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 C1QC 714 broad.mit.edu 37 1 22974057 22974057 + Silent SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr1:22974057G>A uc001bgc.3 + 3 622 c.519G>A c.(517-519)TCG>TCA p.S173S C1QC_uc001bga.3_Silent_p.S173S|C1QC_uc001bgb.2_Silent_p.S173S NM_172369 NP_758957 P02747 C1QC_HUMAN complement component 1, q subcomponent, C chain 173 C1q. complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation collagen 0 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ACCACGCGTCGCATACAGCCA 0.582000 SMAP2 64744 broad.mit.edu 37 1 40887656 40887656 + Silent SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr1:40887656G>A uc001cfj.2 + 10 1238 c.1173G>A c.(1171-1173)CAG>CAA p.Q391Q SMAP2_uc001cfk.2_Silent_p.Q361Q|SMAP2_uc010oji.1_Silent_p.Q308Q|SMAP2_uc010ojj.1_Silent_p.Q207Q NM_022733 NP_073570 Q8WU79 SMAP2_HUMAN small ArfGAP2 391 Interaction with PICALM (By similarity).|Met-rich. regulation of ARF GTPase activity cytoplasm|nucleus ARF GTPase activator activity|zinc ion binding 0 Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.04e-17) AGATGACCCAGCAGATGGCTG 0.517000 NOTCH2 4853 broad.mit.edu 37 1 120539720 120539720 + Silent SNP G G A rs150410907 TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr1:120539720G>A uc001eik.2 - 4 907 c.651C>T c.(649-651)TAC>TAT p.Y217Y NOTCH2_uc001eil.2_Silent_p.Y217Y|NOTCH2_uc001eim.3_Silent_p.Y134Y NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 217 Extracellular (Potential).|EGF-like 5; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GGCTGTCACAGTACTGGCCTG 0.572000 N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome ECM1 1893 broad.mit.edu 37 1 150484934 150484934 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr1:150484934C>T uc001eus.2 + 8 1389 c.1190C>T c.(1189-1191)GCC>GTC p.A397V ECM1_uc001eut.2_Missense_Mutation_p.A272V|ECM1_uc001euu.2_Missense_Mutation_p.A426V|ECM1_uc001euv.2_Missense_Mutation_p.A424V|ECM1_uc009wlu.2_Missense_Mutation_p.A157V NM_004425 NP_004416 Q16610 ECM1_HUMAN extracellular matrix protein 1 isoform 1 397 2 X approximate repeats.|2. angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GAGTGCTTTGCCCGTCGGGCT 0.567000 NCSTN 23385 broad.mit.edu 37 1 160326122 160326122 + Silent SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr1:160326122C>T uc001fvx.2 + 14 1748 c.1624C>T c.(1624-1626)CTA>TTA p.L542L NCSTN_uc001fvy.2_Silent_p.L522L|NCSTN_uc010pjf.1_Silent_p.L404L|NCSTN_uc001fvz.2_Silent_p.L322L|NCSTN_uc010pjg.1_Silent_p.L284L NM_015331 NP_056146 Q92542 NICA_HUMAN nicastrin precursor 542 Extracellular (Potential). amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding ovary(1)|lung(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CAGGCAGGACCTAAGGTCCTA 0.428000 TADA1 117143 broad.mit.edu 37 1 166833124 166833124 + Silent SNP G G A rs141542819 TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr1:166833124G>A uc001gdw.2 - 4 451 c.267C>T c.(265-267)TCC>TCT p.S89S TADA1_uc001gdv.2_5'Flank|TADA1_uc009wve.2_Silent_p.S89S NM_053053 NP_444281 Q96BN2 TADA1_HUMAN transcriptional adaptor 1-like 89 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(1) 1 GTTTTGCTGCGGAACCCCCTG 0.378000 NAV1 89796 broad.mit.edu 37 1 201618003 201618003 + Silent SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr1:201618003C>T uc001gwu.2 + 1 554 c.207C>T c.(205-207)TCC>TCT p.S69S NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 69 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 TCTTCAAGTCCGGCAGCGTGG 0.448000 TARBP1 6894 broad.mit.edu 37 1 234603278 234603278 + Missense_Mutation SNP C C A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr1:234603278C>A uc001hwd.2 - 4 1218 c.1218G>T c.(1216-1218)AAG>AAT p.K406N NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 406 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity ovary(2)|skin(1) 3 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) ATGGAAGAATCTTTGTTTCAT 0.373000 PPPDE1 51029 broad.mit.edu 37 1 244855285 244855285 + Missense_Mutation SNP A A G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr1:244855285A>G uc001iao.2 + 4 578 c.314A>G c.(313-315)CAT>CGT p.H105R PPPDE1_uc001iap.2_Missense_Mutation_p.H72R NM_016076 NP_057160 Q9BSY9 PPDE1_HUMAN PPPDE peptidase domain containing 1 105 PPPDE peptidase. breast(3) 3 CATTTAATGCATAAAAACTGC 0.313000 OR2L3 391192 broad.mit.edu 37 1 248224128 248224128 + Missense_Mutation SNP T T C TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr1:248224128T>C uc001idx.1 + 1 145 c.145T>C c.(145-147)TTC>CTC p.F49L OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 49 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TCTTCTCATCTTCTTGGACAC 0.413000 ZNF33A 7581 broad.mit.edu 37 10 38345151 38345151 + Missense_Mutation SNP A A C TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr10:38345151A>C uc001izh.2 + 5 2274 c.2096A>C c.(2095-2097)AAA>ACA p.K699T ZNF33A_uc001izg.2_Missense_Mutation_p.K700T|ZNF33A_uc010qev.1_Missense_Mutation_p.K706T|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 699 C2H2-type 14. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 GAATGTGGGAAATTCTTCAGG 0.383000 GPAM 57678 broad.mit.edu 37 10 113917036 113917036 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr10:113917036C>T uc009xxy.1 - 19 2290 c.2092G>A c.(2092-2094)GGG>AGG p.G698R GPAM_uc001kzp.2_Missense_Mutation_p.G698R|GPAM_uc001kzq.1_Missense_Mutation_p.G698R NM_020918 NP_065969 Q9HCL2 GPAT1_HUMAN mitochondrial glycerol 3-phosphate 698 Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (Potential). phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity ovary(1)|skin(1) 2 Epithelial(162;0.0306)|all cancers(201;0.123) TGTTCCTCCCCAAAGTCACTG 0.463000 STIM1 6786 broad.mit.edu 37 11 4112528 4112528 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr11:4112528G>A uc001lyv.2 + 12 2126 c.1558G>A c.(1558-1560)GAT>AAT p.D520N STIM1_uc009yef.2_Missense_Mutation_p.R532Q|STIM1_uc009yeg.2_Missense_Mutation_p.D347N NM_003156 NP_003147 Q13586 STIM1_HUMAN stromal interaction molecule 1 precursor 520 Cytoplasmic (Potential). activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding pancreas(1) 1 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) GACCCATTCCGATTCGGAGTC 0.468000 CKAP5 9793 broad.mit.edu 37 11 46799045 46799045 + Missense_Mutation SNP T T G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr11:46799045T>G uc001ndi.1 - 23 2916 c.2806A>C c.(2806-2808)AAG>CAG p.K936Q CKAP5_uc009ylg.1_Missense_Mutation_p.K822Q|CKAP5_uc001ndj.1_Missense_Mutation_p.K936Q NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 936 HEAT 6. cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 ACATGTTGCTTAATATTTGGG 0.428000 LRP4 4038 broad.mit.edu 37 11 46918479 46918479 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr11:46918479C>T uc001ndn.3 - 8 1009 c.863G>A c.(862-864)CGC>CAC p.R288H NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 288 Extracellular (Potential).|LDL-receptor class A 7. 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) CCCATCACAGCGCCAGGACAG 0.577000 OR5T2 219464 broad.mit.edu 37 11 56000616 56000616 + Missense_Mutation SNP G G T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr11:56000616G>T uc010rjc.1 - 1 46 c.46C>A c.(46-48)CAT>AAT p.H16N NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) ACAACACCATGACTCAAGGGG 0.348000 ATM 472 broad.mit.edu 37 11 108192027 108192027 + Splice_Site SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr11:108192027G>A uc001pkb.1 + 45 6838 c.6453_splice c.e45-1 p.R2151_splice ATM_uc009yxr.1_Splice_Site_p.R2151_splice|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Splice_Site_p.R803_splice|ATM_uc001pkg.1_Splice_Site_p.R508_splice NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TTTGCTACTAGAGTAAAAGAA 0.398000 D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) TNFRSF1A 7132 broad.mit.edu 37 12 6439826 6439826 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr12:6439826G>A uc001qnu.2 - 7 958 c.677C>T c.(676-678)TCC>TTC p.S226F TNFRSF1A_uc001qnt.2_Missense_Mutation_p.S118F|TNFRSF1A_uc010sey.1_5'UTR|TNFRSF1A_uc010sez.1_Missense_Mutation_p.S118F|TNFRSF1A_uc009zek.2_Missense_Mutation_p.S183F NM_001065 NP_001056 P19438 TNR1A_HUMAN tumor necrosis factor receptor 1 precursor 226 Helical; (Potential). apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process extracellular region|integral to plasma membrane|membrane raft tumor necrosis factor receptor activity lung(2)|skin(1) 3 GAAGAGGAGGGATAAAAGGCA 0.562000 TAS2R9 50835 broad.mit.edu 37 12 10962536 10962536 + Missense_Mutation SNP T T C TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr12:10962536T>C uc001qyx.2 - 1 232 c.139A>G c.(139-141)ATC>GTC p.I47V TAS2R8_uc010shh.1_5'Flank NM_023917 NP_076406 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 47 Cytoplasmic (Potential). sensory perception of taste integral to membrane taste receptor activity skin(1) 1 CTGATCAGGATGATGTCAATC 0.413000 EPS8 2059 broad.mit.edu 37 12 15784459 15784459 + Missense_Mutation SNP A A T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr12:15784459A>T uc009zif.2 - 18 2055 c.1961T>A c.(1960-1962)ATA>AAA p.I654K EPS8_uc001rdb.2_Missense_Mutation_p.I654K|EPS8_uc009zig.2_Missense_Mutation_p.I394K|EPS8_uc010shv.1_Missense_Mutation_p.I394K NM_004447 NP_004438 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway 654 cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) TTGACGTGTTATATTTGCTGG 0.557000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr12:25398284C>T uc001rgp.1 - 2 216 c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) SHMT2 6472 broad.mit.edu 37 12 57626616 57626616 + Nonsense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr12:57626616C>T uc001snf.1 + 7 857 c.847C>T c.(847-849)CGA>TGA p.R283* SHMT2_uc001sng.1_Nonsense_Mutation_p.R179*|SHMT2_uc001snh.1_Nonsense_Mutation_p.R122*|SHMT2_uc009zpk.1_Nonsense_Mutation_p.R273*|SHMT2_uc001sni.1_Nonsense_Mutation_p.R262*|SHMT2_uc010srg.1_Nonsense_Mutation_p.R292*|SHMT2_uc001snj.1_Nonsense_Mutation_p.R187*|SHMT2_uc010srh.1_Nonsense_Mutation_p.R262*|SHMT2_uc001snk.1_Nonsense_Mutation_p.R187*|SHMT2_uc010sri.1_Nonsense_Mutation_p.R262*|SHMT2_uc001snl.2_Nonsense_Mutation_p.R187*|SHMT2_uc010srj.1_5'Flank NM_005412 NP_005403 P34897 GLYM_HUMAN serine hydroxymethyltransferase 2 283 microtubule cytoskeleton|mitochondrial nucleoid glycine hydroxymethyltransferase activity|methyltransferase activity ovary(1)|central_nervous_system(1) 2 Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CAAGACTCTTCGAGGGGCCAG 0.602000 PLXNC1 10154 broad.mit.edu 37 12 94562997 94562997 + Silent SNP A A T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr12:94562997A>T uc001tdc.2 + 2 1380 c.1131A>T c.(1129-1131)ACA>ACT p.T377T NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 377 Extracellular (Potential).|Sema. axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 CCGACCTGACATCCGTTTATG 0.433000 ACACB 32 broad.mit.edu 37 12 109613985 109613985 + Missense_Mutation SNP A A T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr12:109613985A>T uc001tob.2 + 9 1473 c.1354A>T c.(1354-1356)ATG>TTG p.M452L ACACB_uc001toc.2_Missense_Mutation_p.M452L NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 452 Biotin carboxylation.|ATP-grasp. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) TTTTCCATTGATGATCAAAGC 0.512000 KCTD10 83892 broad.mit.edu 37 12 109889615 109889615 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr12:109889615C>T uc001toi.1 - 7 815 c.727G>A c.(727-729)GAG>AAG p.E243K KCTD10_uc001toh.1_RNA|KCTD10_uc009zvi.1_Missense_Mutation_p.E217K|KCTD10_uc001toj.1_Missense_Mutation_p.E252K|KCTD10_uc001tok.1_Missense_Mutation_p.E62K NM_031954 NP_114160 Q9H3F6 BACD3_HUMAN potassium channel tetramerisation domain 243 PCNA-binding (By similarity). proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex voltage-gated potassium channel activity 0 TCGGGAAACTCCACCTGTGTT 0.582000 TMEM132D 121256 broad.mit.edu 37 12 129694077 129694077 + Silent SNP T T C TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr12:129694077T>C uc009zyl.1 - 5 1759 c.1431A>G c.(1429-1431)GAA>GAG p.E477E NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 477 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TAATCACGTCTTCATCAGACG 0.532000 TMEM132D 121256 broad.mit.edu 37 12 130184802 130184802 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr12:130184802C>T uc009zyl.1 - 2 849 c.521G>A c.(520-522)CGA>CAA p.R174Q NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 174 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TCGGGTCTCTCGGAAAGCAAA 0.682000 SACS 26278 broad.mit.edu 37 13 23910025 23910025 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr13:23910025C>T uc001uon.2 - 10 8579 c.7990G>A c.(7990-7992)GGA>AGA p.G2664R SACS_uc001uoo.2_Missense_Mutation_p.G2517R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 2664 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AACATGCGTCCGGGACTAATG 0.418000 DCLK1 9201 broad.mit.edu 37 13 36700222 36700222 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr13:36700222G>A uc001uvf.2 - 2 286 c.53C>T c.(52-54)GCG>GTG p.A18V NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 18 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) GTATCTCTGCGCCTTATCCCG 0.622000 KLF12 11278 broad.mit.edu 37 13 74419995 74419995 + Silent SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr13:74419995C>T uc001vjf.2 - 4 861 c.639G>A c.(637-639)CCG>CCA p.P213P KLF12_uc010aeq.2_Silent_p.P213P|KLF12_uc001vjg.3_Silent_p.P213P NM_007249 NP_009180 Q9Y4X4 KLF12_HUMAN Kruppel-like factor 12 213 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 Prostate(6;0.00217)|Breast(118;0.0838) GBM - Glioblastoma multiforme(99;0.00677) CCTCCAAAAGCGGCACGACAA 0.468000 POTEG 404785 broad.mit.edu 37 14 19553604 19553604 + Missense_Mutation SNP A A G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr14:19553604A>G uc001vuz.1 + 1 240 c.188A>G c.(187-189)AAG>AGG p.K63R POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 63 ovary(1) 1 AAGATGGGCAAGTGGTGCCGC 0.602000 LRFN5 145581 broad.mit.edu 37 14 42356791 42356791 + Missense_Mutation SNP T T G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr14:42356791T>G uc001wvm.2 + 3 2161 c.963T>G c.(961-963)ATT>ATG p.I321M LRFN5_uc010ana.2_Missense_Mutation_p.I321M NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 321 Extracellular (Potential).|Ig-like. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TTCACTGGATTTCTCCTGAAG 0.453000 HNSCC(30;0.082) ATP6V1D 51382 broad.mit.edu 37 14 67815774 67815774 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr14:67815774G>A uc001xjf.2 - 4 463 c.287C>T c.(286-288)GCG>GTG p.A96V ATP6V1D_uc001xje.2_RNA NM_015994 NP_057078 Q9Y5K8 VATD_HUMAN H(+)-transporting two-sector ATPase 96 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex protein binding|proton-transporting ATPase activity, rotational mechanism ovary(1)|lung(1) 2 all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957) ATCTTTCTTCGCTCGAATCTT 0.358000 FLRT2 23768 broad.mit.edu 37 14 86088964 86088964 + Missense_Mutation SNP T T G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr14:86088964T>G uc001xvr.2 + 2 1873 c.1106T>G c.(1105-1107)CTC>CGC p.L369R FLRT2_uc010atd.2_Missense_Mutation_p.L369R NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 369 Extracellular (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) GGCCTGCCTCTCTTCACCCCA 0.562000 RIN3 79890 broad.mit.edu 37 14 93118175 93118175 + Missense_Mutation SNP C C A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr14:93118175C>A uc001yap.2 + 6 933 c.781C>A c.(781-783)CCT>ACT p.P261T RIN3_uc010auk.2_5'UTR|RIN3_uc001yaq.2_Missense_Mutation_p.P186T|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 261 Pro-rich. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding lung(2)|ovary(1) 3 all_cancers(154;0.0701) CCCTGCACGCCCTTTGCCGCC 0.468000 TRAF3 7187 broad.mit.edu 37 14 103371927 103371927 + Nonsense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr14:103371927C>T uc001ymc.1 + 12 1866 c.1513C>T c.(1513-1515)CGA>TGA p.R505* TRAF3_uc001yme.1_Nonsense_Mutation_p.R480*|TRAF3_uc001ymd.1_Nonsense_Mutation_p.R505*|TRAF3_uc010txy.1_Nonsense_Mutation_p.R422* NM_145725 NP_663777 Q13114 TRAF3_HUMAN TNF receptor-associated factor 3 isoform 1 505 MATH. apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) GGGGTCCTCTCGACGTCATTT 0.517000 POLG 5428 broad.mit.edu 37 15 89872248 89872248 + Nonsense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr15:89872248G>A uc002bns.3 - 4 1231 c.949C>T c.(949-951)CAG>TAG p.Q317* POLG_uc002bnr.3_Nonsense_Mutation_p.Q317* NM_002693 NP_002684 P54098 DPOG1_HUMAN DNA-directed DNA polymerase gamma 317 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding ovary(1)|lung(1) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) TGTTTGCCCTGCTTGGCTGCT 0.592000 DNA_polymerases_(catalytic_subunits) TBL3 10607 broad.mit.edu 37 16 2028044 2028044 + Missense_Mutation SNP G G A rs149719588 by1000genomes TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr16:2028044G>A uc002cnu.1 + 19 2146 c.2044G>A c.(2044-2046)GTG>ATG p.V682M TBL3_uc002cnv.1_Missense_Mutation_p.V568M|TBL3_uc010bsb.1_Intron|TBL3_uc010bsc.1_Missense_Mutation_p.V549M|TBL3_uc010uvt.1_Missense_Mutation_p.V151M|TBL3_uc002cnw.1_RNA NM_006453 NP_006444 Q12788 TBL3_HUMAN transducin beta-like 3 682 G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing nucleolus|small-subunit processome receptor signaling protein activity 0 GCCCCACACCGTGCTGACTGT 0.677000 ZNF598 90850 broad.mit.edu 37 16 2048404 2048404 + Missense_Mutation SNP G G C TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr16:2048404G>C uc002cof.1 - 14 2559 c.2544C>G c.(2542-2544)AAC>AAG p.N848K ZNF598_uc002coe.1_Missense_Mutation_p.N212K NM_178167 NP_835461 Q86UK7 ZN598_HUMAN zinc finger protein 598 848 intracellular zinc ion binding lung(1)|breast(1) 2 CGCTCTTCTTGTTCTTCTTGG 0.657000 ABAT 18 broad.mit.edu 37 16 8866677 8866677 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr16:8866677C>T uc002czc.3 + 12 1023 c.857C>T c.(856-858)ACG>ATG p.T286M ABAT_uc002czd.3_Missense_Mutation_p.T286M|ABAT_uc010buh.2_Missense_Mutation_p.T228M|ABAT_uc010bui.2_Missense_Mutation_p.T286M NM_020686 NP_065737 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase precursor 286 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding upper_aerodigestive_tract(1) 1 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) AAGAAGAAGACGGTGGCCGGG 0.552000 TNRC6A 27327 broad.mit.edu 37 16 24816169 24816169 + Missense_Mutation SNP A A T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr16:24816169A>T uc002dmm.2 + 13 4095 c.3981A>T c.(3979-3981)AGA>AGT p.R1327S TNRC6A_uc010bxs.2_Missense_Mutation_p.R1074S|TNRC6A_uc002dmn.2_Intron|TNRC6A_uc002dmo.2_Intron|TNRC6A_uc002dmp.2_Intron|TNRC6A_uc002dmq.2_5'UTR NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1327 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) ATTCTGTTAGACAGGTAAGTC 0.403000 PSKH1 5681 broad.mit.edu 37 16 67943097 67943097 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr16:67943097C>T uc002euv.2 + 2 615 c.445C>T c.(445-447)CGG>TGG p.R149W PSKH1_uc010cet.2_Missense_Mutation_p.R149W NM_006742 NP_006733 P11801 KPSH1_HUMAN protein serine kinase H1 149 Protein kinase. endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane ATP binding|protein serine/threonine kinase activity 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128) TGTGCTGCGTCGGGTGCGTCA 0.607000 ATXN7L3 56970 broad.mit.edu 37 17 42271971 42271971 + Missense_Mutation SNP C C A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr17:42271971C>A uc002iga.2 - 11 900 c.809G>T c.(808-810)AGC>ATC p.S270I ATXN7L3_uc010wiv.1_Missense_Mutation_p.S52I|ATXN7L3_uc002ifz.2_Missense_Mutation_p.S277I NM_001098833 NP_001092303 Q14CW9 AT7L3_HUMAN ataxin 7-like 3 isoform b 270 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding 0 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) CTGAAGCCGGCTGATCAGGGC 0.557000 EPB41L3 23136 broad.mit.edu 37 18 5398077 5398077 + Silent SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr18:5398077C>T uc002kmt.1 - 17 2501 c.2415G>A c.(2413-2415)GCG>GCA p.A805A EPB41L3_uc010wzh.1_Silent_p.A636A|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Silent_p.A110A|EPB41L3_uc010wzf.1_Silent_p.A102A|EPB41L3_uc010wzg.1_Silent_p.A77A|EPB41L3_uc010dkr.2_Silent_p.A197A NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 805 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 TTGGTTTTCGCGCAGACTCTA 0.448000 EPB41L3 23136 broad.mit.edu 37 18 5424307 5424307 + Missense_Mutation SNP C C A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr18:5424307C>A uc002kmt.1 - 10 1203 c.1117G>T c.(1117-1119)GCC>TCC p.A373S EPB41L3_uc010wzh.1_Missense_Mutation_p.A373S|EPB41L3_uc002kmu.1_Missense_Mutation_p.A373S|EPB41L3_uc010dkq.1_Missense_Mutation_p.A264S|EPB41L3_uc010dkr.2_5'Flank NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 373 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 AAACGCTTGGCAGCTCGATGG 0.294000 ZNF345 25850 broad.mit.edu 37 19 37367987 37367987 + Silent SNP T T A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr19:37367987T>A uc002oex.2 + 3 633 c.255T>A c.(253-255)ACT>ACA p.T85T ZNF345_uc002oey.3_Silent_p.T85T|ZNF345_uc002oez.2_Intron NM_003419 NP_003410 Q14585 ZN345_HUMAN zinc finger protein 345 85 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAATTCATACTGGTGAGAAAC 0.398000 ZNF585A 199704 broad.mit.edu 37 19 37643342 37643342 + Missense_Mutation SNP T T G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr19:37643342T>G uc002ofo.1 - 5 1690 c.1459A>C c.(1459-1461)ACT>CCT p.T487P ZNF585A_uc002ofm.1_Missense_Mutation_p.T432P|ZNF585A_uc002ofn.1_Missense_Mutation_p.T432P NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN zinc finger protein 585A 487 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCTGTATGAGTTTTCTGATGT 0.408000 EGLN2 112398 broad.mit.edu 37 19 41313417 41313417 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr19:41313417G>A uc010ehd.2 + 11 2130 c.1129G>A c.(1129-1131)GCC>ACC p.A377T EGLN2_uc002opg.3_Missense_Mutation_p.A377T|EGLN2_uc002oph.2_Missense_Mutation_p.A377T|EGLN2_uc002opi.2_Missense_Mutation_p.A377T NM_080732 NP_542770 Q96KS0 EGLN2_HUMAN EGL nine (C.elegans) homolog 2 377 cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia cytoplasm|nucleus ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity ovary(2) 2 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Vitamin C(DB00126) GTATTTTGATGCCAAGGAGCG 0.537000 OREG0025478 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZSCAN18 65982 broad.mit.edu 37 19 58596469 58596469 + Silent SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr19:58596469C>T uc002qri.2 - 7 1425 c.1116G>A c.(1114-1116)CCG>CCA p.P372P ZSCAN18_uc002qrj.3_Silent_p.P371P|ZSCAN18_uc010yhs.1_Silent_p.P236P|ZSCAN18_uc002qrh.2_Silent_p.P372P|ZSCAN18_uc010yht.1_Silent_p.P428P|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR NM_001145543 NP_001139015 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 372 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCTCGGGGTGCGGCCTCTTGG 0.721000 LPIN1 23175 broad.mit.edu 37 2 11964841 11964841 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr2:11964841C>T uc010yjn.1 + 21 2871 c.2597C>T c.(2596-2598)ACC>ATC p.T866I LPIN1_uc010yjm.1_Missense_Mutation_p.T951I|LPIN1_uc002rbt.2_Missense_Mutation_p.T866I|LPIN1_uc010yjo.1_Missense_Mutation_p.T367I NM_145693 NP_663731 Q14693 LPIN1_HUMAN lipin 1 866 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) TGTTCGGATACCTTCAGTAAC 0.478000 XDH 7498 broad.mit.edu 37 2 31572580 31572580 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr2:31572580G>A uc002rnv.1 - 26 3020 c.2941C>T c.(2941-2943)CGG>TGG p.R981W NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 981 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TCACTCTTCCGAGCATGATAC 0.483000 VIT 5212 broad.mit.edu 37 2 37035950 37035950 + Silent SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr2:37035950C>T uc002rpl.2 + 15 1946 c.1725C>T c.(1723-1725)AAC>AAT p.N575N VIT_uc002rpm.2_Silent_p.N553N|VIT_uc010ezv.2_Silent_p.N531N|VIT_uc010ezw.2_Silent_p.N532N NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN vitrin 560 VWFA 2. proteinaceous extracellular matrix ovary(1)|pancreas(1) 2 all_hematologic(82;0.248) ACATCCTCAACGCCATCAAGA 0.592000 NMS 129521 broad.mit.edu 37 2 101099720 101099720 + Silent SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr2:101099720G>A uc002tan.1 + 10 463 c.456G>A c.(454-456)CAG>CAA p.Q152Q NM_001011717 NP_001011717 Q5H8A3 NMS_HUMAN neuromedin S precursor 152 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region ovary(1) 1 TTAGGATTCAGTGGTGAAAGA 0.348000 MFSD9 84804 broad.mit.edu 37 2 103335364 103335364 + Missense_Mutation SNP A A C TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr2:103335364A>C uc002tcb.2 - 6 1008 c.940T>G c.(940-942)TTT>GTT p.F314V MFSD9_uc010fja.2_RNA NM_032718 NP_116107 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 314 transmembrane transport integral to membrane|plasma membrane transporter activity ovary(2)|breast(2) 4 CGCACCCCAAAGCGCTCCTCC 0.582000 TUBA3E 112714 broad.mit.edu 37 2 130951728 130951728 + Silent SNP G G T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr2:130951728G>T uc002tqv.2 - 4 788 c.687C>A c.(685-687)CGC>CGA p.R229R NM_207312 NP_997195 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 229 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 Colorectal(110;0.1) GCCCAATCAGGCGATTGAGGT 0.537000 YSK4 80122 broad.mit.edu 37 2 135745629 135745629 + Silent SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr2:135745629C>T uc002tue.1 - 7 844 c.813G>A c.(811-813)TCG>TCA p.S271S YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.S158S|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_5'UTR|YSK4_uc002tui.3_Silent_p.S288S NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 271 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) GATCCATCAACGACTTAACTA 0.483000 TTN 7273 broad.mit.edu 37 2 179402435 179402435 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr2:179402435C>T uc010zfg.1 - 304 92019 c.91795G>A c.(91795-91797)GAT>AAT p.D30599N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D24294N|TTN_uc010zfi.1_Missense_Mutation_p.D24227N|TTN_uc010zfj.1_Missense_Mutation_p.D24102N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 31526 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) ACACCTTCATCTTCCTGTTCC 0.438000 TTN 7273 broad.mit.edu 37 2 179472999 179472999 + Silent SNP T T C TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr2:179472999T>C uc010zfg.1 - 224 45131 c.44907A>G c.(44905-44907)GGA>GGG p.G14969G uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G8664G|TTN_uc010zfi.1_Silent_p.G8597G|TTN_uc010zfj.1_Silent_p.G8472G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15896 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) CATAGGTGAGTCCTTCTAATA 0.428000 ITGA4 3676 broad.mit.edu 37 2 182343498 182343498 + Missense_Mutation SNP T T A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr2:182343498T>A uc002unu.2 + 5 1334 c.571T>A c.(571-573)TTT>ATT p.F191I ITGA4_uc010zfl.1_Missense_Mutation_p.F191I NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 191 FG-GAP 3.|Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TGTGAAAAAATTTGGAGAAAA 0.244000 DNER 92737 broad.mit.edu 37 2 230312248 230312248 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr2:230312248C>T uc002vpv.2 - 8 1417 c.1270G>A c.(1270-1272)GGA>AGA p.G424R DNER_uc010zly.1_Missense_Mutation_p.G152R NM_139072 NP_620711 Q8NFT8 DNER_HUMAN delta-notch-like EGF repeat-containing 424 Extracellular (Potential).|EGF-like 5. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity lung(5)|ovary(2)|skin(1) 8 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) CAAGCAGATCCGAAGTATCCT 0.453000 GHRH 2691 broad.mit.edu 37 20 35884866 35884866 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr20:35884866C>T uc002xgr.2 - 2 119 c.119G>A c.(118-120)AGC>AAC p.S40N GHRH_uc002xgs.2_Missense_Mutation_p.S40N|GHRH_uc002xgt.2_Missense_Mutation_p.S40N NM_021081 NP_066567 P01286 SLIB_HUMAN growth hormone releasing hormone preproprotein 40 activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food extracellular space|terminal button growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding ovary(1) 1 Myeloproliferative disorder(115;0.00878) CTTCCGGTAGCTGTTGGTGAA 0.622000 COPG 22820 broad.mit.edu 37 3 128987415 128987415 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr3:128987415C>T uc003els.2 + 17 1826 c.1726C>T c.(1726-1728)CTC>TTC p.L576F COPG_uc010htb.2_Missense_Mutation_p.L482F NM_016128 NP_057212 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 576 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(3)|breast(1) 4 ACCTTTTGACCTCAAGTCTGT 0.562000 TRIML1 339976 broad.mit.edu 37 4 189061023 189061023 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr4:189061023C>T uc003izm.1 + 1 426 c.311C>T c.(310-312)GCG>GTG p.A104V NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 104 multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) ACTGCCAAGGCGCTCTCCGAT 0.642000 SLC9A3 6550 broad.mit.edu 37 5 475096 475096 + Silent SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr5:475096C>T uc003jbe.2 - 16 2515 c.2403G>A c.(2401-2403)CTG>CTA p.L801L SLC9A3_uc011clx.1_Silent_p.L792L|LOC25845_uc003jbd.2_5'Flank|LOC25845_uc010itb.1_5'Flank NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 801 Cytoplasmic (Potential). cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) GGAAGGGCATCAGGCGGCAGA 0.711000 SLC9A3 6550 broad.mit.edu 37 5 475129 475129 + Missense_Mutation SNP C C G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr5:475129C>G uc003jbe.2 - 16 2482 c.2370G>C c.(2368-2370)CAG>CAC p.Q790H SLC9A3_uc011clx.1_Missense_Mutation_p.Q781H|LOC25845_uc003jbd.2_5'Flank|LOC25845_uc010itb.1_5'Flank NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 790 Cytoplasmic (Potential). cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) AGTAGGGAATCTGCGTGCGGG 0.706000 SLC9A3 6550 broad.mit.edu 37 5 475242 475242 + Missense_Mutation SNP C C G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr5:475242C>G uc003jbe.2 - 16 2369 c.2257G>C c.(2257-2259)GAC>CAC p.D753H SLC9A3_uc011clx.1_Missense_Mutation_p.D744H|LOC25845_uc003jbd.2_5'Flank|LOC25845_uc010itb.1_5'Flank NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 753 Cytoplasmic (Potential). cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) ACAGGGTTGTCAATTCCTAGG 0.687000 CTNND2 1501 broad.mit.edu 37 5 10992707 10992707 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr5:10992707G>A uc003jfa.1 - 19 3312 c.3167C>T c.(3166-3168)ACG>ATG p.T1056M CTNND2_uc010itt.2_Missense_Mutation_p.T965M|CTNND2_uc011cmy.1_Missense_Mutation_p.T719M|CTNND2_uc011cmz.1_Missense_Mutation_p.T623M|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.T648M NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 1056 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 GATGGAGGGCGTGCGGGAGGA 0.582000 DNAH5 1767 broad.mit.edu 37 5 13717530 13717530 + Missense_Mutation SNP T T A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr5:13717530T>A uc003jfd.2 - 73 12641 c.12599A>T c.(12598-12600)AAG>ATG p.K4200M DNAH5_uc003jfc.2_Missense_Mutation_p.K368M NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4200 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.K4200T(1) ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GGCACCGAACTTGCGCCTCTC 0.552000 Kartagener_syndrome ZFYVE16 9765 broad.mit.edu 37 5 79733463 79733463 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr5:79733463G>A uc003kgr.3 + 4 1261 c.959G>A c.(958-960)AGA>AAA p.R320K ZFYVE16_uc010jak.1_Missense_Mutation_p.R320K|ZFYVE16_uc003kgp.2_Missense_Mutation_p.R320K|ZFYVE16_uc003kgq.3_Missense_Mutation_p.R320K|ZFYVE16_uc003kgs.3_Missense_Mutation_p.R320K NM_001105251 NP_001098721 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 320 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity 0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) TCAAATTCAAGAGATGAAAAT 0.343000 PCDHA9 9752 broad.mit.edu 37 5 140229950 140229950 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr5:140229950G>A uc003lhu.2 + 1 2594 c.1870G>A c.(1870-1872)GTG>ATG p.V624M 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_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.V624M NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 624 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding p.V624M(1) large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCGTTCCGCGTGGGGCTGTA 0.672000 PCDHAC2 56134 broad.mit.edu 37 5 140346755 140346755 + Missense_Mutation SNP A A T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr5:140346755A>T uc003lii.2 + 1 644 c.404A>T c.(403-405)GAG>GTG p.E135V 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_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.E135V NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN protocadherin alpha subfamily C, 2 isoform 1 135 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCGCCGTTGAGGTGGAAATA 0.622000 PCDHGA5 56110 broad.mit.edu 37 5 140745345 140745345 + Missense_Mutation SNP A A G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr5:140745345A>G uc003lju.1 + 1 1448 c.1448A>G c.(1447-1449)GAC>GGC p.D483G PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.D483G NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 483 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACAGCGGCGACAACGCTCGA 0.542000 GABRG2 2566 broad.mit.edu 37 5 161576230 161576230 + Missense_Mutation SNP T T G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr5:161576230T>G uc003lyz.3 + 8 1397 c.1039T>G c.(1039-1041)TTC>GTC p.F347V GABRG2_uc010jjc.2_Missense_Mutation_p.F387V|GABRG2_uc003lyy.3_Missense_Mutation_p.F347V|GABRG2_uc011dej.1_Missense_Mutation_p.F252V NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 347 Helical; (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) CATCTTTGTCTTCTCTGCTCT 0.448000 TDP2 51567 broad.mit.edu 37 6 24654688 24654688 + Missense_Mutation SNP A A C TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr6:24654688A>C uc003nej.2 - 5 613 c.588T>G c.(586-588)ATT>ATG p.I196M TDP2_uc003nei.2_Missense_Mutation_p.I84M|TDP2_uc010jpu.1_Missense_Mutation_p.I196M NM_016614 NP_057698 O95551 TYDP2_HUMAN TRAF and TNF receptor-associated protein 196 cell surface receptor linked signaling pathway|double-strand break repair PML body 5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity ovary(1)|lung(1) 2 GAAAAGGAATAATCTCTTGGC 0.284000 Direct_reversal_of_damage|Editing_and_processing_nucleases PRSS35 167681 broad.mit.edu 37 6 84233267 84233267 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr6:84233267G>A uc003pjz.2 + 2 270 c.107G>A c.(106-108)CGG>CAG p.R36Q PRSS35_uc010kbm.2_Missense_Mutation_p.R36Q NM_153362 NP_699193 Q8N3Z0 PRS35_HUMAN protease, serine, 35 precursor 36 proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) AAGGTACCCCGGATTGTCAGT 0.453000 CNR1 1268 broad.mit.edu 37 6 88854252 88854252 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr6:88854252C>T uc011dzq.1 - 2 4305 c.742G>A c.(742-744)GCC>ACC p.A248T CNR1_uc010kbz.2_Missense_Mutation_p.A248T|CNR1_uc011dzr.1_Missense_Mutation_p.A248T|CNR1_uc011dzs.1_Missense_Mutation_p.A248T|CNR1_uc003pmq.3_Missense_Mutation_p.A248T|CNR1_uc011dzt.1_Missense_Mutation_p.A248T|CNR1_uc010kca.2_Missense_Mutation_p.A215T NM_001160260 NP_001153732 P21554 CNR1_HUMAN cannabinoid receptor 1 isoform a 248 Helical; Name=4; (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding skin(2) 2 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) GGCAGCACGGCGATCACAATG 0.527000 MICAL1 64780 broad.mit.edu 37 6 109767510 109767510 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr6:109767510G>A uc003ptj.2 - 18 2664 c.2410C>T c.(2410-2412)CGG>TGG p.R804W MICAL1_uc003ptk.2_Missense_Mutation_p.R804W|MICAL1_uc010kdr.2_Missense_Mutation_p.R718W|MICAL1_uc011eaq.1_Missense_Mutation_p.R823W NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN microtubule associated monoxygenase, calponin 804 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding breast(2)|ovary(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) CGGATCTGCCGACGGGTGGGC 0.662000 DNAH11 8701 broad.mit.edu 37 7 21628979 21628979 + Missense_Mutation SNP C C A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr7:21628979C>A uc003svc.2 + 12 2158 c.2127C>A c.(2125-2127)TTC>TTA p.F709L NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 709 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TGGTTAAATTCAGTGCCATAA 0.318000 Kartagener_syndrome INHBA 3624 broad.mit.edu 37 7 41739722 41739722 + Missense_Mutation SNP A A T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr7:41739722A>T uc003thq.2 - 1 486 c.251T>A c.(250-252)CTG>CAG p.L84Q LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Missense_Mutation_p.L84Q|LOC285954_uc003ths.2_Intron NM_002192 NP_002183 P08476 INHBA_HUMAN inhibin beta A precursor 84 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity lung(5)|ovary(1) 6 GATCGCGTTCAGAAGCGCCGC 0.517000 TSP Lung(11;0.080) DNAJC2 27000 broad.mit.edu 37 7 102968125 102968125 + Missense_Mutation SNP G G C TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr7:102968125G>C uc003vbo.2 - 4 659 c.408C>G c.(406-408)GAC>GAG p.D136E PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_5'UTR|DNAJC2_uc010lix.2_Missense_Mutation_p.D136E|DNAJC2_uc003vbp.2_5'UTR|DNAJC2_uc003vbq.1_RNA NM_014377 NP_055192 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 136 J. 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding kidney(1) 1 AAGTGAAGTAGTCATTATCTC 0.338000 BLK 640 broad.mit.edu 37 8 11400743 11400743 + Missense_Mutation SNP G G C rs151045602 TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr8:11400743G>C uc003wty.2 + 2 591 c.10G>C c.(10-12)GTA>CTA p.V4L BLK_uc003wtz.2_Intron NM_001715 NP_001706 P51451 BLK_HUMAN B lymphoid tyrosine kinase 4 intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity large_intestine(1)|stomach(1)|ovary(1) 3 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) GATGGGGCTGGTAAGTAGCAA 0.612000 FZD3 7976 broad.mit.edu 37 8 28385012 28385012 + Silent SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr8:28385012C>T uc003xgx.2 + 5 1213 c.735C>T c.(733-735)TAC>TAT p.Y245Y FZD3_uc010lvb.2_Silent_p.Y245Y NM_017412 NP_059108 Q9NPG1 FZD3_HUMAN frizzled 3 precursor 245 Helical; Name=2; (Potential). canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) CAGTCTGCTACATGATGGTAT 0.383000 RAB11FIP1 80223 broad.mit.edu 37 8 37730604 37730604 + Silent SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr8:37730604G>A uc003xkm.1 - 4 1760 c.1716C>T c.(1714-1716)GGC>GGT p.G572G RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 572 Ser-rich. protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CAGATGCCTGGCCAGAGCTAG 0.557000 C8orf86 389649 broad.mit.edu 37 8 38374012 38374012 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr8:38374012G>A uc003xlx.1 - 2 359 c.334C>T c.(334-336)CAC>TAC p.H112Y NM_207412 NP_997295 Q6ZUL3 CH086_HUMAN hypothetical protein LOC389649 112 0 CTCTCCCAGTGGCCTGTATTC 0.448000 CYP7B1 9420 broad.mit.edu 37 8 65509340 65509340 + Missense_Mutation SNP T T G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr8:65509340T>G uc003xvj.2 - 6 1584 c.1380A>C c.(1378-1380)AAA>AAC p.K460N NM_004820 NP_004811 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, 460 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(3) 3 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) CCAACAATTGTTTTATTTCCA 0.353000 NIPAL2 79815 broad.mit.edu 37 8 99224702 99224702 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr8:99224702G>A uc003yil.1 - 6 842 c.586C>T c.(586-588)CTC>TTC p.L196F NIPAL2_uc011lgw.1_5'UTR|NIPAL2_uc003yim.1_Missense_Mutation_p.L196F NM_024759 NP_079035 Q9H841 NPAL2_HUMAN NIPA-like domain containing 2 196 Helical; (Potential). integral to membrane 0 AAATACAGGAGAATGCAGAAA 0.299000 RECK 8434 broad.mit.edu 37 9 36087862 36087862 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr9:36087862C>T uc003zyv.2 + 9 895 c.809C>T c.(808-810)TCT>TTT p.S270F RECK_uc003zyw.2_Missense_Mutation_p.S142F|RECK_uc003zyx.2_RNA NM_021111 NP_066934 O95980 RECK_HUMAN RECK protein precursor 270 5 X Knot repeats. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) AGCTCACAATCTGTTCACCCT 0.458000 ASTN2 23245 broad.mit.edu 37 9 119976957 119976957 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr9:119976957C>T uc004bjs.1 - 3 796 c.695G>A c.(694-696)CGT>CAT p.R232H ASTN2_uc004bjr.1_Missense_Mutation_p.R232H|ASTN2_uc004bjt.1_Missense_Mutation_p.R232H NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 232 Cytoplasmic (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CTTCTGCCAACGTCGCTGGGC 0.632000 CDK9 1025 broad.mit.edu 37 9 130551812 130551812 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr9:130551812G>A uc004bse.2 + 7 1232 c.1109G>A c.(1108-1110)CGC>CAC p.R370H NM_001261 NP_001252 P50750 CDK9_HUMAN cyclin-dependent kinase 9 370 cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription elongation factor complex ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(1) 1 GAGTTTGAGCGCGTCTTCTGA 0.562000 EHMT1 79813 broad.mit.edu 37 9 140646788 140646788 + Silent SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr9:140646788C>T uc011mfc.1 + 7 1213 c.1176C>T c.(1174-1176)GAC>GAT p.D392D EHMT1_uc004coa.2_Silent_p.D392D|EHMT1_uc004cob.1_Silent_p.D361D NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 392 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) ATCAGATGGACGGGGAGTCCG 0.572000 RBBP7 5931 broad.mit.edu 37 X 16870931 16870931 + Missense_Mutation SNP T T G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chrX:16870931T>G uc004cxt.2 - 7 1184 c.826A>C c.(826-828)AAC>CAC p.N276H RBBP7_uc004cxs.1_Missense_Mutation_p.N320H|RBBP7_uc004cxu.2_Missense_Mutation_p.N267H|RBBP7_uc010nez.2_3'UTR NM_002893 NP_002884 Q16576 RBBP7_HUMAN retinoblastoma binding protein 7 276 WD 5. cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex|NuRD complex protein binding p.N276S(1) upper_aerodigestive_tract(1)|ovary(1) 2 Hepatocellular(33;0.0997) GAGAGGCAGTTGACTTCGGCA 0.483000 ITIH5L 347365 broad.mit.edu 37 X 54785304 54785304 + Silent SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chrX:54785304C>T uc004dtj.2 - 8 1233 c.1203G>A c.(1201-1203)ACG>ACA p.T401T NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 401 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 TCACGCCGGCCGTGGGCTCCC 0.607000 DCAF12L1 139170 broad.mit.edu 37 X 125685736 125685736 + Missense_Mutation SNP A A C TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chrX:125685736A>C uc004eul.2 - 1 1107 c.856T>G c.(856-858)TTC>GTC p.F286V NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 286 WD 3. skin(3)|ovary(1) 4 CACAGGTGGAAGTAGCCGTCC 0.607000 CDR1 1038 broad.mit.edu 37 X 139865818 139865818 + Missense_Mutation SNP A A C TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chrX:139865818A>C uc004fbg.1 - 1 906 c.714T>G c.(712-714)ATT>ATG p.I238M uc004fbf.1_RNA NM_004065 NP_004056 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 238 0 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) TCCAGAAAGAAATCCAGGTCT 0.423000 IRAK1 3654 broad.mit.edu 37 X 153284492 153284492 + Silent SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chrX:153284492G>A uc004fjs.1 - 4 553 c.474C>T c.(472-474)CTC>CTT p.L158L IRAK1_uc004fjr.1_Silent_p.L158L|IRAK1_uc004fjt.1_Silent_p.L158L|IRAK1_uc010nur.2_Silent_p.L158L|IRAK1_uc004fju.2_Silent_p.L184L NM_001569 NP_001560 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 158 ProST region. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity lung(5)|ovary(2)|breast(1)|central_nervous_system(1) 9 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGACCAGGCCGAGCTCAGGCC 0.622000 NFE2L3 9603 broad.mit.edu 37 7 26225016 26225022 + Frame_Shift_Del DEL AAGTAGA AAGTAGA - TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr7:26225015_26225021TAAGTAGA>T uc003sxq.3 + 3 1969_1975 c.1697_1703TAAGTAGA>T c.(1696-1704)ttaagtagafs p.L566fs NM_004289 NP_004280 Q9Y4A8 NF2L3_HUMAN Homo sapiens nuclear factor (erythroid-derived 2)-like 3 (NFE2L3), mRNA. 566 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 AATAGCATGTTAAGTAGATATTATCTG 0.411 CXCR5 643 broad.mit.edu 37 11 118765330 118765333 + Frame_Shift_Del DEL TCTC TCTC - TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr11:118765329_118765332GTCTC>G uc001pue.4 + 1 1252_1255 c.1076_1079GTCTC>G c.(1075-1080)agtctcfs p.S359fs CXCR5_uc001puf.3_Frame_Shift_Del_p.S314fs NM_001716 NP_116743 P32302 CXCR5_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 5 (CXCR5), transcript variant 1, mRNA. 359 B cell activation|cellular component movement integral to plasma membrane C-X-C chemokine receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) CGCAGGAGCAGTCTCTCTGAGTCA 0.603 NPEPPS 9520 broad.mit.edu 37 17 45681404 45681408 + Frame_Shift_Del DEL CTCTT CTCTT - TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr17:45681403_45681407CCTCTT>C uc002ilr.4 + 15 2086_2090 c.1863_1867CCTCTT>C c.(1861-1869)gacctcttcfs p.D621fs NPEPPS_uc010wkt.2_Frame_Shift_Del_p.D617fs|NPEPPS_uc010wku.2_Frame_Shift_Del_p.D585fs|NPEPPS_uc010wkv.2_Frame_Shift_Del_p.D175fs|NPEPPS_uc002ils.1_Frame_Shift_Del_p.D54fs NM_006310 NP_006301 P55786 PSA_HUMAN Homo sapiens aminopeptidase puromycin sensitive (NPEPPS), mRNA. 621 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 TACAGAATGACCTCTTCTCCTTGGT 0.410 MEF2B 100271849 broad.mit.edu 37 19 19260200 19260202 + In_Frame_Del DEL CTT CTT - TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chr19:19260199_19260201CCTT>C uc002nlp.2 - 4 819_821 c.92_94AAGG>G c.(91-96)aaggcc>aGcc p.31_32KA>S MEF2B_uc002nll.2_In_Frame_Del_p.31_32KA>S|MEF2B_uc010xqo.1_In_Frame_Del_p.31_32KA>S|MEF2B_uc010xqp.1_In_Frame_Del_p.31_32KA>S|MEF2B_uc002nlo.2_In_Frame_Del_p.31_32KA>S|MEF2B_uc002nlk.2_In_Frame_Del_p.31_32KA>S NM_005919 NP_005910 Homo sapiens MEF2BNB-MEF2B readthrough (MEF2BNB-MEF2B), transcript variant 1, mRNA. breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412) AGCTCATAGGCCTTCTTCATCAG 0.567 ERCC6L 54821 broad.mit.edu 37 X 71426048 71426049 + Frame_Shift_Del DEL GT GT - TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 g.chrX:71426047_71426048AGT>A uc004eaq.1 - 1 2666_2667 c.2569_2570ACT>T c.(2569-2571)ctgfs p.L857fs PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Frame_Shift_Del_p.L734fs NM_017669 NP_060139 Q2NKX8 ERC6L_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA. 857 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) ATCCTCTTGCAGTGCCTCTTGC 0.361