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 ZMYM1 79830 broad.mit.edu 37 1 35580838 35580841 + Frame_Shift_Del DEL TCAG - - TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr1:35580838_35580841delTCAG uc001bym.2 + 11 3555_3558 c.3407_3410delTCAG c.(3406-3411)ATCAGTfs p.I1136fs ZMYM1_uc001byn.2_Frame_Shift_Del_p.I1136fs|ZMYM1_uc010ohu.1_Frame_Shift_Del_p.I1117fs|ZMYM1_uc001byo.2_Frame_Shift_Del_p.I776fs|ZMYM1_uc009vut.2_Frame_Shift_Del_p.I1061fs NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 1136_1137 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GAAAAGTTTATCAGTCAGATGAAA 0.348 GNG5 2787 broad.mit.edu 37 1 84967630 84967630 + Missense_Mutation SNP C A A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr1:84967630C>A uc001djw.3 - 3 459 c.105G>T c.(103-105)TTG>TTT p.L35F NM_005274 NP_005265 P63218 GBG5_HUMAN guanine nucleotide binding protein (G protein), 35 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex GTPase activity|signal transducer activity 0 all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159) AGAACTGTTTCAAGTCTGCAG 0.433 SPAG17 200162 broad.mit.edu 37 1 118539227 118539227 + Missense_Mutation SNP A T T TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr1:118539227A>T uc001ehk.2 - 33 4984 c.4916T>A c.(4915-4917)GTC>GAC p.V1639D NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1639 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TTACCTGGGGACATGTTCACC 0.299 BCL9 607 broad.mit.edu 37 1 147092093 147092093 + Missense_Mutation SNP T G G TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr1:147092093T>G uc001epq.2 + 8 2872 c.2132T>G c.(2131-2133)ATG>AGG p.M711R BCL9_uc010ozr.1_Missense_Mutation_p.M637R NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 711 Pro-rich. Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) GAGTTTGGGATGGTTCCTAGT 0.527 T IGH@|IGL@ B-ALL KPRP 448834 broad.mit.edu 37 1 152732521 152732521 + Missense_Mutation SNP T G G TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr1:152732521T>G uc001fal.1 + 2 515 c.457T>G c.(457-459)TAT>GAT p.Y153D NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 153 Gln-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AGTCCAGAACTATGTACCCTG 0.512 NPR1 4881 broad.mit.edu 37 1 153657481 153657481 + Missense_Mutation SNP G A A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr1:153657481G>A uc001fcs.3 + 8 1947 c.1526G>A c.(1525-1527)CGG>CAG p.R509Q NPR1_uc010pdz.1_Missense_Mutation_p.R255Q|NPR1_uc010pea.1_Missense_Mutation_p.R13Q NM_000906 NP_000897 P16066 ANPRA_HUMAN natriuretic peptide receptor 1 precursor 509 Cytoplasmic (Potential). body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity ovary(3)|lung(2)|stomach(1)|breast(1) 7 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GAGCTGTGGCGGGTGCGCTGG 0.647 C1orf198 84886 broad.mit.edu 37 1 230979428 230979428 + Missense_Mutation SNP C T T TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr1:230979428C>T uc001hub.2 - 3 643 c.599G>A c.(598-600)GGG>GAG p.G200E C1orf198_uc009xfh.1_Missense_Mutation_p.G70E|C1orf198_uc001huc.1_5'UTR|C1orf198_uc001hud.1_Missense_Mutation_p.G162E NM_032800 NP_116189 Q9H425 CA198_HUMAN hypothetical protein LOC84886 isoform 1 200 0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) AGGCCCCTCCCCTCGGGACCG 0.632 OR2M3 127062 broad.mit.edu 37 1 248366725 248366725 + Missense_Mutation SNP C A A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr1:248366725C>A uc010pzg.1 + 1 356 c.356C>A c.(355-357)GCT>GAT p.A119D NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 119 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GCTGTTATGGCTTATGACCGC 0.463 CDHR1 92211 broad.mit.edu 37 10 85962739 85962739 + Missense_Mutation SNP G T T TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr10:85962739G>T uc001kcv.2 + 8 643 c.643G>T c.(643-645)GGC>TGC p.G215C CDHR1_uc001kcw.2_Missense_Mutation_p.G215C|CDHR1_uc009xst.2_5'UTR NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN protocadherin 21 precursor 215 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion calcium ion binding|receptor activity ovary(1) 1 TCTGCAGGATGGCGGTGGGAG 0.393 AHNAK 79026 broad.mit.edu 37 11 62286891 62286891 + Missense_Mutation SNP C G G TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr11:62286891C>G uc001ntl.2 - 5 15298 c.14998G>C c.(14998-15000)GTT>CTT p.V5000L AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 5000 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GCCTCAGGAACAGTGACATCC 0.433 MTMR2 8898 broad.mit.edu 37 11 95580911 95580911 + Silent SNP G A A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr11:95580911G>A uc001pfu.2 - 10 1399 c.1146C>T c.(1144-1146)AAC>AAT p.N382N MTMR2_uc001pfv.2_Silent_p.N310N|MTMR2_uc001pfs.2_Silent_p.N310N|MTMR2_uc001pft.2_Silent_p.N310N|MTMR2_uc010ruj.1_Silent_p.N365N NM_016156 NP_057240 Q13614 MTMR2_HUMAN myotubularin-related protein 2 isoform 1 382 Myotubularin phosphatase. nucleus inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity pancreas(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TAGATTCCAAGTTAGACAACC 0.368 SCN3B 55800 broad.mit.edu 37 11 123513193 123513193 + Missense_Mutation SNP T C C TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr11:123513193T>C uc001pza.1 - 4 813 c.406A>G c.(406-408)AAG>GAG p.K136E SCN3B_uc001pzb.1_Missense_Mutation_p.K136E NM_001040151 NP_001035241 Q9NY72 SCN3B_HUMAN voltage-gated sodium channel beta-3 subunit 136 Ig-like C2-type.|Extracellular (Potential). axon guidance integral to membrane|plasma membrane voltage-gated sodium channel activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227) CGCGTCGTCTTCACAAAGGGC 0.592 EFCAB4B 84766 broad.mit.edu 37 12 3788105 3788105 + Missense_Mutation SNP A G G TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr12:3788105A>G uc001qmj.2 - 6 1072 c.500T>C c.(499-501)CTT>CCT p.L167P EFCAB4B_uc010sen.1_Missense_Mutation_p.L167P|EFCAB4B_uc010seo.1_Missense_Mutation_p.L167P NM_032680 NP_116069 Q9BSW2 EFC4B_HUMAN EF-hand calcium binding domain 4B isoform c 167 activation of store-operated calcium channel activity|store-operated calcium entry cytoplasm calcium ion binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264) TTGGGCTCCAAGTCTGTCCAT 0.517 NDUFA9 4704 broad.mit.edu 37 12 4771765 4771765 + Missense_Mutation SNP T C C TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr12:4771765T>C uc001qnc.2 + 6 629 c.619T>C c.(619-621)TTT>CTT p.F207L NDUFA9_uc009zei.1_Missense_Mutation_p.F207L|NDUFA9_uc010ses.1_5'UTR NM_005002 NP_004993 Q16795 NDUA9_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 207 mitochondrial electron transport, NADH to ubiquinone|sodium ion transport mitochondrial matrix|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding ovary(1) 1 NADH(DB00157) GTCGGACATCTTTGGAAGAGA 0.393 PLEKHA5 54477 broad.mit.edu 37 12 19285373 19285373 + Missense_Mutation SNP A T T TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr12:19285373A>T uc001reb.2 + 3 302 c.216A>T c.(214-216)AGA>AGT p.R72S PLEKHA5_uc010sie.1_Missense_Mutation_p.R72S|PLEKHA5_uc001rea.2_Missense_Mutation_p.R72S|PLEKHA5_uc009zin.2_5'UTR|PLEKHA5_uc001rdz.3_Missense_Mutation_p.R72S NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A 72 WW 2. 1-phosphatidylinositol binding|protein binding ovary(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) AAGGTGCAAGATACTATATAA 0.313 H3F3C 440093 broad.mit.edu 37 12 31944878 31944878 + Missense_Mutation SNP C T T rs141415515 TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr12:31944878C>T uc001rkr.2 - 1 298 c.223G>A c.(223-225)GCG>ACG p.A75T NM_001013699 NP_001013721 Q6NXT2 H3C_HUMAN histone H3-like 75 nucleosome assembly nucleosome|nucleus DNA binding 0 AAATCCTGCGCGATCTCCCTC 0.587 HNSCC(67;0.2) OR6C75 390323 broad.mit.edu 37 12 55759176 55759176 + Silent SNP G T T rs113253007 TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr12:55759176G>T uc010spk.1 + 1 282 c.282G>T c.(280-282)GGG>GGT p.G94G NM_001005497 NP_001005497 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, 94 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 CTTATAATGGGTGTGTGGCTC 0.448 SMARCC2 6601 broad.mit.edu 37 12 56578637 56578637 + Missense_Mutation SNP C G G TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr12:56578637C>G uc001skb.2 - 5 589 c.483G>C c.(481-483)AAG>AAC p.K161N SMARCC2_uc001skd.2_Missense_Mutation_p.K161N|SMARCC2_uc001ska.2_Missense_Mutation_p.K161N|SMARCC2_uc001skc.2_Missense_Mutation_p.K161N|SMARCC2_uc010sqf.1_Missense_Mutation_p.K50N NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN SWI/SNF-related matrix-associated 161 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity lung(2)|central_nervous_system(2)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(18;0.123) CCTGGTGTCTCTTGATAATGT 0.418 MARCH9 92979 broad.mit.edu 37 12 58152353 58152353 + Silent SNP C A A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr12:58152353C>A uc001spx.1 + 4 1126 c.714C>A c.(712-714)ATC>ATA p.I238I MARCH9_uc001spy.2_Silent_p.I125I NM_138396 NP_612405 Q86YJ5 MARH9_HUMAN membrane-associated RING-CH protein IX 238 Helical; (Potential). Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network ligase activity|zinc ion binding 0 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) CAGGCCTCATCATCCATGAAG 0.478 IFNG 3458 broad.mit.edu 37 12 68552011 68552011 + Missense_Mutation SNP T C C TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr12:68552011T>C uc001stw.1 - 2 269 c.143A>G c.(142-144)AAT>AGT p.N48S NM_000619 NP_000610 P01579 IFNG_HUMAN interferon, gamma precursor 48 cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus extracellular space cytokine activity|interferon-gamma receptor binding 0 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000829) Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641) AAGAGTTCCATTATCCGCTAC 0.308 CNOT2 4848 broad.mit.edu 37 12 70732228 70732228 + Missense_Mutation SNP G C C TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr12:70732228G>C uc001svv.2 + 10 1485 c.906G>C c.(904-906)TTG>TTC p.L302F CNOT2_uc009zro.2_Missense_Mutation_p.L302F|CNOT2_uc009zrp.2_Missense_Mutation_p.L282F|CNOT2_uc009zrq.2_Missense_Mutation_p.L302F|CNOT2_uc001svw.1_Missense_Mutation_p.L42F NM_014515 NP_055330 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 302 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity 0 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) GCTAGAATTTGAATACATCTG 0.294 CNOT2 4848 broad.mit.edu 37 12 70732315 70732315 + Missense_Mutation SNP G C C TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr12:70732315G>C uc001svv.2 + 10 1572 c.993G>C c.(991-993)CAG>CAC p.Q331H CNOT2_uc009zro.2_Missense_Mutation_p.Q331H|CNOT2_uc009zrp.2_Missense_Mutation_p.Q311H|CNOT2_uc009zrq.2_Missense_Mutation_p.Q331H|CNOT2_uc001svw.1_Missense_Mutation_p.Q71H NM_014515 NP_055330 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 331 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity 0 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) ATAACCAGCAGAAAAAAGGGA 0.338 FSCB 84075 broad.mit.edu 37 14 44974567 44974567 + Missense_Mutation SNP C A A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr14:44974567C>A uc001wvn.2 - 1 1933 c.1624G>T c.(1624-1626)GCT>TCT p.A542S NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 542 Ala-rich. cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) GGAGACTGAGCTTCAGCAGGA 0.493 ACTN1 87 broad.mit.edu 37 14 69349203 69349203 + Missense_Mutation SNP A C C TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr14:69349203A>C uc001xkl.2 - 16 2235 c.1925T>G c.(1924-1926)ATC>AGC p.I642S ACTN1_uc001xkk.2_Missense_Mutation_p.I238S|ACTN1_uc010ttb.1_Missense_Mutation_p.I577S|ACTN1_uc001xkm.2_Missense_Mutation_p.I642S|ACTN1_uc001xkn.2_Missense_Mutation_p.I642S|ACTN1_uc010ttc.1_Missense_Mutation_p.I227S NM_001102 NP_001093 P12814 ACTN1_HUMAN actinin, alpha 1 isoform b 642 Spectrin 4.|Interaction with DDN. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) CCAGGGCCCGATGACATTGGC 0.642 ACOT4 122970 broad.mit.edu 37 14 74060458 74060458 + Silent SNP C A A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr14:74060458C>A uc001xoo.2 + 2 764 c.510C>A c.(508-510)CTC>CTA p.L170L NM_152331 NP_689544 Q8N9L9 ACOT4_HUMAN acyl-CoA thioesterase 4 170 acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process peroxisome carboxylesterase activity|palmitoyl-CoA hydrolase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00331) GAGGGGGCCTCTTGGAATATC 0.423 MAPKBP1 23005 broad.mit.edu 37 15 42107465 42107465 + Silent SNP C T T TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr15:42107465C>T uc001zok.3 + 12 1483 c.1197C>T c.(1195-1197)CCC>CCT p.P399P MAPKBP1_uc001zoj.3_Silent_p.P393P|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Silent_p.P393P|MAPKBP1_uc010udb.1_Intron|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_5'UTR NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 399 WD 6. central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) AGGTCTACCCCGAGGTGAAGG 0.572 SLC9A5 6553 broad.mit.edu 37 16 67298319 67298319 + Missense_Mutation SNP T G G TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr16:67298319T>G uc002esm.2 + 13 1970 c.1907T>G c.(1906-1908)GTC>GGC p.V636G SLC9A5_uc010cee.2_Missense_Mutation_p.V341G|SLC9A5_uc010vji.1_Missense_Mutation_p.V140G NM_004594 NP_004585 Q14940 SL9A5_HUMAN solute carrier family 9 (sodium/hydrogen 636 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity ovary(1)|pancreas(1) 2 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) GACAAGGAGGTCTTCCAGCAG 0.587 CAMKK1 84254 broad.mit.edu 37 17 3772866 3772866 + Missense_Mutation SNP G A A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr17:3772866G>A uc002fwt.2 - 14 1350 c.1256C>T c.(1255-1257)TCG>TTG p.S419L CAMKK1_uc002fwu.2_Missense_Mutation_p.S419L|CAMKK1_uc002fwv.2_Missense_Mutation_p.S457L NM_172206 NP_757343 Q8N5S9 KKCC1_HUMAN calcium/calmodulin-dependent protein kinase 1 419 synaptic transmission cytosol|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1) 1 LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176) CTCCTCCTCCGAAGGAAGGGG 0.632 NUFIP2 57532 broad.mit.edu 37 17 27620990 27620992 + In_Frame_Del DEL GCT - - TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr17:27620990_27620992delGCT uc002hdy.3 - 1 175_177 c.86_88delAGC c.(85-90)CAGCCG>CCG p.Q29del NUFIP2_uc002hdx.3_In_Frame_Del_p.Q29del NM_020772 NP_065823 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein 29 His-rich. nucleus|polysomal ribosome protein binding|RNA binding skin(2)|ovary(1)|breast(1) 4 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) tggtggtgcggctgctgctgctg 0.251 MED13 9969 broad.mit.edu 37 17 60061549 60061549 + Missense_Mutation SNP C A A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr17:60061549C>A uc002izo.2 - 15 2948 c.2871G>T c.(2869-2871)ATG>ATT p.M957I NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 957 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 TGATGAATGGCATTGAAGGCC 0.378 CBX8 57332 broad.mit.edu 37 17 77769275 77769275 + Missense_Mutation SNP G A A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr17:77769275G>A uc002jxd.1 - 5 422 c.329C>T c.(328-330)TCG>TTG p.S110L NM_020649 NP_065700 Q9HC52 CBX8_HUMAN chromobox homolog 8 110 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex methylated histone residue binding 0 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GTCCTGGGGCGAGCGGCCAGG 0.657 POTEC 388468 broad.mit.edu 37 18 14543019 14543019 + Missense_Mutation SNP T C C TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 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 INO80C 125476 broad.mit.edu 37 18 33077703 33077703 + Missense_Mutation SNP A T T TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr18:33077703A>T uc002kyy.3 - 1 253 c.136T>A c.(136-138)TCC>ACC p.S46T INO80C_uc002kyw.1_Missense_Mutation_p.S46T|INO80C_uc002kyx.3_5'Flank|INO80C_uc010dmt.2_Missense_Mutation_p.S46T NM_194281 NP_919257 Q6PI98 IN80C_HUMAN Ies6-similar protein isoform 2 46 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|MLL1 complex 0 CTGGAAGCGGACGCTTTTTTC 0.672 POLI 11201 broad.mit.edu 37 18 51820790 51820790 + Missense_Mutation SNP G A A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr18:51820790G>A uc002lfj.3 + 10 2244 c.2176G>A c.(2176-2178)GCA>ACA p.A726T POLI_uc010xds.1_Missense_Mutation_p.A647T|POLI_uc002lfk.3_Missense_Mutation_p.A623T|POLI_uc010dpg.2_Missense_Mutation_p.A322T NM_007195 NP_009126 Q9UNA4 POLI_HUMAN DNA polymerase iota 726 DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding ovary(2)|kidney(1) 3 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) GGAACTGCTGGCAGAGTGGAA 0.388 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage DUS3L 56931 broad.mit.edu 37 19 5790075 5790075 + Missense_Mutation SNP A C C TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr19:5790075A>C uc002mdc.2 - 2 467 c.370T>G c.(370-372)TGT>GGT p.C124G DUS3L_uc002mdd.2_Intron|DUS3L_uc010duk.2_5'UTR|DUS3L_uc010xiw.1_Intron NM_020175 NP_064560 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like isoform 1 124 C3H1-type 1. tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding 0 AGGGAGGGACACAGCCTGTTC 0.607 ADAMTS10 81794 broad.mit.edu 37 19 8651442 8651442 + Missense_Mutation SNP C A A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr19:8651442C>A uc002mkj.1 - 20 2677 c.2403G>T c.(2401-2403)ATG>ATT p.M801I ADAMTS10_uc002mki.1_Missense_Mutation_p.M288I|ADAMTS10_uc002mkk.1_Missense_Mutation_p.M433I NM_030957 NP_112219 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 801 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding pancreas(2)|skin(2) 4 TCCCTGTTACCATGACGATGA 0.597 OREG0025221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CDC37 11140 broad.mit.edu 37 19 10506731 10506731 + Missense_Mutation SNP A T T TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr19:10506731A>T uc002mof.1 - 2 367 c.251T>A c.(250-252)CTG>CAG p.L84Q CDC37_uc002moe.1_5'Flank|CDC37_uc010dxf.1_5'UTR|CDC37_uc002mog.1_Missense_Mutation_p.L84Q|CDC37_uc002moh.2_Missense_Mutation_p.L84Q NM_007065 NP_008996 Q16543 CDC37_HUMAN cell division cycle 37 protein 84 protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway unfolded protein binding 0 OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06) GBM - Glioblastoma multiforme(1328;0.0318) CTCGGCCTGCAGGCGCTCCAG 0.662 CC2D1A 54862 broad.mit.edu 37 19 14029731 14029731 + Missense_Mutation SNP C A A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr19:14029731C>A uc002mxo.2 + 10 1324 c.1025C>A c.(1024-1026)CCC>CAC p.P342H CC2D1A_uc002mxn.2_Missense_Mutation_p.P241H|CC2D1A_uc002mxp.2_Missense_Mutation_p.P342H|CC2D1A_uc010dzh.2_5'UTR|CC2D1A_uc002mxq.1_5'UTR NM_017721 NP_060191 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 342 Pro-rich. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity 0 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) CCAGAGGTGCCCCCACCCCCG 0.672 MYO9B 4650 broad.mit.edu 37 19 17212559 17212559 + Missense_Mutation SNP G A A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr19:17212559G>A uc010eak.2 + 2 184 c.32G>A c.(31-33)CGC>CAC p.R11H MYO9B_uc002nfi.2_Missense_Mutation_p.R11H|MYO9B_uc002nfj.1_Missense_Mutation_p.R11H NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 11 Myosin head-like. 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 AGCTCGGGCCGCCGGGAGCAG 0.692 SCAF1 58506 broad.mit.edu 37 19 50155916 50155918 + In_Frame_Del DEL CCT - - TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr19:50155916_50155918delCCT uc002poq.2 + 7 2394_2396 c.2270_2272delCCT c.(2269-2274)GCCTCC>GCC p.S763del NM_021228 NP_067051 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 763 Ser-rich. mRNA processing|RNA splicing nucleus RNA binding 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) TCGGGGGCCGCCTCCTCCTCCTC 0.562 C2orf16 84226 broad.mit.edu 37 2 27799823 27799823 + Silent SNP G A A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr2:27799823G>A uc002rkz.3 + 1 435 c.384G>A c.(382-384)CAG>CAA p.Q128Q NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 128 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) CAGGGCATCAGTTTGCAAAAT 0.403 MAP4K3 8491 broad.mit.edu 37 2 39560698 39560698 + Missense_Mutation SNP T G G TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr2:39560698T>G uc002rro.2 - 7 523 c.432A>C c.(430-432)TTA>TTC p.L144F MAP4K3_uc002rrp.2_Missense_Mutation_p.L144F NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase 144 Protein kinase. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(3)|lung(3)|stomach(1)|pancreas(1) 8 all_hematologic(82;0.211) CATTATCCGTTAATAGAATGT 0.269 BCL11A 53335 broad.mit.edu 37 2 60688972 60688972 + Missense_Mutation SNP G C C TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr2:60688972G>C uc002sae.1 - 4 1303 c.1075C>G c.(1075-1077)CCC>GCC p.P359A BCL11A_uc002sab.2_Missense_Mutation_p.P359A|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Missense_Mutation_p.P325A|BCL11A_uc002sad.1_Missense_Mutation_p.P207A|BCL11A_uc002saf.1_Missense_Mutation_p.P325A NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 359 Pro-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GGAGGGAGGGGGGGCGTCGCC 0.632 T IGH@ B-CLL GPR45 11250 broad.mit.edu 37 2 105859160 105859160 + Missense_Mutation SNP C T T TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr2:105859160C>T uc002tco.1 + 1 961 c.845C>T c.(844-846)CCC>CTC p.P282L NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 282 Helical; Name=6; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 TGCTGGCTGCCCCACTCCGTC 0.592 HCK 3055 broad.mit.edu 37 20 30661155 30661155 + Missense_Mutation SNP A T T TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr20:30661155A>T uc002wxh.2 + 3 388 c.217A>T c.(217-219)ATC>TTC p.I73F HCK_uc010gdy.2_Missense_Mutation_p.I52F|HCK_uc002wxi.2_Missense_Mutation_p.I52F NM_002110 NP_002101 P08631 HCK_HUMAN hemopoietic cell kinase isoform p61HCK 73 interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1) 9 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CACACCAGGAATCAGGGAGGG 0.468 R3HDML 140902 broad.mit.edu 37 20 42973947 42973947 + Silent SNP C T T TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr20:42973947C>T uc002xls.1 + 4 730 c.558C>T c.(556-558)ACC>ACT p.T186T NM_178491 NP_848586 Q9H3Y0 CRSPL_HUMAN R3H domain containing-like precursor 186 extracellular region peptidase inhibitor activity 0 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) CCATCCACACCTGTAGTAGCA 0.582 SEMG2 6407 broad.mit.edu 37 20 43851147 43851147 + Missense_Mutation SNP C T T rs140069155 TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr20:43851147C>T uc010ggz.2 + 2 931 c.874C>T c.(874-876)CGT>TGT p.R292C SEMG2_uc002xnk.2_Missense_Mutation_p.R292C|SEMG2_uc002xnl.2_Missense_Mutation_p.R292C NM_003008 NP_002999 Q02383 SEMG2_HUMAN semenogelin II precursor 292 Repeat-rich region.|4 X 60 AA tandem repeats, type I. sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(1) 1 Myeloproliferative disorder(115;0.0122) CCCGTCTTCACGTACAGAAGA 0.393 LZTR1 8216 broad.mit.edu 37 22 21349003 21349003 + Missense_Mutation SNP T G G TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr22:21349003T>G uc002zto.2 + 15 1875 c.1772T>G c.(1771-1773)CTG>CGG p.L591R LZTR1_uc002ztn.2_Missense_Mutation_p.L550R|LZTR1_uc011ahy.1_Missense_Mutation_p.L572R|LZTR1_uc002ztp.2_5'Flank NM_006767 NP_006758 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 591 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity ovary(2)|lung(2) 4 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CGGCTGCAGCTGAGCCAACTC 0.667 PPIL2 23759 broad.mit.edu 37 22 22042378 22042378 + Missense_Mutation SNP C A A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr22:22042378C>A uc010gtj.1 + 14 1120 c.1004C>A c.(1003-1005)CCC>CAC p.P335H PPIL2_uc002zvh.3_Missense_Mutation_p.P335H|PPIL2_uc002zvi.3_Missense_Mutation_p.P335H|PPIL2_uc002zvg.3_Missense_Mutation_p.P335H|PPIL2_uc011aij.1_Missense_Mutation_p.P314H|PPIL2_uc002zvk.3_Missense_Mutation_p.P81H NM_148175 NP_680480 Q13356 PPIL2_HUMAN peptidylprolyl isomerase-like 2 isoform a 335 PPIase cyclophilin-type. blood coagulation|leukocyte migration|protein folding|protein polyubiquitination Golgi lumen|nucleus|ubiquitin ligase complex peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity ovary(2) 2 Colorectal(54;0.105) GGGGGCGACCCCACAGGCACA 0.642 PRRT3 285368 broad.mit.edu 37 3 9989638 9989638 + Missense_Mutation SNP G A A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr3:9989638G>A uc003bul.2 - 4 1349 c.1219C>T c.(1219-1221)CCC>TCC p.P407S CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA NM_207351 NP_997234 Q5FWE3 PRRT3_HUMAN proline-rich transmembrane protein 3 precursor 407 Extracellular (Potential).|Pro-rich. integral to membrane 0 TGGACTGGGGGTGCTGGGGGA 0.607 MUC7 4589 broad.mit.edu 37 4 71346565 71346565 + Missense_Mutation SNP A G G TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr4:71346565A>G uc011cat.1 + 4 392 c.104A>G c.(103-105)CAT>CGT p.H35R MUC7_uc011cau.1_Missense_Mutation_p.H35R|MUC7_uc003hfj.2_Missense_Mutation_p.H35R|uc011cav.1_RNA NM_001145006 NP_001138478 Q8TAX7 MUC7_HUMAN mucin 7, secreted precursor 35 extracellular region protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 Lung(101;0.211) AGAAGGCATCATCACCAATCA 0.318 RASGEF1B 153020 broad.mit.edu 37 4 82380500 82380500 + Missense_Mutation SNP C A A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr4:82380500C>A uc003hmi.1 - 2 307 c.163G>T c.(163-165)GAT>TAT p.D55Y RASGEF1B_uc003hmj.1_Missense_Mutation_p.D55Y|RASGEF1B_uc010ijq.1_Missense_Mutation_p.D55Y|RASGEF1B_uc003hmk.2_Missense_Mutation_p.D55Y NM_152545 NP_689758 Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 55 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity 0 GGATAGTAATCCACATTAGGT 0.443 FNIP2 57600 broad.mit.edu 37 4 159790265 159790265 + Missense_Mutation SNP C G G TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr4:159790265C>G uc003iqe.3 + 13 2660 c.2477C>G c.(2476-2478)GCA>GGA p.A826G NM_020840 NP_065891 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 826 Interaction with PRKAA1. DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding 0 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) TCCCACGGTGCAGGAGGAACG 0.607 NEK1 4750 broad.mit.edu 37 4 170345795 170345795 + Missense_Mutation SNP C A A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr4:170345795C>A uc003isb.1 - 29 3539 c.3047G>T c.(3046-3048)CGA>CTA p.R1016L NEK1_uc003isc.1_Missense_Mutation_p.R972L|NEK1_uc003isd.1_Missense_Mutation_p.R1044L|NEK1_uc003ise.1_Missense_Mutation_p.R1000L|NEK1_uc003isf.1_Missense_Mutation_p.R947L NM_012224 NP_036356 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 1016 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(3)|ovary(2)|large_intestine(1) 6 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) CGAGTGAGATCGAAATGCAAA 0.398 SLC9A3 6550 broad.mit.edu 37 5 481703 481703 + Silent SNP G A A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr5:481703G>A uc003jbe.2 - 9 1606 c.1494C>T c.(1492-1494)ATC>ATT p.I498I SLC9A3_uc011clx.1_Silent_p.I489I NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 498 Cytoplasmic (Potential). cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) AATTGTGCCCGATCTGTCCGG 0.582 NSUN2 54888 broad.mit.edu 37 5 6600309 6600309 + Silent SNP G A A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr5:6600309G>A uc003jdu.2 - 19 2099 c.2034C>T c.(2032-2034)TGC>TGT p.C678C NSUN2_uc003jds.2_Silent_p.C124C|NSUN2_uc003jdt.2_Silent_p.C442C|NSUN2_uc011cmk.1_Silent_p.C643C|NSUN2_uc003jdv.2_Silent_p.C442C NM_017755 NP_060225 Q08J23 NSUN2_HUMAN NOL1/NOP2/Sun domain family, member 2 678 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding ovary(1) 1 CCCGCCATCCGCATAAGACGA 0.458 MYO10 4651 broad.mit.edu 37 5 16668401 16668401 + Silent SNP G A A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr5:16668401G>A uc003jft.3 - 40 6528 c.6060C>T c.(6058-6060)CTC>CTT p.L2020L MYO10_uc011cnb.1_Silent_p.L649L|MYO10_uc011cnc.1_Silent_p.L899L|MYO10_uc011cnd.1_Silent_p.L1377L|MYO10_uc011cne.1_Silent_p.L1377L|MYO10_uc010itx.2_Silent_p.L1642L NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 2020 FERM. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 TGGTTTCAAAGAGCAGCTCCC 0.463 HIST1H2AA 221613 broad.mit.edu 37 6 25726579 25726579 + Silent SNP G T T TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr6:25726579G>T uc003nfc.2 - 1 212 c.177C>A c.(175-177)CTC>CTA p.L59L HIST1H2BA_uc003nfd.2_5'Flank NM_170745 NP_734466 Q96QV6 H2A1A_HUMAN histone cluster 1, H2aa 59 nucleosome assembly nucleosome|nucleus DNA binding 0 TTTCTGCTGTGAGATACTCTA 0.537 PSMB8 5696 broad.mit.edu 37 6 32811722 32811722 + Missense_Mutation SNP C T T TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr6:32811722C>T uc003oce.2 - 1 95 c.52G>A c.(52-54)GCT>ACT p.A18T PSMB8_uc003ocf.2_Intron|PSMB8_uc011dqh.1_Missense_Mutation_p.A18T NM_148919 NP_683720 P28062 PSB8_HUMAN proteasome beta 8 subunit isoform E2 proprotein 18 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity skin(1) 1 ACCGGGAGAGCCGATTCCGGC 0.637 SCUBE3 222663 broad.mit.edu 37 6 35210070 35210072 + In_Frame_Del DEL GAG - - TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr6:35210070_35210072delGAG uc003okf.1 + 13 1513_1515 c.1507_1509delGAG c.(1507-1509)GAGdel p.E504del SCUBE3_uc003okg.1_In_Frame_Del_p.E503del|SCUBE3_uc003okh.1_In_Frame_Del_p.E391del NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 504 protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding skin(1) 1 AGGCAAAACAGAGGAGGCTGGCA 0.547 CPVL 54504 broad.mit.edu 37 7 29152433 29152433 + Missense_Mutation SNP C T T TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr7:29152433C>T uc003szv.2 - 3 294 c.175G>A c.(175-177)GAA>AAA p.E59K CPVL_uc003szw.2_Missense_Mutation_p.E59K|CPVL_uc003szx.2_Missense_Mutation_p.E59K NM_031311 NP_112601 Q9H3G5 CPVL_HUMAN serine carboxypeptidase vitellogenic-like 59 proteolysis protein binding|serine-type carboxypeptidase activity ovary(2) 2 AAACTCAATTCTCTTCCTAGT 0.418 MYO1G 64005 broad.mit.edu 37 7 45016656 45016656 + Missense_Mutation SNP C T T TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr7:45016656C>T uc003tmh.2 - 2 254 c.110G>A c.(109-111)CGC>CAC p.R37H MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Intron|MYO1G_uc003tmi.1_5'UTR|MYO1G_uc003tmj.2_5'UTR NM_033054 NP_149043 B0I1T2 MYO1G_HUMAN myosin IG 37 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|ovary(1)|pancreas(1) 4 GGTGTAGATGCGGCCCTTCTC 0.637 EGFR 1956 broad.mit.edu 37 7 55221822 55221822 + Missense_Mutation SNP C T T rs149840192 TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr7:55221822C>T uc003tqk.2 + 7 1112 c.866C>T c.(865-867)GCC>GTC p.A289V EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 289 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGCTTTGGTGCCACCTGCGTG 0.592 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) POM121 9883 broad.mit.edu 37 7 72413475 72413475 + Silent SNP G A A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr7:72413475G>A uc003twk.2 + 11 2943 c.2943G>A c.(2941-2943)GGG>GGA p.G981G POM121_uc003twj.2_Silent_p.G716G|POM121_uc010lam.1_Silent_p.G716G NM_172020 NP_742017 Q96HA1 P121A_HUMAN nuclear pore membrane protein 121 981 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) AGCCACCGGGGGCCGCCAAGC 0.652 ZC3HAV1L 92092 broad.mit.edu 37 7 138719356 138719356 + Missense_Mutation SNP A G G TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr7:138719356A>G uc003vum.1 - 2 446 c.434T>C c.(433-435)CTT>CCT p.L145P NM_080660 NP_542391 Q96H79 ZCCHL_HUMAN zinc finger CCCH-type, antiviral 1-like 145 0 GAGACCAAAAAGTCCATGGCT 0.483 RP1L1 94137 broad.mit.edu 37 8 10467546 10467546 + Silent SNP C T T TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr8:10467546C>T uc003wtc.2 - 4 4291 c.4062G>A c.(4060-4062)GCG>GCA p.A1354A NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1354 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) cctctaactgcgcctcttctt 0.179 CDC37L1 55664 broad.mit.edu 37 9 4679887 4679887 + Silent SNP C G G TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr9:4679887C>G uc003zio.2 + 1 330 c.120C>G c.(118-120)GGC>GGG p.G40G NM_017913 NP_060383 Q7L3B6 CD37L_HUMAN cell division cycle 37 homolog (S. 40 Self-association. cytoplasm 0 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0318) AGCTGCCAGGCGGCGGCGCCC 0.682 OREG0019085 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KIAA2026 158358 broad.mit.edu 37 9 5922764 5922764 + Missense_Mutation SNP G T T TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr9:5922764G>T uc003zjq.3 - 8 3448 c.3232C>A c.(3232-3234)CTT>ATT p.L1078I KIAA2026_uc010mht.2_Missense_Mutation_p.L253I NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 1078 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) CTATTTTGAAGATCTATTGGC 0.418 C9orf131 138724 broad.mit.edu 37 9 35044886 35044886 + Missense_Mutation SNP T C C TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr9:35044886T>C uc003zvw.2 + 2 2289 c.2260T>C c.(2260-2262)TGC>CGC p.C754R C9orf131_uc003zvu.2_Missense_Mutation_p.C706R|C9orf131_uc003zvv.2_Missense_Mutation_p.C681R|C9orf131_uc003zvx.2_Missense_Mutation_p.C719R NM_203299 NP_976044 Q5VYM1 CI131_HUMAN hypothetical protein LOC138724 isoform A 754 0 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) GGGAGTAACGTGCCCAGGGGT 0.587 Unknown 0 broad.mit.edu 37 9 43915893 43915893 + Missense_Mutation SNP G C C rs143747399 by1000genomes TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr9:43915893G>C uc004adb.2 + 4 415 c.390G>C c.(388-390)ATG>ATC p.M130I RecName: Full=Contactin-associated protein-like 3B.; Flags: Fragment; CTGCTGTCATGGGAGGTAACA 0.433 FBP1 2203 broad.mit.edu 37 9 97380079 97380079 + Missense_Mutation SNP C T T TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chr9:97380079C>T uc004auw.3 - 3 728 c.397G>A c.(397-399)GTT>ATT p.V133I FBP1_uc010mrl.2_Missense_Mutation_p.V133I NM_000507 NP_000498 P09467 F16P1_HUMAN fructose-1,6-bisphosphatase 1 133 gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding 0 Acute lymphoblastic leukemia(62;0.136) Adenosine monophosphate(DB00131) ATGGTTCCAACGGACACAAGG 0.388 ZFX 7543 broad.mit.edu 37 X 24229156 24229156 + Missense_Mutation SNP A C C TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chrX:24229156A>C uc004dbf.2 + 9 2339 c.2081A>C c.(2080-2082)CAT>CCT p.H694P ZFX_uc004dbe.2_3'UTR|ZFX_uc011mjv.1_Missense_Mutation_p.H733P|ZFX_uc010nfz.2_Missense_Mutation_p.H350P NM_003410 NP_003401 P17010 ZFX_HUMAN zinc finger protein, X-linked 694 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(2) 2 CAGTGTAGACATTGTGACTTT 0.433 HDAC6 10013 broad.mit.edu 37 X 48681101 48681101 + Silent SNP A C C TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chrX:48681101A>C uc011mmi.1 + 24 2504 c.2409A>C c.(2407-2409)CCA>CCC p.P803P HDAC6_uc004dks.1_Silent_p.P803P|HDAC6_uc010nig.1_Silent_p.P651P|HDAC6_uc004dkt.1_Silent_p.P803P|HDAC6_uc011mmk.1_Silent_p.P784P|HDAC6_uc004dkv.1_Silent_p.P451P|HDAC6_uc004dkw.1_Silent_p.P451P|HDAC6_uc004dkx.1_Silent_p.P166P NM_006044 NP_006035 Q9UBN7 HDAC6_HUMAN histone deacetylase 6 803 aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Vorinostat(DB02546) GAGACCCACCACCCCTGCTGA 0.587 IL1RAPL2 26280 broad.mit.edu 37 X 105011638 105011638 + Missense_Mutation SNP C T T TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chrX:105011638C>T uc004elz.1 + 11 2801 c.2045C>T c.(2044-2046)ACC>ATC p.T682I NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 682 Cytoplasmic (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 CTTAGCTTTACCAGTGATATT 0.393 L1CAM 3897 broad.mit.edu 37 X 153141260 153141260 + Missense_Mutation SNP A C C TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 0bd9b573-712b-4da1-9c33-7b7f43d4af31 3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9 g.chrX:153141260A>C uc004fjb.2 - 1 140 c.32T>G c.(31-33)CTC>CGC p.L11R L1CAM_uc004fjc.2_Missense_Mutation_p.L11R|L1CAM_uc010nuo.2_Missense_Mutation_p.L11R|L1CAM_uc004fje.1_Missense_Mutation_p.L11R NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 11 axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCAGAGGAGGAGAGGCCACAC 0.627 OREG0003586 type=REGULATORY REGION|Gene=L1CAM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay