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 ARHGEF16 27237 broad.mit.edu 37 1 3389688 3389688 + Missense_Mutation SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr1:3389688G>A uc001akg.3 + 7 1317 c.1069G>A c.(1069-1071)GAG>AAG p.E357K ARHGEF16_uc001aki.2_Missense_Mutation_p.E69K|ARHGEF16_uc001akj.2_Missense_Mutation_p.E69K|ARHGEF16_uc009vli.1_Missense_Mutation_p.E61K|ARHGEF16_uc010nzh.1_Missense_Mutation_p.E61K NM_014448 NP_055263 Q5VV41 ARHGG_HUMAN Rho guanine exchange factor 16 357 DH.|Required for RHOG activation and mediates interaction with EPHA2. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity ovary(1) 1 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GGTGCTGGTCGAGGACATCAG 0.632 MAST2 23139 broad.mit.edu 37 1 46500629 46500629 + Missense_Mutation SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr1:46500629C>T uc001cov.2 + 29 4571 c.4288C>T c.(4288-4290)CTT>TTT p.L1430F MAST2_uc001cow.2_Missense_Mutation_p.L1429F|MAST2_uc001cpa.2_RNA NM_015112 NP_055927 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 1430 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity ovary(5)|lung(3)|stomach(2)|breast(1) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CAAGCACAGCCTTGACCTGCC 0.592 CC2D1B 200014 broad.mit.edu 37 1 52820329 52820329 + Missense_Mutation SNP A G G TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr1:52820329A>G uc001ctq.1 - 23 2537 c.2399T>C c.(2398-2400)CTG>CCG p.L800P CC2D1B_uc001ctr.2_Missense_Mutation_p.L340P|CC2D1B_uc001cts.2_Missense_Mutation_p.L485P NM_032449 NP_115825 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 800 ovary(2) 2 CTCCAGTTTCAGGTGTGCTGT 0.567 PIAS3 10401 broad.mit.edu 37 1 145584562 145584562 + Missense_Mutation SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr1:145584562G>A uc001eoc.1 + 12 1620 c.1529G>A c.(1528-1530)AGT>AAT p.S510N NBPF10_uc001emp.3_Intron|PIAS3_uc001eod.1_Missense_Mutation_p.S179N NM_006099 NP_006090 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 510 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTCCTGTCCAGTCTCCCACTA 0.592 FLG 2312 broad.mit.edu 37 1 152286200 152286200 + Missense_Mutation SNP G T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr1:152286200G>T uc001ezu.1 - 3 1198 c.1162C>A c.(1162-1164)CAC>AAC p.H388N uc001ezv.2_RNA NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 388 Ser-rich.|Filaggrin 2. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACTGCTGGTGGCCGGATCCA 0.577 Ichthyosis FLG2 388698 broad.mit.edu 37 1 152323312 152323312 + Missense_Mutation SNP T G G TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr1:152323312T>G uc001ezw.3 - 3 7023 c.6950A>C c.(6949-6951)CAG>CCG p.Q2317P uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 2317 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGAACCTGTCTGTGTGGATTG 0.463 LCE3E 353145 broad.mit.edu 37 1 152538509 152538509 + Missense_Mutation SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr1:152538509C>T uc001faa.2 - 2 232 c.176G>A c.(175-177)CGC>CAC p.R59H NM_178435 NP_848522 Q5T5B0 LCE3E_HUMAN late cornified envelope 3E 59 keratinization ovary(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153) TCGGTGGTGGCGCCTGTGGTG 0.682 CD5L 922 broad.mit.edu 37 1 157805716 157805716 + Silent SNP A G G TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr1:157805716A>G uc001frk.3 - 3 428 c.285T>C c.(283-285)AGT>AGC p.S95S NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 95 SRCR 1. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TTCCTGTGCAACTGACTGATT 0.493 ZNF124 7678 broad.mit.edu 37 1 247320190 247320190 + Missense_Mutation SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr1:247320190C>T uc001ick.2 - 4 873 c.734G>A c.(733-735)TGT>TAT p.C245Y ZNF124_uc001ici.2_Intron|ZNF124_uc001icj.1_Missense_Mutation_p.C183Y NM_003431 NP_003422 Q15973 ZN124_HUMAN zinc finger protein 124 245 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00739) GGAACTGAGACAACTGAAAGC 0.458 PGBD2 267002 broad.mit.edu 37 1 249212440 249212440 + Missense_Mutation SNP T A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr1:249212440T>A uc001ifh.2 + 3 1804 c.1657T>A c.(1657-1659)TGG>AGG p.W553R PGBD2_uc001ifg.2_Missense_Mutation_p.W302R|PGBD2_uc009xhd.2_Missense_Mutation_p.W550R NM_170725 NP_733843 Q6P3X8 PGBD2_HUMAN hypothetical protein LOC267002 isoform a 553 ovary(1) 1 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GATTGGGCACTGGATTATCCA 0.547 LRIT1 26103 broad.mit.edu 37 10 85992166 85992166 + Silent SNP G A A rs142074653 byFrequency TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr10:85992166G>A uc001kcz.1 - 4 1411 c.1389C>T c.(1387-1389)TAC>TAT p.Y463Y NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN retina specific protein PAL 463 Fibronectin type-III.|Lumenal (Potential). integral to endoplasmic reticulum membrane 0 CAAAGACCGCGTAGAGGACAC 0.582 PTEN 5728 broad.mit.edu 37 10 89692785 89692785 + Missense_Mutation SNP T C C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr10:89692785T>C uc001kfb.2 + 6 1300 c.269T>C c.(268-270)TTT>TCT p.F90S NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 90 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.F90fs*9(5)|p.R55fs*1(4)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.F90L(1)|p.F90S(1)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F90_P95>L(1)|p.F56fs*2(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CAATATCCTTTTGAAGACCAT 0.338 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) PTEN 5728 broad.mit.edu 37 10 89720847 89720847 + Frame_Shift_Del DEL C - - TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr10:89720847delC uc001kfb.2 + 9 2029 c.998delC c.(997-999)GCCfs p.A333fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 333 C2 tensin-type. KANKDKANR->AAGADAANA: Reduces growth suppression activity and promotes anchorage-independent growth. Reduces binding to phospholipid membranes in vitro; phosphatase activity towards PtdIns(3,4,5)P3 is not affected. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.W274_F341del(1)|p.D326_K342del(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AAAGACAAAGCCAACCGATAC 0.328 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) SORCS1 114815 broad.mit.edu 37 10 108923743 108923743 + Missense_Mutation SNP G C C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr10:108923743G>C uc001kym.2 - 1 550 c.542C>G c.(541-543)TCT>TGT p.S181C SORCS1_uc001kyl.2_Missense_Mutation_p.S181C|SORCS1_uc009xxs.2_Missense_Mutation_p.S181C|SORCS1_uc001kyn.1_Missense_Mutation_p.S181C|SORCS1_uc001kyo.2_Missense_Mutation_p.S181C NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 181 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GTTGTGGCCAGACCAGTGGAC 0.562 SMC3 9126 broad.mit.edu 37 10 112344031 112344031 + Missense_Mutation SNP G T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr10:112344031G>T uc001kze.2 + 13 1308 c.1182G>T c.(1180-1182)TGG>TGT p.W394C NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 394 Potential. 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 ovary(1)|central_nervous_system(1)|skin(1) 3 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) GGGATAAGTGGATTAAAAAGG 0.383 DMBT1 1755 broad.mit.edu 37 10 124399762 124399762 + Silent SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr10:124399762C>T uc001lgk.1 + 52 6868 c.6762C>T c.(6760-6762)GAC>GAT p.D2254D DMBT1_uc001lgl.1_Silent_p.D2244D|DMBT1_uc001lgm.1_Silent_p.D1626D|DMBT1_uc009xzz.1_Silent_p.D2253D|DMBT1_uc010qtx.1_Silent_p.D974D|DMBT1_uc009yab.1_Silent_p.D957D|DMBT1_uc009yac.1_Silent_p.D548D NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 2254 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GCAATTTTGACGTGAACATTT 0.463 MUC5B 727897 broad.mit.edu 37 11 1267425 1267425 + Silent SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr11:1267425C>T uc009ycr.1 + 49 11190 c.11064C>T c.(11062-11064)ACC>ACT p.T3688T MUC5B_uc001ltb.2_Silent_p.T3108T NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 3105 7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCACCCACACCTCCACAGTGC 0.637 MUC5B 727897 broad.mit.edu 37 11 1267929 1267929 + Silent SNP T C C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr11:1267929T>C uc009ycr.1 + 49 11694 c.11568T>C c.(11566-11568)ACT>ACC p.T3856T MUC5B_uc001ltb.2_Silent_p.T3276T NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 3273 7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTCCAGAGACTGTCCACACCT 0.642 MUC5B 727897 broad.mit.edu 37 11 1271196 1271196 + Silent SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr11:1271196C>T uc009ycr.1 + 51 14631 c.14505C>T c.(14503-14505)ACC>ACT p.T4835T MUC5B_uc001ltb.2_Silent_p.T4365T NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 4362 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCACCCACACCTCCACAGTGC 0.652 PAMR1 25891 broad.mit.edu 37 11 35454286 35454286 + Missense_Mutation SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr11:35454286G>A uc001mwg.2 - 11 1824 c.1781C>T c.(1780-1782)TCC>TTC p.S594F PAMR1_uc001mwf.2_Missense_Mutation_p.S611F|PAMR1_uc010rew.1_Missense_Mutation_p.S483F|PAMR1_uc010rex.1_Missense_Mutation_p.S554F NM_001001991 NP_001001991 Q6UXH9 PAMR1_HUMAN regeneration associated muscle protease isoform 594 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 AGTGATGTGGGACTCCTGGAA 0.607 LRP4 4038 broad.mit.edu 37 11 46880763 46880763 + Missense_Mutation SNP C T T rs146864522 TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr11:46880763C>T uc001ndn.3 - 38 5635 c.5489G>A c.(5488-5490)CGA>CAA p.R1830Q uc001ndl.2_Intron|LRP4_uc001ndm.3_Missense_Mutation_p.R72Q NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 1830 Cytoplasmic (Potential). endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) CCGTGAGCTTCGCAGTTGCTT 0.572 UNC93B1 81622 broad.mit.edu 37 11 67765211 67765211 + Silent SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr11:67765211C>T uc001omw.1 - 7 920 c.840G>A c.(838-840)CCG>CCA p.P280P NM_030930 NP_112192 Q9H1C4 UN93B_HUMAN unc-93 homolog B1 280 innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome 0 TTCCGCTCCGCGGGAGCGTCC 0.647 CNTN5 53942 broad.mit.edu 37 11 100126601 100126601 + Missense_Mutation SNP C A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr11:100126601C>A uc001pga.2 + 17 2454 c.2115C>A c.(2113-2115)AAC>AAA p.N705K CNTN5_uc001pfz.2_Missense_Mutation_p.N705K|CNTN5_uc001pgb.2_Missense_Mutation_p.N631K|CNTN5_uc010ruk.1_5'UTR NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 705 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CCTCCTACAACCTTCAAGCTC 0.507 CACNA2D4 93589 broad.mit.edu 37 12 1992139 1992139 + Missense_Mutation SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr12:1992139G>A uc001qjp.2 - 13 1610 c.1379C>T c.(1378-1380)GCG>GTG p.A460V CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.A348V NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 460 VWFA.|Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CTGGGTGTCCGCCAGCGTTGA 0.632 PTPRO 5800 broad.mit.edu 37 12 15654855 15654855 + Silent SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr12:15654855C>T uc001rcv.1 + 5 1137 c.963C>T c.(961-963)TAC>TAT p.Y321Y PTPRO_uc001rcw.1_Silent_p.Y321Y|PTPRO_uc001rcu.1_Silent_p.Y321Y NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 321 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) CCATGGAATACGAAAATAACA 0.448 MLL2 8085 broad.mit.edu 37 12 49416373 49416373 + Missense_Mutation SNP C G G TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr12:49416373C>G uc001rta.3 - 51 16338 c.16338G>C c.(16336-16338)CAG>CAC p.Q5446H NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5446 SET. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CAGCTCATACCTGCTCTTCGT 0.542 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) MLL2 8085 broad.mit.edu 37 12 49432216 49432216 + Missense_Mutation SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr12:49432216G>A uc001rta.3 - 34 8923 c.8923C>T c.(8923-8925)CGC>TGC p.R2975C NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2975 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GGATTGGGGCGGCCAAGCTCA 0.577 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) KCNH3 23416 broad.mit.edu 37 12 49935518 49935518 + Missense_Mutation SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr12:49935518G>A uc001ruh.1 + 3 676 c.416G>A c.(415-417)CGA>CAA p.R139Q KCNH3_uc010smj.1_Missense_Mutation_p.R79Q NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H 139 PAC.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity 0 ACCAAGAACCGAGGGGGCCCC 0.592 CRADD 8738 broad.mit.edu 37 12 94243772 94243772 + Missense_Mutation SNP C A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr12:94243772C>A uc001tda.2 + 3 429 c.325C>A c.(325-327)CAC>AAC p.H109N CRADD_uc010sur.1_Intron|CRADD_uc010sus.1_Intron NM_003805 NP_003796 P78560 CRADD_HUMAN CASP2 and RIPK1 domain containing adaptor with 109 apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction intracellular death domain binding|protease binding|protein binding, bridging ovary(1) 1 GATCCCCTCGCACATCCTCAA 0.562 CUX2 23316 broad.mit.edu 37 12 111748245 111748245 + Silent SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr12:111748245G>A uc001tsa.1 + 15 1812 c.1659G>A c.(1657-1659)CTG>CTA p.L553L NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 553 CUT 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 AGGAGCAGCTGGACACGGCAG 0.701 GPR133 283383 broad.mit.edu 37 12 131487822 131487822 + Silent SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr12:131487822C>T uc001uit.3 + 10 1678 c.1119C>T c.(1117-1119)ACC>ACT p.T373T GPR133_uc010tbm.1_Silent_p.T405T NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 373 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CCCAGGTCACCGTGGAGGGCT 0.612 TPTE2 93492 broad.mit.edu 37 13 20039688 20039688 + Nonsense_Mutation SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr13:20039688G>A uc001umd.2 - 9 740 c.529C>T c.(529-531)CGA>TGA p.R177* TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Nonsense_Mutation_p.R66*|TPTE2_uc001ume.2_Nonsense_Mutation_p.R100*|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid 177 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) CGTAGAAGTCGAACTAAATGT 0.289 SPERT 220082 broad.mit.edu 37 13 46287387 46287387 + Missense_Mutation SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr13:46287387C>T uc001van.1 + 3 307 c.227C>T c.(226-228)GCC>GTC p.A76V SPERT_uc001vao.2_Missense_Mutation_p.A40V NM_152719 NP_689932 Q8NA61 SPERT_HUMAN spermatid associated 76 cytoplasmic membrane-bounded vesicle central_nervous_system(1)|pancreas(1) 2 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) CAGCAGGCCGCCCTGCCCCGG 0.662 LOC647288 647288 broad.mit.edu 37 13 75814354 75814354 + Missense_Mutation SNP C G G TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr13:75814354C>G uc010ths.1 - 1 164 c.123G>C c.(121-123)TGG>TGC p.W41C NR_027466 Homo sapiens mRNA; cDNA DKFZp434F0327 (from clone DKFZp434F0327). 0 CCACCAGTTCCCATGGAAAAC 0.488 STRN3 29966 broad.mit.edu 37 14 31425409 31425409 + Nonsense_Mutation SNP C A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr14:31425409C>A uc001wqu.2 - 2 538 c.322G>T c.(322-324)GAG>TAG p.E108* STRN3_uc001wqv.2_Nonsense_Mutation_p.E108*|STRN3_uc010tpj.1_RNA NM_001083893 NP_001077362 Q13033 STRN3_HUMAN nuclear autoantigen isoform 1 108 Potential. negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) TTCAGGTTCTCTTGACCTTTT 0.328 MAX 4149 broad.mit.edu 37 14 65543330 65543330 + Missense_Mutation SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr14:65543330G>A uc001xif.1 - 5 517 c.347C>T c.(346-348)CCC>CTC p.P116L MAX_uc001xic.1_Intron|MAX_uc001xie.1_3'UTR|MAX_uc010aql.1_Missense_Mutation_p.P30S|MAX_uc001xig.1_Missense_Mutation_p.P107L|MAX_uc001xih.1_RNA NM_002382 NP_002373 P61244 MAX_HUMAN MAX protein isoform a 116 transcription from RNA polymerase II promoter cytoplasm|MLL1 complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity lung(1) 1 all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999) GTCTGAGGAGGGGTAGTTGGT 0.587 OR4N3P 390539 broad.mit.edu 37 15 22414006 22414006 + Missense_Mutation SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr15:22414006G>A uc001yuf.2 + 1 305 c.305G>A c.(304-306)CGA>CAA p.R102Q NM_001080841 NP_001074310 RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13; 0 TGTGATGTCCGACAGGTCATC 0.512 PIF1 80119 broad.mit.edu 37 15 65114493 65114493 + Silent SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr15:65114493G>A uc002ant.2 - 4 855 c.789C>T c.(787-789)ATC>ATT p.I263I PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_5'Flank|PIF1_uc010uiq.1_Silent_p.I263I|PIF1_uc002anu.2_3'UTR NM_025049 NP_079325 Q9H611 PIF1_HUMAN DNA helicase homolog PIF1 263 Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity. negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding 0 TGGTGCCCCCGATGTGGCAGG 0.612 PPL 5493 broad.mit.edu 37 16 4937215 4937215 + Missense_Mutation SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr16:4937215G>A uc002cyd.1 - 21 2618 c.2528C>T c.(2527-2529)GCC>GTC p.A843V NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 843 Spectrin 4. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 GAACTTGGCGGCAAGTGCTGC 0.483 GLG1 2734 broad.mit.edu 37 16 74542799 74542799 + Missense_Mutation SNP G C C rs142819854 TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr16:74542799G>C uc002fcy.3 - 3 546 c.496C>G c.(496-498)CTA>GTA p.L166V GLG1_uc002fcx.2_Missense_Mutation_p.L166V|GLG1_uc002fcw.3_Missense_Mutation_p.L155V|GLG1_uc002fcz.3_5'UTR NM_001145667 NP_001139139 Q92896 GSLG1_HUMAN golgi apparatus protein 1 isoform 3 166 Cys-rich GLG1 2.|Extracellular (Potential). Golgi membrane|integral to membrane receptor binding ovary(1)|breast(1) 2 TCTGTAGTTAGGTTCAGCTTA 0.328 CBFA2T3 863 broad.mit.edu 37 16 88945844 88945844 + Missense_Mutation SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr16:88945844C>T uc002fmm.1 - 11 1682 c.1496G>A c.(1495-1497)CGG>CAG p.R499Q CBFA2T3_uc002fml.1_Missense_Mutation_p.R413Q|CBFA2T3_uc002fmk.1_5'UTR NM_005187 NP_005178 O75081 MTG16_HUMAN myeloid translocation gene on chromosome 16 499 Mediates interaction with PRKAR2A.|Potential. cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0275) CATGGCCTGCCGCTTCACCTC 0.647 T RUNX1 AML P2RX5 5026 broad.mit.edu 37 17 3582918 3582918 + Missense_Mutation SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr17:3582918C>T uc002fwi.2 - 11 1509 c.1225G>A c.(1225-1227)GGA>AGA p.G409R P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Missense_Mutation_p.G408R|P2RX5_uc010vrx.1_Missense_Mutation_p.G349R|P2RX5_uc002fwj.2_Missense_Mutation_p.G384R|P2RX5_uc002fwk.2_Missense_Mutation_p.G408R|P2RX5_uc002fwl.2_Missense_Mutation_p.G385R NM_002561 NP_002552 Q93086 P2RX5_HUMAN purinergic receptor P2X5 isoform A 409 Cytoplasmic (Potential). nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity 0 CACACAGATCCGTTCCCCTTC 0.672 RABEP1 9135 broad.mit.edu 37 17 5238607 5238607 + Missense_Mutation SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr17:5238607G>A uc002gbm.3 + 4 720 c.496G>A c.(496-498)GAG>AAG p.E166K RABEP1_uc010clc.1_Missense_Mutation_p.E166K|RABEP1_uc010cld.1_Missense_Mutation_p.E123K|RABEP1_uc010vsw.1_Missense_Mutation_p.E123K|RABEP1_uc002gbl.3_Missense_Mutation_p.E166K|RABEP1_uc002gbj.2_Missense_Mutation_p.E166K|RABEP1_uc002gbk.2_Missense_Mutation_p.E166K NM_004703 NP_004694 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 166 Potential. apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity large_intestine(1)|ovary(1) 2 TGAAGGTCAAGAGGAGGAAAA 0.383 TP53 7157 broad.mit.edu 37 17 7578394 7578394 + Missense_Mutation SNP T C C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr17:7578394T>C uc002gim.2 - 5 730 c.536A>G c.(535-537)CAT>CGT p.H179R TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.2_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.1_Missense_Mutation_p.H140R NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 179 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Zinc. H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCAGCGCTCATGGTGGGGGCA 0.642 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) PEX12 5193 broad.mit.edu 37 17 33904306 33904306 + Missense_Mutation SNP G C C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr17:33904306G>C uc002hjp.2 - 2 1047 c.431C>G c.(430-432)TCT>TGT p.S144C NM_000286 NP_000277 O00623 PEX12_HUMAN peroxisomal biogenesis factor 12 144 Cytoplasmic (Potential). protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GGGATGAATAGAATATTCATC 0.453 KRTAP4-11 653240 broad.mit.edu 37 17 39274206 39274206 + Missense_Mutation SNP C T T rs79388709 TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr17:39274206C>T uc002hvz.2 - 1 401 c.362G>A c.(361-363)AGA>AAA p.R121K NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 121 20.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) gcactggggtctgcagcagct 0.100 KRT38 8687 broad.mit.edu 37 17 39593757 39593757 + Silent SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr17:39593757G>A uc002hwq.1 - 7 1701 c.1278C>T c.(1276-1278)TGC>TGT p.C426C NM_006771 NP_006762 O76015 KRT38_HUMAN keratin 38 426 Tail. intermediate filament structural molecule activity skin(2) 2 Breast(137;0.000496) GGGCAGTCACGCAGGAGGGAG 0.617 ARL17A 51326 broad.mit.edu 37 17 44594545 44594545 + Missense_Mutation SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr17:44594545C>T uc002iko.3 - 4 453 c.314G>A c.(313-315)GGC>GAC p.G105D LRRC37A2_uc002ikn.1_Intron NM_016632 NP_057716 Q8IVW1 ARL17_HUMAN hypothetical protein LOC51326 isoform b Error:Variant_position_missing_in_Q8IVW1_after_alignment protein transport|vesicle-mediated transport Golgi apparatus GTP binding 0 ATCATTTGTGCCGGTGACCCC 0.403 CCBE1 147372 broad.mit.edu 37 18 57106776 57106776 + Missense_Mutation SNP T G G TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr18:57106776T>G uc002lib.2 - 9 1020 c.950A>C c.(949-951)AAG>ACG p.K317T CCBE1_uc010dpq.2_Missense_Mutation_p.K46T|CCBE1_uc002lia.2_Missense_Mutation_p.K170T NM_133459 NP_597716 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 317 Collagen-like 2. lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding skin(2)|ovary(1) 3 Colorectal(73;0.175) AAGGCTTACCTTAGAACCATC 0.348 ADNP2 22850 broad.mit.edu 37 18 77896514 77896514 + Missense_Mutation SNP T C C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr18:77896514T>C uc002lnw.2 + 4 3673 c.3218T>C c.(3217-3219)ATA>ACA p.I1073T NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 1073 Homeobox. cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|breast(3)|central_nervous_system(1) 8 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) AAAAAGGAAATAGAACTGTTG 0.313 ADNP2 22850 broad.mit.edu 37 18 77896534 77896534 + Missense_Mutation SNP T C C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr18:77896534T>C uc002lnw.2 + 4 3693 c.3238T>C c.(3238-3240)TTT>CTT p.F1080L NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 1080 Homeobox. cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|breast(3)|central_nervous_system(1) 8 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) GTCCTCACTCTTTTGGGTGTG 0.328 GCDH 2639 broad.mit.edu 37 19 13008135 13008135 + Silent SNP A T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr19:13008135A>T uc002mvq.2 + 10 1052 c.975A>T c.(973-975)CCA>CCT p.P325P GCDH_uc010xms.1_Silent_p.P292P|GCDH_uc002mvp.2_Silent_p.P325P|GCDH_uc010xmt.1_Silent_p.P159P|GCDH_uc010xmu.1_Silent_p.P281P NM_000159 NP_000150 Q92947 GCDH_HUMAN glutaryl-Coenzyme A dehydrogenase isoform a 325 lysine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding 0 TTGGTGTCCCACTGGCCAGGA 0.627 OR10H1 26539 broad.mit.edu 37 19 15917903 15917903 + Frame_Shift_Del DEL A - - TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr19:15917903delA uc002nbq.2 - 1 1034 c.945delT c.(943-945)AATfs p.N315fs NM_013940 NP_039228 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, 315 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACATCATTACATTTTTTTCTG 0.363 PDE4C 5143 broad.mit.edu 37 19 18327614 18327614 + Silent SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr19:18327614G>A uc010xqc.1 - 12 1902 c.1422C>T c.(1420-1422)TGC>TGT p.C474C PDE4C_uc002nik.3_Silent_p.C474C|PDE4C_uc002nil.3_Silent_p.C474C|PDE4C_uc002nif.3_Silent_p.C243C|PDE4C_uc002nig.3_Silent_p.C189C|PDE4C_uc002nih.3_Silent_p.C244C|PDE4C_uc010ebk.2_Silent_p.C368C|PDE4C_uc002nii.3_Silent_p.C442C|PDE4C_uc010ebl.2_Silent_p.C188C|PDE4C_uc010xqd.1_Silent_p.C243C NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN phosphodiesterase 4C isoform PDE4C-2 474 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|skin(2)|central_nervous_system(1) 5 Dyphylline(DB00651) GGAAGATATCGCAGTTCTCTG 0.602 CILP2 148113 broad.mit.edu 37 19 19653191 19653191 + Silent SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr19:19653191C>T uc002nmv.3 + 5 685 c.600C>T c.(598-600)AGC>AGT p.S200S CILP2_uc002nmw.3_Silent_p.S206S NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 200 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 CAGGGTGCAGCCTTGACACCT 0.582 ZNF208 7757 broad.mit.edu 37 19 22154854 22154854 + Silent SNP A T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr19:22154854A>T uc002nqp.2 - 6 2747 c.2598T>A c.(2596-2598)ATT>ATA p.I866I ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) CTCCAGTATGAATTACCTTAT 0.348 MLL4 9757 broad.mit.edu 37 19 36222840 36222840 + Silent SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr19:36222840C>T uc010eei.2 + 28 5469 c.5469C>T c.(5467-5469)GAC>GAT p.D1823D NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 1823 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCCCACTGGACACAGATGTTC 0.627 MEGF8 1954 broad.mit.edu 37 19 42873137 42873137 + Silent SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr19:42873137C>T uc002otl.3 + 36 7058 c.6423C>T c.(6421-6423)ACC>ACT p.T2141T MEGF8_uc002otm.3_Silent_p.T1749T|MEGF8_uc002otn.3_5'Flank NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2208 Extracellular (Potential).|EGF-like 5. integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) GCTGCAAGACCGGCTATACCA 0.637 ZNF813 126017 broad.mit.edu 37 19 53994332 53994332 + Silent SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr19:53994332G>A uc002qbu.2 + 4 974 c.846G>A c.(844-846)CAG>CAA p.Q282Q ZNF813_uc010eqq.1_Intron NM_001004301 NP_001004301 Q6ZN06 ZN813_HUMAN zinc finger protein 813 282 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) CTTTCAGTCAGACGTATTCCC 0.418 IL1F8 27177 broad.mit.edu 37 2 113780342 113780342 + Nonsense_Mutation SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr2:113780342C>T uc002tiq.1 - 6 508 c.404G>A c.(403-405)TGG>TAG p.W135* NM_014438 NP_055253 Q9NZH7 IL36B_HUMAN interleukin 1 family, member 8 isoform 1 135 immune response extracellular space cytokine activity|interleukin-1 receptor binding ovary(1) 1 GGAACTCTTCCACTTCTTTCT 0.438 GALNT5 11227 broad.mit.edu 37 2 158165160 158165160 + Missense_Mutation SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr2:158165160G>A uc002tzg.2 + 9 2857 c.2602G>A c.(2602-2604)GTA>ATA p.V868I GALNT5_uc010zci.1_RNA NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN N-acetylgalactosaminyltransferase 5 868 Lumenal (Potential).|Ricin B-type lectin. glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(3)|skin(1) 4 TAAAGGAGCCGTAAGGCTGCA 0.408 TTN 7273 broad.mit.edu 37 2 179553840 179553840 + Missense_Mutation SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr2:179553840C>T uc010zfg.1 - 122 28527 c.28303G>A c.(28303-28305)GTC>ATC p.V9435I TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6096I|TTN_uc010fre.1_Missense_Mutation_p.V546I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10362 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCTCTGGGACGGGTTTCTTA 0.428 CCDC108 255101 broad.mit.edu 37 2 219892442 219892442 + Missense_Mutation SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr2:219892442C>T uc002vjl.1 - 13 2225 c.2141G>A c.(2140-2142)CGC>CAC p.R714H CCDC108_uc010fwa.1_Missense_Mutation_p.R157H|CCDC108_uc010zkp.1_Missense_Mutation_p.R703H|CCDC108_uc010zkq.1_Missense_Mutation_p.R649H NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 714 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAAGTGCAGGCGCATGGCCAT 0.597 COL6A3 1293 broad.mit.edu 37 2 238289831 238289831 + Missense_Mutation SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr2:238289831C>T uc002vwl.2 - 5 1909 c.1624G>A c.(1624-1626)GGC>AGC p.G542S COL6A3_uc002vwo.2_Missense_Mutation_p.G336S|COL6A3_uc010znj.1_Missense_Mutation_p.G135S|COL6A3_uc002vwq.2_Missense_Mutation_p.G336S|COL6A3_uc002vwr.2_Missense_Mutation_p.G135S|COL6A3_uc010znk.1_Missense_Mutation_p.G542S NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 542 VWFA 3.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GCCCGGTAGCCGGCTGAACTC 0.557 PER2 8864 broad.mit.edu 37 2 239161798 239161798 + Missense_Mutation SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr2:239161798G>A uc002vyc.2 - 19 3103 c.2866C>T c.(2866-2868)CCC>TCC p.P956S PER2_uc010znv.1_Missense_Mutation_p.P956S NM_022817 NP_073728 O15055 PER2_HUMAN period 2 956 Pro-rich. circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity upper_aerodigestive_tract(1)|breast(1) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) GGCTGTCTGGGGATCGAGGTC 0.667 AQP12A 375318 broad.mit.edu 37 2 241631371 241631371 + Missense_Mutation SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr2:241631371C>T uc002vzu.2 + 1 110 c.41C>T c.(40-42)ACC>ATC p.T14I AQP12A_uc002vzv.2_Intron NM_198998 NP_945349 Q8IXF9 AQ12A_HUMAN aquaporin 12A 14 Helical; Name=1; (Potential). integral to membrane transporter activity 0 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) TTCTTTGCCACCTTCGCCCTC 0.677 SRXN1 140809 broad.mit.edu 37 20 629466 629466 + Silent SNP G A A rs140166119 TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr20:629466G>A uc002wea.2 - 2 367 c.306C>T c.(304-306)TAC>TAT p.Y102Y SRXN1_uc002web.2_RNA NM_080725 NP_542763 Q9BYN0 SRXN1_HUMAN sulfiredoxin 1 homolog 102 response to oxidative stress cytosol antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity ovary(1) 1 GGTAGGCCGCGTAGCGGTGGC 0.617 PROKR2 128674 broad.mit.edu 37 20 5282783 5282783 + Missense_Mutation SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr20:5282783C>T uc010zqw.1 - 2 1058 c.1058G>A c.(1057-1059)CGT>CAT p.R353H PROKR2_uc010zqx.1_Missense_Mutation_p.R353H|PROKR2_uc010zqy.1_Missense_Mutation_p.R353H NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 353 Cytoplasmic (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 CTGGGAGGGACGCCAGTGCAG 0.557 HNSCC(71;0.22) SEL1L2 80343 broad.mit.edu 37 20 13899669 13899669 + Missense_Mutation SNP T A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr20:13899669T>A uc010gcf.2 - 4 466 c.384A>T c.(382-384)GAA>GAT p.E128D SEL1L2_uc002woq.3_Translation_Start_Site|SEL1L2_uc010zrl.1_Missense_Mutation_p.E128D|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 128 Extracellular (Potential).|Sel1-like 1. integral to membrane binding ovary(2) 2 AGACTTACTCTTCTTTTTGTT 0.343 SPAG4 6676 broad.mit.edu 37 20 34206899 34206899 + Missense_Mutation SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr20:34206899G>A uc002xdb.1 + 8 889 c.772G>A c.(772-774)GAC>AAC p.D258N SPAG4_uc010zvi.1_Missense_Mutation_p.D181N NM_003116 NP_003107 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 258 spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity 0 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) GCGGAAGCCCGACTATGCTTT 0.468 PLCG1 5335 broad.mit.edu 37 20 39795447 39795447 + Missense_Mutation SNP T G G TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr20:39795447T>G uc002xjp.1 + 19 2370 c.2249T>G c.(2248-2250)ATG>AGG p.M750R PLCG1_uc002xjo.1_Missense_Mutation_p.M750R|PLCG1_uc010zwe.1_Missense_Mutation_p.M376R|PLCG1_uc010ggf.2_Missense_Mutation_p.M100R NM_182811 NP_877963 P19174 PLCG1_HUMAN phospholipase C, gamma 1 isoform b 750 SH2 2. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity lung(3)|breast(3)|skin(2) 8 Myeloproliferative disorder(115;0.00878) TACCGCAAGATGAAGCTGCGC 0.572 PLCG1 5335 broad.mit.edu 37 20 39795453 39795453 + Missense_Mutation SNP T A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr20:39795453T>A uc002xjp.1 + 19 2376 c.2255T>A c.(2254-2256)CTG>CAG p.L752Q PLCG1_uc002xjo.1_Missense_Mutation_p.L752Q|PLCG1_uc010zwe.1_Missense_Mutation_p.L378Q|PLCG1_uc010ggf.2_Missense_Mutation_p.L102Q NM_182811 NP_877963 P19174 PLCG1_HUMAN phospholipase C, gamma 1 isoform b 752 SH2 2. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity lung(3)|breast(3)|skin(2) 8 Myeloproliferative disorder(115;0.00878) AAGATGAAGCTGCGCTATCCC 0.567 ERG 2078 broad.mit.edu 37 21 39795357 39795357 + Silent SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr21:39795357G>A uc010gnw.2 - 5 679 c.384C>T c.(382-384)AAC>AAT p.N128N ERG_uc002yxa.2_Silent_p.N121N|ERG_uc011aek.1_Silent_p.N29N|ERG_uc010gnv.2_Silent_p.N29N|ERG_uc010gnx.2_Silent_p.N128N|ERG_uc011ael.1_Silent_p.N128N|ERG_uc002yxb.2_Silent_p.N128N|ERG_uc011aem.1_Silent_p.N121N|ERG_uc002yxc.3_Silent_p.N128N NM_001136155 NP_001129627 P11308 ERG_HUMAN ets-related isoform 4 128 PNT. cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162) prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1) 2828 Prostate(19;3.6e-06) CTCTGCGCTCGTTCGTGGTCA 0.602 UBASH3A 53347 broad.mit.edu 37 21 43867265 43867265 + Silent SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr21:43867265C>T uc002zbe.2 + 15 1983 c.1947C>T c.(1945-1947)AAC>AAT p.N649N UBASH3A_uc002zbf.2_Silent_p.N611N|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_3'UTR NM_018961 NP_061834 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing, 649 Phosphatase-like. cytosol|nucleus ovary(3) 3 ACGGGGCGAACGCAGCATTTA 0.527 GAL3ST1 9514 broad.mit.edu 37 22 30951882 30951882 + Silent SNP G A A rs112070427 byFrequency TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr22:30951882G>A uc003aig.1 - 4 470 c.330C>T c.(328-330)AAC>AAT p.N110N GAL3ST1_uc003aih.1_Silent_p.N110N|GAL3ST1_uc003aii.1_Silent_p.N110N|GAL3ST1_uc010gvz.1_Silent_p.N110N NM_004861 NP_004852 Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 110 Lumenal (Potential). protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity 0 CATTGCGGCCGTTAGGGAAGG 0.597 NCRNA00207 388910 broad.mit.edu 37 22 44966379 44966379 + Splice_Site SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr22:44966379G>A uc003bev.1 + 2 104 c.37_splice c.e2-1 p.V13_splice NCRNA00207_uc011aqg.1_Splice_Site|NCRNA00207_uc011aqh.1_Splice_Site NM_001012986 NP_001013004 SubName: Full=Novel gene; 0 CAACAAAACAGGTTCTGTTTA 0.338 PLCD1 5333 broad.mit.edu 37 3 38050824 38050824 + Missense_Mutation SNP C A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr3:38050824C>A uc003chn.2 - 10 1669 c.1545G>T c.(1543-1545)CAG>CAT p.Q515H PLCD1_uc003chm.2_Missense_Mutation_p.Q536H NM_006225 NP_006216 P51178 PLCD1_HUMAN phospholipase C, delta 1 isoform 2 515 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) CGTAGAAGGCCTGTCCAGGGG 0.577 SCN10A 6336 broad.mit.edu 37 3 38783979 38783979 + Missense_Mutation SNP T A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr3:38783979T>A uc003ciq.2 - 13 1909 c.1909A>T c.(1909-1911)AGC>TGC p.S637C NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 637 sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGAGACAAGCTGGTCAAGCAG 0.468 ITIH3 3699 broad.mit.edu 37 3 52842629 52842629 + Missense_Mutation SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr3:52842629G>A uc003dfv.2 + 22 2641 c.2605G>A c.(2605-2607)GTC>ATC p.V869I ITIH3_uc011bek.1_Missense_Mutation_p.V677I NM_002217 NP_002208 Q06033 ITIH3_HUMAN inter-alpha (globulin) inhibitor H3 869 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|liver(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CTGCTGGTTCGTCCACAACAA 0.537 ALG1L 200810 broad.mit.edu 37 3 125651539 125651539 + Silent SNP A C C rs147593769 by1000genomes TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr3:125651539A>C uc003eig.1 - 3 278 c.114T>G c.(112-114)CTT>CTG p.L38L NM_001015050 NP_001015050 Q6GMV1 ALG1L_HUMAN asparagine-linked glycosylation 1-like 38 transferase activity, transferring glycosyl groups 0 CATCAAGAGTAAGTTGTTCAA 0.353 NAALADL2 254827 broad.mit.edu 37 3 174951943 174951943 + Missense_Mutation SNP C G G TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr3:174951943C>G uc003fit.2 + 3 855 c.768C>G c.(766-768)AGC>AGG p.S256R NAALADL2_uc003fiu.1_Missense_Mutation_p.S249R|NAALADL2_uc010hwy.1_Missense_Mutation_p.S78R NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 256 Extracellular (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) AAGATAGCAGCCAAGACCTGC 0.463 YEATS2 55689 broad.mit.edu 37 3 183470006 183470006 + Missense_Mutation SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr3:183470006C>T uc003fly.2 + 10 1310 c.1115C>T c.(1114-1116)TCA>TTA p.S372L NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 372 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding ovary(3)|large_intestine(1) 4 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) ATAAAGCAGTCACATGAGCCA 0.478 VPS8 23355 broad.mit.edu 37 3 184714255 184714255 + Missense_Mutation SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr3:184714255C>T uc003fpb.1 + 43 3967 c.3796C>T c.(3796-3798)CGC>TGC p.R1266C VPS8_uc010hyd.1_Missense_Mutation_p.R1176C|VPS8_uc010hye.1_Missense_Mutation_p.R695C NM_015303 NP_056118 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog isoform b 1268 RING-type; atypical. zinc ion binding ovary(1) 1 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) GTACAAGAGACGCCAAGAAAT 0.413 DGKQ 1609 broad.mit.edu 37 4 956607 956607 + Missense_Mutation SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr4:956607C>T uc003gbw.2 - 17 2062 c.1988G>A c.(1987-1989)CGA>CAA p.R663Q DGKQ_uc010ibn.2_Missense_Mutation_p.R650Q NM_001347 NP_001338 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 663 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding kidney(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GCAGGCCAGTCGGTACCGTGT 0.687 KLHL5 51088 broad.mit.edu 37 4 39116882 39116882 + Missense_Mutation SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr4:39116882G>A uc003gts.2 + 10 2218 c.2143G>A c.(2143-2145)GGG>AGG p.G715R KLHL5_uc003gtp.2_Missense_Mutation_p.G669R|KLHL5_uc003gtq.2_Missense_Mutation_p.G528R|KLHL5_uc003gtr.1_Missense_Mutation_p.G715R|KLHL5_uc003gtt.2_Missense_Mutation_p.G654R NM_015990 NP_057074 Q96PQ7 KLHL5_HUMAN kelch-like 5 isoform 1 715 Kelch 6. cytoplasm|cytoskeleton actin binding ovary(1) 1 TGCTGTTGGGGGGTATGATGG 0.458 IGJ 3512 broad.mit.edu 37 4 71527860 71527860 + Missense_Mutation SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr4:71527860C>T uc003hfn.3 - 2 278 c.137G>A c.(136-138)CGT>CAT p.R46H IGJ_uc010ihz.2_Missense_Mutation_p.R62H NM_144646 NP_653247 P01591 IGJ_HUMAN immunoglobulin J chain 46 immune response extracellular region antigen binding 0 Lung(101;0.235) TTCGGAAGAACGGATGATCCT 0.383 CXXC4 80319 broad.mit.edu 37 4 105412449 105412449 + Missense_Mutation SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr4:105412449G>A uc003hxg.2 - 1 19 c.4C>T c.(4-6)CAC>TAC p.H2Y uc003hxh.1_Intron|CXXC4_uc010ilo.2_Intron NM_025212 NP_079488 Q9H2H0 CXXC4_HUMAN CXXC finger 4 2 negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TTTCGGTGGTGCATGCTGGTC 0.378 CDH18 1016 broad.mit.edu 37 5 19747216 19747216 + Missense_Mutation SNP G T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr5:19747216G>T uc003jgc.2 - 3 735 c.358C>A c.(358-360)CAG>AAG p.Q120K CDH18_uc003jgd.2_Missense_Mutation_p.Q120K|CDH18_uc011cnm.1_Missense_Mutation_p.Q120K NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 120 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) TGGGTCTTCTGCTCTCTGTCT 0.433 PRDM9 56979 broad.mit.edu 37 5 23523414 23523414 + Silent SNP A G G TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr5:23523414A>G uc003jgo.2 + 9 1079 c.897A>G c.(895-897)AGA>AGG p.R299R NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 299 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 CCAAGGGGAGAAACTGCTATG 0.428 HNSCC(3;0.000094) ADAMTS12 81792 broad.mit.edu 37 5 33615934 33615934 + Missense_Mutation SNP T C C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr5:33615934T>C uc003jia.1 - 15 2550 c.2387A>G c.(2386-2388)CAG>CGG p.Q796R ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q711R NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 796 Spacer 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 CTGCATTACCTGGATCCACAC 0.473 HNSCC(64;0.19) MAP3K1 4214 broad.mit.edu 37 5 56168509 56168509 + Missense_Mutation SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr5:56168509C>T uc003jqw.3 + 8 1966 c.1465C>T c.(1465-1467)CCC>TCC p.P489S NM_005921 NP_005912 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 489 RING-type. cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) TTTAATATGTCCCCTTTGTAG 0.279 NAIP 4671 broad.mit.edu 37 5 70308329 70308329 + Silent SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr5:70308329G>A uc003kar.1 - 4 1132 c.414C>T c.(412-414)TAC>TAT p.Y138Y NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Silent_p.Y138Y|NAIP_uc003kas.1_Intron NM_004536 NP_004527 Q13075 BIRC1_HUMAN NLR family, apoptosis inhibitory protein isoform 138 anti-apoptosis|apoptosis|nervous system development basolateral plasma membrane|cytoplasm caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding p.Y138Y(1) central_nervous_system(1) 1 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) CCCTTATGTCGTACTTGGCAA 0.483 FAM81B 153643 broad.mit.edu 37 5 94749771 94749771 + Silent SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr5:94749771C>T uc003kla.1 + 4 460 c.414C>T c.(412-414)GAC>GAT p.D138D FAM81B_uc010jbe.1_5'UTR NM_152548 NP_689761 Q96LP2 FA81B_HUMAN hypothetical protein LOC153643 138 ovary(1)|skin(1) 2 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) TCAAGGAGGACATCTCTGCTT 0.522 PCDHA7 56141 broad.mit.edu 37 5 140215715 140215715 + Missense_Mutation SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr5:140215715C>T uc003lhq.2 + 1 1747 c.1747C>T c.(1747-1749)CGG>TGG p.R583W PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.R583W NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 583 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTTGTGCCGCGGTCTGTGGG 0.657 NMUR2 56923 broad.mit.edu 37 5 151784353 151784353 + Missense_Mutation SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr5:151784353G>A uc003luv.2 - 1 488 c.322C>T c.(322-324)CGC>TGC p.R108C NM_020167 NP_064552 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 108 Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1) 8 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) GGGTAGTTGCGCCACATCTCA 0.587 TIMD4 91937 broad.mit.edu 37 5 156349123 156349123 + Silent SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr5:156349123C>T uc003lwh.2 - 7 1056 c.999G>A c.(997-999)GCG>GCA p.A333A TIMD4_uc010jii.2_Silent_p.A305A|TIMD4_uc003lwg.2_Silent_p.A35A NM_138379 NP_612388 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain 333 Helical; (Potential). integral to membrane ovary(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCAGGAGAAACGCCACAAACA 0.517 MYLIP 29116 broad.mit.edu 37 6 16143302 16143302 + Missense_Mutation SNP A C C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr6:16143302A>C uc003nbq.2 + 4 753 c.516A>C c.(514-516)GAA>GAC p.E172D MYLIP_uc003nbr.2_5'UTR NM_013262 NP_037394 Q8WY64 MYLIP_HUMAN myosin regulatory light chain interacting 172 FERM. cellular component movement|nervous system development cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding pancreas(1) 1 Breast(50;0.0799)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.241) CTTCAGCTGAATACCAAGTTT 0.463 FKSG83 83954 broad.mit.edu 37 6 27293586 27293586 + Silent SNP A G G TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr6:27293586A>G uc010jqt.2 + 1 1009 c.525A>G c.(523-525)AGA>AGG p.R175R FKSG83_uc010jqs.1_3'UTR NM_032030 NP_114419 Q3KNW7 Q3KNW7_HUMAN FKSG83 175 integral to membrane pheromone receptor activity 0 TGCATCAAAGAAATCCTGATA 0.244 SLC22A7 10864 broad.mit.edu 37 6 43267438 43267438 + Missense_Mutation SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr6:43267438G>A uc003out.2 + 4 676 c.577G>A c.(577-579)GTC>ATC p.V193I SLC22A7_uc010jyl.1_Missense_Mutation_p.V191I|SLC22A7_uc003ous.2_Missense_Mutation_p.V191I NM_153320 NP_696961 Q9Y694 S22A7_HUMAN solute carrier family 22 member 7 isoform b 193 Helical; (Potential). basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity 0 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) TGCAGCCTCCGTCAGCTATGT 0.587 AARS2 57505 broad.mit.edu 37 6 44270876 44270876 + Frame_Shift_Del DEL C - - TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr6:44270876delC uc010jza.1 - 16 2185 c.2182delG c.(2182-2184)GTGfs p.V728fs SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 728 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding ovary(1) 1 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) GCCACGGGCACCCCCACTGAT 0.602 MEP1A 4224 broad.mit.edu 37 6 46806843 46806843 + Silent SNP C T T rs139598232 byFrequency TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr6:46806843C>T uc010jzh.1 + 14 2253 c.2211C>T c.(2209-2211)ATC>ATT p.I737I MEP1A_uc011dwg.1_Silent_p.I459I|MEP1A_uc011dwh.1_Silent_p.I765I|MEP1A_uc011dwi.1_Silent_p.I637I NM_005588 NP_005579 Q16819 MEP1A_HUMAN meprin A alpha precursor 737 Helical; (Potential). digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding pancreas(2)|ovary(1) 3 Lung(136;0.192) TCTCCATCATCGCCATCCTTT 0.602 C6orf221 154288 broad.mit.edu 37 6 74073290 74073290 + Missense_Mutation SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr6:74073290G>A uc003pgt.3 + 3 414 c.361G>A c.(361-363)GCC>ACC p.A121T NM_001017361 NP_001017361 Q587J8 ECAT1_HUMAN hypothetical protein LOC154288 121 skin(2) 2 CTCAGGAAAGGCCCTCGCCCA 0.617 MACC1 346389 broad.mit.edu 37 7 20198221 20198221 + Missense_Mutation SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr7:20198221G>A uc003sus.3 - 5 2072 c.1763C>T c.(1762-1764)GCT>GTT p.A588V MACC1_uc010kug.2_Missense_Mutation_p.A588V NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN putative binding protein 7a5 588 SH3. positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity ovary(2)|skin(1) 3 CTGACCAATAGCTTTTACCTT 0.418 Unknown 0 broad.mit.edu 37 7 39873998 39873998 + Missense_Mutation SNP A G G TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr7:39873998A>G uc010kxp.2 + 2 1106 c.749A>G c.(748-750)GAA>GGA p.E250G SubName: Full=Similar to sequence-specific single-stranded-DNA-binding protein; GCCCTCCAGGAACACCCATTA 0.567 EGFR 1956 broad.mit.edu 37 7 55214352 55214352 + Missense_Mutation SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr7:55214352G>A uc003tqk.2 + 4 724 c.478G>A c.(478-480)GAG>AAG p.E160K EGFR_uc003tqh.2_Missense_Mutation_p.E160K|EGFR_uc003tqi.2_Missense_Mutation_p.E160K|EGFR_uc003tqj.2_Missense_Mutation_p.E160K|EGFR_uc010kzg.1_Intron|EGFR_uc011kco.1_Missense_Mutation_p.E107K NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 160 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GTGCAACGTGGAGAGCATCCA 0.552 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) EGFR 1956 broad.mit.edu 37 7 55221822 55221822 + Missense_Mutation SNP C T T rs149840192 TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr7:55221822C>T uc003tqk.2 + 7 1112 c.866C>T c.(865-867)GCC>GTC p.A289V EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 289 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGCTTTGGTGCCACCTGCGTG 0.592 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) COL1A2 1278 broad.mit.edu 37 7 94056341 94056341 + Missense_Mutation SNP G C C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr7:94056341G>C uc003ung.1 + 47 3598 c.3127G>C c.(3127-3129)GCT>CCT p.A1043P COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 1043 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) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGATCAAGGTGCTCCTGGCTC 0.458 HNSCC(75;0.22) NPTX2 4885 broad.mit.edu 37 7 98254262 98254262 + Silent SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr7:98254262G>A uc003upl.2 + 3 849 c.672G>A c.(670-672)GCG>GCA p.A224A NM_002523 NP_002514 P47972 NPTX2_HUMAN neuronal pentraxin II precursor 224 synaptic transmission extracellular region metal ion binding|sugar binding central_nervous_system(2)|skin(1) 3 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) CACCAGATGCGTTCAAGGTGT 0.602 TRRAP 8295 broad.mit.edu 37 7 98528341 98528341 + Missense_Mutation SNP G T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr7:98528341G>T uc003upp.2 + 25 3688 c.3479G>T c.(3478-3480)GGT>GTT p.G1160V TRRAP_uc011kis.1_Missense_Mutation_p.G1160V|TRRAP_uc003upr.2_Missense_Mutation_p.G852V NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 1160 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AAGCTGGGGGGTGTGGTGTCT 0.517 IFRD1 3475 broad.mit.edu 37 7 112112859 112112859 + Silent SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr7:112112859C>T uc003vgh.2 + 12 1652 c.1209C>T c.(1207-1209)CCC>CCT p.P403P IFRD1_uc011kmn.1_Silent_p.P353P|IFRD1_uc003vgj.2_Silent_p.P403P|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_Silent_p.P353P|IFRD1_uc003vgk.2_Silent_p.P120P NM_001007245 NP_001007246 O00458 IFRD1_HUMAN interferon-related developmental regulator 1 403 LGPPVMLDAAT -> TWTPSDALMLQR (in Ref. 1; CAA71366). multicellular organismal development|myoblast cell fate determination binding kidney(1)|central_nervous_system(1) 2 AACTTGGACCCCCAGTGATGC 0.353 GIMAP6 474344 broad.mit.edu 37 7 150324938 150324938 + Missense_Mutation SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr7:150324938C>T uc003whn.2 - 3 1172 c.748G>A c.(748-750)GAA>AAA p.E250K GIMAP6_uc003whm.2_Missense_Mutation_p.E170K NM_024711 NP_078987 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 250 GTP binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACTTGCCTTTCCTGTAGTTCT 0.493 ABP1 26 broad.mit.edu 37 7 150558161 150558161 + Missense_Mutation SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr7:150558161C>T uc003why.1 + 6 6338 c.2120C>T c.(2119-2121)TCC>TTC p.S707F ABP1_uc003whz.1_Missense_Mutation_p.S707F|ABP1_uc003wia.1_Missense_Mutation_p.S726F NM_001091 NP_001082 P19801 ABP1_HUMAN amiloride binding protein 1 precursor 707 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding ovary(2)|breast(2)|skin(2) 6 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) GAGGACCCCTCCCTGGCATCC 0.622 ZMAT4 79698 broad.mit.edu 37 8 40554861 40554861 + Missense_Mutation SNP G T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr8:40554861G>T uc003xnr.2 - 4 398 c.252C>A c.(250-252)TTC>TTA p.F84L ZMAT4_uc003xns.2_Missense_Mutation_p.F84L NM_024645 NP_078921 Q9H898 ZMAT4_HUMAN zinc finger, matrin type 4 isoform a 84 Matrin-type 2. nucleus DNA binding|zinc ion binding pancreas(1)|central_nervous_system(1)|skin(1) 3 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) CCGCTGAAGTGAATGACATGT 0.498 MCM4 4173 broad.mit.edu 37 8 48874694 48874694 + Missense_Mutation SNP G C C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr8:48874694G>C uc003xqk.1 + 4 412 c.317G>C c.(316-318)GGT>GCT p.G106A PRKDC_uc003xqi.2_5'Flank|PRKDC_uc003xqj.2_5'Flank|PRKDC_uc011ldh.1_5'Flank|MCM4_uc003xql.1_Missense_Mutation_p.G106A|MCM4_uc011ldi.1_Missense_Mutation_p.G93A|MCM4_uc010lxw.1_Intron NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 106 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(2)|skin(2) 4 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) CCAAGAAGTGGTGTTAGGGGC 0.527 RPL7 6129 broad.mit.edu 37 8 74205020 74205022 + In_Frame_Del DEL CTT - - rs151181576 TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr8:74205020_74205022delCTT uc003xzg.2 - 2 47_49 c.25_27delAAG c.(25-27)AAGdel p.K9del RPL7_uc003xzh.1_5'UTR|RDH10_uc003xzi.2_5'Flank NM_000971 NP_000962 P18124 RL7_HUMAN ribosomal protein L7 9 1.|4 X 12 AA tandem repeats. endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome 0 Breast(64;0.0954) Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134) CAGGAACCTCCTTCTTCTTCTCT 0.414 VPS13B 157680 broad.mit.edu 37 8 100568723 100568723 + Silent SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr8:100568723C>T uc003yiv.2 + 31 4977 c.4866C>T c.(4864-4866)ATC>ATT p.I1622I VPS13B_uc003yiw.2_Silent_p.I1597I NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1622 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GATCAGAAATCGAAGACAGAC 0.398 CSMD3 114788 broad.mit.edu 37 8 113702122 113702122 + Nonsense_Mutation SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr8:113702122C>T uc003ynu.2 - 14 2289 c.2130G>A c.(2128-2130)TGG>TGA p.W710* CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Nonsense_Mutation_p.W670*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.W606* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 710 Extracellular (Potential).|Sushi 3. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TGTTTGCAGACCATTGGTTAT 0.358 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) DENND4C 55667 broad.mit.edu 37 9 19360386 19360386 + Missense_Mutation SNP A G G TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr9:19360386A>G uc003znq.2 + 24 4483 c.4450A>G c.(4450-4452)ATC>GTC p.I1484V DENND4C_uc011lnc.1_Missense_Mutation_p.I814V|DENND4C_uc011lnd.1_Missense_Mutation_p.I772V|DENND4C_uc003znr.2_Missense_Mutation_p.I772V|DENND4C_uc003zns.2_Missense_Mutation_p.I666V NM_017925 NP_060395 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 1484 integral to membrane ovary(1)|skin(1) 2 TCAACATCCAATCATTTTCTG 0.388 C9orf84 158401 broad.mit.edu 37 9 114462255 114462255 + Silent SNP G A A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr9:114462255G>A uc004bfr.2 - 22 3105 c.2970C>T c.(2968-2970)AAC>AAT p.N990N C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Silent_p.N951N|C9orf84_uc010mug.2_Silent_p.N901N NM_173521 NP_775792 Q5VXU9 CI084_HUMAN hypothetical protein LOC158401 isoform 1 990 ovary(2) 2 GTTCTTCAGAGTTTAGCCCAA 0.313 P2RY8 286530 broad.mit.edu 37 X 1584686 1584686 + Missense_Mutation SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chrX:1584686C>T uc004cpz.2 - 2 1014 c.766G>A c.(766-768)GTG>ATG p.V256M NM_178129 NP_835230 Q86VZ1 P2RY8_HUMAN G-protein coupled purinergic receptor P2Y8 256 Helical; Name=6; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(5) 5 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCCAGGAGCACGAAGTTGTTG 0.647 T CRLF2 B-ALL|Downs associated ALL FOXR2 139628 broad.mit.edu 37 X 55650462 55650462 + Silent SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chrX:55650462C>T uc004duo.2 + 1 630 c.318C>T c.(316-318)AAC>AAT p.N106N NM_198451 NP_940853 Q6PJQ5 FOXR2_HUMAN forkhead box R2 106 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding lung(2)|central_nervous_system(1) 3 ATCTGACAAACATTTCTCCTT 0.542 MUM1L1 139221 broad.mit.edu 37 X 105450617 105450617 + Frame_Shift_Del DEL T - - TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chrX:105450617delT uc004emf.1 + 4 1841 c.1192delT c.(1192-1194)TTTfs p.F398fs MUM1L1_uc004emg.1_Frame_Shift_Del_p.F398fs NM_152423 NP_689636 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 398 PWWP. ovary(2)|pancreas(1)|skin(1) 4 GATAGTCTGGTTTAAATATCA 0.358 AGTR2 186 broad.mit.edu 37 X 115304521 115304521 + Missense_Mutation SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chrX:115304521C>T uc004eqh.3 + 3 1195 c.988C>T c.(988-990)CGC>TGC p.R330C NM_000686 NP_000677 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 330 Cytoplasmic (Potential). behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity ovary(2)|lung(1) 3 ACAGAAGCTCCGCAGTGTGTT 0.463 MAGEC3 139081 broad.mit.edu 37 X 140966989 140966989 + Missense_Mutation SNP G C C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chrX:140966989G>C uc011mwp.1 + 3 287 c.287G>C c.(286-288)GGT>GCT p.G96A NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 96 skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GGGTCCCCAGGTTTACAACTT 0.582 FLNA 2316 broad.mit.edu 37 X 153588445 153588445 + Missense_Mutation SNP C T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chrX:153588445C>T uc004fkk.2 - 22 3967 c.3718G>A c.(3718-3720)GTG>ATG p.V1240M FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.V1240M NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 1240 Filamin 10. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AAGTTGGGCACGGGCTGGCCG 0.627 PCDH11Y 83259 broad.mit.edu 37 Y 5605460 5605460 + Missense_Mutation SNP G T T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chrY:5605460G>T uc004fqo.2 + 5 4234 c.3500G>T c.(3499-3501)AGC>ATC p.S1167I NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked isoform c 1167 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 CTATGCCACAGCCCACCACTG 0.552