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 UPK1A 11045 broad.mit.edu 37 19 36164418 36164418 + Missense_Mutation SNP A A C TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:36164418A>C ENST00000222275.2 + 4 439 c.439A>C c.(439-441)Acc>Ccc p.T147P UPK1A_ENST00000379013.2_Missense_Mutation_p.T147P NM_007000.2 NP_008931.1 O00322 UPK1A_HUMAN uroplakin 1A 147 epithelial cell differentiation|protein oligomerization endoplasmic reticulum|integral to membrane monosaccharide binding|protein homodimerization activity breast(1)|large_intestine(4)|lung(2)|stomach(2) 9 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCAGGAGCTGACCCGCCTCTG 0.637000 4 18 0 0 0.000219431 0 0 TEX9 374618 broad.mit.edu 37 15 56719929 56719929 + Missense_Mutation SNP A A G TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr15:56719929A>G ENST00000537232.1 + 11 1326 c.865A>G c.(865-867)Agg>Ggg p.R289G TEX9_ENST00000560582.1_Intron|TEX9_ENST00000352903.2_Missense_Mutation_p.R364G|MNS1_ENST00000566386.1_Intron Q8N6V9 TEX9_HUMAN testis expressed 9 364 cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 14 all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056) TGTTTTAAAAAGGCAAAAGGT 0.244000 3 165 0 0 6.4e-05 0 0 MAP1A 4130 broad.mit.edu 37 15 43820775 43820775 + Silent SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr15:43820775C>T ENST00000382031.1 + 5 7849 c.7818C>T c.(7816-7818)aaC>aaT p.N2606N MAP1A_ENST00000399453.1_Silent_p.N2368N|MAP1A_ENST00000300231.5_Silent_p.N2368N P78559 MAP1A_HUMAN microtubule-associated protein 1A 2368 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CCAGCCCTAACCCCCCAGGCC 0.642000 7 29 0 0 0.000157383 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 4 13 0.000602214 0.00504139 0.000602214 1 0 DPP6 1804 broad.mit.edu 37 7 154681011 154681011 + Silent SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr7:154681011G>A ENST00000404039.1 + 24 2729 c.2142G>A c.(2140-2142)gcG>gcA p.A714A DPP6_ENST00000427557.1_Silent_p.A671A|DPP6_ENST00000377770.3_Silent_p.A778A|DPP6_ENST00000332007.3_Silent_p.A716A NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 778 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GAGTCTCCGCGCTGGAAGAAC 0.537000 5 17 0 0 0.000602214 0 0 NOX1 27035 broad.mit.edu 37 X 100099014 100099014 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chrX:100099014C>T ENST00000372966.3 - 13 1827 c.1622G>A c.(1621-1623)cGc>cAc p.R541H NOX1_ENST00000217885.5_Missense_Mutation_p.R492H|NOX1_ENST00000372960.4_Missense_Mutation_p.R504H|NOX1_ENST00000372964.1_Intron NM_007052.4|NM_013955.2 NP_008983.2|NP_039249.1 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 541 angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity cervix(1)|lung(3)|ovary(1)|skin(2) 7 ACAGCATTTGCGCAGGCTCTT 0.428000 5 18 0 0 0.000602214 0 0 OBSL1 23363 broad.mit.edu 37 2 220432935 220432935 + Translation_Start_Site SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr2:220432935C>T ENST00000289656.3 - 0 182 OBSL1_ENST00000373873.4_Missense_Mutation_p.R375H|OBSL1_ENST00000265318.4_Missense_Mutation_p.R375H|OBSL1_ENST00000404537.1_Missense_Mutation_p.R375H|OBSL1_ENST00000373876.1_Missense_Mutation_p.R375H|OBSL1_ENST00000603926.1_Missense_Mutation_p.R375H O75147 OBSL1_HUMAN obscurin-like 1 cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CTGGTCCTCACGGAACCAGGC 0.637000 OREG0003988 type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 9 31 0 0 0.000274275 0 0 SMG8 55181 broad.mit.edu 37 17 57287434 57287434 + Nonsense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr17:57287434C>T ENST00000543872.2 + 2 286 c.22C>T c.(22-24)Cga>Tga p.R8* SMG8_ENST00000300917.5_Nonsense_Mutation_p.R8*|SMG8_ENST00000578922.1_Nonsense_Mutation_p.R8*|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_3'UTR Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 8 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 CGTGAGCTTGCGAGACCTTCT 0.597000 9 13 0 0 0.000442599 0 0 PLEKHJ1 55111 broad.mit.edu 37 19 2234193 2234193 + Silent SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:2234193G>A ENST00000589097.1 - 5 1389 c.276C>T c.(274-276)agC>agT p.S92S PLEKHJ1_ENST00000588545.1_Silent_p.S73S|PLEKHJ1_ENST00000591099.1_Intron|PLEKHJ1_ENST00000587962.1_Silent_p.S92S|PLEKHJ1_ENST00000586608.1_Intron|PLEKHJ1_ENST00000326631.2_Silent_p.S92S|PLEKHJ1_ENST00000587394.1_Silent_p.S92S|PLEKHJ1_ENST00000589791.1_5'UTR Q9NW61 PKHJ1_HUMAN pleckstrin homology domain containing, family J member 1 92 PH. protein binding p.S92R(1) endometrium(1)|kidney(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACTGCTCCTCGCTGCTGCACT 0.632000 13 60 0 0 0.00136819 0 0 GLS2 27165 broad.mit.edu 37 12 56866515 56866515 + Silent SNP C C G TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr12:56866515C>G ENST00000311966.4 - 15 1748 c.1470G>C c.(1468-1470)ctG>ctC p.L490L NM_013267.2 NP_037399.2 Q9UI32 GLSL_HUMAN glutaminase 2 (liver, mitochondrial) 490 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CAGCAAATAACAGGTTGACCA 0.438000 3 84 0 0 0.00024832 0 0 TPH2 121278 broad.mit.edu 37 12 72335511 72335511 + Missense_Mutation SNP C C G TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr12:72335511C>G ENST00000333850.3 + 2 394 c.253C>G c.(253-255)Cag>Gag p.Q85E TPH2_ENST00000546576.1_3'UTR NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 85 ACT. aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) GAGGCTCTTTCAGGTGAATGT 0.398000 13 76 0 0 0.00185496 0 0 ELAC1 55520 broad.mit.edu 37 18 48500811 48500811 + Missense_Mutation SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr18:48500811G>A ENST00000269466.3 + 2 144 c.37G>A c.(37-39)Gca>Aca p.A13T SMAD4_ENST00000452201.2_5'UTR|RP11-729L2.2_ENST00000588256.1_3'UTR|ELAC1_ENST00000591429.1_Missense_Mutation_p.A13T|RP11-729L2.2_ENST00000590722.2_Missense_Mutation_p.A13T|ELAC1_ENST00000588577.1_Missense_Mutation_p.A13T NM_018696.2 NP_061166.1 Q9H777 RNZ1_HUMAN elaC ribonuclease Z 1 13 tRNA 3'-trailer cleavage nucleus endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding kidney(1)|large_intestine(4)|prostate(1) 6 Colorectal(6;0.0269)|all_epithelial(6;0.0729) Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18) GACGGGTGCAGCATACCCATC 0.507000 9 50 0 0 0.000442599 0 0 UCHL1 7345 broad.mit.edu 37 4 41265298 41265298 + Silent SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr4:41265298C>T ENST00000284440.4 + 7 660 c.516C>T c.(514-516)ctC>ctT p.L172L UCHL1_ENST00000503431.1_Silent_p.L172L|UCHL1_ENST00000508768.1_Silent_p.L156L|UCHL1_ENST00000512788.1_Silent_p.L172L NM_004181.4 NP_004172.2 P09936 UCHL1_HUMAN ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) 172 cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus|plasma membrane alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2) 8 ATGGCCACCTCTATGAACTTG 0.343000 12 90 0 0 0.00136819 0 0 SYNE3 161176 broad.mit.edu 37 14 95921755 95921755 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr14:95921755C>T ENST00000334258.5 - 5 1110 c.1096G>A c.(1096-1098)Ggg>Agg p.G366R SYNE3_ENST00000557275.1_Missense_Mutation_p.G366R|SYNE3_ENST00000553340.1_Missense_Mutation_p.G366R|SYNE3_ENST00000554873.1_Missense_Mutation_p.G123R NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 TCCTCGGTCCCCGCTTTCGCC 0.652000 17 55 0 0 0.00074312 0 0 PAX1 5075 broad.mit.edu 37 20 21687285 21687285 + Missense_Mutation SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr20:21687285G>A ENST00000398485.2 + 2 550 c.496G>A c.(496-498)Ggg>Agg p.G166R PAX1_ENST00000444366.2_Missense_Mutation_p.G142R|PAX1_ENST00000460221.1_Intron NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 166 Paired. regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 CGGGGCCATCGGGGGGAGCAA 0.647000 18 89 0 0 0.000566183 0 0 PTPRM 5797 broad.mit.edu 37 18 8379226 8379226 + Missense_Mutation SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr18:8379226G>A ENST00000332175.8 + 26 4672 c.3635G>A c.(3634-3636)cGg>cAg p.R1212Q PTPRM_ENST00000400053.4_Missense_Mutation_p.R1150Q|PTPRM_ENST00000400060.4_Missense_Mutation_p.R1226Q|PTPRM_ENST00000580170.1_Missense_Mutation_p.R1225Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.R999Q NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 1212 Tyrosine-protein phosphatase 2. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) CTGTTGCCCCGGAACCATGAG 0.547000 18 102 0 0 0.00074312 0 0 CCDC88A 55704 broad.mit.edu 37 2 55571557 55571557 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr2:55571557C>T ENST00000436346.1 - 11 1976 c.1135G>A c.(1135-1137)Gaa>Aaa p.E379K AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E379K|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E379K|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E379K NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 379 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 TTTTCTAATTCATGTAATTTA 0.318000 8 58 0 0 0.000157383 0 0 SF3B3 23450 broad.mit.edu 37 16 70597896 70597896 + Silent SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr16:70597896G>A ENST00000302516.5 + 18 2617 c.2406G>A c.(2404-2406)acG>acA p.T802T NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 802 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) TCATTGAAACGGACCACAATG 0.463000 14 89 0 0 0.00185496 0 0 TMEM59L 25789 broad.mit.edu 37 19 18729231 18729231 + Missense_Mutation SNP T T C TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:18729231T>C ENST00000600490.1 + 8 1014 c.829T>C c.(829-831)Tcc>Ccc p.S277P TMEM59L_ENST00000262817.3_Missense_Mutation_p.S277P Q9UK28 TM59L_HUMAN transmembrane protein 59-like 277 Golgi membrane|integral to membrane|membrane fraction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2) 13 CCTCTTCCTCTCCGTGCTGGT 0.697000 3 26 0 0 0.00024832 0 0 ZNF512 84450 broad.mit.edu 37 2 27830785 27830785 + Missense_Mutation SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr2:27830785G>A ENST00000355467.4 + 10 1093 c.1010G>A c.(1009-1011)cGa>cAa p.R337Q RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_Missense_Mutation_p.R308Q|ZNF512_ENST00000556601.1_Missense_Mutation_p.R206Q|ZNF512_ENST00000379717.1_Missense_Mutation_p.R336Q|ZNF512_ENST00000413371.2_Missense_Mutation_p.R260Q Q96ME7 ZN512_HUMAN zinc finger protein 512 337 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155) AGTGGGGGCCGAGTTCAGAGA 0.512000 12 49 0 0 0.00185496 0 0 CHD6 84181 broad.mit.edu 37 20 40192707 40192707 + Missense_Mutation SNP G G C TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr20:40192707G>C ENST00000373222.3 - 2 119 c.81C>G c.(79-81)tgC>tgG p.C27W CHD6_ENST00000309279.7_Intron|CHD6_ENST00000373233.3_Intron Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2338 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) tgggatttgggcaacttattt 0.398000 9 39 0 0 0.000673444 0 0 HIST1H2BK 85236 broad.mit.edu 37 6 27114379 27114379 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr6:27114379C>T ENST00000396891.4 - 1 240 c.199G>A c.(199-201)Gtc>Atc p.V67I HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.V67I NM_080593.2 NP_542160.1 O60814 H2B1K_HUMAN histone cluster 1, H2bk 67 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 ATGTCGTTGACGAAGGAGTTC 0.592000 18 254 0 0 0.00152264 0 0 GPR112 139378 broad.mit.edu 37 X 135487937 135487937 + Missense_Mutation SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chrX:135487937G>A ENST00000394143.1 + 23 9032 c.8741G>A c.(8740-8742)tGc>tAc p.C2914Y GPR112_ENST00000412101.1_Missense_Mutation_p.C2709Y|GPR112_ENST00000394141.1_Missense_Mutation_p.C2709Y|GPR112_ENST00000287534.4_Missense_Mutation_p.C2667Y|GPR112_ENST00000370652.1_Missense_Mutation_p.C2914Y NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2914 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.C2914F(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TCCATGTTCTGCACTGTTCTT 0.398000 24 65 0 0 0.000295444 0 0 ATP5D 513 broad.mit.edu 37 19 1244103 1244103 + Silent SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:1244103C>T ENST00000215375.2 + 3 404 c.303C>T c.(301-303)agC>agT p.S101S ATP5D_ENST00000591660.1_Silent_p.S101S|ATP5D_ENST00000395633.1_Silent_p.S101S NM_001687.4 NP_001678.1 P30049 ATPD_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit 101 mitochondrial ATP synthesis coupled proton transport|oxidative phosphorylation|respiratory electron transport chain|response to copper ion mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism large_intestine(1) 1 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CAGTGAGCAGCGGTTCCATCG 0.647000 OREG0025113 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 5 0 0 6.4e-05 0 0 GLTSCR1 29998 broad.mit.edu 37 19 48183863 48183863 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:48183863C>T ENST00000396720.3 + 6 1630 c.1436C>T c.(1435-1437)gCg>gTg p.A479V CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 479 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) GGCGCCCCGGCGGTCCAGCTC 0.697000 11 23 0 0 0.000978159 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431686 56431686 + Missense_Mutation SNP T T G TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr11:56431686T>G ENST00000302969.2 + 1 549 c.525T>G c.(523-525)aaT>aaG p.N175K NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 ATATCATCAATCATTTCTTCT 0.483000 39 246 0 0 0.00128727 0 0 CKS1B 1163 broad.mit.edu 37 1 154947264 154947264 + Missense_Mutation SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr1:154947264G>A ENST00000368436.1 + 1 106 c.43G>A c.(43-45)Gag>Aag p.E15K CKS1B_ENST00000368439.1_5'UTR|CKS1B_ENST00000308987.5_Missense_Mutation_p.E15K P61024 CKS1_HUMAN CDC28 protein kinase regulatory subunit 1B 15 cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle nucleoplasm cyclin-dependent protein kinase regulator activity|protein binding breast(1)|large_intestine(1)|lung(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) ATACGACGACGAGGAGTTTGA 0.547000 6 34 0 0 0.00116845 0 0 NR3C2 4306 broad.mit.edu 37 4 149356634 149356634 + Missense_Mutation SNP A A T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr4:149356634A>T ENST00000355292.3 - 2 1741 c.1379T>A c.(1378-1380)tTt>tAt p.F460Y NR3C2_ENST00000358102.3_Missense_Mutation_p.F460Y|NR3C2_ENST00000511528.1_Missense_Mutation_p.F460Y|NR3C2_ENST00000512865.1_Missense_Mutation_p.F460Y|NR3C2_ENST00000344721.4_Missense_Mutation_p.F460Y|NR3C2_ENST00000342437.4_Missense_Mutation_p.F460Y P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 460 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) ATCATCCATAAAGGAAAAATA 0.418000 10 52 0 0 0.000442599 0 0 ZNF610 162963 broad.mit.edu 37 19 52869877 52869877 + Missense_Mutation SNP A A T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:52869877A>T ENST00000601151.1 + 5 1569 c.1117A>T c.(1117-1119)Acc>Tcc p.T373S ZNF610_ENST00000327920.8_Missense_Mutation_p.T416S|ZNF610_ENST00000321287.8_Missense_Mutation_p.T416S|ZNF610_ENST00000403906.3_Missense_Mutation_p.T416S NM_001161427.1 NP_001154899.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 416 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) ATTATACCTAACCAACCATCA 0.423000 11 53 0 0 0.000673444 0 0 PCDH10 57575 broad.mit.edu 37 4 134072411 134072411 + Silent SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr4:134072411G>A ENST00000264360.4 + 1 1942 c.1116G>A c.(1114-1116)gcG>gcA p.A372A NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 372 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) AGGGCGCGGCGCCCGGCACTG 0.617000 13 95 0 0 0.00136819 0 0 UTRN 7402 broad.mit.edu 37 6 144769778 144769778 + Nonsense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr6:144769778C>T ENST00000367545.3 + 16 1945 c.1945C>T c.(1945-1947)Cag>Tag p.Q649* NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 649 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TCAGATTCCTCAGAAGGACCT 0.413000 10 78 0 0 0.000673444 0 0 SOX11 6664 broad.mit.edu 37 2 5833121 5833121 + Silent SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr2:5833121C>T ENST00000322002.3 + 1 323 c.268C>T c.(268-270)Ctg>Ttg p.L90L NM_003108.3 NP_003099.1 P35716 SOX11_HUMAN SRY (sex determining region Y)-box 11 90 cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis cytoplasm|nucleolus enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) OV - Ovarian serous cystadenocarcinoma(76;0.132) CTGGAAAATGCTGAAGGACAG 0.587000 15 48 0 0 0.000219431 0 0 MTSS1L 92154 broad.mit.edu 37 16 70698642 70698642 + Missense_Mutation SNP C C T rs149700961 TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr16:70698642C>T ENST00000338779.6 - 14 1604 c.1330G>A c.(1330-1332)Gcc>Acc p.A444T FLJ00418_ENST00000597002.1_5'UTR NM_138383.2 NP_612392.1 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 444 filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1) 7 AGGTCACTGGCGGCGGGGGAC 0.672000 7 19 0 0 0.000157383 0 0 PSG8 440533 broad.mit.edu 37 19 43258661 43258661 + Missense_Mutation SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:43258661G>A ENST00000404209.4 - 5 1163 c.1067C>T c.(1066-1068)gCg>gTg p.A356V PSG8_ENST00000401467.2_Missense_Mutation_p.A263V|PSG8_ENST00000306511.4_Missense_Mutation_p.A356V|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Missense_Mutation_p.A234V NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 356 Ig-like C2-type 3. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GTTAGAGTCCGCAGAACAGGA 0.453000 53 237 0 0 0.000781405 0 0 RASA1 5921 broad.mit.edu 37 5 86674234 86674234 + Missense_Mutation SNP G G T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr5:86674234G>T ENST00000456692.2 + 18 1950 c.1835G>T c.(1834-1836)cGa>cTa p.R612L RASA1_ENST00000512763.1_Missense_Mutation_p.R622L|RASA1_ENST00000506290.1_Missense_Mutation_p.R623L|RASA1_ENST00000274376.6_Missense_Mutation_p.R789L NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 789 C2. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding p.R789Q(1) NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) ACCCTATTTCGAGCCACAACA 0.353000 16 25 1.67942e-08 1.43321e-07 0.00074312 1 0 GCN1L1 10985 broad.mit.edu 37 12 120582810 120582810 + Missense_Mutation SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr12:120582810G>A ENST00000300648.6 - 40 5084 c.5072C>T c.(5071-5073)tCg>tTg p.S1691L NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1691 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTCAAAGCACGACTCCCCCAT 0.592000 10 91 0 0 0.000442599 0 0 ZNF329 79673 broad.mit.edu 37 19 58639337 58639337 + Missense_Mutation SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:58639337G>A ENST00000598312.1 - 4 1767 c.1534C>T c.(1534-1536)Cgg>Tgg p.R512W ZNF329_ENST00000358067.4_Missense_Mutation_p.R512W NM_024620.3 NP_078896.3 Q86UD4 ZN329_HUMAN zinc finger protein 329 512 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) TGAGGACACCGGCTGGGACCC 0.507000 63 106 0 0 0.000781405 0 0 NDNF 79625 broad.mit.edu 37 4 121958733 121958733 + Silent SNP A A G TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr4:121958733A>G ENST00000379692.4 - 4 919 c.393T>C c.(391-393)aaT>aaC p.N131N NDNF_ENST00000506900.1_5'UTR NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 131 breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 ACTCAACATCATTGCCTTTGT 0.403000 15 63 0 0 0.000422831 0 0 CACNG7 59284 broad.mit.edu 37 19 54416119 54416119 + Silent SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:54416119C>T ENST00000391767.1 + 2 246 c.34C>T c.(34-36)Ctg>Ttg p.L12L CACNG7_ENST00000391766.1_Silent_p.L12L|CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000222212.2_Silent_p.L12L P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 12 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) CCTGACCCTGCTGAGCAGCGT 0.632000 7 41 0 0 8.12818e-05 0 0 AP5M1 55745 broad.mit.edu 37 14 57747048 57747048 + Missense_Mutation SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr14:57747048G>A ENST00000261558.3 + 3 1262 c.856G>A c.(856-858)Gat>Aat p.D286N AP5M1_ENST00000431972.2_Missense_Mutation_p.D300N|AP5M1_ENST00000556723.1_3'UTR NM_018229.3 NP_060699.3 Q9H0R1 MUDEN_HUMAN adaptor-related protein complex 5, mu 1 subunit 286 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex TAGTAGTATTGATGCAATGGA 0.423000 56 127 0 0 0.000781405 0 0 NLRP11 204801 broad.mit.edu 37 19 56300195 56300195 + Missense_Mutation SNP C C G TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:56300195C>G ENST00000443188.1 - 11 3543 c.2833G>C c.(2833-2835)Gat>Cat p.D945H NLRP11_ENST00000592953.1_Missense_Mutation_p.D846H|NLRP11_ENST00000589824.2_Missense_Mutation_p.D891H|NLRP11_ENST00000589093.1_Missense_Mutation_p.D945H|NLRP11_ENST00000360133.3_Missense_Mutation_p.D891H NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 945 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) AGTACACAATCTGGGCTGATC 0.353000 11 50 0 0 0.000673444 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40847683 40847683 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr17:40847683C>T ENST00000264638.4 + 19 3354 c.3137C>T c.(3136-3138)cCg>cTg p.P1046L CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 1046 axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) TATGATACTCCGGGCTATGTG 0.657000 15 56 0 0 0.000308642 0 0 APPL2 55198 broad.mit.edu 37 12 105589401 105589401 + Missense_Mutation SNP T T C TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr12:105589401T>C ENST00000258530.3 - 12 1282 c.1057A>G c.(1057-1059)Ata>Gta p.I353V APPL2_ENST00000551662.1_Missense_Mutation_p.I359V|APPL2_ENST00000539978.2_Missense_Mutation_p.I310V NM_001251904.1|NM_018171.3 NP_001238833.1|NP_060641.2 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 353 PH.|Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TGGAGGATTATTCCCCTGAAA 0.408000 15 59 0 0 0.000566183 0 0 TRIML2 205860 broad.mit.edu 37 4 189012783 189012783 + Missense_Mutation SNP C C A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr4:189012783C>A ENST00000512729.1 - 7 1282 c.908G>T c.(907-909)tGg>tTg p.W303L TRIML2_ENST00000326754.3_Missense_Mutation_p.W328L NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 303 B30.2/SPRY. ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) GGGGAAGACCCAGAGAGTCCA 0.552000 35 124 8.4185e-14 7.39986e-13 0.000409698 1 0 HPS4 89781 broad.mit.edu 37 22 26849348 26849348 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr22:26849348C>T ENST00000398145.2 - 14 2594 c.1978G>A c.(1978-1980)Gcc>Acc p.A660T HPS4_ENST00000493455.2_Intron|HPS4_ENST00000402105.3_Missense_Mutation_p.A655T|HPS4_ENST00000336873.5_Missense_Mutation_p.A660T|HPS4_ENST00000398141.1_Missense_Mutation_p.A673T NM_022081.4 NP_071364.4 Q9NQG7 HPS4_HUMAN Hermansky-Pudlak syndrome 4 660 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 32 TTGCAACAGGCGTACACAGCC 0.562000 Hermansky-Pudlak syndrome 16 105 0 0 0.000308642 0 0 PKD1 5310 broad.mit.edu 37 16 2158447 2158447 + Missense_Mutation SNP G G C TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr16:2158447G>C ENST00000262304.4 - 15 6929 c.6721C>G c.(6721-6723)Ctg>Gtg p.L2241V PKD1_ENST00000423118.1_Missense_Mutation_p.L2241V NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 2241 REJ. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CTCTGTGTCAGTGGCGTGTCC 0.652000 13 61 0 0 0.00185496 0 0 ZNF14 7561 broad.mit.edu 37 19 19823301 19823301 + Silent SNP G G T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:19823301G>T ENST00000344099.3 - 4 927 c.789C>A c.(787-789)ccC>ccA p.P263P NM_021030.2 NP_066358.2 P17017 ZNF14_HUMAN zinc finger protein 14 263 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 Renal(1328;0.0474) GAAAGTATGTGGGACAACTGA 0.388000 5 67 0.00116845 0.00968928 0.00116845 1 0 ESPNP 284729 broad.mit.edu 37 1 17023143 17023143 + RNA SNP C C T rs559507 by1000genomes TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr1:17023143C>T ENST00000492551.1 - 0 1720 NR_026567.1 TGTGGGGCTCCGGACTGGTAA 0.692000 4 16 0 0 0.000602214 0 0 EPG5 57724 broad.mit.edu 37 18 43467768 43467768 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr18:43467768C>T ENST00000282041.5 - 29 5091 c.5057G>A c.(5056-5058)cGt>cAt p.R1686H EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1686 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 TGGGGGATGACGCTGCGTCTC 0.448000 16 79 0 0 0.000422831 0 0 AAR2 25980 broad.mit.edu 37 20 34827959 34827959 + Missense_Mutation SNP T T G TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr20:34827959T>G ENST00000373932.3 + 2 515 c.169T>G c.(169-171)Ttc>Gtc p.F57V AAR2_ENST00000320849.4_Missense_Mutation_p.F57V|AAR2_ENST00000397286.3_Missense_Mutation_p.F57V NM_015511.3 NP_056326.2 AAR2 splicing factor homolog (S. cerevisiae) AGGCATCCACTTCCTCCACTA 0.572000 7 81 0 0 8.12818e-05 0 0 HOMEZ 57594 broad.mit.edu 37 14 23746122 23746122 + Silent SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr14:23746122G>A ENST00000357460.5 - 2 479 c.315C>T c.(313-315)gcC>gcT p.A105A HOMEZ_ENST00000561013.1_Silent_p.A107A|HOMEZ_ENST00000431326.2_Silent_p.A107A NM_020834.2 NP_065885.2 Q8IX15 HOMEZ_HUMAN homeobox and leucine zipper encoding 105 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|lung(7) 12 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) GGAGGCGCTGGGCCATAAACC 0.502000 33 201 0 0 0.000339439 0 0 BMS1P20 96610 broad.mit.edu 37 22 22661312 22661312 + RNA SNP T T C rs3855711 TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr22:22661312T>C ENST00000426066.1 + 0 360 NR_027293.1 TGAATTTGTGTAGAACTTTGA 0.473000 3 40 0 0 8.12818e-05 0 0 DDX52 11056 broad.mit.edu 37 17 35981216 35981216 + Missense_Mutation SNP T T C TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr17:35981216T>C ENST00000349699.2 - 11 1500 c.1457A>G c.(1456-1458)aAc>aGc p.N486S DDX52_ENST00000394367.3_Missense_Mutation_p.N378S NM_007010.3 NP_008941.2 Q9Y2R4 DDX52_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 486 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3) 17 Breast(25;0.00637)|Ovarian(249;0.15) AAAGTCATAGTTGATCACCAA 0.433000 17 26 0 0 0.00074312 0 0 CACNA1A 773 broad.mit.edu 37 19 13395974 13395974 + Silent SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:13395974C>T ENST00000360228.5 - 21 3599 c.3600G>A c.(3598-3600)gaG>gaA p.E1200E CACNA1A_ENST00000573710.2_Silent_p.E1201E NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1201 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) cctccttcttctcttcctctt 0.527000 28 43 0 0 0.000339439 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49962338 49962338 + Silent SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:49962338G>A ENST00000293350.4 + 3 478 c.315G>A c.(313-315)ctG>ctA p.L105L ALDH16A1_ENST00000540132.1_Intron|ALDH16A1_ENST00000598015.1_Intron|ALDH16A1_ENST00000455361.2_Silent_p.L105L|ALDH16A1_ENST00000433981.2_Intron NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 105 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) CCCAGCACCTGACCAGGTGAT 0.642000 14 94 0 0 0.000219431 0 0 STAB2 55576 broad.mit.edu 37 12 104069765 104069765 + Missense_Mutation SNP G G T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr12:104069765G>T ENST00000388887.2 + 24 2816 c.2612G>T c.(2611-2613)tGc>tTc p.C871F NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 871 EGF-like 8. 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 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 ATGGACCCTTGCACAGGACTA 0.438000 9 54 7.48243e-07 6.32409e-06 0.000442599 1 0 ZNF799 90576 broad.mit.edu 37 19 12502821 12502821 + Missense_Mutation SNP A A G rs2902319 TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:12502821A>G ENST00000419318.1 - 4 1044 c.295T>C c.(295-297)Tat>Cat p.Y99H CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.Y131H|ZNF799_ENST00000430385.3_Missense_Mutation_p.Y131H|CTD-3105H18.14_ENST00000435033.1_Intron Q96GE5 ZN799_HUMAN zinc finger protein 799 131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Y131H(1) breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TGATACTCATATGGTTTGTGC 0.448000 3 117 0 0 0.00024832 0 0 KIAA0586 9786 broad.mit.edu 37 14 58917303 58917303 + Missense_Mutation SNP T T C TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr14:58917303T>C ENST00000423743.3 + 9 1094 c.836T>C c.(835-837)tTa>tCa p.L279S KIAA0586_ENST00000354386.6_Missense_Mutation_p.L376S|KIAA0586_ENST00000556134.1_Missense_Mutation_p.L308S|KIAA0586_ENST00000261244.5_Missense_Mutation_p.L323S|KIAA0586_ENST00000538571.2_3'UTR NM_001244191.1|NM_001244192.1 NP_001231120.1|NP_001231121.1 E9PGW8 E9PGW8_HUMAN KIAA0586 323 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AAAGCACCTTTAAAAGAAGTT 0.308000 11 38 0 0 0.000978159 0 0 MMP15 4324 broad.mit.edu 37 16 58074525 58074525 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr16:58074525C>T ENST00000219271.3 + 5 1618 c.833C>T c.(832-834)gCg>gTg p.A278V NM_002428.2 NP_002419.1 P51511 MMP15_HUMAN matrix metallopeptidase 15 (membrane-inserted) 278 protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 18 GCCATCATGGCGCCGTTCTAC 0.612000 33 72 0 0 0.000339439 0 0 MUC16 94025 broad.mit.edu 37 19 9088852 9088852 + Missense_Mutation SNP G G T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:9088852G>T ENST00000397910.4 - 1 3166 c.2963C>A c.(2962-2964)tCt>tAt p.S988Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 988 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 AGAAGTGGCAGAGGTTGAAAC 0.463000 55 241 1.19403e-26 1.07098e-25 0.000781405 1 0 MGMT 4255 broad.mit.edu 37 10 131565233 131565233 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr10:131565233C>T ENST00000306010.7 + 5 721 c.689C>T c.(688-690)tCg>tTg p.S230L NM_002412.3 NP_002403.2 B4DEE8 B4DEE8_HUMAN O-6-methylguanine-DNA methyltransferase 230 breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 10 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) GGAGCTACCTCGGGCTCCCCG 0.632000 Direct reversal of damage 6 26 0 0 0.00116845 0 0 RSRC2 65117 broad.mit.edu 37 12 123001845 123001845 + Missense_Mutation SNP C C A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr12:123001845C>A ENST00000331738.7 - 5 676 c.531G>T c.(529-531)agG>agT p.R177S RSRC2_ENST00000354654.2_Missense_Mutation_p.R129S NM_023012.5 NP_075388.2 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 177 Ser-rich. breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2) 24 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) GGGAACGAGACCTGATCCGCC 0.493000 23 123 3.5997e-14 3.1961e-13 0.000295444 1 0 ARHGEF12 23365 broad.mit.edu 37 11 120348886 120348886 + Missense_Mutation SNP C C G TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr11:120348886C>G ENST00000397843.2 + 37 3720 c.3554C>G c.(3553-3555)tCt>tGt p.S1185C ARHGEF12_ENST00000532993.1_Missense_Mutation_p.S1082C|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.S1166C NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1185 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) GGATTAGAATCTACCTTAATA 0.383000 T MLL AML 8 42 0 0 0.000157383 0 0 OR6Q1 219952 broad.mit.edu 37 11 57798843 57798843 + Missense_Mutation SNP T T G TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr11:57798843T>G ENST00000302622.3 + 1 442 c.419T>G c.(418-420)gTg>gGg p.V140G OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) GGGGCTTTTGTGTCCTGGGGC 0.507000 20 124 0 0 0.00121646 0 0 NCAM2 4685 broad.mit.edu 37 21 22804480 22804480 + Silent SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr21:22804480G>A ENST00000400546.1 + 12 1782 c.1533G>A c.(1531-1533)acG>acA p.T511T NCAM2_ENST00000284894.7_Silent_p.T369T NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 511 Fibronectin type-III 1. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) CGCAGACCACGGCCAAGGTTT 0.448000 6 48 0 0 8.12818e-05 0 0 IL17RB 55540 broad.mit.edu 37 3 53883814 53883814 + Missense_Mutation SNP G G A rs145364776 by1000genomes TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr3:53883814G>A ENST00000288167.3 + 3 227 c.218G>A c.(217-219)cGg>cAg p.R73Q NM_018725.3 NP_061195.2 Q9NRM6 I17RB_HUMAN interleukin 17 receptor B 73 defense response|regulation of cell growth extracellular region|integral to plasma membrane cytokine receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) TGGGTACTCCGGGCAGATGGT 0.443000 44 70 0 0 0.000589545 0 0 KCNG4 93107 broad.mit.edu 37 16 84270386 84270386 + Missense_Mutation SNP C C T rs138891680 byFrequency TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr16:84270386C>T ENST00000568181.1 - 2 826 c.706G>A c.(706-708)Gtc>Atc p.V236I KCNG4_ENST00000308251.4_Missense_Mutation_p.V236I Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 236 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 CACAGGCTGACGGCTGTGGTG 0.657000 19 21 0 0 0.00188189 0 0 HIVEP2 3097 broad.mit.edu 37 6 143092672 143092672 + Silent SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr6:143092672C>T ENST00000367603.2 - 5 3946 c.3204G>A c.(3202-3204)acG>acA p.T1068T HIVEP2_ENST00000012134.2_Silent_p.T1068T|HIVEP2_ENST00000367604.1_Silent_p.T1068T NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1068 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) ACGGTGATACCGTGGAGGCTG 0.557000 9 35 0 0 0.000442599 0 0 OR5H15 403274 broad.mit.edu 37 3 97887689 97887689 + Missense_Mutation SNP T T C TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr3:97887689T>C ENST00000356526.2 + 1 146 c.146T>C c.(145-147)aTc>aCc p.I49T NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 ATTGCTGTCATCTGGAAAGAC 0.423000 87 146 0 0 0.000781405 0 0 STYXL1 51657 broad.mit.edu 37 7 75634686 75634686 + Missense_Mutation SNP C C T rs147059565 TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr7:75634686C>T ENST00000451157.1 - 6 659 c.490G>A c.(490-492)Gtg>Atg p.V164M STYXL1_ENST00000248600.1_Missense_Mutation_p.V164M|STYXL1_ENST00000340062.5_Missense_Mutation_p.V68M|STYXL1_ENST00000431581.1_Missense_Mutation_p.V164M|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000359697.3_Missense_Mutation_p.V164M Q9Y6J8 STYL1_HUMAN serine/threonine/tyrosine interacting-like 1 164 Tyrosine-protein phosphatase. intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity p.V164M(1) endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 10 TTCCCTGGCACGATTTCAATG 0.478000 19 49 0 0 0.000958276 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182317 140182317 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr5:140182317C>T ENST00000522353.2 + 1 1535 c.1535C>T c.(1534-1536)gCg>gTg p.A512V PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A512V|PCDHA2_ENST00000520672.2_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGGTACACGCGGAGAGCGGC 0.706000 7 124 0 0 8.12818e-05 0 0 SIRPB1 10326 broad.mit.edu 37 20 1551696 1551696 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr20:1551696C>T ENST00000381605.4 - 4 903 c.839G>A c.(838-840)cGg>cAg p.R280Q SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 280 Ig-like C1-type 2. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CTGTAGTCCCCGGGGGTAGAA 0.537000 38 68 0 0 0.000814825 0 0 CCRN4L 25819 broad.mit.edu 37 4 139965866 139965866 + Silent SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr4:139965866C>T ENST00000280614.2 + 3 727 c.534C>T c.(532-534)ctC>ctT p.L178L ELF2_ENST00000515489.1_Intron NM_012118.2 NP_036250.2 Q9UK39 NOCT_HUMAN CCR4 carbon catabolite repression 4-like (S. cerevisiae) 178 rhythmic process|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity kidney(2)|large_intestine(3)|lung(3)|ovary(1) 9 all_hematologic(180;0.162) GGAAATGTCTCATCCTGGAAG 0.463000 21 74 0 0 0.00188189 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971186 21971186 + Nonsense_Mutation SNP G G A rs121913387 TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr9:21971186G>A ENST00000304494.5 - 2 442 c.172C>T c.(172-174)Cga>Tga p.R58* CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 58 R -> Q (in dbSNP:rs36204273). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCCGCCACTCGGGCGCTGCCC 0.677000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 6 7 0 0 0.000157383 0 0 PAPPA2 60676 broad.mit.edu 37 1 176659381 176659381 + Missense_Mutation SNP G G T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr1:176659381G>T ENST00000367662.3 + 5 3410 c.2246G>T c.(2245-2247)aGt>aTt p.S749I PAPPA2_ENST00000367661.3_Missense_Mutation_p.S749I NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 749 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AAAGGAGTCAGTGAAAGAGAA 0.547000 19 147 5.03518e-11 4.33914e-10 0.000958276 1 0 SZT2 23334 broad.mit.edu 37 1 43905594 43905594 + Missense_Mutation SNP A A G TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr1:43905594A>G ENST00000562955.1 + 50 6914 c.6914A>G c.(6913-6915)aAg>aGg p.K2305R SZT2_ENST00000372442.1_Missense_Mutation_p.K1463R NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2362 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GTGTGGGAAAAGGGGAACATT 0.577000 3 84 0 0 6.4e-05 0 0 TRPV4 59341 broad.mit.edu 37 12 110236702 110236702 + Missense_Mutation SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr12:110236702G>A ENST00000418703.2 - 5 963 c.869C>T c.(868-870)tCg>tTg p.S290L TRPV4_ENST00000537083.1_Missense_Mutation_p.S290L|TRPV4_ENST00000392719.2_Missense_Mutation_p.S243L|TRPV4_ENST00000544971.1_Missense_Mutation_p.S243L|TRPV4_ENST00000261740.2_Missense_Mutation_p.S290L|TRPV4_ENST00000541794.1_Missense_Mutation_p.S243L|TRPV4_ENST00000346520.2_Missense_Mutation_p.S290L|TRPV4_ENST00000536838.1_Missense_Mutation_p.S256L NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 290 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 GGCAGCCAGCGACAGGGGCAG 0.677000 13 58 0 0 0.00185496 0 0 RYR1 6261 broad.mit.edu 37 19 38980889 38980889 + Silent SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:38980889C>T ENST00000355481.4 + 36 6119 c.5988C>T c.(5986-5988)cgC>cgT p.R1996R RYR1_ENST00000360985.3_Silent_p.R1996R|RYR1_ENST00000359596.3_Silent_p.R1996R NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1996 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GACGTACCCGCGAGTTCCGCT 0.572000 14 29 0 0 0.000219431 0 0 BAX 581 broad.mit.edu 37 19 49458947 49458947 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:49458947C>T ENST00000391871.3 + 2 87 c.38C>T c.(37-39)tCa>tTa p.S13L BAX_ENST00000415969.2_Silent_p.F30F|BAX_ENST00000293288.8_Silent_p.F30F|BAX_ENST00000539787.1_Silent_p.F30F|BAX_ENST00000345358.7_Silent_p.F30F|BAX_ENST00000354470.3_Intron Q07812 BAX_HUMAN BCL2-associated X protein 13 activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4) 17 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279) ACTCTAGTTTCATCCAGGATC 0.582000 11 75 0 0 0.00136819 0 0 SLC6A6 6533 broad.mit.edu 37 3 14499524 14499524 + Silent SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr3:14499524C>T ENST00000454876.2 + 6 995 c.666C>T c.(664-666)ctC>ctT p.L222L SLC6A6_ENST00000360861.3_Silent_p.L222L|SLC6A6_ENST00000484191.1_3'UTR P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter transporter), member 6 222 cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 ACCTCGCTCTCTGCCTTCTTT 0.562000 25 101 0 0 0.000720815 0 0 IKBKB 3551 broad.mit.edu 37 8 42175203 42175203 + Missense_Mutation SNP A A T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr8:42175203A>T ENST00000520810.1 + 12 1340 c.1154A>T c.(1153-1155)gAt>gTt p.D385V IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.D383V|IKBKB_ENST00000379708.3_Missense_Mutation_p.D162V|IKBKB_ENST00000416505.2_Missense_Mutation_p.D326V NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 385 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) TTGGACATGGATCTTGTTTTT 0.413000 13 49 0 0 0.00136819 0 0 KCNJ12 3768 broad.mit.edu 37 17 21318845 21318845 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr17:21318845C>T ENST00000583088.1 + 3 1086 c.191C>T c.(190-192)tCa>tTa p.S64L KCNJ12_ENST00000331718.5_Missense_Mutation_p.S64L NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) GACGAGAAGTCACAGCGCTAC 0.592000 Prostate(3;0.18) 5 66 0 0 0.000602214 0 0 ERVW-1 30816 broad.mit.edu 37 7 92099180 92099180 + Silent SNP G G A TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr7:92099180G>A ENST00000493463.2 - 1 1439 c.516C>T c.(514-516)ctC>ctT p.L172L ERVW-1_ENST00000603053.1_Silent_p.L172L|AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000604270.1_Intron NM_014590.3 NP_055405.3 Q9UQF0 ENW1_HUMAN 172 syncytium formation integral to membrane|plasma membrane|virion endometrium(1)|large_intestine(1)|lung(15) 17 ggagcccagtgagggtggtat 0.488000 11 41 0 0 0.000673444 0 0 VPS13D 55187 broad.mit.edu 37 1 12428620 12428620 + Missense_Mutation SNP C C T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr1:12428620C>T ENST00000358136.3 + 53 10676 c.10546C>T c.(10546-10548)Cct>Tct p.P3516S VPS13D_ENST00000356315.4_Missense_Mutation_p.P3491S|VPS13D_ENST00000496628.1_3'UTR NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3515 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GTTACCTCCTCCTTTCCGAAT 0.463000 38 76 0 0 0.00111076 0 0 PCLO 27445 broad.mit.edu 37 7 82584839 82584839 + Missense_Mutation SNP G G T TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr7:82584839G>T ENST00000423517.2 - 5 5767 c.5430C>A c.(5428-5430)gaC>gaA p.D1810E PCLO_ENST00000333891.8_Missense_Mutation_p.D1810E NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1741 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 GTTCATCTTTGTCTTTCTTTG 0.393000 32 145 5.60225e-13 4.87562e-12 0.00178596 1 0 LINC01122 400955 broad.mit.edu 37 2 58687298 58687298 + RNA DEL T T - TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr2:58687298delT ENST00000452840.1 + 0 127 TCTGTGTTTCTTTTTTTTTTC 0.313 4 7 --- --- --- --- AC073321.4 0 broad.mit.edu 37 2 217475031 217475032 + RNA INS - - AAA rs71401156 TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr2:217475031_217475032insAAA ENST00000441803.1 + 0 195 AATTTTATTTCAAAAAAAAAAA 0.376 3 5 --- --- --- --- SFRP1 6422 broad.mit.edu 37 8 41166638 41166640 + In_Frame_Del DEL GCT GCT - rs3055861 TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr8:41166638_41166640delGCT ENST00000220772.3 - 1 376_378 c.39_41delAGC c.(37-42)gcc>gc p.AA13del NM_003012.4 NP_003003.3 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 13 brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) CACGCCCAGGGCTGCCCCGCGGC 0.764 5 7 --- --- --- --- SIRT1 23411 broad.mit.edu 37 10 69644867 69644869 + In_Frame_Del DEL GAG GAG - TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr10:69644867_69644869delGAG ENST00000212015.6 + 1 441_443 c.388_390delGAG c.(388-390)del p.E134del NM_012238.4 NP_036370.2 Q96EB6 SIRT1_HUMAN sirtuin 1 134 Interaction with HIST1H1E.|Poly-Glu. apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 14 cgacgagggcgaggaggaggaag 0.709 2 4 --- --- --- --- OR8J3 81168 broad.mit.edu 37 11 55904668 55904671 + Frame_Shift_Del DEL TGAT TGAT - TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr11:55904668_55904671delTGAT ENST00000301529.1 - 1 523_526 c.524_527delATCA c.(523-528)atfs p.NH175fs NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) ACAGTAAAAATGATTGATTATATT 0.358 11 106 --- --- --- --- EEA1 8411 broad.mit.edu 37 12 93205154 93205158 + Frame_Shift_Del DEL CTTGT CTTGT - TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr12:93205154_93205158delCTTGT ENST00000322349.8 - 17 2360_2364 c.2096_2100delACAAG c.(2095-2100)gfs p.DK699fs NM_003566.3 NP_003557.2 Q15075 EEA1_HUMAN early endosome antigen 1 699 Gln/Glu/Lys-rich. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 AATGTTCTTGCTTGTCTTGTAACTT 0.337 7 38 --- --- --- --- TM9SF2 9375 broad.mit.edu 37 13 100206567 100206570 + Frame_Shift_Del DEL CACC CACC - TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr13:100206567_100206570delCACC ENST00000376387.4 + 14 1688_1691 c.1498_1501delCACC c.(1498-1503)cafs p.HP500fs NM_004800.1 NP_004791.1 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 500 transport endosome membrane|integral to plasma membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2) 17 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) GGCCATTGAACACCCAGTTCGAAC 0.417 23 94 --- --- --- --- TRAV9-2 28677 broad.mit.edu 37 14 22409533 22409539 + RNA DEL CTCTCTC CTCTCTC - rs57759840 TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr14:22409533_22409539delCTCTCTC ENST00000390441.2 + 0 102 ctctctctctctctctctTTTTTTTTT 0.415 7 7 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578446 7578466 + In_Frame_Del DEL TGGCCATGGCGCGGACGCGGG TGGCCATGGCGCGGACGCGGG - rs139200646 TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr17:7578446_7578466delTGGCCATGGCGCGGACGCGGG ENST00000420246.2 - 5 596_616 c.464_484delCCCGCGTCCGCGCCATGGCCA c.(463-486)atc>a p.TRVRAMAI155del TP53_ENST00000455263.2_In_Frame_Del_p.TRVRAMAI155del|TP53_ENST00000445888.2_In_Frame_Del_p.TRVRAMAI155del|TP53_ENST00000413465.2_In_Frame_Del_p.TRVRAMAI155del|TP53_ENST00000269305.4_In_Frame_Del_p.TRVRAMAI155del|TP53_ENST00000359597.4_In_Frame_Del_p.TRVRAMAI155del NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 155 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V157F(161)|p.R158L(77)|p.R158H(74)|p.A161T(54)|p.A159V(33)|p.R156P(24)|p.T155N(22)|p.A159P(19)|p.R158C(17)|p.R158G(16)|p.T155I(14)|p.A161D(11)|p.R156fs*14(11)|p.I162F(10)|p.V157I(10)|p.R156H(10)|p.R158P(9)|p.V157D(8)|p.A159A(8)|p.A161V(8)|p.R26L(8)|p.R65L(8)|p.0?(8)|p.V157G(7)|p.A159T(7)|p.A159D(7)|p.V157L(6)|p.V25F(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.M160I(6)|p.V64F(6)|p.R158fs(6)|p.R158R(6)|p.V157V(5)|p.A159fs*11(5)|p.I162V(5)|p.R26H(5)|p.A161A(5)|p.R65H(5)|p.?(5)|p.T155T(5)|p.A159S(4)|p.R158_A159insX(4)|p.M160K(4)|p.M160V(4)|p.P152fs*14(4)|p.R156S(3)|p.R156R(3)|p.R156fs*25(3)|p.R156G(3)|p.A68T(3)|p.M160fs*10(3)|p.A29T(3)|p.A161fs*9(3)|p.R156L(3)|p.M160L(3)|p.I162fs*10(3)|p.V157fs*13(3)|p.R65fs(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.A27P(2)|p.R26fs(2)|p.R156C(2)|p.A66P(2)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.A159fs*21(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.R65G(2)|p.R158_A159delRA(2)|p.I162fs*19(2)|p.P153fs*22(2)|p.R156_V157del(1)|p.V157A(1)|p.G154_R156delGTR(1)|p.T155fs*25(1)|p.A161P(1)|p.I30fs*10(1)|p.M160_A161>IS(1)|p.V157_R158delVR(1)|p.T155_A161delTRVRAMA(1)|p.A161S(1)|p.A161F(1)|p.A161G(1)|p.A27V(1)|p.V157_C176del20(1)|p.A161fs*19(1)|p.A68D(1)|p.R156_A161delRVRAMA(1)|p.R156fs*20(1)|p.M160T(1)|p.R156del(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.D148_T155delDSTPPPGT(1)|p.R156_V157insV(1)|p.A161fs*20(1)|p.A161fs*8(1)|p.A66V(1)|p.S149fs*72(1)|p.T62N(1)|p.V157_M160delVRAM(1)|p.A161fs*7(1)|p.R65fs*11(1)|p.I69fs*10(1)|p.A29D(1)|p.I162fs*8(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.T62I(1)|p.A161fs*10(1)|p.I162_Y163delIY(1)|p.T23N(1)|p.T23I(1)|p.D148fs*23(1)|p.T155_R156delTR(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)|p.P151_V173del23(1)|p.V157_I162delVRAMAI(1)|p.R156_A161del(1)|p.R158F(1)|p.R158_A159insXX(1)|p.G154fs*22(1)|p.T155S(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGG 0.620 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 10 45 --- --- --- --- PRR12 57479 broad.mit.edu 37 19 50100303 50100305 + In_Frame_Del DEL CGG CGG - TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chr19:50100303_50100305delCGG ENST00000418929.2 + 4 2723_2725 c.2711_2713delCGG c.(2710-2715)tag>t p.SE904del NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 83 Pro-rich. DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CCACCAAACTCGGAGGGCAAGGA 0.690 3 4 --- --- --- --- TKTL1 8277 broad.mit.edu 37 X 153524304 153524305 + Frame_Shift_Ins INS - - GC TCGA-CV-7243-01A-11D-2012-08 TCGA-CV-7243-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc6a2b7c-8a6c-4084-8551-8d1db9072ec2 b3d9813d-2810-4073-b4b8-5675f7105d87 g.chrX:153524304_153524305insGC ENST00000369915.3 + 1 281_282 c.92_93insGC c.(91-93)tcgfs p.S31fs TKTL1_ENST00000217905.7_5'UTR NM_001145933.1|NM_012253.3 NP_001139405.1|NP_036385.3 P51854 TKTL1_HUMAN transketolase-like 1 31 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2) 34 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCCAGCCGCTTGCGAATCCATT 0.614 30 129 --- --- --- ---