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 NADK 65220 broad.mit.edu 37 1 1686106 1686106 + Silent SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:1686106C>T uc009vkw.2 - 8 841 c.720G>A c.(718-720)CTG>CTA p.L240L NADK_uc001aic.2_Silent_p.L240L|NADK_uc001aid.3_Silent_p.L240L|NADK_uc001aie.2_Silent_p.L385L|NADK_uc010nyv.1_Silent_p.L208L|NADK_uc009vkx.1_Silent_p.L118L NM_023018 NP_075394 O95544 NADK_HUMAN NAD kinase 240 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) CCCTGACCTTCAGCCGACTCC 0.647 NA 60 22 0 0 0 0 SPEN 23013 broad.mit.edu 37 1 16258889 16258889 + Nonsense_Mutation SNP A A T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:16258889A>T uc001axk.1 + 11 6358 c.6154A>T c.(6154-6156)AAA>TAA p.K2052* SPEN_uc010obp.1_Nonsense_Mutation_p.K2011* NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 2052 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TGGCACAGACAAAAACCCCCC 0.502 NA 28 10 0 0 0 0 NBPF1 55672 broad.mit.edu 37 1 16893786 16893786 + Missense_Mutation SNP T T A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:16893786T>A uc009vos.1 - 26 3840 c.2952A>T c.(2950-2952)AGA>AGT p.R984S NBPF1_uc009vot.1_Missense_Mutation_p.R367S|NBPF1_uc001ayz.1_Missense_Mutation_p.R367S|NBPF1_uc010oce.1_Missense_Mutation_p.R638S NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 984 NBPF 6. cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TTGAATAACATCTATCCAGTG 0.493 NA 66 657 0 0 0 0 ZNF683 257101 broad.mit.edu 37 1 26691127 26691127 + Missense_Mutation SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:26691127T>C uc001bmg.1 - 4 1028 c.910A>G c.(910-912)ACA>GCA p.T304A ZNF683_uc001bmh.1_Missense_Mutation_p.T304A|ZNF683_uc009vsj.1_Missense_Mutation_p.T304A NM_173574 NP_775845 Q8IZ20 ZN683_HUMAN zinc finger protein 683 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) GCGGTGCCTGTCTGGGAACTC 0.577 NA 3 130 0 0 0 0 MANEAL 149175 broad.mit.edu 37 1 38265848 38265848 + Missense_Mutation SNP C C G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:38265848C>G uc001cby.2 + 4 1428 c.1347C>G c.(1345-1347)ATC>ATG p.I449M MANEAL_uc001cbx.2_3'UTR|MANEAL_uc001cbz.2_Missense_Mutation_p.I227M NM_001113482 NP_001106954 Q5VSG8 MANEL_HUMAN mannosidase, endo-alpha-like isoform 3 449 Lumenal (Potential). Golgi membrane|integral to membrane hydrolase activity 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AGCACTTCATCAAAGAGAAGG 0.582 NA 44 18 0 0 0 0 MSH4 4438 broad.mit.edu 37 1 76276476 76276476 + Missense_Mutation SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:76276476T>C uc001dhd.1 + 4 724 c.683T>C c.(682-684)ATC>ACC p.I228T NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 228 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 TTCACTCTGATCACAGAAAAT 0.264 NA MMR 27 11 0 0 0 0 BCL10 8915 broad.mit.edu 37 1 85733454 85733454 + Silent SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:85733454G>A uc001dkz.2 - 4 1263 c.558C>T c.(556-558)ATC>ATT p.I186I NM_003921 NP_003912 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 186 apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding lung(2) 2 all cancers(265;0.0114)|Epithelial(280;0.0311) TTGAAGAGAAGATGGTATTTT 0.458 NA T IGH@ MALT 19 10 0 0 0 0 BRDT 676 broad.mit.edu 37 1 92446620 92446620 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:92446620C>A uc001dok.3 + 10 1984 c.1635C>A c.(1633-1635)AGC>AGA p.S545R BRDT_uc001dol.3_Missense_Mutation_p.S545R|BRDT_uc010osz.1_Missense_Mutation_p.S549R|BRDT_uc009wdf.2_Missense_Mutation_p.S472R|BRDT_uc010ota.1_Missense_Mutation_p.S499R|BRDT_uc010otb.1_Missense_Mutation_p.S499R|BRDT_uc001dom.3_Missense_Mutation_p.S545R NM_207189 NP_997072 Q58F21 BRDT_HUMAN testis-specific bromodomain protein 545 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity stomach(2)|ovary(1)|lung(1) 4 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) CTTCTCTGAGCAATTCCAATC 0.368 NA 29 11 1.51e-07 5.59e-07 1 0 SLC19A2 10560 broad.mit.edu 37 1 169446399 169446399 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:169446399C>A uc001gge.3 - 2 1005 c.801G>T c.(799-801)GAG>GAT p.E267D SLC19A2_uc001ggf.3_Intron NM_006996 NP_008927 O60779 S19A2_HUMAN solute carrier family 19, member 2 267 Cytoplasmic (Potential). thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity 0 all_hematologic(923;0.208) TTACCGGTTCCTCCACGGGAG 0.478 NA 56 79 5.73e-24 2.24e-23 1 0 F5 2153 broad.mit.edu 37 1 169511140 169511140 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:169511140C>T uc001ggg.1 - 13 3333 c.3188G>A c.(3187-3189)AGA>AAA p.R1063K NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 1063 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) ATGCTTAAGTCTTCTTTCTGA 0.423 NA 66 130 0 0 0 0 LAD1 3898 broad.mit.edu 37 1 201356297 201356297 + Silent SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:201356297G>A uc001gwm.2 - 3 427 c.192C>T c.(190-192)AGC>AGT p.S64S LAD1_uc009wzu.1_Silent_p.S86S NM_005558 NP_005549 O00515 LAD1_HUMAN ladinin 1 64 basement membrane structural molecule activity 0 CTTCTTCCACGCTCGGTAGTC 0.557 NA 21 47 0 0 0 0 GNPAT 8443 broad.mit.edu 37 1 231406686 231406686 + Missense_Mutation SNP A A G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:231406686A>G uc001hup.3 + 10 1668 c.1462A>G c.(1462-1464)ATT>GTT p.I488V GNPAT_uc009xfp.2_Missense_Mutation_p.I427V NM_014236 NP_055051 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase 488 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity ovary(3)|breast(1) 4 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) GCTGCTCAACATTTTTGTGCG 0.453 NA 68 92 0 0 0 0 ZNF695 57116 broad.mit.edu 37 1 247150864 247150864 + Missense_Mutation SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:247150864T>C uc009xgu.2 - 4 1098 c.953A>G c.(952-954)CAT>CGT p.H318R ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron NM_020394 NP_065127 Q8IW36 ZN695_HUMAN zinc finger protein SBZF3 318 C2H2-type 6. regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CTCTCTACTATGAATTCTCTT 0.348 NA 9 13 0 0 0 0 MYO3A 53904 broad.mit.edu 37 10 26377179 26377179 + Missense_Mutation SNP G G T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr10:26377179G>T uc001isn.2 + 15 1767 c.1407G>T c.(1405-1407)TTG>TTT p.L469F MYO3A_uc009xko.1_Missense_Mutation_p.L469F|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.L469F NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 469 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 TGAACAATTTGGTAGAAGCCT 0.294 NA 15 21 3.46e-05 0.000124777 1 0 CCAR1 55749 broad.mit.edu 37 10 70514524 70514524 + Silent SNP T T A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr10:70514524T>A uc001joo.2 + 12 1517 c.1398T>A c.(1396-1398)GCT>GCA p.A466A CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Silent_p.A271A|CCAR1_uc009xpx.1_Silent_p.A440A|CCAR1_uc001jon.1_Silent_p.A412A|CCAR1_uc010qiz.1_Silent_p.A451A|CCAR1_uc010qja.1_Silent_p.A451A|CCAR1_uc010qjb.1_RNA|SNORD98_uc001jop.1_5'Flank NM_018237 NP_060707 Q8IX12 CCAR1_HUMAN cell-cycle and apoptosis regulatory protein 1 466 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding ovary(6)|large_intestine(1) 7 AGTCATGTGCTCTTGCTGAGG 0.358 NA 32 44 0 0 0 0 DDX21 9188 broad.mit.edu 37 10 70728814 70728814 + Silent SNP A A G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr10:70728814A>G uc001jov.1 + 7 1263 c.1173A>G c.(1171-1173)AAA>AAG p.K391K DDX21_uc001jow.1_Silent_p.K323K NM_004728 NP_004719 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 391 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1) 3 AATACATGAAATCTACATATG 0.363 NA 34 48 0 0 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105362339 105362339 + Missense_Mutation SNP T T A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr10:105362339T>A uc001kxj.1 - 14 2692 c.2552A>T c.(2551-2553)TAT>TTT p.Y851F SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.Y686F|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.Y728F|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.Y686F|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.Y794F NM_014631 NP_055446 Q5TCZ1 SPD2A_HUMAN SH3 multiple domains 1 879 SH3 4. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding 0 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) AAACCTCACATACCACCACCC 0.612 NA 29 34 0 0 0 0 GRK5 2869 broad.mit.edu 37 10 121207759 121207759 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr10:121207759C>T uc001led.2 + 13 1624 c.1391C>T c.(1390-1392)CCC>CTC p.P464L GRK5_uc009xzh.2_Missense_Mutation_p.P329L NM_005308 NP_005299 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 464 AGC-kinase C-terminal. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity lung(2)|stomach(1) 3 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) TTGGACCCTCCCTTCGTTCCA 0.627 NA 70 100 0 0 0 0 BAG3 9531 broad.mit.edu 37 10 121411327 121411327 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr10:121411327C>T uc001lem.2 + 1 446 c.140C>T c.(139-141)ACT>ATT p.T47I BAG3_uc001lel.2_Missense_Mutation_p.T47I NM_004281 NP_004272 O95817 BAG3_HUMAN BCL2-associated athanogene 3 47 WW 1. anti-apoptosis|apoptosis|protein folding cytosol ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) AGCCGCACCACTACGTGGAAC 0.726 NA 24 17 0 0 0 0 CDHR5 53841 broad.mit.edu 37 11 621106 621106 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:621106C>T uc001lqj.2 - 7 868 c.763G>A c.(763-765)GGG>AGG p.G255R CDHR5_uc001lqk.2_Missense_Mutation_p.G255R|CDHR5_uc009ycc.2_Missense_Mutation_p.G89R|CDHR5_uc009ycd.2_Missense_Mutation_p.G255R|CDHR5_uc001lql.2_Missense_Mutation_p.G255R|CDHR5_uc001lqm.2_Missense_Mutation_p.G89R|CDHR5_uc009yce.1_Missense_Mutation_p.G224R NM_021924 NP_068743 Q9HBB8 CDHR5_HUMAN mucin and cadherin-like isoform 1 255 Cadherin 3.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 GGGACAGCCCCGTGGTACTGA 0.652 NA 24 29 0 0 0 0 MUC5B 727897 broad.mit.edu 37 11 1261156 1261156 + Silent SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:1261156G>A uc009ycr.1 + 44 5916 c.5790G>A c.(5788-5790)GCG>GCA p.A1930A MUC5B_uc001ltb.2_Silent_p.A1240A|MUC5B_uc001lta.2_Silent_p.A905A NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 1237 Cys-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TCCCCACAGCGGAGAACTGCC 0.657 NA 6 20 0 0 0 0 OR52A5 390054 broad.mit.edu 37 11 5153166 5153166 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:5153166G>A uc010qyx.1 - 1 707 c.707C>T c.(706-708)GCA>GTA p.A236V NM_001005160 NP_001005160 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, 236 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|lung(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) CTTGAATCGTGCCTCCTTCTG 0.408 NA 14 35 0 0 0 0 OR4C15 81309 broad.mit.edu 37 11 55322553 55322553 + Silent SNP G G T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:55322553G>T uc010rig.1 + 1 771 c.771G>T c.(769-771)GGG>GGT p.G257G NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 203 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TCAACAGTGGGTTTATCTGCA 0.463 NA HNSCC(20;0.049) 15 22 3.27e-08 1.22e-07 1 0 OR4C6 219432 broad.mit.edu 37 11 55433051 55433051 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:55433051C>T uc001nht.3 + 3 674 c.409C>T c.(409-411)CGG>TGG p.R137W OR4C6_uc010rik.1_Missense_Mutation_p.R137W NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 137 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 CATGAGTCCACGGGTGTGCTG 0.512 NA 48 18 0 0 0 0 KAT5 10524 broad.mit.edu 37 11 65482325 65482325 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:65482325G>A uc001ofi.2 + 9 1124 c.874G>A c.(874-876)GAG>AAG p.E292K KAT5_uc001ofj.2_Missense_Mutation_p.E240K|KAT5_uc001ofk.2_Missense_Mutation_p.E325K|KAT5_uc010roo.1_Missense_Mutation_p.E273K|KAT5_uc001ofl.2_Missense_Mutation_p.E81K NM_006388 NP_006379 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 isoform 2 292 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity 0 TCCAGGCAATGAGATTTACCG 0.537 NA 36 99 0 0 0 0 ODZ4 26011 broad.mit.edu 37 11 78516412 78516412 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:78516412C>A uc001ozl.3 - 15 2567 c.2104G>T c.(2104-2106)GGC>TGC p.G702C NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 702 Extracellular (Potential).|EGF-like 5. signal transduction integral to membrane ovary(2)|pancreas(2) 4 GTTCCGTGGCCTGAACACTGG 0.607 NA 6 3 8.13e-05 0.000290292 1 0 NOX4 50507 broad.mit.edu 37 11 89070672 89070672 + Silent SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:89070672C>T uc001pct.2 - 16 1697 c.1458G>A c.(1456-1458)GAG>GAA p.E486E NOX4_uc009yvr.2_Silent_p.E461E|NOX4_uc001pcu.2_Silent_p.E412E|NOX4_uc001pcw.2_Silent_p.E179E|NOX4_uc001pcx.2_Silent_p.E139E|NOX4_uc001pcv.2_Silent_p.E446E|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Silent_p.E299E|NOX4_uc009yvp.2_Silent_p.E250E|NOX4_uc010rtv.1_Silent_p.E422E|NOX4_uc009yvq.2_Silent_p.E462E NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a 486 Cytoplasmic (Potential).|Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) CAGGTCTGTTCTCTTGCCAAA 0.368 NA 5 22 0 0 0 0 CNTN5 53942 broad.mit.edu 37 11 100169994 100169994 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:100169994C>T uc001pga.2 + 20 2825 c.2486C>T c.(2485-2487)TCT>TTT p.S829F CNTN5_uc001pfz.2_Missense_Mutation_p.S829F|CNTN5_uc001pgb.2_Missense_Mutation_p.S755F|CNTN5_uc010ruk.1_Missense_Mutation_p.S100F NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 829 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GTGACATCCTCTGAAGCTTCC 0.433 NA 46 11 0 0 0 0 EXPH5 23086 broad.mit.edu 37 11 108380450 108380450 + Silent SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:108380450G>A uc001pkk.2 - 6 5895 c.5784C>T c.(5782-5784)AAC>AAT p.N1928N EXPH5_uc010rvy.1_Silent_p.N1740N|EXPH5_uc010rvz.1_Silent_p.N1772N|EXPH5_uc010rwa.1_Silent_p.N1852N NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1928 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GGTTGGGAGGGTTCCTCAAAT 0.413 NA 50 13 0 0 0 0 UBE4A 9354 broad.mit.edu 37 11 118263519 118263519 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:118263519C>T uc001psw.2 + 19 3112 c.2983C>T c.(2983-2985)CCC>TCC p.P995S UBE4A_uc001psv.2_Missense_Mutation_p.P1002S NM_004788 NP_004779 Q14139 UBE4A_HUMAN ubiquitination factor E4A 995 U-box. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 5 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) GTTCCTGGATCCCATTATGAG 0.473 NA 131 26 0 0 0 0 TECTA 7007 broad.mit.edu 37 11 121058640 121058640 + Silent SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:121058640C>T uc010rzo.1 + 20 6099 c.6099C>T c.(6097-6099)TAC>TAT p.Y2033Y NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 2033 ZP. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TAGGGGATTACGACGAAGTTC 0.453 NA 72 15 0 0 0 0 KCNJ1 3758 broad.mit.edu 37 11 128709211 128709211 + Missense_Mutation SNP C C G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:128709211C>G uc001qeo.1 - 2 1036 c.985G>C c.(985-987)GTA>CTA p.V329L KCNJ1_uc001qep.1_Missense_Mutation_p.V310L|KCNJ1_uc001qeq.1_Missense_Mutation_p.V310L|KCNJ1_uc001qer.1_Missense_Mutation_p.V310L|KCNJ1_uc001qes.1_Missense_Mutation_p.V310L NM_000220 NP_000211 P48048 IRK1_HUMAN potassium inwardly-rectifying channel J1 isoform 329 Cytoplasmic (By similarity). excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity ovary(3)|breast(1) 4 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) GTCTTGGATACTATGGGAGCA 0.493 NA 44 37 0 0 0 0 TNFRSF1A 7132 broad.mit.edu 37 12 6438514 6438514 + Silent SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:6438514G>A uc001qnu.2 - 10 1613 c.1332C>T c.(1330-1332)CCC>CCT p.P444P TNFRSF1A_uc001qnt.2_Silent_p.P336P|TNFRSF1A_uc010sey.1_Silent_p.P212P|TNFRSF1A_uc010sez.1_Silent_p.P336P|TNFRSF1A_uc009zek.2_Silent_p.P401P NM_001065 NP_001056 P19438 TNR1A_HUMAN tumor necrosis factor receptor 1 precursor 444 Cytoplasmic (Potential). GPAA -> APP (in Ref. 5; AAA36756). apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process extracellular region|integral to plasma membrane|membrane raft tumor necrosis factor receptor activity lung(2)|skin(1) 3 ggagggcggcggggccgcAAA 0.567 NA 6 18 0 0 0 0 LRP6 4040 broad.mit.edu 37 12 12278294 12278294 + Missense_Mutation SNP C C G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:12278294C>G uc001rah.3 - 21 4527 c.4385G>C c.(4384-4386)CGA>CCA p.R1462P BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R1417P NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 1462 Cytoplasmic (Potential). cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) AACATGGGCTCGGTCATAGGG 0.443 NA 18 22 0 0 0 0 BCAT1 586 broad.mit.edu 37 12 25047338 25047338 + Silent SNP T T G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:25047338T>G uc001rgd.3 - 3 592 c.150A>C c.(148-150)GGA>GGC p.G50G BCAT1_uc001rgc.2_Silent_p.G49G|BCAT1_uc010six.1_Silent_p.G62G|BCAT1_uc010siy.1_Silent_p.G50G|BCAT1_uc001rge.3_Silent_p.G26G NM_005504 NP_005495 P54687 BCAT1_HUMAN branched chain aminotransferase 1, cytosolic 50 branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity lung(1)|breast(1) 2 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) TGAACACAGTTCCAAAAACCA 0.438 NA 5 15 0 0 0 0 ITPR2 3709 broad.mit.edu 37 12 26781079 26781079 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:26781079C>T uc001rhg.2 - 23 3368 c.2951G>A c.(2950-2952)AGA>AAA p.R984K NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 984 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity p.R984K(1) kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) ATAATCCAGTCTGACACTCAG 0.353 NA 61 119 0 0 0 0 C12orf71 728858 broad.mit.edu 37 12 27234247 27234247 + Missense_Mutation SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:27234247T>C uc001rhq.2 - 2 709 c.670A>G c.(670-672)ATC>GTC p.I224V NM_001080406 NP_001073875 A8MTZ7 CL071_HUMAN hypothetical protein LOC728858 224 0 GAGGGGAGGATACGCTGCCTC 0.552 NA 53 73 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49420108 49420108 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:49420108C>T uc001rta.3 - 48 15641 c.15641G>A c.(15640-15642)CGC>CAC p.R5214H NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5214 FYR N-terminal. R -> H (in KABS). chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CCAATAGATGCGCGTGGCCTC 0.577 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 23 30 0 0 0 0 KRT78 196374 broad.mit.edu 37 12 53237950 53237950 + Missense_Mutation SNP G G A rs145166082 TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:53237950G>A uc001sbc.1 - 6 1038 c.974C>T c.(973-975)ACG>ATG p.T325M NM_173352 NP_775487 Q8N1N4 K2C78_HUMAN keratin 5b 325 Coil 2.|Rod. keratin filament protein binding|structural molecule activity ovary(2) 2 CTGGACTTTCGTTTCCTGCAT 0.527 NA 81 96 0 0 0 0 LRP1 4035 broad.mit.edu 37 12 57604642 57604642 + Missense_Mutation SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:57604642T>C uc001snd.2 + 83 13362 c.12896T>C c.(12895-12897)CTG>CCG p.L4299P NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 4299 Extracellular (Potential).|EGF-like 19. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCCGGCTTCCTGGGCGACCGC 0.647 NA 3 36 0 0 0 0 B4GALNT1 2583 broad.mit.edu 37 12 58021951 58021951 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:58021951C>T uc001spg.1 - 9 1529 c.1097G>A c.(1096-1098)CGG>CAG p.R366Q B4GALNT1_uc010sru.1_Missense_Mutation_p.R311Q NM_001478 NP_001469 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 366 Lumenal (Potential). lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity 0 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) CCTCTCCAGCCGCGTCCGCGC 0.652 NA 24 39 0 0 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72038823 72038823 + Missense_Mutation SNP T T A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:72038823T>A uc001swo.2 - 4 1472 c.1113A>T c.(1111-1113)GAA>GAT p.E371D NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 371 Potential. RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 GAAGCTGTAATTCAGATAGTT 0.338 NA 16 22 0 0 0 0 DDX55 57696 broad.mit.edu 37 12 124104018 124104018 + Missense_Mutation SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:124104018T>C uc001ufi.2 + 13 1397 c.1373T>C c.(1372-1374)CTG>CCG p.L458P DDX55_uc001ufh.2_Nonstop_Mutation_p.*306R|DDX55_uc001ufk.2_Missense_Mutation_p.L311P|DDX55_uc001ufl.2_Missense_Mutation_p.L65P NM_020936 NP_065987 Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 458 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) TTTGCCCTGCTGAGGATGCCC 0.438 NA 49 79 0 0 0 0 GOLGA3 2802 broad.mit.edu 37 12 133384625 133384625 + Missense_Mutation SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:133384625T>C uc001ukz.1 - 5 1589 c.1030A>G c.(1030-1032)ATG>GTG p.M344V GOLGA3_uc001ula.1_Missense_Mutation_p.M344V|GOLGA3_uc001ulb.2_Missense_Mutation_p.M344V NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 344 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) CCGTTGACCATATAGGGGGTG 0.612 NA 33 38 0 0 0 0 SACS 26278 broad.mit.edu 37 13 23905802 23905802 + Silent SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr13:23905802T>C uc001uon.2 - 10 12802 c.12213A>G c.(12211-12213)GAA>GAG p.E4071E SACS_uc001uoo.2_Silent_p.E3924E|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 4071 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AAGCAAAAGTTTCACTTCTGC 0.363 NA 19 33 0 0 0 0 CDK8 1024 broad.mit.edu 37 13 26967609 26967609 + Missense_Mutation SNP A A G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr13:26967609A>G uc001uqr.1 + 7 778 c.752A>G c.(751-753)CAG>CGG p.Q251R CDK8_uc001uqs.1_Missense_Mutation_p.Q251R|CDK8_uc001uqt.1_Missense_Mutation_p.Q78R NM_001260 NP_001251 P49336 CDK8_HUMAN cyclin-dependent kinase 8 251 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|large_intestine(1)|ovary(1)|skin(1) 5 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) CACCATGACCAGCTGGACAGA 0.363 NA 73 109 0 0 0 0 FLT1 2321 broad.mit.edu 37 13 28913349 28913349 + Missense_Mutation SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr13:28913349T>C uc001usb.3 - 17 2729 c.2444A>G c.(2443-2445)TAT>TGT p.Y815C FLT1_uc001usa.3_Missense_Mutation_p.Y33C NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 815 Cytoplasmic (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GCTGGCATCATAAGGGAGCCG 0.348 NA 21 38 0 0 0 0 FRY 10129 broad.mit.edu 37 13 32798394 32798394 + Silent SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr13:32798394G>A uc001utx.2 + 37 5284 c.4788G>A c.(4786-4788)ACG>ACA p.T1596T FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1596 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CTCCCTACACGGGCTGGTTGC 0.498 NA 42 48 0 0 0 0 ZC3H13 23091 broad.mit.edu 37 13 46577305 46577305 + Missense_Mutation SNP C C G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr13:46577305C>G uc010tfw.1 - 7 919 c.913G>C c.(913-915)GAA>CAA p.E305Q ZC3H13_uc001vas.1_Missense_Mutation_p.E305Q|ZC3H13_uc001vat.1_Missense_Mutation_p.E305Q NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 305 nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) CTTTGTCGTTCAAAATCTCGT 0.313 NA 7 154 0 0 0 0 GPC5 2262 broad.mit.edu 37 13 92408604 92408604 + Nonsense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr13:92408604C>T uc010tif.1 + 5 1576 c.1210C>T c.(1210-1212)CAG>TAG p.Q404* NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 404 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TCTAGCTGATCAGCTTTGTGC 0.373 NA 27 62 0 0 0 0 COL4A1 1282 broad.mit.edu 37 13 110831315 110831315 + Missense_Mutation SNP C C T rs113994110 TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr13:110831315C>T uc001vqw.3 - 31 2535 c.2413G>A c.(2413-2415)GGA>AGA p.G805R COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 805 Triple-helical region. G -> R (in BSVDH). angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCCCTAGCTCCAGGGGGGCCT 0.547 NA 6 16 0 0 0 0 NIN 51199 broad.mit.edu 37 14 51227017 51227017 + Missense_Mutation SNP T T A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr14:51227017T>A uc001wym.2 - 17 2148 c.1957A>T c.(1957-1959)AAC>TAC p.N653Y NIN_uc001wyi.2_Missense_Mutation_p.N653Y|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.N653Y|NIN_uc010tqp.1_Missense_Mutation_p.N659Y|NIN_uc001wyo.2_Missense_Mutation_p.N653Y NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 653 Potential. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) TGCTTCATGTTCTCCTGTGCC 0.468 NA T PDGFRB MPD 82 25 0 0 0 0 PARP6 56965 broad.mit.edu 37 15 72534499 72534499 + Silent SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr15:72534499T>C uc002auc.2 - 21 2163 c.1704A>G c.(1702-1704)GAA>GAG p.E568E PARP6_uc002aua.2_Silent_p.E414E|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Silent_p.E569E NM_020214 NP_064599 Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 568 PARP catalytic. NAD+ ADP-ribosyltransferase activity 0 GCTACCTACCTTCACAAAGTG 0.473 NA 15 9 0 0 0 0 PRKCB 5579 broad.mit.edu 37 16 24196444 24196444 + Nonsense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr16:24196444C>T uc002dmd.2 + 14 1743 c.1546C>T c.(1546-1548)CAG>TAG p.Q516* PRKCB_uc002dme.2_Nonsense_Mutation_p.Q516* NM_212535 NP_997700 P05771 KPCB_HUMAN protein kinase C, beta isoform 1 516 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1) 9 Vitamin E(DB00163) AATTGCTTATCAGCCCTATGG 0.433 NA 5 84 0 0 0 0 RBBP6 5930 broad.mit.edu 37 16 24580072 24580072 + Silent SNP A A G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr16:24580072A>G uc002dmh.2 + 17 3101 c.2061A>G c.(2059-2061)AAA>AAG p.K687K RBBP6_uc010vcb.1_Silent_p.K554K|RBBP6_uc002dmi.2_Silent_p.K653K|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Silent_p.K520K NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 687 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) TTAGGTCTAAATCTCCCTATA 0.343 NA 17 37 0 0 0 0 SALL1 6299 broad.mit.edu 37 16 51171062 51171062 + Silent SNP G G C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr16:51171062G>C uc010vgs.1 - 3 3967 c.3936C>G c.(3934-3936)ACC>ACG p.T1312T SALL1_uc010vgr.1_Silent_p.T1215T|SALL1_uc010cbv.2_Silent_p.T164T NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 1312 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CCACGAAGCGGGTGAAGCGGA 0.567 NA 23 33 0 0 0 0 SALL1 6299 broad.mit.edu 37 16 51174418 51174418 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr16:51174418G>A uc010vgs.1 - 2 1746 c.1715C>T c.(1714-1716)ACG>ATG p.T572M SALL1_uc010vgr.1_Missense_Mutation_p.T475M|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 572 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGGCTCTTCCGTCTTGATGAA 0.602 NA 17 31 0 0 0 0 RLTPR 146206 broad.mit.edu 37 16 67682065 67682065 + Silent SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr16:67682065C>A uc002etn.2 + 14 1302 c.1182C>A c.(1180-1182)ACC>ACA p.T394T RLTPR_uc010cel.1_Silent_p.T394T|RLTPR_uc010vjr.1_Intron NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin 394 LRR 7. breast(1) 1 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GATGGATGACCGGCAGGGCGG 0.687 NA 10 11 3.07e-06 1.12e-05 1 0 SLC7A6OS 84138 broad.mit.edu 37 16 68336300 68336300 + Silent SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr16:68336300T>C uc002evw.1 - 4 802 c.783A>G c.(781-783)GGA>GGG p.G261G NM_032178 NP_115554 Q96CW6 S7A6O_HUMAN solute carrier family 7, member 6 opposite 261 protein transport cytoplasm|nucleus ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106) AATCCTCATCTCCATCACTGC 0.517 NA 80 100 0 0 0 0 KIAA0182 23199 broad.mit.edu 37 16 85687968 85687969 + Missense_Mutation DNP GC GC TT TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr16:85687968_85687969GC>TT uc002fix.2 + 4 585_586 c.511_512GC>TT c.(511-513)GCC>TTC p.A171F KIAA0182_uc002fiw.2_Missense_Mutation_p.A67F|KIAA0182_uc002fiy.2_Missense_Mutation_p.A98F NM_014615 NP_055430 Q14687 GSE1_HUMAN genetic suppressor element 1 isoform 1 171 protein binding large_intestine(3)|ovary(1)|skin(1) 5 AGGGGGACCAGCCATCCCCTCG 0.668 NA 8 17 0 0 0 0 POLR2A 5430 broad.mit.edu 37 17 7404147 7404147 + Missense_Mutation SNP A A G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr17:7404147A>G uc002ghf.3 + 11 2095 c.1861A>G c.(1861-1863)ATC>GTC p.I621V NM_000937 NP_000928 P24928 RPB1_HUMAN DNA-directed RNA polymerase II A 621 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding pancreas(1) 1 Prostate(122;0.173) TTACAAGCACATCTCTCCTGG 0.527 NA 31 87 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578524 7578524 + Nonsense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr17:7578524G>A uc002gim.2 - 5 600 c.406C>T c.(406-408)CAA>TAA p.Q136* TP53_uc002gig.1_Nonsense_Mutation_p.Q136*|TP53_uc002gih.2_Nonsense_Mutation_p.Q136*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q4*|TP53_uc010cng.1_Nonsense_Mutation_p.Q4*|TP53_uc002gii.1_Nonsense_Mutation_p.Q4*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q136*|TP53_uc010cni.1_Nonsense_Mutation_p.Q136*|TP53_uc002gij.2_Nonsense_Mutation_p.Q136*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.Q43*|TP53_uc002gio.2_Nonsense_Mutation_p.Q4*|TP53_uc010vug.1_Nonsense_Mutation_p.Q97* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 136 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> E (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.Q136*(28)|p.0?(7)|p.Q136H(5)|p.Q136Q(4)|p.Q136P(3)|p.Q136E(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.Q136R(2)|p.Q136fs*34(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.Q136K(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.Q136_K139delQLAK(1)|p.C135_Q136insX(1)|p.C135_Q136insXXXXXX(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) TTGGCCAGTTGGCAAAACATC 0.562 111 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) 64 7 0 0 0 0 MYH4 4622 broad.mit.edu 37 17 10364246 10364246 + Silent SNP T T A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr17:10364246T>A uc002gmn.2 - 12 1245 c.1134A>T c.(1132-1134)CCA>CCT p.P378P uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 378 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 CCGTGCCATCTGGCTCTGCCT 0.478 NA 30 69 0 0 0 0 USP22 23326 broad.mit.edu 37 17 20911270 20911270 + Missense_Mutation SNP G G C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr17:20911270G>C uc002gym.3 - 9 1347 c.1143C>G c.(1141-1143)ATC>ATG p.I381M USP22_uc002gyn.3_Missense_Mutation_p.I369M|USP22_uc002gyl.3_Missense_Mutation_p.I276M NM_015276 NP_056091 Q9UPT9 UBP22_HUMAN ubiquitin thiolesterase 22 381 cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(1) 1 CGCTGCACTTGATCTTGGCGC 0.488 NA 33 33 0 0 0 0 CCL1 6346 broad.mit.edu 37 17 32688843 32688843 + Missense_Mutation SNP T T G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr17:32688843T>G uc002hid.1 - 2 221 c.149A>C c.(148-150)TAC>TCC p.Y50S NM_002981 NP_002972 P22362 CCL1_HUMAN small inducible cytokine A1 precursor 50 cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction extracellular space chemokine activity 0 Ovarian(249;0.0443)|Breast(31;0.133) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155) GGTATTTCTGTAACACAGGAT 0.493 NA OREG0024322 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 59 110 0 0 0 0 TMEM132E 124842 broad.mit.edu 37 17 32953362 32953362 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr17:32953362G>A uc002hif.2 + 2 612 c.284G>A c.(283-285)GGG>GAG p.G95E NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 95 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) GTCTCTCTGGGGCCCTTCAGC 0.697 NA 8 24 0 0 0 0 PGAP3 93210 broad.mit.edu 37 17 37842182 37842182 + Missense_Mutation SNP T T A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr17:37842182T>A uc002hsj.2 - 2 315 c.272A>T c.(271-273)CAT>CTT p.H91L ERBB2_uc002hsm.2_5'Flank|ERBB2_uc010cwa.2_5'Flank|PGAP3_uc010cvy.2_5'Flank|PGAP3_uc010wej.1_Missense_Mutation_p.H91L|PGAP3_uc002hsk.2_Missense_Mutation_p.H91L|PGAP3_uc010cvz.2_Missense_Mutation_p.H91L|ERBB2_uc002hsl.2_5'Flank NM_033419 NP_219487 Q96FM1 PGAP3_HUMAN per1-like domain containing 1 precursor 91 Lumenal (Potential). GPI anchor biosynthetic process Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane hydrolase activity, acting on ester bonds upper_aerodigestive_tract(1) 1 CACCTTGCCATGGAACTGAGG 0.537 NA 13 17 0 0 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47243530 47243530 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr17:47243530C>T uc002ion.2 + 9 1248 c.1189C>T c.(1189-1191)CTC>TTC p.L397F B4GALNT2_uc010wlt.1_Missense_Mutation_p.L311F|B4GALNT2_uc010wlu.1_Missense_Mutation_p.L337F NM_153446 NP_703147 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 397 Lumenal (Potential). lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity large_intestine(1)|ovary(1) 2 all cancers(6;0.000316) CAAATACGTTCTCTGGGTGGA 0.468 NA 27 51 0 0 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48916922 48916922 + Silent SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr17:48916922C>A uc002isv.3 + 2 967 c.273C>A c.(271-273)GCC>GCA p.A91A WFIKKN2_uc010dbu.2_5'UTR NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN WFIKKN2 protein 91 WAP. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) GCGTGGCGGCCCGCTACATGG 0.582 NA 14 21 1.5e-05 5.44e-05 1 0 KIF2B 84643 broad.mit.edu 37 17 51901863 51901863 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr17:51901863C>A uc002iua.2 + 1 1625 c.1469C>A c.(1468-1470)CCT>CAT p.P490H uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 490 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 CAGAACAAGCCTCACACCCCA 0.527 NA 15 27 2.32e-05 8.38e-05 1 0 EMILIN2 84034 broad.mit.edu 37 18 2891658 2891658 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr18:2891658C>A uc002kln.2 + 4 1692 c.1533C>A c.(1531-1533)AAC>AAA p.N511K NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor 511 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) TGACCAATAACACTGGTGCAG 0.527 NA 36 52 2.04e-09 7.7e-09 1 0 MYL12B 103910 broad.mit.edu 37 18 3273065 3273065 + Missense_Mutation SNP A A G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr18:3273065A>G uc010dkl.2 + 2 328 c.169A>G c.(169-171)ATG>GTG p.M57V MYL12B_uc002klt.3_Missense_Mutation_p.M35V|MYL12B_uc010wyv.1_Missense_Mutation_p.M57V NM_001144944 NP_001138416 O14950 ML12B_HUMAN myosin regulatory light chain MRCL2 isoform A 57 EF-hand 1. axon guidance|muscle contraction cytosol|myosin complex calcium ion binding 0 TTTGCATGATATGCTTGCTTC 0.343 NA 98 24 0 0 0 0 LAMA1 284217 broad.mit.edu 37 18 6976021 6976021 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr18:6976021G>A uc002knm.2 - 45 6498 c.6404C>T c.(6403-6405)TCC>TTC p.S2135F LAMA1_uc010wzj.1_Missense_Mutation_p.S1611F NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2135 Laminin G-like 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTTGGTAGAGGAAATCTGAGG 0.453 NA 5 54 0 0 0 0 POTEC 388468 broad.mit.edu 37 18 14543019 14543019 + Missense_Mutation SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr18:14543019T>C uc010dln.2 - 1 581 c.127A>G c.(127-129)ATG>GTG p.M43V POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 43 skin(3) 3 GAAGTGCCCATGTTGCTCTTG 0.587 NA 4 149 0 0 0 0 SLC14A2 8170 broad.mit.edu 37 18 43224005 43224005 + Missense_Mutation SNP C C T rs139770269 TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr18:43224005C>T uc010dnj.2 + 11 1552 c.1231C>T c.(1231-1233)CTC>TTC p.L411F SLC14A2_uc002lbb.2_Missense_Mutation_p.L411F|SLC14A2_uc002lbe.2_Missense_Mutation_p.L411F NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 411 Helical; (Potential). apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 CATCTTCCTGCTCCTGACGAC 0.547 NA 73 103 0 0 0 0 MYO5B 4645 broad.mit.edu 37 18 47390534 47390534 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr18:47390534G>A uc002leb.2 - 28 4108 c.3820C>T c.(3820-3822)CGG>TGG p.R1274W MYO5B_uc002lea.2_Missense_Mutation_p.R415W NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 1274 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) GCGAGTCGCCGCTGGTCGGCG 0.617 NA 23 31 0 0 0 0 MEX3D 399664 broad.mit.edu 37 19 1556345 1556345 + Silent SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:1556345G>A uc010dsn.2 - 2 1173 c.1173C>T c.(1171-1173)CGC>CGT p.R391R NM_203304 NP_976049 Q86XN8 MEX3D_HUMAN ring finger and KH domain containing 1 391 mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis nucleus|perinuclear region of cytoplasm AU-rich element binding|zinc ion binding lung(1) 1 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) 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) CCGTGTCCCCGCGGAGGCCGG 0.801 NA 8 7 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 8993495 8993495 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:8993495C>T uc002mkp.2 - 66 41798 c.41594G>A c.(41593-41595)CGC>CAC p.R13865H MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.R682H|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13868 Extracellular (Potential).|SEA 12. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGGGTCAGGGCGGTGGGTGCA 0.592 NA 47 39 0 0 0 0 ZNF559 84527 broad.mit.edu 37 19 9452988 9452988 + Missense_Mutation SNP T T G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:9452988T>G uc002mlg.2 + 7 1508 c.861T>G c.(859-861)CAT>CAG p.H287Q ZNF559_uc002mlf.2_Missense_Mutation_p.H56Q|ZNF559_uc010dwl.1_Missense_Mutation_p.H56Q|ZNF559_uc010xkn.1_Missense_Mutation_p.H279Q|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Missense_Mutation_p.H351Q|ZNF559_uc010dwk.1_Missense_Mutation_p.H56Q|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron NM_032497 NP_115886 Q9BR84 ZN559_HUMAN zinc finger protein 559 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTGCTAAACATATAAGACTTA 0.333 NA 37 62 0 0 0 0 QTRT1 81890 broad.mit.edu 37 19 10823850 10823850 + Silent SNP C C T rs139740339 byFrequency TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:10823850C>T uc002mpr.2 + 10 1141 c.1116C>T c.(1114-1116)TTC>TTT p.F372F DNM2_uc010dxk.2_RNA NM_031209 NP_112486 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 372 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity skin(1) 1 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) TCCCGGACTTCGTGCGGGACT 0.657 NA 38 48 0 0 0 0 CYP4F8 11283 broad.mit.edu 37 19 15733053 15733053 + Missense_Mutation SNP G G C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:15733053G>C uc002nbi.2 + 8 614 c.550G>C c.(550-552)GAG>CAG p.E184Q CYP4F8_uc010xoj.1_Intron NM_007253 NP_009184 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, 184 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding large_intestine(1) 1 CCTGGCCATGGAGGGCAGCAC 0.587 NA 16 27 0 0 0 0 MYO9B 4650 broad.mit.edu 37 19 17309083 17309083 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:17309083G>A uc010eak.2 + 24 4356 c.4204G>A c.(4204-4206)GCA>ACA p.A1402T MYO9B_uc002nfi.2_Missense_Mutation_p.A1402T|MYO9B_uc002nfj.1_Missense_Mutation_p.A1402T|MYO9B_uc002nfl.1_5'UTR NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 1402 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 CCTCCCAGACGCAGGGCTGTC 0.627 NA 17 37 0 0 0 0 UNC13A 23025 broad.mit.edu 37 19 17763482 17763482 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:17763482C>A uc002nhd.2 - 13 1661 c.1661G>T c.(1660-1662)CGG>CTG p.R554L NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 466 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 TCCTTCTCCCCGGGCCTGCAG 0.532 NA 101 198 1.44e-54 5.78e-54 1 0 ZNF493 284443 broad.mit.edu 37 19 21606219 21606219 + Missense_Mutation SNP C C G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:21606219C>G uc002npx.2 + 2 654 c.374C>G c.(373-375)ACT>AGT p.T125S ZNF493_uc002npw.2_Missense_Mutation_p.T253S|ZNF493_uc002npy.2_Missense_Mutation_p.T125S NM_175910 NP_787106 Q6ZR52 ZN493_HUMAN zinc finger protein 493 isoform 1 125 C2H2-type 4; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TCAAACCTTACTACACATAAG 0.373 NA 13 36 0 0 0 0 ZNF675 171392 broad.mit.edu 37 19 23837318 23837318 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:23837318C>A uc002nri.2 - 4 599 c.417G>T c.(415-417)ATG>ATT p.M139I NM_138330 NP_612203 Q8TD23 ZN675_HUMAN zinc finger protein 675 139 bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(1)|kidney(1) 2 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TTTTGCTCTGCATAGTTGGTA 0.299 NA 28 31 6.33e-13 2.42e-12 1 0 SUPT5H 6829 broad.mit.edu 37 19 39964118 39964118 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:39964118C>A uc002olo.3 + 25 2628 c.2449C>A c.(2449-2451)CAG>AAG p.Q817K SUPT5H_uc002olp.3_Missense_Mutation_p.Q817K|SUPT5H_uc002olq.3_Missense_Mutation_p.Q813K|SUPT5H_uc002oln.3_Missense_Mutation_p.Q817K|SUPT5H_uc002olr.3_Missense_Mutation_p.Q817K|SUPT5H_uc002ols.1_Missense_Mutation_p.Q440K|SUPT5H_uc010egp.1_3'UTR NM_001111020 NP_001104490 O00267 SPT5H_HUMAN suppressor of Ty 5 homolog isoform a 817 CTR1-9.|9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity ovary(3)|pancreas(1) 4 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CACTCCTGCCCAGAGTGGGGC 0.622 NA 29 14 7.26e-15 2.81e-14 1 0 CADM4 199731 broad.mit.edu 37 19 44127586 44127586 + Missense_Mutation SNP A A T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:44127586A>T uc002oxc.1 - 9 1112 c.1063T>A c.(1063-1065)TAT>AAT p.Y355N NM_145296 NP_660339 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 precursor 355 Cytoplasmic (Potential). cell adhesion integral to membrane 0 Prostate(69;0.0199) TGGGTCAGATAGGAACCTGAG 0.483 NA 82 20 0 0 0 0 ZC3H4 23211 broad.mit.edu 37 19 47584783 47584783 + Missense_Mutation SNP T T A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:47584783T>A uc002pga.3 - 11 1465 c.1427A>T c.(1426-1428)GAG>GTG p.E476V ZC3H4_uc002pgb.1_Intron NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 476 nucleic acid binding|zinc ion binding skin(4)|ovary(2) 6 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) ATCCAAGAGCTCCCTCGTCTC 0.577 NA 22 12 0 0 0 0 CD33 945 broad.mit.edu 37 19 51728579 51728579 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:51728579C>T uc002pwa.2 + 2 183 c.143C>T c.(142-144)CCC>CTC p.P48L CD33_uc010eos.1_Missense_Mutation_p.P48L|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank NM_001772 NP_001763 P20138 CD33_HUMAN CD33 antigen isoform 1 precursor 48 Extracellular (Potential).|Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding 0 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) CATCCCATACCCTACTACGAC 0.517 NA 11 66 0 0 0 0 ZNF677 342926 broad.mit.edu 37 19 53740901 53740901 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:53740901G>A uc002qbf.1 - 5 1264 c.1079C>T c.(1078-1080)TCA>TTA p.S360L ZNF677_uc002qbg.1_Missense_Mutation_p.S360L NM_182609 NP_872415 Q86XU0 ZN677_HUMAN zinc finger protein 677 360 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00352) CCAAAGGTGTGAACGCTGGAT 0.393 NA 38 13 0 0 0 0 ATAD2B 54454 broad.mit.edu 37 2 24056880 24056881 + Missense_Mutation DNP CC CC AG TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr2:24056880_24056881CC>AG uc002rek.3 - 14 1930_1931 c.1636_1637GG>CT c.(1636-1638)GGT>CTT p.G546L ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rej.3_5'Flank NM_017552 NP_060022 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 546 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTTTGTAGCACCAATAACAACA 0.381 NA 13 24 0 0 0 0 REG3A 5068 broad.mit.edu 37 2 79385863 79385863 + Silent SNP G G T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr2:79385863G>T uc002sod.1 - 2 364 c.109C>A c.(109-111)CGG>AGG p.R37R REG3A_uc002soe.1_Silent_p.R37R|REG3A_uc002sof.1_Silent_p.R37R NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 37 acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 CAGCGGATCCGTGCAGAGGGC 0.552 NA 14 28 1.5e-05 5.44e-05 1 0 SLC9A2 6549 broad.mit.edu 37 2 103274384 103274384 + Silent SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr2:103274384C>A uc002tca.2 + 2 793 c.651C>A c.(649-651)GTC>GTA p.V217V NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN solute carrier family 9 (sodium/hydrogen 217 Helical; Name=F/M5A; (Potential). integral to membrane|plasma membrane sodium:hydrogen antiporter activity central_nervous_system(3)|skin(3)|breast(2) 8 TCTCAGCTGTCGATCCTGTGG 0.498 NA 108 148 3.11e-38 1.24e-37 1 0 SAP130 79595 broad.mit.edu 37 2 128747419 128747419 + Missense_Mutation SNP G G C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr2:128747419G>C uc002tpp.2 - 13 1709 c.1577C>G c.(1576-1578)TCT>TGT p.S526C SAP130_uc002tpn.2_Missense_Mutation_p.S287C|SAP130_uc002tpo.2_Missense_Mutation_p.S271C|SAP130_uc010fmd.2_Missense_Mutation_p.S526C|SAP130_uc002tpq.1_Missense_Mutation_p.S499C NM_024545 NP_078821 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa isoform b 526 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(2)|skin(2) 4 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) TGTGATGGCAGAGTTTGGAGC 0.443 NA 19 29 0 0 0 0 NEB 4703 broad.mit.edu 37 2 152534129 152534129 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr2:152534129C>A uc010fnx.2 - 34 3915 c.3724G>T c.(3724-3726)GAC>TAC p.D1242Y NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 1242 Nebulin 31. 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) ACTGGGGAGTCCACAATGCTG 0.443 NA 35 74 3.9e-15 1.51e-14 1 0 XIRP2 129446 broad.mit.edu 37 2 168103945 168103945 + Missense_Mutation SNP G G C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr2:168103945G>C uc002udx.2 + 8 6061 c.6043G>C c.(6043-6045)GAG>CAG p.E2015Q XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E1840Q|XIRP2_uc010fpq.2_Missense_Mutation_p.E1793Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1840 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AGAAAGAACTGAGGTTAATCT 0.438 NA 24 30 0 0 0 0 G6PC2 57818 broad.mit.edu 37 2 169764494 169764494 + Missense_Mutation SNP T T A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr2:169764494T>A uc002uem.2 + 5 1065 c.973T>A c.(973-975)TTT>ATT p.F325I G6PC2_uc002uen.2_3'UTR|G6PC2_uc010fpv.2_Missense_Mutation_p.F209I NM_021176 NP_066999 Q9NQR9 G6PC2_HUMAN islet-specific glucose-6-phosphatase-related 325 Helical; (Potential). gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity pancreas(1) 1 TGTGCTGTCTTTTTGTAAAAG 0.433 NA 23 138 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179443989 179443989 + Missense_Mutation SNP G G T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr2:179443989G>T uc010zfg.1 - 269 60288 c.60064C>A c.(60064-60066)CCT>ACT p.P20022T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P13717T|TTN_uc010zfi.1_Missense_Mutation_p.P13650T|TTN_uc010zfj.1_Missense_Mutation_p.P13525T|uc002umv.1_Missense_Mutation_p.G72V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20949 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) GTTGCTAGAGGATCTTCCCCT 0.433 NA 39 63 1.59e-26 6.26e-26 1 0 TTN 7273 broad.mit.edu 37 2 179452482 179452482 + Missense_Mutation SNP A A G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr2:179452482A>G uc010zfg.1 - 255 56074 c.55850T>C c.(55849-55851)ATA>ACA p.I18617T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I12312T|TTN_uc010zfi.1_Missense_Mutation_p.I12245T|TTN_uc010zfj.1_Missense_Mutation_p.I12120T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19544 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) TGCTCTCACTATGACCAGTTT 0.433 NA 24 41 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179604933 179604933 + Missense_Mutation SNP C C G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr2:179604933C>G uc010zfh.1 - 46 12738 c.12514G>C c.(12514-12516)GAA>CAA p.E4172Q TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E4105Q|TTN_uc010zfj.1_Missense_Mutation_p.E3980Q|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 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) GAATGCTCTTCTTTGAGCAGT 0.473 NA 52 72 0 0 0 0 ITGAV 3685 broad.mit.edu 37 2 187506311 187506311 + Silent SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr2:187506311C>T uc002upq.2 + 12 1431 c.1155C>T c.(1153-1155)TTC>TTT p.F385F ITGAV_uc010frs.2_Silent_p.F349F|ITGAV_uc010zfv.1_Silent_p.F339F NM_002210 NP_002201 P06756 ITAV_HUMAN integrin alpha-V isoform 1 precursor 385 FG-GAP 6.|Potential.|Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) AGGATGGTTTCAATGGTAAGA 0.463 NA 59 77 0 0 0 0 TTLL4 9654 broad.mit.edu 37 2 219612322 219612322 + Missense_Mutation SNP A A G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr2:219612322A>G uc002viy.2 + 11 2622 c.2252A>G c.(2251-2253)TAT>TGT p.Y751C TTLL4_uc010zkl.1_Missense_Mutation_p.Y586C|TTLL4_uc010fvx.2_Missense_Mutation_p.Y687C|TTLL4_uc010zkm.1_5'UTR NM_014640 NP_055455 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 751 TTL. protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity ovary(2)|skin(1) 3 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) CTATGTAGGTATCTACACAAA 0.478 NA 54 23 0 0 0 0 PLCB4 5332 broad.mit.edu 37 20 9353027 9353027 + Missense_Mutation SNP T T A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr20:9353027T>A uc002wnf.2 + 10 799 c.663T>A c.(661-663)GAT>GAA p.D221E PLCB4_uc010gbw.1_Missense_Mutation_p.D221E|PLCB4_uc010gbx.2_Missense_Mutation_p.D221E|PLCB4_uc002wne.2_Missense_Mutation_p.D221E|PLCB4_uc002wnh.2_Missense_Mutation_p.D68E NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 221 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 CTCGGACAGATATAGAAGATC 0.308 NA 14 36 0 0 0 0 NAA20 51126 broad.mit.edu 37 20 20013295 20013295 + Missense_Mutation SNP A A G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr20:20013295A>G uc002wrp.2 + 5 553 c.449A>G c.(448-450)TAT>TGT p.Y150C NAA20_uc002wrq.2_Intron|NAA20_uc002wrr.2_Missense_Mutation_p.Y138C NM_016100 NP_057184 P61599 NAA20_HUMAN N-acetyltransferase 5 isoform a 150 N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity 0 GAGGACGCTTATGGTAAGCTC 0.408 NA 25 31 0 0 0 0 CD93 22918 broad.mit.edu 37 20 23065386 23065386 + Missense_Mutation SNP C C T rs142122866 TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr20:23065386C>T uc002wsv.2 - 1 1592 c.1444G>A c.(1444-1446)GAT>AAT p.D482N NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN CD93 antigen precursor 482 Extracellular (Potential). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding large_intestine(2) 2 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) TCCTCCTCATCGGGGGGCCCA 0.657 NA 35 40 0 0 0 0 NINL 22981 broad.mit.edu 37 20 25485703 25485703 + Missense_Mutation SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr20:25485703T>C uc002wux.1 - 6 603 c.529A>G c.(529-531)ACC>GCC p.T177A NINL_uc010gdn.1_Missense_Mutation_p.T177A|NINL_uc010gdo.1_Missense_Mutation_p.T17A|NINL_uc010ztf.1_Missense_Mutation_p.T193A NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 177 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 GAATCCCAGGTCTGCAGCTGT 0.443 NA 4 9 0 0 0 0 PHACTR3 116154 broad.mit.edu 37 20 58342414 58342414 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr20:58342414C>T uc002yau.2 + 5 1182 c.715C>T c.(715-717)CCC>TCC p.P239S PHACTR3_uc002yat.2_Missense_Mutation_p.P236S|PHACTR3_uc010zzw.1_Missense_Mutation_p.P198S|PHACTR3_uc002yav.2_Missense_Mutation_p.P198S|PHACTR3_uc002yaw.2_Missense_Mutation_p.P198S|PHACTR3_uc002yax.2_Intron NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 239 Pro-rich. nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) CACTCCGCCACCCAAGGCAAG 0.537 NA 21 24 0 0 0 0 NCAM2 4685 broad.mit.edu 37 21 22849748 22849748 + Missense_Mutation SNP C C G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr21:22849748C>G uc002yld.1 + 15 2282 c.2033C>G c.(2032-2034)ACA>AGA p.T678R NCAM2_uc011acb.1_Missense_Mutation_p.T536R NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 678 Fibronectin type-III 2.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TCTGAACCGACAGTTTATGAA 0.368 NA 16 14 0 0 0 0 GART 2618 broad.mit.edu 37 21 34877966 34877966 + Missense_Mutation SNP C C G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr21:34877966C>G uc002yrx.2 - 20 2762 c.2627G>C c.(2626-2628)AGT>ACT p.S876T GART_uc002yrz.2_Missense_Mutation_p.S876T|GART_uc010gmd.2_Missense_Mutation_p.S538T|GART_uc002yry.2_Missense_Mutation_p.S876T NM_000819 NP_000810 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, 876 GART. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding ovary(1) 1 Pemetrexed(DB00642) GTCAATTGCACTGTCAAATTC 0.338 NA 22 6 0 0 0 0 PI4KA 5297 broad.mit.edu 37 22 21178651 21178651 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr22:21178651G>A uc002zsz.3 - 4 476 c.245C>T c.(244-246)TCT>TTT p.S82F PI4KA_uc010gsq.1_Missense_Mutation_p.S140F NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 82 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1) 4 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GGCCACATCAGACAGCAGAGT 0.443 NA 18 33 0 0 0 0 GRM2 2912 broad.mit.edu 37 3 51743449 51743449 + Silent SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr3:51743449G>A uc010hlv.2 + 2 689 c.450G>A c.(448-450)CAG>CAA p.Q150Q GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 150 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) TCTCCATCCAGGTACGTGGAA 0.582 NA 6 4 0 0 0 0 IMPG2 50939 broad.mit.edu 37 3 100963028 100963028 + Nonsense_Mutation SNP G G C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr3:100963028G>C uc003duq.1 - 13 2350 c.2147C>G c.(2146-2148)TCA>TGA p.S716* IMPG2_uc011bhe.1_Nonsense_Mutation_p.S579* NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 716 Extracellular (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 TTTGGTAACTGAGTAATCATC 0.473 NA 14 7 0 0 0 0 KIAA1407 57577 broad.mit.edu 37 3 113721347 113721347 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr3:113721347G>A uc003eax.2 - 12 2164 c.2017C>T c.(2017-2019)CGG>TGG p.R673W KIAA1407_uc011bin.1_RNA NM_020817 NP_065868 Q8NCU4 K1407_HUMAN hypothetical protein LOC57577 673 Potential. ovary(2) 2 GCCAAGATCCGCCTACATTCA 0.328 NA 38 8 0 0 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133666147 133666147 + Missense_Mutation SNP G G C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr3:133666147G>C uc003eqa.3 - 9 1522 c.1248C>G c.(1246-1248)TTC>TTG p.F416L SLCO2A1_uc003eqb.3_Missense_Mutation_p.F340L|SLCO2A1_uc011blv.1_Missense_Mutation_p.F235L NM_005630 NP_005621 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, 416 Extracellular (Potential). sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding central_nervous_system(1) 1 ATCCCATGAAGAACAAAGGAA 0.493 NA 36 55 0 0 0 0 ACPL2 92370 broad.mit.edu 37 3 140998227 140998227 + Silent SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr3:140998227C>T uc003etu.2 + 6 545 c.246C>T c.(244-246)GCC>GCT p.A82A ACPL2_uc003etv.2_Silent_p.A82A|ACPL2_uc011bna.1_Silent_p.A44A|ACPL2_uc011bnb.1_Silent_p.A65A NM_152282 NP_689495 Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 precursor 82 extracellular region acid phosphatase activity skin(1) 1 CAGGTCATGCCCCGCATCATT 0.498 NA OREG0015847 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 145 28 0 0 0 0 ECE2 9718 broad.mit.edu 37 3 183995809 183995809 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr3:183995809C>A uc003fni.3 + 5 967 c.929C>A c.(928-930)GCC>GAC p.A310D ECE2_uc011brg.1_Missense_Mutation_p.A238D|ECE2_uc011brh.1_Missense_Mutation_p.A163D|ECE2_uc003fnl.3_Missense_Mutation_p.A238D|ECE2_uc003fnm.3_Missense_Mutation_p.A192D|ECE2_uc003fnk.3_Missense_Mutation_p.A163D|ECE2_uc011bri.1_Missense_Mutation_p.A225D|ECE2_uc010hxv.2_5'UTR NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 310 Lumenal (Potential).|Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GAGCTGGGAGCCCAGCCACTG 0.577 NA 120 13 1.37e-49 5.49e-49 1 0 C4orf35 85438 broad.mit.edu 37 4 71201610 71201610 + Missense_Mutation SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr4:71201610T>C uc003hff.2 + 1 940 c.854T>C c.(853-855)CTG>CCG p.L285P NM_033122 NP_149113 Q96KC9 CABS1_HUMAN testis development protein NYD-SP26 285 flagellum calcium ion binding 0 all_hematologic(202;0.196) GAAGATACTCTGCTAACTGAT 0.418 NA 19 12 0 0 0 0 TIFA 92610 broad.mit.edu 37 4 113199415 113199415 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr4:113199415G>A uc003ial.2 - 2 440 c.158C>T c.(157-159)TCC>TTC p.S53F NM_052864 NP_443096 Q96CG3 TIFA_HUMAN TRAF-interacting protein with a 53 FHA. protein binding breast(1) 1 Ovarian(17;0.0443)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00172) ACAGATGTTGGAATTTCGGCC 0.403 NA 41 24 0 0 0 0 ADCY2 108 broad.mit.edu 37 5 7789843 7789843 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr5:7789843G>A uc003jdz.1 + 20 2625 c.2558G>A c.(2557-2559)CGC>CAC p.R853H ADCY2_uc011cmo.1_Missense_Mutation_p.R673H|ADCY2_uc010itm.1_Missense_Mutation_p.R49H NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 853 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 AACCTGAACCGCGTGCTGCTG 0.532 NA 35 77 0 0 0 0 PRDM9 56979 broad.mit.edu 37 5 23526620 23526620 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr5:23526620G>A uc003jgo.2 + 11 1605 c.1423G>A c.(1423-1425)GCC>ACC p.A475T NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 475 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 GATTTCAAGGGCCTTTTCTAG 0.453 NA HNSCC(3;0.000094) 10 23 0 0 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140812032 140812032 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr5:140812032C>T uc003lkt.1 + 1 1875 c.1706C>T c.(1705-1707)ACG>ATG p.T569M PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.T569M NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 569 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCTCCCCACGGACGGTTCC 0.677 NA 91 42 0 0 0 0 SLIT3 6586 broad.mit.edu 37 5 168112761 168112761 + Silent SNP G G A rs148625020 TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr5:168112761G>A uc003mab.2 - 31 3906 c.3486C>T c.(3484-3486)TTC>TTT p.F1162F SLIT3_uc010jjg.2_Silent_p.F1169F NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 1162 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTTTGCCCACGAAGTTGACAG 0.657 NA 24 14 0 0 0 0 RNF39 80352 broad.mit.edu 37 6 30043353 30043353 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr6:30043353G>A uc003npe.2 - 1 276 c.214C>T c.(214-216)CCC>TCC p.P72S RNF39_uc003npd.2_Missense_Mutation_p.P72S NM_025236 NP_079512 Q9H2S5 RNF39_HUMAN ring finger protein 39 isoform 1 72 cytoplasm zinc ion binding 0 CCCAGCTCGGGCGCATCCATG 0.711 NA 10 7 0 0 0 0 ROS1 6098 broad.mit.edu 37 6 117658469 117658469 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr6:117658469G>A uc003pxp.1 - 31 5313 c.5114C>T c.(5113-5115)TCA>TTA p.S1705L ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 1705 Fibronectin type-III 8.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TTGGCTGCATGAAGTTTTAAC 0.308 NA T GOPC|ROS1 glioblastoma|NSCLC 30 35 0 0 0 0 SERINC1 57515 broad.mit.edu 37 6 122766322 122766322 + Missense_Mutation SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr6:122766322T>C uc003pyy.1 - 10 1299 c.1229A>G c.(1228-1230)TAT>TGT p.Y410C SERINC1_uc003pyx.1_RNA NM_020755 NP_065806 Q9NRX5 SERC1_HUMAN serine incorporator 1 410 Lumenal (Potential). phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane L-serine transmembrane transporter activity|protein binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.126) AGAGGGTTCATACCTAAAATT 0.428 NA 17 15 0 0 0 0 LAMA2 3908 broad.mit.edu 37 6 129826387 129826387 + Missense_Mutation SNP G G C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr6:129826387G>C uc003qbn.2 + 60 8695 c.8590G>C c.(8590-8592)GAT>CAT p.D2864H LAMA2_uc003qbo.2_Missense_Mutation_p.D2860H|uc003qbq.2_Intron NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 2864 Laminin G-like 4. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TCTTTATGTAGATGGGGCTTC 0.413 NA 34 35 0 0 0 0 SAMD3 154075 broad.mit.edu 37 6 130505272 130505272 + Silent SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr6:130505272G>A uc003qbv.2 - 8 956 c.630C>T c.(628-630)TTC>TTT p.F210F SAMD3_uc003qbx.2_Silent_p.F210F|SAMD3_uc003qbw.2_Silent_p.F210F|SAMD3_uc010kfg.1_Silent_p.F210F|SAMD3_uc003qby.2_Silent_p.F210F|SAMD3_uc003qbz.1_Silent_p.F169F NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 isoform 210 ovary(1) 1 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) CCTCATCCAGGAAAGGGTGGG 0.468 NA 26 34 0 0 0 0 BCLAF1 9774 broad.mit.edu 37 6 136582515 136582515 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr6:136582515C>A uc003qgx.1 - 12 2898 c.2645G>T c.(2644-2646)GGT>GTT p.G882V BCLAF1_uc011edb.1_Missense_Mutation_p.G161V|BCLAF1_uc003qgw.1_Missense_Mutation_p.G709V|BCLAF1_uc003qgy.1_Missense_Mutation_p.G831V|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.G880V NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 882 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AGGACTGCTACCTGATTTTTT 0.438 NA 55 245 3.46e-24 1.36e-23 1 0 TCP10 6953 broad.mit.edu 37 6 167790110 167790110 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr6:167790110C>A uc003qvv.1 - 5 712 c.500G>T c.(499-501)CGT>CTT p.R167L TCP10_uc003qvu.2_Missense_Mutation_p.R167L|TCP10_uc003qvw.2_Missense_Mutation_p.R143L NM_004610 NP_004601 Q12799 TCP10_HUMAN t-complex 10 194 cytosol breast(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) TCTGTCTTGACGTCTCCCGGG 0.507 NA 26 6 9.04e-19 3.53e-18 1 0 TMEM195 392636 broad.mit.edu 37 7 15599809 15599809 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr7:15599809C>A uc003stb.1 - 2 384 c.214G>T c.(214-216)GCT>TCT p.A72S NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 72 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 GACGTTAAAGCATCATCCAGG 0.443 NA 85 68 4.46e-32 1.77e-31 1 0 ZNF716 441234 broad.mit.edu 37 7 57529191 57529191 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr7:57529191C>T uc011kdi.1 + 4 1136 c.1024C>T c.(1024-1026)CAT>TAT p.H342Y NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 CCTTAAGAAACATAAGATAGT 0.388 NA 30 16 0 0 0 0 POM121 9883 broad.mit.edu 37 7 72413673 72413673 + Silent SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr7:72413673C>T uc003twk.2 + 11 3141 c.3141C>T c.(3139-3141)TTC>TTT p.F1047F POM121_uc003twj.2_Silent_p.F782F|POM121_uc010lam.1_Silent_p.F782F NM_172020 NP_742017 Q96HA1 P121A_HUMAN nuclear pore membrane protein 121 1047 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore 0 Lung NSC(55;0.163) CTTCGGCCTTCGGCGCTCCCG 0.647 NA 7 199 0 0 0 0 GRM3 2913 broad.mit.edu 37 7 86493648 86493648 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr7:86493648G>A uc003uid.2 + 6 3716 c.2617G>A c.(2617-2619)GAC>AAC p.D873N GRM3_uc010lef.2_Missense_Mutation_p.R515Q|GRM3_uc010leg.2_Missense_Mutation_p.D745N|GRM3_uc010leh.2_Missense_Mutation_p.D465N NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 873 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GGAAGTCCTCGACTCCACCAC 0.448 NA 73 122 0 0 0 0 STEAP4 79689 broad.mit.edu 37 7 87910251 87910251 + Nonsense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr7:87910251C>T uc003ujs.2 - 4 1233 c.1128G>A c.(1126-1128)TGG>TGA p.W376* STEAP4_uc010lek.2_Nonsense_Mutation_p.W200* NM_024636 NP_078912 Q687X5 STEA4_HUMAN tumor necrosis factor, alpha-induced protein 9 376 Ferric oxidoreductase. fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 Esophageal squamous(14;0.00802) GGAACTCTCTCCAGTTGACTG 0.378 NA 45 110 0 0 0 0 ZNF394 84124 broad.mit.edu 37 7 99097557 99097557 + Missense_Mutation SNP G G T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr7:99097557G>T uc003uqs.2 - 1 321 c.160C>A c.(160-162)CCC>ACC p.P54T ZNF394_uc003uqt.2_5'UTR|ZNF394_uc003uqu.1_Missense_Mutation_p.P54T NM_032164 NP_115540 Q53GI3 ZN394_HUMAN zinc finger protein 394 54 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GAAGCCGCGGGATAGTTGGGC 0.642 NA 43 50 1.15e-24 4.53e-24 1 0 LAMB4 22798 broad.mit.edu 37 7 107696109 107696109 + Missense_Mutation SNP G G C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr7:107696109G>C uc010ljo.1 - 25 3807 c.3723C>G c.(3721-3723)TTC>TTG p.F1241L LAMB4_uc003vey.2_Missense_Mutation_p.F1241L|LAMB4_uc010ljp.1_Missense_Mutation_p.F210L NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 1241 Domain II. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 TGACTTTTAAGAATTTCCCAG 0.413 NA 49 101 0 0 0 0 DOCK4 9732 broad.mit.edu 37 7 111540505 111540505 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr7:111540505C>T uc003vfx.2 - 15 1674 c.1405G>A c.(1405-1407)GAA>AAA p.E469K DOCK4_uc003vfy.2_Missense_Mutation_p.E469K|DOCK4_uc003vga.1_Missense_Mutation_p.E74K NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 469 DHR-1. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) TTCAGCAGTTCAGACCACCTG 0.498 NA 14 15 0 0 0 0 TFEC 22797 broad.mit.edu 37 7 115624462 115624462 + Missense_Mutation SNP G G C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr7:115624462G>C uc003vhj.1 - 2 218 c.34C>G c.(34-36)CTT>GTT p.L12V TFEC_uc003vhk.1_Missense_Mutation_p.L12V|TFEC_uc003vhl.3_Missense_Mutation_p.L12V|TFEC_uc011kmw.1_Missense_Mutation_p.L102V NM_012252 NP_036384 O14948 TFEC_HUMAN transcription factor EC isoform a 12 Necessary for transcriptional transactivation. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity large_intestine(1) 1 STAD - Stomach adenocarcinoma(10;0.00878) GACCATTTAAGAGTTGGATTG 0.493 NA 54 108 0 0 0 0 TUSC3 7991 broad.mit.edu 37 8 15601046 15601046 + Splice_Site SNP G G T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr8:15601046G>T uc003wwt.2 + 8 1073 c.863_splice c.e8-1 p.N288_splice TUSC3_uc003wwu.2_Splice_Site_p.N288_splice|TUSC3_uc003wwv.2_Splice_Site_p.N288_splice|TUSC3_uc003www.2_Splice_Site_p.N288_splice|TUSC3_uc003wwx.2_Splice_Site|TUSC3_uc003wwy.2_Splice_Site_p.M267_splice NM_006765 NP_006756 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 isoform a cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex ovary(2)|central_nervous_system(1) 3 Colorectal(111;0.113) AACTACTGCAGATGCCGCTAT 0.403 NA 23 137 5.35e-11 2.04e-10 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110457673 110457673 + Missense_Mutation SNP G G T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr8:110457673G>T uc003yne.2 + 38 5679 c.5575G>T c.(5575-5577)GGC>TGC p.G1859C NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1859 Extracellular (Potential).|IPT/TIG 11. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CTTCTATCCAGGCAACACTAC 0.502 NA HNSCC(38;0.096) 39 7 6.97e-18 2.72e-17 1 0 FAM84B 157638 broad.mit.edu 37 8 127569333 127569333 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr8:127569333G>A uc003yrz.1 - 2 586 c.302C>T c.(301-303)TCG>TTG p.S101L NM_174911 NP_777571 Q96KN1 FA84B_HUMAN family with sequence similarity 84, member B 101 cytoplasm|plasma membrane protein binding 0 Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135) STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723) CAGCGCCGCCGAGCCCGGCGC 0.657 NA 31 17 0 0 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971098 21971098 + Missense_Mutation SNP C C G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr9:21971098C>G uc003zpk.2 - 2 472 c.260G>C c.(259-261)CGG>CCG p.R87P MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.P142P NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 87 ANK 3. R -> P (in CMM2; impairs the function).|R -> W (in CMM2; partial loss of CDK4 binding). 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.?(13)|p.H83fs*2(2)|p.D84_F90del(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.R87W(1)|p.R87L(1)|p.E61_L94del(1)|p.R87Q(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.R87fs(1)|p.E87K(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) GAAGCCCTCCCGGGCAGCGTC 0.751 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) 6 3 0 0 0 0 KIAA1161 57462 broad.mit.edu 37 9 34371549 34371549 + Missense_Mutation SNP C C G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr9:34371549C>G uc003zue.3 - 3 1560 c.1393G>C c.(1393-1395)GGC>CGC p.G465R NM_020702 NP_065753 Q6NSJ0 K1161_HUMAN hypothetical protein LOC57462 465 Extracellular (Potential). carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|breast(1)|central_nervous_system(1) 3 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) CTGACCTCGCCCGCGTCGAAC 0.672 NA 2 7 0 0 0 0 TMEM2 23670 broad.mit.edu 37 9 74332991 74332991 + Nonsense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr9:74332991G>A uc011lsa.1 - 13 2812 c.2272C>T c.(2272-2274)CGA>TGA p.R758* TMEM2_uc010mos.2_Nonsense_Mutation_p.R695*|TMEM2_uc011lsb.1_RNA NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 758 integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) TGATGAGGTCGAAATCTAGGG 0.338 NA 27 37 0 0 0 0 VPS13A 23230 broad.mit.edu 37 9 79853254 79853254 + Missense_Mutation SNP G G T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr9:79853254G>T uc004akr.2 + 19 2112 c.1852G>T c.(1852-1854)GCA>TCA p.A618S VPS13A_uc004akp.3_Missense_Mutation_p.A618S|VPS13A_uc004akq.3_Missense_Mutation_p.A618S|VPS13A_uc004aks.2_Missense_Mutation_p.A618S NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 618 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 ACAGCTCACTGCAGCAACTTT 0.348 NA 29 39 3.48e-35 1.38e-34 1 0 KIAA1529 57653 broad.mit.edu 37 9 100090306 100090306 + Nonsense_Mutation SNP G G T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr9:100090306G>T uc011lut.1 + 28 2988 c.2215G>T c.(2215-2217)GAA>TAA p.E739* KIAA1529_uc004axe.1_Nonsense_Mutation_p.E739*|KIAA1529_uc004axg.1_Nonsense_Mutation_p.E600*|KIAA1529_uc004axh.1_5'Flank|KIAA1529_uc011luw.1_5'Flank|KIAA1529_uc011lus.1_Nonsense_Mutation_p.E557*|KIAA1529_uc010msm.1_Intron|KIAA1529_uc004axf.2_Nonsense_Mutation_p.E600*|KIAA1529_uc011luv.1_Nonsense_Mutation_p.E597* NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) TCCCAGGTATGAATGTTTTCA 0.517 NA 86 118 2.62e-37 1.04e-36 1 0 ASTN2 23245 broad.mit.edu 37 9 119976967 119976967 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr9:119976967C>T uc004bjs.1 - 3 786 c.685G>A c.(685-687)GCC>ACC p.A229T ASTN2_uc004bjr.1_Missense_Mutation_p.A229T|ASTN2_uc004bjt.1_Missense_Mutation_p.A229T NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 229 Cytoplasmic (Potential). A -> V (found in a clear cell renal carcinoma case; somatic mutation). integral to membrane p.A229V(1) skin(4)|ovary(3)|breast(1)|kidney(1) 9 CGTCGCTGGGCGTACAGCGCC 0.607 NA 31 36 0 0 0 0 NAIF1 203245 broad.mit.edu 37 9 130829161 130829161 + Missense_Mutation SNP C C G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr9:130829161C>G uc004bta.2 - 1 439 c.220G>C c.(220-222)GAC>CAC p.D74H NAIF1_uc004bsz.2_RNA|SLC25A25_uc004btb.2_5'Flank NM_197956 NP_931045 Q69YI7 NAIF1_HUMAN nuclear apoptosis inducing factor 1 74 apoptosis|induction of apoptosis nucleus 0 GTCTTGAGGTCAGACCACTTC 0.697 NA 83 12 0 0 0 0 THOC2 57187 broad.mit.edu 37 X 122774415 122774415 + Missense_Mutation SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chrX:122774415T>C uc004etu.2 - 16 1752 c.1720A>G c.(1720-1722)AGC>GGC p.S574G THOC2_uc011muh.1_Missense_Mutation_p.S495G NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 574 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 GTTGGATTGCTGTGGCTCAAC 0.383 NA 60 5 0 0 0 0 GPR112 139378 broad.mit.edu 37 X 135404984 135404984 + Missense_Mutation SNP G G C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chrX:135404984G>C uc004ezu.1 + 5 409 c.118G>C c.(118-120)GAC>CAC p.D40H GPR112_uc010nsb.1_Intron NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 40 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) TGGAAGAGGTGACACATATGT 0.388 NA 38 9 0 0 0 0 ENO1 2023 broad.mit.edu 37 1 8926383 8926385 + In_Frame_Del DEL CCA CCA - TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:8926383_8926385delCCA uc001apj.1 - 7 771_773 c.620_622delTGG c.(619-624)GTGGGG>GGG p.V207del ENO1_uc001api.1_In_Frame_Del_p.V111del|ENO1_uc001apk.1_In_Frame_Del_p.V152del|ENO1_uc001apl.1_In_Frame_Del_p.V207del|ENO1_uc009vmi.1_In_Frame_Del_p.V164del|ENO1_uc009vmj.1_In_Frame_Del_p.V207del|ENO1_uc009vmk.1_In_Frame_Del_p.V81del|ENO1_uc009vml.1_In_Frame_Del_p.V207del NM_001428 NP_001419 P06733 ENOA_HUMAN enolase 1 207 Required for repression of c-myc promoter activity. gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus phosphopyruvate hydratase complex|plasma membrane|sarcomere DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2)|kidney(1)|central_nervous_system(1) 4 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) CCTTCATCCCCCACATTGGTGGC 0.552 NA 52 29 --- --- --- --- NA NA NA NA ZNF238 10472 broad.mit.edu 37 1 244217124 244217125 + Frame_Shift_Ins INS - - A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:244217124_244217125insA uc001iae.2 + 1 543_544 c.21_22insA c.(19-24)AGTAGAfs p.S7fs ZNF238_uc001iad.3_Frame_Shift_Ins_p.S16fs|ZNF238_uc001iaf.1_Frame_Shift_Ins_p.S7fs NM_006352 NP_006343 Q99592 ZN238_HUMAN zinc finger protein 238 isoform 2 7_8 negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|pancreas(2) 5 all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123) all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223) CAGACCATAGTAGACATTTGCT 0.51 NA 27 38 --- --- --- --- NA NA NA NA MAP3K12 7786 broad.mit.edu 37 12 53875912 53875913 + Frame_Shift_Ins INS - - T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:53875912_53875913insT uc001sdm.1 - 14 2391_2392 c.2293_2294insA c.(2293-2295)AGTfs p.S765fs MAP3K12_uc001sdn.1_Frame_Shift_Ins_p.S798fs NM_006301 NP_006292 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 765 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding lung(2)|ovary(1)|breast(1)|skin(1) 5 GGAAGGTTCACTAGCTGTGCCT 0.554 NA OREG0021873 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 73 93 --- --- --- --- NA NA NA NA NAV3 89795 broad.mit.edu 37 12 78400648 78400648 + Frame_Shift_Del DEL C C - TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:78400648delC uc001syp.2 + 8 1503 c.1330delC c.(1330-1332)CCTfs p.P444fs NAV3_uc001syo.2_Frame_Shift_Del_p.P444fs NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 444 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CAAAGTGTCACCTAAGTTGGC 0.408 NA HNSCC(70;0.22) 34 68 --- --- --- --- NA NA NA NA JUB 84962 broad.mit.edu 37 14 23451332 23451332 + Frame_Shift_Del DEL C C - TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr14:23451332delC uc001whz.2 - 1 520 c.144delG c.(142-144)GGGfs p.G48fs NM_032876 NP_116265 Q96IF1 JUB_HUMAN ajuba isoform 1 48 PreLIM. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding 0 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0122) CTCCTCGGGGCCCTGACTTCC 0.682 NA 115 12 --- --- --- --- NA NA NA NA MBD1 4152 broad.mit.edu 37 18 47800213 47800214 + Frame_Shift_Ins INS - - AC TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr18:47800213_47800214insAC uc010dow.1 - 12 1603_1604 c.1166_1167insGT c.(1165-1167)GTCfs p.V389fs MBD1_uc002lef.2_Frame_Shift_Ins_p.V140fs|MBD1_uc002leg.2_Frame_Shift_Ins_p.V339fs|MBD1_uc010xdi.1_Frame_Shift_Ins_p.V440fs|MBD1_uc002leh.3_Frame_Shift_Ins_p.V333fs|MBD1_uc002len.2_Frame_Shift_Ins_p.V389fs|MBD1_uc002lei.3_Frame_Shift_Ins_p.V389fs|MBD1_uc002lej.3_Frame_Shift_Ins_p.V333fs|MBD1_uc002lek.3_Frame_Shift_Ins_p.V340fs|MBD1_uc002lel.3_Frame_Shift_Ins_p.V366fs|MBD1_uc002lem.3_Frame_Shift_Ins_p.V389fs|MBD1_uc010xdj.1_Frame_Shift_Ins_p.V333fs|MBD1_uc010xdk.1_Frame_Shift_Ins_p.V414fs|MBD1_uc010dox.1_Frame_Shift_Ins_p.V366fs|MBD1_uc002leo.2_Frame_Shift_Ins_p.V389fs NM_015846 NP_056671 Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 isoform 1 389 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 ACTCTGACCAGACACTGGGCAG 0.609 NA 43 91 --- --- --- --- NA NA NA NA ZNF208 7757 broad.mit.edu 37 19 22154308 22154308 + Frame_Shift_Del DEL T T - TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:22154308delT uc002nqp.2 - 6 3293 c.3144delA c.(3142-3144)AAAfs p.K1048fs 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) TAACAAAGCCTTTGCCACATT 0.383 NA 10 66 --- --- --- --- NA NA NA NA PPP1R3D 5509 broad.mit.edu 37 20 58514574 58514577 + Frame_Shift_Del DEL TTGA TTGA - TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr20:58514574_58514577delTTGA uc002ybb.2 - 1 776_779 c.410_413delTCAA c.(409-414)ATCAACfs p.I137fs C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank NM_006242 NP_006233 O95685 PPR3D_HUMAN protein phosphatase 1, regulatory subunit 3D 137_138 glycogen metabolic process protein binding|protein serine/threonine phosphatase activity 0 all_lung(29;0.00391) BRCA - Breast invasive adenocarcinoma(7;5.12e-09) CAGGTCCGAGTTGATTGCGAGCCG 0.681 NA 22 26 --- --- --- --- NA NA NA NA EIF4G1 1981 broad.mit.edu 37 3 184039744 184039746 + In_Frame_Del DEL GAA GAA - TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr3:184039744_184039746delGAA uc003fnp.2 + 10 1570_1572 c.1372_1374delGAA c.(1372-1374)GAAdel p.E465del EIF4G1_uc003fno.1_In_Frame_Del_p.E406del|EIF4G1_uc010hxw.1_In_Frame_Del_p.E301del|EIF4G1_uc003fnt.2_In_Frame_Del_p.E176del|EIF4G1_uc003fnq.2_In_Frame_Del_p.E378del|EIF4G1_uc003fnr.2_In_Frame_Del_p.E301del|EIF4G1_uc010hxx.2_In_Frame_Del_p.E472del|EIF4G1_uc003fns.2_In_Frame_Del_p.E425del|EIF4G1_uc010hxy.2_In_Frame_Del_p.E472del|EIF4G1_uc003fnv.3_In_Frame_Del_p.E465del|EIF4G1_uc003fnu.3_In_Frame_Del_p.E465del|EIF4G1_uc003fnw.2_In_Frame_Del_p.E472del|EIF4G1_uc003fnx.2_In_Frame_Del_p.E269del|EIF4G1_uc003fny.3_In_Frame_Del_p.E269del NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 465 Poly-Glu. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGAGGAAATGgaagaagaagaag 0.443 NA 7 190 --- --- --- --- NA NA NA NA USP38 84640 broad.mit.edu 37 4 144106780 144106780 + Frame_Shift_Del DEL G G - TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr4:144106780delG uc003ijb.2 + 1 711 c.177delG c.(175-177)CAGfs p.Q59fs USP38_uc003ija.3_Frame_Shift_Del_p.Q59fs|USP38_uc003ijc.2_RNA NM_032557 NP_115946 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 59 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_hematologic(180;0.158) TCCAGCGGCAGGTGGGGCACC 0.627 NA 17 9 --- --- --- --- NA NA NA NA HIST1H2BG 8339 broad.mit.edu 37 6 26216820 26216831 + In_Frame_Del DEL CCTTCTTGGAAC CCTTCTTGGAAC - rs143774290 TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr6:26216820_26216831delCCTTCTTGGAAC uc003ngz.2 - 1 42_53 c.41_52delGTTCCAAGAAGG c.(40-54)GGTTCCAAGAAGGCT>GCT p.GSKK14del HIST1H2AE_uc003nha.1_5'Flank NM_003518 NP_003509 P62807 H2B1C_HUMAN histone cluster 1, H2bg 14_17 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding p.K17E(1) ovary(1) 1 all_hematologic(11;0.196) TTGGTCACAGCCTTCTTGGAACCCTTCTTCGG 0.491 NA 32 48 --- --- --- --- NA NA NA NA