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 KIAA1751 85452 broad.mit.edu 37 1 1900265 1900265 + Missense_Mutation SNP C C G TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr1:1900265C>G uc001aim.1 - 10 1210 c.1054G>C c.(1054-1056)Gag>Cag p.E352Q KIAA1751_uc009vkz.1_Missense_Mutation_p.E352Q NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN Homo sapiens KIAA1751 (KIAA1751), mRNA. 352 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) TGCTCCTCCTCAAAGGCCCTG 0.597 MMEL1 79258 broad.mit.edu 37 1 2527458 2527458 + Missense_Mutation SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr1:2527458G>A uc001ajy.2 - 14 1704 c.1490C>T c.(1489-1491)gCg>gTg p.A497V MMEL1_uc009vlg.1_Non-coding_Transcript NM_033467 NP_258428 Q495T6 MMEL1_HUMAN Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA. 497 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) CTTCTCCTGCGCCTTCTTCTT 0.632 KLHDC7A 127707 broad.mit.edu 37 1 18809060 18809060 + Missense_Mutation SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr1:18809060G>A uc001bax.3 + 0 1637 c.1585G>A c.(1585-1587)Gtg>Atg p.V529M KLHDC7A_uc009vpg.3_Missense_Mutation_p.V311M NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA. 529 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CCCCGAGGCCGTGTCCCGGGG 0.662 TXLNA 200081 broad.mit.edu 37 1 32650218 32650218 + Splice_Site SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr1:32650218G>A uc001bui.3 + 4 662 c.597_splice c.e4+1 p.L199_splice TXLNA_uc001buj.3_Splice_Site_p.L199_splice NM_175852 NP_787048 P40222 TXLNA_HUMAN Homo sapiens taxilin alpha (TXLNA), mRNA. 199 cell proliferation|exocytosis cytoplasm|extracellular region cytokine activity|high molecular weight B cell growth factor receptor binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) TGCTGAACTGGTCAGTTCCCC 0.537 EPHA10 284656 broad.mit.edu 37 1 38227170 38227170 + Missense_Mutation SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr1:38227170G>A uc009vvi.3 - 2 843 c.757C>T c.(757-759)Cgc>Tgc p.R253C EPHA10_uc001cbw.4_Missense_Mutation_p.R253C NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA. 253 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) CAGTGCATGCGTGGGGGGCTG 0.692 MACF1 23499 broad.mit.edu 37 1 39913453 39913453 + Silent SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr1:39913453G>A uc021olw.1 + 46 15180 c.15180G>A c.(15178-15180)caG>caA p.Q5060Q MACF1_uc021ols.1_Silent_p.Q4555Q|MACF1_uc021olt.1_Silent_p.Q4558Q NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 6626 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|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) GCCAAAAGCAGGATGTTGTTC 0.438 SPAG17 200162 broad.mit.edu 37 1 118548128 118548128 + Missense_Mutation SNP T T C TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr1:118548128T>C uc001ehk.2 - 31 4753 c.4685A>G c.(4684-4686)aAg>aGg p.K1562R SPAG17_uc021osr.1_Missense_Mutation_p.K72R NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 1562 cilium|flagellar axoneme|microtubule p.K1562R(2) 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) CTGCTCACGCTTTTGAAAAGG 0.448 HAO2 51179 broad.mit.edu 37 1 119925581 119925581 + Missense_Mutation SNP G G T TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr1:119925581G>T uc001ehr.1 + 2 307 c.175G>T c.(175-177)Gac>Tac p.D59Y HAO2_uc001ehq.1_Missense_Mutation_p.D59Y NM_016527 NP_057611 Q9NYQ3 HAOX2_HUMAN Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA. 59 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity p.V58V(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) GTCTGAGGTGGACACCAGAAC 0.552 ZNF697 90874 broad.mit.edu 37 1 120165681 120165681 + Missense_Mutation SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr1:120165681G>A uc001ehy.1 - 2 1399 c.1285C>T c.(1285-1287)Cgc>Tgc p.R429C NM_001080470 NP_001073939 Q5TEC3 ZN697_HUMAN Homo sapiens zinc finger protein 697 (ZNF697), mRNA. 429 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577) GAGTGCGTGCGCTTGTGCGTG 0.667 NOTCH2 4853 broad.mit.edu 37 1 120512133 120512133 + Splice_Site SNP C C T TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr1:120512133C>T uc001eik.3 - 6 1405 c.1108_splice c.e6+1 p.G370_splice NOTCH2_uc001eil.3_Splice_Site_p.G370_splice|NOTCH2_uc021osy.1_Splice_Site_p.G331_splice|NOTCH2_uc001eim.4_Splice_Site_p.G287_splice NM_024408 NP_077719 Q04721 NOTC2_HUMAN Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA. 370 EGF-like 9; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CTGCTACCTACCTGCCTTCCC 0.537 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome BCL9 607 broad.mit.edu 37 1 147091673 147091673 + Missense_Mutation SNP C C G TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr1:147091673C>G uc001epq.3 + 7 2452 c.1712C>G c.(1711-1713)tCt>tGt p.S571C BCL9_uc010ozr.1_Missense_Mutation_p.S497C NM_004326 NP_004317 O00512 BCL9_HUMAN Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA. 571 Pro-rich. Wnt receptor signaling pathway nucleus protein binding p.S571F(1) breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) ATGATAAACTCTGAAATGGAA 0.547 T """IGH@, IGL@""" B-ALL HRNR 388697 broad.mit.edu 37 1 152193180 152193180 + Missense_Mutation SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr1:152193180G>A uc001ezt.1 - 2 1001 c.925C>T c.(925-927)Cac>Tac p.H309Y NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 309 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCGGACGTGGCTAGGAGAC 0.602 ZBTB7B 51043 broad.mit.edu 37 1 154987218 154987218 + Missense_Mutation SNP C C T TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr1:154987218C>T uc001fgj.4 + 4 469 c.184C>T c.(184-186)Cgc>Tgc p.R62C ZBTB7B_uc009wpa.3_Missense_Mutation_p.R28C|ZBTB7B_uc001fgk.4_Missense_Mutation_p.R28C|ZBTB7B_uc010peq.2_Missense_Mutation_p.R62C|ZBTB7B_uc001fgl.4_Missense_Mutation_p.R28C NM_015872 NP_056956 O15156 ZBT7B_HUMAN Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA. 28 BTB. cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CAATGAGCAGCGCCAGCTGGG 0.592 FAM78B 149297 broad.mit.edu 37 1 166039701 166039701 + Missense_Mutation SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr1:166039701G>A uc021pef.1 - 1 1036 c.563C>T c.(562-564)aCc>aTc p.T188I FAM78B_uc010plc.2_Non-coding_Transcript|FAM78B_uc021pee.1_Intron|FAM78B_uc001gdq.3_5'Flank NM_001017961 NP_001017961 Q5VT40 FA78B_HUMAN Homo sapiens family with sequence similarity 78, member B (FAM78B), mRNA. 188 central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155) CCACTTGATGGTCTGCAGAAT 0.572 URB2 9816 broad.mit.edu 37 1 229772130 229772130 + Silent SNP C C A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr1:229772130C>A uc001hts.1 + 3 1906 c.1770C>A c.(1768-1770)acC>acA p.T590T URB2_uc009xfd.1_Silent_p.T590T NM_014777 NP_055592 Q14146 URB2_HUMAN Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA. 590 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 TCCCGGACACCCCAGGCCCAG 0.597 ZNF365 22891 broad.mit.edu 37 10 64415230 64415230 + Missense_Mutation SNP G G A rs41306564 TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr10:64415230G>A uc001jmc.2 + ZNF365_uc001jmd.1_Missense_Mutation_p.R77H|ZNF365_uc001jme.1_Intron|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_Intron NM_199451 NP_955523 Q70YC4 TALAN_HUMAN Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA. breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) CAAGTTTGGCGTTGGCAGTCA 0.507 PIPSL 266971 broad.mit.edu 37 10 95720191 95720191 + Silent SNP A A C TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr10:95720191A>C uc009xuj.2 - 0 1482 c.963T>G c.(961-963)ggT>ggG p.G321G Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA. CCATGGTGCCACCCCGTCGAG 0.517 SMC3 9126 broad.mit.edu 37 10 112350849 112350851 + In_Frame_Del DEL AAC AAC - TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr10:112350849_112350851delAAC uc001kze.3 + 16 1897_1899 c.1771_1773delAAC c.(1771-1773)aacdel p.N591del NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA. 591 Flexible hinge. cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) TCTGCCTCTTAACAAGTTAGATG 0.325 HPX 3263 broad.mit.edu 37 11 6462111 6462111 + Missense_Mutation SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr11:6462111G>A uc001mdg.2 - 1 144 c.83_splice c.e1+1 p.P28_splice HPX_uc009yfc.2_Splice_Site|HPX_uc010rai.1_Splice_Site_p.P28_splice NM_000613 NP_000604 P02790 HEMO_HUMAN Homo sapiens hemopexin (HPX), mRNA. 28 O-glycosylated at one, two and three sites. 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) CTTTACTCACGGAGGAAGAGG 0.572 DHCR7 1717 broad.mit.edu 37 11 71146770 71146770 + Missense_Mutation SNP A A T TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr11:71146770A>T uc001oqk.3 - 8 1329 c.1079T>A c.(1078-1080)cTg>cAg p.L360Q DHCR7_uc001oql.3_Missense_Mutation_p.L360Q NM_001163817 NP_001351 Q9UBM7 DHCR7_HUMAN Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA. 360 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) GCGGCGGAACAGGTCCTTCTG 0.662 Smith-Lemli-Opitz syndrome C11orf67 28971 broad.mit.edu 37 11 77580777 77580777 + Missense_Mutation SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr11:77580777G>A uc001oyq.3 + 2 240 c.142G>A c.(142-144)Ggt>Agt p.G48S C11orf67_uc001oyp.3_Missense_Mutation_p.G48S|C11orf67_uc001oyr.1_Missense_Mutation_p.G48S NM_024684 NP_078960 Q9H7C9 CK067_HUMAN Homo sapiens chromosome 11 open reading frame 67 (C11orf67), mRNA. 48 stomach(2) 2 all_cancers(14;5.69e-19)|all_epithelial(13;2.15e-21)|Breast(9;1.16e-15)|Ovarian(111;0.152) Epithelial(5;1.37e-49)|all cancers(3;5.58e-46)|BRCA - Breast invasive adenocarcinoma(5;7.26e-31) GCATTCTCCTGGTGTGCAGCC 0.458 CLMP 79827 broad.mit.edu 37 11 122945484 122945484 + Silent SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr11:122945484G>A uc001pyt.3 - 5 1106 c.747C>T c.(745-747)ttC>ttT p.F249F NM_024769 NP_079045 Q9H6B4 CLMP_HUMAN Homo sapiens CXADR-like membrane protein (CLMP), mRNA. 249 integral to membrane|tight junction endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 14 ACACCAAGAGGAAAATCAGCA 0.443 NCAPD3 23310 broad.mit.edu 37 11 134048751 134048751 + Silent SNP C C T TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr11:134048751C>T uc001qhd.1 - 20 3246 c.2640G>A c.(2638-2640)caG>caA p.Q880Q NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript NM_015261 NP_056076 P42695 CNDD3_HUMAN Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA. 880 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) CCAGGACGGACTGAATCAGAA 0.468 PLBD1 79887 broad.mit.edu 37 12 14695158 14695158 + Missense_Mutation SNP C C T TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr12:14695158C>T uc001rcc.1 - 2 564 c.403G>A c.(403-405)Gtg>Atg p.V135M NM_024829 NP_079105 Q6P4A8 PLBL1_HUMAN Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA. 135 lipid catabolic process extracellular region hydrolase activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 AAATCCTGCACTTTATCCATG 0.343 ABCC9 10060 broad.mit.edu 37 12 21997449 21997449 + Missense_Mutation SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr12:21997449G>A uc001rfh.3 - 25 3303 c.3283C>T c.(3283-3285)Cgc>Tgc p.R1095C ABCC9_uc001rfi.1_Missense_Mutation_p.R1095C NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 1095 ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GCTGAAAAGCGATTGAGAATC 0.353 PKP2 5318 broad.mit.edu 37 12 32977045 32977045 + Silent SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr12:32977045G>A uc001rlj.4 - 7 1855 c.1740C>T c.(1738-1740)gaC>gaT p.D580D PKP2_uc001rlk.4_Silent_p.D536D|PKP2_uc010skj.2_Silent_p.D536D NM_004572 NP_004563 Q99959 PKP2_HUMAN Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA. 580 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) CAATGAGTCCGTCACATCTTC 0.398 GRIP1 23426 broad.mit.edu 37 12 66786464 66786464 + Missense_Mutation SNP C C G TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr12:66786464C>G uc001stk.3 - 16 2347 c.2106G>C c.(2104-2106)caG>caC p.Q702H GRIP1_uc010sta.1_Missense_Mutation_p.Q646H|GRIP1_uc001stj.3_Missense_Mutation_p.Q484H|GRIP1_uc001stm.3_Missense_Mutation_p.Q702H|GRIP1_uc001stl.1_Missense_Mutation_p.Q594H NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA. 754 PDZ 6. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) CACCATCTGTCTGTTTCTTAA 0.413 USP30 84749 broad.mit.edu 37 12 109509449 109509449 + Silent SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr12:109509449G>A uc010sxi.2 + 4 617 c.513G>A c.(511-513)tcG>tcA p.S171S USP30_uc001tnu.4_Silent_p.S140S NM_032663 NP_116052 Q70CQ3 UBP30_HUMAN Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA. 171 ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2) 28 TCATTACCTCGTCATTGGAAG 0.463 TMEM120B 144404 broad.mit.edu 37 12 122209423 122209423 + Missense_Mutation SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr12:122209423G>A uc001ubc.4 + 7 791 c.647G>A c.(646-648)cGc>cAc p.R216H TMEM120B_uc009zxh.3_Missense_Mutation_p.R216H NM_001080825 NP_001074294 A0PK00 T120B_HUMAN Homo sapiens transmembrane protein 120B (TMEM120B), mRNA. 216 integral to membrane p.R216C(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6) 11 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238) CAGAAGTTTCGCAACCAGTTC 0.488 LAMP1 3916 broad.mit.edu 37 13 113964010 113964010 + Missense_Mutation SNP C C A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr13:113964010C>A uc001vtm.1 + 2 517 c.236C>A c.(235-237)tCc>tAc p.S79Y LAMP1_uc010tka.1_Missense_Mutation_p.S79Y NM_005561 NP_005552 P11279 LAMP1_HUMAN Homo sapiens lysosomal-associated membrane protein 1 (LAMP1), mRNA. 79 First lumenal domain. endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2) 16 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) AACCGCAGCTCCTGTGGAAAA 0.443 OR4K1 79544 broad.mit.edu 37 14 20404274 20404274 + Missense_Mutation SNP C C T TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr14:20404274C>T uc001vwj.2 + 0 508 c.449C>T c.(448-450)gCg>gTg p.A150V NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA. 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A150A(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) ATTTCCTGGGCGGTGGGCGTT 0.463 TGM5 9333 broad.mit.edu 37 15 43525396 43525396 + Missense_Mutation SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr15:43525396G>A uc001zrd.2 - 12 2164 c.2156C>T c.(2155-2157)gCa>gTa p.A719V TGM5_uc001zrc.2_Missense_Mutation_p.A376V|TGM5_uc001zre.2_Missense_Mutation_p.A637V NM_201631 NP_963925 O43548 TGM5_HUMAN Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA. 719 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) AATTTATAATGCAAAGTCTAC 0.438 BTBD1 53339 broad.mit.edu 37 15 83725179 83725179 + Missense_Mutation SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr15:83725179G>A uc002bjn.3 - 1 723 c.520C>T c.(520-522)Cat>Tat p.H174Y BTBD1_uc002bjo.3_Missense_Mutation_p.H174Y NM_025238 NP_079514 Q9H0C5 BTBD1_HUMAN Homo sapiens BTB (POZ) domain containing 1 (BTBD1), transcript variant 1, mRNA. 174 cytoplasmic mRNA processing body|protein complex protein binding p.H174D(2) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 10 all cancers(203;0.000186) GCCCTAAGATGTTTGGTGAGA 0.363 PKD1 5310 broad.mit.edu 37 16 2155892 2155892 + Silent SNP A A G rs149467954 by1000genomes TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr16:2155892A>G uc002cos.1 - 19 8046 c.7837T>C c.(7837-7839)Ttg>Ctg p.L2613L TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.L2613L|PKD1_uc010bse.1_5'Flank NM_001009944 NP_001009944 P98161 PKD1_HUMAN Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA. 2613 REJ. Missing (in ADPKD1; could be a polymorphism). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding p.L2613L(2) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 ACCAGGGCCAACGAGTACTCG 0.657 DNAH3 55567 broad.mit.edu 37 16 20999316 20999316 + Missense_Mutation SNP T T A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr16:20999316T>A uc010vbe.2 - 44 6673 c.6673A>T c.(6673-6675)Agt>Tgt p.S2225C DNAH3_uc010vbd.2_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 2225 AAA 3 (By similarity). 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) ACAATCGAACTGAAAATCTTG 0.428 KCTD19 146212 broad.mit.edu 37 16 67327795 67327795 + Missense_Mutation SNP T T C TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr16:67327795T>C uc002esu.2 - 11 1921 c.1870A>G c.(1870-1872)Acc>Gcc p.T624A KCTD19_uc002est.2_Missense_Mutation_p.T396A|KCTD19_uc010vjj.1_Missense_Mutation_p.T367A NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA. 624 voltage-gated potassium channel complex voltage-gated potassium channel activity p.E623K(1) 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) GGGTCTTTGGTTTCAGATTTC 0.532 SGSM2 9905 broad.mit.edu 37 17 2276367 2276367 + Missense_Mutation SNP A A G TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr17:2276367A>G uc002fum.4 + 15 2086 c.1909A>G c.(1909-1911)Atg>Gtg p.M637V SGSM2_uc002fun.4_Missense_Mutation_p.M592V|SGSM2_uc010vqw.2_Missense_Mutation_p.M592V|SGSM2_uc002fuo.2_3'UTR NM_014853 NP_055668 O43147 SGSM2_HUMAN Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA. 592 Rab-GAP TBC. intracellular Rab GTPase activator activity biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) CAAGAAGGAGATGGAGCAGGT 0.617 UNC45B 146862 broad.mit.edu 37 17 33491149 33491149 + Missense_Mutation SNP G G A rs143612410 TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr17:33491149G>A uc002hja.3 + 8 1212 c.1115G>A c.(1114-1116)cGc>cAc p.R372H UNC45B_uc002hjb.3_Missense_Mutation_p.R372H|UNC45B_uc002hjc.3_Missense_Mutation_p.R372H|UNC45B_uc010cto.3_Missense_Mutation_p.R372H NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA. 372 cell differentiation|muscle organ development cytosol binding p.R372C(1) 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) GACCCGGAGCGCGATCACTTC 0.532 KIF2B 84643 broad.mit.edu 37 17 51900723 51900723 + Missense_Mutation SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr17:51900723G>A uc002iua.2 + 0 485 c.329G>A c.(328-330)cGt>cAt p.R110H KIF2B_uc010wna.1_Non-coding_Transcript NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN Homo sapiens kinesin family member 2B (KIF2B), mRNA. 110 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.R110C(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 AGGGACCAGCGTACCGCCACG 0.607 ENPP7 339221 broad.mit.edu 37 17 77708908 77708908 + Missense_Mutation SNP C C T rs142610423 TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr17:77708908C>T uc002jxa.3 + 2 486 c.466C>T c.(466-468)Cgg>Tgg p.R156W NM_178543 NP_848638 Q6UWV6 ENPP7_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA. 156 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GGCTGTGACGCGGAGCCGGAA 0.592 C17orf70 80233 broad.mit.edu 37 17 79516305 79516305 + Missense_Mutation SNP C C G TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr17:79516305C>G uc002kaq.3 - 3 1403 c.1330G>C c.(1330-1332)Gcc>Ccc p.A444P C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Missense_Mutation_p.A293P NM_025161 NP_079437 Q0VG06 FP100_HUMAN Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA. 444 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) GTCATCCTGGCTGGGCCAGGC 0.592 ZNF556 80032 broad.mit.edu 37 19 2877392 2877392 + Missense_Mutation SNP C C T rs138176298 byFrequency TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr19:2877392C>T uc002lwp.1 + 3 523 c.436C>T c.(436-438)Cgg>Tgg p.R146W ZNF556_uc002lwq.3_Missense_Mutation_p.R145W NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN Homo sapiens zinc finger protein 556 (ZNF556), mRNA. 146 R -> L (in dbSNP:rs35499960). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R146R(1) endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 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) TAGTGTAAGACGGTACGAATG 0.393 MUC16 94025 broad.mit.edu 37 19 9047753 9047753 + Missense_Mutation SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr19:9047753G>A uc002mkp.3 - 4 34082 c.33878C>T c.(33877-33879)cCt>cTt p.P11293L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11295 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 GACTGTAGAAGGCATAGTGTC 0.473 SLC1A6 6511 broad.mit.edu 37 19 15082585 15082585 + Missense_Mutation SNP G G T TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr19:15082585G>T uc002naa.1 - 1 314 c.307C>A c.(307-309)Ctg>Atg p.L103M SLC1A6_uc010dzu.1_Missense_Mutation_p.L103M|SLC1A6_uc010xod.1_Missense_Mutation_p.A107D|SLC1A6_uc002nab.3_Missense_Mutation_p.L103M|SLC1A6_uc002nac.3_Missense_Mutation_p.L103M|SLC1A6_uc002nad.1_Missense_Mutation_p.L103M NM_005071 NP_005062 P48664 EAA4_HUMAN Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA. 103 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) GGTAACACCAGCATCTGCAGC 0.567 CILP2 148113 broad.mit.edu 37 19 19655518 19655518 + Missense_Mutation SNP C C T TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr19:19655518C>T uc002nmw.4 + 7 2267 c.2182C>T c.(2182-2184)Cgg>Tgg p.R728W CILP2_uc002nmv.4_Missense_Mutation_p.R722W NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA. 722 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 CGTGGAGATCCGGGAGCGGCG 0.706 FGF21 26291 broad.mit.edu 37 19 49261318 49261318 + Silent SNP A A C TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr19:49261318A>C uc002pkn.1 + 3 1043 c.471A>C c.(469-471)gcA>gcC p.A157A FUT1_uc002pkk.3_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Silent_p.A157A NM_019113 NP_061986 Q9NSA1 FGF21_HUMAN Homo sapiens fibroblast growth factor 21 (FGF21), mRNA. 157 cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import extracellular region|soluble fraction growth factor activity breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 8 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) GGGACCCTGCACCCCGAGGAC 0.682 PTOV1 53635 broad.mit.edu 37 19 50360994 50360996 + In_Frame_Del DEL CAA CAA - TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr19:50360994_50360996delCAA uc002pqf.1 + 6 929_931 c.759_761delCAA c.(757-762)gtcaac>gtc p.N255del PTOV1_uc002pqb.4_In_Frame_Del_p.N223del|PTOV1_uc002pqa.3_Non-coding_Transcript|PTOV1_uc002pqd.3_Non-coding_Transcript|PTOV1_uc002pqe.2_Non-coding_Transcript NM_017432 NP_059128 Q86YD1 PTOV1_HUMAN Homo sapiens prostate tumor overexpressed 1 (PTOV1), mRNA. 255 Interaction with FLOT1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|plasma membrane endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1) 16 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) TCCAGATCGTCAACAACAAGTTT 0.616 LILRB5 10990 broad.mit.edu 37 19 54758761 54758761 + Silent SNP C C T TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr19:54758761C>T uc010yer.1 - 5 1176 c.1065G>A c.(1063-1065)ccG>ccA p.P355P LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Silent_p.P364P|LILRB5_uc002qez.3_Silent_p.P264P|LILRB5_uc002qex.3_Silent_p.P364P|LILRB5_uc002qfa.1_Silent_p.P254P|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. 364 Ig-like C2-type 4. L -> S (in Ref. 2; BAB71361). 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) TTAGACACAGCGGGGGATGGG 0.547 TNNT1 7138 broad.mit.edu 37 19 55648558 55648558 + Missense_Mutation SNP C C T TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr19:55648558C>T uc002qjb.4 - 10 613 c.524G>A c.(523-525)cGg>cAg p.R175Q TNNT1_uc002qjc.4_Missense_Mutation_p.R175Q|TNNT1_uc002qje.4_Missense_Mutation_p.R164Q|TNNT1_uc002qjd.4_Missense_Mutation_p.R164Q NM_003283 NP_003274 P13805 TNNT1_HUMAN Homo sapiens troponin T type 1 (skeletal, slow) (TNNT1), transcript variant 1, mRNA. 175 muscle filament sliding|negative regulation of muscle contraction cytosol|troponin complex tropomyosin binding endometrium(2)|kidney(3)|lung(4)|ovary(1) 10 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.047) CCCCGTCTGCCGCTTACCACG 0.627 PNPT1 87178 broad.mit.edu 37 2 55874482 55874482 + Missense_Mutation SNP C C G TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr2:55874482C>G uc002rzf.2 - 19 1655 c.1602_splice c.e19+1 p.L534_splice NM_033109 NP_149100 Q8TCS8 PNPT1_HUMAN Homo sapiens polyribonucleotide nucleotidyltransferase 1 (PNPT1), mRNA. 534 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) ATATACTTGCCAAAATATCTG 0.308 SLC5A7 60482 broad.mit.edu 37 2 108625088 108625088 + Missense_Mutation SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr2:108625088G>A uc002tdv.3 + 7 1339 c.1063G>A c.(1063-1065)Gca>Aca p.A355T SLC5A7_uc010ywm.2_Missense_Mutation_p.A108T|SLC5A7_uc010fjj.3_Missense_Mutation_p.A355T|SLC5A7_uc010ywn.2_Missense_Mutation_p.A242T NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA. 355 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) CATCTTGTCAGCAAGTTCCAT 0.413 RGPD5 84220 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr2:113127775G>C uc002ths.2 - 22 5470 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD5_uc010fkk.2_Missense_Mutation_p.P1620A NM_005054 NP_001157935 Q99666 RGPD5_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA. 1760 intracellular transport cytoplasm binding p.P1760A(12) central_nervous_system(1) 1 GAACGGGAAGGATTTTCTTCC 0.308 CKAP2L 150468 broad.mit.edu 37 2 113504041 113504041 + Missense_Mutation SNP C C A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr2:113504041C>A uc002tie.2 - 5 1793 c.1714G>T c.(1714-1716)Gat>Tat p.D572Y CKAP2L_uc002tif.2_Missense_Mutation_p.D161Y|CKAP2L_uc010yxp.1_Missense_Mutation_p.D407Y NM_152515 NP_689728 Q8IYA6 CKP2L_HUMAN Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA. 572 centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 CCAATAACATCAAAGGTGCCT 0.373 ABCB11 8647 broad.mit.edu 37 2 169791877 169791877 + Missense_Mutation SNP C C T TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr2:169791877C>T uc002ueo.1 - 22 2999 c.2873G>A c.(2872-2874)cGg>cAg p.R958Q ABCB11_uc010zda.1_Missense_Mutation_p.R400Q|ABCB11_uc010zdb.1_Missense_Mutation_p.R434Q NM_003742 NP_003733 O95342 ABCBB_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA. 958 ABC transmembrane type-1 2. R -> Q. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) TTCAATGAACCGCCTCTCCTT 0.448 FZD5 7855 broad.mit.edu 37 2 208632195 208632195 + Silent SNP G G A rs35642228 TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr2:208632195G>A uc021vvr.1 - 0 1269 c.1269C>T c.(1267-1269)ttC>ttT p.F423F FZD5_uc002vcj.3_Silent_p.F423F NM_003468 NP_003459 Q13467 FZD5_HUMAN Homo sapiens frizzled family receptor 5 (FZD5), mRNA. 423 angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134) AGAGCGACACGAAGCCCGCCA 0.637 RBM44 375316 broad.mit.edu 37 2 238727201 238727201 + Missense_Mutation SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr2:238727201G>A uc002vxi.4 + 2 1774 c.1642G>A c.(1642-1644)Gtt>Att p.V548I NM_001080504 NP_001073973 Q6ZP01 RBM44_HUMAN Homo sapiens RNA binding motif protein 44 (RBM44), mRNA. 547 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) ATCTCTCTCCGTTGACAGTTT 0.308 SNRPB2 6629 broad.mit.edu 37 20 16721056 16721056 + Silent SNP T T C TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr20:16721056T>C uc002wph.2 + 5 752 c.516T>C c.(514-516)aaT>aaC p.N172N SNRPB2_uc002wpi.2_Silent_p.N172N NM_003092 NP_937863 P08579 RU2B_HUMAN Homo sapiens small nuclear ribonucleoprotein polypeptide B (SNRPB2), transcript variant 1, mRNA. 172 RRM 2. catalytic step 2 spliceosome|nucleoplasm|U2 snRNP nucleotide binding|protein binding|RNA binding large_intestine(2)|lung(2)|urinary_tract(1) 5 TGCTGTTTAATCAGTAAGTTT 0.348 NKX2-4 644524 broad.mit.edu 37 20 21377636 21377636 + Silent SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr20:21377636G>A uc010gcz.3 - 0 412 c.402C>T c.(400-402)acC>acT p.T134T NM_033176 NP_149416 Q9H2Z4 NKX24_HUMAN Homo sapiens NK2 homeobox 4 (NKX2-4), mRNA. 134 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(2)|upper_aerodigestive_tract(1) 3 CGTACCAGCCGGTGGCCGCGC 0.736 CST9 128822 broad.mit.edu 37 20 23584188 23584188 + Missense_Mutation SNP C C T TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr20:23584188C>T uc002wtl.3 - 1 548 c.439G>A c.(439-441)Gga>Aga p.G147R NM_001008693 NP_001008693 Q5W186 CST9_HUMAN Homo sapiens cystatin 9 (testatin) (CST9), mRNA. 147 extracellular region cysteine-type endopeptidase inhibitor activity central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 12 Colorectal(13;0.0993) TCAGCTGCTCCTGTGCCCACA 0.577 TPTE 7179 broad.mit.edu 37 21 10906911 10906911 + Silent SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr21:10906911G>A uc002yip.1 - 23 2018 c.1650C>T c.(1648-1650)tcC>tcT p.S550S TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.S532S|TPTE_uc002yir.1_Silent_p.S512S|TPTE_uc010gkv.1_Silent_p.S412S NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 550 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.S550S(1)|p.S532S(1) 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) ATACTTAATCGGATCCAGCTA 0.398 CELSR1 9620 broad.mit.edu 37 22 46932243 46932243 + Silent SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr22:46932243G>A uc003bhw.1 - 0 825 c.825C>T c.(823-825)ggC>ggT p.G275G NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA. 275 Cadherin 1. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GCTCCTCCTCGCCCTCGATGG 0.632 DLEC1 9940 broad.mit.edu 37 3 38153750 38153750 + Silent SNP T T C TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr3:38153750T>C uc003chp.1 + 24 3585 c.3564T>C c.(3562-3564)ccT>ccC p.P1188P DLEC1_uc003cho.1_Silent_p.P1188P|DLEC1_uc010hgv.1_Silent_p.P1191P|DLEC1_uc003chr.1_Intron|DLEC1_uc010hgx.1_Non-coding_Transcript NM_007337 NP_031363 Q9Y238 DLEC1_HUMAN Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA. 1188 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CTTTCTTCCCTCACTTTTCCC 0.572 SCN5A 6331 broad.mit.edu 37 3 38591818 38591818 + Silent SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr3:38591818G>A uc021wvo.1 - 26 6097 c.6045C>T c.(6043-6045)atC>atT p.I2015I SCN5A_uc021wvk.1_Silent_p.I1982I|SCN5A_uc021wvl.1_Silent_p.I1961I|SCN5A_uc021wvm.1_Silent_p.I1997I|SCN5A_uc021wvn.1_Silent_p.I2014I|SCN5A_uc021wvp.1_Silent_p.I2015I|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.I1827I|SCN5A_uc021wvi.1_Silent_p.I1881I NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 2015 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) AGGCTCACACGATGGACTCAC 0.592 PBRM1 55193 broad.mit.edu 37 3 52598198 52598198 + Missense_Mutation SNP T T C TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr3:52598198T>C uc003des.2 - 22 3755 c.3743A>G c.(3742-3744)gAa>gGa p.E1248G PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.E1248G|PBRM1_uc003der.2_Missense_Mutation_p.E1216G|PBRM1_uc003det.2_Missense_Mutation_p.E1263G|PBRM1_uc003deu.2_Missense_Mutation_p.E1263G|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.E1248G|PBRM1_uc010hmk.1_Missense_Mutation_p.E1223G|PBRM1_uc003dey.2_Missense_Mutation_p.E1223G|PBRM1_uc003dez.1_Missense_Mutation_p.E1247G NM_181042 NP_060635 Q86U86 PB1_HUMAN Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA. 1248 BAH 2. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TTCTGGTATTTCAGTTGGCCT 0.408 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" UBA3 9039 broad.mit.edu 37 3 69120763 69120763 + Silent SNP C C T TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr3:69120763C>T uc003dno.3 - 4 290 c.270G>A c.(268-270)ttG>ttA p.L90L UBA3_uc003dnq.3_Silent_p.L76L|UBA3_uc011bfy.2_5'UTR|UBA3_uc011bfz.2_Intron NM_003968 NP_003959 Q8TBC4 UBA3_HUMAN Homo sapiens ubiquitin-like modifier activating enzyme 3 (UBA3), transcript variant 1, mRNA. 90 protein neddylation|proteolysis nucleus acid-amino acid ligase activity|ATP binding|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) TAAAACCAGACAAGGCCTGTG 0.313 SENP7 57337 broad.mit.edu 37 3 101080632 101080632 + Missense_Mutation SNP T T G TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr3:101080632T>G uc003dut.3 - 10 1661 c.1550A>C c.(1549-1551)gAt>gCt p.D517A SENP7_uc003duu.3_Missense_Mutation_p.D452A|SENP7_uc003duv.3_Missense_Mutation_p.D484A|SENP7_uc003duw.3_Missense_Mutation_p.D451A|SENP7_uc003dux.3_Missense_Mutation_p.D353A NM_020654 NP_065705 Q9BQF6 SENP7_HUMAN Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA. 517 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 CAGTTGTAGATCCATCTCATT 0.289 PIK3CA 5290 broad.mit.edu 37 3 178936092 178936092 + Missense_Mutation SNP A A C rs121913274 TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr3:178936092A>C uc003fjk.3 + 9 1791 c.1634A>C c.(1633-1635)gAg>gCg p.E545A NM_006218 NP_006209 P42336 PK3CA_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA. 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). 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|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(1071)|p.E545A(192)|p.E545G(157)|p.E545D(23)|p.E545Q(21)|p.E545?(19)|p.E545V(10)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(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) GAAATCACTGAGCAGGAGAAA 0.353 E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) TTC14 151613 broad.mit.edu 37 3 180321035 180321035 + Missense_Mutation SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr3:180321035G>A uc003fkk.3 + 2 542 c.410G>A c.(409-411)cGg>cAg p.R137Q TTC14_uc003fkl.3_Missense_Mutation_p.R137Q|TTC14_uc003fkm.2_Missense_Mutation_p.R137Q NM_133462 NP_597719 Q96N46 TTC14_HUMAN Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA. 137 S1 motif. RNA binding p.R137Q(2) endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) AGTTCTATTCGGGAATTCGGT 0.373 ACAP2 23527 broad.mit.edu 37 3 195015481 195015481 + Missense_Mutation SNP A A G TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr3:195015481A>G uc003fun.4 - 17 1973 c.1732T>C c.(1732-1734)Tcc>Ccc p.S578P NM_012287 NP_036419 Q15057 ACAP2_HUMAN Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA. 578 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 GACACCGTGGAGGGTAAAGAT 0.368 TLR6 10333 broad.mit.edu 37 4 38830189 38830189 + Silent SNP C C T TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr4:38830189C>T uc010ifg.2 - 1 1027 c.906G>A c.(904-906)acG>acA p.T302T TLR6_uc003gtm.3_Silent_p.T302T NM_006068 NP_006059 Q9Y2C9 TLR6_HUMAN Homo sapiens toll-like receptor 6 (TLR6), mRNA. 302 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTTTCAATGTCGTTTTAGAAT 0.318 CENPC1 1060 broad.mit.edu 37 4 68396616 68396616 + Missense_Mutation SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr4:68396616G>A uc003hdd.1 - 4 431 c.248C>T c.(247-249)cCa>cTa p.P83L CENPC1_uc010ihj.1_Non-coding_Transcript|CENPC1_uc010ihk.1_Non-coding_Transcript|CENPC1_uc010ihm.1_Missense_Mutation_p.P83L NM_001812 NP_001803 Q03188 CENPC_HUMAN Homo sapiens centromere protein C 1 (CENPC1), mRNA. 83 mitotic prometaphase condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol DNA binding NS(1)|breast(1)|kidney(5)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 23 AACTGACTTTGGATGTGATTT 0.363 UGT2B7 7364 broad.mit.edu 37 4 69978432 69978432 + Missense_Mutation SNP C C G TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr4:69978432C>G uc003heg.4 + 5 1614 c.1568C>G c.(1567-1569)gCa>gGa p.A523G UGT2B7_uc010ihq.3_3'UTR NM_001074 NP_001065 P16662 UD2B7_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA. 523 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GCTAGAAAAGCAAAGAAGGGA 0.378 SHROOM3 57619 broad.mit.edu 37 4 77660381 77660381 + Missense_Mutation SNP G G A rs146652221 byFrequency TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr4:77660381G>A uc011cbx.2 + 4 2008 c.1055G>A c.(1054-1056)cGg>cAg p.R352Q SHROOM3_uc011cbz.1_Missense_Mutation_p.R176Q|SHROOM3_uc003hkf.1_Missense_Mutation_p.R227Q|SHROOM3_uc003hkg.3_Missense_Mutation_p.R130Q NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 352 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) AATATTCCTCGGGGCAAGGGA 0.582 FRAS1 80144 broad.mit.edu 37 4 79351554 79351554 + Missense_Mutation SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr4:79351554G>A uc003hlb.2 + 36 5392 c.4952G>A c.(4951-4953)cGa>cAa p.R1651Q FRAS1_uc003hkw.3_Missense_Mutation_p.R1651Q|FRAS1_uc010ijj.2_Missense_Mutation_p.R71Q NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 1650 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 GCTGAGTTCCGAAGGCCGATG 0.493 ANK2 287 broad.mit.edu 37 4 114262932 114262932 + Missense_Mutation SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr4:114262932G>A uc003ibe.4 + 32 4082 c.3982G>A c.(3982-3984)Gcc>Acc p.A1328T ANK2_uc003ibd.4_Missense_Mutation_p.A1319T|ANK2_uc003ibf.4_Missense_Mutation_p.A1328T|ANK2_uc011cgc.2_Missense_Mutation_p.A504T|ANK2_uc003ibg.4_Missense_Mutation_p.A323T|ANK2_uc003ibh.4_Missense_Mutation_p.A2T|ANK2_uc011cgb.1_Missense_Mutation_p.A1343T NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 1295 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ACCTTATATGGCCAAATTTGT 0.393 RGNEF 64283 broad.mit.edu 37 5 73128174 73128174 + Missense_Mutation SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr5:73128174G>A uc010izf.3 + 9 1212 c.1036G>A c.(1036-1038)Gat>Aat p.D346N RGNEF_uc011csq.2_Missense_Mutation_p.D346N|RGNEF_uc003kcy.1_Missense_Mutation_p.D346N|RGNEF_uc021yam.1_Missense_Mutation_p.D346N|RGNEF_uc011csr.2_Missense_Mutation_p.D33N NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA. 346 cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction cytoplasm|plasma membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.25e-51) TCGCTCCTTCGATATCCTAAA 0.423 SLC36A2 153201 broad.mit.edu 37 5 150726999 150726999 + Missense_Mutation SNP T T A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr5:150726999T>A uc003lty.3 - 0 153 c.23A>T c.(22-24)gAg>gTg p.E8V SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_5'UTR|SLC36A2_uc010jhv.2_Missense_Mutation_p.E8V|SLC36A2_uc011dct.1_Missense_Mutation_p.E8V NM_181776 NP_861441 Q495M3 S36A2_HUMAN Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA. 8 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTGGGGACCCTCAGTACTTTT 0.493 DSP 1832 broad.mit.edu 37 6 7575560 7575560 + Silent SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr6:7575560G>A uc003mxp.1 + 17 2748 c.2469G>A c.(2467-2469)tcG>tcA p.S823S DSP_uc003mxq.1_Silent_p.S823S|DSP_uc021yle.1_Silent_p.S823S NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 823 Globular 1. 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) TGAAGAAGTCGTTGTTGGCCA 0.393 RHAG 6005 broad.mit.edu 37 6 49582542 49582542 + Missense_Mutation SNP C C A rs77467572 TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr6:49582542C>A uc003ozk.4 - 4 727 c.665G>T c.(664-666)tGg>tTg p.W222L RHAG_uc010jzl.3_Missense_Mutation_p.W222L|RHAG_uc010jzm.3_Missense_Mutation_p.W222L NM_000324 NP_000315 Q02094 RHAG_HUMAN Homo sapiens Rh-associated glycoprotein (RHAG), mRNA. 222 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) AAAGCTGGGCCAAAACATCCA 0.463 COL9A1 1297 broad.mit.edu 37 6 70961988 70961988 + Nonsense_Mutation SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr6:70961988G>A uc003pfg.4 - 26 1954 c.1795C>T c.(1795-1797)Cag>Tag p.Q599* COL9A1_uc003pfe.4_Nonsense_Mutation_p.Q172*|COL9A1_uc003pff.4_Nonsense_Mutation_p.Q356* NM_001851 NP_001842 P20849 CO9A1_HUMAN Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA. 599 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding p.G598C(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 TTTCCCATCTGACCAGGCTTC 0.423 NEUROD6 63974 broad.mit.edu 37 7 31378634 31378635 + Frame_Shift_Ins INS - - T TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr7:31378634_31378635insT uc003tch.3 - 1 601_602 c.248_249insA c.(247-249)aagfs p.K83fs NEUROD6_uc022abi.1_Frame_Shift_Ins_p.K83fs NM_022728 NP_073565 Q96NK8 NDF6_HUMAN Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA. 83 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 GCTTTGTTGTCTTTTTTTTCCT 0.520 COL1A2 1278 broad.mit.edu 37 7 94039079 94039079 + Silent SNP C C T rs141762645 byFrequency TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr7:94039079C>T uc003ung.1 + 18 1452 c.981C>T c.(979-981)cgC>cgT p.R327R COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA. 327 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|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) CTGGACCCCGCGGTATTCCTG 0.592 HNSCC(75;0.22) CNTNAP2 26047 broad.mit.edu 37 7 146536869 146536869 + Missense_Mutation SNP G G A rs138924087 TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr7:146536869G>A uc003weu.2 + 2 791 c.275G>A c.(274-276)cGg>cAg p.R92Q NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 92 F5/8 type C. 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 p.R92Q(2) 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) TTTGGCAATCGGAAGCAGATC 0.502 HNSCC(39;0.1) DOCK5 80005 broad.mit.edu 37 8 25220568 25220568 + Missense_Mutation SNP C C A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr8:25220568C>A uc003xeg.3 + 28 3092 c.2955C>A c.(2953-2955)ttC>ttA p.F985L DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.F699L|DOCK5_uc003xei.3_Missense_Mutation_p.F555L|DOCK5_uc003xej.3_Non-coding_Transcript NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA. 985 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) CGCAGGACTTCCTCATGGAAA 0.443 FNTA 2339 broad.mit.edu 37 8 42939877 42939877 + Silent SNP C C T TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr8:42939877C>T uc003xps.3 + 7 918 c.870C>T c.(868-870)tcC>tcT p.S290S FNTA_uc003xpt.3_Silent_p.S199S|FNTA_uc003xpv.3_Non-coding_Transcript NM_002027 NP_002018 P49354 FNTA_HUMAN Homo sapiens farnesyltransferase, CAAX box, alpha (FNTA), transcript variant 1, mRNA. 290 cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway cytosol|microtubule associated complex alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 16 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) GTGGTCTTTCCAAATATCCTA 0.343 SPAG1 6674 broad.mit.edu 37 8 101203698 101203698 + Missense_Mutation SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr8:101203698G>A uc003yjh.2 + 8 999 c.913G>A c.(913-915)Gtt>Att p.V305I SPAG1_uc003yjg.1_Missense_Mutation_p.V305I|SPAG1_uc003yji.2_Missense_Mutation_p.V305I NM_172218 NP_757367 Q07617 SPAG1_HUMAN Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA. 305 single fertilization cytoplasm GTP binding|hydrolase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) AGTACTAGATGTTGAGCCTGA 0.348 FER1L6 654463 broad.mit.edu 37 8 125131869 125131869 + Silent SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr8:125131869G>A uc003yqw.3 + 40 5618 c.5412G>A c.(5410-5412)tcG>tcA p.S1804S AK057332_uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 1804 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CCTCCTTTTCGTGGTTCATGA 0.458 PLEC 5339 broad.mit.edu 37 8 144992335 144992335 + Missense_Mutation SNP A A G TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr8:144992335A>G uc003zaf.1 - 31 12235 c.12065T>C c.(12064-12066)tTc>tCc p.F4022S PLEC_uc003zab.1_Missense_Mutation_p.F3885S|PLEC_uc003zac.1_Missense_Mutation_p.F3889S|PLEC_uc003zad.2_Missense_Mutation_p.F3885S|PLEC_uc003zae.1_Missense_Mutation_p.F3853S|PLEC_uc003zag.1_Missense_Mutation_p.F3863S|PLEC_uc003zah.2_Missense_Mutation_p.F3871S|PLEC_uc003zaj.2_Missense_Mutation_p.F3912S NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 4022 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CAGGCCACGGAAGGTCAGCTT 0.692 GLDC 2731 broad.mit.edu 37 9 6592871 6592871 + Missense_Mutation SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr9:6592871G>A uc003zkc.3 - 9 1574 c.1381C>T c.(1381-1383)Cgg>Tgg p.R461W NM_000170 NP_000161 P23378 GCSP_HUMAN Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA. 461 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) TCAAAAAGCCGAAAATTGATC 0.403 PAX5 5079 broad.mit.edu 37 9 37020754 37020754 + Missense_Mutation SNP G G A TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr9:37020754G>A uc003zzo.1 - 1 539 c.91C>T c.(91-93)Cgg>Tgg p.R31W PAX5_uc011lqc.1_Missense_Mutation_p.R31W|PAX5_uc010mlr.1_Missense_Mutation_p.R31W|PAX5_uc011lpw.1_Missense_Mutation_p.R31W|PAX5_uc011lpx.1_Missense_Mutation_p.R31W|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Missense_Mutation_p.R31W|PAX5_uc011lpz.1_Missense_Mutation_p.R31W|PAX5_uc011lqa.1_Intron|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Missense_Mutation_p.R31W|PAX5_uc010mlp.1_Missense_Mutation_p.R31W|PAX5_uc011lqd.1_Missense_Mutation_p.R30W|PAX5_uc011lqe.1_Intron|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_Intron NM_016734 NP_057953 Q02548 PAX5_HUMAN Homo sapiens paired box 5 (PAX5), mRNA. 31 Paired. cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(41) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) GGGAGTGGCCGTCCATTCACA 0.522 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" CYLC2 1539 broad.mit.edu 37 9 105767035 105767035 + Frame_Shift_Del DEL C C - TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr9:105767035delC uc004bbs.2 + 3 309 c.239delC c.(238-240)tctfs p.S80fs NM_001340 NP_001331 Q14093 CYLC2_HUMAN Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA. 80 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) ATGTACCGTTCTTTAATGAGA 0.398 NOXA1 10811 broad.mit.edu 37 9 140327980 140327980 + Nonsense_Mutation SNP C C T TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chr9:140327980C>T uc004cmu.3 + 10 1120 c.985C>T c.(985-987)Cga>Tga p.R329* NOXA1_uc004cmv.3_Nonsense_Mutation_p.R329*|NOXA1_uc010nch.3_Nonsense_Mutation_p.R273* NM_006647 NP_006638 Q86UR1 NOXA1_HUMAN Homo sapiens NADPH oxidase activator 1 (NOXA1), transcript variant 1, mRNA. 329 OPR. Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate). R -> G (in Ref. 6; AAC18046). regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process cytoplasm|NADPH oxidase complex Rac GTPase binding|superoxide-generating NADPH oxidase activator activity cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1) 9 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982) CCTGAGGGCACGAAGAGGAGC 0.701 DACH2 117154 broad.mit.edu 37 X 86068163 86068163 + Missense_Mutation SNP C C T TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chrX:86068163C>T uc004eew.2 + 8 1590 c.1420C>T c.(1420-1422)Cgc>Tgc p.R474C DACH2_uc004eex.2_Missense_Mutation_p.R461C|DACH2_uc010nmq.2_Missense_Mutation_p.R340C|DACH2_uc011mra.1_Missense_Mutation_p.R307C|DACH2_uc010nmr.2_Missense_Mutation_p.R255C|DACH2_uc004eey.3_Missense_Mutation_p.R167C|DACH2_uc004eez.3_Missense_Mutation_p.R157C NM_053281 NP_001132987 Q96NX9 DACH2_HUMAN Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA. 474 DACHbox-C. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding p.A473T(1) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 GGATAATGCTCGCATCCAGGA 0.373 SLC6A14 11254 broad.mit.edu 37 X 115588823 115588823 + Missense_Mutation SNP G G A rs142971231 TCGA-74-6578-01A-11D-1845-08 TCGA-74-6578-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2ae2128-4d95-4261-a30d-bd6be58de8e0 77b7996e-f991-4760-a58d-1a6f7d239ddf g.chrX:115588823G>A uc004eqi.3 + 12 1794 c.1663G>A c.(1663-1665)Gca>Aca p.A555T NM_007231 NP_009162 Q9UN76 S6A14_HUMAN Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA. 555 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.G554G(1) 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) TAATTATGGCGCAATTCCATA 0.358