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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut PLOD1 5351 broad.mit.edu 37 1 12012751 12012751 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:12012751C>G uc001atm.2 + 5 629 c.538C>G c.(538-540)CAG>GAG p.Q180E PLOD1_uc010obb.1_Missense_Mutation_p.Q227E NM_000302 NP_000293 Q02809 PLOD1_HUMAN lysyl hydroxylase 1 precursor 180 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity ovary(2)|breast(1) 3 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) CGACAGCGATCAGCTGTTTTA 0.617 NA 9 69 0 0 0 0 GRIK3 2899 broad.mit.edu 37 1 37324810 37324810 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:37324810C>T uc001caz.2 - 7 1138 c.1003G>A c.(1003-1005)GTG>ATG p.V335M GRIK3_uc001cba.1_Missense_Mutation_p.V335M NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 335 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) TGGTAGCACACGGACACGATA 0.622 NA 11 112 0 0 0 0 LEPR 3953 broad.mit.edu 37 1 66102651 66102651 + Nonsense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:66102651C>T uc001dci.2 + 20 3653 c.3451C>T c.(3451-3453)CAG>TAG p.Q1151* LEPR_uc009waq.2_3'UTR NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 1151 Cytoplasmic (Potential). energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TTGTTCTACTCAGACTCATAA 0.338 NA 5 91 0 0 0 0 CHI3L2 1117 broad.mit.edu 37 1 111778658 111778658 + Silent SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:111778658C>T uc001eam.2 + 7 689 c.618C>T c.(616-618)TTC>TTT p.F206F CHI3L2_uc001ean.2_Silent_p.F196F|CHI3L2_uc001eao.2_Silent_p.F127F|CHI3L2_uc009wga.2_Silent_p.F127F NM_004000 NP_003991 Q15782 CH3L2_HUMAN chitinase 3-like 2 isoform a 206 chitin catabolic process extracellular space cation binding|chitinase activity central_nervous_system(1) 1 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) ATCTGGATTTCATCAACCTCC 0.473 NA 49 269 0 0 0 0 ZNF697 90874 broad.mit.edu 37 1 120168657 120168657 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:120168657C>G uc001ehy.1 - 2 181 c.67G>C c.(67-69)GAT>CAT p.D23H NM_001080470 NP_001073939 Q5TEC3 ZN697_HUMAN zinc finger protein 697 23 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577) TCCTCAAAATCAGAACCCATC 0.498 NA 23 209 0 0 0 0 S100A8 6279 broad.mit.edu 37 1 153362715 153362715 + Missense_Mutation SNP T T C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:153362715T>C uc001fbs.2 - 3 201 c.146A>G c.(145-147)AAG>AGG p.K49R NM_002964 NP_002955 P05109 S10A8_HUMAN S100 calcium-binding protein A8 49 EF-hand 2. chemotaxis cytoplasm|cytoskeleton|plasma membrane calcium ion binding|protein binding 0 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) GTCTGCACCCTTTTTCTGTCA 0.507 NA 3 151 0 0 0 0 MTX1 4580 broad.mit.edu 37 1 155178627 155178627 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:155178627G>A uc001fjb.2 + 1 138 c.32G>A c.(31-33)CGC>CAC p.R11H RAG1AP1_uc010pey.1_Intron|THBS3_uc001fix.2_5'Flank|THBS3_uc009wqi.2_5'Flank|THBS3_uc001fiz.2_5'Flank|THBS3_uc001fiy.2_5'Flank|THBS3_uc010pfu.1_5'Flank|THBS3_uc010pfv.1_5'Flank|THBS3_uc001fja.2_Intron|THBS3_uc009wqj.1_Intron|MTX1_uc001fjc.2_Missense_Mutation_p.R11H NM_002455 NP_002446 Q13505 MTX1_HUMAN metaxin 1 isoform 1 11 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane protein binding skin(1) 1 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CGCAGTCCCCGCTCGGGGACG 0.647 NA 3 20 0 0 0 0 PCP4L1 654790 broad.mit.edu 37 1 161254169 161254169 + Silent SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:161254169G>A uc001gad.2 + 3 353 c.105G>A c.(103-105)GAG>GAA p.E35E NM_001102566 NP_001096036 A6NKN8 PC4L1_HUMAN Purkinje cell protein 4 like 1 35 0 all_cancers(52;4.16e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) AGGAGGAGGAGATTGACATTG 0.488 NA 9 93 0 0 0 0 CACNA1S 779 broad.mit.edu 37 1 201047194 201047194 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:201047194C>T uc001gvv.2 - 11 1659 c.1432G>A c.(1432-1434)GAG>AAG p.E478K NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 478 Helical; Name=S2 of repeat II; (Potential).|II. axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) ATCAGCATCTCAGTGGTGAAG 0.567 NA 22 100 0 0 0 0 C1orf107 27042 broad.mit.edu 37 1 210012455 210012455 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:210012455G>A uc001hhr.1 + 7 1340 c.1264G>A c.(1264-1266)GAT>AAT p.D422N C1orf107_uc009xcu.1_Missense_Mutation_p.D137N NM_014388 NP_055203 Q68CQ4 DIEXF_HUMAN digestive-organ expansion factor homolog 422 multicellular organismal development nucleus 0 OV - Ovarian serous cystadenocarcinoma(81;0.0367) GGGCAATATTGATGACCACTT 0.428 NA 11 87 0 0 0 0 CAPN2 824 broad.mit.edu 37 1 223957578 223957578 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:223957578C>G uc001hob.3 + 17 2015 c.1791C>G c.(1789-1791)TTC>TTG p.F597L CAPN2_uc010puy.1_Missense_Mutation_p.F519L|CAPN2_uc001hoc.2_Missense_Mutation_p.F178L NM_001748 NP_001739 P17655 CAN2_HUMAN calpain 2 isoform 1 597 Domain IV.|EF-hand 1. proteolysis cytoplasm|plasma membrane lung(3)|breast(1)|skin(1) 5 GBM - Glioblastoma multiforme(131;0.109) TGAAGGAGTTCTACATTCTCT 0.478 NA 2 5 0 0 0 0 OBSCN 84033 broad.mit.edu 37 1 228433261 228433261 + Nonsense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:228433261C>G uc009xez.1 + 12 3673 c.3629C>G c.(3628-3630)TCA>TGA p.S1210* OBSCN_uc001hsn.2_Nonsense_Mutation_p.S1210* NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1210 Poly-Ser.|Ig-like 12. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) AGCTCCAGCTCAAAAGTACGC 0.627 NA 16 102 0 0 0 0 TARBP1 6894 broad.mit.edu 37 1 234529206 234529206 + Missense_Mutation SNP C C A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:234529206C>A uc001hwd.2 - 28 4462 c.4462G>T c.(4462-4464)GGG>TGG p.G1488W NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 1488 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) ACTGAAGCCCCAAATACCTCA 0.498 NA 14 74 4.37e-10 4.89e-10 1 0 RGS7 6000 broad.mit.edu 37 1 241261998 241261998 + Missense_Mutation SNP C C A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:241261998C>A uc001hyv.2 - 3 473 c.143G>T c.(142-144)AGC>ATC p.S48I RGS7_uc010pyh.1_Missense_Mutation_p.S22I|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.S48I|RGS7_uc009xgn.1_Missense_Mutation_p.S48I|RGS7_uc001hyw.2_Missense_Mutation_p.S48I NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 48 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GGAAAGAAAGCTTTTGACCGT 0.363 NA 10 51 1.09e-07 1.19e-07 1 0 KLF6 1316 broad.mit.edu 37 10 3823969 3823969 + Silent SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr10:3823969C>G uc001iha.2 - 2 807 c.540G>C c.(538-540)TCG>TCC p.S180S KLF6_uc010qaj.1_Silent_p.S180S|KLF6_uc010qak.1_Intron|KLF6_uc010qal.1_Silent_p.S180S|KLF6_uc001ihb.2_Silent_p.S180S NM_001300 NP_001291 Q99612 KLF6_HUMAN Kruppel-like factor 6 isoform A 180 S -> L (found in gastric cancer samples; somatic mutation). B cell differentiation nucleus zinc ion binding central_nervous_system(3)|lung(1) 4 Colorectal(1;0.238) CTGGCTTCCCCGAAGTCCCGC 0.627 NA OREG0019980 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 79 0 0 0 0 SUPV3L1 6832 broad.mit.edu 37 10 70940261 70940261 + Nonsense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr10:70940261C>T uc001jpe.1 + 1 269 c.214C>T c.(214-216)CAG>TAG p.Q72* SUPV3L1_uc010qjd.1_5'UTR NM_003171 NP_003162 Q8IYB8 SUV3_HUMAN suppressor of var1, 3-like 1 precursor 72 DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding urinary_tract(1)|ovary(1) 2 TGTGAAACCTCAGGGCCCCAG 0.637 NA 24 108 0 0 0 0 MYST4 23522 broad.mit.edu 37 10 76788729 76788729 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr10:76788729G>C uc001jwn.1 + 18 4640 c.4147G>C c.(4147-4149)GAT>CAT p.D1383H MYST4_uc001jwo.1_Missense_Mutation_p.D1091H|MYST4_uc001jwp.1_Missense_Mutation_p.D1200H NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 1383 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) aaaagaTCCAGATGGTGCTAA 0.249 NA T CREBBP AML 7 46 0 0 0 0 WDR11 55717 broad.mit.edu 37 10 122619653 122619653 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr10:122619653C>T uc010qtf.1 + 4 623 c.385C>T c.(385-387)CGC>TGC p.R129C WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN bromodomain and WD repeat domain containing 2 129 WD 2. integral to membrane 0 AGATGCTTCCCGCGATTTACT 0.448 NA 26 89 0 0 0 0 DPYSL4 10570 broad.mit.edu 37 10 134008424 134008424 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr10:134008424C>T uc009ybb.2 + 4 543 c.389C>T c.(388-390)GCG>GTG p.A130V NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 130 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) GCGGACAGCGCGGCCTGCTGC 0.662 NA 13 81 0 0 0 0 MRGPRE 116534 broad.mit.edu 37 11 3249416 3249416 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr11:3249416C>T uc001lxq.3 - 2 921 c.611G>A c.(610-612)CGA>CAA p.R204Q NM_001039165 NP_001034254 Q86SM8 MRGRE_HUMAN MAS-related GPR, member E 204 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(1)|ovary(1) 2 Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGGGGGCCTCGCTCCACCCG 0.682 NA 3 8 0 0 0 0 IPO7 10527 broad.mit.edu 37 11 9456494 9456494 + Silent SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr11:9456494C>T uc001mho.2 + 19 2230 c.2088C>T c.(2086-2088)CTC>CTT p.L696L NM_006391 NP_006382 O95373 IPO7_HUMAN importin 7 696 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity lung(1)|breast(1) 2 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) TGATGCCCCTCCTTCATAATT 0.313 NA 9 81 0 0 0 0 TP53I11 9537 broad.mit.edu 37 11 44956498 44956498 + Silent SNP G G T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr11:44956498G>T uc001myi.2 - 10 1112 c.507C>A c.(505-507)CTC>CTA p.L169L TP53I11_uc001myf.1_Intron|TP53I11_uc001myj.2_Silent_p.L169L|TP53I11_uc001myk.2_Silent_p.L169L|TP53I11_uc001myl.2_Silent_p.L169L|TP53I11_uc001mym.2_Silent_p.L116L NM_006034 NP_006025 O14683 P5I11_HUMAN p53-induced protein 169 Helical; (Potential). negative regulation of cell proliferation|response to stress integral to membrane ovary(1) 1 CGACAAAAAGGAGGCGGCTGA 0.617 NA 19 137 7.93e-12 8.94e-12 1 0 ZBTB3 79842 broad.mit.edu 37 11 62520951 62520951 + Missense_Mutation SNP A A T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr11:62520951A>T uc001nuz.2 - 2 458 c.336T>A c.(334-336)GAT>GAA p.D112E NM_024784 NP_079060 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 112 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 TACACACCAGATCCCTCTTGT 0.547 NA 16 71 0 0 0 0 CDCA5 113130 broad.mit.edu 37 11 64846603 64846603 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr11:64846603C>G uc001ocp.2 - 6 900 c.735G>C c.(733-735)GAG>GAC p.E245D NM_080668 NP_542399 Q96FF9 CDCA5_HUMAN cell division cycle associated 5 245 cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin cytoplasm|nuclear chromatin|plasma membrane chromatin binding|identical protein binding 0 GATCAAACTGCTCAGCAGCTT 0.552 NA 4 34 0 0 0 0 RSF1 51773 broad.mit.edu 37 11 77412091 77412091 + Missense_Mutation SNP C C A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr11:77412091C>A uc001oyn.2 - 6 2303 c.2183G>T c.(2182-2184)AGG>ATG p.R728M RSF1_uc001oym.2_Missense_Mutation_p.R476M NM_016578 NP_057662 Q96T23 RSF1_HUMAN remodeling and spacing factor 1 728 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) CTCTTTCTGCCTTTCAGAGGT 0.398 NA 27 157 7.08e-08 7.78e-08 1 0 USP28 57646 broad.mit.edu 37 11 113670017 113670017 + Missense_Mutation SNP C C A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr11:113670017C>A uc001poh.2 - 25 3212 c.3179G>T c.(3178-3180)CGA>CTA p.R1060L USP28_uc001pog.2_Missense_Mutation_p.R736L|USP28_uc010rwy.1_Missense_Mutation_p.R903L|USP28_uc001poi.2_Missense_Mutation_p.R383L NM_020886 NP_065937 Q96RU2 UBP28_HUMAN ubiquitin specific protease 28 1060 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1) 7 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) AGCTGCAAATCGGCTACATAG 0.483 NA 27 137 7.38e-10 8.24e-10 1 0 RIMKLB 57494 broad.mit.edu 37 12 8926332 8926332 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr12:8926332C>G uc001quu.2 + 6 1364 c.1113C>G c.(1111-1113)TTC>TTG p.F371L RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_Missense_Mutation_p.F371L|RIMKLB_uc010sgl.1_Missense_Mutation_p.F371L|RIMKLB_uc001quw.2_Intron NM_020734 NP_065785 Q9ULI2 RIMKB_HUMAN ribosomal modification protein rimK-like family 371 protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding 0 GGGGCCTGTTCAACATGAACC 0.483 NA 18 128 0 0 0 0 EPS8 2059 broad.mit.edu 37 12 15784565 15784565 + Missense_Mutation SNP C C T rs145919374 TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr12:15784565C>T uc009zif.2 - 18 1949 c.1855G>A c.(1855-1857)GAT>AAT p.D619N EPS8_uc001rdb.2_Missense_Mutation_p.D619N|EPS8_uc009zig.2_Missense_Mutation_p.D359N|EPS8_uc010shv.1_Missense_Mutation_p.D359N NM_004447 NP_004438 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway 619 Pro-rich. 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) GGGGGAGTATCAGCTGGTCTT 0.433 NA 7 67 0 0 0 0 STK38L 23012 broad.mit.edu 37 12 27461352 27461352 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr12:27461352C>G uc001rhr.2 + 4 466 c.267C>G c.(265-267)GAC>GAG p.D89E STK38L_uc001rhs.2_RNA|STK38L_uc010sjm.1_Intron NM_015000 NP_055815 Q9Y2H1 ST38L_HUMAN serine/threonine kinase 38 like 89 intracellular protein kinase cascade|regulation of cellular component organization actin cytoskeleton|cytoplasm actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|kidney(1) 5 Colorectal(261;0.0847) GCTTGGATGACTTTGAGTCTC 0.353 NA 33 133 0 0 0 0 BICD1 636 broad.mit.edu 37 12 32369283 32369283 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr12:32369283C>G uc001rku.2 + 2 397 c.316C>G c.(316-318)CTG>GTG p.L106V BICD1_uc001rkv.2_Missense_Mutation_p.L106V|BICD1_uc010skd.1_RNA NM_001714 NP_001705 Q96G01 BICD1_HUMAN bicaudal D homolog 1 isoform 1 106 Potential. anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton large_intestine(1)|central_nervous_system(1) 2 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) GGCTTACTATCTGGGGAAGAT 0.542 NA 14 69 0 0 0 0 ASB8 140461 broad.mit.edu 37 12 48545077 48545077 + Silent SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr12:48545077C>G uc001rrh.2 - 3 310 c.141G>C c.(139-141)GTG>GTC p.V47V ASB8_uc010slr.1_Silent_p.V43V NM_024095 NP_077000 Q9H765 ASB8_HUMAN ankyrin repeat and SOCS box-containing 8 47 intracellular signal transduction cytoplasm|nucleus kidney(1) 1 GAGTGCAGTTCACATCTGCTC 0.522 NA 12 46 0 0 0 0 KRT74 121391 broad.mit.edu 37 12 52962128 52962128 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr12:52962128C>G uc001sap.1 - 7 1228 c.1180G>C c.(1180-1182)GAC>CAC p.D394H NM_175053 NP_778223 Q7RTS7 K2C74_HUMAN keratin 6 irs4 394 Rod.|Coil 2. keratin filament structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.191) AGGGCATTGTCTCCCCGCTGC 0.597 NA 10 62 0 0 0 0 R3HDM2 22864 broad.mit.edu 37 12 57660580 57660580 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr12:57660580C>G uc009zpm.1 - 17 2058 c.2023G>C c.(2023-2025)GAG>CAG p.E675Q R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_Missense_Mutation_p.E370Q|R3HDM2_uc001snr.2_Missense_Mutation_p.E402Q|R3HDM2_uc001sns.2_Missense_Mutation_p.E675Q|R3HDM2_uc001snt.2_Missense_Mutation_p.E689Q|R3HDM2_uc009zpn.1_Intron NM_014925 NP_055740 Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 675 Gln-rich. nucleus nucleic acid binding ovary(2) 2 TGGTACTGCTCAGAGCCAGGG 0.552 NA 8 42 0 0 0 0 GNPTAB 79158 broad.mit.edu 37 12 102153834 102153834 + Nonsense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr12:102153834G>A uc001tit.2 - 16 3402 c.3223C>T c.(3223-3225)CAG>TAG p.Q1075* NM_024312 NP_077288 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase 1075 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity p.Q1075*(1) ovary(1)|skin(1) 2 TAGGATTCCTGAGTTGGTGGA 0.368 NA 13 89 0 0 0 0 PDS5B 23047 broad.mit.edu 37 13 33344579 33344579 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr13:33344579C>G uc010abf.2 + 32 4103 c.3945C>G c.(3943-3945)AGC>AGG p.S1315R PDS5B_uc010abg.2_RNA NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog 1315 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding ovary(2)|lung(1)|pancreas(1) 4 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) AAAAAGGAAGCAAAAAAAAAT 0.438 NA 4 34 0 0 0 0 FAM124A 220108 broad.mit.edu 37 13 51854623 51854623 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr13:51854623G>C uc001vfg.1 + 4 1003 c.872G>C c.(871-873)AGA>ACA p.R291T FAM124A_uc001vff.1_Missense_Mutation_p.R327T NM_145019 NP_659456 Q86V42 F124A_HUMAN hypothetical protein LOC220108 291 central_nervous_system(1) 1 Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;4.25e-07) AAACCTGGCAGAGTACATCAT 0.517 NA 8 46 0 0 0 0 C13orf34 79866 broad.mit.edu 37 13 73327930 73327930 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr13:73327930G>A uc001viv.1 + 11 1704 c.1585G>A c.(1585-1587)GAG>AAG p.E529K C13orf34_uc010aen.1_Missense_Mutation_p.E604K|C13orf34_uc010thr.1_Missense_Mutation_p.E459K|C13orf34_uc001viw.1_Missense_Mutation_p.E478K NM_024808 NP_079084 Q6PGQ7 BORA_HUMAN aurora borealis 529 cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding 0 Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.000227) ATGTGAAGTTGAGAGTAAATC 0.313 NA 6 70 0 0 0 0 ING1 3621 broad.mit.edu 37 13 111372242 111372242 + Missense_Mutation SNP T T G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr13:111372242T>G uc001vri.2 + 2 1664 c.1232T>G c.(1231-1233)CTG>CGG p.L411R ING1_uc001vrf.2_Missense_Mutation_p.L224R|ING1_uc001vrg.2_Missense_Mutation_p.L199R|ING1_uc001vrh.2_Missense_Mutation_p.L268R NM_005537 NP_005528 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 isoform D 411 cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding ovary(1) 1 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) GACAAAGCCCTGGAGAAATCC 0.507 NA 8 26 0 0 0 0 ATP11A 23250 broad.mit.edu 37 13 113478732 113478732 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr13:113478732G>A uc001vsi.3 + 10 953 c.865G>A c.(865-867)GTG>ATG p.V289M ATP11A_uc001vsj.3_Missense_Mutation_p.V289M|ATP11A_uc001vsm.1_Missense_Mutation_p.V165M NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 289 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) GCGATCTGCCGTGGAAAAGTA 0.443 NA 13 85 0 0 0 0 MMP14 4323 broad.mit.edu 37 14 23313957 23313957 + Silent SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr14:23313957C>T uc001whc.2 + 8 1503 c.1269C>T c.(1267-1269)CCC>CCT p.P423P NM_004995 NP_004986 P50281 MMP14_HUMAN matrix metalloproteinase 14 preproprotein 423 Hemopexin-like 3.|Extracellular (Potential). extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) TCTGGATGCCCAATGGAAAGA 0.547 NA 18 137 0 0 0 0 DAAM1 23002 broad.mit.edu 37 14 59820601 59820601 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr14:59820601C>T uc001xdz.1 + 20 2430 c.2305C>T c.(2305-2307)CAC>TAC p.H769Y DAAM1_uc001xea.1_Missense_Mutation_p.H759Y|DAAM1_uc001xec.1_5'Flank NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN dishevelled-associated activator of 769 FH2. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.165) CAGAATTAATCACTATCAGCA 0.378 NA 3 25 0 0 0 0 RPS6KL1 83694 broad.mit.edu 37 14 75376489 75376489 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr14:75376489G>A uc010tux.1 - 7 1555 c.1027C>T c.(1027-1029)CGG>TGG p.R343W RPS6KL1_uc001xqx.1_Missense_Mutation_p.R95W|RPS6KL1_uc001xqw.2_Missense_Mutation_p.R312W|RPS6KL1_uc010asd.1_RNA NM_031464 NP_113652 Q9Y6S9 RPKL1_HUMAN ribosomal protein S6 kinase-like 1 343 Protein kinase. ribosome ATP binding|protein serine/threonine kinase activity ovary(1)|stomach(1)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00658) GTGAGCCCCCGAGGGGGCCCA 0.697 NA 7 36 0 0 0 0 RPS6KA5 9252 broad.mit.edu 37 14 91389537 91389537 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr14:91389537C>G uc001xys.2 - 6 837 c.622G>C c.(622-624)GAA>CAA p.E208Q RPS6KA5_uc010twi.1_Missense_Mutation_p.E129Q|RPS6KA5_uc001xyt.2_Missense_Mutation_p.E208Q|RPS6KA5_uc010att.1_RNA NM_004755 NP_004746 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, polypeptide 5 208 Protein kinase 1. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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 cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) TATGCTCTTTCAGTCTTGAAC 0.353 NA 6 37 0 0 0 0 BEGAIN 57596 broad.mit.edu 37 14 101012923 101012923 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr14:101012923C>T uc010txa.1 - 2 237 c.91G>A c.(91-93)GAG>AAG p.E31K BEGAIN_uc001yhp.2_5'UTR|BEGAIN_uc001yhq.2_Missense_Mutation_p.E31K NM_001159531 NP_001153003 Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 31 cytoplasm|membrane protein binding 0 Melanoma(154;0.212) GAGTCGAACTCGGTCTCGAGC 0.562 NA 9 51 0 0 0 0 DISP2 85455 broad.mit.edu 37 15 40661167 40661167 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr15:40661167G>A uc001zlk.1 + 8 2943 c.2854G>A c.(2854-2856)GAG>AAG p.E952K NM_033510 NP_277045 A7MBM2 DISP2_HUMAN dispatched B 952 smoothened signaling pathway integral to membrane ovary(2) 2 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) TAGCCGTCTAGAGCTGTATAG 0.632 NA 19 103 0 0 0 0 SPINT1 6692 broad.mit.edu 37 15 41145359 41145359 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr15:41145359G>C uc001zna.2 + 3 717 c.513G>C c.(511-513)TTG>TTC p.L171F SPINT1_uc001znb.2_Missense_Mutation_p.L171F|SPINT1_uc001znc.2_Missense_Mutation_p.L171F|SPINT1_uc010ucs.1_Missense_Mutation_p.L171F NM_181642 NP_857593 O43278 SPIT1_HUMAN serine peptidase inhibitor, Kunitz type 1 171 extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity ovary(1) 1 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) GCATAGACTTGAAGGTACAAC 0.557 NA 25 150 0 0 0 0 UBR1 197131 broad.mit.edu 37 15 43351984 43351984 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr15:43351984C>G uc001zqq.2 - 8 967 c.901G>C c.(901-903)GAA>CAA p.E301Q UBR1_uc010udk.1_Missense_Mutation_p.E301Q NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 301 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding lung(1) 1 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) TGTAATACTTCTACATGAAGT 0.353 NA 8 49 0 0 0 0 LCMT2 9836 broad.mit.edu 37 15 43622444 43622444 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr15:43622444G>A uc001zrg.2 - 1 448 c.244C>T c.(244-246)CGC>TGC p.R82C LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank NM_014793 NP_055608 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 82 tRNA processing methyltransferase activity|protein binding 0 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) ATCTGCGCGCGAAGCGCGGCC 0.652 NA 5 48 0 0 0 0 MAP1A 4130 broad.mit.edu 37 15 43814803 43814803 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr15:43814803G>A uc001zrt.2 + 4 1599 c.1132G>A c.(1132-1134)GAG>AAG p.E378K NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 378 Lys-rich (basic). cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) TGCCAAGCCTGAGAGGGTGAA 0.493 NA 4 29 0 0 0 0 SLC12A1 6557 broad.mit.edu 37 15 48500096 48500096 + Silent SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr15:48500096C>T uc001zwn.3 + 2 396 c.180C>T c.(178-180)ATC>ATT p.I60I SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.2_Silent_p.I60I|SLC12A1_uc010uex.1_Silent_p.I60I NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 60 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) GACTCAGAATCAGCTTTAGGC 0.438 NA 9 62 0 0 0 0 SLC27A2 11001 broad.mit.edu 37 15 50519205 50519205 + Silent SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr15:50519205C>T uc001zxw.2 + 7 1519 c.1287C>T c.(1285-1287)ATC>ATT p.I429I SLC27A2_uc010bes.2_Silent_p.I376I|SLC27A2_uc001zxx.2_Silent_p.I194I NM_003645 NP_003636 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid 429 Cytoplasmic (Potential). bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity ovary(1)|skin(1) 2 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) TTTGCAAAATCACACAACTTA 0.358 NA 5 43 0 0 0 0 CPEB1 64506 broad.mit.edu 37 15 83215266 83215266 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr15:83215266C>G uc002bit.2 - 11 1832 c.1695G>C c.(1693-1695)CAG>CAC p.Q565H CPEB1_uc002biq.2_Missense_Mutation_p.Q425H|CPEB1_uc002bir.2_Missense_Mutation_p.Q430H|CPEB1_uc002bis.2_Missense_Mutation_p.Q425H|CPEB1_uc010uod.1_Missense_Mutation_p.Q274H|CPEB1_uc010uoe.1_Missense_Mutation_p.Q503H|CPEB1_uc002biu.2_Missense_Mutation_p.Q527H|CPEB1_uc010uof.1_Missense_Mutation_p.Q425H|CPEB1_uc002biv.2_Missense_Mutation_p.Q500H|CPEB1_uc002bip.2_Missense_Mutation_p.Q274H NM_001079533 NP_001073001 Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding 505 RRM 2.|Necessary for stress granule assembly and correct localization in dcp1 bodies. mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(143;0.229) AGGGGTCAATCTGAACCTGCA 0.483 NA 8 74 0 0 0 0 IQGAP1 8826 broad.mit.edu 37 15 90934036 90934036 + Missense_Mutation SNP A A T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr15:90934036A>T uc002bpl.1 + 2 187 c.86A>T c.(85-87)GAG>GTG p.E29V NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 29 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) CTTACTGCAGAGGAGATGGAT 0.423 NA 10 103 0 0 0 0 STUB1 10273 broad.mit.edu 37 16 731286 731286 + Silent SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr16:731286C>T uc002cit.2 + 2 705 c.294C>T c.(292-294)TTC>TTT p.F98F STUB1_uc002ciu.2_Silent_p.F26F|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA NM_005861 NP_005852 Q9UNE7 CHIP_HUMAN STIP1 homology and U-box containing protein 1 98 TPR 3. cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity 0 Hepatocellular(780;0.00335) AGGCGCACTTCTTCCTGGGGC 0.652 NA 3 27 0 0 0 0 ZC3H7A 29066 broad.mit.edu 37 16 11862205 11862205 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr16:11862205C>G uc002dbk.2 - 11 1524 c.1326G>C c.(1324-1326)TTG>TTC p.L442F ZC3H7A_uc002dbj.2_5'Flank|ZC3H7A_uc002dbl.2_Missense_Mutation_p.L442F|ZC3H7A_uc002dbm.1_Missense_Mutation_p.L352F NM_014153 NP_054872 Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 442 nucleus nucleic acid binding|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 AAGCTTGTCTCAATTCATGGG 0.413 NA 38 181 0 0 0 0 DCUN1D3 123879 broad.mit.edu 37 16 20871316 20871316 + Silent SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr16:20871316G>C uc002dhz.2 - 3 948 c.807C>G c.(805-807)CTC>CTG p.L269L ERI2_uc002dht.3_Intron NM_173475 NP_775746 Q8IWE4 DCNL3_HUMAN DCN1, defective in cullin neddylation 1, domain 269 DCUN1. negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C perinuclear region of cytoplasm ovary(2) 2 GBM - Glioblastoma multiforme(48;0.249) AGGTGTCAAAGAGACTTGGCC 0.552 NA 7 39 0 0 0 0 USP31 57478 broad.mit.edu 37 16 23116891 23116891 + Silent SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr16:23116891G>A uc002dll.2 - 5 960 c.960C>T c.(958-960)CTC>CTT p.L320L NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 320 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1) 10 GBM - Glioblastoma multiforme(48;0.0187) CAGTGACATAGAGAGGCCTGT 0.418 NA 11 52 0 0 0 0 TNRC6A 27327 broad.mit.edu 37 16 24800705 24800705 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr16:24800705G>C uc002dmm.2 + 6 856 c.742G>C c.(742-744)GAG>CAG p.E248Q TNRC6A_uc010bxs.2_5'UTR|TNRC6A_uc010vcc.1_5'UTR|TNRC6A_uc002dmn.2_5'UTR|TNRC6A_uc002dmo.2_5'UTR NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 248 Ser-rich. 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) CAGTGATCCGGAGTTGGCTTC 0.458 NA 10 122 0 0 0 0 CCDC135 84229 broad.mit.edu 37 16 57741450 57741450 + Missense_Mutation SNP G G A rs116219187 by1000genomes TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr16:57741450G>A uc002emi.2 + 7 1026 c.937G>A c.(937-939)GAG>AAG p.E313K CCDC135_uc002emj.2_Missense_Mutation_p.E313K|CCDC135_uc002emk.2_Missense_Mutation_p.E248K NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 313 cytoplasm central_nervous_system(1) 1 GGGGAAGCGCGAGGTGCCTGA 0.587 NA 10 52 0 0 0 0 TMED6 146456 broad.mit.edu 37 16 69385485 69385485 + Missense_Mutation SNP G G T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr16:69385485G>T uc002exc.1 - 1 205 c.172C>A c.(172-174)CAA>AAA p.Q58K NM_144676 NP_653277 Q8WW62 TMED6_HUMAN transmembrane emp24 protein transport domain 58 Lumenal (Potential).|GOLD. transport endoplasmic reticulum membrane|integral to membrane ovary(1) 1 TGGGCAAATTGCCAAAAGCAT 0.483 NA 17 131 5.35e-07 5.8e-07 1 0 WWP2 11060 broad.mit.edu 37 16 69969816 69969816 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr16:69969816C>T uc002exu.1 + 19 1992 c.1903C>T c.(1903-1905)CTC>TTC p.L635F WWP2_uc002exv.1_Missense_Mutation_p.L635F|WWP2_uc010vlm.1_Missense_Mutation_p.L519F|WWP2_uc010vln.1_Missense_Mutation_p.L253F|WWP2_uc002exw.1_Missense_Mutation_p.L196F NM_007014 NP_008945 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 635 HECT. entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity lung(3)|ovary(1)|breast(1)|skin(1) 6 CAAGCGGATGCTCAATAAGAG 0.547 NA 32 157 0 0 0 0 ZFHX3 463 broad.mit.edu 37 16 72830136 72830136 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr16:72830136G>A uc002fck.2 - 9 7118 c.6445C>T c.(6445-6447)CGC>TGC p.R2149C ZFHX3_uc002fcl.2_Missense_Mutation_p.R1235C NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 2149 Homeobox 1. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) ATCCTGGTGCGAGGCCTCTTG 0.547 NA 12 64 0 0 0 0 TSR1 55720 broad.mit.edu 37 17 2234280 2234280 + Silent SNP G G T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr17:2234280G>T uc002fuj.2 - 9 2577 c.1620C>A c.(1618-1620)ATC>ATA p.I540I SNORD91B_uc002fuk.1_5'Flank|SNORD91A_uc002ful.1_5'Flank NM_018128 NP_060598 Q2NL82 TSR1_HUMAN TSR1, 20S rRNA accumulation 540 ribosome assembly nucleolus protein binding ovary(1) 1 CCTCTTTAAAGATGCTTTTCC 0.393 NA 7 66 2.01e-06 2.17e-06 1 0 CAMKK1 84254 broad.mit.edu 37 17 3783646 3783646 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr17:3783646C>T uc002fwt.2 - 9 884 c.790G>A c.(790-792)GAG>AAG p.E264K CAMKK1_uc002fwu.2_Missense_Mutation_p.E264K|CAMKK1_uc002fwv.2_Missense_Mutation_p.E302K NM_172206 NP_757343 Q8N5S9 KKCC1_HUMAN calcium/calmodulin-dependent protein kinase 1 264 Protein kinase. synaptic transmission cytosol|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1) 1 LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176) TCACAGTACTCGAGGCCCAGG 0.652 NA 7 38 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7576927 7576927 + Splice_Site SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr17:7576927C>G uc002gim.2 - 9 1114 c.920_splice c.e9-1 p.A307_splice TP53_uc002gig.1_Intron|TP53_uc002gih.2_Splice_Site_p.A307_splice|TP53_uc010cne.1_Splice_Site|TP53_uc010cnf.1_Splice_Site_p.A175_splice|TP53_uc010cng.1_Splice_Site_p.A175_splice|TP53_uc002gii.1_Splice_Site_p.A175_splice|TP53_uc010cnh.1_Splice_Site_p.A307_splice|TP53_uc010cni.1_Splice_Site_p.A307_splice|TP53_uc002gij.2_Splice_Site_p.A307_splice NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(16)|p.0?(7)|p.A307fs*34(1)|p.L308fs*31(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTGGGCAGTGCTAGGAAAGAG 0.493 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 16 73 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577099 7577099 + Missense_Mutation SNP C C G rs121912660 TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr17:7577099C>G uc002gim.2 - 8 1033 c.839G>C c.(838-840)AGA>ACA p.R280T TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R280T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148T|TP53_uc010cng.1_Missense_Mutation_p.R148T|TP53_uc002gii.1_Missense_Mutation_p.R148T|TP53_uc010cnh.1_Missense_Mutation_p.R280T|TP53_uc010cni.1_Missense_Mutation_p.R280T|TP53_uc002gij.2_Missense_Mutation_p.R280T NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 280 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.D281fs*24(1)|p.V272_K292del21(1)|p.C275fs*20(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCGCCGGTCTCTCCCAGGACA 0.542 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 3 28 0 0 0 0 NCOR1 9611 broad.mit.edu 37 17 16089965 16089965 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr17:16089965C>T uc002gpo.2 - 3 385 c.145G>A c.(145-147)GAA>AAA p.E49K NCOR1_uc002gpn.2_Missense_Mutation_p.E49K|NCOR1_uc002gpp.1_Intron|NCOR1_uc002gpr.2_Intron|NCOR1_uc002gps.1_Missense_Mutation_p.E49K|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpb.1_Missense_Mutation_p.E49K|NCOR1_uc010cpa.1_Missense_Mutation_p.E49K|NCOR1_uc002gpu.2_Missense_Mutation_p.E49K NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 49 Interaction with ZBTB33 and HEXIM1. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TGACTCACTTCAAGATGAGAG 0.408 NA 6 80 0 0 0 0 MKS1 54903 broad.mit.edu 37 17 56289744 56289744 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr17:56289744C>G uc002ivr.1 - 9 985 c.910G>C c.(910-912)GAG>CAG p.E304Q MKS1_uc010wnq.1_Missense_Mutation_p.E101Q|MKS1_uc002ivs.1_Missense_Mutation_p.E304Q NM_017777 NP_060247 Q9NXB0 MKS1_HUMAN Meckel syndrome type 1 protein isoform 1 304 cilium assembly centrosome|cilium|microtubule basal body protein binding ovary(1) 1 CTCACCATCTCAAAGTCGGTG 0.502 NA 18 84 0 0 0 0 LPO 4025 broad.mit.edu 37 17 56345268 56345268 + Silent SNP C C T rs3744104 TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr17:56345268C>T uc002ivt.2 + 13 2368 c.2052C>T c.(2050-2052)TTC>TTT p.F684F LPO_uc010wns.1_Silent_p.F625F|LPO_uc010dcp.2_Silent_p.F601F|LPO_uc010dcq.2_Silent_p.F355F|LPO_uc010dcr.2_Silent_p.F247F NM_006151 NP_006142 P22079 PERL_HUMAN lactoperoxidase isoform 1 preproprotein 684 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|breast(1) 2 GGGACCCATTCTGGGCCAACA 0.572 NA 18 104 0 0 0 0 ICAM2 3384 broad.mit.edu 37 17 62081150 62081150 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr17:62081150G>A uc002jdu.3 - 3 735 c.503C>T c.(502-504)CCG>CTG p.P168L C17orf72_uc002jdt.3_3'UTR|C17orf72_uc010wpu.1_3'UTR|C17orf72_uc010wpv.1_3'UTR|C17orf72_uc010wpw.1_3'UTR|ICAM2_uc002jdw.3_Missense_Mutation_p.P168L|ICAM2_uc010ded.2_Missense_Mutation_p.P168L|ICAM2_uc002jdx.3_Missense_Mutation_p.P168L|ICAM2_uc002jdv.3_Missense_Mutation_p.P168L NM_000873 NP_000864 P13598 ICAM2_HUMAN intercellular adhesion molecule 2 precursor 168 Ig-like C2-type 2.|Extracellular (Potential). cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding ovary(1) 1 GGCCTCCTGCGGAGCAGGGGC 0.627 NA 16 74 0 0 0 0 AXIN2 8313 broad.mit.edu 37 17 63537611 63537611 + Missense_Mutation SNP C C A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr17:63537611C>A uc002jfi.2 - 4 1310 c.1021G>T c.(1021-1023)GTG>TTG p.V341L AXIN2_uc010den.1_Missense_Mutation_p.V341L|AXIN2_uc002jfh.2_Missense_Mutation_p.V341L NM_004655 NP_004646 Q9Y2T1 AXIN2_HUMAN axin 2 341 Interaction with GSK3B (By similarity). cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding central_nervous_system(1)|skin(1) 2 TTGGCCTTCACACTGCGATGC 0.473 NA Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome 15 117 5.35e-07 5.8e-07 1 0 APOH 350 broad.mit.edu 37 17 64216816 64216816 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr17:64216816G>A uc002jfn.3 - 5 519 c.460C>T c.(460-462)CGT>TGT p.R154C NM_000042 NP_000033 P02749 APOH_HUMAN apolipoprotein H precursor 154 Sushi 3. blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding 0 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) TTATAAACACGAAGTGTTGCA 0.383 NA 14 96 0 0 0 0 NPTX1 4884 broad.mit.edu 37 17 78444754 78444754 + Silent SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr17:78444754C>T uc002jyp.1 - 5 1316 c.1158G>A c.(1156-1158)CTG>CTA p.L386L NM_002522 NP_002513 Q15818 NPTX1_HUMAN neuronal pentraxin I precursor 386 Pentaxin. central nervous system development|synaptic transmission|transport transport vesicle metal ion binding 0 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487) CCCCGGGGGTCAGCTTGCGGT 0.592 NA 14 84 0 0 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6890002 6890002 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr18:6890002C>G uc010wzi.1 + 12 1359 c.1121C>G c.(1120-1122)TCT>TGT p.S374C ARHGAP28_uc002knc.2_Missense_Mutation_p.S499C|ARHGAP28_uc002knd.2_Missense_Mutation_p.S392C|ARHGAP28_uc002kne.2_Missense_Mutation_p.S392C|ARHGAP28_uc002knf.2_Missense_Mutation_p.S383C B4DXL2 B4DXL2_HUMAN SubName: Full=Putative uncharacterized protein ARHGAP28; 374 signal transduction intracellular pancreas(1) 1 Colorectal(10;0.168) AGCAAACACTCTGATTATGAA 0.398 NA 12 85 0 0 0 0 THEG 51298 broad.mit.edu 37 19 362264 362264 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr19:362264G>A uc002lol.2 - 8 1115 c.1076C>T c.(1075-1077)TCT>TTT p.S359F THEG_uc002lom.2_Missense_Mutation_p.S335F NM_016585 NP_057669 Q9P2T0 THEG_HUMAN Theg homolog isoform 1 359 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding ovary(1) 1 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAAGCTCATAGAGGCGAGGGG 0.602 NA 24 152 0 0 0 0 HAUS8 93323 broad.mit.edu 37 19 17170416 17170416 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr19:17170416G>A uc002nfe.2 - 6 482 c.371C>T c.(370-372)TCA>TTA p.S124L HAUS8_uc002nff.2_Missense_Mutation_p.S123L|HAUS8_uc002nfg.1_Missense_Mutation_p.S63L|HAUS8_uc002nfh.1_Missense_Mutation_p.S124L NM_033417 NP_219485 Q9BT25 HAUS8_HUMAN sarcoma antigen NY-SAR-48 isoform a 124 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole 0 AGGTTTCTTTGATATTGTTTT 0.428 NA 13 78 0 0 0 0 ZNF208 7757 broad.mit.edu 37 19 22154039 22154039 + Nonsense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr19:22154039G>C uc002nqp.2 - 6 3562 c.3413C>G c.(3412-3414)TCA>TGA p.S1138* ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) ACTGAAGACTGATAACCAGCT 0.388 NA 6 56 0 0 0 0 RYR1 6261 broad.mit.edu 37 19 38959733 38959733 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr19:38959733C>G uc002oit.2 + 26 3639 c.3509C>G c.(3508-3510)TCT>TGT p.S1170C RYR1_uc002oiu.2_Missense_Mutation_p.S1170C NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1170 6 X approximate repeats.|Cytoplasmic.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GTCCTCATGTCTGACTCAGGC 0.468 NA 10 100 0 0 0 0 ZNF221 7638 broad.mit.edu 37 19 44470712 44470712 + Missense_Mutation SNP T T A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr19:44470712T>A uc002oxx.2 + 6 1386 c.1058T>A c.(1057-1059)CTT>CAT p.L353H ZNF221_uc010ejb.1_Missense_Mutation_p.L353H|ZNF221_uc010xws.1_Missense_Mutation_p.L353H NM_013359 NP_037491 Q9UK13 ZN221_HUMAN zinc finger protein 221 353 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Prostate(69;0.0352) AGATCAGCACTTAATAGTCAT 0.403 NA 18 121 0 0 0 0 SNRNP70 6625 broad.mit.edu 37 19 49610936 49610936 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr19:49610936C>T uc002pmk.2 + 9 1071 c.632C>T c.(631-633)TCA>TTA p.S211L SNRNP70_uc002pmh.1_RNA|SNRNP70_uc002pmi.1_Missense_Mutation_p.S211L|SNRNP70_uc002pml.2_5'UTR|SNRNP70_uc002pmm.2_RNA NM_003089 NP_003080 P08621 RU17_HUMAN U1 small nuclear ribonucleoprotein 70 kDa 211 nuclear mRNA splicing, via spliceosome|regulation of RNA splicing nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding 0 ATCCGGCATTCAGGCCGCGAT 0.657 NA 12 63 0 0 0 0 LILRB3 11025 broad.mit.edu 37 19 54724540 54724540 + Silent SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr19:54724540G>A uc002qef.1 - 6 1227 c.1116C>T c.(1114-1116)TAC>TAT p.Y372Y LILRB3_uc002qee.1_Silent_p.Y372Y|LILRB3_uc002qeh.1_Silent_p.Y372Y|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Silent_p.Y372Y|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Silent_p.Y372Y|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Silent_p.Y372Y|LILRB3_uc002qep.1_Silent_p.Y372Y|LILRB3_uc002qeq.1_Silent_p.Y372Y|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Silent_p.Y372Y|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron NM_006864 NP_006855 O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, 372 Extracellular (Potential).|Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity p.Y372Y(1) skin(2)|ovary(1) 3 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TATGAGCTCCGTACATTGATC 0.567 NA 20 49 0 0 0 0 FAM179A 165186 broad.mit.edu 37 2 29240094 29240094 + Silent SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:29240094G>A uc010ezl.2 + 9 1470 c.1119G>A c.(1117-1119)CGG>CGA p.R373R FAM179A_uc010ymm.1_Silent_p.R373R|FAM179A_uc002rmr.3_Intron NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN hypothetical protein LOC165186 373 binding ovary(3)|skin(1) 4 AGCTGCTTCGGAGGCTGGAGG 0.577 NA 14 76 0 0 0 0 SOCS5 9655 broad.mit.edu 37 2 46986940 46986940 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:46986940G>C uc002rvf.2 + 2 1435 c.1271G>C c.(1270-1272)AGA>ACA p.R424T SOCS5_uc010yoe.1_Missense_Mutation_p.R393T|SOCS5_uc002rvg.2_Missense_Mutation_p.R424T NM_014011 NP_054730 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 424 SH2. cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth ovary(1)|lung(1)|central_nervous_system(1) 3 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) CGCTACAACAGATCCCTGCAT 0.517 NA 16 94 0 0 0 0 PDCL3 79031 broad.mit.edu 37 2 101188255 101188255 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:101188255G>C uc002tao.2 + 5 684 c.572G>C c.(571-573)AGA>ACA p.R191T NM_024065 NP_076970 Q9H2J4 PDCL3_HUMAN phosducin-like 3 191 apoptosis|interspecies interaction between organisms cytoplasm protein binding 0 AACCTGACAAGAGATGGTAAG 0.502 NA 30 162 0 0 0 0 POTEE 445582 broad.mit.edu 37 2 132021797 132021797 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:132021797C>G uc002tsn.2 + 15 2821 c.2769C>G c.(2767-2769)TTC>TTG p.F923L PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.F523L|POTEE_uc002tsl.2_Missense_Mutation_p.F505L|POTEE_uc010fmy.1_Missense_Mutation_p.F387L NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 923 Actin-like. ATP binding 0 CCCTGGACTTCGAGCAGGAGA 0.597 NA 17 383 0 0 0 0 GPR39 2863 broad.mit.edu 37 2 133174980 133174980 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:133174980C>T uc002ttl.2 + 1 834 c.365C>T c.(364-366)ACG>ATG p.T122M NM_001508 NP_001499 O43194 GPR39_HUMAN G protein-coupled receptor 39 122 Helical; Name=3; (Potential). integral to plasma membrane G-protein coupled receptor activity|metal ion binding 0 AGCTACGCTACGCTGCTGCAC 0.572 NA 17 61 0 0 0 0 NEB 4703 broad.mit.edu 37 2 152383461 152383461 + Missense_Mutation SNP C C A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:152383461C>A uc010fnx.2 - 120 17004 c.16813G>T c.(16813-16815)GCC>TCC p.A5605S NEB_uc002txr.2_Missense_Mutation_p.A2028S|NEB_uc002txt.3_Missense_Mutation_p.A110S NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 5605 Nebulin 153. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TTCCTGAGGGCGAGCACCGTG 0.463 NA 4 20 4.1e-09 4.55e-09 1 0 TTN 7273 broad.mit.edu 37 2 179529384 179529384 + Nonsense_Mutation SNP C C A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:179529384C>A uc010zfk.1 - 12 1185 c.637G>T c.(637-639)GAA>TAA p.E213* TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron Q8WZ42 TITIN_HUMAN SubName: Full=Titin; Flags: Fragment; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) GATATACCTTCATCAGGAAGG 0.378 NA 11 69 4.69e-08 5.17e-08 1 0 TTN 7273 broad.mit.edu 37 2 179611406 179611406 + Missense_Mutation SNP C C G rs147119153 TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:179611406C>G uc002unb.2 - 46 15945 c.15721G>C c.(15721-15723)GAA>CAA p.E5241Q TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 8760 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E5241K(1) ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTAGAAATTTCCAGTGAACAC 0.393 NA 10 155 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179611715 179611715 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:179611715C>T uc002unb.2 - 46 15636 c.15412G>A c.(15412-15414)GAA>AAA p.E5138K TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 1039 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) TCTTCCCTTTCTATTTTTGAT 0.443 NA 36 141 0 0 0 0 AOX1 316 broad.mit.edu 37 2 201485524 201485524 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:201485524G>C uc002uvx.2 + 17 1957 c.1856G>C c.(1855-1857)AGA>ACA p.R619T AOX1_uc010zhf.1_Missense_Mutation_p.R175T|AOX1_uc010fsu.2_Intron NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 619 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) ACTAGTTCAAGAGCTCATGCT 0.423 NA 9 35 0 0 0 0 CASP8 841 broad.mit.edu 37 2 202131505 202131505 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:202131505C>T uc002uxr.1 + 3 505 c.296C>T c.(295-297)TCT>TTT p.S99F CASP8_uc010ftc.1_Missense_Mutation_p.S99F|CASP8_uc002uxo.1_Missense_Mutation_p.S99F|CASP8_uc002uxp.1_Missense_Mutation_p.S99F|CASP8_uc002uxq.1_Missense_Mutation_p.S99F|CASP8_uc002uxs.1_Missense_Mutation_p.S99F|CASP8_uc002uxt.1_Missense_Mutation_p.S158F|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.S99F|CASP8_uc002uxw.1_Missense_Mutation_p.S99F|CASP8_uc002uxy.1_Missense_Mutation_p.S99F|CASP8_uc002uxx.1_Missense_Mutation_p.S99F|CASP8_uc010ftf.2_Missense_Mutation_p.S99F NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 99 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 GCTCAAATTTCTGCCTACAGG 0.493 NA HNSCC(4;0.00038) 5 42 0 0 0 0 ARPC2 10109 broad.mit.edu 37 2 219082227 219082227 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:219082227G>A uc002vhd.2 + 2 146 c.34G>A c.(34-36)GAG>AAG p.E12K ARPC2_uc002vhe.2_Missense_Mutation_p.E12K NM_152862 NP_690601 O15144 ARPC2_HUMAN actin related protein 2/3 complex subunit 2 12 cellular component movement Arp2/3 protein complex|cell projection|Golgi apparatus actin binding|structural constituent of cytoskeleton ovary(1) 1 Renal(207;0.0474) Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103) CCGCATCATCGAGGAGACGCT 0.473 NA 6 36 0 0 0 0 NMUR1 10316 broad.mit.edu 37 2 232392867 232392867 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:232392867C>T uc002vry.3 - 2 975 c.865G>A c.(865-867)GAT>AAT p.D289N NM_006056 NP_006047 Q9HB89 NMUR1_HUMAN neuromedin U receptor 1 289 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction integral to plasma membrane|membrane fraction neuromedin U receptor activity lung(3)|central_nervous_system(1)|pancreas(1) 5 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) CGGCCCCGATCGTGCTGCTGG 0.652 NA 11 74 0 0 0 0 ACSS1 84532 broad.mit.edu 37 20 24989982 24989982 + Nonsense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr20:24989982G>C uc002wub.2 - 13 2692 c.1814C>G c.(1813-1815)TCA>TGA p.S605* ACSS1_uc002wuc.2_Nonsense_Mutation_p.S603*|ACSS1_uc010gdc.2_Nonsense_Mutation_p.S400*|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Nonsense_Mutation_p.S522* NM_032501 NP_115890 Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 605 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding ovary(1)|skin(1) 2 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CACCACATCTGAGTCACCCGC 0.502 NA 36 190 0 0 0 0 UBASH3A 53347 broad.mit.edu 37 21 43862566 43862566 + Silent SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr21:43862566C>G uc002zbe.2 + 12 1527 c.1491C>G c.(1489-1491)CTC>CTG p.L497L UBASH3A_uc002zbf.2_Silent_p.L459L|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Silent_p.L459L NM_018961 NP_061834 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing, 497 Phosphatase-like. cytosol|nucleus ovary(3) 3 ATCCAGAACTCAAACTGGAGA 0.428 NA 19 113 0 0 0 0 DGCR6L 85359 broad.mit.edu 37 22 20307265 20307265 + Silent SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr22:20307265G>C uc002zrx.2 - 2 265 c.168C>G c.(166-168)CTC>CTG p.L56L DGCR6L_uc010gsb.2_RNA|DGCR6L_uc010gsc.2_Silent_p.L56L NM_033257 NP_150282 Q9BY27 DGC6L_HUMAN DiGeorge syndrome critical region gene 6 like 56 nucleus 0 Colorectal(54;0.0993) CGGTGCCGTCGAGAAGCGCCA 0.652 NA 6 22 0 0 0 0 CSNK1E 1454 broad.mit.edu 37 22 38698935 38698935 + Silent SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr22:38698935G>C uc003avj.2 - 4 528 c.267C>G c.(265-267)CTC>CTG p.L89L CSNK1E_uc003avk.2_Silent_p.L89L|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Silent_p.L89L|CSNK1E_uc003avo.2_Silent_p.L89L|CSNK1E_uc003avp.1_Silent_p.L89L|CSNK1E_uc003avq.1_Silent_p.L89L|LOC400927_uc010gxm.2_RNA NM_152221 NP_689407 P49674 KC1E_HUMAN casein kinase 1 epsilon 89 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1) 3 Melanoma(58;0.045) ACAGGTCCTCGAGGCTAGGCC 0.622 NA 16 89 0 0 0 0 EP300 2033 broad.mit.edu 37 22 41556666 41556666 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr22:41556666G>A uc003azl.3 + 20 4006 c.3611G>A c.(3610-3612)TGT>TAT p.C1204Y NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1204 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.Y1198_L1243del(1) haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 TGTGAGAAGTGTTTCAATGAG 0.468 NA T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 19 85 0 0 0 0 CLEC3B 7123 broad.mit.edu 37 3 45077267 45077267 + Missense_Mutation SNP T T C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr3:45077267T>C uc003cok.3 + 3 556 c.460T>C c.(460-462)TAC>CAC p.Y154H CLEC3B_uc003col.2_Missense_Mutation_p.Y112H NM_003278 NP_003269 P05452 TETN_HUMAN C-type lectin domain family 3, member B 154 C-type lectin. skeletal system development extracellular space protein binding|sugar binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCGCATCGCCTACAAGAACTG 0.667 NA 3 73 0 0 0 0 MST1R 4486 broad.mit.edu 37 3 49927421 49927421 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr3:49927421C>T uc003cxy.3 - 19 4147 c.3883G>A c.(3883-3885)GAC>AAC p.D1295N MST1R_uc011bdc.1_Missense_Mutation_p.D174N NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 1295 Cytoplasmic (Potential).|Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TGGGTAAGGTCAAAAGGGTCA 0.532 NA 11 83 0 0 0 0 DNAH1 25981 broad.mit.edu 37 3 52394093 52394093 + Silent SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr3:52394093G>A uc011bef.1 + 27 4830 c.4569G>A c.(4567-4569)CTG>CTA p.L1523L NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1523 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCTCACAGCTGAGGTGAGGAC 0.562 NA 20 93 0 0 0 0 CCDC66 285331 broad.mit.edu 37 3 56605280 56605280 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr3:56605280G>A uc003dhz.2 + 7 973 c.886G>A c.(886-888)GAA>AAA p.E296K CCDC66_uc003dhy.2_5'UTR|CCDC66_uc003dhu.2_Missense_Mutation_p.E262K|CCDC66_uc003dhx.2_RNA NM_001141947 NP_001135419 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 isoform 1 296 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) GAAAAAATCTGAAAGTGATAA 0.269 NA 15 89 0 0 0 0 ROBO2 6092 broad.mit.edu 37 3 77666886 77666886 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr3:77666886G>C uc003dpy.3 + 22 4159 c.3516G>C c.(3514-3516)TTG>TTC p.L1172F ROBO2_uc003dpz.2_Missense_Mutation_p.L1176F|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.L1176F|ROBO2_uc003dqa.2_Missense_Mutation_p.L299F NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 1172 Cytoplasmic (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TGGATGAGTTGACAAGAGCCT 0.433 NA 10 65 0 0 0 0 ROBO1 6091 broad.mit.edu 37 3 78656171 78656171 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr3:78656171G>A uc003dqe.2 - 29 4664 c.4456C>T c.(4456-4458)CCG>TCG p.P1486S ROBO1_uc003dqb.2_Missense_Mutation_p.P1447S|ROBO1_uc003dqc.2_Missense_Mutation_p.P1386S|ROBO1_uc003dqd.2_Missense_Mutation_p.P1441S|ROBO1_uc010hoh.2_Missense_Mutation_p.P678S|ROBO1_uc011bgl.1_Missense_Mutation_p.P1058S NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 1486 Cytoplasmic (Potential). activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GCAGGTGGCGGCACAGGAGGT 0.423 NA 4 75 0 0 0 0 DRD3 1814 broad.mit.edu 37 3 113850003 113850003 + Missense_Mutation SNP C C A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr3:113850003C>A uc003ebd.2 - 7 1391 c.968G>T c.(967-969)CGG>CTG p.R323L DRD3_uc010hqn.1_Missense_Mutation_p.R323L|DRD3_uc003ebb.1_Missense_Mutation_p.R290L|DRD3_uc003ebc.1_Missense_Mutation_p.R323L NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 323 Cytoplasmic. activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) CTTCTTCTCCCGAAGTGGCAC 0.403 NA 22 109 7.42e-09 8.22e-09 1 0 ACPP 55 broad.mit.edu 37 3 132047150 132047150 + Missense_Mutation SNP C C A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr3:132047150C>A uc010htp.2 + 2 250 c.160C>A c.(160-162)CCC>ACC p.P54T ACPP_uc003eon.3_Missense_Mutation_p.P54T|ACPP_uc003eop.3_Missense_Mutation_p.P54T NM_001099 NP_001090 P15309 PPAP_HUMAN acid phosphatase, prostate short isoform 54 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity ovary(1) 1 TGACACCTTTCCCACTGACCC 0.443 NA 7 80 1.26e-09 1.41e-09 1 0 GPR149 344758 broad.mit.edu 37 3 154146734 154146734 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr3:154146734C>T uc003faa.2 - 1 771 c.671G>A c.(670-672)AGA>AAA p.R224K NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 224 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(6) 6 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GGAGTGGAGTCTCGGCGGCTC 0.577 NA 10 84 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr3:178952085A>G uc003fjk.2 + 21 3297 c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378 H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 7 53 0 0 0 0 GP5 2814 broad.mit.edu 37 3 194118459 194118459 + Missense_Mutation SNP G G T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr3:194118459G>T uc003ftv.1 - 2 584 c.553C>A c.(553-555)CTG>ATG p.L185M NM_004488 NP_004479 P40197 GPV_HUMAN glycoprotein V (platelet) precursor 185 Extracellular (Potential).|LRR 5. blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane skin(2)|breast(1) 3 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) CCCTTGGGCAGGTGGGTCAGG 0.542 NA 19 83 9.77e-05 0.000103274 1 0 ZNF141 7700 broad.mit.edu 37 4 337651 337651 + Silent SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr4:337651G>A uc003gaa.2 + 3 262 c.84G>A c.(82-84)TTG>TTA p.L28L ZNF141_uc003fzz.2_Silent_p.L28L|ZNF141_uc003gab.2_Silent_p.L28L NM_003441 NP_003432 Q15928 ZN141_HUMAN zinc finger protein 141 28 KRAB. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 0 AGCAGAATTTGTATAGAGATG 0.388 NA 4 145 0 0 0 0 WHSC2 7469 broad.mit.edu 37 4 1985396 1985396 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr4:1985396C>G uc003gem.2 - 10 1602 c.1362G>C c.(1360-1362)GAG>GAC p.E454D WHSC2_uc003gek.2_Missense_Mutation_p.E180D|WHSC2_uc003gel.2_Missense_Mutation_p.E368D|WHSC2_uc003gen.2_Missense_Mutation_p.E308D NM_005663 NP_005654 Q9H3P2 NELFA_HUMAN Wolf-Hirschhorn syndrome candidate 2 protein 443 multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm skin(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0155) TCTTGAACATCTCCTGGGCAG 0.657 NA 12 61 0 0 0 0 WHSC2 7469 broad.mit.edu 37 4 1985419 1985419 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr4:1985419C>G uc003gem.2 - 10 1579 c.1339G>C c.(1339-1341)GAG>CAG p.E447Q WHSC2_uc003gek.2_Missense_Mutation_p.E173Q|WHSC2_uc003gel.2_Missense_Mutation_p.E361Q|WHSC2_uc003gen.2_Missense_Mutation_p.E301Q NM_005663 NP_005654 Q9H3P2 NELFA_HUMAN Wolf-Hirschhorn syndrome candidate 2 protein 436 multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm skin(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0155) AACATCTGCTCTCTCTACAGC 0.667 NA 8 47 0 0 0 0 DCAF16 54876 broad.mit.edu 37 4 17805653 17805653 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr4:17805653C>T uc003gpn.2 - 3 1173 c.112G>A c.(112-114)GAA>AAA p.E38K DCAF16_uc003gpo.2_RNA NM_017741 NP_060211 Q9NXF7 DCA16_HUMAN DDB1 and CUL4 associated factor 16 38 CUL4 RING ubiquitin ligase complex ovary(1) 1 GAGTCCTCTTCTTCAGAGGAA 0.423 NA 13 103 0 0 0 0 CWH43 80157 broad.mit.edu 37 4 49052833 49052833 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr4:49052833G>C uc003gyv.2 + 15 2170 c.1988G>C c.(1987-1989)AGA>ACA p.R663T CWH43_uc011bzl.1_Missense_Mutation_p.R636T NM_025087 NP_079363 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog 663 GPI anchor biosynthetic process integral to membrane skin(2)|ovary(1) 3 ATAGACCACAGAGAAGTTTCT 0.398 NA 5 51 0 0 0 0 SCLT1 132320 broad.mit.edu 37 4 129857913 129857913 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr4:129857913C>G uc003igp.2 - 18 2232 c.1726G>C c.(1726-1728)GAA>CAA p.E576Q SCLT1_uc003ign.2_Missense_Mutation_p.E240Q|SCLT1_uc003igo.2_Missense_Mutation_p.E186Q|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron NM_144643 NP_653244 Q96NL6 SCLT1_HUMAN sodium channel associated protein 1 576 Potential. centrosome ovary(3)|lung(1)|central_nervous_system(1) 5 TGCCTCAGTTCAACAATGGAA 0.363 NA 7 35 0 0 0 0 MARCH11 441061 broad.mit.edu 37 5 16067874 16067874 + Silent SNP A A T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr5:16067874A>T uc003jfo.2 - 4 1128 c.915T>A c.(913-915)GTT>GTA p.V305V MARCH11_uc010itw.1_Silent_p.V61V NM_001102562 NP_001096032 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 305 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding 0 ACACTCTGTAAACTGCAGCTC 0.408 NA 6 46 0 0 0 0 MGC42105 167359 broad.mit.edu 37 5 43246074 43246074 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr5:43246074C>T uc003jno.2 + 2 1078 c.197C>T c.(196-198)ACG>ATG p.T66M NM_153361 NP_699192 Q8IY84 NIM1_HUMAN serine/threonine-protein kinase NIM1 66 ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1) 9 AGGGAGATCACGCTGGGGAAA 0.552 NA 14 102 0 0 0 0 CWC27 10283 broad.mit.edu 37 5 64267529 64267529 + Splice_Site SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr5:64267529G>C uc003jtn.1 + 12 1262 c.1043_splice c.e12-1 p.E348_splice CWC27_uc010iwt.1_Splice_Site_p.E348_splice NM_005869 NP_005860 Q6UX04 CWC27_HUMAN serologically defined colon cancer antigen 10 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity 0 CTATTCTTTAGAGGAAGAAGC 0.418 NA 7 92 0 0 0 0 MARVELD2 153562 broad.mit.edu 37 5 68715437 68715437 + Silent SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr5:68715437C>G uc003jwq.2 + 2 284 c.225C>G c.(223-225)CTC>CTG p.L75L MARVELD2_uc010ixf.2_Silent_p.L75L|MARVELD2_uc003jwr.1_Silent_p.L75L|MARVELD2_uc003jws.1_RNA NM_001038603 NP_001033692 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 isoform 1 75 Cytoplasmic (Potential). sensory perception of sound integral to membrane|tight junction 0 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) CGCCAGATCTCAAACCAGTAA 0.522 NA 9 66 0 0 0 0 ZNF366 167465 broad.mit.edu 37 5 71757020 71757020 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr5:71757020C>G uc003kce.1 - 2 490 c.304G>C c.(304-306)GAG>CAG p.E102Q NM_152625 NP_689838 Q8N895 ZN366_HUMAN zinc finger protein 366 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) TTGTTCTCCTCTGAGTGGAGG 0.582 NA 54 232 0 0 0 0 KIF3A 11127 broad.mit.edu 37 5 132051521 132051521 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr5:132051521C>G uc003kxo.2 - 8 1211 c.1057G>C c.(1057-1059)GAA>CAA p.E353Q KIF3A_uc003kxn.2_Missense_Mutation_p.E312Q|KIF3A_uc011cxf.1_Missense_Mutation_p.E353Q|KIF3A_uc003kxp.2_Missense_Mutation_p.E353Q NM_007054 NP_008985 Q9Y496 KIF3A_HUMAN kinesin family member 3A 353 blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding pancreas(1) 1 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTTGGATCTTCATTAATTCTA 0.333 NA 9 48 0 0 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237074 140237074 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr5:140237074G>A uc003lhx.2 + 1 1441 c.1441G>A c.(1441-1443)GCG>ACG p.A481T 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_Missense_Mutation_p.A481T|PCDHA10_uc011dad.1_Missense_Mutation_p.A481T NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 481 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGTGGGACGCGGACGCGCA 0.662 NA 24 142 0 0 0 0 SH3TC2 79628 broad.mit.edu 37 5 148427536 148427536 + Silent SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr5:148427536G>A uc003lpu.2 - 3 320 c.168C>T c.(166-168)TTC>TTT p.F56F SH3TC2_uc003lpp.1_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Silent_p.F56F|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_5'UTR|SH3TC2_uc003lpw.1_Silent_p.F56F NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 56 binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTTTACACAGAAGGAGAGTG 0.502 NA 20 171 0 0 0 0 C5orf41 153222 broad.mit.edu 37 5 172550143 172550143 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr5:172550143C>T uc003mch.2 + 8 2046 c.1742C>T c.(1741-1743)CCA>CTA p.P581L C5orf41_uc011dfd.1_Missense_Mutation_p.P581L NM_153607 NP_705835 Q8IUR6 CE041_HUMAN luman-recruiting factor 581 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GTACAGAATCCAAGAGATGAG 0.363 NA 14 103 0 0 0 0 ZNF354A 6940 broad.mit.edu 37 5 178152447 178152447 + Silent SNP C C T rs146853988 by1000genomes TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr5:178152447C>T uc003mjj.2 - 4 384 c.186G>A c.(184-186)GTG>GTA p.V62V NM_005649 NP_005640 O60765 Z354A_HUMAN zinc finger protein 354A 62 KRAB. regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) ACAGGGAGATCACTTTTGGTT 0.468 NA 15 113 0 0 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178563011 178563011 + Missense_Mutation SNP T T C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr5:178563011T>C uc003mjw.2 - 13 1984 c.1984A>G c.(1984-1986)AGG>GGG p.R662G NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 662 Cys-rich. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CCGGTCTCCCTGGACTCGCAG 0.632 NA 5 144 0 0 0 0 HSPA1L 3305 broad.mit.edu 37 6 31779660 31779660 + Silent SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr6:31779660G>A uc003nxh.2 - 2 273 c.90C>T c.(88-90)ATC>ATT p.I30I HSPA1L_uc010jte.2_Silent_p.I30I NM_005527 NP_005518 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 30 response to unfolded protein ATP binding ovary(3)|pleura(1)|kidney(1)|skin(1) 6 CGTTGGCGATGATCTCCACCT 0.607 NA 8 120 0 0 0 0 CYP21A2 1589 broad.mit.edu 37 6 31975160 31975160 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr6:31975160G>A uc010jtp.2 + 8 971 c.853G>A c.(853-855)GCT>ACT p.A285T CYP21A2_uc011dpb.1_Missense_Mutation_p.A255T P08686 CP21A_HUMAN SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2; SubName: Full=Cytochrome P450 21-hydroxylase; SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2, isoform CRA_b; SubName: Full=DJ34F7.3 (Cytochrome P450, subfamily XXIA (Steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 (CYP21, P450c21B)); SubName: Full=cDNA, FLJ95495, Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2(CYP21A2), mRNA; 284 glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding 0 CTTGCACATGGCTGCAGTGGA 0.607 NA 35 187 0 0 0 0 ZNF318 24149 broad.mit.edu 37 6 43323487 43323487 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr6:43323487G>A uc003oux.2 - 4 1663 c.1585C>T c.(1585-1587)CCC>TCC p.P529S ZNF318_uc003ouw.2_RNA NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 529 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TCAATGTCGGGAAAGCTACGT 0.488 NA 87 334 0 0 0 0 TFAP2D 83741 broad.mit.edu 37 6 50740385 50740385 + Silent SNP G G A rs149503577 TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr6:50740385G>A uc003paf.2 + 8 1679 c.1167G>A c.(1165-1167)CCG>CCA p.P389P TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 389 H-S-H (helix-span-helix), dimerization. DNA binding|sequence-specific DNA binding transcription factor activity p.P389L(1) ovary(6)|breast(1) 7 Lung NSC(77;0.0334) TTGGGACTCCGGCAATATGTG 0.428 NA 12 69 0 0 0 0 PKHD1 5314 broad.mit.edu 37 6 51612823 51612823 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr6:51612823C>G uc003pah.1 - 58 9867 c.9591G>C c.(9589-9591)CAG>CAC p.Q3197H PKHD1_uc010jzn.1_Missense_Mutation_p.Q1180H|PKHD1_uc003pai.2_Missense_Mutation_p.Q3197H NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3197 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) TAAGCACAATCTGCACTTTTT 0.423 NA 27 164 0 0 0 0 PKHD1 5314 broad.mit.edu 37 6 51934279 51934279 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr6:51934279G>C uc003pah.1 - 11 1030 c.754C>G c.(754-756)CTT>GTT p.L252V PKHD1_uc003pai.2_Missense_Mutation_p.L252V NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 252 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) TATAGGAAAAGATCCTGTTTA 0.453 NA 42 247 0 0 0 0 MCM3 4172 broad.mit.edu 37 6 52129419 52129419 + Silent SNP G G T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr6:52129419G>T uc003pan.1 - 17 2504 c.2394C>A c.(2392-2394)GTC>GTA p.V798V MCM3_uc011dwu.1_Silent_p.V752V NM_002388 NP_002379 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 798 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding ovary(1)|lung(1)|skin(1) 3 Lung NSC(77;0.0931) CAGACACCATGACCTGATTGT 0.532 NA 11 139 0.000978159 0.00102707 1 0 SYNCRIP 10492 broad.mit.edu 37 6 86346765 86346765 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr6:86346765C>G uc003pla.2 - 6 1127 c.586G>C c.(586-588)GAT>CAT p.D196H SYNCRIP_uc003pku.2_Missense_Mutation_p.D196H|SYNCRIP_uc003pkw.2_Missense_Mutation_p.D196H|SYNCRIP_uc003pky.2_Missense_Mutation_p.D98H|SYNCRIP_uc003pkv.2_Missense_Mutation_p.D196H|SYNCRIP_uc003pkx.2_Missense_Mutation_p.D44H|SYNCRIP_uc003pkz.2_Missense_Mutation_p.D196H NM_006372 NP_006363 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA 196 RRM 1. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding ovary(2) 2 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) GTGAGTGGATCCATCATTAGA 0.403 NA 9 69 0 0 0 0 BACH2 60468 broad.mit.edu 37 6 90660199 90660199 + Silent SNP G G C rs142894061 by1000genomes TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr6:90660199G>C uc011eab.1 - 7 2435 c.1626C>G c.(1624-1626)CTC>CTG p.L542L BACH2_uc003pnw.2_Silent_p.L542L|BACH2_uc010kch.2_Silent_p.L542L NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 542 nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) AGAACTCACAGAGAGGGAGGC 0.607 NA 26 55 0 0 0 0 KIAA1919 91749 broad.mit.edu 37 6 111587118 111587118 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr6:111587118G>A uc003puv.3 + 4 775 c.353G>A c.(352-354)GGA>GAA p.G118E NM_153369 NP_699200 Q5TF39 NAGT1_HUMAN sodium-dependent glucose transporter 1 118 Cytoplasmic (Potential). carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(3) 3 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) GGGGACAAAGGAGCCCCACAT 0.433 NA 27 70 0 0 0 0 UTRN 7402 broad.mit.edu 37 6 144780337 144780337 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr6:144780337C>T uc003qkt.2 + 20 2646 c.2554C>T c.(2554-2556)CAC>TAC p.H852Y UTRN_uc010khq.1_Missense_Mutation_p.H852Y NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 852 Interaction with SYNM.|Spectrin 6. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TCTTGGCCTTCACCCCAAAAT 0.507 NA 4 54 0 0 0 0 C1GALT1 56913 broad.mit.edu 37 7 7278194 7278194 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr7:7278194G>C uc010ktn.2 + 3 752 c.529G>C c.(529-531)GAC>CAC p.D177H C1GALT1_uc003sra.2_Missense_Mutation_p.D177H|C1GALT1_uc010kto.1_Missense_Mutation_p.D177H NM_020156 NP_064541 Q9NS00 C1GLT_HUMAN core 1 synthase, 177 Lumenal (Potential). angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) TGTCATACTAGACAATTTGAG 0.368 NA 8 69 0 0 0 0 DNAH11 8701 broad.mit.edu 37 7 21939660 21939660 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr7:21939660G>A uc003svc.2 + 82 13277 c.13246G>A c.(13246-13248)GAT>AAT p.D4416N NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4416 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 CTTGACTGCTGATGTTACCAA 0.448 NA Kartagener_syndrome 13 48 0 0 0 0 ZNF735 730291 broad.mit.edu 37 7 63680190 63680190 + Nonsense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr7:63680190C>G uc011kdn.1 + 4 761 c.761C>G c.(760-762)TCA>TGA p.S254* NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN zinc finger protein 735 254 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGGTGGCCCTCAAACCTTACT 0.453 NA 4 17 0 0 0 0 ABCB1 5243 broad.mit.edu 37 7 87148696 87148696 + Missense_Mutation SNP C C T rs144369247 TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr7:87148696C>T uc003uiz.1 - 24 3291 c.2873G>A c.(2872-2874)CGG>CAG p.R958Q ABCB1_uc011khc.1_Missense_Mutation_p.R894Q NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 958 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GGCTCCAAACCGGAAACATCC 0.323 NA 10 60 0 0 0 0 ADAM22 53616 broad.mit.edu 37 7 87782587 87782587 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr7:87782587C>T uc003ujn.2 + 21 1812 c.1733C>T c.(1732-1734)ACG>ATG p.T578M ADAM22_uc003ujk.1_Missense_Mutation_p.T578M|ADAM22_uc003ujl.1_Missense_Mutation_p.T578M|ADAM22_uc003ujm.2_Missense_Mutation_p.T578M|ADAM22_uc003ujo.2_Missense_Mutation_p.T578M|ADAM22_uc003ujp.1_Missense_Mutation_p.T630M NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 578 Cys-rich.|Extracellular (Potential). cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) ATTGAAGGGACGGAGAAGGGT 0.433 NA 6 46 0 0 0 0 OR2AE1 81392 broad.mit.edu 37 7 99474426 99474426 + Silent SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr7:99474426G>A uc003usc.1 - 1 231 c.231C>T c.(229-231)ATC>ATT p.I77I NM_001005276 NP_001005276 Q8NHA4 O2AE1_HUMAN olfactory receptor, family 2, subfamily AE, 77 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) TCTTCAGGATGATTGTGGAGA 0.483 NA 16 71 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100676143 100676143 + Silent SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr7:100676143G>A uc003uxp.1 + 3 1499 c.1446G>A c.(1444-1446)CAG>CAA p.Q482Q MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 482 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|6. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CCAAAACTCAGGTGACCACTT 0.473 NA 60 407 0 0 0 0 SYPL1 6856 broad.mit.edu 37 7 105752650 105752650 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr7:105752650G>A uc003vdp.2 - 2 141 c.59C>T c.(58-60)TCC>TTC p.S20F SYPL1_uc003vdo.2_Missense_Mutation_p.S2F NM_006754 NP_006745 Q16563 SYPL1_HUMAN synaptophysin-like 1 isoform a 20 Cytoplasmic (Potential). synaptic transmission cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle transporter activity 0 CTGGAAGCCGGACATCCTCTG 0.557 NA 7 53 0 0 0 0 CNOT4 4850 broad.mit.edu 37 7 135098284 135098284 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr7:135098284G>A uc003vsv.1 - 6 947 c.640C>T c.(640-642)CAT>TAT p.H214Y CNOT4_uc003vss.2_Missense_Mutation_p.H214Y|CNOT4_uc011kpz.1_Missense_Mutation_p.H214Y|CNOT4_uc003vst.2_Missense_Mutation_p.H214Y|CNOT4_uc003vsu.1_Missense_Mutation_p.H214Y|CNOT4_uc011kpy.1_Missense_Mutation_p.H214Y NM_001008225 NP_001008226 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 214 C3H1-type. nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding 0 CCCAATTCATGAAGATACATG 0.408 NA 12 84 0 0 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138418934 138418934 + Silent SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr7:138418934G>A uc003vuf.2 - 15 1876 c.1638C>T c.(1636-1638)ATC>ATT p.I546I ATP6V0A4_uc003vug.2_Silent_p.I546I|ATP6V0A4_uc003vuh.2_Silent_p.I546I NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 546 Helical; (Potential). cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 CAATTCCCAGGATCACCGACA 0.428 NA 7 49 0 0 0 0 MTMR7 9108 broad.mit.edu 37 8 17157648 17157648 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr8:17157648G>C uc003wxm.2 - 14 1945 c.1706C>G c.(1705-1707)TCT>TGT p.S569C MTMR7_uc011kya.1_Missense_Mutation_p.S203C|MTMR7_uc011kyb.1_Missense_Mutation_p.S160C NM_004686 NP_004677 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 569 protein tyrosine phosphatase activity skin(1) 1 Colorectal(111;0.112) GTCTGAGGTAGAAAACCCTGA 0.438 NA 25 155 0 0 0 0 IDO1 3620 broad.mit.edu 37 8 39781060 39781060 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr8:39781060G>C uc003xnm.2 + 7 724 c.610G>C c.(610-612)GCT>CCT p.A204P IDO1_uc003xnn.2_RNA NM_002164 NP_002155 P14902 I23O1_HUMAN indoleamine 2,3-dioxygenase 1 204 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2) 2 L-Tryptophan(DB00150) GTTGGAAATAGCTTCTTGCTT 0.423 NA 6 45 0 0 0 0 RB1CC1 9821 broad.mit.edu 37 8 53570373 53570373 + Silent SNP T T A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr8:53570373T>A uc003xre.3 - 15 2574 c.2016A>T c.(2014-2016)CCA>CCT p.P672P RB1CC1_uc003xrf.3_Silent_p.P672P NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Rb1-inducible coiled coil protein 1 isoform 1 672 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 11 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) CAGTCAGTGGTGGAGGAGTTC 0.443 NA 10 70 0 0 0 0 EYA1 2138 broad.mit.edu 37 8 72267089 72267089 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr8:72267089C>T uc003xys.3 - 2 339 c.52G>A c.(52-54)GAA>AAA p.E18K EYA1_uc003xyr.3_Missense_Mutation_p.E18K|EYA1_uc003xyt.3_Intron|EYA1_uc010lzf.2_5'UTR|EYA1_uc003xyu.2_Missense_Mutation_p.E18K|EYA1_uc011lfe.1_Missense_Mutation_p.E18K|EYA1_uc003xyv.2_5'UTR NM_172058 NP_742055 Q99502 EYA1_HUMAN eyes absent 1 isoform b 18 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 5 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) CTGGGGGATTCACTACTACCA 0.453 NA 29 188 0 0 0 0 E2F5 1875 broad.mit.edu 37 8 86114424 86114424 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr8:86114424G>A uc003ycz.3 + 2 314 c.277G>A c.(277-279)GAT>AAT p.D93N E2F5_uc003yda.3_Missense_Mutation_p.D93N|E2F5_uc010mab.2_5'UTR NM_001951 NP_001942 Q15329 E2F5_HUMAN E2F transcription factor 5 isoform 1 93 Potential.|DEF box.|Leucine-zipper. G1 phase of mitotic cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(1) 1 GAGAATTTATGATATCACCAA 0.383 NA 6 35 0 0 0 0 FZD6 8323 broad.mit.edu 37 8 104336827 104336827 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr8:104336827C>G uc003ylh.2 + 4 777 c.493C>G c.(493-495)CTT>GTT p.L165V FZD6_uc003yli.2_Missense_Mutation_p.L165V|FZD6_uc003ylj.2_Missense_Mutation_p.L165V|FZD6_uc011lhn.1_Missense_Mutation_p.L131V|FZD6_uc011lho.1_Intron|FZD6_uc011lhp.1_Missense_Mutation_p.L110V NM_003506 NP_003497 O60353 FZD6_HUMAN frizzled 6 isoform a precursor 165 Extracellular (Potential). angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) TCCAAGGCATCTTAAGACTTC 0.428 NA 22 139 0 0 0 0 TG 7038 broad.mit.edu 37 8 133885398 133885398 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr8:133885398G>C uc003ytw.2 + 5 611 c.570G>C c.(568-570)ATG>ATC p.M190I NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 190 Thyroglobulin type-1 3. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GAGAGTTTATGCCTGTCCAGT 0.502 NA 8 55 0 0 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971029 21971029 + Nonsense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr9:21971029C>T uc003zpk.2 - 2 541 c.329G>A c.(328-330)TGG>TAG p.W110* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.L165L NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 110 ANK 4. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CAGACGGCCCCAGGCATCGCG 0.731 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 5 25 0 0 0 0 SPAG8 26206 broad.mit.edu 37 9 35810671 35810671 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr9:35810671C>T uc003zye.2 - 4 1163 c.1048G>A c.(1048-1050)GAA>AAA p.E350K SPAG8_uc003zyf.2_Missense_Mutation_p.E267K|SPAG8_uc003zyg.2_Missense_Mutation_p.E350K NM_172312 NP_758516 Q99932 SPAG8_HUMAN sperm associated antigen 8 isoform 2 350 acrosomal vesicle|membrane ovary(1) 1 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) AGCATGGCTTCACGCTTCCCT 0.527 NA 5 48 0 0 0 0 PRUNE2 158471 broad.mit.edu 37 9 79318700 79318700 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr9:79318700G>A uc010mpk.2 - 9 7953 c.7829C>T c.(7828-7830)TCT>TTT p.S2610F PRUNE2_uc004akj.3_Missense_Mutation_p.S63F|PRUNE2_uc010mpl.1_Missense_Mutation_p.S63F NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 2610 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 TTTCTCTGCAGAGAGACCTTT 0.453 NA 13 90 0 0 0 0 TRUB2 26995 broad.mit.edu 37 9 131084698 131084698 + Splice_Site SNP C C A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr9:131084698C>A uc004buq.1 - 1 1 c.-9_splice c.e1-1 COQ4_uc011max.1_5'Flank|COQ4_uc004bur.3_5'Flank|COQ4_uc004bus.2_5'Flank|COQ4_uc010mxy.2_5'Flank NM_015679 NP_056494 O95900 TRUB2_HUMAN TruB pseudouridine (psi) synthase homolog 2 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding ovary(1) 1 ACTTGAAGATCACAGCACCCG 0.622 NA 13 49 0.000151284 0.000159609 1 0 EDF1 8721 broad.mit.edu 37 9 139757370 139757370 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr9:139757370C>G uc004cjt.1 - 4 401 c.373G>C c.(373-375)GAG>CAG p.E125Q EDF1_uc004cju.1_Missense_Mutation_p.E125Q NM_003792 NP_003783 O60869 EDF1_HUMAN endothelial differentiation-related factor 1 125 HTH cro/C1-type. endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent cytoplasm|cytoplasm|nucleolus|nucleus calmodulin binding|protein binding|protein binding|sequence-specific DNA binding|transcription coactivator activity 0 all_cancers(76;0.0841)|all_epithelial(76;0.217) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) ATGGCCCGCTCGATTTTGCCA 0.582 NA 12 83 0 0 0 0 DMD 1756 broad.mit.edu 37 X 31986458 31986458 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chrX:31986458C>G uc004dda.1 - 45 6856 c.6612G>C c.(6610-6612)AAG>AAC p.K2204N DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.K860N|DMD_uc004dcx.2_Missense_Mutation_p.K863N|DMD_uc004dcz.2_Missense_Mutation_p.K2081N|DMD_uc004dcy.1_Missense_Mutation_p.K2200N|DMD_uc004ddb.1_Missense_Mutation_p.K2196N|DMD_uc010ngo.1_Missense_Mutation_p.K113N|DMD_uc010ngn.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2204 Spectrin 15. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CGCCCTACCTCTTTTTTCTGT 0.398 NA 17 180 0 0 0 0 ZNF182 7569 broad.mit.edu 37 X 47837082 47837082 + Missense_Mutation SNP C C G rs140603964 TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chrX:47837082C>G uc004dir.2 - 7 750 c.404G>C c.(403-405)CGT>CCT p.R135P ZNF182_uc004dis.2_Missense_Mutation_p.R116P|ZNF182_uc004dit.2_Missense_Mutation_p.R135P|ZNF182_uc011mlu.1_Missense_Mutation_p.R115P NM_006962 NP_008893 P17025 ZN182_HUMAN zinc finger protein 21 isoform 1 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 ATGACAGTCACGAGCACTCTT 0.378 NA 14 85 0 0 0 0 TBC1D25 4943 broad.mit.edu 37 X 48417355 48417355 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chrX:48417355G>C uc004dka.1 + 4 570 c.459G>C c.(457-459)GAG>GAC p.E153D TBC1D25_uc011mly.1_Missense_Mutation_p.E95D|TBC1D25_uc004dkb.1_5'UTR|TBC1D25_uc011mlz.1_5'UTR|TBC1D25_uc011mma.1_Intron|TBC1D25_uc004dkc.1_5'UTR|TBC1D25_uc011mmb.1_Missense_Mutation_p.E157D|TBC1D25_uc011mmc.1_5'UTR|TBC1D25_uc011mmd.1_Intron NM_002536 NP_002527 Q3MII6 TBC25_HUMAN TBC1 domain family, member 25 153 intracellular Rab GTPase activator activity ovary(1) 1 TGCTGGCTGAGAAACGGTCAT 0.537 NA 6 68 0 0 0 0 FAM123B 139285 broad.mit.edu 37 X 63412536 63412536 + Missense_Mutation SNP C C A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chrX:63412536C>A uc004dvo.2 - 2 904 c.631G>T c.(631-633)GCC>TCC p.A211S NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 211 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 ACCTGAGGGGCTGAGCTCACG 0.597 NA 13 89 1.5e-05 1.6e-05 1 0 MED12 9968 broad.mit.edu 37 X 70346843 70346843 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chrX:70346843G>C uc004dyy.2 + 20 2909 c.2710G>C c.(2710-2712)GAG>CAG p.E904Q MED12_uc011mpq.1_Missense_Mutation_p.E904Q|MED12_uc004dyz.2_Missense_Mutation_p.E904Q|MED12_uc004dza.2_Missense_Mutation_p.E751Q|MED12_uc010nla.2_5'Flank NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 904 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) GAGTGTAGTTGAGGCTGAGCT 0.542 NA 10 102 0 0 0 0 NAP1L2 4674 broad.mit.edu 37 X 72433878 72433878 + Missense_Mutation SNP T T C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chrX:72433878T>C uc004ebi.2 - 1 807 c.451A>G c.(451-453)AGA>GGA p.R151G NAP1L2_uc011mqj.1_Missense_Mutation_p.R9G NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 151 nucleosome assembly chromatin assembly complex lung(1) 1 Renal(35;0.156) ATCTGACGTCTTTTTTCCAGT 0.383 NA 3 205 0 0 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996182 140996182 + Missense_Mutation SNP C C A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chrX:140996182C>A uc004fbt.2 + 4 3278 c.2992C>A c.(2992-2994)CGC>AGC p.R998S MAGEC1_uc010nsl.1_Missense_Mutation_p.R65S NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 998 MAGE. protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GTCCCAGAACCGCCTCCTGAT 0.512 NA HNSCC(15;0.026) 20 185 2.38e-13 2.69e-13 1 0 FAM3A 60343 broad.mit.edu 37 X 153735817 153735817 + Silent SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chrX:153735817G>C uc004fls.1 - 7 667 c.390C>G c.(388-390)GTC>GTG p.V130V FAM3A_uc004flt.1_Silent_p.V144V|FAM3A_uc011mzp.1_Silent_p.V113V|FAM3A_uc004flu.1_Silent_p.V127V|FAM3A_uc011mzq.1_Silent_p.V130V|FAM3A_uc004flw.1_Silent_p.V130V NM_021806 NP_068578 P98173 FAM3A_HUMAN family 3, member A protein precursor 130 extracellular region large_intestine(1) 1 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACAGGTCGTTGACATCTGGGG 0.582 NA 7 31 0 0 0 0 CASP5 838 broad.mit.edu 37 11 104879687 104879687 + Frame_Shift_Del DEL T T - TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr11:104879687delT uc010rva.1 - 2 60 c.28delA c.(28-30)AGGfs p.R10fs CASP5_uc010ruz.1_Frame_Shift_Del_p.R23fs|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron NM_004347 NP_004338 P51878 CASP5_HUMAN caspase 5 isoform a precursor 10 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) TTCTTACGCCTTTTTTTTTTG 0.388 NA 7 86 --- --- --- --- NA NA NA NA C12orf42 374470 broad.mit.edu 37 12 103695960 103695960 + Frame_Shift_Del DEL G G - TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr12:103695960delG uc001tjt.2 - 6 1097 c.1009delC c.(1009-1011)CGCfs p.R337fs C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Frame_Shift_Del_p.R337fs|C12orf42_uc001tju.2_Frame_Shift_Del_p.R242fs NM_198521 NP_940923 Q96LP6 CL042_HUMAN hypothetical protein LOC374470 337 ovary(1)|central_nervous_system(1) 2 CGGGTTGGGCGGGGGGGTGCT 0.587 NA 8 173 --- --- --- --- NA NA NA NA LUC7L3 51747 broad.mit.edu 37 17 48827881 48827882 + Frame_Shift_Ins INS - - A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr17:48827881_48827882insA uc002isr.2 + 10 1275_1276 c.1158_1159insA c.(1156-1161)GATAAAfs p.D386fs LUC7L3_uc010wmw.1_Frame_Shift_Ins_p.D310fs|LUC7L3_uc002isq.2_Frame_Shift_Ins_p.D386fs|LUC7L3_uc002iss.2_Frame_Shift_Ins_p.D386fs|uc002ist.1_5'Flank NM_006107 NP_006098 O95232 LC7L3_HUMAN LUC7-like 3 386_387 Arg/Ser-rich. apoptosis|mRNA processing|response to stress|RNA splicing focal adhesion|nuclear speck DNA binding|mRNA binding|protein binding 0 GATCTGATGATAAAAAAAGTAG 0.356 NA 11 146 --- --- --- --- NA NA NA NA KIAA1919 91749 broad.mit.edu 37 6 111587361 111587361 + Frame_Shift_Del DEL T T - TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr6:111587361delT uc003puv.3 + 4 1018 c.596delT c.(595-597)ATTfs p.I199fs NM_153369 NP_699200 Q5TF39 NAGT1_HUMAN sodium-dependent glucose transporter 1 199 Helical; (Potential). carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(3) 3 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) GTTTCTGTCATTTTTTTTTGT 0.368 NA 8 71 --- --- --- --- NA NA NA NA HAS2 3037 broad.mit.edu 37 8 122626357 122626358 + Frame_Shift_Ins INS - - AA TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr8:122626357_122626358insAA uc003yph.2 - 4 2188_2189 c.1650_1651insTT c.(1648-1653)CTTGATfs p.L550fs NM_005328 NP_005319 Q92819 HAS2_HUMAN hyaluronan synthase 2 550_551 Extracellular (Potential). integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) soft_tissue(10)|ovary(5) 15 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) GATCATACATCAAGCACCATGT 0.446 NA 30 98 --- --- --- --- NA NA NA NA