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 CHD5 26038 broad.mit.edu 37 1 6194862 6194862 + Silent SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr1:6194862G>A uc001amb.1 - 19 3028 c.2928C>T c.(2926-2928)GGC>GGT p.G976G CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 976 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CTTGGTTCCCGCCCCCCTTGG 0.582000 RPL22 6146 broad.mit.edu 37 1 6253081 6253081 + Missense_Mutation SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr1:6253081C>T uc001amd.2 - 3 197 c.151G>A c.(151-153)GGA>AGA p.G51R RPL22_uc001ame.2_Missense_Mutation_p.G51R NM_000983 NP_000974 P35268 RL22_HUMAN ribosomal protein L22 proprotein 51 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit heparin binding|RNA binding|structural constituent of ribosome 0 Ovarian(185;0.0634) all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) CCAGCTTTTCCGTTCACTTTG 0.443000 T RUNX1 AML|CML C1orf173 127254 broad.mit.edu 37 1 75072545 75072545 + Missense_Mutation SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr1:75072545G>A uc001dgg.2 - 10 1448 c.1229C>T c.(1228-1230)CCG>CTG p.P410L uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.P204L NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 410 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CCTAGATTTCGGCAAAGACGG 0.408000 PAPPA2 60676 broad.mit.edu 37 1 176769239 176769239 + Missense_Mutation SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr1:176769239G>A uc001gkz.2 + 21 6337 c.5173G>A c.(5173-5175)GTC>ATC p.V1725I PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1725 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CCCAGACCCCGTCTTAGTCCA 0.478000 CR1 1378 broad.mit.edu 37 1 207753744 207753744 + Missense_Mutation SNP A A C TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr1:207753744A>C uc001hfy.2 + 22 3886 c.3746A>C c.(3745-3747)GAA>GCA p.E1249A CR1_uc009xcl.1_Missense_Mutation_p.E799A|CR1_uc001hfx.2_Missense_Mutation_p.E1699A NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1249 Extracellular (Potential).|Sushi 19. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 TGGAGCCCTGAAGCCCCGAGA 0.507000 SEMA4G 57715 broad.mit.edu 37 10 102737410 102737410 + Missense_Mutation SNP C C T rs145690277 TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr10:102737410C>T uc010qpt.1 + 5 801 c.358C>T c.(358-360)CGG>TGG p.R120W SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krw.1_Missense_Mutation_p.R120W|SEMA4G_uc001krx.2_Missense_Mutation_p.R120W NM_017893 NP_060363 Q9NTN9 SEM4G_HUMAN semaphorin 4G 120 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(1) 1 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) TAACCATGTGCGGTTCCTGCA 0.527000 ZP1 22917 broad.mit.edu 37 11 60640735 60640735 + Silent SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr11:60640735C>T uc001nqd.2 + 7 1233 c.1213C>T c.(1213-1215)CTG>TTG p.L405L ZP1_uc001nqe.2_Silent_p.L112L NM_207341 NP_997224 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 precursor 405 Extracellular (Potential).|ZP. single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix 0 GCCCGGCCCCCTGCGGCTTGA 0.602000 KRT86 3892 broad.mit.edu 37 12 52695729 52695729 + Missense_Mutation SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr12:52695729G>A uc010snq.1 + 2 162 c.29G>A c.(28-30)CGC>CAC p.R10H KRT86_uc009zmg.2_Missense_Mutation_p.R10H|KRT81_uc001sac.2_Intron|KRT86_uc001sad.2_Missense_Mutation_p.R10H NM_002284 NP_002275 O43790 KRT86_HUMAN keratin 86 10 Head. cytoskeleton organization keratin filament structural molecule activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(357;0.189) TGTGGTGGCCGCGCCTTCAGC 0.662000 PLXNC1 10154 broad.mit.edu 37 12 94642052 94642052 + Missense_Mutation SNP T T C TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr12:94642052T>C uc001tdc.2 + 14 2891 c.2642T>C c.(2641-2643)CTC>CCC p.L881P NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 881 Extracellular (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 GAAATTACTCTCTTCCATGGG 0.323000 ATP12A 479 broad.mit.edu 37 13 25274960 25274960 + Missense_Mutation SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr13:25274960C>T uc001upp.2 + 13 1968 c.1781C>T c.(1780-1782)CCG>CTG p.P594L ATP12A_uc010aaa.2_Missense_Mutation_p.P600L NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 594 Cytoplasmic (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) ATGAACTTTCCGACCTCCAAC 0.488000 OR4M1 441670 broad.mit.edu 37 14 20248864 20248864 + Missense_Mutation SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr14:20248864G>A uc010tku.1 + 1 383 c.383G>A c.(382-384)CGA>CAA p.R128Q NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 128 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCTATCTGCCGACCCCTCCAC 0.512000 CTCF 10664 broad.mit.edu 37 16 67650711 67650711 + Missense_Mutation SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr16:67650711G>A uc002etl.2 + 5 1306 c.1016G>A c.(1015-1017)CGG>CAG p.R339Q CTCF_uc010cek.2_Missense_Mutation_p.R11Q NM_006565 NP_006556 P49711 CTCF_HUMAN CCCTC-binding factor 339 C2H2-type 3. R -> W (in a Wilms' tumor). chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) GAATTGGTTCGGCATCGTCGT 0.483000 CDH1 999 broad.mit.edu 37 16 68842633 68842633 + Missense_Mutation SNP A A G TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr16:68842633A>G uc002ewg.1 + 5 693 c.569A>G c.(568-570)TAC>TGC p.Y190C CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.Y190C NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 190 Cadherin 1.|Extracellular (Potential). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) AAGGTTTTCTACAGCATCACT 0.423000 Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer MYH10 4628 broad.mit.edu 37 17 8424505 8424505 + Missense_Mutation SNP G G T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr17:8424505G>T uc002gll.2 - 16 2059 c.1963C>A c.(1963-1965)CAA>AAA p.Q655K MYH10_uc002glm.2_Missense_Mutation_p.Q686K|MYH10_uc010cnx.2_Missense_Mutation_p.Q664K NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 655 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 TTGTAGAGTTGCCCAACGGTA 0.473000 GPR179 440435 broad.mit.edu 37 17 36499035 36499035 + Missense_Mutation SNP T T C TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr17:36499035T>C uc002hpz.2 - 1 659 c.638A>G c.(637-639)AAG>AGG p.K213R NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 213 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CTGCGGCCACTTGGGGCTGCC 0.637000 ZNF536 9745 broad.mit.edu 37 19 30935607 30935607 + Missense_Mutation SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr19:30935607C>T uc002nsu.1 + 2 1276 c.1138C>T c.(1138-1140)CGG>TGG p.R380W ZNF536_uc010edd.1_Missense_Mutation_p.R380W NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 380 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GATCTGCGGCCGGCGCTTCAA 0.597000 NLRP5 126206 broad.mit.edu 37 19 56565060 56565060 + Missense_Mutation SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr19:56565060C>T uc002qmj.2 + 13 3185 c.3185C>T c.(3184-3186)TCG>TTG p.S1062L NLRP5_uc002qmi.2_Missense_Mutation_p.S1043L NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 1062 mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TGTGTGATCTCGAGGAGCAGA 0.567000 POTEE 445582 broad.mit.edu 37 2 132021446 132021446 + Silent SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr2:132021446C>T uc002tsn.2 + 15 2470 c.2418C>T c.(2416-2418)ACC>ACT p.T806T PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.T406T|POTEE_uc002tsl.2_Silent_p.T388T|POTEE_uc010fmy.1_Silent_p.T270T NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 806 Actin-like. ATP binding 0 TCCTGCTGACCGAGGCCCCCC 0.597000 TTN 7273 broad.mit.edu 37 2 179640850 179640850 + Missense_Mutation SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr2:179640850G>A uc010zfg.1 - 28 5965 c.5741C>T c.(5740-5742)GCG>GTG p.A1914V TTN_uc010zfh.1_Missense_Mutation_p.A1868V|TTN_uc010zfi.1_Missense_Mutation_p.A1868V|TTN_uc010zfj.1_Missense_Mutation_p.A1868V|TTN_uc002unb.2_Missense_Mutation_p.A1914V|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1914 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.A1914V(2)|p.A1868V(1) 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) AGGATTTTCCGCGGTGACCTT 0.458000 DNAH7 56171 broad.mit.edu 37 2 196689076 196689076 + Missense_Mutation SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr2:196689076C>T uc002utj.3 - 49 9295 c.9194G>A c.(9193-9195)CGG>CAG p.R3065Q NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3065 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 GTCCCCAAGCCGGATACATGT 0.413000 XKR7 343702 broad.mit.edu 37 20 30585193 30585193 + Missense_Mutation SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr20:30585193C>T uc002wxe.2 + 3 1847 c.1673C>T c.(1672-1674)ACG>ATG p.T558M NM_001011718 NP_001011718 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related 558 integral to membrane ovary(1)|breast(1)|skin(1) 3 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TCACCTGCCACGCCCCGGTTG 0.582000 SLC32A1 140679 broad.mit.edu 37 20 37356775 37356775 + Silent SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr20:37356775C>T uc002xjc.2 + 2 1334 c.1071C>T c.(1069-1071)GTC>GTT p.V357V NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 357 Helical; (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) TCGCGCTCGTCGCCTACCTCA 0.627000 MC3R 4159 broad.mit.edu 37 20 54824440 54824440 + Missense_Mutation SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr20:54824440G>A uc002xxb.2 + 1 653 c.541G>A c.(541-543)GTC>ATC p.V181I NM_019888 NP_063941 P41968 MC3R_HUMAN melanocortin 3 receptor 218 Helical; Name=4; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding p.V218I(1) ovary(2)|breast(2) 4 Colorectal(105;0.202) GGTGTTCATCGTCTACTCGGA 0.562000 GRIK1 2897 broad.mit.edu 37 21 30949440 30949440 + Missense_Mutation SNP G G T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr21:30949440G>T uc002yno.1 - 14 2438 c.1974C>A c.(1972-1974)TTC>TTA p.F658L GRIK1_uc002ynn.2_Missense_Mutation_p.F643L|GRIK1_uc011acs.1_Missense_Mutation_p.F658L|GRIK1_uc011act.1_Missense_Mutation_p.F519L NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 658 Helical; (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TGATTAGGGTGAAAAACCACC 0.463000 C3orf20 84077 broad.mit.edu 37 3 14744671 14744671 + Silent SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr3:14744671G>A uc003byy.2 + 6 1184 c.780G>A c.(778-780)CCG>CCA p.P260P C3orf20_uc003byz.2_Silent_p.P138P|C3orf20_uc003bza.2_Silent_p.P138P|C3orf20_uc003byx.1_Silent_p.P260P NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 260 cytoplasm|integral to membrane ovary(3)|skin(1) 4 TCAGCATGCCGCCCCTGCATC 0.463000 MTMR12 54545 broad.mit.edu 37 5 32239240 32239240 + Missense_Mutation SNP A A C TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr5:32239240A>C uc003jhq.2 - 13 1381 c.1211T>G c.(1210-1212)CTG>CGG p.L404R MTMR12_uc010iuk.2_Missense_Mutation_p.L404R|MTMR12_uc010iul.2_Missense_Mutation_p.L404R NM_001040446 NP_001035536 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 404 Myotubularin phosphatase. cytoplasm phosphatase activity ovary(1) 1 CAGTTGCACCAGAGAGGAAAT 0.512000 CMYA5 202333 broad.mit.edu 37 5 79025999 79025999 + Missense_Mutation SNP G G A rs114134827 by1000genomes TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr5:79025999G>A uc003kgc.2 + 2 1483 c.1411G>A c.(1411-1413)GCA>ACA p.A471T NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 471 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) ACCAGTCTCCGCAAAACTGAC 0.512000 TNXB 7148 broad.mit.edu 37 6 32052314 32052314 + Silent SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr6:32052314G>A uc003nzl.2 - 8 3523 c.3321C>T c.(3319-3321)CCC>CCT p.P1107P NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 1194 Fibronectin type-III 4. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 GTCCTTCCACGGGCACCACCT 0.612000 ADRA1A 148 broad.mit.edu 37 8 26722428 26722428 + Missense_Mutation SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr8:26722428G>A uc003xfh.1 - 1 495 c.59C>T c.(58-60)CCG>CTG p.P20L ADRA1A_uc003xfc.1_Missense_Mutation_p.P20L|ADRA1A_uc010lul.1_Missense_Mutation_p.P20L|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.P20L|ADRA1A_uc010lum.1_Missense_Mutation_p.P20L|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.P20L NM_000680 NP_000671 P35348 ADA1A_HUMAN alpha-1A-adrenergic receptor isoform 1 20 Extracellular (By similarity). activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) AATGTTCACCGGTGCCGGCGG 0.617000 POTEA 340441 broad.mit.edu 37 8 43197470 43197470 + Missense_Mutation SNP C C A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr8:43197470C>A uc003xpz.1 + 11 1402 c.1359C>A c.(1357-1359)AAC>AAA p.N453K POTEA_uc003xqa.1_Missense_Mutation_p.N407K NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 453 ovary(1) 1 TGGATTTTAACGGTAGGACCA 0.373000 PLAG1 5324 broad.mit.edu 37 8 57079229 57079229 + Missense_Mutation SNP T T C TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr8:57079229T>C uc003xsq.3 - 3 1527 c.1076A>G c.(1075-1077)TAC>TGC p.Y359C PLAG1_uc003xsr.3_Missense_Mutation_p.Y359C|PLAG1_uc010lyi.2_Missense_Mutation_p.Y359C|PLAG1_uc010lyj.2_Missense_Mutation_p.Y277C NM_001114635 NP_001108107 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 isoform b 359 Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3) salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1) 129 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) CTCCATCAGGTAACTCTCAAT 0.443000 T TCEA1|LIFR|CTNNB1|CHCHD7 salivary adenoma CHD7 55636 broad.mit.edu 37 8 61654739 61654739 + Missense_Mutation SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr8:61654739C>T uc003xue.2 + 2 1225 c.748C>T c.(748-750)CGT>TGT p.R250C NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 250 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) ACCTTCCTTGCGTCACTCGGT 0.582000 COL22A1 169044 broad.mit.edu 37 8 139737660 139737660 + Silent SNP G G T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr8:139737660G>T uc003yvd.2 - 24 2610 c.2163C>A c.(2161-2163)GTC>GTA p.V721V COL22A1_uc011ljo.1_Silent_p.V21V NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 721 Collagen-like 5.|Pro-rich.|Gly-rich. cell adhesion collagen|cytoplasm structural molecule activity p.V721A(1) ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGGGGCCTGGGACACCAGGGG 0.587000 HNSCC(7;0.00092) REPS2 9185 broad.mit.edu 37 X 17153511 17153511 + Missense_Mutation SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chrX:17153511C>T uc004cxv.1 + 16 1961 c.1790C>T c.(1789-1791)CCG>CTG p.P597L REPS2_uc004cxw.1_Missense_Mutation_p.P596L|REPS2_uc011miw.1_Missense_Mutation_p.P395L NM_004726 NP_004717 Q8NFH8 REPS2_HUMAN RALBP1 associated Eps domain containing 2 597 Interaction with ASAP1 (By similarity).|Interaction with RALBP1. epidermal growth factor receptor signaling pathway|protein complex assembly cytoplasm calcium ion binding|protein binding skin(2)|central_nervous_system(1) 3 Hepatocellular(33;0.183) ACCATGAAACCGCATCCAACA 0.463000 TSPAN7 7102 broad.mit.edu 37 X 38420808 38420808 + Silent SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chrX:38420808G>A uc004deg.3 + 1 78 c.9G>A c.(7-9)TCG>TCA p.S3S TSPAN7_uc011mkj.1_5'UTR|TSPAN7_uc011mkk.1_Silent_p.S3S NM_004615 NP_004606 P41732 TSN7_HUMAN tetraspanin 7 3 Cytoplasmic (Potential). interspecies interaction between organisms integral to plasma membrane ovary(1) 1 GTATGGCATCGAGGAGAATGG 0.428000 PAK3 5063 broad.mit.edu 37 X 110406248 110406248 + Missense_Mutation SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chrX:110406248G>A uc004epa.2 + 6 646 c.619G>A c.(619-621)GCA>ACA p.A207T PAK3_uc010npt.1_Missense_Mutation_p.A192T|PAK3_uc010npu.1_Missense_Mutation_p.A192T|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.A192T|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.A228T|PAK3_uc010npw.1_Missense_Mutation_p.A213T NM_001128173 NP_001121645 O75914 PAK3_HUMAN p21-activated kinase 3 isoform d 207 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding lung(6)|ovary(3)|large_intestine(1) 10 ACCAGTTATCGCACCAAGACC 0.333000 TSP Lung(19;0.15) NKAP 79576 broad.mit.edu 37 X 119077495 119077495 + Missense_Mutation SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chrX:119077495G>A uc004esh.2 - 1 241 c.74C>T c.(73-75)TCG>TTG p.S25L NM_024528 NP_078804 Q8N5F7 NKAP_HUMAN NFKB activating protein 25 Ser-rich. negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding ovary(2) 2 CGGACTCTTCGACGAACTGCG 0.701000 ODZ1 10178 broad.mit.edu 37 X 123525997 123525997 + Missense_Mutation SNP T T C TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chrX:123525997T>C uc004euj.2 - 27 5636 c.5572A>G c.(5572-5574)ACG>GCG p.T1858A ODZ1_uc011muj.1_Missense_Mutation_p.T1864A|ODZ1_uc010nqy.2_Missense_Mutation_p.T1865A NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1858 Extracellular (Potential).|YD 6. immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TCATTCCACGTTCCTCTTTGA 0.403000 ZC3H11A 9877 broad.mit.edu 37 1 203797521 203797521 + Frame_Shift_Del DEL T T - TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr1:203797521delT uc001hac.2 + 7 885 c.269delT c.(268-270)GTTfs p.V90fs ZC3H11A_uc001had.2_Frame_Shift_Del_p.V90fs|ZC3H11A_uc001hae.2_Frame_Shift_Del_p.V90fs|ZC3H11A_uc001haf.2_Frame_Shift_Del_p.V90fs|ZC3H11A_uc010pqm.1_Frame_Shift_Del_p.V36fs|ZC3H11A_uc001hag.1_Frame_Shift_Del_p.V90fs NM_014827 NP_055642 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 90 nucleic acid binding|protein binding|zinc ion binding lung(1)|central_nervous_system(1) 2 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) GGACGATATGTTGATGGCCTT 0.289 CHTF18 63922 broad.mit.edu 37 16 839270 839270 + Frame_Shift_Del DEL A A - TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr16:839270delA uc002cke.3 + 3 410 c.347delA c.(346-348)GAGfs p.E116fs RPUSD1_uc002cka.2_5'Flank|RPUSD1_uc002ckb.2_5'Flank|RPUSD1_uc002ckc.2_5'Flank|RPUSD1_uc002ckd.2_5'Flank|CHTF18_uc010uus.1_Frame_Shift_Del_p.E116fs|CHTF18_uc010bre.1_RNA|CHTF18_uc002ckf.3_Frame_Shift_Del_p.E144fs|CHTF18_uc010brf.2_5'UTR|CHTF18_uc002ckg.3_Intron NM_022092 NP_071375 Q8WVB6 CTF18_HUMAN CTF18, chromosome transmission fidelity factor 116 cell cycle|DNA replication nucleus ATP binding|DNA binding|nucleoside-triphosphatase activity kidney(1) 1 Hepatocellular(780;0.00335) AGATCGGAGGAGATGGAGGAG 0.667 ALG13 79868 broad.mit.edu 37 X 110952207 110952207 + Frame_Shift_Del DEL G G - TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chrX:110952207delG uc011msy.1 + 5 799 c.765delG c.(763-765)CAGfs p.Q255fs ALG13_uc011msw.1_Frame_Shift_Del_p.Q177fs|ALG13_uc011msx.1_Frame_Shift_Del_p.Q151fs|ALG13_uc011msz.1_Frame_Shift_Del_p.Q177fs|ALG13_uc011mta.1_Frame_Shift_Del_p.Q151fs|ALG13_uc011mtb.1_Frame_Shift_Del_p.Q151fs Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 255 OTU. dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity lung(1) 1 TTTGCAGCCAGGTCCATCATT 0.393 TECPR2 9895 broad.mit.edu 37 14 102904453 102904469 + Frame_Shift_Del DEL GCGGCCTGTTCTGCAGC GCGGCCTGTTCTGCAGC - rs12890730 TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 g.chr14:102904452_102904468GGCGGCCTGTTCTGCAGC>G uc001ylw.2 + 9 2714_2730 c.2488_2504GGCGGCCTGTTCTGCAGC>G c.(2488-2505)ggcggcctgttctgcagcfs p.G830fs TECPR2_uc010awl.3_Frame_Shift_Del_p.G830fs|TECPR2_uc010txx.2_Intron NM_014844 NP_055659 O15040 TCPR2_HUMAN Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA. 830 protein binding p.L832L(2)|p.G830G(2) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 GGACTACAAAGGCGGCCTGTTCTGCAGCGCGTTGCCG 0.618 OREG0022547 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)