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 RPL22 6146 broad.mit.edu 37 1 6257784 6257785 + Frame_Shift_Ins INS - - T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr1:6257784_6257785insT uc001amd.3 - 1 90_91 c.44_45insA c.(43-45)aagfs p.K15fs RPL22_uc001ame.3_Frame_Shift_Ins_p.K15fs NM_000983 NP_000974 P35268 RL22_HUMAN Homo sapiens ribosomal protein L22 (RPL22), mRNA. 15 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit heparin binding|RNA binding|structural constituent of ribosome p.K15fs*5(2) kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 Ovarian(185;0.0634) all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) GAACTTGCTTCTTTTTTTTGCC 0.401 T RUNX1 """AML, CML""" ARHGEF10L 55160 broad.mit.edu 37 1 17990973 17990973 + Silent SNP C C T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr1:17990973C>T uc001ban.3 + 25 3051 c.2892C>T c.(2890-2892)ccC>ccT p.P964P ARHGEF10L_uc009vpe.1_Silent_p.P925P|ARHGEF10L_uc001bao.3_Silent_p.P925P|ARHGEF10L_uc001bap.3_Silent_p.P920P|ARHGEF10L_uc001baq.3_Silent_p.P725P|ARHGEF10L_uc010ocs.2_Silent_p.P737P|ARHGEF10L_uc001bar.3_Silent_p.P667P|ARHGEF10L_uc009vpf.3_Non-coding_Transcript NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA. 964 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity p.P964A(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) AGAGCCCTCCCGTGTGCCTGA 0.692 NBPF10 100132406 broad.mit.edu 37 1 145311839 145311839 + Missense_Mutation SNP A A T rs58277049 TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr1:145311839A>T uc021oun.1 + 0 NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021oul.1_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_5'UTR|NBPF10_uc010oyl.2_5'UTR|NBPF10_uc021oum.1_Intron|NBPF10_uc021ouo.1_5'Flank A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CAGGACTCACAGGATAGATGT 0.473 FLG 2312 broad.mit.edu 37 1 152276886 152276886 + Silent SNP G G A rs144901359 TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr1:152276886G>A uc001ezu.1 - 2 10512 c.10476C>T c.(10474-10476)gaC>gaT p.D3492D NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 3492 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.D3492Y(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGATTGTTCGTCATTACGAG 0.567 Ichthyosis LCE2C 353140 broad.mit.edu 37 1 152648777 152648777 + Missense_Mutation SNP C C A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr1:152648777C>A uc021ozc.1 + 0 286 c.286C>A c.(286-288)Cct>Act p.P96T LCE2C_uc001fah.3_Missense_Mutation_p.P96T NM_178429 NP_848516 Q5TA81 LCE2C_HUMAN Homo sapiens late cornified envelope 2C (LCE2C), mRNA. 96 Cys-rich. keratinization endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 13 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGAGAGTGAACCTTCTGGGGG 0.662 NUP210L 91181 broad.mit.edu 37 1 154062058 154062058 + Nonsense_Mutation SNP G G A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr1:154062058G>A uc001fdw.3 - 15 2272 c.2200C>T c.(2200-2202)Cga>Tga p.R734* NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Nonsense_Mutation_p.R734* NM_207308 NP_997191 Q5VU65 P210L_HUMAN Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA. 734 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TTTCCAATTCGGAATGTGAGA 0.423 ARHGAP30 257106 broad.mit.edu 37 1 161023102 161023102 + Missense_Mutation SNP C C T rs149577194 TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr1:161023102C>T uc001fxl.3 - 5 956 c.610G>A c.(610-612)Gtg>Atg p.V204M ARHGAP30_uc001fxk.3_Missense_Mutation_p.V204M|ARHGAP30_uc001fxm.3_Missense_Mutation_p.V50M|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.V50M NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA. 204 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) ATGAACTCCACGACGATGGAT 0.562 NLRP3 114548 broad.mit.edu 37 1 247607348 247607348 + Missense_Mutation SNP C C T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr1:247607348C>T uc001icr.3 + 8 2882 c.2744C>T c.(2743-2745)aCg>aTg p.T915M NLRP3_uc001ics.3_Missense_Mutation_p.T858M|NLRP3_uc001icu.3_Missense_Mutation_p.T915M|NLRP3_uc001icw.3_Missense_Mutation_p.T858M|NLRP3_uc001icv.3_Missense_Mutation_p.T801M|NLRP3_uc010pyw.2_Missense_Mutation_p.T893M NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 915 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.T915K(4) NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CAGAATCTCACGCACCTTTAC 0.512 PTEN 5728 broad.mit.edu 37 10 89720738 89720738 + Frame_Shift_Del DEL G G - TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr10:89720738delG uc001kfb.3 + 7 1921 c.889delG c.(889-891)gatfs p.D297fs PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 297 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.C296fs*1(1)|p.G165_*404del(1)|p.C296fs*11(1)|p.G165_K342del(1)|p.C296*(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AAGTCTATGTGATCAAGAAAT 0.318 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) OR8K3 219473 broad.mit.edu 37 11 56086620 56086620 + Missense_Mutation SNP G G T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr11:56086620G>T uc010rjf.2 + 0 838 c.838G>T c.(838-840)Gtt>Ttt p.V280F NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA. 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) TTACACCCTGGTTATCCCCAT 0.378 OR10W1 81341 broad.mit.edu 37 11 58034677 58034677 + Missense_Mutation SNP C C A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr11:58034677C>A uc001nmq.1 - 0 1056 c.654G>T c.(652-654)aaG>aaT p.K218N NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA. 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K218N(4) kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1) 26 Breast(21;0.0589) CCGAGTGGATCTTGAGCAGAG 0.572 OR4D5 219875 broad.mit.edu 37 11 123811000 123811000 + Missense_Mutation SNP G G A rs142766960 TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr11:123811000G>A uc001pzk.1 + 0 677 c.677G>A c.(676-678)cGa>cAa p.R226Q NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA. 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GTCATGCTCCGAAGCCACTCA 0.507 LRIG3 121227 broad.mit.edu 37 12 59272793 59272793 + Silent SNP G G T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr12:59272793G>T uc001sqr.3 - 13 2142 c.1896C>A c.(1894-1896)ccC>ccA p.P632P LRIG3_uc009zqh.3_Silent_p.P572P|LRIG3_uc010ssh.2_Non-coding_Transcript NM_153377 NP_700356 Q6UXM1 LRIG3_HUMAN Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA. 632 Ig-like C2-type 2. integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) AGGCTATCTGGGGGGCTGGGT 0.597 T ROS1 NSCLC NAV3 89795 broad.mit.edu 37 12 78582438 78582438 + Missense_Mutation SNP A A C TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr12:78582438A>C uc001syp.3 + 32 6109 c.5936A>C c.(5935-5937)gAc>gCc p.D1979A NAV3_uc001syo.3_Missense_Mutation_p.D1957A|NAV3_uc010sub.2_Missense_Mutation_p.D1436A|NAV3_uc009zsf.3_Missense_Mutation_p.D788A NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN Homo sapiens neuron navigator 3 (NAV3), mRNA. 1979 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CTGAGCTCTGACTGCATTGCT 0.388 HNSCC(70;0.22) PLEKHG7 440107 broad.mit.edu 37 12 93148040 93148040 + Missense_Mutation SNP C C T rs115752910 by1000genomes TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr12:93148040C>T uc001tcj.2 + 6 720 c.490_splice c.e6+1 p.R164_splice NM_001004330 NP_001004330 Q6ZR37 PKHG7_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 7 (PLEKHG7), mRNA. 164 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1) 17 AAAGTCCATCCGTAAGTCCCT 0.438 STAB2 55576 broad.mit.edu 37 12 104014256 104014256 + Silent SNP T T G TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr12:104014256T>G uc001tjw.3 + 3 528 c.342T>G c.(340-342)ggT>ggG p.G114G NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 114 EGF-like 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.G114C(1) NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AGTGCCCAGGTGGAGCGGGGT 0.493 GPR133 283383 broad.mit.edu 37 12 131622720 131622720 + Silent SNP G G A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr12:131622720G>A uc010tbm.2 + 24 3130 c.2571G>A c.(2569-2571)tcG>tcA p.S857S GPR133_uc001uit.4_Silent_p.S825S|GPR133_uc009zyo.3_Silent_p.S107S|GPR133_uc009zyp.3_Non-coding_Transcript NM_198827 NP_942122 Q6QNK2 GP133_HUMAN Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA. 825 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) AGGTCTGGTCGCTCACGAGCA 0.597 BIVM-ERCC5 2073 broad.mit.edu 37 13 103474461 103474462 + Frame_Shift_Ins INS - - A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr13:103474461_103474462insA uc001vpu.2 + 4 975_976 c.853_854insA c.(853-855)tatfs p.Y285fs BIVM-ERCC5_uc001vps.3_Frame_Shift_Ins_p.Y285fs|BIVM-ERCC5_uc010agc.3_Frame_Shift_Ins_p.Y56fs|BIVM-ERCC5_uc001vpv.3_Frame_Shift_Ins_p.Y56fs NM_001204425 NP_001191354 Q59FZ7 Q59FZ7_HUMAN Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA. 256 nucleotide-excision repair nucleus endonuclease activity|single-stranded DNA binding AGGATGCTCTTATGTTCTATAT 0.361 FUT8 2530 broad.mit.edu 37 14 66028372 66028372 + Nonsense_Mutation SNP C C T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr14:66028372C>T uc001xin.3 + 2 1818 c.91C>T c.(91-93)Cga>Tga p.R31* FUT8_uc001xio.3_Nonsense_Mutation_p.R31*|FUT8_uc010tsp.2_Intron|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Nonsense_Mutation_p.R31*|FUT8_uc001xiq.3_Intron NM_178155 NP_004471 Q9BYC5 FUT8_HUMAN Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA. 31 in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) TCACTTGGTACGAGATAATGA 0.458 AK7 122481 broad.mit.edu 37 14 96917806 96917806 + Missense_Mutation SNP T T C TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr14:96917806T>C uc001yfn.2 + 9 1041 c.997T>C c.(997-999)Ttt>Ctt p.F333L NM_152327 NP_689540 Q96M32 KAD7_HUMAN Homo sapiens adenylate kinase 7 (AK7), mRNA. 333 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) GGAAGCGCTCTTTGTGAAGGA 0.368 GOLGA8C 729786 broad.mit.edu 37 15 20776109 20776109 + Missense_Mutation SNP T T A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr15:20776109T>A uc010tzc.1 + 12 1620 c.605T>A c.(604-606)cTg>cAg p.L202Q JA429730_uc021sfa.1_5'Flank Homo sapiens golgin A8 family, member C (GOLGA8C), non-coding RNA. haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|ovary(1)|skin(1) 8 TAGGAGCGCCTGGAAGCTGCC 0.637 CREBBP 1387 broad.mit.edu 37 16 3842056 3842056 + Nonsense_Mutation SNP C C T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr16:3842056C>T uc002cvv.3 - 4 1460 c.1256G>A c.(1255-1257)tGg>tAg p.W419* CREBBP_uc002cvw.3_Intron NM_004380 NP_004371 Q92793 CBP_HUMAN Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA. 419 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GCAGTTCTTCCAATGAGAGAT 0.428 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome CIITA 4261 broad.mit.edu 37 16 11000852 11000852 + Silent SNP C C T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr16:11000852C>T uc002daj.4 + 10 1639 c.1506C>T c.(1504-1506)ttC>ttT p.F502F CIITA_uc002dai.4_Silent_p.F501F|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Silent_p.F501F|CIITA_uc002dah.2_Silent_p.F453F|CIITA_uc010bup.1_Intron NM_000246 NP_000237 P33076 C2TA_HUMAN Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA. 501 NACHT. interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 TAGACGGCTTCGAGGAGCTGG 0.647 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ PRKCB 5579 broad.mit.edu 37 16 24166139 24166139 + Silent SNP G G A rs141827066 TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr16:24166139G>A uc002dmd.3 + 9 1397 c.1200G>A c.(1198-1200)ccG>ccA p.P400P PRKCB_uc002dme.3_Silent_p.P400P NM_212535 NP_997700 P05771 KPCB_HUMAN Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA. 400 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 p.P400P(4) central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) CTGGGAAGCCGCCCTTCCTGA 0.567 LCMT1 51451 broad.mit.edu 37 16 25143735 25143735 + Missense_Mutation SNP G G A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr16:25143735G>A uc002dnx.1 + 2 376 c.218G>A c.(217-219)cGa>cAa p.R73Q LCMT1_uc002dny.1_Missense_Mutation_p.R73Q NM_016309 NP_057393 Q9UIC8 LCMT1_HUMAN Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA. 73 protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity GBM - Glioblastoma multiforme(48;0.0336) L-Leucine(DB00149) TATTTTGCTCGAGTCCATGGT 0.488 SLC6A10P 386757 broad.mit.edu 37 16 32890622 32890622 + Missense_Mutation SNP T T G TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr16:32890622T>G uc002edh.1 - 4 440 c.264A>C c.(262-264)aaA>aaC p.K88N SLC6A10P_uc002edi.1_Non-coding_Transcript Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA. CGTTGGTGTTTTTGTAGACCA 0.617 MYH2 4620 broad.mit.edu 37 17 10427836 10427836 + Missense_Mutation SNP C C T rs147813930 TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr17:10427836C>T uc010coi.3 - 34 5250 c.5122G>A c.(5122-5124)Gca>Aca p.A1708T AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.A1708T|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1708 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.I1707I(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TCCTGTTCTGCGATTTTTCTG 0.547 KRT16 3868 broad.mit.edu 37 17 39767641 39767641 + Missense_Mutation SNP C C T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr17:39767641C>T uc002hxg.4 - 2 866 c.727G>A c.(727-729)Ggc>Agc p.G243S JUP_uc010wfs.2_Intron NM_005557 NP_005548 P08779 K1C16_HUMAN Homo sapiens keratin 16 (KRT16), mRNA. 243 Coil 1B.|Rod. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) TCCTTCAGGCCTTCGATCTGC 0.642 KIF2B 84643 broad.mit.edu 37 17 51900949 51900949 + Silent SNP C C T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr17:51900949C>T uc002iua.2 + 0 711 c.555C>T c.(553-555)taC>taT p.Y185Y KIF2B_uc010wna.1_Non-coding_Transcript NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN Homo sapiens kinesin family member 2B (KIF2B), mRNA. 185 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 NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 ACCCCAACTACGAAATCATGC 0.562 ANKFN1 162282 broad.mit.edu 37 17 54452045 54452045 + Missense_Mutation SNP G G A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr17:54452045G>A uc002iun.1 + 6 924 c.889G>A c.(889-891)Gtc>Atc p.V297I NM_153228 NP_694960 Q8N957 ANKF1_HUMAN Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA. 297 Fibronectin type-III. NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 GCCTCTTAGCGTCAATGCAGC 0.458 CEP112 201134 broad.mit.edu 37 17 63848135 63848135 + Silent SNP C C T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr17:63848135C>T uc002jfl.3 - 20 2400 c.2181G>A c.(2179-2181)gaG>gaA p.E727E CEP112_uc010deo.3_Silent_p.E469E|CEP112_uc002jfm.3_Silent_p.E727E|CEP112_uc010dep.2_Silent_p.E685E NM_145036 NP_659473 Q8N8E3 CE112_HUMAN Homo sapiens centrosomal protein 112kDa (CEP112), transcript variant 1, mRNA. 727 centrosome NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 28 GAACCTGGGCCTCCATGTCGG 0.418 MC5R 4161 broad.mit.edu 37 18 13826256 13826256 + Silent SNP C C T rs45575841 byFrequency TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr18:13826256C>T uc010xaf.2 + 0 714 c.492C>T c.(490-492)gcC>gcT p.A164A NM_005913 NP_005904 P33032 MC5R_HUMAN Homo sapiens melanocortin 5 receptor (MC5R), mRNA. 164 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 CCATCATCGCCGGCATCTGGG 0.572 CERS4 79603 broad.mit.edu 37 19 8320541 8320541 + Silent SNP C C G TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr19:8320541C>G uc002mjg.3 + 4 662 c.342C>G c.(340-342)acC>acG p.T114T CERS4_uc002mji.3_5'UTR|CERS4_uc010dvz.3_Silent_p.T114T NM_024552 NP_078828 Q9HA82 CERS4_HUMAN Homo sapiens ceramide synthase 4 (CERS4), mRNA. 114 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity TGCAGCAGACCCAGCGATGGT 0.652 CYP4F2 8529 broad.mit.edu 37 19 15990424 15990424 + Missense_Mutation SNP G G A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr19:15990424G>A uc002nbs.1 - 10 1354 c.1304C>T c.(1303-1305)cCg>cTg p.P435L CYP4F2_uc010xot.1_Missense_Mutation_p.P286L NM_001082 NP_001073 P78329 CP4F2_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA. 435 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CTCAGGGTCCGGCCACACAGC 0.567 TAF1B 9014 broad.mit.edu 37 2 9994457 9994457 + Silent SNP C C T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr2:9994457C>T uc002qzz.3 + 4 406 c.306C>T c.(304-306)aaC>aaT p.N102N TAF1B_uc010exc.2_Silent_p.N102N|TAF1B_uc002qzy.4_Silent_p.N102N|TAF1B_uc010yja.2_5'UTR|TAF1B_uc010exd.3_5'UTR NM_005680 NP_005671 Q53T94 TAF1B_HUMAN Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa (TAF1B), mRNA. 102 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CACCTTAGAACGATGTTTTAC 0.408 OTOF 9381 broad.mit.edu 37 2 26705441 26705441 + Missense_Mutation SNP T T C TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr2:26705441T>C uc002rhk.3 - 13 1539 c.1412A>G c.(1411-1413)aAg>aGg p.K471R NM_194248 NP_919224 Q9HC10 OTOF_HUMAN Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA. 471 C2 2. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding p.Q470*(1) NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATAGCTGCTCTTCTGCACTGA 0.577 BIRC6 57448 broad.mit.edu 37 2 32695356 32695356 + Missense_Mutation SNP T T A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr2:32695356T>A uc010ezu.3 + 30 6602 c.6468T>A c.(6466-6468)caT>caA p.H2156Q NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA. 2156 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TACCCATGCATAGGAGGACAG 0.318 TET3 200424 broad.mit.edu 37 2 74275488 74275489 + Frame_Shift_Del DEL AC AC - TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr2:74275488_74275489delAC uc002skb.4 + 0 2039_2040 c.2039_2040delAC c.(2038-2040)gacfs p.D680fs TET3_uc010fez.2_Frame_Shift_Del_p.D680fs NM_144993 NP_659430 O43151 TET3_HUMAN Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA. 680 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AGTCTGCTGGACACACCTGCCA 0.604 POTEE 445582 broad.mit.edu 37 2 132021710 132021710 + Silent SNP C C T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr2:132021710C>T uc002tsn.2 + 14 2734 c.2682C>T c.(2680-2682)acC>acT p.T894T PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.T494T|POTEE_uc002tsl.2_Silent_p.T476T|POTEE_uc010fmy.1_Silent_p.T358T NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA. 894 Actin-like. ATP binding AGATCCTCACCGAGCGTGGCT 0.587 LOC401010 401010 broad.mit.edu 37 2 132201557 132201557 + Missense_Mutation SNP C C T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr2:132201557C>T uc002tst.2 - 0 911 c.445G>A c.(445-447)Gta>Ata p.V149I Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA. GTGCTCCATACGACCACCATT 0.602 MYO1B 4430 broad.mit.edu 37 2 192275792 192275792 + Missense_Mutation SNP T T C TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr2:192275792T>C uc010fsg.2 + 27 3022 c.2767_splice c.e27-1 p.C923_splice MYO1B_uc002usq.2_Splice_Site_p.C865_splice|MYO1B_uc002usr.2_Splice_Site_p.C923_splice|MYO1B_uc002usu.2_Splice_Site_p.C168_splice NM_001130158 NP_001155291 O43795 MYO1B_HUMAN Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA. 923 myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) TATCTCACAGTGTAAAAAATA 0.308 MATN4 8785 broad.mit.edu 37 20 43929967 43929967 + Missense_Mutation SNP A A G TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr20:43929967A>G uc002xnn.2 - 3 947 c.760T>C c.(760-762)Tgc>Cgc p.C254R MATN4_uc002xnp.2_Intron|MATN4_uc002xno.2_Intron|MATN4_uc010zwr.1_Missense_Mutation_p.C202R|MATN4_uc002xnr.1_Missense_Mutation_p.C254R NM_003833 NP_003824 O95460 MATN4_HUMAN Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA. 295 EGF-like 1; incomplete. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) TCACCCCTGCAGCTCCTCTGG 0.587 OREG0025977 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) OPRL1 4987 broad.mit.edu 37 20 62724089 62724089 + Missense_Mutation SNP C C T rs148535906 TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr20:62724089C>T uc002yic.3 + 2 435 c.16C>T c.(16-18)Ccc>Tcc p.P6S OPRL1_uc002yid.3_Missense_Mutation_p.P6S|OPRL1_uc021wgs.1_Missense_Mutation_p.P6S|OPRL1_uc002yif.4_Missense_Mutation_p.P6S NM_182647 NP_872588 P41146 OPRX_HUMAN Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA. 6 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) GCCCCTCTTCCCCGCGCCGTT 0.632 KCNJ15 3772 broad.mit.edu 37 21 39671533 39671533 + Missense_Mutation SNP C C T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr21:39671533C>T uc021wjc.1 + 0 350 c.350C>T c.(349-351)gCg>gTg p.A117V KCNJ15_uc002ywv.3_Missense_Mutation_p.A117V|KCNJ15_uc002yww.3_Missense_Mutation_p.A117V|KCNJ15_uc002ywx.3_Missense_Mutation_p.A117V NM_170737 NP_733933 Q99712 IRK15_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA. 117 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 CTCACTGGGGCGTTTCTCTTT 0.493 UMODL1 89766 broad.mit.edu 37 21 43522316 43522316 + Missense_Mutation SNP C C A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr21:43522316C>A uc002zag.1 + 7 1227 c.1227C>A c.(1225-1227)caC>caA p.H409Q UMODL1_uc002zad.1_Missense_Mutation_p.H337Q|UMODL1_uc002zae.1_Missense_Mutation_p.H337Q|UMODL1_uc002zaf.1_Missense_Mutation_p.H409Q|UMODL1_uc010gow.1_Missense_Mutation_p.H201Q|UMODL1_uc002zai.1_Missense_Mutation_p.H60Q|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Missense_Mutation_p.H60Q|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.H154Q|C21orf128_uc002zak.2_3'UTR NM_173568 NP_001186456 Q5DID0 UROL1_HUMAN Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA. 409 SEA 1. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 TTGTAAACCACAACCTGACGG 0.428 FGD5 152273 broad.mit.edu 37 3 14862751 14862751 + Missense_Mutation SNP T T A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr3:14862751T>A uc003bzc.3 + 0 2283 c.2173T>A c.(2173-2175)Tat>Aat p.Y725N FGD5_uc011avk.2_Missense_Mutation_p.Y725N NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA. 725 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 CCTCATCTTTTATAGAGATGG 0.577 DAG1 1605 broad.mit.edu 37 3 49568839 49568839 + Missense_Mutation SNP A A G TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr3:49568839A>G uc021wxz.1 + 2 1364 c.895A>G c.(895-897)Atc>Gtc p.I299V DAG1_uc021wya.1_Missense_Mutation_p.I299V|DAG1_uc021wyb.1_Missense_Mutation_p.I299V|DAG1_uc021wyc.1_Missense_Mutation_p.I299V|DAG1_uc021wyd.1_Missense_Mutation_p.I299V|DAG1_uc021wye.1_Missense_Mutation_p.I299V|DAG1_uc021wyf.1_Missense_Mutation_p.I299V|DAG1_uc021wyg.1_Missense_Mutation_p.I299V|DAG1_uc021wyh.1_Missense_Mutation_p.I299V|DAG1_uc021wyi.1_Missense_Mutation_p.I299V|DAG1_uc021wyj.1_Missense_Mutation_p.I299V|DAG1_uc021wyk.1_Missense_Mutation_p.I299V|DAG1_uc003cxc.4_Missense_Mutation_p.I299V NM_001177643 NP_001171114 Q14118 DAG1_HUMAN Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA. 299 Required for laminin recognition. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GGGTTGGCACATCGCCAATAA 0.597 CASR 846 broad.mit.edu 37 3 121980530 121980530 + Silent SNP C C T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr3:121980530C>T uc003eew.4 + 3 1086 c.648C>T c.(646-648)gaC>gaT p.D216D CASR_uc003eev.4_Silent_p.D216D NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 216 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity p.D216D(2) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CAGCTGATGACGACTATGGGC 0.537 ADCY5 111 broad.mit.edu 37 3 123038564 123038564 + Missense_Mutation SNP C C T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr3:123038564C>T uc003egh.2 - 9 2213 c.2213G>A c.(2212-2214)cGc>cAc p.R738H ADCY5_uc021xdd.1_Missense_Mutation_p.R388H|ADCY5_uc003egg.2_Missense_Mutation_p.R371H|ADCY5_uc003egi.1_Missense_Mutation_p.R297H NM_183357 NP_899200 O95622 ADCY5_HUMAN Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA. 738 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) GAGGAACTTGCGGACGTGCTC 0.587 PIGZ 80235 broad.mit.edu 37 3 196675037 196675037 + Missense_Mutation SNP C C T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr3:196675037C>T uc003fxh.3 - 2 878 c.731G>A c.(730-732)cGt>cAt p.R244H NM_025163 NP_079439 Q86VD9 PIGZ_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA. 244 GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 14 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) TGTGGCTCCACGAGTGCCCCA 0.637 ZNF718 255403 broad.mit.edu 37 4 155414 155414 + Silent SNP C C T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr4:155414C>T uc003fzw.4 + 1 867 c.278C>T c.(277-279)gCg>gTg p.A93V ZNF718_uc003fzt.4_Silent_p.C313C|ZNF718_uc003fzu.1_Intron|ZNF718_uc010iaz.3_Non-coding_Transcript NM_001039127 NP_001034216 Q3SXZ3 ZN718_HUMAN Homo sapiens zinc finger protein 718 (ZNF718), mRNA. 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) CCTTCTCATGCGAAGAATGTG 0.373 RBM47 54502 broad.mit.edu 37 4 40440359 40440359 + Silent SNP G G A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr4:40440359G>A uc003gvc.2 - 3 1262 c.552C>T c.(550-552)taC>taT p.Y184Y RBM47_uc003gvd.2_Silent_p.Y184Y|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.Y146Y|RBM47_uc003gvg.1_Silent_p.Y184Y NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA. 184 RRM 2. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 CCGCGCTGGCGTAGACGATCA 0.647 ALB 213 broad.mit.edu 37 4 74283995 74283995 + Missense_Mutation SNP T T A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr4:74283995T>A uc003hgs.4 + 11 1692 c.1619T>A c.(1618-1620)cTt>cAt p.L540H ALB_uc011cbe.2_Missense_Mutation_p.L219H|ALB_uc003hgw.4_Missense_Mutation_p.L348H|ALB_uc011cbf.2_Missense_Mutation_p.L430H NM_000477 NP_000468 P02768 ALBU_HUMAN Homo sapiens albumin (ALB), mRNA. 540 Albumin 3. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) ATATGCACACTTTCTGAGAAG 0.403 PPEF2 5470 broad.mit.edu 37 4 76793227 76793227 + Missense_Mutation SNP C C T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr4:76793227C>T uc003hix.3 - 12 1957 c.1600G>A c.(1600-1602)Gtg>Atg p.V534M PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.V534M NM_006239 NP_006230 O14830 PPE2_HUMAN Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA. 534 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TGATACTGCACAATATGTGGG 0.428 ADAMTS12 81792 broad.mit.edu 37 5 33596125 33596125 + Silent SNP G G A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr5:33596125G>A uc003jia.1 - 16 2731 c.2568C>T c.(2566-2568)cgC>cgT p.R856R ADAMTS12_uc010iuq.1_Silent_p.R771R NM_030955 NP_112217 P58397 ATS12_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA. 856 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TCACCATCCCGCGGCCCTTCT 0.512 HNSCC(64;0.19) PCDHAC2 56139 broad.mit.edu 37 5 140237259 140237259 + Silent SNP G G A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr5:140237259G>A uc003lhx.2 + 0 1626 c.1626G>A c.(1624-1626)ccG>ccA p.P542P PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Silent_p.P542P NM_018901 NP_061724 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA. 557 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGGCGTGCCGCCTCTGGGCA 0.697 PCDHB5 26167 broad.mit.edu 37 5 140517047 140517052 + In_Frame_Del DEL GGCCCA GGCCCA - TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr5:140517047_140517052delGGCCCA uc003liq.3 + 0 2248_2253 c.2031_2036delGGCCCA c.(2029-2037)ccggcccag>ccg p.AQ680del NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN Homo sapiens protocadherin beta 5 (PCDHB5), mRNA. 680 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGCGGCCCCGGCCCAGGCCCAGGCC 0.694 RIPK1 8737 broad.mit.edu 37 6 3104537 3104537 + Missense_Mutation SNP C C T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr6:3104537C>T uc010jni.3 + 7 1226 c.994C>T c.(994-996)Cgg>Tgg p.R332W RIPK1_uc003muv.4_Missense_Mutation_p.R169W|RIPK1_uc003mux.3_Missense_Mutation_p.R332W|RIPK1_uc011dhs.2_Missense_Mutation_p.R286W NM_003804 NP_003795 Q13546 RIPK1_HUMAN Homo sapiens receptor (TNFRSF)-interacting serine-threonine kinase 1 (RIPK1), mRNA. 332 Interaction with SQSTM1. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 Ovarian(93;0.0386) all_hematologic(90;0.0895) ACCTTCAAGCCGGTCAAATTC 0.348 OR2H1 26716 broad.mit.edu 37 6 29430405 29430405 + Missense_Mutation SNP G G A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr6:29430405G>A uc003nmi.3 + 2 1302 c.859G>A c.(859-861)Gta>Ata p.V287I OR2H1_uc003nmj.1_Missense_Mutation_p.V287I|OR2H1_uc010jri.2_Missense_Mutation_p.V209I|OR2H1_uc021ytr.1_Missense_Mutation_p.V287I NM_030883 NP_112145 Q9GZK4 OR2H1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA. 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 TAACCCTCTCGTATACACCCT 0.493 GABBR1 2550 broad.mit.edu 37 6 29599228 29599228 + Silent SNP G G A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr6:29599228G>A uc003nmt.4 - 2 570 c.234C>T c.(232-234)gtC>gtT p.V78V GABBR1_uc003nmu.4_Silent_p.V78V|GABBR1_uc011dlr.2_5'UTR|GABBR1_uc011dls.1_Silent_p.V78V NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA. 78 Sushi 1. gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) GGCACTTGCGGACCTTGGGCC 0.602 HLA-DQB2 3120 broad.mit.edu 37 6 32729588 32729588 + Silent SNP G G A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr6:32729588G>A uc003obz.2 - 1 296 c.213C>T c.(211-213)gaC>gaT p.D71D HLA-DQB2_uc003oby.4_Silent_p.D71D NM_001198858 NP_001185787 Q5SR06 Q5SR06_HUMAN Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA. 71 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex p.S70S(1) endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 ACTCCCCAACGTCGCTGTCGA 0.607 TNRC18 84629 broad.mit.edu 37 7 5417608 5417608 + Missense_Mutation SNP G G A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr7:5417608G>A uc003soi.4 - 5 2549 c.2200C>T c.(2200-2202)Cgg>Tgg p.R734W NM_001080495 NP_001073964 O15417 TNC18_HUMAN Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA. 734 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CGTTCCTCCCGGTGTCTGGCC 0.682 RAMP3 10268 broad.mit.edu 37 7 45216987 45216987 + Silent SNP C C T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr7:45216987C>T uc003tnb.3 + 1 199 c.138C>T c.(136-138)gaC>gaT p.D46D NM_005856 NP_005847 O60896 RAMP3_HUMAN Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA. 46 intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane|lysosome protein transporter activity breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1) 11 Pramlintide(DB01278) CTTTCGCAGACATGATGGGCA 0.607 EGFR 1956 broad.mit.edu 37 7 55221821 55221821 + Missense_Mutation SNP G G A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr7:55221821G>A uc003tqk.3 + 6 1111 c.865G>A c.(865-867)Gcc>Acc p.A289T EGFR_uc003tqh.3_Missense_Mutation_p.A289T|EGFR_uc003tqi.3_Missense_Mutation_p.A289T|EGFR_uc003tqj.3_Missense_Mutation_p.A289T|EGFR_uc022adm.1_Missense_Mutation_p.A289T|EGFR_uc010kzg.2_Missense_Mutation_p.A244T|EGFR_uc022adn.1_Missense_Mutation_p.A244T|EGFR_uc011kco.2_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 289 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.A289T(6)|p.V30_R297>G(5)|p.A289D(3) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 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) CAGCTTTGGTGCCACCTGCGT 0.592 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) EGFR 1956 broad.mit.edu 37 7 55249022 55249022 + Missense_Mutation SNP G G A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr7:55249022G>A uc003tqk.3 + 19 2566 c.2320G>A c.(2320-2322)Gtg>Atg p.V774M EGFR_uc022adm.1_Missense_Mutation_p.V774M|EGFR_uc010kzg.2_Missense_Mutation_p.V729M|EGFR_uc022adn.1_Missense_Mutation_p.V729M|EGFR_uc011kco.2_Missense_Mutation_p.V721M|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_Missense_Mutation_p.V9M NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 774 Protein kinase. 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.H773_V774insNPH(21)|p.P772_H773insPR(11)|p.V774M(9)|p.H773R(9)|p.H773_V774insH(5)|p.H773_V774insPH(4)|p.V774_C775insHV(4)|p.H773_V774insQ(2)|p.P772_H773insYNP(2)|p.H773_V774insGNPH(2)|p.P772_H773insX(2)|p.H773L(2)|p.V774L(2)|p.H773Y(2)|p.H773_V774insGH(1)|p.H773_V774insG(1)|p.P772_H773insV(1)|p.V774del(1)|p.P772_H773insDHP(1)|p.P772_H773insTHP(1)|p.P772_H773insDNP(1)|p.P772_H773insHV(1)|p.H773>NPY(1)|p.P772_H773insQV(1)|p.H773_V774>LM(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 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) CAACCCCCACGTGTGCCGCCT 0.632 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) PCLO 27445 broad.mit.edu 37 7 82582186 82582186 + Frame_Shift_Del DEL A A - TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr7:82582186delA uc003uhx.2 - 4 8372 c.8083delT c.(8083-8085)tccfs p.S2695fs PCLO_uc003uhv.2_Frame_Shift_Del_p.S2695fs|PCLO_uc010lec.3_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 2626 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATTGTTATGGAAATGCTGCTG 0.413 BAIAP2L1 55971 broad.mit.edu 37 7 97935824 97935824 + Missense_Mutation SNP C C G TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr7:97935824C>G uc003upj.3 - 10 1431 c.1168G>C c.(1168-1170)Ggt>Cgt p.G390R hCG_2023280_uc003upk.1_5'Flank NM_018842 NP_061330 Q9UHR4 BI2L1_HUMAN Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA. 390 SH3. filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1) 23 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) GGGAACCAACCCCTCCTACCG 0.572 MCM7 4176 broad.mit.edu 37 7 99694927 99694927 + Missense_Mutation SNP G G A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr7:99694927G>A uc003usw.1 - 9 1708 c.1198C>T c.(1198-1200)Cgc>Tgc p.R400C MCM7_uc003usv.1_Missense_Mutation_p.R224C|MCM7_uc003usx.1_Missense_Mutation_p.R224C NM_005916 NP_005907 P33993 MCM7_HUMAN Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA. 400 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding p.R400C(1)|p.R224C(1) endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) TACTTACTGCGAGGCGCCAGT 0.512 ASZ1 136991 broad.mit.edu 37 7 117020042 117020042 + Silent SNP T T C TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr7:117020042T>C uc003vjb.2 - 9 1068 c.1005A>G c.(1003-1005)gtA>gtG p.V335V ASZ1_uc011kno.1_Silent_p.V335V|ASZ1_uc011knp.1_Silent_p.V127V NM_130768 NP_570124 Q8WWH4 ASZ1_HUMAN Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA. 335 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) GTATCTCTTCTACCTGTAGTT 0.308 HIPK2 28996 broad.mit.edu 37 7 139416214 139416214 + Missense_Mutation SNP C C T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr7:139416214C>T uc003vvf.4 - 1 891 c.620G>A c.(619-621)cGa>cAa p.R207Q HIPK2_uc003vvd.4_Missense_Mutation_p.R207Q NM_022740 NP_073577 Q9H2X6 HIPK2_HUMAN Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA. 207 Interaction with DAXX.|Protein kinase.|Transcriptional corepression (By similarity). apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) AAACGTCCCTCGGCCCAAGAA 0.552 CLCN1 1180 broad.mit.edu 37 7 143048733 143048733 + Missense_Mutation SNP G G A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr7:143048733G>A uc003wcr.1 + 22 2729 c.2642G>A c.(2641-2643)cGc>cAc p.R881H CLCN1_uc011ktc.1_Missense_Mutation_p.R493H NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 881 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity p.L880L(1) breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GTGCAGCTCCGCCCTCCCCTT 0.537 KCNB2 9312 broad.mit.edu 37 8 73848914 73848914 + Missense_Mutation SNP C C T TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr8:73848914C>T uc003xzb.3 + 2 1912 c.1324C>T c.(1324-1326)Cgg>Tgg p.R442W NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 442 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GGCTCTTGAGCGGGCCAAAAG 0.443 KIFC2 90990 broad.mit.edu 37 8 145693119 145693119 + Missense_Mutation SNP T T C TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr8:145693119T>C uc003zcz.3 + 5 703 c.638T>C c.(637-639)cTg>cCg p.L213P CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank NM_145754 NP_665697 Q96AC6 KIFC2_HUMAN Homo sapiens kinesin family member C2 (KIFC2), mRNA. 213 Gln-rich. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1) 19 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) AAGCAGCAGCTGGAACAGCAG 0.642 OREG0019057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) BNC2 54796 broad.mit.edu 37 9 16419304 16419304 + Missense_Mutation SNP C C T rs143124811 byFrequency TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr9:16419304C>T uc003zml.3 - 6 3123 c.2983G>A c.(2983-2985)Ggg>Agg p.G995R BNC2_uc011lmw.2_Missense_Mutation_p.G900R|BNC2_uc003zmm.3_3'UTR|BNC2_uc011lmv.2_3'UTR|BNC2_uc003zmj.3_3'UTR|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.G782R NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN Homo sapiens basonuclin 2 (BNC2), mRNA. 995 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) TCACTCGCCCCGTCAATGTCA 0.592 TAF1L 138474 broad.mit.edu 37 9 32631824 32631824 + Missense_Mutation SNP G G A TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chr9:32631824G>A uc003zrg.1 - 0 3844 c.3754C>T c.(3754-3756)Cgg>Tgg p.R1252W AX747113_uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 1252 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.R1252W(2) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CGCTTAAGCCGCCTCAGTTGC 0.448 STAG2 10735 broad.mit.edu 37 X 123205046 123205047 + Frame_Shift_Del DEL TA TA - TCGA-06-0749-01A-01W-0348-08 TCGA-06-0749-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1121aced-04ae-4ba2-a467-c5b8445a0a76 87c88d13-a280-4497-9925-ed79bfa82db5 g.chrX:123205046_123205047delTA uc004eua.3 + 24 2810_2811 c.2406_2407delTA c.(2404-2409)attatgfs p.I802fs STAG2_uc004etz.4_Frame_Shift_Del_p.I802fs|STAG2_uc004eub.3_Frame_Shift_Del_p.I802fs|STAG2_uc004euc.3_Frame_Shift_Del_p.I802fs|STAG2_uc004eud.3_Frame_Shift_Del_p.I802fs|STAG2_uc004eue.3_Frame_Shift_Del_p.I802fs NM_001042749 NP_001036215 Q8N3U4 STAG2_HUMAN Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA. 802 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding p.Q801*(1) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 GCCATCAGATTATGTCAGGAGG 0.376