Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut NLRP7 199713 broad.mit.edu 37 19 55451248 55451248 + Silent SNP C C T TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr19:55451248C>T ENST00000588756.1 - 6 1425 c.939G>A c.(937-939)gcG>gcA p.A313A NLRP7_ENST00000592784.1_Silent_p.A313A|NLRP7_ENST00000590030.1_Silent_p.A313A|NLRP7_ENST00000340844.2_Silent_p.A313A|NLRP7_ENST00000328092.5_Silent_p.A313A|NLRP7_ENST00000448121.2_Silent_p.A313A|NLRP7_ENST00000446217.1_Silent_p.A341A Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 313 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TCGGCTGCTGCGCCAGGAGCT 0.622000 6 28 0 0 1 0 0 LTV1 84946 broad.mit.edu 37 6 144167303 144167303 + Nonsense_Mutation SNP C C A TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr6:144167303C>A ENST00000367576.5 + 3 385 c.251C>A c.(250-252)tCa>tAa p.S84* NM_032860.3 NP_116249.2 Q96GA3 LTV1_HUMAN LTV1 homolog (S. cerevisiae) 84 breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372) CTTATTCCCTCAAGTACCTTC 0.463000 4 32 0.150653 0.150653 1 1 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 3 51 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152326021 152326021 + Missense_Mutation SNP G G T TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr1:152326021G>T ENST00000388718.5 - 3 4313 c.4241C>A c.(4240-4242)tCc>tAc p.S1414Y FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1414 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGTTGTCCTGGACCCTCTCTG 0.512000 49 215 9.22156e-22 9.89961e-22 1 1 0 SLC13A2 9058 broad.mit.edu 37 17 26816242 26816242 + Missense_Mutation SNP G G A TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr17:26816242G>A ENST00000444914.3 + 2 533 c.113G>A c.(112-114)tGc>tAc p.C38Y SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000537681.1_5'UTR|SLC13A2_ENST00000314669.5_Missense_Mutation_p.C38Y NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 38 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) GAGGCCTACTGCGCGTATGCC 0.602000 12 37 0 0 1 0 0 TRAV26-1 0 broad.mit.edu 37 14 22592243 22592243 + RNA SNP G G A TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr14:22592243G>A ENST00000390455.3 + 0 537 CGTCAGAGTCGCACACTGGGA 0.532000 7 18 0 0 1 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303923 151303923 + Missense_Mutation SNP G G A TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chrX:151303923G>A ENST00000370323.4 - 4 486 c.170C>T c.(169-171)tCt>tTt p.S57F MAGEA10_ENST00000244096.3_Missense_Mutation_p.S57F|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 57 Poly-Ser. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) ggaggaggaagaggaggagga 0.562000 18 23 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79318298 79318298 + Missense_Mutation SNP T T C TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr9:79318298T>C ENST00000428286.1 - 9 8354 c.7154A>G c.(7153-7155)gAg>gGg p.E2385G PRUNE2_ENST00000376718.3_Missense_Mutation_p.E2744G Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2744 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GAACTCTGTCTCCTCCTCCAT 0.423000 3 35 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209788707 209788707 + Missense_Mutation SNP C C T TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr1:209788707C>T ENST00000391911.1 - 22 3817 c.3428G>A c.(3427-3429)cGc>cAc p.R1143H LAMB3_ENST00000356082.4_Missense_Mutation_p.R1143H|LAMB3_ENST00000367030.3_Missense_Mutation_p.R1143H NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 1143 Domain I. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GTCCGCTGAGCGCAGCATGAT 0.587000 13 44 0 0 1 0 0 EXOC4 60412 broad.mit.edu 37 7 133602453 133602453 + Silent SNP G G A TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr7:133602453G>A ENST00000253861.4 + 13 2018 c.1989G>A c.(1987-1989)caG>caA p.Q663Q EXOC4_ENST00000460346.1_3'UTR|EXOC4_ENST00000545148.1_Silent_p.Q273Q|EXOC4_ENST00000539845.1_Silent_p.Q562Q NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 663 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) AACCCAAACAGCTGAGGCCAA 0.398000 17 86 0 0 1 0 0 RANBP17 64901 broad.mit.edu 37 5 170345766 170345766 + Missense_Mutation SNP G G A TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr5:170345766G>A ENST00000523189.1 + 10 1168 c.1004G>A c.(1003-1005)cGt>cAt p.R335H NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 335 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TTTTTGGCTCGTTTAAAGACA 0.338000 T TRD@ ALL 9 39 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77661986 77661986 + Missense_Mutation SNP G G A TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr4:77661986G>A ENST00000296043.6 + 5 3613 c.2660G>A c.(2659-2661)cGt>cAt p.R887H NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 887 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) CGGCTCCTCCGTAGCCAGAGC 0.711000 5 15 0 0 1 0 0 VCX3A 51481 broad.mit.edu 37 X 6451822 6451822 + Missense_Mutation SNP A A T TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chrX:6451822A>T ENST00000381089.3 - 3 831 c.525T>A c.(523-525)agT>agA p.S175R VCX3A_ENST00000398729.1_Missense_Mutation_p.S155R NM_016379.3 NP_057463.2 Q9NNX9 VCX3_HUMAN variable charge, X-linked 3A 175 8 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich. brain development nucleolus NS(1)|lung(2)|pancreas(1) 4 CGCTCTCCTGACTCAGTGGTT 0.587000 26 77 0 0 1 0 0 PCDHA7 0 broad.mit.edu 37 5 140215578 140215578 + Missense_Mutation SNP C C T TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr5:140215578C>T ENST00000525929.1 + 1 1610 c.1610C>T c.(1609-1611)gCg>gTg p.A537V PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A537V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGTGAGCGCGCGCGATGCG 0.677000 38 130 0 0 1 0 0 OR10G2 26534 broad.mit.edu 37 14 22102278 22102278 + Missense_Mutation SNP G G A rs137944778 TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr14:22102278G>A ENST00000542433.1 - 1 818 c.721C>T c.(721-723)Cgg>Tgg p.R241W NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) GAGAAGGCCCGGCGCCTCCCA 0.552000 4 32 0 0 1 0 0 ZNRF1 84937 broad.mit.edu 37 16 75127493 75127493 + Missense_Mutation SNP A A G TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr16:75127493A>G ENST00000335325.4 + 2 1090 c.448A>G c.(448-450)Aag>Gag p.K150E ZNRF1_ENST00000320619.6_Missense_Mutation_p.K150E|ZNRF1_ENST00000566250.1_Missense_Mutation_p.K150E|ZNRF1_ENST00000564320.1_3'UTR|ZNRF1_ENST00000567962.1_Missense_Mutation_p.K150E NM_032268.4 NP_115644.1 Q8ND25 ZNRF1_HUMAN zinc and ring finger 1, E3 ubiquitin protein ligase 150 cell junction|endosome|lysosome|synaptic vesicle membrane ligase activity|protein binding|zinc ion binding breast(1) 1 CATTTGCTCCAAGTCTGTGGC 0.483000 21 60 0 0 1 0 0 DDX46 9879 broad.mit.edu 37 5 134102743 134102743 + Missense_Mutation SNP G G A TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr5:134102743G>A ENST00000452510.2 + 3 501 c.343G>A c.(343-345)Gag>Aag p.E115K DDX46_ENST00000354283.4_Missense_Mutation_p.E115K NM_014829.2 NP_055644.2 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 115 mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CAAGAAAACTGAGAATAGGTA 0.468000 3 35 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40900052 40900052 + Missense_Mutation SNP C C T rs139051512 TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr19:40900052C>T ENST00000324001.7 - 7 4477 c.4207G>A c.(4207-4209)Gtc>Atc p.V1403I PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1403 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding p.V1403I(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TTCTCTCTGACGGGGGACTTG 0.692000 14 74 0 0 1 0 0 PITRM1 10531 broad.mit.edu 37 10 3189439 3189439 + Missense_Mutation SNP G G A TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr10:3189439G>A ENST00000380989.2 - 20 2280 c.2242C>T c.(2242-2244)Cgg>Tgg p.R748W PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380994.1_Missense_Mutation_p.R305W|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000451104.2_Missense_Mutation_p.R649W|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000224949.4_Missense_Mutation_p.R747W NM_001242307.1|NM_014889.3 NP_001229236.1|NP_055704.2 E7ES23 E7ES23_HUMAN pitrilysin metallopeptidase 1 649 proteolysis metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3) 33 TTCATCAGCCGCACCTAAGCC 0.498000 3 40 0 0 1 0 0 G6PC 2538 broad.mit.edu 37 17 41063169 41063169 + Missense_Mutation SNP C C T rs145296477 byFrequency TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr17:41063169C>T ENST00000253801.2 + 5 879 c.800C>T c.(799-801)aCg>aTg p.T267M G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR NM_000151.3 NP_000142.2 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 267 gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) AACCTGGGCACGCTCTTTGGC 0.582000 6 34 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22923871 22923871 + Missense_Mutation SNP C C T TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr1:22923871C>T ENST00000166244.3 + 10 1904 c.1832C>T c.(1831-1833)gCg>gTg p.A611V NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 611 integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CAGTTCTATGCGGAACCCCAC 0.652000 21 120 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138603696 138603696 + Missense_Mutation SNP C C T TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr7:138603696C>T ENST00000440172.1 - 2 724 c.676G>A c.(676-678)Gcc>Acc p.A226T KIAA1549_ENST00000422774.1_Missense_Mutation_p.A226T|KIAA1549_ENST00000242365.4_Missense_Mutation_p.A176T NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 226 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 AAATGACTGGCGGACTCAGCA 0.498000 O BRAF pilocytic astrocytoma 15 119 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57556127 57556127 + Missense_Mutation SNP C C T TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr12:57556127C>T ENST00000243077.3 + 14 2696 c.2230C>T c.(2230-2232)Cac>Tac p.H744Y NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 744 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGAGCTGAACCACGCCTTTGG 0.527000 26 100 0 0 1 0 0 OSBPL9 114883 broad.mit.edu 37 1 52252272 52252272 + Silent SNP C C T TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr1:52252272C>T ENST00000371710.3 + 22 2219 c.2037C>T c.(2035-2037)aaC>aaT p.N679N OSBPL9_ENST00000453295.1_Silent_p.N644N|OSBPL9_ENST00000447887.1_Silent_p.N671N|OSBPL9_ENST00000435686.2_Silent_p.N496N|OSBPL9_ENST00000428468.1_Silent_p.N661N|OSBPL9_ENST00000361556.5_Silent_p.N551N|OSBPL9_ENST00000371714.1_Silent_p.N648N|OSBPL9_ENST00000337809.4_Silent_p.N666N|OSBPL9_ENST00000486942.1_Silent_p.N483N|OSBPL9_ENST00000531828.1_Silent_p.N496N|OSBPL9_ENST00000462759.1_Silent_p.N483N|OSBPL9_ENST00000530544.1_Silent_p.N580N NM_024586.5|NM_148906.2 NP_078862.4|NP_683704.2 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 661 lipid transport lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1) 18 AAGATCAGAACGAGTATGAAT 0.438000 9 34 0 0 1 0 0 SPATC1 375686 broad.mit.edu 37 8 145094826 145094826 + Silent SNP G G A TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr8:145094826G>A ENST00000377470.3 + 2 330 c.228G>A c.(226-228)ccG>ccA p.P76P SPATC1_ENST00000447830.2_Silent_p.P76P NM_198572.2 NP_940974.2 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 76 Necessary for targeting centrosomes (By similarity). NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCCTGCCCCCGTCCCCAGCAG 0.632000 21 73 0 0 1 0 0 NEU2 4759 broad.mit.edu 37 2 233899438 233899438 + Missense_Mutation SNP T T G TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr2:233899438T>G ENST00000233840.3 + 2 814 c.814T>G c.(814-816)Tgc>Ggc p.C272G NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) 272 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) GCCCCAGGGCTGCCAGGGGAG 0.682000 6 18 0 0 1 0 0 NTN4 59277 broad.mit.edu 37 12 96180767 96180767 + Missense_Mutation SNP C C T rs142996736 TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr12:96180767C>T ENST00000343702.4 - 2 983 c.535G>A c.(535-537)Gct>Act p.A179T NTN4_ENST00000538383.1_Missense_Mutation_p.A142T|NTN4_ENST00000553059.1_Missense_Mutation_p.A179T|NTN4_ENST00000344911.4_Missense_Mutation_p.A142T NM_021229.3 NP_067052.2 Q9HB63 NET4_HUMAN netrin 4 179 Laminin N-terminal. axon guidance basement membrane|plasma membrane NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 GTACAAATAGCGCCCTTCTTG 0.438000 12 66 0 0 1 0 0 MAGEE1 57692 broad.mit.edu 37 X 75649650 75649650 + Missense_Mutation SNP G G A TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chrX:75649650G>A ENST00000361470.2 + 1 1605 c.1327G>A c.(1327-1329)Gtg>Atg p.V443M NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 443 dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 CAAGGCCTCCGTGGACTCAGA 0.537000 8 8 0 0 1 0 0 GHITM 27069 broad.mit.edu 37 10 85903820 85903820 + Missense_Mutation SNP G G T TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr10:85903820G>T ENST00000372134.3 + 4 492 c.299G>T c.(298-300)gGc>gTc p.G100V NM_014394.2 NP_055209.2 Q9H3K2 GHITM_HUMAN growth hormone inducible transmembrane protein 100 apoptosis integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2) 10 TGCTACTATGGCTTGGGACTG 0.413000 17 62 3.99206e-14 4.22348e-14 1 1 0 KRT27 342574 broad.mit.edu 37 17 38933308 38933308 + Silent SNP A A C TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr17:38933308A>C ENST00000301656.3 - 8 1363 c.1323T>G c.(1321-1323)acT>acG p.T441T KRT27_ENST00000540723.1_5'UTR NM_181537.3 NP_853515.2 Q7Z3Y8 K1C27_HUMAN keratin 27 441 Tail. cytoplasm|intermediate filament structural molecule activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1) 21 Breast(137;0.000812) TCTCTTCCACAGTGTGAACTC 0.413000 21 61 0 0 1 0 0 MC5R 4161 broad.mit.edu 37 18 13826283 13826283 + Silent SNP C C T TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr18:13826283C>T ENST00000324750.3 + 1 741 c.519C>T c.(517-519)tgC>tgT p.C173C NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 173 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 GCACGGGCTGCGGCATTGTCT 0.567000 102 373 0 0 1 0 0 ZPLD1 131368 broad.mit.edu 37 3 102187849 102187849 + Missense_Mutation SNP G G A TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr3:102187849G>A ENST00000306176.1 + 8 951 c.851G>A c.(850-852)cGa>cAa p.R284Q ZPLD1_ENST00000491959.1_Missense_Mutation_p.R268Q|ZPLD1_ENST00000466937.1_Missense_Mutation_p.R268Q NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 268 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 GAGAATGGCCGAAGCCAGCGG 0.478000 8 46 0 0 1 0 0 AHRR 57491 broad.mit.edu 37 5 413482 413482 + Silent SNP C C T TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr5:413482C>T ENST00000316418.5 + 5 431 c.387C>T c.(385-387)gtC>gtT p.V129V AHRR_ENST00000512529.1_5'UTR|AHRR_ENST00000505113.1_Silent_p.V129V NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 129 PAS. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) TTGCTCTGGTCGTGAGTGCAG 0.398000 21 76 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681032 100681032 + Missense_Mutation SNP C C T rs138732859 TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr7:100681032C>T ENST00000306151.4 + 3 6399 c.6335C>T c.(6334-6336)aCg>aTg p.T2112M NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2112 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CTCAGCACCACGCCGGTGGCC 0.498000 46 298 0 0 1 0 0 SIAH3 283514 broad.mit.edu 37 13 46357873 46357873 + Missense_Mutation SNP G G A TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr13:46357873G>A ENST00000400405.2 - 2 561 c.455C>T c.(454-456)gCg>gTg p.A152V NM_198849.2 NP_942146.2 Q8IW03 SIAH3_HUMAN siah E3 ubiquitin protein ligase family member 3 152 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding large_intestine(3)|lung(7)|ovary(1)|skin(1) 12 ATCAGCCGGCGCGGGGAGGTG 0.617000 13 26 0 0 1 0 0 ZDHHC5 25921 broad.mit.edu 37 11 57457663 57457663 + Missense_Mutation SNP G G A rs141814126 TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr11:57457663G>A ENST00000287169.3 + 5 1907 c.545G>A c.(544-546)cGc>cAc p.R182H ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R129H NM_015457.2 NP_056272.2 Q9C0B5 ZDHC5_HUMAN zinc finger, DHHC-type containing 5 182 integral to membrane acyltransferase activity|zinc ion binding endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1) 18 TCAGGGGTCCGCACGGCTGTC 0.517000 4 91 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237777418 237777418 + Missense_Mutation SNP G G A TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr1:237777418G>A ENST00000366574.2 + 37 5307 c.4990G>A c.(4990-4992)Gtc>Atc p.V1664I RYR2_ENST00000542537.1_Missense_Mutation_p.V1648I|RYR2_ENST00000360064.6_Missense_Mutation_p.V1662I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1664 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.V1662L(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTACTCAGCCGTCTGTGCTCT 0.517000 10 22 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433101 55433101 + Silent SNP C C T rs144378683 TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr11:55433101C>T ENST00000314259.3 + 1 488 c.459C>T c.(457-459)caC>caT p.H153H NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H153H(1) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 GATTTATGCACGCAATGATAC 0.463000 20 66 0 0 1 0 0 ERN1 2081 broad.mit.edu 37 17 62131666 62131666 + Missense_Mutation SNP T T G TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr17:62131666T>G ENST00000433197.2 - 15 1992 c.1897A>C c.(1897-1899)Aag>Cag p.K633Q NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 633 Protein kinase. activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 TGCCGGTCCTTCTCCGTGCAG 0.488000 5 16 0 0 1 0 0 PRB4 5545 broad.mit.edu 37 12 11461396 11461396 + Missense_Mutation SNP C C T TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr12:11461396C>T ENST00000279575.1 - 3 554 c.521G>A c.(520-522)cGa>cAa p.R174Q PRB4_ENST00000445719.2_Intron|PRB4_ENST00000535904.1_Missense_Mutation_p.R174Q NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 237 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. Missing (in allele S). Missing (in Ref. 7; CAA30542). extracellular region p.R174Q(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 TCGGGCACTTCGGGACTTGTT 0.597000 HNSCC(22;0.051) 73 232 0 0 1 0 0 JAG2 3714 broad.mit.edu 37 14 105622205 105622205 + Silent SNP G G A TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr14:105622205G>A ENST00000331782.3 - 4 1000 c.597C>T c.(595-597)gaC>gaT p.D199D RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Silent_p.D199D NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 199 DSL. auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) AGTAGTTCTCGTCGCAGCGCA 0.627000 4 18 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126355498 126355498 + Missense_Mutation SNP A A G TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr4:126355498A>G ENST00000394329.3 + 7 7130 c.7117A>G c.(7117-7119)Att>Gtt p.I2373V FAT4_ENST00000335110.5_Missense_Mutation_p.I671V NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2373 Cadherin 23. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TTTCACAACAATTCCTGAGGA 0.413000 23 84 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56307589 56307589 + Silent SNP G G A rs116391886 by1000genomes TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr19:56307589G>A ENST00000443188.1 - 8 2909 c.2199C>T c.(2197-2199)agC>agT p.S733S NLRP11_ENST00000360133.3_Silent_p.S679S|NLRP11_ENST00000589093.1_Silent_p.S733S|NLRP11_ENST00000592953.1_Silent_p.S634S|NLRP11_ENST00000589824.2_Silent_p.S679S NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 733 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CTTCACATTCGCTGGCTCGCA 0.443000 12 52 0 0 1 0 0 SLC2A13 114134 broad.mit.edu 37 12 40345131 40345131 + Missense_Mutation SNP G G A TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr12:40345131G>A ENST00000280871.4 - 4 1012 c.962C>T c.(961-963)cCa>cTa p.P321L SLC2A13_ENST00000380858.1_Missense_Mutation_p.P321L NM_052885.3 NP_443117.3 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose transporter), member 13 321 integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 29 Lung NSC(34;0.105)|all_lung(34;0.123) TCGGCGAGTTGGGGGATAACT 0.373000 HNSCC(50;0.14) 6 45 0 0 1 0 0 EIF4ENIF1 56478 broad.mit.edu 37 22 31845480 31845480 + Missense_Mutation SNP G G A TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr22:31845480G>A ENST00000397525.1 - 12 1845 c.1622C>T c.(1621-1623)tCc>tTc p.S541F EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.S517F|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.S541F|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.S196F|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.S366F NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 541 nucleus protein binding|protein transporter activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CAGAAGATTGGAAGAAGCAGG 0.478000 9 73 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126749159 126749159 + Missense_Mutation SNP C C T TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr3:126749159C>T ENST00000393409.2 + 28 5135 c.5135C>T c.(5134-5136)cCg>cTg p.P1712L PLXNA1_ENST00000251772.4_Missense_Mutation_p.P1689L NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 1712 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) TCAGCCCTGCCGCTGGCCATC 0.602000 22 80 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50659379 50659379 + Missense_Mutation SNP C C T TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr22:50659379C>T ENST00000439308.2 - 16 3901 c.3409G>A c.(3409-3411)Gtg>Atg p.V1137M TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Missense_Mutation_p.V1137M NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1137 9 X 27 AA tandem repeats. G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) GCGTTGGACACGTGCCCGTGG 0.622000 25 102 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9075892 9075892 + Silent SNP T T G TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr19:9075892T>G ENST00000397910.4 - 3 11757 c.11554A>C c.(11554-11556)Aga>Cga p.R3852R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3853 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGCCCTTGTCTCTGAAAAGTT 0.493000 4 55 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113353895 113353895 + Missense_Mutation SNP T T A TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr8:113353895T>A ENST00000297405.5 - 42 6707 c.6463A>T c.(6463-6465)Aat>Tat p.N2155Y CSMD3_ENST00000343508.3_Missense_Mutation_p.N2115Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.N2085Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.N2051Y NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2155 CUB 12. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTAGAAAAATTTACAAACTGG 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 8 17 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12666860 12666860 + Missense_Mutation SNP G G A TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr17:12666860G>A ENST00000425538.1 + 14 3060 c.2860G>A c.(2860-2862)Gcc>Acc p.A954T MYOCD_ENST00000343344.4_Missense_Mutation_p.A906T|RP11-1090M7.1_ENST00000584772.1_RNA NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 906 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding p.A906T(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AGGCTTTAGCGCCCTCACCAC 0.517000 11 41 0 0 1 0 0 HSF2BP 11077 broad.mit.edu 37 21 44949704 44949704 + Missense_Mutation SNP C C T rs140530326 byFrequency TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr21:44949704C>T ENST00000291560.2 - 9 1266 c.935G>A c.(934-936)cGc>cAc p.R312H HSF2BP_ENST00000542962.1_Missense_Mutation_p.R237H NM_007031.1 NP_008962.1 O75031 HSF2B_HUMAN heat shock transcription factor 2 binding protein 312 spermatogenesis|transcription from RNA polymerase II promoter cytosol binding kidney(2)|large_intestine(3)|prostate(1)|skin(1) 7 STAD - Stomach adenocarcinoma(101;0.18) GCGGGGGTTGCGGCTCTTGGA 0.592000 28 58 0 0 1 0 0 ZNF460 10794 broad.mit.edu 37 19 57802451 57802451 + Missense_Mutation SNP G G T TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr19:57802451G>T ENST00000360338.3 + 3 864 c.542G>T c.(541-543)tGc>tTc p.C181F ZNF460_ENST00000537645.1_Missense_Mutation_p.C140F NM_006635.3 NP_006626.3 Q14592 ZN460_HUMAN zinc finger protein 460 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AATGAGAATTGCTTCCTTGTT 0.433000 17 76 3.45872e-05 3.50676e-05 1 1 0 SLFN13 146857 broad.mit.edu 37 17 33767661 33767661 + Missense_Mutation SNP T T A TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr17:33767661T>A ENST00000285013.6 - 6 2922 c.2647A>T c.(2647-2649)Atc>Ttc p.I883F SLFN13_ENST00000533791.1_Missense_Mutation_p.I883F|SLFN13_ENST00000360502.2_Missense_Mutation_p.I565F|SLFN13_ENST00000542635.1_Missense_Mutation_p.I883F|SLFN13_ENST00000534689.1_Missense_Mutation_p.I565F|SLFN13_ENST00000526861.1_Missense_Mutation_p.I883F NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 883 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GCCAGACAGATCAGAATATTG 0.448000 24 110 0 0 1 0 0 ANKRD13C 81573 broad.mit.edu 37 1 70779456 70779456 + Silent SNP T T C TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr1:70779456T>C ENST00000370944.4 - 5 994 c.681A>G c.(679-681)ctA>ctG p.L227L ANKRD13C_ENST00000262346.6_Silent_p.L192L NM_030816.4 NP_110443.3 Q8N6S4 AN13C_HUMAN ankyrin repeat domain 13C 227 protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process endoplasmic reticulum membrane|perinuclear region of cytoplasm receptor binding endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 19 AGTGAAGTTCTAGATAAAAGT 0.289000 16 65 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170093742 170093742 + Missense_Mutation SNP C C T TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr2:170093742C>T ENST00000263816.3 - 28 4847 c.4562G>A c.(4561-4563)cGt>cAt p.R1521H NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1521 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GTAAAGATTACGACCTACCCA 0.363000 15 49 0 0 1 0 0 MC2R 0 broad.mit.edu 37 18 13884771 13884771 + Silent SNP G G T TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr18:13884771G>T ENST00000327606.3 - 2 927 c.747C>A c.(745-747)ccC>ccA p.P249P NM_000529.2 NP_000520.1 Q01718 ACTHR_HUMAN melanocortin 2 receptor (adrenocorticotropic hormone) 249 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) AGGCGCAGTAGGGGTTACTTG 0.542000 8 37 7.48243e-07 7.8031e-07 1 1 0 IKZF1 10320 broad.mit.edu 37 7 50468070 50468070 + Silent SNP C C T TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr7:50468070C>T ENST00000331340.3 + 8 1460 c.1305C>T c.(1303-1305)taC>taT p.Y435Y IKZF1_ENST00000439701.1_Silent_p.Y393Y|IKZF1_ENST00000438033.1_Silent_p.Y348Y|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Silent_p.Y348Y|IKZF1_ENST00000359197.5_Silent_p.Y393Y|IKZF1_ENST00000346667.4_Silent_p.Y205Y|IKZF1_ENST00000349824.4_Silent_p.Y292Y|IKZF1_ENST00000357364.4_Silent_p.Y348Y NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 435 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(28) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) ACCGCGCCTACGACCTGCTGC 0.672000 """D,T""" BCL6 """ALL, DLBCL""" 7 34 0 0 1 0 0 PPAN 56342 broad.mit.edu 37 19 10224746 10224746 + Missense_Mutation SNP G G A TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr19:10224746G>A ENST00000556468.1 + 13 1744 c.1717G>A c.(1717-1719)Ggc>Agc p.G573S P2RY11_ENST00000321826.4_Missense_Mutation_p.G153S|PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.G573S peter pan homolog (Drosophila) endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) GAGCGCTGCCGGCTGGGTCCT 0.697000 8 28 0 0 1 0 0 BAIAP2 10458 broad.mit.edu 37 17 79059507 79059507 + Silent SNP G G A TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr17:79059507G>A ENST00000321300.6 + 5 426 c.333G>A c.(331-333)ctG>ctA p.L111L BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000575712.1_Silent_p.L111L|BAIAP2_ENST00000392411.3_Silent_p.L33L|BAIAP2_ENST00000428708.2_Silent_p.L111L|BAIAP2_ENST00000321280.7_Silent_p.L111L|BAIAP2_ENST00000435091.3_Silent_p.L111L|BAIAP2_ENST00000575245.1_Silent_p.L144L NM_001144888.1|NM_017451.2 NP_001138360.1|NP_059345.1 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 111 IMD. axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1) 18 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) AGGTGGAGCTGGACTCCAGGT 0.587000 17 43 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47161888 47161891 + Frame_Shift_Del DEL CTCT CTCT - TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr3:47161888_47161891delCTCT ENST00000409792.3 - 3 4277_4280 c.4235_4238delAGAG c.(4234-4239)gtfs p.ES1412fs NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1412 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TTCAGAATCACTCTCTATTTCCTG 0.412 """N, F, S, Mis""" clear cell renal carcinoma 12 54 --- --- --- --- ATP8A1 10396 broad.mit.edu 37 4 42626599 42626600 + Frame_Shift_Del DEL AA AA - TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr4:42626599_42626600delAA ENST00000381668.5 - 4 547_548 c.316_317delTT c.(316-318)afs p.L106fs ATP8A1_ENST00000264449.10_Frame_Shift_Del_p.L106fs NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 106 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) TAAAATAAATAAGAGAGGAACC 0.292 9 38 --- --- --- --- DLX6 1750 broad.mit.edu 37 7 96635420 96635421 + In_Frame_Ins INS - - GCC TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr7:96635420_96635421insGCC ENST00000518156.2 + 1 561_562 c.131_132insGCC c.(130-132)ccc>cGCCcc p.43_44insR DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437541.1_RNA P56179 DLX6_HUMAN distal-less homeobox 6 0 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) caacagcaacagccgccgccgc 0.698 2 4 --- --- --- --- ZNF658 26149 broad.mit.edu 37 9 40789482 40789483 + Splice_Site INS - - A TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr9:40789482_40789483insA ENST00000602553.1 - 2 94 c.e2-2 ZNF658_ENST00000441795.1_Splice_Site|ZNF658_ENST00000377626.3_Intron Q5TYW1 ZN658_HUMAN zinc finger protein 658 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TTCATGTGCCTAAAAAAAAAAA 0.426 3 5 --- --- --- --- RP11-383M4.6 0 broad.mit.edu 37 9 84564499 84564500 + RNA DEL CA CA - TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr9:84564499_84564500delCA ENST00000585776.1 - 0 942 SPATA31D3_ENST00000334208.4_RNA GAATAGATATCACCTGTCCCCA 0.505 2 4 --- --- --- --- BCAR1 9564 broad.mit.edu 37 16 75271148 75271148 + Frame_Shift_Del DEL G G - TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr16:75271148delG ENST00000546196.1 - 3 2293 c.641delC c.(640-642)cgfs p.P214fs BCAR1_ENST00000542031.2_Frame_Shift_Del_p.P241fs|BCAR1_ENST00000538440.2_Frame_Shift_Del_p.P243fs|BCAR1_ENST00000535626.2_Frame_Shift_Del_p.P95fs|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Frame_Shift_Del_p.P261fs|BCAR1_ENST00000418647.3_Frame_Shift_Del_p.P289fs|BCAR1_ENST00000393420.6_Frame_Shift_Del_p.P243fs|BCAR1_ENST00000393422.2_Frame_Shift_Del_p.P261fs|BCAR1_ENST00000162330.5_Frame_Shift_Del_p.P243fs P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 243 Substrate for kinases (By similarity). actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) CTGTGGCCCCGGGGCCAGCAG 0.697 2 4 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 11 42 --- --- --- --- PDE4C 5143 broad.mit.edu 37 19 18337154 18337154 + Frame_Shift_Del DEL G G - TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr19:18337154delG ENST00000262805.11 - 1 131 c.72delC c.(70-72)ccfs p.P24fs PDE4C_ENST00000594465.2_Intron|PDE4C_ENST00000594617.2_Intron|PDE4C_ENST00000355502.3_Intron NM_001098818.2 NP_001092288.1 Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 433 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) TGAAGAGCCCGGGGGAGCCGC 0.741 2 4 --- --- --- --- FBL 2091 broad.mit.edu 37 19 40331409 40331409 + Frame_Shift_Del DEL C C - TCGA-HT-A74H-01A-11D-A32B-08 TCGA-HT-A74H-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76c03738-63f8-41c8-9dfc-4dcf447f2b95 f03d1a78-0b2f-4725-8dd3-d31d00507dcd g.chr19:40331409delC ENST00000221801.3 - 2 142 c.29delG c.(28-30)gtfs p.G11fs NM_001436.3 NP_001427.2 P22087 FBRL_HUMAN fibrillarin 11 DMA/Gly-rich. rRNA processing|tRNA processing box C/D snoRNP complex|Cajal body methyltransferase activity|protein binding|RNA binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1) 9 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Renal(1328;0.000518)|Hepatocellular(1079;0.0893) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138) GCCAAAGCCACCCCCACGGGG 0.607 2 4 --- --- --- ---