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 HMX3 340784 broad.mit.edu 37 10 124896943 124896943 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr10:124896943G>A ENST00000357878.5 + 2 859 c.770G>A c.(769-771)cGa>cAa p.R257Q NM_001105574.1 NP_001099044.1 A6NHT5 HMX3_HUMAN H6 family homeobox 3 257 cell differentiation nucleus sequence-specific DNA binding transcription factor activity lung(4) 4 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141) AGCTCGGAGCGAGCCGGCCTG 0.647000 12 65 0 0 1 0 0 MRPL20 55052 broad.mit.edu 37 1 1342362 1342362 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr1:1342362G>A ENST00000482352.1 - 2 197 c.125C>T c.(124-126)gCg>gTg p.A42V MRPL20_ENST00000344843.7_Missense_Mutation_p.A42V Q9BYC9 RM20_HUMAN mitochondrial ribosomal protein L20 42 protein binding|rRNA binding endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GGTTCTGACCGCCAACCTGTA 0.602000 6 422 0 0 1 0 0 SNX7 51375 broad.mit.edu 37 1 99161197 99161197 + Missense_Mutation SNP A A G TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr1:99161197A>G ENST00000370189.5 + 6 935 c.571A>G c.(571-573)Aac>Gac p.N191D SNX7_ENST00000529992.1_Missense_Mutation_p.N200D|SNX7_ENST00000306121.3_Missense_Mutation_p.N255D Q9UNH6 SNX7_HUMAN sorting nexin 7 191 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 13 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) GGAAATGAATAACTTTATTGA 0.383000 23 113 0 0 1 0 0 KRTAP10-4 386672 broad.mit.edu 37 21 45993723 45993723 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr21:45993723G>A ENST00000400374.3 + 1 118 c.88G>A c.(88-90)Gac>Aac p.D30N TSPEAR_ENST00000323084.4_Intron NM_198687.1 NP_941960.1 P60372 KR104_HUMAN keratin associated protein 10-4 30 keratin filament NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 CTGGCAGGTGGACGACTGCCC 0.682000 27 99 0 0 1 0 0 GADD45G 10912 broad.mit.edu 37 9 92220945 92220945 + Missense_Mutation SNP A A C TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr9:92220945A>C ENST00000252506.6 + 4 540 c.431A>C c.(430-432)gAg>gCg p.E144A GADD45G_ENST00000375769.1_Missense_Mutation_p.E126A|GADD45G_ENST00000494726.1_3'UTR NM_006705.3 NP_006696.1 O95257 GA45G_HUMAN growth arrest and DNA-damage-inducible, gamma 144 activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development protein binding lung(2) 2 TTTTGCGAGGAGAGCCGCAGC 0.682000 4 30 0 0 1 0 0 STAC2 342667 broad.mit.edu 37 17 37368614 37368614 + Silent SNP G G A rs147042988 TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr17:37368614G>A ENST00000333461.5 - 11 1536 c.1167C>T c.(1165-1167)gaC>gaT p.D389D NM_198993.3 NP_945344.1 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 389 intracellular signal transduction metal ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2) 17 GGATGAAGCCGTCAGCATCCT 0.637000 5 33 0 0 1 0 0 CCDC180 100499483 broad.mit.edu 37 9 100075586 100075586 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr9:100075586G>A ENST00000375202.2 + 19 1902 c.550G>A c.(550-552)Gct>Act p.A184T CCDC180_ENST00000411667.2_Missense_Mutation_p.A184T|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Missense_Mutation_p.A323T|CCDC180_ENST00000357054.1_Missense_Mutation_p.A323T|CCDC180_ENST00000529487.1_Missense_Mutation_p.A184T|RP11-23J9.4_ENST00000534123.1_RNA coiled-coil domain containing 180 CTACGAGAGCGCTCTGGCCAG 0.542000 18 135 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70446282 70446282 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr10:70446282G>A ENST00000373644.4 + 11 5431 c.5222G>A c.(5221-5223)cGc>cAc p.R1741H NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 1741 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 GCACCCCGCCGCAAAAAAAGA 0.498000 4 120 0 0 1 0 0 ZAP70 7535 broad.mit.edu 37 2 98354062 98354062 + Silent SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr2:98354062G>A ENST00000264972.5 + 11 1631 c.1416G>A c.(1414-1416)cgG>cgA p.R472R ZAP70_ENST00000442208.1_Silent_p.R346R|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.R165R NM_001079.3 NP_001070.2 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa 472 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 TGGTTAACCGGCACTACGCCA 0.597000 3 68 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80101317 80101317 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr2:80101317C>T ENST00000466387.1 + 10 1425 c.701C>T c.(700-702)gCc>gTc p.A234V CTNNA2_ENST00000361291.4_Missense_Mutation_p.A268V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A234V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A234V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A234V|CTNNA2_ENST00000402739.4_Missense_Mutation_p.A234V P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 234 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CCAGATGTCGCCGCTACGAGA 0.582000 38 78 0 0 1 0 0 TTI1 9675 broad.mit.edu 37 20 36631033 36631033 + Silent SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr20:36631033C>T ENST00000373448.2 - 5 2887 c.2649G>A c.(2647-2649)ctG>ctA p.L883L TTI1_ENST00000373447.3_Silent_p.L883L|TTI1_ENST00000449821.1_Silent_p.L883L NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 883 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 CACTGACCTTCAGGCGGATTT 0.532000 29 116 0 0 1 0 0 MAS1L 116511 broad.mit.edu 37 6 29455445 29455445 + Missense_Mutation SNP C C A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr6:29455445C>A ENST00000377127.3 - 1 293 c.235G>T c.(235-237)Gcc>Tcc p.A79S NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 79 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 GCCTTGGGGGCAATGATATTC 0.512000 24 67 3.08376e-08 3.39473e-08 1 1 0 FAIM 55179 broad.mit.edu 37 3 138351800 138351800 + Missense_Mutation SNP C C A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr3:138351800C>A ENST00000338446.4 + 6 1204 c.521C>A c.(520-522)aCt>aAt p.T174N FAIM_ENST00000393035.2_Missense_Mutation_p.T140N|FAIM_ENST00000393034.2_Missense_Mutation_p.T140N|FAIM_ENST00000464668.1_Missense_Mutation_p.T140N|FAIM_ENST00000360570.3_Missense_Mutation_p.T162N NM_001033030.1 NP_001028202.1 Q9NVQ4 FAIM1_HUMAN Fas apoptotic inhibitory molecule 140 apoptosis cytoplasm kidney(1)|upper_aerodigestive_tract(1) 2 GGGACTGAAACTCACTTCAGT 0.413000 68 123 1.93348e-29 2.30259e-29 1 1 0 KMT2B 9757 broad.mit.edu 37 19 36214909 36214909 + Splice_Site SNP G G T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr19:36214909G>T ENST00000222270.7 + 8 3334 c.e8+1 KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Splice_Site NM_014727.1 NP_055542.1 CGAGAAAATGGTGCGAACTGC 0.552000 5 41 2.0095e-06 2.15774e-06 1 1 0 UNC80 285175 broad.mit.edu 37 2 210642247 210642247 + Silent SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr2:210642247C>T ENST00000439458.1 + 4 644 c.564C>T c.(562-564)ttC>ttT p.F188F UNC80_ENST00000272845.5_Silent_p.F188F|UNC80_ENST00000478701.1_3'UTR NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 188 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 TGGAGCTCTTCGTGTTTCTGT 0.502000 71 124 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42049362 42049362 + Missense_Mutation SNP G G T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr1:42049362G>T ENST00000372584.1 - 3 2121 c.1107C>A c.(1105-1107)agC>agA p.S369R HIVEP3_ENST00000429157.2_Missense_Mutation_p.S369R|HIVEP3_ENST00000372583.1_Missense_Mutation_p.S369R|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S369R NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 369 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TCTTCCTCTCGCTTAAGCGGA 0.557000 4 170 1 1 1 1 0 SSPO 23145 broad.mit.edu 37 7 149510810 149510810 + RNA SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr7:149510810C>T ENST00000378016.2 + 0 10095 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CGGGTCACTGCAGCTGCCTGG 0.697000 13 39 0 0 1 0 0 USP17L2 377630 broad.mit.edu 37 8 11996046 11996046 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr8:11996046G>A ENST00000333796.3 - 1 540 c.224C>T c.(223-225)cCt>cTt p.P75L FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 75 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 CACCGCAGCAGGTCTCCTGCT 0.572000 15 346 0 0 1 0 0 ELP4 26610 broad.mit.edu 37 11 31671745 31671745 + Silent SNP A A G TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr11:31671745A>G ENST00000395934.2 + 9 1126 c.1119A>G c.(1117-1119)ttA>ttG p.L373L Z83001.1_ENST00000429821.1_RNA|ELP4_ENST00000350638.5_Silent_p.L373L|ELP4_ENST00000379163.5_Silent_p.L374L Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 373 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) CTTTTAAATTAAAAAGGAAGC 0.269000 16 69 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111430849 111430849 + Silent SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr4:111430849G>A ENST00000265162.5 + 5 1422 c.1080G>A c.(1078-1080)gaG>gaA p.E360E NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 360 Substrate binding (By similarity). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) GTGCCATGGAGAACTGGGGAC 0.443000 25 132 0 0 1 0 0 CD55 1604 broad.mit.edu 37 1 207532966 207532966 + Missense_Mutation SNP G G T rs55963761 TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr1:207532966G>T ENST00000314754.8 + 11 1340 c.1275G>T c.(1273-1275)gaG>gaT p.E425D CD55_ENST00000367067.4_3'UTR|CD55_ENST00000391920.4_3'UTR|CD55_ENST00000367065.5_Missense_Mutation_p.E424D|CD55_ENST00000367064.3_3'UTR|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000367062.4_3'UTR|CD55_ENST00000391921.4_3'UTR NM_001114752.1 NP_001108224.1 P08174 DAF_HUMAN CD55 molecule, decay accelerating factor for complement (Cromer blood group) 0 complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 Chloramphenicol(DB00446) CCAAAGAAGAGTTAAGAAGAA 0.353000 3 72 1 1 1 1 0 DLG4 1742 broad.mit.edu 37 17 7099547 7099547 + Silent SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr17:7099547G>A ENST00000399510.2 - 13 2274 c.1422C>T c.(1420-1422)ttC>ttT p.F474F DLG4_ENST00000399506.2_Silent_p.F431F|DLG4_ENST00000302955.6_Silent_p.F428F NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 431 SH3. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 ACCTGATGTAGAAACCCCTTT 0.642000 5 85 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9088876 9088876 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr19:9088876G>A ENST00000397910.4 - 1 3142 c.2939C>T c.(2938-2940)tCa>tTa p.S980L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 980 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S980L(2) 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 GGTTGTTGCTGAAGGTAACCC 0.458000 86 307 0 0 1 0 0 PLIN1 5346 broad.mit.edu 37 15 90213327 90213327 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr15:90213327G>A ENST00000300055.5 - 5 647 c.482C>T c.(481-483)gCg>gTg p.A161V PLIN1_ENST00000430628.2_Missense_Mutation_p.A161V NM_002666.4 NP_002657.3 O60240 PLIN1_HUMAN perilipin 1 161 triglyceride catabolic process lipid particle lipid binding p.A161V(1) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2) 13 AGCAAATTCCGCAGTGTCTCT 0.627000 9 37 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201012531 201012531 + Silent SNP G G T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr1:201012531G>T ENST00000362061.3 - 40 5152 c.4926C>A c.(4924-4926)gtC>gtA p.V1642V CACNA1S_ENST00000367338.3_Silent_p.V1623V NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1642 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CCTCCAAGAAGACAGGTGACT 0.542000 OREG0014067 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 112 3.11337e-16 3.51597e-16 1 1 0 MAP2K1 5604 broad.mit.edu 37 15 66727455 66727455 + Missense_Mutation SNP G G T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr15:66727455G>T ENST00000307102.5 + 2 702 c.171G>T c.(169-171)aaG>aaT p.K57N NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 57 activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|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 cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity p.K57N(3) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 TTACCCAGAAGCAGAAGGTGG 0.542000 47 286 4.18559e-23 4.85232e-23 1 1 0 FHOD1 29109 broad.mit.edu 37 16 67272317 67272317 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr16:67272317C>T ENST00000258201.4 - 4 654 c.407G>A c.(406-408)cGc>cAc p.R136H FHOD1_ENST00000567687.1_Intron NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 136 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) GAGGGAGCGGCGGAGCTCAGG 0.542000 13 39 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40743859 40743859 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr20:40743859G>A ENST00000373198.3 - 23 3380 c.3145C>T c.(3145-3147)Cgc>Tgc p.R1049C PTPRT_ENST00000373193.3_Missense_Mutation_p.R1030C|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1037C|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1036C|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1026C|PTPRT_ENST00000373187.1_Missense_Mutation_p.R1027C|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1017C NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1027 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GTGAAGGTGCGTATGACGTAT 0.512000 31 133 0 0 1 0 0 BTBD3 22903 broad.mit.edu 37 20 11903288 11903288 + Missense_Mutation SNP C C G TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr20:11903288C>G ENST00000405977.1 + 5 1168 c.543C>G c.(541-543)atC>atG p.I181M BTBD3_ENST00000378226.2_Missense_Mutation_p.I181M|BTBD3_ENST00000254977.3_Missense_Mutation_p.I120M|BTBD3_ENST00000488503.1_3'UTR|BTBD3_ENST00000399006.2_Missense_Mutation_p.I120M Q9Y2F9 BTBD3_HUMAN BTB (POZ) domain containing 3 181 BTB. breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 ACAGATATATCTATTGTGATG 0.388000 27 132 0 0 1 0 0 GCC1 79571 broad.mit.edu 37 7 127222240 127222240 + Missense_Mutation SNP T T C TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr7:127222240T>C ENST00000321407.2 - 2 2580 c.2156A>G c.(2155-2157)aAt>aGt p.N719S NM_024523.5 NP_078799.2 Q96CN9 GCC1_HUMAN GRIP and coiled-coil domain containing 1 719 GRIP. Golgi membrane|plasma membrane protein binding breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GTACTCCAGATTGGCTCCCTC 0.567000 43 173 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 4 103 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51203960 51203960 + Silent SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr7:51203960C>T ENST00000395542.2 - 7 1111 c.927G>A c.(925-927)tcG>tcA p.S309S COBL_ENST00000395540.2_Silent_p.S284S|COBL_ENST00000441453.1_Silent_p.S284S|COBL_ENST00000265136.7_Silent_p.S284S O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 284 Pro-rich. p.S284S(1) NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) TGCTGCCCAGCGAGAGGGATG 0.577000 14 69 0 0 1 0 0 KNTC1 9735 broad.mit.edu 37 12 123103082 123103082 + Translation_Start_Site SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr12:123103082G>A ENST00000436959.3 + 0 1753 KNTC1_ENST00000450485.2_Missense_Mutation_p.A972T|KNTC1_ENST00000333479.7_Missense_Mutation_p.A2047T|KNTC1_ENST00000537348.1_3'UTR P50748 KNTC1_HUMAN kinetochore associated 1 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) GAGTCTCATCGCTGTCCTCGA 0.338000 19 57 0 0 1 0 0 IGHA2 3494 broad.mit.edu 37 14 106054658 106054658 + RNA SNP T T G rs114771275 by1000genomes TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr14:106054658T>G ENST00000390539.2 - 0 74 GGACCAGGCATGCGACGACCA 0.622000 4 83 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152191224 152191224 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr1:152191224C>T ENST00000368801.2 - 3 2956 c.2881G>A c.(2881-2883)Ggc>Agc p.G961S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 961 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACCTAGAGCCGTGTTGTTCG 0.537000 102 382 0 0 1 0 0 GLI1 2735 broad.mit.edu 37 12 57862003 57862003 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr12:57862003C>T ENST00000228682.2 + 10 1395 c.1304C>T c.(1303-1305)gCc>gTc p.A435V GLI1_ENST00000546141.1_Missense_Mutation_p.A394V|GLI1_ENST00000543426.1_Missense_Mutation_p.A307V NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 435 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CCAGAGGGTGCCATGGTGAGA 0.582000 3 57 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100696279 100696279 + Silent SNP G G A rs146965923 TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr7:100696279G>A ENST00000306151.4 + 10 13180 c.13116G>A c.(13114-13116)acG>acA p.T4372T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4372 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCGTGACCACGGAAACTCACT 0.602000 19 102 0 0 1 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140741347 140741347 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr5:140741347C>T ENST00000522605.1 + 1 1645 c.1645C>T c.(1645-1647)Cgc>Tgc p.R549C PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGAGCCTGCGCGTGTTAGT 0.697000 21 103 0 0 1 0 0 ARID5B 84159 broad.mit.edu 37 10 63852230 63852230 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr10:63852230C>T ENST00000279873.7 + 10 3418 c.3008C>T c.(3007-3009)cCg>cTg p.P1003L ARID5B_ENST00000309334.5_Missense_Mutation_p.P760L NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 1003 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding p.P1003Q(1) NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) AAAATGAGCCCGCAGAACATT 0.552000 38 207 0 0 1 0 0 DAZL 1618 broad.mit.edu 37 3 16640104 16640104 + Splice_Site SNP G G T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr3:16640104G>T ENST00000250863.8 - 2 352 c.63_splice c.e2-1 p.S22_splice DAZL_ENST00000399444.2_Splice_Site_p.S2_splice NM_001190811.1 NP_001177740.1 Q92904 DAZL_HUMAN deleted in azoospermia-like 2 germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm|nucleus nucleotide binding|protein binding|RNA binding|translation activator activity RAF1/DAZL(2) endometrium(1)|large_intestine(3)|lung(4)|prostate(3) 11 ATTTGCAGTAGACTGTAATTT 0.353000 5 225 0.0215528 0.0225873 1 1 0 FBXL2 25827 broad.mit.edu 37 3 33425643 33425643 + Nonsense_Mutation SNP G G T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr3:33425643G>T ENST00000484457.1 + 14 1205 c.1114G>T c.(1114-1116)Gag>Tag p.E372* FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000542085.1_Nonsense_Mutation_p.E82*|FBXL2_ENST00000538892.1_Nonsense_Mutation_p.E304*|FBXL2_ENST00000538181.1_Nonsense_Mutation_p.E288*|FBXL2_ENST00000446237.3_Nonsense_Mutation_p.E113*|FBXL2_ENST00000507198.1_Nonsense_Mutation_p.E304* NM_012157.3 NP_036289.3 Q9UKC9 FBXL2_HUMAN F-box and leucine-rich repeat protein 2 372 interspecies interaction between organisms|proteolysis cytoplasm|membrane protein binding|ubiquitin-protein ligase activity endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1) 15 GGAGCGCCTCGAGCTGTACGA 0.592000 3 118 1 1 1 1 0 KIAA1210 57481 broad.mit.edu 37 X 118217058 118217058 + Missense_Mutation SNP T T C TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chrX:118217058T>C ENST00000402510.2 - 13 4873 c.4874A>G c.(4873-4875)cAa>cGa p.Q1625R NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1625 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 CTTTTTAGGTTGGTTTTCATT 0.388000 34 61 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126708596 126708596 + Nonsense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr3:126708596G>A ENST00000393409.2 + 1 1160 c.1160G>A c.(1159-1161)tGg>tAg p.W387* PLXNA1_ENST00000251772.4_Nonsense_Mutation_p.W364* NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 387 Sema. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) TCCCTGCCGTGGCTGCTCAAC 0.642000 32 91 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38939326 38939326 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr19:38939326G>A ENST00000355481.4 + 11 1126 c.995G>A c.(994-996)gGc>gAc p.G332D RYR1_ENST00000360985.3_Missense_Mutation_p.G332D|RYR1_ENST00000359596.3_Missense_Mutation_p.G332D NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 332 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) GATGTGGAGGGCATGGGCCCC 0.637000 41 164 0 0 1 0 0 ZNF518A 9849 broad.mit.edu 37 10 97917661 97917661 + RNA SNP G G T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr10:97917661G>T ENST00000534948.1 + 0 2439 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) AGCAAGTTCAGAAAAAGAAAT 0.323000 36 223 4.65686e-17 5.30478e-17 1 1 0 GPLD1 2822 broad.mit.edu 37 6 24437400 24437400 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr6:24437400C>T ENST00000230036.1 - 21 2248 c.2138G>A c.(2137-2139)cGc>cAc p.R713H NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 713 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 GGAGAAGCGGCGGTCTCCGCT 0.562000 22 116 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80620359 80620359 + Silent SNP T T C TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr2:80620359T>C ENST00000466387.1 + 12 1804 c.1080T>C c.(1078-1080)gaT>gaC p.D360D CTNNA2_ENST00000361291.4_Silent_p.D394D|CTNNA2_ENST00000343114.3_Silent_p.D39D|CTNNA2_ENST00000540488.1_Silent_p.D360D|CTNNA2_ENST00000496558.1_Silent_p.D360D|CTNNA2_ENST00000541047.1_Silent_p.D360D|CTNNA2_ENST00000402739.4_Silent_p.D360D P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 360 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 AAAAAGGAGATCCTCTCAACA 0.284000 63 118 0 0 1 0 0 SHB 6461 broad.mit.edu 37 9 37919970 37919970 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr9:37919970C>T ENST00000377707.3 - 6 1943 c.1378G>A c.(1378-1380)Gcc>Acc p.A460T RP11-613M10.9_ENST00000540557.1_Intron NM_003028.2 NP_003019.2 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein B 460 SH2. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) TTGGTTTTGGCCAGTTTCATG 0.502000 5 161 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69948722 69948722 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr10:69948722C>T ENST00000358913.5 + 13 3252 c.2764C>T c.(2764-2766)Cgt>Tgt p.R922C MYPN_ENST00000540630.1_Missense_Mutation_p.R922C|MYPN_ENST00000354393.2_Missense_Mutation_p.R647C NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 922 nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 TCGCTTGGAACGTACTCCTGT 0.413000 15 63 0 0 1 0 0 HAVCR1 26762 broad.mit.edu 37 5 156456763 156456763 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr5:156456763C>T ENST00000339252.3 - 8 1608 c.1076G>A c.(1075-1077)aGt>aAt p.S359N HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000544197.1_Missense_Mutation_p.S359N|HAVCR1_ENST00000523175.1_Missense_Mutation_p.S359N|HAVCR1_ENST00000425854.1_Missense_Mutation_p.V348I|HAVCR1_ENST00000522693.1_Missense_Mutation_p.V348I NM_012206.2 NP_036338.2 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 354 interspecies interaction between organisms integral to membrane receptor activity endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGCATAAAGACTATTCTCAAT 0.408000 15 61 0 0 1 0 0 TTC7B 145567 broad.mit.edu 37 14 91142993 91142993 + Silent SNP G G A rs149388931 TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr14:91142993G>A ENST00000357056.2 - 9 1147 c.1026C>T c.(1024-1026)gaC>gaT p.D342D TTC7B_ENST00000328459.6_Silent_p.D342D Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 342 binding p.D342D(1) NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 36 Melanoma(154;0.222) TCAGCACAGCGTCCCGGTTGG 0.532000 17 98 0 0 1 0 0 DOCK9 23348 broad.mit.edu 37 13 99554563 99554563 + Silent SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr13:99554563G>A ENST00000376460.1 - 12 1439 c.1359C>T c.(1357-1359)gcC>gcT p.A453A DOCK9_ENST00000339416.2_Silent_p.A454A|DOCK9_ENST00000448493.2_Silent_p.A465A|DOCK9_ENST00000442173.1_Silent_p.A453A NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 454 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ACTGCATGGCGGCTTCATGAA 0.532000 15 49 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157528080 157528080 + Silent SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr6:157528080G>A ENST00000346085.5 + 20 5806 c.5805G>A c.(5803-5805)gcG>gcA p.A1935A ARID1B_ENST00000350026.5_Silent_p.A1922A|ARID1B_ENST00000367148.1_Silent_p.A1975A|ARID1B_ENST00000275248.4_Silent_p.A1917A NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1922 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GTACCATCGCGCACTGGCAGG 0.537000 37 147 0 0 1 0 0 SLC26A4 5172 broad.mit.edu 37 7 107330644 107330644 + Missense_Mutation SNP C C T rs147952620 by1000genomes TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr7:107330644C>T ENST00000265715.3 + 10 1449 c.1225C>T c.(1225-1227)Cgc>Tgc p.R409C NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 409 R -> H (in PDS).|R -> P (in DFNB4). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 TGCTCTTTCCCGCACGGCCGT 0.493000 Pendred syndrome 42 145 0 0 1 0 0 WASH3P 374666 broad.mit.edu 37 15 102516473 102516473 + RNA SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr15:102516473G>A ENST00000557932.1 + 0 1421 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 ATCCTAGGGGGCTCCATGACA 0.642000 4 63 0 0 1 0 0 NCBP1 4686 broad.mit.edu 37 9 100424349 100424349 + Silent SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr9:100424349G>A ENST00000375147.3 + 17 1882 c.1626G>A c.(1624-1626)ttG>ttA p.L542L NM_002486.4 NP_002477.1 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa 542 gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex protein binding|RNA cap binding NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4) 19 Acute lymphoblastic leukemia(62;0.158) TTAACCCATTGAAAATAGAAG 0.373000 12 96 0 0 1 0 0 CHRD 8646 broad.mit.edu 37 3 184101432 184101432 + Splice_Site SNP T T C TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr3:184101432T>C ENST00000204604.1 + 12 1686 c.e12+2 CHRD_ENST00000450923.1_Splice_Site|CHRD_ENST00000545352.1_Splice_Site|CHRD_ENST00000348986.3_Intron|EIF2B5_ENST00000444495.1_Intron NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGACACACGGTGAGGGCTCCA 0.607000 10 87 0 0 1 0 0 VAV3 10451 broad.mit.edu 37 1 108292090 108292090 + Missense_Mutation SNP G G T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr1:108292090G>T ENST00000370056.4 - 14 1660 c.1386C>A c.(1384-1386)aaC>aaA p.N462K VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.N462K|VAV3_ENST00000371846.4_Missense_Mutation_p.N397K NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 462 PH. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) TCACCTTTTTGTTTTCTTTAT 0.289000 3 76 1 1 1 1 0 SESTD1 91404 broad.mit.edu 37 2 179979882 179979882 + Silent SNP C C A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr2:179979882C>A ENST00000428443.3 - 16 2065 c.1749G>T c.(1747-1749)ctG>ctT p.L583L NM_178123.4 NP_835224.3 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 583 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) ATACTCTGTTCAGTCGAGGAA 0.433000 21 66 4.96729e-08 5.42262e-08 1 1 0 ITGAL 3683 broad.mit.edu 37 16 30510407 30510407 + Silent SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr16:30510407G>A ENST00000356798.6 + 16 2025 c.1845G>A c.(1843-1845)gtG>gtA p.V615V ITGAL_ENST00000358164.5_Silent_p.V532V|ITGAL_ENST00000433423.2_Intron|RP11-297C4.1_ENST00000563751.1_RNA NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 615 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) CCCGGCCCGTGGTGGATATGG 0.567000 11 49 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46903411 46903411 + Nonsense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr11:46903411G>A ENST00000378623.1 - 20 2898 c.2656C>T c.(2656-2658)Cga>Tga p.R886* NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 886 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) ATGCCAGCTCGTTCAATCTTG 0.507000 25 85 0 0 1 0 0 SCFD1 23256 broad.mit.edu 37 14 31099754 31099754 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr14:31099754G>A ENST00000458591.2 + 3 431 c.204G>A c.(202-204)atG>atA p.M68I SCFD1_ENST00000396629.2_Intron|SCFD1_ENST00000544052.2_Start_Codon_SNP_p.M1I|SCFD1_ENST00000421551.3_Intron|SCFD1_ENST00000541123.1_5'UTR NM_016106.3 NP_057190.2 Q8WVM8 SCFD1_HUMAN sec1 family domain containing 1 68 post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane syntaxin-5 binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1) 13 Hepatocellular(127;0.0877) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119) GBM - Glioblastoma multiforme(265;0.0181) TAAGAGACATGGGAATCACTC 0.318000 29 140 0 0 1 0 0 CLDN17 26285 broad.mit.edu 37 21 31538657 31538657 + Silent SNP G G A rs138854149 TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr21:31538657G>A ENST00000286808.3 - 1 314 c.279C>T c.(277-279)atC>atT p.I93I NM_012131.2 NP_036263.1 P56750 CLD17_HUMAN claudin 17 93 calcium-independent cell-cell adhesion|tight junction assembly Golgi apparatus|integral to membrane|tight junction identical protein binding|structural molecule activity NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 23 TAAGCAGGGCGATCAAGGAGA 0.557000 32 105 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 6903213 6903213 + Silent SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr3:6903213G>A ENST00000486284.1 + 1 412 c.138G>A c.(136-138)gaG>gaA p.E46E GRM7_ENST00000389336.4_Silent_p.E46E|GRM7_ENST00000403881.1_Silent_p.E46E|GRM7_ENST00000402647.2_Silent_p.E46E|GRM7_ENST00000357716.4_Silent_p.E46E NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 46 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TCCGGATCGAGGGGGACGTCA 0.692000 3 12 0 0 1 0 0 ZNF610 162963 broad.mit.edu 37 19 52856994 52856994 + Silent SNP G G C TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr19:52856994G>C ENST00000601151.1 + 4 575 c.123G>C c.(121-123)ctG>ctC p.L41L ZNF610_ENST00000327920.8_Silent_p.L41L|ZNF610_ENST00000321287.8_Silent_p.L41L|ZNF610_ENST00000403906.3_Silent_p.L41L NM_001161427.1 NP_001154899.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 41 KRAB. 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) GGAAATCCCTGGACCCTGGAC 0.493000 32 140 0 0 1 0 0 GPR45 11250 broad.mit.edu 37 2 105858997 105858997 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr2:105858997C>T ENST00000258456.1 + 1 798 c.682C>T c.(682-684)Cgc>Tgc p.R228C NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 228 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 GAACGCCGTGCGCGTGCACAA 0.652000 5 150 0 0 1 0 0 FAM101A 144347 broad.mit.edu 37 12 124798975 124798975 + Nonsense_Mutation SNP C C A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr12:124798975C>A ENST00000389727.3 + 3 555 c.555C>A c.(553-555)tgC>tgA p.C185* FAM101A_ENST00000338359.4_Nonsense_Mutation_p.C104*|FAM101A_ENST00000324038.3_Nonsense_Mutation_p.C104*|FAM101A_ENST00000546355.1_Nonsense_Mutation_p.C104* Q6ZTI6 F101A_HUMAN family with sequence similarity 101, member A 185 endometrium(1)|kidney(1)|lung(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059) CCCTGCACTGCAGCCTGGGCC 0.706000 11 45 0.000673444 0.000717245 1 1 0 VPS13C 54832 broad.mit.edu 37 15 62299547 62299547 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr15:62299547G>A ENST00000261517.5 - 15 1323 c.1250C>T c.(1249-1251)aCa>aTa p.T417I VPS13C_ENST00000395896.4_Missense_Mutation_p.T417I|VPS13C_ENST00000249837.3_Missense_Mutation_p.T374I|VPS13C_ENST00000395898.3_Missense_Mutation_p.T374I NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 417 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TTTAGACTGTGTTAACTTGTT 0.313000 11 73 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130921701 130921701 + Missense_Mutation SNP C C T rs139344487 byFrequency TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr12:130921701C>T ENST00000261655.4 - 10 1904 c.1741G>A c.(1741-1743)Gtt>Att p.V581I RIMBP2_ENST00000535703.1_Missense_Mutation_p.V489I|RIMBP2_ENST00000536002.1_Missense_Mutation_p.V489I NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 581 cell junction|synapse p.V581I(1) NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TCGGGGGGAACGGCAGCAACT 0.662000 7 8 0 0 1 0 0 PPFIBP2 8495 broad.mit.edu 37 11 7670058 7670058 + Missense_Mutation SNP A A T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr11:7670058A>T ENST00000299492.4 + 19 2213 c.1825A>T c.(1825-1827)Agg>Tgg p.R609W PPFIBP2_ENST00000528883.1_Missense_Mutation_p.R497W|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.R466W|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.R451W NM_003621.3 NP_003612.2 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) 609 SAM 1. cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) CCCACTCCACAGGAAGAAGCT 0.448000 57 233 0 0 1 0 0 PRDM1 639 broad.mit.edu 37 6 106552717 106552717 + Silent SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr6:106552717C>T ENST00000369096.4 + 5 916 c.682C>T c.(682-684)Cta>Tta p.L228L PRDM1_ENST00000369091.2_Silent_p.L192L|PRDM1_ENST00000369089.3_Silent_p.L94L NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 228 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) ACAGAGCAGTCTAAAGCAACC 0.448000 """D, N, Mis, F, S""" DLBCL 70 332 0 0 1 0 0 RCBTB2 1102 broad.mit.edu 37 13 49076887 49076887 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr13:49076887C>T ENST00000344532.3 - 11 1513 c.1090G>A c.(1090-1092)Gcc>Acc p.A364T RCBTB2_ENST00000544492.1_Missense_Mutation_p.A90T|RCBTB2_ENST00000430805.2_Missense_Mutation_p.A369T|RCBTB2_ENST00000544904.1_3'UTR NM_001268.2 NP_001259.1 O95199 RCBT2_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 364 Ran guanyl-nucleotide exchange factor activity p.A364S(2) breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) CACGTGACGGCGGGCGTGGCA 0.592000 27 119 0 0 1 0 0 KDELC2 143888 broad.mit.edu 37 11 108350193 108350193 + Silent SNP G G T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr11:108350193G>T ENST00000434945.2 - 5 1262 c.960C>A c.(958-960)acC>acA p.T320T KDELC2_ENST00000375648.1_Silent_p.T320T|KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000323468.5_Silent_p.T376T Q7Z4H8 KDEL2_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 2 376 endoplasmic reticulum lumen p.T376T(1) breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14) AAGCAGCCACGGTCCCATCCA 0.408000 13 72 2.39187e-15 2.67808e-15 1 1 0 CSNK1A1P1 161635 broad.mit.edu 37 15 37109441 37109441 + RNA SNP C C A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr15:37109441C>A ENST00000430593.3 - 0 781 NR_027320.1 CTGCTTTCTGCTTTAACTTTG 0.473000 15 69 1.99824e-07 2.16338e-07 1 1 0 TNFRSF25 8718 broad.mit.edu 37 1 6521694 6521694 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr1:6521694G>A ENST00000377782.3 - 10 1148 c.1081C>T c.(1081-1083)Cgc>Tgc p.R361C TNFRSF25_ENST00000348333.3_Missense_Mutation_p.R307C|TNFRSF25_ENST00000351748.3_Missense_Mutation_p.R169C|TNFRSF25_ENST00000356876.3_Missense_Mutation_p.R352C|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.R315C NM_148965.1 NP_683866.1 Q93038 TNR25_HUMAN tumor necrosis factor receptor superfamily, member 25 352 Death. apoptosis|induction of apoptosis by extracellular signals cytosol|extracellular region|integral to plasma membrane tumor necrosis factor receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1) 10 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419) CCCAGCGTGCGCACGAACTCC 0.687000 8 35 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142098954 142098954 + Silent SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr3:142098954G>A ENST00000264951.4 - 23 2802 c.2685C>T c.(2683-2685)ccC>ccT p.P895P XRN1_ENST00000392981.2_Silent_p.P895P NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 895 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 CATCAAGATTGGGTTCACATG 0.328000 19 79 0 0 1 0 0 CRYZ 1429 broad.mit.edu 37 1 75172795 75172795 + Nonsense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr1:75172795G>A ENST00000417775.1 - 8 1228 c.724C>T c.(724-726)Cga>Tga p.R242* CRYZ_ENST00000340866.5_Nonsense_Mutation_p.R242*|CRYZ_ENST00000370872.3_Nonsense_Mutation_p.R105*|CRYZ_ENST00000370871.3_Intron|CRYZ_ENST00000492102.1_5'UTR NM_001130042.1 NP_001123514.1 Q08257 QOR_HUMAN crystallin, zeta (quinone reductase) 242 protein homotetramerization|visual perception|xenobiotic catabolic process cytosol|Golgi apparatus mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5) 10 Dicumarol(DB00266) ACTATCACTCGTCCTCCATGT 0.274000 34 145 0 0 1 0 0 RASGRP1 10125 broad.mit.edu 37 15 38808519 38808519 + Missense_Mutation SNP T T C TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr15:38808519T>C ENST00000310803.5 - 6 731 c.554A>G c.(553-555)cAa>cGa p.Q185R RASGRP1_ENST00000561180.1_Missense_Mutation_p.Q236R|RASGRP1_ENST00000558164.1_Missense_Mutation_p.Q185R|RASGRP1_ENST00000450598.2_Missense_Mutation_p.Q185R|RASGRP1_ENST00000539159.1_Missense_Mutation_p.Q137R|RASGRP1_ENST00000559830.1_Missense_Mutation_p.Q185R NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 185 cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) TTTTATCCTTTGAGTAAGTTT 0.443000 19 111 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578503 7578503 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr17:7578503C>T ENST00000420246.2 - 5 559 c.427G>A c.(427-429)Gtg>Atg p.V143M TP53_ENST00000359597.4_Missense_Mutation_p.V143M|TP53_ENST00000413465.2_Missense_Mutation_p.V143M|TP53_ENST00000455263.2_Missense_Mutation_p.V143M|TP53_ENST00000269305.4_Missense_Mutation_p.V143M|TP53_ENST00000445888.2_Missense_Mutation_p.V143M NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 143 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (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.V143M(19)|p.0?(8)|p.V143L(4)|p.V143fs*27(2)|p.V11M(1)|p.L137_W146del10(1)|p.V143fs*29(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V50M(1)|p.V143_S149del(1)|p.C141fs*5(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) CACAGCTGCACAGGGCAGGTC 0.587000 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) 27 47 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56489977 56489977 + Nonsense_Mutation SNP G G T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr6:56489977G>T ENST00000370754.5 - 34 4708 c.4709C>A c.(4708-4710)tCa>tAa p.S1570* DST_ENST00000312431.6_Nonsense_Mutation_p.S1392*|DST_ENST00000370765.6_Nonsense_Mutation_p.S1066*|DST_ENST00000421834.2_Nonsense_Mutation_p.S1392*|DST_ENST00000370769.4_Nonsense_Mutation_p.S1392*|DST_ENST00000244364.6_Nonsense_Mutation_p.S1066*|DST_ENST00000370788.2_Nonsense_Mutation_p.S1392*|DST_ENST00000361203.3_Nonsense_Mutation_p.S1392*|DST_ENST00000446842.2_Nonsense_Mutation_p.S1066*|DST_ENST00000518935.1_Nonsense_Mutation_p.S1066* Q03001 DYST_HUMAN dystonin 1392 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GAGATCTGCTGAACTCTGCAT 0.363000 63 273 4.60343e-24 5.38437e-24 1 1 0 OR10T2 128360 broad.mit.edu 37 1 158368907 158368907 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr1:158368907G>A ENST00000334438.1 - 1 349 c.350C>T c.(349-351)gCt>gTt p.A117V NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) TCCCATCACAGCAATGAGGAG 0.493000 4 155 0 0 1 0 0 OR4F15 390649 broad.mit.edu 37 15 102358822 102358822 + Silent SNP T T C TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr15:102358822T>C ENST00000332238.4 + 1 457 c.433T>C c.(433-435)Tta>Cta p.L145L NM_001001674.1 NP_001001674.1 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, member 15 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10) 19 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TCTATACTTTTTAGCCACTTC 0.408000 36 241 0 0 1 0 0 RPL26L1 51121 broad.mit.edu 37 5 172386987 172386987 + Missense_Mutation SNP G G C TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr5:172386987G>C ENST00000521476.1 + 2 235 c.111G>C c.(109-111)gaG>gaC p.E37D RPL26L1_ENST00000519974.1_Missense_Mutation_p.E37D|RPL26L1_ENST00000265100.2_Missense_Mutation_p.E37D|RPL26L1_ENST00000519239.1_Missense_Mutation_p.E37D Q9UNX3 RL26L_HUMAN ribosomal protein L26-like 1 37 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1) 7 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCTCCAAGGAGCTGCGGCAGA 0.602000 37 180 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11132522 11132522 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr19:11132522C>T ENST00000358026.2 + 19 3022 c.2738C>T c.(2737-2739)cCg>cTg p.P913L SMARCA4_ENST00000444061.3_Missense_Mutation_p.P913L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P913L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P913L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.P913L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P913L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P913L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.P913L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.P913L NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 913 Helicase ATP-binding. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.P913Q(2)|p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) ACGGGCACACCGCTGCAGAAC 0.612000 """F, N, Mis""" NSCLC 8 44 0 0 1 0 0 C10orf111 221060 broad.mit.edu 37 10 15138710 15138710 + Silent SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr10:15138710C>T ENST00000378207.3 - 2 387 c.114G>A c.(112-114)aaG>aaA p.K38K NM_153244.1 NP_694976.1 Q8N326 CJ111_HUMAN chromosome 10 open reading frame 111 38 integral to membrane lung(5)|upper_aerodigestive_tract(1) 6 CTGCCTTTCTCTTTTCGGGCT 0.498000 36 268 0 0 1 0 0 GABRG2 2566 broad.mit.edu 37 5 161524781 161524781 + Silent SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr5:161524781C>T ENST00000356592.3 + 4 925 c.465C>T c.(463-465)tcC>tcT p.S155S GABRG2_ENST00000393933.4_Silent_p.S60S|GABRG2_ENST00000361925.4_Silent_p.S155S|GABRG2_ENST00000414552.2_Silent_p.S155S NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 155 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) TCAGAAATTCCAAAAAAGCTG 0.428000 38 165 0 0 1 0 0 MYCL 4610 broad.mit.edu 37 1 40366778 40366778 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr1:40366778C>T ENST00000397332.2 - 2 543 c.419G>A c.(418-420)aGc>aAc p.S140N MYCL_ENST00000372816.2_Missense_Mutation_p.S110N|MYCL_ENST00000372815.1_Missense_Mutation_p.S140N|MYCL_ENST00000429311.1_Missense_Mutation_p.S110N NM_001033081.2|NM_001033082.2 NP_001028253.1|NP_001028254.2 v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog GAGCCGGTCGCTCACAGCTCT 0.726000 3 16 0 0 1 0 0 FAM83H 286077 broad.mit.edu 37 8 144810795 144810795 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr8:144810795G>A ENST00000388913.3 - 5 961 c.836C>T c.(835-837)gCg>gTg p.A279V NM_198488.3 NP_940890.3 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 279 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CTCGGACTGCGCGAAGAGGAT 0.672000 4 44 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141116420 141116420 + Missense_Mutation SNP C C T rs150879175 byFrequency TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr2:141116420C>T ENST00000389484.3 - 73 12198 c.11227G>A c.(11227-11229)Ggt>Agt p.G3743S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3743 LDL-receptor class A 31. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.G3743S(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GAATTGTCACCGCATTCATCA 0.398000 TSP Lung(27;0.18) 43 212 0 0 1 0 0 ZCCHC24 219654 broad.mit.edu 37 10 81154151 81154151 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr10:81154151G>A ENST00000372336.3 - 3 679 c.493C>T c.(493-495)Cgc>Tgc p.R165C ZCCHC24_ENST00000372333.3_Missense_Mutation_p.A105V|RP11-342M3.5_ENST00000438554.2_RNA NM_153367.3 NP_699198.2 Q8N2G6 ZCH24_HUMAN zinc finger, CCHC domain containing 24 165 nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1) 9 CCGAAGCAGCGCTTTTTGCCC 0.567000 42 174 0 0 1 0 0 ENKD1 84080 broad.mit.edu 37 16 67700071 67700071 + Silent SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr16:67700071G>A ENST00000243878.4 - 2 504 c.183C>T c.(181-183)ccC>ccT p.P61P ENKD1_ENST00000602644.1_Silent_p.P61P NM_032140.1 NP_115516.1 enkurin domain containing 1 CTCCGGCACCGGGACCGATGC 0.682000 30 110 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54327166 54327166 + Missense_Mutation SNP C C G TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr19:54327166C>G ENST00000324134.6 - 1 431 c.263G>C c.(262-264)aGa>aCa p.R88T NLRP12_ENST00000351894.4_Missense_Mutation_p.R88T|NLRP12_ENST00000391772.1_Missense_Mutation_p.R88T|NLRP12_ENST00000535162.1_Missense_Mutation_p.R88T|NLRP12_ENST00000354278.3_Missense_Mutation_p.R88T|NLRP12_ENST00000345770.5_Missense_Mutation_p.R88T|NLRP12_ENST00000391773.1_Missense_Mutation_p.R88T|NLRP12_ENST00000391775.3_Missense_Mutation_p.R88T NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 88 DAPIN. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TCTCTGTCCTCTCTCCCACAG 0.587000 65 224 0 0 1 0 0 ABCC12 94160 broad.mit.edu 37 16 48149471 48149471 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr16:48149471C>T ENST00000311303.3 - 13 2189 c.1844G>A c.(1843-1845)cGc>cAc p.R615H ABCC12_ENST00000448542.1_Missense_Mutation_p.R615H|ABCC12_ENST00000416054.1_Missense_Mutation_p.A591T NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 615 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.R615H(1) NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) GTAGACAGCGCGGGCCAGGCT 0.632000 21 61 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 3 171 0 0 1 0 0 TULP1 7287 broad.mit.edu 37 6 35467758 35467758 + Splice_Site SNP G G A rs138772407 byFrequency TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr6:35467758G>A ENST00000229771.6 - 14 1574 c.1495_splice c.e14+1 p.P499_splice TULP1_ENST00000322263.4_Splice_Site_p.P446_splice NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 499 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 AGGTACTCACGGTCATCAGCG 0.587000 71 107 0 0 1 0 0 REXO4 57109 broad.mit.edu 37 9 136279920 136279920 + Missense_Mutation SNP C C A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr9:136279920C>A ENST00000371942.3 - 2 636 c.437G>T c.(436-438)cGc>cTc p.R146L REXO4_ENST00000478037.1_5'UTR|ADAMTS13_ENST00000485925.1_Intron|REXO4_ENST00000371935.2_Missense_Mutation_p.A87S NM_020385.2 NP_065118.2 Q9GZR2 REXO4_HUMAN REX4, RNA exonuclease 4 homolog (S. cerevisiae) 146 nucleolus exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05) GGCCTTGGTGCGAGGTACTGG 0.542000 4 181 1 1 1 1 0 MARCH7 64844 broad.mit.edu 37 2 160585576 160585576 + Nonsense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr2:160585576C>T ENST00000259050.3 + 2 165 c.43C>T c.(43-45)Caa>Taa p.Q15* MARCH7_ENST00000409175.1_Nonsense_Mutation_p.Q15*|MARCH7_ENST00000473749.1_3'UTR|MARCH7_ENST00000539065.1_Nonsense_Mutation_p.Q15* NM_022826.2 NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase 15 Ser-rich. ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 AATTTCTGTTCAACCTTCCAG 0.343000 34 70 0 0 1 0 0 RPTOR 57521 broad.mit.edu 37 17 78899184 78899184 + Silent SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr17:78899184G>A ENST00000306801.3 + 24 3185 c.2823G>A c.(2821-2823)gcG>gcA p.A941A RPTOR_ENST00000544334.2_Silent_p.A783A|RPTOR_ENST00000575542.1_3'UTR NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 941 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 CGGACGACGCGGACGATGCTG 0.572000 14 65 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57968982 57968982 + Missense_Mutation SNP T T C TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr12:57968982T>C ENST00000455537.2 + 16 2106 c.1832T>C c.(1831-1833)cTc>cCc p.L611P KIF5A_ENST00000286452.5_Missense_Mutation_p.L522P NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 611 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 CTGGAGAACCTCCAGGTGGAG 0.562000 10 40 0 0 1 0 0 RAB2B 84932 broad.mit.edu 37 14 21936559 21936559 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr14:21936559G>A ENST00000397762.1 - 5 419 c.319C>T c.(319-321)Cac>Tac p.H107Y RAB2B_ENST00000461909.1_5'UTR NM_001163380.1|NM_032846.3 NP_001156852.1|NP_116235.2 Q8WUD1 RAB2B_HUMAN RAB2B, member RAS oncogene family 107 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane|plasma membrane GTP binding NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 6 all_cancers(95;0.000858) Epithelial(56;1.53e-06)|all cancers(55;1.44e-05) GBM - Glioblastoma multiforme(265;0.00391) GAACTAGAGTGCTGCCGGGCA 0.423000 10 49 0 0 1 0 0 ITGB3 3690 broad.mit.edu 37 17 45367599 45367599 + Missense_Mutation SNP G G T rs150029332 byFrequency TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr17:45367599G>T ENST00000559488.1 + 8 1100 c.1084G>T c.(1084-1086)Gat>Tat p.D362Y ITGB3_ENST00000560629.1_Missense_Mutation_p.G350V|ITGB3_ENST00000571680.1_Missense_Mutation_p.D362Y|ITGB3_ENST00000435993.2_Missense_Mutation_p.D315Y NM_000212.2 NP_000203.2 P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 362 VWFA. activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) TCTGTCCATGGATTCCAGCAA 0.493000 49 205 1.11015e-26 1.31018e-26 1 1 0 PXDN 7837 broad.mit.edu 37 2 1667514 1667514 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr2:1667514C>T ENST00000252804.4 - 12 1480 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 477 Ig-like C2-type 3. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CAGGTGCCGCCGGTCCACGGA 0.602000 5 139 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119084258 119084258 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr3:119084258C>T ENST00000264245.4 + 2 728 c.196C>T c.(196-198)Cgg>Tgg p.R66W NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 66 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 AAACATACAACGGCTAAGGTA 0.438000 17 100 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190423836 190423836 + Missense_Mutation SNP T T G TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr1:190423836T>G ENST00000367462.3 - 2 416 c.185A>C c.(184-186)gAt>gCt p.D62A FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.I24L NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 62 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GTCCACAAAATCTGTGTATTC 0.468000 18 64 0 0 1 0 0 ANKRD12 23253 broad.mit.edu 37 18 9204522 9204522 + Missense_Mutation SNP C C G TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr18:9204522C>G ENST00000262126.3 + 4 524 c.284C>G c.(283-285)tCt>tGt p.S95C ANKRD12_ENST00000383440.2_Intron|ANKRD12_ENST00000400020.3_Intron|ANKRD12_ENST00000540578.2_3'UTR NM_015208.4 NP_056023.3 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 95 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 AGACTTATATCTTCTTACAGG 0.373000 41 126 0 0 1 0 0 STAT3 6774 broad.mit.edu 37 17 40474419 40474419 + Missense_Mutation SNP T T A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr17:40474419T>A ENST00000264657.5 - 21 2294 c.1982A>T c.(1981-1983)gAt>gTt p.D661V STAT3_ENST00000585517.1_Missense_Mutation_p.D661V|STAT3_ENST00000389272.3_Missense_Mutation_p.D563V|STAT3_ENST00000404395.3_Missense_Mutation_p.D661V|STAT3_ENST00000588969.1_Missense_Mutation_p.D661V NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 661 SH2. cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) ATTGGTAGCATCCATGATCTT 0.483000 Hyperimmunoglobulin E Recurrent Infection Syndrome 59 230 0 0 1 0 0 CDC123 8872 broad.mit.edu 37 10 12259436 12259436 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr10:12259436C>T ENST00000281141.4 + 6 690 c.410C>T c.(409-411)tCc>tTc p.S137F CDC123_ENST00000455773.3_3'UTR|CDC123_ENST00000378900.2_Missense_Mutation_p.S137F NM_006023.2 NP_006014.2 O75794 CD123_HUMAN cell division cycle 123 137 cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle cytoplasm central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 TTCAAGAGTTCCGATTTCATC 0.368000 14 141 0 0 1 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48913362 48913362 + Missense_Mutation SNP C C G TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr17:48913362C>G ENST00000311378.4 + 1 592 c.64C>G c.(64-66)Ctg>Gtg p.L22V WFIKKN2_ENST00000426127.1_Intron NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 22 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) gctgctgctgctgctgctact 0.677000 2 13 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32620826 32620826 + Silent SNP T T A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr8:32620826T>A ENST00000521670.1 + 12 1467 c.1359T>A c.(1357-1359)tcT>tcA p.S453S NRG1_ENST00000287845.5_Intron|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000287840.5_Intron Q02297 NRG1_HUMAN neuregulin 1 0 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) TTAGATCTTCTTCCATTCCCC 0.418000 40 220 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104955091 104955091 + Missense_Mutation SNP C C A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr8:104955091C>A ENST00000507740.1 + 11 2250 c.2014C>A c.(2014-2016)Cac>Aac p.H672N RIMS2_ENST00000406091.3_Missense_Mutation_p.H880N|RIMS2_ENST00000262231.10_Missense_Mutation_p.H719N|RIMS2_ENST00000436393.2_Missense_Mutation_p.H658N NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 942 PDZ. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GCCACTTCCCCACCCTTCTCC 0.388000 HNSCC(12;0.0054) 22 130 5.45024e-15 6.05069e-15 1 1 0 RNF44 22838 broad.mit.edu 37 5 175958006 175958006 + Missense_Mutation SNP G G C TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr5:175958006G>C ENST00000274811.4 - 5 1006 c.482C>G c.(481-483)aCc>aGc p.T161S RNF44_ENST00000537487.1_Missense_Mutation_p.T80S NM_014901.4 NP_055716.1 Q7L0R7 RNF44_HUMAN ring finger protein 44 161 Pro-rich. zinc ion binding endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1) 8 all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGCTGCATGGTGCACGCCTG 0.667000 7 20 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152187690 152187690 + Nonsense_Mutation SNP T T A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr1:152187690T>A ENST00000368801.2 - 3 6490 c.6415A>T c.(6415-6417)Aga>Tga p.R2139* FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2139 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCCTGATCTAGAGCCGTGT 0.572000 36 1435 0 0 1 0 0 SSFA2 6744 broad.mit.edu 37 2 182767033 182767033 + Missense_Mutation SNP A A G TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr2:182767033A>G ENST00000431877.2 + 8 1432 c.1253A>G c.(1252-1254)gAt>gGt p.D418G SSFA2_ENST00000428267.2_Missense_Mutation_p.D265G|SSFA2_ENST00000409001.1_Missense_Mutation_p.D418G|SSFA2_ENST00000320370.7_Missense_Mutation_p.D418G NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 418 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TCCAAATTAGATAGTGATTTC 0.383000 15 84 0 0 1 0 0 CPN2 1370 broad.mit.edu 37 3 194062951 194062951 + Missense_Mutation SNP G G C TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr3:194062951G>C ENST00000323830.3 - 2 570 c.481C>G c.(481-483)Ccc>Gcc p.P161A CPN2_ENST00000429275.1_Missense_Mutation_p.P161A NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 161 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) AGCCTCCTGGGCAGGGCCTGG 0.637000 11 93 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29990752 29990752 + Missense_Mutation SNP T T G TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr16:29990752T>G ENST00000308893.4 + 8 1621 c.578T>G c.(577-579)gTg>gGg p.V193G TAOK2_ENST00000279394.3_Missense_Mutation_p.V193G|TAOK2_ENST00000543033.1_Missense_Mutation_p.V193G NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 193 Protein kinase. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 GCACCCGAGGTGATCCTGGCC 0.582000 5 37 0 0 1 0 0 CASP8 841 broad.mit.edu 37 2 202149679 202149688 + Frame_Shift_Del DEL CTCTCCCATG CTCTCCCATG - TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr2:202149679_202149688delCTCTCCCATG ENST00000358485.4 + 8 1316_1325 c.1120_1129delCTCTCCCATG c.(1120-1131)gafs p.LSHG374fs CASP8_ENST00000264275.5_Frame_Shift_Del_p.LSHG332fs|CASP8_ENST00000432109.2_Frame_Shift_Del_p.LSHG315fs|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Frame_Shift_Del_p.LSHG300fs|CASP8_ENST00000264274.9_Frame_Shift_Del_p.LSHG231fs NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 315 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 CTGCTGTATCCTCTCCCATGGAGACAAGGG 0.486 HNSCC(4;0.00038) 50 193 --- --- --- --- NPPC 4880 broad.mit.edu 37 2 232790411 232790412 + Frame_Shift_Ins INS - - G TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr2:232790411_232790412insG ENST00000409852.1 - 2 257_258 c.104_105insC c.(103-105)cccfs p.P35fs NPPC_ENST00000295440.2_Frame_Shift_Ins_p.P35fs NM_024409.2 NP_077720.1 P23582 ANFC_HUMAN natriuretic peptide C 35 cGMP biosynthetic process|growth plate cartilage chondrocyte differentiation|growth plate cartilage chondrocyte proliferation|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vasoconstriction hormone activity all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025) Epithelial(121;9.35e-14)|BRCA - Breast invasive adenocarcinoma(100;0.00119)|LUSC - Lung squamous cell carcinoma(224;0.00746)|Lung(119;0.00834) CCTCTGCCGGCGGGGTTCGCGG 0.743 7 8 --- --- --- --- FLT4 2324 broad.mit.edu 37 5 180040031 180040032 + Frame_Shift_Ins INS - - G TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr5:180040031_180040032insG ENST00000261937.6 - 25 3488_3489 c.3410_3411insC c.(3409-3411)cgafs p.R1137fs FLT4_ENST00000393347.3_Frame_Shift_Ins_p.R1137fs|FLT4_ENST00000502649.1_Frame_Shift_Ins_p.R1137fs NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 1137 Protein kinase. P -> S (in juvenile hemangioma). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TGGCCAGCTCCGGGGCCCTCAT 0.653 31 188 --- --- --- --- GS1-124K5.2 0 broad.mit.edu 37 7 65914885 65914886 + RNA DEL AG AG - TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr7:65914885_65914886delAG ENST00000442578.1 - 0 521 TTTCAACTAAAGAGAGTATTGG 0.337 4 3 --- --- --- --- JHDM1D-AS1 100134229 broad.mit.edu 37 7 139878082 139878089 + RNA DEL TCCCTCCC TCCCTCCC - rs57191915 TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr7:139878082_139878089delTCCCTCCC ENST00000566699.1 + 0 1022_1029 NR_024451.1 cttccttccttccctccctccCTTTCCT 0.471 3 4 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113662425 113662425 + Frame_Shift_Del DEL T T - TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr8:113662425delT ENST00000297405.5 - 19 3402 c.3158delA c.(3157-3159)acfs p.N1053fs CSMD3_ENST00000343508.3_Frame_Shift_Del_p.N1013fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.N949fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.N1053fs NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1053 Sushi 5. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CCACCAGTGGTTTTTTTCGCA 0.378 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 7 318 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651191 1651199 + In_Frame_Del DEL GGCTGTGGA GGCTGTGGA - rs71025763 TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr11:1651191_1651199delGGCTGTGGA ENST00000399676.2 + 1 159_167 c.121_129delGGCTGTGGA c.(121-129)del p.GCG47del NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 47 keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ctgtggctccggctgtggaggctgtgggg 0.713 10 65 --- --- --- --- TRAV14DV4 28669 broad.mit.edu 37 14 22392285 22392285 + RNA DEL T T - TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr14:22392285delT ENST00000390440.2 + 0 47 AAGAAGAAGATTTTTTTTTAT 0.473 11 45 --- --- --- --- CTCF 10664 broad.mit.edu 37 16 67645241 67645242 + Frame_Shift_Ins INS - - G TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr16:67645241_67645242insG ENST00000264010.4 + 3 950_951 c.506_507insG c.(505-507)gggfs p.G169fs CTCF_ENST00000401394.1_Intron NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 169 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) GTGGTTAAAGTGGGGGCCAATG 0.505 19 122 --- --- --- --- CRYBB2P1 1416 broad.mit.edu 37 22 25855683 25855684 + RNA DEL GT GT - rs61433517 TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr22:25855683_25855684delGT ENST00000354451.2 + 0 366 CTGGCAGCTGgtgtgtgtgtgt 0.525 2 4 --- --- --- --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 3 6 --- --- --- ---