Missense_Mutation_p.P507L|CAPRIN2_uc001rjj.1_Missense_Mutation_p.P174L|CAPRIN2_uc001rjl.4_Missense_Mutation_p.P507L|CAPRIN2_uc001rjm.1_Missense_Mutation_p.P174L|CAPRIN2_uc001rjn.1_Missense_Mutation_p.P174L NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA. 507 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) TTGCTTCTTTGGATCTTGTTC 0.453000 30 47 0 0 0.0025221 0 0 RYR1 6261 broad.mit.edu 37 19 39062679 39062679 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:39062679G>A uc002oit.3 + 94 13897 c.13767G>A c.(13765-13767)ggG>ggA p.G4589G RYR1_uc002oiu.3_Silent_p.G4584G NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 4589 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTCCACCAGGGGAGGACGACA 0.607000 79 24 0 0 0.00127121 0 0 ATP1A2 477 broad.mit.edu 37 1 160105660 160105660 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:160105660C>T uc001fvc.3 + 16 2448 c.2316C>T c.(2314-2316)tcC>tcT p.S772S ATP1A2_uc001fvb.2_Silent_p.S772S|ATP1A2_uc001fvd.3_Silent_p.S508S NM_000702 NP_000693 P50993 AT1A2_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA. 772 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TGAAGAAATCCATCGCCTACA 0.567000 100 24 0 0 0.00047179 0 0 HGSNAT 138050 broad.mit.edu 37 8 43048908 43048908 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:43048908C>T uc003xpx.4 + 13 1434 c.1386C>T c.(1384-1386)taC>taT p.Y462Y NM_152419 NP_689632 Q68CP4 HGNAT_HUMAN Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA. 490 lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity cervix(1)|endometrium(2)|large_intestine(4)|lung(6) 13 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) AGGTACTTTACCACACCGAGG 0.463000 29 17 0 0 0.000958276 0 0 RUFY4 285180 broad.mit.edu 37 2 218953976 218953976 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:218953976G>A uc010fvl.2 + 12 2021 c.1503_splice c.e12-1 p.Q501_splice RUFY4_uc002vgw.3_Splice_Site_p.Q328_splice NM_198483 NP_940885 Q6ZNE9 RUFY4_HUMAN Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA. 501 metal ion binding endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Renal(207;0.0915) Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CCCCATCAGAGAGAAGGACCG 0.537000 21 6 0 0 0.00198382 0 0 UNC5B 219699 broad.mit.edu 37 10 73046512 73046512 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:73046512G>A uc001jro.3 + 4 1070 c.619G>A c.(619-621)Gac>Aac p.D207N UNC5B_uc001jrp.3_Missense_Mutation_p.D207N NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA. 207 Ig-like C2-type. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 GCTCACCATCGACCACAACCT 0.612000 53 47 0 0 0.000781405 0 0 ZC3H18 124245 broad.mit.edu 37 16 88689680 88689680 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:88689680C>T uc010voz.2 + 10 1993 c.1793C>T c.(1792-1794)tCc>tTc p.S598F ZC3H18_uc002fky.3_Missense_Mutation_p.S574F|ZC3H18_uc010chw.3_Non-coding_Transcript NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA. 574 Ser-rich. nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) CGGTCGCGATCCCGGTCTTCA 0.662000 27 8 0 0 0.000442599 0 0 TRIOBP 11078 broad.mit.edu 37 22 38121734 38121734 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:38121734C>T uc003atr.3 + 6 3442 c.3171C>T c.(3169-3171)ccC>ccT p.P1057P TRIOBP_uc003atu.3_Silent_p.P885P|TRIOBP_uc003atq.1_Silent_p.P1057P|TRIOBP_uc003ats.1_Silent_p.P885P NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA. 1057 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) ACGAGCCTCCCTATATACCAC 0.657000 172 22 0 0 0.00278032 0 0 C9orf84 158401 broad.mit.edu 37 9 114464453 114464453 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:114464453C>T uc004bfr.3 - 20 2964 c.2829G>A c.(2827-2829)ctG>ctA p.L943L C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Silent_p.L904L|C9orf84_uc010mug.3_Silent_p.L854L NM_173521 NP_775792 Q5VXU9 CI084_HUMAN Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA. 943 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 ATAATGCCATCAGCCTCATAA 0.284000 35 17 0 0 0.000566183 0 0 LRP1B 53353 broad.mit.edu 37 2 141032145 141032145 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:141032145C>T uc002tvj.1 - 84 13962 c.12990G>A c.(12988-12990)gtG>gtA p.V4330V NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 4330 EGF-like 13. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATTCAGAATTCACACAATAGT 0.388000 TSP Lung(27;0.18) 13 6 0 0 0.00198382 0 0 MUC5B 727897 broad.mit.edu 37 11 1156224 1156224 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:1156224G>A uc021qbr.1 + 4 596 c.549G>A c.(547-549)ctG>ctA p.L183L Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 179 VWFD 1. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) AGGCCAGGCTGGGCCTTGTCC 0.662000 23 15 0 0 0.000422831 0 0 VPS13D 55187 broad.mit.edu 37 1 12401849 12401849 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:12401849C>T uc001atv.3 + 40 8780 c.8639C>T c.(8638-8640)aCc>aTc p.T2880I VPS13D_uc001atw.3_Missense_Mutation_p.T2855I|VPS13D_uc001atx.3_Missense_Mutation_p.T2067I NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 2879 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GAGGTGAAAACCCCCAAGCGC 0.572000 125 29 0 0 0.00283554 0 0 BEND3 57673 broad.mit.edu 37 6 107390646 107390646 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:107390646G>A uc003prs.2 - 4 2399 c.1749C>T c.(1747-1749)ccC>ccT p.P583P NM_001080450 NP_001073919 Q5T5X7 BEND3_HUMAN Homo sapiens BEN domain containing 3 (BEND3), mRNA. 583 BEN 3. central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3) 30 TGAAGAGCTCGGGGAACAGGT 0.632000 32 25 0 0 0.00106085 0 0 IL18R1 8809 broad.mit.edu 37 2 103010956 103010956 + Missense_Mutation SNP C T T rs141625347 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:103010956C>T uc002tbw.4 + 9 1289 c.1139C>T c.(1138-1140)tCt>tTt p.S380F IL18R1_uc010ywd.2_Missense_Mutation_p.S224F|IL18R1_uc010fiy.3_Missense_Mutation_p.S380F|IL18R1_uc010ywc.2_Missense_Mutation_p.S379F NM_003855 NP_003846 Q13478 IL18R_HUMAN Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA. 380 TIR. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GCTTTTGTGTCTTACCTAAAA 0.358000 48 20 0 0 0.00121646 0 0 RNASE9 390443 broad.mit.edu 37 14 21025085 21025085 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:21025085C>T uc010ahp.3 - 4 414 c.159G>A c.(157-159)ttG>ttA p.L53L RNASE9_uc010aho.3_Silent_p.L48L|RNASE9_uc001vxq.4_Silent_p.L53L|RNASE9_uc010ahq.3_Silent_p.L53L|RNASE9_uc010ahr.3_Silent_p.L53L|RNASE9_uc010ahs.3_Silent_p.L48L|RNASE9_uc010aht.3_Silent_p.L48L|RNASE9_uc010ahu.3_Silent_p.L48L|RNASE9_uc021rnt.1_Silent_p.L48L NM_001110359 NP_001103827 P60153 RNAS9_HUMAN Homo sapiens ribonuclease, RNase A family, 9 (non-active) (RNASE9), transcript variant 1, mRNA. 48 extracellular region nucleic acid binding|pancreatic ribonuclease activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1) 8 all_cancers(95;0.00238) Epithelial(56;3.32e-06)|all cancers(55;2.46e-05) GBM - Glioblastoma multiforme(265;0.0141) AAAATTTTTCCAAACACTCTT 0.408000 20 32 0 0 0.00178596 0 0 PNPLA7 375775 broad.mit.edu 37 9 140400467 140400467 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:140400467C>T uc010ncj.1 - 12 1631 c.1294G>A c.(1294-1296)Gac>Aac p.D432N PNPLA7_uc011mfa.1_Intron|PNPLA7_uc004cnf.2_Missense_Mutation_p.D407N NM_001098537 NP_001092007 Q6ZV29 PLPL7_HUMAN Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA. 407 FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509). lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity p.D407N(1) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) GGGTGCTCGTCCGAGTGCAGG 0.652000 19 14 0 0 0.00074312 0 0 GPR158 57512 broad.mit.edu 37 10 25885576 25885576 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:25885576C>T uc001isj.3 + 9 2063 c.2003C>T c.(2002-2004)tCa>tTa p.S668L GPR158_uc001isk.3_Missense_Mutation_p.S43L NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 668 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TTTCAGTTTTCACATTCAAGC 0.373000 9 8 0 0 0.000157383 0 0 MYO5B 4645 broad.mit.edu 37 18 47455914 47455914 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr18:47455914C>T uc002leb.2 - 16 2346 c.2058G>A c.(2056-2058)acG>acA p.T686T NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 686 Myosin head-like. protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity p.E685Q(1) NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TGATTCGAATCGTCTCCAACA 0.537000 39 9 0 0 0.00136819 0 0 HYDIN 54768 broad.mit.edu 37 16 70841794 70841794 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:70841794C>T uc002ezr.3 - 85 15203 c.15052G>A c.(15052-15054)Gga>Aga p.G5018R 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. 5019 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) AGAGCCATTCCAAAGAGGGGG 0.537000 58 22 0 0 0.000586117 0 0 MYLK 4638 broad.mit.edu 37 3 123444892 123444892 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:123444892G>A uc003ego.3 - 11 1832 c.1550C>T c.(1549-1551)tCc>tTc p.S517F MYLK_uc011bjw.2_Missense_Mutation_p.S517F|MYLK_uc003egp.3_Missense_Mutation_p.S448F|MYLK_uc003egq.3_Missense_Mutation_p.S517F|MYLK_uc003egr.3_Missense_Mutation_p.S448F|MYLK_uc003egs.3_Missense_Mutation_p.S341F NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 517 Ig-like C2-type 4. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CAGGACACTGGAGAAGGAGGG 0.597000 20 10 0 0 0.000978159 0 0 LOC646498 646498 broad.mit.edu 37 3 49215944 49215944 + Missense_Mutation SNP T C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:49215944T>C uc021wxt.1 - 2 256 c.169A>G c.(169-171)Aag>Gag p.K57E NM_001080528 NP_001073997 Homo sapiens uncharacterized LOC646498 (LOC646498), mRNA. BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.00221)|KIRC - Kidney renal clear cell carcinoma(197;0.00247) TTGTCGTGCTTGGAGAAGAAG 0.517000 41 12 0 0 0.000422831 0 0 RPE65 6121 broad.mit.edu 37 1 68896760 68896760 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:68896760C>T uc001dei.1 - 12 1492 c.1438G>A c.(1438-1440)Gaa>Aaa p.E480K NM_000329 NP_000320 Q16518 RPE65_HUMAN Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA. 480 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity p.E480Q(2) central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 TCATCTTCTTCCAAGGCATCT 0.398000 22 21 0 0 0.00188189 0 0 OSBP2 23762 broad.mit.edu 37 22 31286766 31286766 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:31286766G>A uc003aiy.1 + 7 1779 c.1675G>A c.(1675-1677)Gag>Aag p.E559K OSBP2_uc011ala.1_Missense_Mutation_p.E393K|OSBP2_uc010gwc.1_Missense_Mutation_p.E386K|OSBP2_uc011alb.1_Missense_Mutation_p.E510K|OSBP2_uc003aiz.1_Missense_Mutation_p.E558K|OSBP2_uc003aja.1_Missense_Mutation_p.E192K|OSBP2_uc011alc.2_Missense_Mutation_p.E301K|OSBP2_uc011ald.1_Missense_Mutation_p.E103K|OSBP2_uc010gwd.1_Missense_Mutation_p.E104K NM_030758 NP_110385 Q969R2 OSBP2_HUMAN Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA. 559 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 AGAGGACCTGGAGTACCACCA 0.627000 OREG0026467 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 70 9 0 0 0.000978159 0 0 SF3B1 23451 broad.mit.edu 37 2 198270043 198270043 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:198270043G>A uc002uue.3 - 9 1441 c.1393C>T c.(1393-1395)Cca>Tca p.P465S NM_012433 NP_036565 O75533 SF3B1_HUMAN Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA. 465 Interaction with PPP1R8. nuclear mRNA splicing, via spliceosome U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) TTTAAAAATGGAAGATTTCCA 0.338000 Mis myelodysplastic syndrome 56 9 0 0 0.000442599 0 0 OR4M1 441670 broad.mit.edu 37 14 20248664 20248664 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:20248664C>T uc010tku.2 + 0 183 c.183C>T c.(181-183)ttC>ttT p.F61F NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA. 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTATGTATTTCCTGTTGGCTA 0.393000 132 38 0 0 0.00128727 0 0 MUC5B 727897 broad.mit.edu 37 11 1156647 1156647 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:1156647G>A uc021qbr.1 + 5 711 c.664G>A c.(664-666)Gag>Aag p.E222K Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 218 VWFD 1. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CGTGGTCAGCGAGCTCCTCTC 0.607000 26 23 0 0 0.00047179 0 0 AAAS 8086 broad.mit.edu 37 12 53708084 53708084 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:53708084G>A uc001scr.4 - 6 850 c.687C>T c.(685-687)acC>acT p.T229T AAAS_uc001scs.4_Silent_p.T196T NM_015665 NP_056480 Q9NRG9 AAAS_HUMAN Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA. 229 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 GGACTTACCGGGTAGACAAGG 0.562000 108 44 0 0 0.000781405 0 0 GJA8 2703 broad.mit.edu 37 1 147380328 147380328 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:147380328C>T uc021ovm.1 + 0 246 c.246C>T c.(244-246)atC>atT p.I82I GJA8_uc001epu.2_Silent_p.I82I NM_005267 NP_005258 P48165 CXA8_HUMAN Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA. 82 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) TGCTGCAGATCATCTTCGTCT 0.627000 81 16 0 0 0.000958276 0 0 SCN1A 6323 broad.mit.edu 37 2 166848472 166848472 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:166848472G>A uc002udo.4 - 27 5540 c.5313C>T c.(5311-5313)atC>atT p.I1771I SCN1A_uc010fpk.3_Silent_p.I1743I|SCN1A_uc021vsb.1_Silent_p.I1760I NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 1771 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) GGAAGGATATGATGATGTAAC 0.458000 48 14 0 0 0.00244969 0 0 PRLHR 2834 broad.mit.edu 37 10 120353908 120353908 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:120353908G>A uc001ldp.1 - 1 988 c.849C>T c.(847-849)atC>atT p.I283I PRLHR_uc021pzm.1_Silent_p.I283I NM_004248 NP_004239 P49683 PRLHR_HUMAN Homo sapiens prolactin releasing hormone receptor (PRLHR), mRNA. 283 I -> V (in dbSNP:rs1613448). female pregnancy integral to plasma membrane neuropeptide Y receptor activity large_intestine(2)|lung(8)|ovary(1)|skin(1) 12 Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0166) ACACCACCACGATCACCACCA 0.692000 23 31 0 0 0.00111076 0 0 SLC9A2 6549 broad.mit.edu 37 2 103236409 103236409 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:103236409G>A uc002tca.3 + 0 244 c.102G>A c.(100-102)gaG>gaA p.E34E NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA. 34 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 cCCTGGCGGAGACCTTGCTGA 0.711000 7 10 0 0 0.000673444 0 0 FSHB 2488 broad.mit.edu 37 11 30255173 30255173 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:30255173G>A uc001msl.3 + 2 285 c.216G>A c.(214-216)aaG>aaA p.K72K FSHB_uc001msm.3_Silent_p.K72K|FSHB_uc001msn.3_Silent_p.K72K NM_000510 NP_001018090 P01225 FSHB_HUMAN Homo sapiens follicle stimulating hormone, beta polypeptide (FSHB), transcript variant 1, mRNA. 72 cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway cytoplasm|extracellular region|soluble fraction follicle-stimulating hormone activity|protein heterodimerization activity p.K72E(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 12 Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094) GTACCTTCAAGGAACTGGTAT 0.483000 14 19 0 0 0.00152264 0 0 PEG3 5178 broad.mit.edu 37 19 57328555 57328555 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:57328555C>T uc002qnu.2 - 6 1606 c.1255G>A c.(1255-1257)Ggt>Agt p.G419S PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G390S|PEG3_uc002qnv.2_Missense_Mutation_p.G419S|PEG3_uc002qnw.2_Missense_Mutation_p.G295S|PEG3_uc002qnx.2_Missense_Mutation_p.G293S|PEG3_uc010etr.2_Missense_Mutation_p.G419S NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 419 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) ATCTCACTACCACATTCAAAG 0.498000 127 33 0 0 0.00283554 0 0 CCDC105 126402 broad.mit.edu 37 19 15124546 15124546 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:15124546G>A uc002nae.2 + 1 732 c.633G>A c.(631-633)agG>agA p.R211R NM_173482 NP_775753 Q8IYK2 CC105_HUMAN Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA. 211 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 GCATGAAGAGGAAAATGGAGA 0.488000 21 6 0 0 0.00198382 0 0 SP140L 93349 broad.mit.edu 37 2 231267534 231267534 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:231267534G>A uc010fxm.1 + 18 1757 c.1666G>A c.(1666-1668)Gga>Aga p.G556R NM_138402 NP_612411 Q9H930 LY10L_HUMAN Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA. 0 nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 TGGCCAAATGGGACTTAGACT 0.378000 78 16 0 0 0.000422831 0 0 NOTCH4 4855 broad.mit.edu 37 6 32189026 32189026 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:32189026G>A uc003obb.3 - 3 667 c.528C>T c.(526-528)ccC>ccT p.P176P NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Silent_p.P176P NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 176 EGF-like 4. Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 ACTGGATCTGGGGGTATGTGG 0.612000 174 150 0 0 0.000781405 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834414 101834414 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:101834414C>T uc003knn.3 - 0 307 c.135G>A c.(133-135)ggG>ggA p.G45G SLCO6A1_uc003kno.3_Silent_p.G45G|SLCO6A1_uc003knp.3_Silent_p.G45G|SLCO6A1_uc003knq.3_Silent_p.G45G NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA. 45 integral to membrane|plasma membrane transporter activity p.P44P(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) GGTGTTTTTTCCCGGGCTTCG 0.572000 137 72 0 0 0.000781405 0 0 MCMDC2 157777 broad.mit.edu 37 8 67793138 67793138 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr8:67793138C>T uc003xwz.4 + 7 935 c.764C>T c.(763-765)cCa>cTa p.P255L MCMDC2_uc003xwv.3_Missense_Mutation_p.P255L|MCMDC2_uc011lev.2_Missense_Mutation_p.P255L|MCMDC2_uc011lew.2_Missense_Mutation_p.P186L|MCMDC2_uc011lex.2_Missense_Mutation_p.P13L|MCMDC2_uc003xwy.4_Missense_Mutation_p.P255L NM_173518 NP_775789 Q4G0Z9 CH045_HUMAN Homo sapiens chromosome 8 open reading frame 45 (C8orf45), transcript variant 1, mRNA. 255 DNA replication ATP binding|DNA binding endometrium(2)|kidney(2)|lung(5) 9 ATTGGAATTCCAACCTGTGTA 0.244000 25 9 0 0 0.000442599 0 0 USP7 7874 broad.mit.edu 37 16 8988680 8988680 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:8988680G>A uc002czl.2 - 28 3271 c.3072C>T c.(3070-3072)atC>atT p.I1024I USP7_uc010uyj.1_Silent_p.I925I|USP7_uc002czk.2_Silent_p.I1008I NM_003470 NP_003461 Q93009 UBP7_HUMAN Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA. 1024 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process PML body|cytoplasm cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 GCAGGCTCTGGATTCGCTTCA 0.592000 90 31 0 0 0.0024448 0 0 KRT25 147183 broad.mit.edu 37 17 38911301 38911301 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:38911301G>A uc002hve.3 - 0 284 c.223C>T c.(223-225)Ctt>Ttt p.L75F NM_181534 NP_853512 Q7Z3Z0 K1C25_HUMAN Homo sapiens keratin 25 (KRT25), mRNA. 75 Gly-rich.|Head. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) TTGCCAGAAAGGAGCCCCCGC 0.577000 65 38 0 0 0.00170553 0 0 MYH1 4619 broad.mit.edu 37 17 10395868 10395868 + Silent SNP G C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:10395868G>C uc002gmo.3 - 39 5779 c.5685C>G c.(5683-5685)gtC>gtG p.V1895V AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1895 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TGGAGAGGTTGACGTTGGATT 0.473000 30 23 0 0 0.00278032 0 0 VAMP7 6845 broad.mit.edu 37 X 155171569 155171569 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:155171569C>T uc004fnr.3 + 7 795 c.617C>T c.(616-618)tCa>tTa p.S206L VAMP7_uc011naa.2_Missense_Mutation_p.S167L|VAMP7_uc011nab.2_Missense_Mutation_p.S105L|VAMP7_uc004fnt.3_Missense_Mutation_p.S165L|VAMP7_uc004fns.3_Silent_p.F183F|VAMP7_uc011nac.2_Missense_Mutation_p.S139L NM_005638 NP_005629 P51809 VAMP7_HUMAN Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA. 206 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) ATCATTGTTTCACCTCTCTGT 0.353000 34 32 0 0 0.00148497 0 0 KIF21B 23046 broad.mit.edu 37 1 200946498 200946498 + Silent SNP C A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:200946498C>A uc001gvs.2 - 30 4484 c.4167G>T c.(4165-4167)tcG>tcT p.S1389S KIF21B_uc009wzl.2_Silent_p.S1389S|KIF21B_uc001gvr.2_Silent_p.S1376S|KIF21B_uc010ppn.2_Silent_p.S1376S NM_001252100 NP_001239029 O75037 KI21B_HUMAN Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA. 1389 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TCACCTGGCCCGAGGACCTGC 0.562000 121 6 0.00198382 0.00716019 0.00198382 1 0 SEL1L3 23231 broad.mit.edu 37 4 25783914 25783914 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:25783914C>T uc003gru.4 - 14 2559 c.2407G>A c.(2407-2409)Gga>Aga p.G803R SEL1L3_uc003grv.3_Missense_Mutation_p.G210R NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA. 803 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 TGCAGGACTCCAAGATTGTAT 0.448000 74 21 0 0 0.000586117 0 0 COL6A3 1293 broad.mit.edu 37 2 238253147 238253148 + Missense_Mutation DNP CC TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:238253147_238253148CC>TT uc002vwl.2 - 35 7798_7799 c.7513_7514GG>AA c.(7513-7515)gga>AAa p.G2505K COL6A3_uc002vwo.2_Missense_Mutation_p.G2299K|COL6A3_uc010znj.1_Missense_Mutation_p.G1898K|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Missense_Mutation_p.G326K NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 2505 Nonhelical region.|VWFA 11. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CATTAGGAATCCGTTCCTCACA 0.510000 70 67 0 0 6.4e-05 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121652699 121652699 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:121652699C>T uc003vjy.3 + 11 3994 c.3599C>T c.(3598-3600)cCa>cTa p.P1200L PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA. 1200 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 ACTGTTCTTCCAGCTGTGCCC 0.378000 82 108 0 0 0.000781405 0 0 CNGA1 1259 broad.mit.edu 37 4 47939467 47939467 + Missense_Mutation SNP T A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:47939467T>A uc003gxu.3 - 9 1392 c.1251A>T c.(1249-1251)aaA>aaT p.K417N BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.K348N NM_001142564 NP_000078 P29973 CNGA1_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA. 348 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 TGTATACGTATTTTCTAGCCA 0.413000 76 44 0 0 0.00285205 0 0 NF1 4763 broad.mit.edu 37 17 29654712 29654712 + Nonsense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:29654712C>T uc002hgg.3 + 37 5847 c.5464C>T c.(5464-5466)Cag>Tag p.Q1822* NF1_uc002hgh.3_Nonsense_Mutation_p.Q1801*|NF1_uc002hgi.1_Nonsense_Mutation_p.Q834*|NF1_uc010cso.3_Nonsense_Mutation_p.Q10* NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 1822 MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AGCCATTGTCCAGTCTATCAT 0.522000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 57 48 0 0 0.000781405 0 0 PRSS36 146547 broad.mit.edu 37 16 31157129 31157129 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:31157129C>T uc002ebd.3 - 5 760 c.701G>A c.(700-702)gGc>gAc p.G234D PRSS36_uc010vff.2_Missense_Mutation_p.G9D|PRSS36_uc010vfg.2_Missense_Mutation_p.G234D|PRSS36_uc010vfh.2_Missense_Mutation_p.G234D NM_173502 NP_775773 Q5K4E3 POLS2_HUMAN Homo sapiens protease, serine, 36 (PRSS36), mRNA. 234 Peptidase S1 1. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 GTCCCTGCGGCCCTCTGGGTA 0.607000 37 44 0 0 0.000680045 0 0 C5AR1 728 broad.mit.edu 37 19 47823499 47823499 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:47823499C>T uc002pgj.1 + 1 514 c.465C>T c.(463-465)atC>atT p.I155I NM_001736 NP_001727 P21730 C5AR_HUMAN Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA. 155 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) TGGCCTGGATCGCCTGTGCCG 0.607000 115 25 0 0 0.001512 0 0 ZNF606 80095 broad.mit.edu 37 19 58490821 58490821 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:58490821G>A uc002qqw.3 - 6 1845 c.1227C>T c.(1225-1227)ttC>ttT p.F409F ZNF606_uc010yhp.2_Silent_p.F319F NM_025027 NP_079303 Q8WXB4 ZN606_HUMAN Homo sapiens zinc finger protein 606 (ZNF606), mRNA. 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 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;0.0168) AGCTCCAGATGAAAGACGTCC 0.393000 57 28 0 0 0.000878237 0 0 BPIFB3 359710 broad.mit.edu 37 20 31660574 31660574 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:31660574C>T uc002wym.1 + 13 1376 c.1376C>T c.(1375-1377)tCc>tTc p.S459F NM_182658 NP_872599 P59826 LPLC3_HUMAN Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA. 459 innate immune response cytoplasm|extracellular region lipid binding|protein binding ATCAATTTTTCCAATTCAGTT 0.463000 69 19 0 0 0.00047179 0 0 CYP2C19 1557 broad.mit.edu 37 10 96493179 96493179 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:96493179C>T uc001kjv.4 + 7 1601 c.1275C>T c.(1273-1275)ttC>ttT p.F425F CYP2C19_uc001kjw.4_Silent_p.F366F|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.S29L NM_000772 NP_000763 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA. 425 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) GTGACTACTTCATGCCTTTCT 0.438000 13 8 0 0 0.000157383 0 0 PKP4 8502 broad.mit.edu 37 2 159481448 159481448 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:159481448C>T uc002tzv.3 + 6 922 c.662C>T c.(661-663)tCt>tTt p.S221F PKP4_uc002tzt.1_Missense_Mutation_p.S73F|PKP4_uc002tzu.3_Missense_Mutation_p.S221F|PKP4_uc002tzw.3_Missense_Mutation_p.S221F|PKP4_uc002tzx.3_Intron|PKP4_uc002tzy.1_Intron|PKP4_uc002tzz.1_Missense_Mutation_p.S219F|PKP4_uc002uaa.3_Missense_Mutation_p.S73F NM_003628 NP_003619 Q99569 PKP4_HUMAN Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA. 221 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 AGAGCACAGTCTCCTTCTTAT 0.512000 HNSCC(62;0.18) 105 33 0 0 0.00111076 0 0 SLC2A11 66035 broad.mit.edu 37 22 24219284 24219284 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr22:24219284C>T uc011ajc.1 + 4 973 c.483C>T c.(481-483)ctC>ctT p.L161L SLC2A11_uc002zyl.1_Silent_p.L161L|SLC2A11_uc002zym.4_Silent_p.L161L|SLC2A11_uc002zyn.4_Silent_p.L154L|SLC2A11_uc002zyo.4_Non-coding_Transcript|SLC2A11_uc011ajd.1_Silent_p.L148L|SLC2A11_uc002zyp.4_Silent_p.L157L Q9BYW1 GTR11_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 11 (SLC2A11), transcript variant 1, mRNA. 154 integral to membrane|plasma membrane sugar transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 12 CTAAGGAGCTCCGAGGAGCTG 0.617000 19 65 0 0 0.000781405 0 0 CSF1 1435 broad.mit.edu 37 1 110465890 110465890 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:110465890C>T uc001dyu.2 + 5 1060 c.647C>T c.(646-648)gCc>gTc p.A216V CSF1_uc001dyt.2_Missense_Mutation_p.A216V|CSF1_uc021ori.1_Intron|CSF1_uc001dyw.4_Missense_Mutation_p.A216V|CSF1_uc021orj.1_Intron NM_172212 NP_757351 P09603 CSF1_HUMAN Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA. 216 cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) CCCTCCATGGCCCCTGTGGCT 0.642000 OREG0013645 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 70 0 0 0.000781405 0 0 ZNF598 90850 broad.mit.edu 37 16 2049661 2049661 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:2049661G>A uc002cof.1 - 10 1904 c.1889C>T c.(1888-1890)gCc>gTc p.A630V TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_5'UTR NM_178167 NP_835461 Q86UK7 ZN598_HUMAN Homo sapiens zinc finger protein 598 (ZNF598), mRNA. 630 Pro-rich. intracellular zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 AACGACGACGGCAACTGGCCC 0.706000 25 13 0 0 0.00185496 0 0 BPIFA1 51297 broad.mit.edu 37 20 31825584 31825584 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:31825584G>A uc002wyt.4 + 1 137 c.67G>A c.(67-69)Ggc>Agc p.G23S BPIFA1_uc002wyu.4_Missense_Mutation_p.G23S|BPIFA1_uc002wyv.3_Missense_Mutation_p.G23S NM_130852 NP_570913 Q9NP55 PLUNC_HUMAN Homo sapiens BPI fold containing family A, member 1 (BPIFA1), transcript variant 2, mRNA. 23 innate immune response extracellular region lipid binding CCAGTTTGGAGGCCTGCCCGT 0.547000 64 17 0 0 0.00074312 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12939698 12939698 + Missense_Mutation SNP T G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:12939698T>G uc001aun.2 - 3 1175 c.1104A>C c.(1102-1104)caA>caC p.Q368H NM_001009611 NP_001009611 O60810 PRAM4_HUMAN Homo sapiens PRAME family member 4 (PRAMEF4), mRNA. 368 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) 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) TGGCGTTGACTTGGGAGTCTA 0.507000 510 131 0 0 0.000781405 0 0 CAPN10 11132 broad.mit.edu 37 2 241528788 241528788 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:241528788C>T uc002vzk.2 + 1 366 c.170C>T c.(169-171)cCa>cTa p.P57L CAPN10_uc010zoh.2_Missense_Mutation_p.P57L|CAPN10_uc002vzp.2_Non-coding_Transcript|CAPN10_uc002vzm.2_Intron|CAPN10_uc002vzl.2_Missense_Mutation_p.P57L|CAPN10_uc002vzn.2_5'UTR|CAPN10_uc002vzo.2_Non-coding_Transcript|CAPN10_uc010fzg.2_Non-coding_Transcript|CAPN10_uc002vzq.2_Missense_Mutation_p.P57L NM_023083 NP_075571 Q9HC96 CAN10_HUMAN Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA. 57 Calpain catalytic. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) CGGCTGTTTCCAGATGACCCA 0.577000 166 37 0 0 0.00148497 0 0 CRYZ 1429 broad.mit.edu 37 1 75188903 75188903 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:75188903G>A uc001dgk.3 - 3 668 c.163C>T c.(163-165)Cgc>Tgc p.R55C CRYZ_uc001dgj.3_Missense_Mutation_p.R55C|CRYZ_uc001dgl.3_Missense_Mutation_p.R55C|CRYZ_uc001dgm.3_5'UTR NM_001130042 NP_001880 Q08257 QOR_HUMAN Homo sapiens crystallin, zeta (quinone reductase) (CRYZ), transcript variant 1, mRNA. 55 protein homotetramerization|visual perception|xenobiotic catabolic process Golgi apparatus|cytosol NADPH binding|NADPH:quinone reductase activity|mRNA 3'-UTR binding|zinc ion binding NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5) 10 Dicumarol(DB00266) GTACCAGAGCGAATGTATGTC 0.423000 49 48 0 0 0.000781405 0 0 ZFP106 64397 broad.mit.edu 37 15 42743985 42743985 + Missense_Mutation SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:42743985A>C uc001zpw.3 - 1 743 c.416T>G c.(415-417)tTt>tGt p.F139C ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_5'UTR|ZFP106_uc001zpy.1_Missense_Mutation_p.F162C NM_022473 NP_071918 Q9H2Y7 ZF106_HUMAN Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA. 139 nucleolus zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.6e-07) AGTATTATTAAAGCCATCTTT 0.493000 37 24 0 0 0.00229938 0 0 NFATC4 4776 broad.mit.edu 37 14 24839499 24839499 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:24839499C>T uc001wpc.3 + 1 1216 c.895C>T c.(895-897)Cca>Tca p.P299S NFATC4_uc010alr.3_Missense_Mutation_p.P362S|NFATC4_uc010tok.2_Missense_Mutation_p.P362S|NFATC4_uc010tol.2_Missense_Mutation_p.P362S|NFATC4_uc010als.2_Missense_Mutation_p.P312S|NFATC4_uc010too.2_Missense_Mutation_p.P312S|NFATC4_uc010tom.2_Missense_Mutation_p.P312S|NFATC4_uc010ton.2_Missense_Mutation_p.P312S|NFATC4_uc010toq.2_Missense_Mutation_p.P331S|NFATC4_uc010alt.3_Missense_Mutation_p.P331S|NFATC4_uc010top.2_Missense_Mutation_p.P331S|NFATC4_uc010alu.3_Intron|NFATC4_uc010tor.2_Missense_Mutation_p.P299S|NFATC4_uc010tos.2_Missense_Mutation_p.P229S|NFATC4_uc010tot.2_Missense_Mutation_p.P287S|NFATC4_uc010tou.2_Missense_Mutation_p.P229S|NFATC4_uc010tov.2_Missense_Mutation_p.P287S|NFATC4_uc010tow.2_Missense_Mutation_p.P229S|NFATC4_uc010alv.3_Missense_Mutation_p.P287S|NFATC4_uc010tox.2_Missense_Mutation_p.P229S|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank NM_004554 NP_001185895 Q14934 NFAC4_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA. 299 Pro-rich. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) TGAGCCACCTCCACCACCCCC 0.672000 7 16 0 0 0.000422831 0 0 OR2T3 343173 broad.mit.edu 37 1 248637552 248637552 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:248637552G>A uc001iel.1 + 0 901 c.901G>A c.(901-903)Gat>Aat p.D301N NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA. 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCGCAACAAAGATGTCACCAG 0.478000 297 17 0 0 0.00278032 0 0 OR8D2 283160 broad.mit.edu 37 11 124189886 124189886 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:124189886C>T uc010sah.2 - 0 208 c.208G>A c.(208-210)Gat>Aat p.D70N NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA. 70 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) TAGCAGAGATCAATGAAAGAC 0.413000 9 9 0 0 0.000442599 0 0 ZEB2 9839 broad.mit.edu 37 2 145158812 145158812 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:145158812G>A uc002tvu.3 - 6 1392 c.870C>T c.(868-870)gcC>gcT p.A290A ZEB2_uc010zbm.2_Silent_p.A266A|ZEB2_uc002tvv.3_Silent_p.A284A|ZEB2_uc010fnp.3_Silent_p.A198A|ZEB2_uc010fnq.1_Silent_p.A319A NM_014795 NP_055610 O60315 ZEB2_HUMAN Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA. 290 cytoplasm|nucleolus SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) TATATTTGAAGGCCTTGCCAC 0.443000 86 75 0 0 0.000781405 0 0 KCNH8 131096 broad.mit.edu 37 3 19554559 19554559 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:19554559C>T uc003cbk.1 + 12 2372 c.2177C>T c.(2176-2178)tCc>tTc p.S726F KCNH8_uc010hex.1_Missense_Mutation_p.S187F NM_144633 NP_653234 Q96L42 KCNH8_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA. 726 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 gaggCAGTCTCCCTCTCTCCC 0.532000 11 4 0 0 0.00024832 0 0 CELSR2 1952 broad.mit.edu 37 1 109807221 109807222 + Missense_Mutation DNP GG TT TT TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:109807221_109807222GG>TT uc001dxa.4 + 10 5496_5497 c.5435_5436GG>TT c.(5434-5436)tgg>tTT p.W1812F NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA. 1812 EGF-like 5; calcium-binding. Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) AGCAACGACTGGGACAGCTATT 0.579000 585 14 0 0 6.4e-05 0 0 FREM1 158326 broad.mit.edu 37 9 14776104 14776104 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:14776104C>T uc003zlm.3 - 25 5356 c.4540G>A c.(4540-4542)Ggg>Agg p.G1514R FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_5'Flank|FREM1_uc003zll.3_Missense_Mutation_p.G50R NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 1514 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) AGTCTCAACCCCTTGTTCCTG 0.587000 6 24 0 0 0.000720815 0 0 VPS33A 65082 broad.mit.edu 37 12 122748207 122748207 + Missense_Mutation SNP G A A rs150472752 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:122748207G>A uc001ucd.3 - 2 321 c.208C>T c.(208-210)Cgt>Tgt p.R70C VPS33A_uc001ucc.3_Non-coding_Transcript NM_022916 NP_075067 Q96AX1 VP33A_HUMAN Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA. 70 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding p.R70C(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) GCCGGCAAACGATTTCCTTTA 0.373000 39 18 0 0 0.000566183 0 0 BCOR 54880 broad.mit.edu 37 X 39933481 39933481 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:39933481G>A uc004den.4 - 3 1410 c.1118C>T c.(1117-1119)tCa>tTa p.S373L BCOR_uc004dep.4_Missense_Mutation_p.S373L|BCOR_uc004deo.4_Missense_Mutation_p.S373L|BCOR_uc004dem.4_Missense_Mutation_p.S373L|BCOR_uc004deq.4_Missense_Mutation_p.S373L NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA. 373 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 GTATGGCTTTGACAGGGCAAC 0.602000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 2 34 0 0 0.00058488 0 0 ITGA1 3672 broad.mit.edu 37 5 52189578 52189578 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:52189578G>A uc003jou.3 + 8 1411 c.997G>A c.(997-999)Gaa>Aaa p.E333K ITGA1_uc003jov.3_Non-coding_Transcript NM_181501 NP_852478 P56199 ITA1_HUMAN Homo sapiens integrin, alpha 1 (ITGA1), mRNA. 333 VWFA. axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) AATTGCAAGTGAACCCACTGA 0.373000 55 14 0 0 0.00244969 0 0 SCN2A 6326 broad.mit.edu 37 2 166167084 166167084 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:166167084G>A uc002udc.3 + 6 1239 c.949G>A c.(949-951)Gat>Aat p.D317N SCN2A_uc002udd.3_Missense_Mutation_p.D317N|SCN2A_uc002ude.3_Missense_Mutation_p.D317N NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 317 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) ATTTAACTGGGATGAATATAT 0.259000 23 5 0 0 0.000602214 0 0 EBF1 1879 broad.mit.edu 37 5 158141181 158141181 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:158141181G>A uc010jip.3 - 11 1437 c.1135C>T c.(1135-1137)Ctc>Ttc p.L379F EBF1_uc011ddw.2_Missense_Mutation_p.L247F|EBF1_uc011ddx.2_Missense_Mutation_p.L380F|EBF1_uc003lxl.4_Missense_Mutation_p.L348F NM_024007 NP_076870 Q9UH73 COE1_HUMAN Homo sapiens early B-cell factor 1 (EBF1), mRNA. 379 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCCCTTTTGAGTATTACTTCC 0.488000 T HMGA2 lipoma 124 68 0 0 0.000781405 0 0 NLRP3 114548 broad.mit.edu 37 1 247608119 247608119 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:247608119C>T uc001icr.3 + 9 3145 c.3007C>T c.(3007-3009)Ctg>Ttg p.L1003L NLRP3_uc001ics.3_Silent_p.L946L|NLRP3_uc001icu.3_Silent_p.L1003L|NLRP3_uc001icw.3_Silent_p.L946L|NLRP3_uc001icv.3_Silent_p.L889L|NLRP3_uc010pyw.2_Silent_p.L981L NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 1003 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CCTGCAGAACCTGGGGTGAGT 0.552000 31 4 0 0 0.00024832 0 0 PKHD1 5314 broad.mit.edu 37 6 51923238 51923238 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:51923238C>T uc003pah.1 - 15 1671 c.1395G>A c.(1393-1395)agG>agA p.R465R PKHD1_uc003pai.3_Silent_p.R465R NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 465 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) TCCTCATCCCCCTGCTTGGGG 0.562000 30 30 0 0 0.00283554 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72054795 72054795 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:72054795C>T uc001xms.3 + 1 567 c.206C>T c.(205-207)cCc>cTc p.P69L SIPA1L1_uc001xmt.3_Missense_Mutation_p.P69L|SIPA1L1_uc001xmu.3_Missense_Mutation_p.P69L|SIPA1L1_uc001xmv.3_Missense_Mutation_p.P69L NM_015556 NP_056371 O43166 SI1L1_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA. 69 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ACCTCAACCCCCGGAGTCCCA 0.507000 86 32 0 0 0.00209593 0 0 NOTCH4 4855 broad.mit.edu 37 6 32163318 32163318 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:32163318G>A uc003obb.3 - 29 6047 c.5908C>T c.(5908-5910)Cct>Tct p.P1970S GPSM3_uc003oay.4_5'Flank|GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_3'UTR|NOTCH4_uc003oba.3_Missense_Mutation_p.P630S|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 1970 Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GTAAGGCAAGGAGGCGGGATC 0.617000 147 131 0 0 0.000781405 0 0 FAM179A 165186 broad.mit.edu 37 2 29226426 29226426 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:29226426G>A uc010ezl.3 + 5 1059 c.708G>A c.(706-708)gtG>gtA p.V236V FAM179A_uc010ymm.2_Silent_p.V236V NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA. 236 binding p.V236M(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GCGCCATCGTGATCCCACCCA 0.642000 10 4 0 0 0.000602214 0 0 PTPRB 5787 broad.mit.edu 37 12 70954661 70954661 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:70954661G>A uc001swb.4 - 14 3598 c.3568C>T c.(3568-3570)Ctt>Ttt p.L1190F PTPRB_uc010sto.2_Missense_Mutation_p.L1100F|PTPRB_uc010stp.2_Missense_Mutation_p.L1100F|PTPRB_uc001swc.4_Missense_Mutation_p.L1408F|PTPRB_uc001swa.4_Missense_Mutation_p.L1320F|PTPRB_uc001swd.4_Missense_Mutation_p.L1407F|PTPRB_uc009zrr.2_Missense_Mutation_p.L1287F NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 1190 Fibronectin type-III 14. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TTGAACCAAAGGCTGTCTGTC 0.448000 55 27 0 0 0.00106085 0 0 TRIM17 51127 broad.mit.edu 37 1 228596903 228596903 + Missense_Mutation SNP C T T rs145945297 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:228596903C>T uc001hsu.3 - 5 1238 c.853G>A c.(853-855)Gga>Aga p.G285R TRIM11_uc001hss.3_5'Flank|TRIM11_uc010pvx.2_5'Flank|TRIM11_uc001hst.1_5'Flank|TRIM17_uc001hsv.3_Missense_Mutation_p.G285R|TRIM17_uc009xfb.2_Missense_Mutation_p.G285R NM_016102 NP_057186 Q9Y577 TRI17_HUMAN Homo sapiens tripartite motif containing 17 (TRIM17), transcript variant 1, mRNA. 285 B30.2/SPRY. protein autoubiquitination intracellular protein binding|ubiquitin-protein ligase activity|zinc ion binding p.P284P(1) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 10 Prostate(94;0.0724) TCAATCTGTCCGGGAACTCTG 0.602000 136 34 0 0 0.00128727 0 0 CCR9 10803 broad.mit.edu 37 3 45943249 45943249 + Missense_Mutation SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:45943249A>T uc003coz.2 + 2 1149 c.969A>T c.(967-969)agA>agT p.R323S LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.2_Missense_Mutation_p.R311S|CCR9_uc003cpa.2_Missense_Mutation_p.R311S|CCR9_uc021wwv.1_Missense_Mutation_p.R311S NM_031200 NP_006632 P51686 CCR9_HUMAN Homo sapiens chemokine (C-C motif) receptor 9 (CCR9), transcript variant A, mRNA. 323 cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane p.R323I(1) breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214) TGGGTGAGAGATTCCGCCGGG 0.517000 57 14 0 0 0.00185496 0 0 CASR 846 broad.mit.edu 37 3 121981042 121981042 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:121981042G>A uc003eew.4 + 3 1598 c.1160G>A c.(1159-1161)aGc>aAc p.S387N CASR_uc003eev.4_Missense_Mutation_p.S387N NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 387 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) TTTAGCAACAGCTCGACAGCC 0.488000 49 15 0 0 0.00244969 0 0 HERC3 8916 broad.mit.edu 37 4 89628082 89628082 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:89628082G>A uc003hrw.1 + 25 3290 c.3124G>A c.(3124-3126)Gac>Aac p.D1042N HERC3_uc011cdn.1_Missense_Mutation_p.D924N|HERC3_uc011cdo.1_Missense_Mutation_p.D486N|FAM13A-AS1_uc003hry.1_5'Flank NM_014606 NP_055421 Q15034 HERC3_HUMAN Homo sapiens hect domain and RLD 3 (HERC3), mRNA. 1042 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) CCAGGCCCTTGACAACTATGA 0.517000 OREG0016265 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 12 0 0 0.00244969 0 0 ANKAR 150709 broad.mit.edu 37 2 190585403 190585403 + Missense_Mutation SNP A G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:190585403A>G uc002uqw.2 + 11 2613 c.2525A>G c.(2524-2526)aAt>aGt p.N842S ANKAR_uc002uqu.3_Intron|ANKAR_uc002uqx.2_Non-coding_Transcript NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA. 842 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) GTGCTAGTAAATGTAATGAAC 0.299000 232 56 0 0 0.000781405 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52115563 52115563 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:52115563G>A uc002pxe.3 - 8 1716 c.1577C>T c.(1576-1578)tCt>tTt p.S526F NM_003830 NP_003821 O15389 SIGL5_HUMAN Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA. 526 cell adhesion integral to membrane sugar binding p.S526Y(2) 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) CTTCATCTCAGAAAAACTAAG 0.552000 106 36 0 0 0.000953801 0 0 PCSK5 5125 broad.mit.edu 37 9 78601055 78601055 + Nonsense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:78601055G>A uc004akc.2 + 2 843 c.305G>A c.(304-306)tGg>tAg p.W102* PCSK5_uc004ajy.2_Nonsense_Mutation_p.W102*|PCSK5_uc004ajz.3_Nonsense_Mutation_p.W102*|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. 102 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 CAGGTGGAATGGATCCAACAG 0.448000 65 18 0 0 0.000958276 0 0 C14orf39 317761 broad.mit.edu 37 14 60903654 60903654 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:60903654G>A uc001xez.4 - 17 1783 c.1673C>T c.(1672-1674)tCa>tTa p.S558L C14orf39_uc010apo.3_Missense_Mutation_p.S269L NM_174978 NP_777638 Q08AQ4 Q08AQ4_HUMAN Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA. 558 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) CTGTCCAAATGAAAATGGAAA 0.338000 209 65 0 0 0.000781405 0 0 USP6 9098 broad.mit.edu 37 17 5074166 5074166 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:5074166G>A uc002gau.1 + 35 6140 c.3910G>A c.(3910-3912)Gaa>Aaa p.E1304K USP6_uc002gav.1_Missense_Mutation_p.E1304K|USP6_uc010ckz.1_Missense_Mutation_p.E987K NM_004505 NP_004496 P35125 UBP6_HUMAN Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA. 1304 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TGACCAAAGAGAAGACACTCA 0.408000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 16 21 0 0 0.00278032 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94668201 94668201 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:94668201G>A uc001dqj.4 - 10 1411 c.1042C>T c.(1042-1044)Cgt>Tgt p.R348C ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Missense_Mutation_p.R348C NM_004815 NP_004806 Q52LW3 RHG29_HUMAN Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA. 348 Rho protein signal transduction cytosol Rho GTPase activator activity|metal ion binding NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TCTTCTGCACGAAACATGGAA 0.408000 126 107 0 0 0.000781405 0 0 FAM171B 165215 broad.mit.edu 37 2 187626229 187626229 + Missense_Mutation SNP A T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:187626229A>T uc002ups.3 + 7 1272 c.1160A>T c.(1159-1161)aAa>aTa p.K387I FAM171B_uc002upr.1_Missense_Mutation_p.K387I|FAM171B_uc002upt.3_5'Flank NM_177454 NP_803237 Q6P995 F171B_HUMAN Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA. 387 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 ACTCCACAGAAAAGAGAAAGA 0.333000 75 21 0 0 0.00278032 0 0 PPDPF 79144 broad.mit.edu 37 20 62152912 62152912 + Missense_Mutation SNP T G G TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:62152912T>G uc002yff.3 + 2 243 c.103T>G c.(103-105)Tgc>Ggc p.C35G NM_024299 NP_077275 Q9H3Y8 PPDPF_HUMAN Homo sapiens pancreatic progenitor cell differentiation and proliferation factor homolog (zebrafish) (PPDPF), mRNA. 35 cell differentiation|multicellular organismal development kidney(1)|lung(2)|ovary(1) 4 CAGTACCGAGTGCCCCGGGGA 0.687000 49 12 0 0 0.00136819 0 0 YIPF7 285525 broad.mit.edu 37 4 44626725 44626725 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:44626725G>A uc021xnx.1 - 4 590 c.573C>T c.(571-573)aaC>aaT p.N191N NM_182592 NP_872398 Q8N8F6 YIPF7_HUMAN Homo sapiens Yip1 domain family, member 7 (YIPF7), mRNA. 191 endoplasmic reticulum membrane|integral to membrane breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1) 12 AGCTCATCAGGTTCAGCAAGG 0.512000 15 4 0 0 0.00024832 0 0 SLIT3 6586 broad.mit.edu 37 5 168093514 168093514 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:168093514G>A uc010jjg.3 - 35 4958 c.4538C>T c.(4537-4539)tCg>tTg p.S1513L SLIT3_uc003mab.3_Missense_Mutation_p.S1506L NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 1506 CTCK. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTCTACAAACGAGGAGCCGTC 0.637000 11 11 0 0 0.000978159 0 0 CYP2C9 1559 broad.mit.edu 37 10 96701948 96701948 + Splice_Site SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:96701948G>A uc001kka.4 + 3 357 c.332_splice c.e3-1 p.G111_splice CYP2C9_uc009xut.3_Splice_Site_p.G111_splice|CYP2C9_uc001kjz.3_Splice_Site_p.G111_splice NM_000771 NP_000762 P11712 CP2C9_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA. 111 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) CTTCCTGTTAGGAATTGTTTT 0.532000 12 14 0 0 0.00185496 0 0 SHANK2 22941 broad.mit.edu 37 11 70506017 70506017 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:70506017G>A uc001oqc.3 - 13 1897 c.1785C>T c.(1783-1785)ttC>ttT p.F595F SHANK2_uc010rqn.2_Silent_p.F71F|SHANK2_uc001opz.3_Silent_p.F71F|BC127192_uc009ysn.1_Intron|SHANK2_uc010rqp.1_Silent_p.F71F NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA. 280 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) GTAGGGCTGGGAAAGCCGGTG 0.552000 15 18 0 0 0.000958276 0 0 CDCP2 200008 broad.mit.edu 37 1 54610386 54610386 + Silent SNP G A A rs150004831 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:54610386G>A uc001cwv.1 - 1 1028 c.180C>T c.(178-180)atC>atT p.I60I NM_201546 NP_963840 Q5VXM1 CDCP2_HUMAN Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA. 60 CUB 1. extracellular region kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1) 24 CGGCCACCACGATCAGCCAGC 0.557000 22 22 0 0 0.00188189 0 0 OR8D1 283159 broad.mit.edu 37 11 124180576 124180576 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:124180576G>A uc010sag.2 - 0 87 c.87C>T c.(85-87)ctC>ctT p.L29L NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA. 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 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;0.0528) CCAGGAACAGGAGGAAGAGGG 0.478000 28 14 0 0 0.00244969 0 0 SHANK1 50944 broad.mit.edu 37 19 51217121 51217121 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:51217121G>A uc002psx.1 - 4 745 c.726C>T c.(724-726)ttC>ttT p.F242F NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA. 242 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) CCCGGGCCCGGAAGTCAATGT 0.667000 44 13 0 0 0.00136819 0 0 HCN1 348980 broad.mit.edu 37 5 45303919 45303919 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:45303919C>T uc003jok.3 - 5 1425 c.1400G>A c.(1399-1401)cGg>cAg p.R467Q NM_021072 NP_066550 O60741 HCN1_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA. 467 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CACCAGTTTCCGACAGTTGAA 0.358000 46 12 0 0 0.00185496 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826237 43826237 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:43826237C>T uc010skx.2 - 20 2966 c.2966G>A c.(2965-2967)cGa>cAa p.R989Q ADAMTS20_uc001rno.1_Missense_Mutation_p.R143Q|ADAMTS20_uc001rnp.1_Missense_Mutation_p.R143Q NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 989 TSP type-1 4. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ATAAGATTCTCGAGACCTTTC 0.368000 56 14 0 0 0.000308642 0 0 TMEM82 388595 broad.mit.edu 37 1 16069534 16069534 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:16069534G>A uc001axc.3 + 2 319 c.181G>A c.(181-183)Gaa>Aaa p.E61K NM_001013641 NP_001013663 A0PJX8 TMM82_HUMAN Homo sapiens transmembrane protein 82 (TMEM82), mRNA. 61 Leu-rich. integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1) 13 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCGGCGACCCGAAAAGGAGCG 0.697000 85 23 0 0 0.00106085 0 0 CAMTA1 23261 broad.mit.edu 37 1 7797056 7797056 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:7797056C>T uc001aoi.3 + 13 3536 c.3329C>T c.(3328-3330)tCc>tTc p.S1110F CAMTA1_uc010nzv.1_Missense_Mutation_p.S197F|CAMTA1_uc001aok.4_Missense_Mutation_p.S153F|CAMTA1_uc001aoj.3_Missense_Mutation_p.S66F NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA. 1110 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GACCACTTCTCCTGTACTCCT 0.498000 T WWTR1 epitheliod hemangioendothelioma 38 5 0 0 0.00198382 0 0 PIAS3 10401 broad.mit.edu 37 1 145581490 145581490 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:145581490G>A uc001eoc.1 + 8 1162 c.1071G>A c.(1069-1071)atG>atA p.M357I PIAS3_uc001eod.1_Missense_Mutation_p.M26I NM_006099 NP_006090 Q9Y6X2 PIAS3_HUMAN Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA. 357 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ATCTACAGATGAATGAGAAGA 0.512000 81 108 0 0 0.000781405 0 0 ZBP1 81030 broad.mit.edu 37 20 56189956 56189956 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:56189956C>T uc002xyo.3 - 3 770 c.489G>A c.(487-489)acG>acA p.T163T ZBP1_uc010gjm.3_Silent_p.T163T|ZBP1_uc002xyp.3_Silent_p.T88T|ZBP1_uc010zzn.2_Silent_p.T163T NM_030776 NP_110403 Q9H171 ZBP1_HUMAN Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA. 163 cytoplasm|nucleus RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 27 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) GGCGGTAAATCGTCCATGCTT 0.552000 46 111 0 0 0.000781405 0 0 VPS13C 54832 broad.mit.edu 37 15 62253984 62253984 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:62253984G>A uc002agz.3 - 34 3803 c.3712C>T c.(3712-3714)Cgt>Tgt p.R1238C VPS13C_uc002aha.3_Missense_Mutation_p.R1195C|VPS13C_uc002ahb.2_Missense_Mutation_p.R1238C|VPS13C_uc002ahc.2_Missense_Mutation_p.R1195C NM_020821 NP_065872 Q709C8 VP13C_HUMAN Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA. 1238 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 ATGGAAACACGAAAACTCCTC 0.458000 43 19 0 0 0.00074312 0 0 FAM69A 388650 broad.mit.edu 37 1 93316481 93316481 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:93316481C>T uc001dpg.3 - 2 314 c.221G>A c.(220-222)gGg>gAg p.G74E FAM69A_uc001dpc.3_Missense_Mutation_p.G74E|FAM69A_uc010otg.2_Missense_Mutation_p.G67E|FAM69A_uc021opu.1_Missense_Mutation_p.G49E|FAM69A_uc021opv.1_Missense_Mutation_p.G29E|FAM69A_uc021opw.1_Missense_Mutation_p.G74E NM_001006605 NP_001006606 Q5T7M9 FA69A_HUMAN Homo sapiens family with sequence similarity 69, member A (FAM69A), transcript variant 1, mRNA. 74 endoplasmic reticulum membrane|integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1) 4 all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127) ACATGCAGGCCCATCAATAAC 0.338000 27 5 0 0 0.00116845 0 0 ARSE 415 broad.mit.edu 37 X 2867429 2867429 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:2867429C>T uc011mhh.2 - 6 1306 c.845G>A c.(844-846)aGa>aAa p.R282K ARSE_uc011mhi.2_Missense_Mutation_p.R203K|ARSE_uc004crc.4_Missense_Mutation_p.R257K P51690 ARSE_HUMAN Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA. 257 skeletal system development Golgi stack arylsulfatase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGTGTGGTTTCTCATCAGAAA 0.532000 3 42 0 0 0.00222228 0 0 KIF26B 55083 broad.mit.edu 37 1 245530267 245530267 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:245530267C>T uc001ibf.1 + 2 1037 c.597C>T c.(595-597)atC>atT p.I199I KIF26B_uc010pyq.1_Silent_p.I199I|KIF26B_uc010pyr.2_5'UTR NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN Homo sapiens kinesin family member 26B (KIF26B), mRNA. 199 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) AGGAGGCCATCCAGATGGTGC 0.632000 27 14 0 0 0.000308642 0 0 FOS 2353 broad.mit.edu 37 14 75747346 75747346 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:75747346G>A uc001xrn.3 + 2 682 c.477G>A c.(475-477)agG>agA p.R159R FOS_uc010tva.2_Intron|FOS_uc010asi.3_Silent_p.R45R NM_005252 NP_005243 P01100 FOS_HUMAN Homo sapiens FBJ murine osteosarcoma viral oncogene homolog (FOS), mRNA. 159 DNA methylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|SMAD protein signal transduction|Toll signaling pathway|cellular response to reactive oxygen species|inflammatory response|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway R-SMAD binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112) BRCA - Breast invasive adenocarcinoma(234;0.0117) ACCGGAGGAGGGAGCTGACTG 0.453000 36 9 0 0 0.000442599 0 0 LAMC3 10319 broad.mit.edu 37 9 133962954 133962954 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:133962954C>T uc004caa.1 + 25 4420 c.4322C>T c.(4321-4323)tCc>tTc p.S1441F LAMC3_uc010mze.1_Missense_Mutation_p.S129F NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN Homo sapiens laminin, gamma 3 (LAMC3), mRNA. 1441 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CAACAGGCGTCCCAGCAGGTG 0.657000 56 14 0 0 0.00244969 0 0 ATG2A 23130 broad.mit.edu 37 11 64681835 64681835 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:64681835G>A uc001obx.3 - 1 424 c.309C>T c.(307-309)ctC>ctT p.L103L ATG2A_uc010rnt.1_Silent_p.L103L NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA. 103 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GCTGCAAGGTGAGCTGGAGGC 0.711000 5 6 0 0 0.00198382 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130275995 130275995 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr11:130275995G>A uc001qgg.4 - 8 2486 c.2128C>T c.(2128-2130)Cca>Tca p.P710S ADAMTS8_uc001qgf.3_Missense_Mutation_p.P191S NM_007037 NP_008968 Q9UP79 ATS8_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA. 710 Spacer. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GCACCAGCTGGGATGGTGACA 0.552000 28 23 0 0 0.00278032 0 0 ASMT 438 broad.mit.edu 37 X 1752114 1752115 + Missense_Mutation DNP CC AA AA TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:1752114_1752115CC>AA uc004cqd.3 + 7 934_935 c.718_719CC>AA c.(718-720)cca>AAa p.P240K ASMT_uc010ncy.3_Missense_Mutation_p.P240K|ASMT_uc004cqe.3_Intron NM_004043 NP_004034 P46597 HIOM_HUMAN Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA. 212 melatonin biosynthetic process|translation cytosol S-methyltransferase activity|acetylserotonin O-methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TTTTGACATCCCAGAAGTGGTG 0.530000 305 11 0 0 6.4e-05 0 0 C6orf221 154288 broad.mit.edu 37 6 74073307 74073307 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:74073307C>T uc003pgt.4 + 2 431 c.378C>T c.(376-378)gtC>gtT p.V126V NM_001017361 NP_001017361 Q587J8 ECAT1_HUMAN Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA. 126 NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1) 19 CCCAGGATGTCGCCACTCAGA 0.617000 16 17 0 0 0.00074312 0 0 abParts 0 broad.mit.edu 37 14 106899310 106899310 + RNA SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:106899310C>T uc021ser.1 - 374 c.12318G>A Parts of antibodies, mostly variable regions. ACCAAGCCTCCCCCAGACTCC 0.562000 67 20 0 0 0.00229938 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49368804 49368804 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:49368804C>T uc002pkx.3 - 2 699 c.148G>A c.(148-150)Gat>Aat p.D50N PLEKHA4_uc010eml.3_Missense_Mutation_p.D50N NM_020904 NP_065955 Q9H4M7 PKHA4_HUMAN Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA. 50 cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) AGGTTGGGATCCCTCCTGAGC 0.577000 30 21 0 0 0.000720815 0 0 PKD2 5311 broad.mit.edu 37 4 88973229 88973229 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:88973229C>T uc003hre.3 + 6 1722 c.1635C>T c.(1633-1635)ttC>ttT p.F545F PKD2_uc011cdf.2_5'UTR|PKD2_uc011cdg.2_5'UTR|PKD2_uc011cdh.2_5'UTR NM_000297 NP_000288 Q13563 PKD2_HUMAN Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA. 545 basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) AAAATACTTTCCCCAACTTTG 0.353000 24 47 0 0 0.000781405 0 0 SZT2 23334 broad.mit.edu 37 1 43908610 43908610 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:43908610C>T uc001cjk.2 + 57 8185 c.5575C>T c.(5575-5577)Ccc>Tcc p.P1859S NM_015284 NP_056099 Q5T011 SZT2_HUMAN Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA. 2758 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GGGTCCTCTTCCCCTGGACAC 0.642000 31 33 0 0 0.0024448 0 0 PPP1R12A 4659 broad.mit.edu 37 12 80266638 80266638 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:80266638G>A uc001syz.3 - 1 585 c.318C>T c.(316-318)ggC>ggT p.G106G PPP1R12A_uc010suc.2_Silent_p.G19G|PPP1R12A_uc001sza.3_Silent_p.G106G|PPP1R12A_uc010sud.2_Silent_p.G106G|PPP1R12A_uc001szb.3_Silent_p.G106G|PPP1R12A_uc001szc.2_Silent_p.G106G NM_002480 NP_001137358 O14974 MYPT1_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 12A (PPP1R12A), transcript variant 1, mRNA. 106 contractile fiber protein binding|signal transducer activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1) 29 GTGGTATCCAGCCTTCATTAT 0.368000 50 16 0 0 0.000422831 0 0 PAK7 57144 broad.mit.edu 37 20 9561263 9561263 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:9561263C>T uc002wnl.2 - 4 1064 c.519G>A c.(517-519)atG>atA p.M173I PAK7_uc002wnk.2_Missense_Mutation_p.M173I|PAK7_uc002wnj.2_Missense_Mutation_p.M173I|PAK7_uc010gby.1_Missense_Mutation_p.M173I NM_020341 NP_817127 Q9P286 PAK7_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA. 173 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) GCTTCATTTTCATTACGTGCC 0.463000 83 43 0 0 0.000680045 0 0 APBA1 320 broad.mit.edu 37 9 72067079 72067079 + Missense_Mutation SNP C T T rs140108483 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:72067079C>T uc004ahh.2 - 8 2203 c.1927G>A c.(1927-1929)Gat>Aat p.D643N NM_001163 NP_001154 Q02410 APBA1_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA. 643 PID. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 ATCAGGTCATCGTTGTACATG 0.517000 106 53 0 0 0.000781405 0 0 RNF17 56163 broad.mit.edu 37 13 25439062 25439062 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr13:25439062G>A uc001upr.3 + 28 4068 c.4027G>A c.(4027-4029)Gga>Aga p.G1343R RNF17_uc010tde.2_Missense_Mutation_p.G1339R|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.G1282R|RNF17_uc010aac.3_Missense_Mutation_p.G535R|RNF17_uc010aad.3_Intron NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 1343 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) CTATTTTGATGGAATGTCACT 0.289000 34 40 0 0 0.00170553 0 0 NPY2R 4887 broad.mit.edu 37 4 156136174 156136174 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:156136174G>A uc003ioq.3 + 1 1572 c.1083G>A c.(1081-1083)aaG>aaA p.K361K NPY2R_uc003ior.3_Silent_p.K361K|NPY2R_uc021xtm.1_Silent_p.K361K NM_000910 NP_000901 P49146 NPY2R_HUMAN Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA. 361 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity p.K361T(1)|p.K361R(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) AGGCTAAAAAGAACCTGGAGG 0.483000 59 20 0 0 0.00188189 0 0 DSE 29940 broad.mit.edu 37 6 116757438 116757438 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:116757438C>T uc011ebg.2 + 5 1963 c.1864C>T c.(1864-1866)Cat>Tat p.H622Y DSE_uc003pws.3_Missense_Mutation_p.H603Y|DSE_uc003pwt.3_Missense_Mutation_p.H603Y|DSE_uc003pwu.3_Missense_Mutation_p.H270Y NM_013352 NP_037484 Q9UL01 DSE_HUMAN Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA. 603 dermatan sulfate biosynthetic process Golgi apparatus|endoplasmic reticulum|integral to membrane chondroitin-glucuronate 5-epimerase activity p.H603Y(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) AGATGGTGTCCATGGGGCTTT 0.488000 14 16 0 0 0.000422831 0 0 KCTD3 51133 broad.mit.edu 37 1 215793804 215793804 + Silent SNP C T T rs149998746 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:215793804C>T uc001hks.3 + 17 2586 c.2292C>T c.(2290-2292)ttC>ttT p.F764F KCTD3_uc001hkt.3_Silent_p.F762F|KCTD3_uc010pub.2_Silent_p.F662F|KCTD3_uc009xdn.3_Silent_p.F488F NM_016121 NP_057205 Q9Y597 KCTD3_HUMAN Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA. 764 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) GGGGAGGATTCCTTGGAAGAA 0.423000 64 10 0 0 0.000673444 0 0 DNAH5 1767 broad.mit.edu 37 5 13727654 13727654 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr5:13727654G>A uc003jfd.2 - 69 12037 c.11995C>T c.(11995-11997)Ctt>Ttt p.L3999F DNAH5_uc003jfc.2_Missense_Mutation_p.L167F NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3999 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GATCTAATAAGGAGAAGACGT 0.363000 Kartagener syndrome 19 23 0 0 0.00127121 0 0 PROCR 10544 broad.mit.edu 37 20 33764091 33764091 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr20:33764091C>T uc002xbt.3 + 2 627 c.443C>T c.(442-444)gCc>gTc p.A148V EDEM2_uc010zuv.1_Intron NM_006404 NP_006395 Q9UNN8 EPCR_HUMAN Homo sapiens protein C receptor, endothelial (PROCR), mRNA. 148 antigen processing and presentation|blood coagulation|immune response MHC class I protein complex|integral to plasma membrane receptor activity breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(18;0.0152) Drotrecogin alfa(DB00055) CCGGAGAGAGCCTTGTGGCAG 0.592000 36 64 0 0 0.000781405 0 0 SON 6651 broad.mit.edu 37 21 34927484 34927484 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr21:34927484C>T uc002yse.1 + 2 5996 c.5947C>T c.(5947-5949)Cgc>Tgc p.R1983C SON_uc002ysb.1_Missense_Mutation_p.R1983C|SON_uc002ysc.3_Missense_Mutation_p.R1983C|SON_uc002ysd.3_Missense_Mutation_p.R974C|SON_uc002ysf.1_Intron|SON_uc002ysg.3_Missense_Mutation_p.R974C NM_138927 NP_620305 P18583 SON_HUMAN Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA. 1983 2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|7 X 7 AA repeats of P-S-R-R-S-R-[TS]. RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 cacccccagccgccggagccg 0.711000 21 11 0 0 0.000673444 0 0 SLC5A11 115584 broad.mit.edu 37 16 24909297 24909297 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr16:24909297G>A uc002dmu.3 + 9 1104 c.873G>A c.(871-873)gtG>gtA p.V291V SLC5A11_uc002dms.3_Silent_p.V227V|SLC5A11_uc010vcd.2_Silent_p.V256V|SLC5A11_uc002dmt.3_Missense_Mutation_p.D159N|SLC5A11_uc010vce.2_Silent_p.V221V|SLC5A11_uc010bxt.3_Silent_p.V227V NM_052944 NP_443176 Q8WWX8 SC5AB_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA. 291 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) TTTTCCAGGTGATTGTCCAGC 0.502000 132 50 0 0 0.000781405 0 0 KIAA1462 57608 broad.mit.edu 37 10 30318758 30318758 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr10:30318758G>A uc009xle.2 - 2 456 c.319C>T c.(319-321)Ccc>Tcc p.P107S KIAA1462_uc001iux.3_Missense_Mutation_p.P107S|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_5'UTR NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 107 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CCAGTCGGGGGATGAGAGGAC 0.532000 20 13 0 0 0.00136819 0 0 OR6C75 390323 broad.mit.edu 37 12 55759806 55759806 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:55759806G>A uc010spk.2 + 0 912 c.912G>A c.(910-912)caG>caA p.Q304Q NM_001005497 NP_001005497 A6NL08 O6C75_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA. 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 GCATGGTCCAGAAGATGATTT 0.388000 36 8 0 0 0.000442599 0 0 KCNK5 8645 broad.mit.edu 37 6 39158950 39158950 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:39158950C>T uc003oon.3 - 4 1580 c.1216G>A c.(1216-1218)Gac>Aac p.D406N NM_003740 NP_003731 O95279 KCNK5_HUMAN Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA. 406 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 TCCTGGGCGTCCCATGGCTCG 0.627000 41 16 0 0 0.00074312 0 0 MUC16 94025 broad.mit.edu 37 19 9085456 9085456 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:9085456G>A uc002mkp.3 - 0 6563 c.6359C>T c.(6358-6360)aCt>aTt p.T2120I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2120 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 AGTGTTCAAAGTACTCGCGGC 0.488000 72 83 0 0 0.000781405 0 0 MYH6 4624 broad.mit.edu 37 14 23855828 23855828 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:23855828G>A uc001wjv.3 - 32 4726 c.4655C>T c.(4654-4656)tCc>tTc p.S1552F NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 1552 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GTGCTCCAGGGAGGCCTGGGA 0.632000 63 24 0 0 0.00229938 0 0 SCN11A 11280 broad.mit.edu 37 3 38966958 38966958 + Silent SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:38966958G>A uc021wvy.1 - 4 859 c.660C>T c.(658-660)ccC>ccT p.P220P NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 220 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AGGTACGCAGGGGCAATAGTT 0.463000 38 10 0 0 0.000673444 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94879550 94879550 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:94879550C>T uc003unp.3 + 8 2595 c.2313C>T c.(2311-2313)atC>atT p.I771I PPP1R9A_uc010lfj.3_Silent_p.I793I|PPP1R9A_uc011kif.2_Silent_p.I771I|PPP1R9A_uc003unq.3_Silent_p.I771I|PPP1R9A_uc011kig.2_Silent_p.I771I NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA. 771 Interacts with TGN38 (By similarity). cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) AGAAGTTGATCAAGGATTTTC 0.353000 HNSCC(28;0.073) 14 34 0 0 0.000814825 0 0 SERPINE1 5054 broad.mit.edu 37 7 100771899 100771899 + Silent SNP A C C TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:100771899A>C uc003uxt.3 + 1 373 c.225A>C c.(223-225)ggA>ggC p.G75G SERPINE1_uc011kkj.2_Silent_p.G60G|SERPINE1_uc003uxu.2_5'Flank NM_000602 NP_000593 P05121 PAI1_HUMAN Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA. 75 G -> V (in Ref. 7; CAA31208). angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity p.G75R(1) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) CAACAGGAGGAGAAACCCAGC 0.577000 21 19 0 0 0.000958276 0 0 GPR35 2859 broad.mit.edu 37 2 241569594 241569594 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:241569594C>T uc010fzi.2 + 5 1190 c.318C>T c.(316-318)ttC>ttT p.F106F GPR35_uc010fzh.2_Silent_p.F106F|GPR35_uc021vze.1_Silent_p.F75F|GPR35_uc002vzs.2_Silent_p.F75F NM_001195381 NP_001182310 Q9HC97 GPR35_HUMAN Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA. 75 integral to plasma membrane G-protein coupled receptor activity p.F75F(1) NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 17 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;5.29e-32)|all cancers(36;1.38e-29)|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;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) CCTTGCCCTTCGTGCTGCACT 0.627000 41 32 0 0 0.000692331 0 0 FGD5 152273 broad.mit.edu 37 3 14939518 14939518 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:14939518C>T uc003bzc.3 + 5 3092 c.2982C>T c.(2980-2982)atC>atT p.I994I FGD5_uc011avk.2_Silent_p.I994I|FGD5_uc003bzd.3_Silent_p.I72I NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA. 994 DH. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape Golgi apparatus|cytoskeleton|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 CCACTCACATCCTGCAGTTCG 0.602000 78 35 0 0 0.00128727 0 0 GAS2L3 283431 broad.mit.edu 37 12 101005900 101005900 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:101005900C>T uc001thu.3 + 5 652 c.426C>T c.(424-426)ctC>ctT p.L142L GAS2L3_uc009zty.3_Silent_p.L142L|GAS2L3_uc001thv.3_Silent_p.L38L NM_174942 NP_777602 Q86XJ1 GA2L3_HUMAN Homo sapiens growth arrest-specific 2 like 3 (GAS2L3), mRNA. 142 CH. cell cycle arrest endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 AAACTTACCTCTTTGAATCTG 0.383000 68 26 0 0 0.00127121 0 0 ELTD1 64123 broad.mit.edu 37 1 79387305 79387305 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:79387305G>A uc001diq.4 - 8 1406 c.1250C>T c.(1249-1251)cCt>cTt p.P417L NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA. 417 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TACAATGGAAGGACCAGAGGA 0.358000 15 7 0 0 0.000157383 0 0 KCNJ18 100134444 broad.mit.edu 37 17 21318927 21318927 + Silent SNP C T T rs142326096 TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:21318927C>T uc021tss.1 + 2 643 c.273C>T c.(271-273)ttC>ttT p.F91F KCNJ18_uc002gyv.1_Silent_p.F91F|KCNJ18_uc021tst.1_Silent_p.F91F NM_001194958 NP_001181887 B7U540 IRK18_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA. 91 integral to membrane inward rectifier potassium channel activity CGCTGGCCTTCCTTGCCTCCT 0.622000 34 6 0 0 0.00116845 0 0 GPR116 221395 broad.mit.edu 37 6 46849839 46849839 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr6:46849839C>T uc003oyo.3 - 6 907 c.618G>A c.(616-618)cgG>cgA p.R206R GPR116_uc003oyp.3_Silent_p.R206R|GPR116_uc003oyq.3_Silent_p.R206R|GPR116_uc010jzi.1_5'Flank|GPR116_uc003oyr.2_Silent_p.R206R NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 206 SEA. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.F205S(1) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) CGTAACCCTTCCGGAACTGAA 0.368000 44 30 0 0 0.00209593 0 0 MGAM 8972 broad.mit.edu 37 7 141759342 141759342 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:141759342G>A uc003vwy.3 + 31 3944 c.3890G>A c.(3889-3891)gGg>gAg p.G1297E NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1297 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) AAGTTTGCTGGGTTTCCAGCT 0.557000 33 55 0 0 0.000781405 0 0 FRMPD1 22844 broad.mit.edu 37 9 37729769 37729769 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr9:37729769C>T uc004aag.1 + 7 701 c.657C>T c.(655-657)atC>atT p.I219I FRMPD1_uc004aah.1_Silent_p.I219I|FRMPD1_uc011lqm.2_Silent_p.I41I|FRMPD1_uc011lqn.2_Silent_p.I88I NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA. 219 FERM. 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) TCCGAAGTATCGAGTACTTTG 0.567000 74 26 0 0 0.000720815 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656217 40656217 + Missense_Mutation SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr2:40656217C>T uc002rrx.3 - 0 1228 c.1204G>A c.(1204-1206)Gaa>Aaa p.E402K SLC8A1_uc002rry.3_Missense_Mutation_p.E402K|SLC8A1_uc002rsb.2_Missense_Mutation_p.E402K|SLC8A1_uc002rrz.3_Missense_Mutation_p.E402K|SLC8A1_uc002rsa.3_Missense_Mutation_p.E402K|SLC8A1_uc002rsd.4_Missense_Mutation_p.E402K|SLC8A1_uc010fan.1_Missense_Mutation_p.E402K|SLC8A1_uc002rsc.1_Missense_Mutation_p.E402K NM_021097 NP_066920 P32418 NAC1_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA. 402 Calx-beta 1. cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GGGTCATTTTCAGTCACTTCA 0.483000 27 13 0 0 0.000308642 0 0 TCRA 0 broad.mit.edu 37 14 22989412 22989412 + Missense_Mutation SNP G A A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr14:22989412G>A uc010ajj.1 + 2 479 c.332G>A c.(331-333)gGa>gAa p.G111E TCRA_uc001wbw.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TCRA_uc001wdv.4_Intron|TCRA_uc001wec.3_Intron|TCRA_uc001wee.4_Intron|TCRA_uc010tmt.1_Intron|TCRA_uc010ajv.1_Intron|TCRA_uc001weg.2_Intron|TCRA_uc001wei.3_Intron|TCRA_uc001wej.3_Intron|TCRA_uc001wek.3_Intron|TCRA_uc001wel.3_Intron|TCRA_uc001wem.4_Intron|TCRA_uc001wen.2_Intron|TCRA_uc001weo.2_Intron|TCRA_uc001wep.3_Intron|TCRA_uc001weq.3_Intron|TCRA_uc021rqa.1_Intron|TCRA_uc021rqb.1_Intron|TCRA_uc001wet.3_Intron|TCRA_uc001weu.3_Intron|TCRA_uc001wev.3_Intron|TCRA_uc010tmv.2_Intron|TCRA_uc001wez.2_Intron|TCRA_uc010ajx.1_Intron|TCRA_uc001wfb.2_Intron|TCRA_uc021rqh.1_Intron|TCRA_uc001wfd.1_Intron|TCRA_uc001wfe.3_Intron|TCRA_uc001wfg.2_Intron|TCRA_uc001wfh.1_Intron|TCRA_uc001wfi.2_Intron|TCRA_uc001wfk.3_Intron|TCRA_uc001wfl.3_Intron|TCRA_uc010ajy.2_Intron|TCRA_uc001wfn.3_Intron|TCRA_uc001wfo.2_Non-coding_Transcript|TCRA_uc001wfp.3_Intron|TCRA_uc001wfq.2_Intron|TCRA_uc001wfr.1_Non-coding_Transcript|TCRA_uc010ajz.1_Non-coding_Transcript|TCRA_uc021rql.1_5'Flank|TCRA_uc001wfs.2_5'Flank Homo sapiens mRNA for T cell receptor alpha variable 26, partial cds, clone: SEB 29. AACCAGGGAGGAAAGCTTATC 0.423000 36 41 0 0 0.000781405 0 0 NACC1 112939 broad.mit.edu 37 19 13246315 13246315 + Silent SNP C T T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:13246315C>T uc002mwm.3 + 1 462 c.294C>T c.(292-294)ttC>ttT p.F98F NM_052876 NP_443108 Q96RE7 NACC1_HUMAN Homo sapiens nucleus accumbens associated 1, BEN and BTB (POZ) domain containing (NACC1), mRNA. 98 negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent cytoplasm|nuclear body endometrium(3)|large_intestine(2)|lung(3)|skin(1) 9 GCGACCAGTTCCTGCTCATGT 0.627000 23 14 0 0 0.00244969 0 0 DHX9 1660 broad.mit.edu 37 1 182845333 182845333 + Frame_Shift_Del DEL T - - TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:182845333delT uc001gpr.3 + 16 2139 c.1964delT c.(1963-1965)gttfs p.V655fs DHX9_uc001gps.3_Frame_Shift_Del_p.V441fs NM_001357 NP_001348 Q08211 DHX9_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA. 655 Helicase C-terminal. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 GCTGTGTTGGTTTTTTTGCCT 0.378 --- 243 --- --- 7 --- PTPN14 5784 broad.mit.edu 37 1 214557011 214557019 + In_Frame_Del DEL CTCCCGGAG - - rs143375730 byFrequency TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:214557011_214557019delCTCCCGGAG uc001hkk.2 - 12 2832_2840 c.2179_2187delCTCCGGGAG c.(2179-2187)ctccgggagdel p.LRE727del PTPN14_uc021piy.1_In_Frame_Del_p.LRE491del|PTPN14_uc010pty.2_In_Frame_Del_p.LRE628del NM_005401 NP_005392 Q15678 PTN14_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA. 727 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) ACTCCATCTTCTCCCGGAGCATGGGGATC 0.617 --- 67 --- --- 9 --- PCNXL2 80003 broad.mit.edu 37 1 233121997 233121997 + Frame_Shift_Del DEL G - - TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr1:233121997delG uc001hvl.2 - 32 6316 c.6081delC c.(6079-6081)tccfs p.S2027fs PCNXL2_uc001hvk.1_Frame_Shift_Del_p.S679fs|PCNXL2_uc001hvm.1_Non-coding_Transcript NM_014801 NP_055616 A6NKB5 PCX2_HUMAN Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA. 2027 Ser-rich. 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) AGCTCAGGGTGGAGCTGGTGG 0.652 --- 4 --- --- 2 --- RFTN1 23180 broad.mit.edu 37 3 16419362 16419362 + Frame_Shift_Del DEL T - - TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr3:16419362delT uc003cay.3 - 4 971 c.689delA c.(688-690)gagfs p.E230fs RFTN1_uc010hes.3_Frame_Shift_Del_p.E194fs NM_015150 NP_055965 Q14699 RFTN1_HUMAN Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA. 230 plasma membrane p.G229E(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 38 GAGGGGCACCTCCCCTCTGGG 0.637 --- 22 --- --- 23 --- NMU 10874 broad.mit.edu 37 4 56465332 56465337 + In_Frame_Del DEL CTTCTT - - TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr4:56465332_56465337delCTTCTT uc003hbc.3 - 8 607_612 c.501_506delAAGAAG c.(499-507)ggaagaagg>ggg p.RR168del NMU_uc003hbd.1_Non-coding_Transcript|NMU_uc010igv.1_Non-coding_Transcript|NMU_uc010igw.1_In_Frame_Del_p.RR83del|NMU_uc010igx.1_Non-coding_Transcript NM_006681 NP_006672 P48645 NMU_HUMAN Homo sapiens neuromedin U (NMU), mRNA. 168 neuropeptide signaling pathway extracellular region lung(3)|ovary(1)|urinary_tract(1) 5 Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.103) LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559) LUSC - Lung squamous cell carcinoma(721;0.0115) CCCTGCTGACCTTCTTCCATTCCGTG 0.306 --- 27 --- --- 7 --- PCLO 27445 broad.mit.edu 37 7 82545344 82545344 + Frame_Shift_Del DEL A - - TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr7:82545344delA uc003uhx.2 - 6 12247 c.11958delT c.(11956-11958)cttfs p.L3986fs PCLO_uc003uhv.2_Frame_Shift_Del_p.L3986fs|PCLO_uc010lec.3_Frame_Shift_Del_p.L951fs NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3917 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GTGCTATCATAAGGGGTTGGT 0.398 --- 175 --- --- 80 --- CACNA2D4 93589 broad.mit.edu 37 12 1995401 1995401 + Frame_Shift_Del DEL A - - TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr12:1995401delA uc021qsx.1 - 7 1212 c.981delT c.(979-981)attfs p.I327fs CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Intron NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA. 327 VWFA. I -> V (in dbSNP:rs10735005). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CTATGATATTAATGAAGTCAT 0.493 --- 29 --- --- 31 --- FBN1 2200 broad.mit.edu 37 15 48797337 48797339 + In_Frame_Del DEL GTT - - TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr15:48797337_48797339delGTT uc001zwx.2 - 15 2238_2240 c.1843_1845delAAC c.(1843-1845)aacdel p.N615del NM_000138 NP_000129 P35555 FBN1_HUMAN Homo sapiens fibrillin 1 (FBN1), mRNA. 615 EGF-like 10; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TTTCACACTCGTTAATGTCTGTG 0.424 --- 32 --- --- 11 --- TP53 7157 broad.mit.edu 37 17 7578384 7578401 + In_Frame_Del DEL GCAGCGCTCATGGTGGGG - - rs68130327 by1000genomes TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr17:7578384_7578401delGCAGCGCTCATGGTGGGG uc002gim.2 - 4 723_740 c.529_546delCCCCACCATGAGCGCTGC c.(529-546)ccccaccatgagcgctgcdel p.PHHERC177del TP53_uc002gig.1_In_Frame_Del_p.PHHERC177del|TP53_uc002gih.3_In_Frame_Del_p.PHHERC177del|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_In_Frame_Del_p.PHHERC45del|TP53_uc010cnf.1_In_Frame_Del_p.PHHERC45del|TP53_uc002gii.1_In_Frame_Del_p.PHHERC45del|TP53_uc010cni.1_In_Frame_Del_p.PHHERC177del|TP53_uc010cnh.1_In_Frame_Del_p.PHHERC177del|TP53_uc002gij.2_In_Frame_Del_p.PHHERC177del|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_In_Frame_Del_p.PHHERC84del|TP53_uc002gio.2_In_Frame_Del_p.PHHERC45del|TP53_uc010vug.2_In_Frame_Del_p.PHHERC138del NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 177 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; 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.H179R(214)|p.H179Y(188)|p.C176F(112)|p.H179L(78)|p.C176Y(59)|p.H179Q(42)|p.R181H(42)|p.R181C(37)|p.P177L(34)|p.P177R(34)|p.H178fs*69(31)|p.H179N(30)|p.E180*(28)|p.R181P(26)|p.H179D(24)|p.P177P(20)|p.C176S(19)|p.P177_C182delPHHERC(16)|p.C182S(16)|p.P177S(16)|p.H178Y(16)|p.C176R(12)|p.H178P(12)|p.H178D(12)|p.C176W(11)|p.E180K(11)|p.H178fs*3(11)|p.E180D(10)|p.H178Q(10)|p.C182*(10)|p.C176*(8)|p.0?(8)|p.C176fs*71(7)|p.C176_R181delCPHHER(6)|p.H179P(6)|p.H47Y(6)|p.P177H(6)|p.H178N(6)|p.H86Y(6)|p.R175_E180delRCPHHE(6)|p.R181L(6)|p.H179fs*68(4)|p.C176G(4)|p.H179H(4)|p.H178_S183delHHERCS(4)|p.H178H(4)|p.H47L(4)|p.P177fs*3(4)|p.C182R(4)|p.C182Y(4)|p.C182C(4)|p.H86L(4)|p.R181R(4)|p.R174fs*24(3)|p.C176fs*5(3)|p.E180G(2)|p.E180fs*67(2)|p.E180Q(2)|p.E171_H179delEVVRRCPHH(2)|p.H178fs*6(2)|p.H47Q(2)|p.H47R(2)|p.R174fs*1(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H178L(2)|p.H179del(2)|p.P177fs*4(2)|p.E180>DGRCPHQ(2)|p.H178del(2)|p.E180_S183del(2)|p.P177T(2)|p.R49C(2)|p.R175_H178>X(2)|p.C176_P177delCP(2)|p.R88C(2)|p.P177fs*69(2)|p.C182fs*4(2)|p.R174_E180>K(2)|p.P177I(2)|p.H86R(2)|p.P177_E180delPHHE(2)|p.H86Q(2)|p.C182fs*65(2)|p.H85fs*69(2)|p.C176fs*65(2)|p.R181G(2)|p.C176fs*68(2)|p.R181Y(2)|p.R174_H178>S(2)|p.R181>XXXXXXX(2)|p.H46fs*>45(2)|p.H178_H179>QY(2)|p.V173fs*59(2)|p.P177_H179delPHH(2)|p.E180fs*6(2)|p.V173fs*69(1)|p.R174fs*70(1)|p.P45R(1)|p.H47D(1)|p.R174fs*3(1)|p.H47N(1)|p.V157_C176del20(1)|p.H179fs*?(1)|p.E171fs*1(1)|p.H168fs*69(1)|p.C176del(1)|p.E48D(1)|p.K164_P219del(1)|p.R49P(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R42fs*24(1)|p.R88P(1)|p.P177_C182del(1)|p.E87D(1)|p.H85_S90delHHERCS(1)|p.H86D(1)|p.H86N(1)|p.H46D(1)|p.H85D(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.?(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.C176fs*6(1)|p.P84R(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) CGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTC 0.638 111 """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) --- 11 --- --- 11 --- KIAA0355 9710 broad.mit.edu 37 19 34840010 34840011 + Frame_Shift_Del DEL TC - - TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chr19:34840010_34840011delTC uc002nvd.4 + 11 3636_3637 c.2777_2778delTC c.(2776-2778)ttcfs p.F926fs NM_014686 NP_055501 O15063 K0355_HUMAN Homo sapiens KIAA0355 (KIAA0355), mRNA. 926 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) GACAGCTTGTTCTCCATGTTTT 0.559 --- 57 --- --- 11 --- TFE3 7030 broad.mit.edu 37 X 48888962 48888980 + Frame_Shift_Del DEL GGCTCTCCAGGTCTTTGGA - - TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a626c740-1caf-4fb9-9fd0-cc54b541f21f 733ad89a-8fd6-4293-8a62-ab83f1d1e8c7 g.chrX:48888962_48888980delGGCTCTCCAGGTCTTTGGA uc004dmb.3 - 8 1454_1472 c.1216_1234delTCCAAAGACCTGGAGAGCC c.(1216-1236)tccaaagacctggagagccggfs p.S406fs TFE3_uc004dmc.3_Frame_Shift_Del_p.S301fs NM_006521 NP_006512 P19532 TFE3_HUMAN Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA. 406 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 GATCGCTGCCGGCTCTCCAGGTCTTTGGAGCGCTGCTGC 0.607 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" --- 3 --- --- 5 ---