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 SFRP2 6423 broad.mit.edu 37 4 154709579 154709579 + Missense_Mutation SNP G G A TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr4:154709579G>A ENST00000274063.4 - 1 693 c.409C>T c.(409-411)Ccc>Tcc p.P137S NM_003013.2 NP_003004.1 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 137 FZ. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 16 all_hematologic(180;0.093) Renal(120;0.117) AGCATGTCGGGCCAGGGGAAG 0.647000 13 19 0 0 1 0 0 FKBP14 55033 broad.mit.edu 37 7 30054372 30054372 + Silent SNP T T C TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr7:30054372T>C ENST00000222803.5 - 4 790 c.615A>G c.(613-615)acA>acG p.T205T AC007285.6_ENST00000419103.1_RNA|AC007285.6_ENST00000422239.1_RNA NM_017946.3 NP_060416.1 Q9NWM8 FKB14_HUMAN FK506 binding protein 14, 22 kDa 205 EF-hand 2. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity breast(1)|large_intestine(2)|lung(2) 5 CGTGTTTATATGTAAATTCTC 0.338000 11 19 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151166465 151166465 + Missense_Mutation SNP G G T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr3:151166465G>T ENST00000282466.3 - 4 1303 c.1304C>A c.(1303-1305)tCc>tAc p.S435Y NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 435 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CAGCTGCAAGGAAATTTGGTC 0.438000 9 38 0.0477658 0.0477658 1 1 0 EP400 57634 broad.mit.edu 37 12 132530428 132530428 + Missense_Mutation SNP C C A TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr12:132530428C>A ENST00000333577.4 + 40 7400 c.7291C>A c.(7291-7293)Cca>Aca p.P2431T EP400_ENST00000330386.6_Missense_Mutation_p.P2314T|EP400_ENST00000332482.4_Missense_Mutation_p.P2358T|EP400_ENST00000389561.2_Missense_Mutation_p.P2395T|EP400_ENST00000389562.2_Missense_Mutation_p.P2394T Q96L91 EP400_HUMAN E1A binding protein p400 2431 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TGTCATCATTCCACGAGAGGA 0.542000 4 15 2.56e-06 2.89574e-06 1 1 0 DUOX1 53905 broad.mit.edu 37 15 45457064 45457064 + Missense_Mutation SNP C C T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr15:45457064C>T ENST00000321429.4 + 35 5028 c.4621C>T c.(4621-4623)Cgg>Tgg p.R1541W DUOX1_ENST00000561166.1_Missense_Mutation_p.R1187W|DUOX1_ENST00000389037.3_Missense_Mutation_p.R1541W|CTD-2651B20.1_ENST00000558039.1_lincRNA NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 1541 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) CAGGCAGGACCGGACTCACTT 0.587000 36 60 0 0 1 0 0 SLC9A7P1 0 broad.mit.edu 37 12 98848707 98848707 + RNA SNP C C T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr12:98848707C>T ENST00000554295.1 - 0 2216 NR_033801.1 TCGAAACCTTCTGGTTTCCCA 0.562000 3 5 0 0 1 0 0 RUNX3 864 broad.mit.edu 37 1 25254068 25254068 + Silent SNP G G T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr1:25254068G>T ENST00000399916.1 - 3 916 c.478C>A c.(478-480)Cga>Aga p.R160R RUNX3_ENST00000308873.6_Silent_p.R146R|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000540420.1_Silent_p.R53R|RUNX3_ENST00000338888.3_Silent_p.R160R NM_001031680.2 NP_001026850.1 Q13761 RUNX3_HUMAN runt-related transcription factor 3 146 Runt. cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136) CACTTACCTCGCCCACTGCGG 0.587000 24 41 1.66031e-10 1.94171e-10 1 1 0 CPN1 1369 broad.mit.edu 37 10 101835691 101835691 + Missense_Mutation SNP C C T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr10:101835691C>T ENST00000370418.3 - 2 648 c.397G>A c.(397-399)Ggc>Agc p.G133S NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 133 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) ACCTCGTAGCCGTCGGGGTTC 0.577000 6 21 0 0 1 0 0 LDLR 3949 broad.mit.edu 37 19 11240197 11240197 + Missense_Mutation SNP G G A TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr19:11240197G>A ENST00000558518.1 + 17 2585 c.2398G>A c.(2398-2400)Gtc>Atc p.V800I LDLR_ENST00000545707.1_Missense_Mutation_p.V622I|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000558013.1_Missense_Mutation_p.V800I|LDLR_ENST00000557933.1_Silent_p.S820S|LDLR_ENST00000535915.1_Missense_Mutation_p.V759I|LDLR_ENST00000455727.2_Missense_Mutation_p.V632I NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 800 Missing (in FH; Danish patient). cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) AGTGCTCCTCGTCTTCCTTTG 0.547000 4 51 0 0 1 0 0 SARDH 1757 broad.mit.edu 37 9 136594988 136594988 + Splice_Site SNP C C T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr9:136594988C>T ENST00000371872.4 - 6 1072 c.e6-1 SARDH_ENST00000298628.5_Splice_Site|SARDH_ENST00000371867.1_Splice_Site|SARDH_ENST00000422262.2_Splice_Site|SARDH_ENST00000439388.1_Splice_Site NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GCCCACACTCCTGCGGGCAGA 0.637000 4 20 0 0 1 0 0 CANT1 124583 broad.mit.edu 37 17 76993313 76993313 + Missense_Mutation SNP T T C TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr17:76993313T>C ENST00000302345.2 - 2 886 c.392A>G c.(391-393)aAg>aGg p.K131R CANT1_ENST00000591773.1_Missense_Mutation_p.K131R|CANT1_ENST00000392446.5_Missense_Mutation_p.K131R NM_001159773.1|NM_138793.3 NP_001153245.1|NP_620148.1 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 131 positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity CANT1/ETV4(3) cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) CAGGTAGCCCTTTTTCAGGTA 0.577000 T ETV4 prostate 5 258 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1086413 1086413 + Missense_Mutation SNP C C T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr11:1086413C>T ENST00000441003.2 + 23 3149 c.3122C>T c.(3121-3123)cCg>cTg p.P1041L MUC2_ENST00000359061.5_Missense_Mutation_p.P1041L NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1041 VWFD 3. inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) AGCCTGAACCCGCACCGCCGC 0.657000 4 7 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212295693 212295693 + Missense_Mutation SNP C C T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr2:212295693C>T ENST00000342788.4 - 21 2930 c.2620G>A c.(2620-2622)Gag>Aag p.E874K ERBB4_ENST00000436443.1_Missense_Mutation_p.E874K|ERBB4_ENST00000402597.1_Missense_Mutation_p.E864K NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 874 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GCATTGTACTCTTTTTCATCT 0.373000 TSP Lung(8;0.080) 35 59 0 0 1 0 0 TADA2B 93624 broad.mit.edu 37 4 7056396 7056396 + Missense_Mutation SNP G G A TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr4:7056396G>A ENST00000310074.7 + 2 1067 c.878G>A c.(877-879)cGg>cAg p.R293Q TADA2B_ENST00000512388.1_Missense_Mutation_p.R218Q|TADA2B_ENST00000515646.1_Missense_Mutation_p.R201Q NM_152293.2 NP_689506.2 Q86TJ2 TAD2B_HUMAN transcriptional adaptor 2B 293 regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|zinc ion binding breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 18 GAACTGCAGCGGTACCGGCGA 0.522000 6 14 0 0 1 0 0 PCDHA4 0 broad.mit.edu 37 5 140188233 140188233 + Silent SNP C C T rs139246893 TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr5:140188233C>T ENST00000530339.1 + 1 1461 c.1461C>T c.(1459-1461)aaC>aaT p.N487N PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.N487N|PCDHA4_ENST00000356878.4_Silent_p.N487N|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron NM_018907.2 NP_061730.1 p.N487N(2) breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCAGGAGAACGCGCTGGTGT 0.657000 8 55 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51165488 51165488 + Missense_Mutation SNP G G A TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr19:51165488G>A ENST00000293441.1 - 23 6238 c.6220C>T c.(6220-6222)Cgc>Tgc p.R2074C SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.R2082C|SHANK1_ENST00000391813.1_Missense_Mutation_p.R1461C|SHANK1_ENST00000359082.3_Missense_Mutation_p.R2065C NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 2074 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) GAGAGGGAGCGCGAGGCCCCT 0.682000 7 16 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156811518 156811518 + Missense_Mutation SNP C C T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr1:156811518C>T ENST00000368195.3 - 20 3862 c.3466G>A c.(3466-3468)Gtg>Atg p.V1156M NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 1156 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) ATCCAGCGCACGGGCAGCAGC 0.617000 16 32 0 0 1 0 0 TOR2A 27433 broad.mit.edu 37 9 130494342 130494342 + Missense_Mutation SNP C C T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr9:130494342C>T ENST00000373284.5 - 5 983 c.937G>A c.(937-939)Gtg>Atg p.V313M TOR2A_ENST00000373281.5_3'UTR|TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000458505.3_3'UTR|TOR2A_ENST00000336067.6_3'UTR NM_001085347.2 NP_001078816.1 Q5JU69 TOR2A_HUMAN torsin family 2, member A 313 chaperone mediated protein folding requiring cofactor endoplasmic reticulum|extracellular region ATP binding|nucleoside-triphosphatase activity NS(1)|endometrium(2) 3 CGGGAGGCCACGGTCTTGCAG 0.627000 43 40 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136567459 136567459 + Missense_Mutation SNP C C T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr2:136567459C>T ENST00000264162.2 - 8 2468 c.2458G>A c.(2458-2460)Gtc>Atc p.V820I NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 820 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CTGAAGTTGACGTGGTGCAGG 0.507000 5 72 0 0 1 0 0 ALX1 8092 broad.mit.edu 37 12 85674179 85674179 + Missense_Mutation SNP G G A TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr12:85674179G>A ENST00000316824.3 + 1 295 c.140G>A c.(139-141)gGc>gAc p.G47D NM_006982.2 NP_008913.2 Q15699 ALX1_HUMAN ALX homeobox 1 47 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1) 26 GBM - Glioblastoma multiforme(134;0.134) GCGTCTGCAGGCAAATGCGTG 0.597000 3 46 0 0 1 0 0 NTF3 4908 broad.mit.edu 37 12 5603787 5603787 + Missense_Mutation SNP G G A TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr12:5603787G>A ENST00000423158.3 + 2 658 c.446G>A c.(445-447)cGg>cAg p.R149Q NTF3_ENST00000331010.6_Missense_Mutation_p.R136Q|NTF3_ENST00000535299.1_Intron NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 136 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 ACATCACGGCGGAAACGGTAC 0.607000 12 43 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55971085 55971085 + Missense_Mutation SNP C C T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr4:55971085C>T ENST00000263923.4 - 13 2007 c.1712G>A c.(1711-1713)tGc>tAc p.C571Y NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 571 Ig-like C2-type 6. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GTCTGCAGTGCACCACAAAGA 0.502000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 13 38 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 5 50 0 0 1 0 0 PCDHA4 0 broad.mit.edu 37 5 140188443 140188443 + Silent SNP C C T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr5:140188443C>T ENST00000530339.1 + 1 1671 c.1671C>T c.(1669-1671)gaC>gaT p.D557D PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.D557D|PCDHA4_ENST00000356878.4_Silent_p.D557D|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGTGCTGGACGAAAACGACA 0.667000 27 35 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129559588 129559588 + Missense_Mutation SNP C C A TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr12:129559588C>A ENST00000422113.2 - 9 2458 c.2132G>T c.(2131-2133)tGc>tTc p.C711F TMEM132D_ENST00000389441.4_Missense_Mutation_p.C249F NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 711 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CTGGACCCAGCAACTGATGGC 0.463000 9 25 9.70103e-10 1.11562e-09 1 1 0 SARDH 1757 broad.mit.edu 37 9 136596528 136596528 + Missense_Mutation SNP C C G TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr9:136596528C>G ENST00000371872.4 - 4 846 c.589G>C c.(589-591)Gac>Cac p.D197H SARDH_ENST00000298628.5_Missense_Mutation_p.D197H|SARDH_ENST00000371867.1_Missense_Mutation_p.D108H|SARDH_ENST00000422262.2_Missense_Mutation_p.D29H|SARDH_ENST00000439388.1_Missense_Mutation_p.D197H NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 197 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) TAGAGGTCGTCCACATTCATC 0.632000 5 31 0 0 1 0 0 KLK3 354 broad.mit.edu 37 19 51361552 51361552 + Silent SNP C C G TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr19:51361552C>G ENST00000360617.3 + 3 474 c.474C>G c.(472-474)ggC>ggG p.G158G KLK3_ENST00000593997.1_Silent_p.G158G|KLK3_ENST00000595952.1_Silent_p.G115G|KLK3_ENST00000597483.1_Silent_p.G115G|KLK3_ENST00000326003.2_Silent_p.G158G P07288 KLK3_HUMAN kallikrein-related peptidase 3 158 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) CAGGCTGGGGCAGCATTGAAC 0.652000 12 18 0 0 1 0 0 CTRL 1506 broad.mit.edu 37 16 67963908 67963908 + Missense_Mutation SNP G G A TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr16:67963908G>A ENST00000574481.1 - 7 1285 c.724C>T c.(724-726)Cgc>Tgc p.R242C NM_001907.2 NP_001898.1 P40313 CTRL_HUMAN chymotrypsin-like 242 Peptidase S1. digestion|proteolysis extracellular space serine-type endopeptidase activity kidney(1)|large_intestine(2)|urinary_tract(1) 4 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) GCAGGTGCGCGCACATTGCAG 0.552000 23 60 0 0 1 0 0 CTBS 1486 broad.mit.edu 37 1 85029048 85029048 + Silent SNP G G A TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr1:85029048G>A ENST00000370630.4 - 6 897 c.849C>T c.(847-849)gaC>gaT p.D283D CTBS_ENST00000477677.1_5'UTR NM_004388.2 NP_004379.1 Q01459 DIAC_HUMAN chitobiase, di-N-acetyl- 283 lysosome cation binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 9 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) GTCCTGCAGCGTCACTACAAG 0.403000 27 30 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13769401 13769401 + Missense_Mutation SNP C C T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr12:13769401C>T ENST00000279593.3 - 5 1525 c.1316G>A c.(1315-1317)cGc>cAc p.R439H NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 439 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.R439H(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AGTGACTATGCGTTTTTGGCA 0.532000 14 33 0 0 1 0 0 SARDH 1757 broad.mit.edu 37 9 136594963 136594963 + Missense_Mutation SNP C C T rs140509709 byFrequency TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr9:136594963C>T ENST00000371872.4 - 6 1096 c.839G>A c.(838-840)cGg>cAg p.R280Q SARDH_ENST00000298628.5_Missense_Mutation_p.R280Q|SARDH_ENST00000371867.1_Missense_Mutation_p.R191Q|SARDH_ENST00000422262.2_Missense_Mutation_p.R112Q|SARDH_ENST00000439388.1_Missense_Mutation_p.R280Q NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 280 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) TCCAGCCATCCGGCCCACAGC 0.642000 4 29 0 0 1 0 0 ACO2 50 broad.mit.edu 37 22 41911452 41911452 + Silent SNP C C T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr22:41911452C>T ENST00000396512.3 + 5 614 c.597C>T c.(595-597)ggC>ggT p.G199G ACO2_ENST00000216254.4_Silent_p.G199G Q99798 ACON_HUMAN aconitase 2, mitochondrial 199 G -> D (in Ref. 4; CAG38805). citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 23 CCAATGGTGGCGGCCTTGGGG 0.527000 29 58 0 0 1 0 0 KCNV2 169522 broad.mit.edu 37 9 2718996 2718996 + Silent SNP C C T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr9:2718996C>T ENST00000382082.3 + 1 1495 c.1257C>T c.(1255-1257)gcC>gcT p.A419A NM_133497.3 NP_598004.1 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 419 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) TCTTCATCGCCATGGGCATCT 0.637000 10 21 0 0 1 0 0 UCMA 221044 broad.mit.edu 37 10 13275576 13275576 + Missense_Mutation SNP C C T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr10:13275576C>T ENST00000378681.3 - 3 254 c.182G>A c.(181-183)cGc>cAc p.R61H UCMA_ENST00000463405.2_Missense_Mutation_p.R39H NM_145314.1 NP_660357.2 Q8WVF2 UCMA_HUMAN upper zone of growth plate and cartilage matrix associated 61 proteinaceous extracellular matrix breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 9 CCGCTTGCCGCGCCTCTTGAG 0.582000 42 63 0 0 1 0 0 PPP1R9B 84687 broad.mit.edu 37 17 48216860 48216860 + Silent SNP C C T rs146365088 by1000genomes TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr17:48216860C>T ENST00000316878.6 - 8 1949 c.1947G>A c.(1945-1947)gcG>gcA p.A649A PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA NM_032595.3 NP_115984.3 Q96SB3 NEB2_HUMAN protein phosphatase 1, regulatory subunit 9B 649 Interacts with TGN38 (By similarity). cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 CCTCGTTCTCCGCTAGCTCAA 0.617000 33 69 0 0 1 0 0 SARDH 1757 broad.mit.edu 37 9 136595289 136595289 + Silent SNP C C T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr9:136595289C>T ENST00000371872.4 - 5 968 c.711G>A c.(709-711)gtG>gtA p.V237V SARDH_ENST00000298628.5_Silent_p.V237V|SARDH_ENST00000371867.1_Silent_p.V148V|SARDH_ENST00000422262.2_Silent_p.V69V|SARDH_ENST00000439388.1_Silent_p.V237V NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 237 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GAATGCCGGTCACTGGGCAGT 0.597000 3 37 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578525 7578525 + Missense_Mutation SNP G G C TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr17:7578525G>C ENST00000420246.2 - 5 537 c.405C>G c.(403-405)tgC>tgG p.C135W TP53_ENST00000413465.2_Missense_Mutation_p.C135W|TP53_ENST00000359597.4_Missense_Mutation_p.C135W|TP53_ENST00000455263.2_Missense_Mutation_p.C135W|TP53_ENST00000445888.2_Missense_Mutation_p.C135W|TP53_ENST00000269305.4_Missense_Mutation_p.C135W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 135 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP). 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.C135W(24)|p.0?(8)|p.C135*(7)|p.C135C(5)|p.C135fs*9(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C3W(1)|p.C42W(1)|p.C135_T140delCQLAKT(1)|p.Q136*(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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) TGGCCAGTTGGCAAAACATCT 0.567000 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) 7 9 0 0 1 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45475738 45475738 + Missense_Mutation SNP G G C TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr21:45475738G>C ENST00000291574.4 + 5 817 c.642G>C c.(640-642)gaG>gaC p.E214D TRAPPC10_ENST00000380221.3_Missense_Mutation_p.E214D NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 214 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 AGAGGACTGAGCCAGGCTGGA 0.453000 33 56 0 0 1 0 0 TLR1 7096 broad.mit.edu 37 4 38798378 38798378 + Missense_Mutation SNP T T G TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr4:38798378T>G ENST00000308979.2 - 4 2348 c.2075A>C c.(2074-2076)aAg>aCg p.K692T TLR1_ENST00000502213.2_Missense_Mutation_p.K692T NM_003263.3 NP_003254.2 Q15399 TLR1_HUMAN toll-like receptor 1 692 TIR. cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2) 28 AAAGATGGACTTGTAACTCTT 0.403000 14 136 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121882032 121882032 + Missense_Mutation SNP C C T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr12:121882032C>T ENST00000377069.4 - 16 2547 c.2141G>A c.(2140-2142)gGc>gAc p.G714D KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.G745D|KDM2B_ENST00000542973.1_Missense_Mutation_p.G113D NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 745 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 GAGCAGGGAGCCGGGCAGGTT 0.577000 OREG0022201 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 39 0 0 1 0 0 ARNTL2 56938 broad.mit.edu 37 12 27542200 27542200 + Nonsense_Mutation SNP C C A TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr12:27542200C>A ENST00000544915.1 + 7 863 c.644C>A c.(643-645)tCa>tAa p.S215* ARNTL2_ENST00000546179.1_Nonsense_Mutation_p.S212*|ARNTL2_ENST00000542388.1_Nonsense_Mutation_p.S164*|ARNTL2_ENST00000395901.2_Nonsense_Mutation_p.S212*|ARNTL2_ENST00000261178.5_Nonsense_Mutation_p.S201*|ARNTL2_ENST00000266503.5_Nonsense_Mutation_p.S249*|ARNTL2_ENST00000311001.5_Nonsense_Mutation_p.S235* NM_020183.4 NP_064568.3 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear translocator-like 2 249 PAS 1. circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) TTTGATATTTCACCAAGAGAA 0.333000 10 27 0.000442599 0.000462718 1 1 0 NAA25 80018 broad.mit.edu 37 12 112518881 112518881 + Missense_Mutation SNP T T A TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr12:112518881T>A ENST00000261745.4 - 5 708 c.460A>T c.(460-462)Atg>Ttg p.M154L NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 154 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 ATTAAGCTCATCACAGACCAA 0.348000 49 147 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55141137 55141137 + Missense_Mutation SNP C C T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr4:55141137C>T ENST00000257290.5 + 12 2114 c.1783C>T c.(1783-1785)Ctt>Ttt p.L595F FIP1L1_ENST00000507166.1_Missense_Mutation_p.L355F NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 595 Protein kinase. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TGGACTAGTGCTTGGTAAGTT 0.448000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 15 44 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23111124 23111124 + Silent SNP G G T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr1:23111124G>T ENST00000400191.3 + 3 384 c.366G>T c.(364-366)tcG>tcT p.S122S EPHB2_ENST00000544305.1_Silent_p.S122S|EPHB2_ENST00000374632.3_Silent_p.S122S|EPHB2_ENST00000374627.1_Silent_p.S116S|EPHB2_ENST00000374630.3_Silent_p.S122S NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 122 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) ACTTTGACTCGGCCACCAAGA 0.572000 10 16 2.17888e-05 2.3491e-05 1 1 0 KRTAP10-9 386676 broad.mit.edu 37 21 46047205 46047205 + Silent SNP G G A TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr21:46047205G>A ENST00000397911.3 + 1 166 c.117G>A c.(115-117)ccG>ccA p.P39P KRTAP10-9_ENST00000484861.1_3'UTR|TSPEAR_ENST00000323084.4_Intron NM_198690.2 NP_941963.2 P60411 KR109_HUMAN keratin associated protein 10-9 39 25 X 5 AA repeats of C-C-X(3). keratin filament endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 GCTGCGCCCCGGCCCCCTGCC 0.687000 13 45 0 0 1 0 0 SARDH 1757 broad.mit.edu 37 9 136597691 136597691 + Nonsense_Mutation SNP C C A TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr9:136597691C>A ENST00000371872.4 - 3 621 c.364G>T c.(364-366)Gag>Tag p.E122* SARDH_ENST00000298628.5_Nonsense_Mutation_p.E122*|SARDH_ENST00000371867.1_Nonsense_Mutation_p.E33*|SARDH_ENST00000422262.2_5'UTR|SARDH_ENST00000439388.1_Nonsense_Mutation_p.E122* NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 122 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) AGCTCCACCTCCACGTCACTG 0.662000 6 66 0.000673444 0.000693547 1 1 0 TTN 7273 broad.mit.edu 37 2 179640923 179640923 + Missense_Mutation SNP G G A rs146496197 byFrequency TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr2:179640923G>A ENST00000589042.1 - 28 5892 c.5668C>T c.(5668-5670)Cgc>Tgc p.R1890C TTN_ENST00000360870.5_Missense_Mutation_p.R1890C|TTN_ENST00000359218.5_Missense_Mutation_p.R1844C|TTN_ENST00000342992.6_Missense_Mutation_p.R1890C|TTN_ENST00000460472.2_Missense_Mutation_p.R1844C|TTN_ENST00000591111.1_Missense_Mutation_p.R1890C|TTN_ENST00000342175.6_Missense_Mutation_p.R1844C NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1605 Ig-like 9. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R1844C(3)|p.R1890C(2) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCATCATAGCGAACTCTGAAC 0.498000 61 134 0 0 1 0 0 RFTN1 23180 broad.mit.edu 37 3 16358450 16358450 + Missense_Mutation SNP G G A TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr3:16358450G>A ENST00000334133.4 - 10 1894 c.1622C>T c.(1621-1623)gCc>gTc p.A541V RFTN1_ENST00000432519.1_Missense_Mutation_p.A505V|OXNAD1_ENST00000606098.1_Intron|OXNAD1_ENST00000605932.1_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000435829.2_Intron NM_015150.1 NP_055965.1 Q14699 RFTN1_HUMAN raftlin, lipid raft linker 1 541 plasma membrane central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 38 GCTGTGGCTGGCAGGACCATT 0.622000 4 86 0 0 1 0 0 TLK2 11011 broad.mit.edu 37 17 60601629 60601629 + Silent SNP T T G TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr17:60601629T>G ENST00000326270.9 + 6 568 c.300T>G c.(298-300)ccT>ccG p.P100P TLK2_ENST00000346027.5_Silent_p.P100P|TLK2_ENST00000542523.1_Intron|TLK2_ENST00000582809.1_5'UTR|TLK2_ENST00000343388.7_Intron Q86UE8 TLK2_HUMAN tousled-like kinase 2 100 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 GAACCAGCCCTGGCAGAAGTG 0.473000 3 6 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169644361 169644361 + Missense_Mutation SNP C C T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr3:169644361C>T ENST00000428432.2 + 6 700 c.311C>T c.(310-312)gCt>gTt p.A104V SAMD7_ENST00000335556.3_Missense_Mutation_p.A104V NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 104 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) GAAATGTATGCTATTTACCAG 0.408000 4 44 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140943691 140943691 + Missense_Mutation SNP G G A TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr9:140943691G>A ENST00000277549.5 + 24 3779 c.1210G>A c.(1210-1212)Gga>Aga p.G404R CACNA1B_ENST00000371357.1_Missense_Mutation_p.G1213R|CACNA1B_ENST00000371372.1_Missense_Mutation_p.G1212R|CACNA1B_ENST00000277551.2_Missense_Mutation_p.G1212R|CACNA1B_ENST00000545473.1_3'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.G1213R|CACNA1B_ENST00000371363.1_Missense_Mutation_p.G1212R Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1212 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GCTTCACCCTGGAGCCTATTT 0.532000 3 44 0 0 1 0 0 GSN 2934 broad.mit.edu 37 9 124094713 124094713 + Splice_Site SNP T T A TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr9:124094713T>A ENST00000373823.3 + 25 2933 c.2026_splice c.e25-1 p.A676_splice GSN_ENST00000436847.1_Splice_Site_p.A687_splice|GSN_ENST00000449733.1_Splice_Site_p.A676_splice|GSN_ENST00000394353.2_Splice_Site_p.A687_splice|GSN_ENST00000341272.2_Splice_Site_p.A676_splice|GSN_ENST00000545652.1_Splice_Site_p.A684_splice|GSN_ENST00000412819.1_Splice_Site_p.A676_splice|GSN_ENST00000373818.4_Splice_Site_p.A727_splice|GSN_ENST00000373808.2_Splice_Site_p.A676_splice|GSN_ENST00000373806.1_Splice_Site_p.A152_splice P06396 GELS_HUMAN gelsolin 727 Actin-binding, Ca-sensitive (Potential). actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1) 21 TGTCTGCAGCTAAGCGGTACA 0.577000 OREG0019445 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 31 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr3:178952085A>G ENST00000263967.3 + 21 3297 c.3140A>G c.(3139-3141)cAt>cGt p.H1047R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1387)|p.H1047L(194)|p.H1047P(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378000 H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 14 29 0 0 1 0 0 LRRC15 131578 broad.mit.edu 37 3 194080647 194080647 + Missense_Mutation SNP G G A TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr3:194080647G>A ENST00000347624.3 - 2 1211 c.1126C>T c.(1126-1128)Cgc>Tgc p.R376C LRRC15_ENST00000428839.1_Missense_Mutation_p.R382C|LRRC15_ENST00000439944.2_Missense_Mutation_p.R382C NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 376 integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 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;4.94e-05) TGTCTGAGGCGGTTGTTCTGC 0.587000 11 30 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120475154 120475154 + Silent SNP C C T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr9:120475154C>T ENST00000355622.6 + 3 849 c.748C>T c.(748-750)Ctg>Ttg p.L250L TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L210L NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 250 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 TATTCAAGGTCTGGCTGGTTT 0.348000 20 52 0 0 1 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011562 46011562 + Missense_Mutation SNP G G C TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr21:46011562G>C ENST00000400368.1 - 1 824 c.804C>G c.(802-804)caC>caG p.H268Q TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 268 29 X 5 AA repeats of C-C-X(3). keratin filament p.H268Q(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 CACAGCAGGCGTGCTGGCAGG 0.642000 4 106 0 0 1 0 0 OR2A14 135941 broad.mit.edu 37 7 143826862 143826862 + Silent SNP C C T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr7:143826862C>T ENST00000408899.2 + 1 712 c.657C>T c.(655-657)cgC>cgT p.R219R NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) CCTACTTGCGCATCCTGGCCG 0.612000 6 169 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31576284 31576284 + Missense_Mutation SNP G G C TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr14:31576284G>C ENST00000399332.1 - 38 7282 c.6794C>G c.(6793-6795)cCt>cGt p.P2265R HECTD1_ENST00000553700.1_Missense_Mutation_p.P2265R NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 2265 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TTTAGAAATAGGTAAGTCCAC 0.358000 26 74 0 0 1 0 0 PDCD2 5134 broad.mit.edu 37 6 170893398 170893398 + Missense_Mutation SNP G G A TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr6:170893398G>A ENST00000541970.1 - 1 350 c.272C>T c.(271-273)gCc>gTc p.A91V PDCD2_ENST00000453163.2_Missense_Mutation_p.A91V|PDCD2_ENST00000542896.1_Missense_Mutation_p.A91V|PDCD2_ENST00000537445.1_Missense_Mutation_p.A58V|PDCD2_ENST00000392090.2_Missense_Mutation_p.A58V|PDCD2_ENST00000443345.2_Missense_Mutation_p.A58V NM_001199462.1|NM_002598.3 NP_001186391.1|NP_002589.2 Q16342 PDCD2_HUMAN programmed cell death 2 91 apoptosis cytoplasm|nucleus DNA binding|protein binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(1)|lung(5) 9 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142) TCGCAGGCCGGCACAGCACGG 0.711000 3 47 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240370979 240370979 + Missense_Mutation SNP C C T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr1:240370979C>T ENST00000319653.9 + 5 3097 c.2867C>T c.(2866-2868)cCg>cTg p.P956L NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 956 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.P1099L(2) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) ATACCCCCTCCGCCCCCTCTT 0.697000 15 26 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381605.4_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 5 35 0 0 1 0 0 CREB3L1 90993 broad.mit.edu 37 11 46333948 46333948 + Missense_Mutation SNP C C A TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr11:46333948C>A ENST00000529193.1 + 6 1277 c.826C>A c.(826-828)Ccc>Acc p.P276T CREB3L1_ENST00000288400.3_Missense_Mutation_p.P276T Q96BA8 CR3L1_HUMAN cAMP responsive element binding protein 3-like 1 276 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L1(6) NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3) 12 GBM - Glioblastoma multiforme(35;0.0285) TGAGGGCTACCCCATCCCCAC 0.547000 T FUS myxofibrosarcoma 4 22 0.00024832 0.000263601 1 1 0 BAGE2 85319 broad.mit.edu 37 21 11097573 11097573 + RNA SNP C C T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr21:11097573C>T ENST00000470054.1 - 0 296 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) aggctccaacctccagctcac 0.542000 4 39 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149522071 149522071 + RNA SNP C C A TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr7:149522071C>A ENST00000378016.2 + 0 13858 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) CCAGTGGAGTCTGTGGGGGCC 0.652000 2 1 0.0016 0.00162353 1 1 0 TRPM4 54795 broad.mit.edu 37 19 49692202 49692202 + Splice_Site SNP G G C TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr19:49692202G>C ENST00000252826.5 + 14 1999 c.e14-1 TRPM4_ENST00000355712.5_Splice_Site|TRPM4_ENST00000427978.2_Splice_Site NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CTCTGCCCCAGACCTCTTTGG 0.607000 45 131 0 0 1 0 0 SLC9A8 23315 broad.mit.edu 37 20 48479505 48479505 + Silent SNP C C G TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr20:48479505C>G ENST00000417961.1 + 9 1011 c.801C>G c.(799-801)gtC>gtG p.V267V SLC9A8_ENST00000361573.2_Silent_p.V251V|SLC9A8_ENST00000539601.1_Silent_p.V32V|SLC9A8_ENST00000541138.1_Intron NM_001260491.1|NM_015266.2 NP_001247420.1|NP_056081.1 Q9Y2E8 SL9A8_HUMAN solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 251 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) TGTCAGATGTCAGTGGGTGGC 0.358000 20 55 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168105160 168105160 + Missense_Mutation SNP C C A TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr2:168105160C>A ENST00000409195.1 + 9 7347 c.7258C>A c.(7258-7260)Cca>Aca p.P2420T XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2198T|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2420T|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2245 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CGGTGTGTTGCCACCTCCCAC 0.423000 13 43 9.31168e-06 1.01985e-05 1 1 0 YTHDC1 91746 broad.mit.edu 37 4 69203566 69203566 + Frame_Shift_Del DEL C C - TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr4:69203566delC ENST00000344157.4 - 3 518 c.183delG c.(181-183)aafs p.K61fs YTHDC1_ENST00000355665.3_Frame_Shift_Del_p.K61fs|YTHDC1_ENST00000579690.1_Frame_Shift_Del_p.K61fs NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 61 NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 GGACAGAAGGCTTTTGTCGTT 0.328 18 39 --- --- --- --- FAM92A1P2 0 broad.mit.edu 37 4 183959378 183959379 + RNA INS - - A TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr4:183959378_183959379insA ENST00000502308.1 + 0 561_562 NR_003612.1 TTTCGACCTTTAAAAAAAACGT 0.475 3 3 --- --- --- --- RBM19 9904 broad.mit.edu 37 12 114358497 114358498 + Splice_Site INS - - GA TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chr12:114358497_114358498insGA ENST00000545145.2 - 19 2384 c.e19-2 RBM19_ENST00000392561.3_Splice_Site|RBM19_ENST00000261741.5_Splice_Site NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) GGAGCACTCCTGAGAGAGAGAG 0.545 17 196 --- --- --- --- GAGE2D 729408 broad.mit.edu 37 X 49208295 49208296 + In_Frame_Ins INS - - TAT TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a3512f7-1306-483f-a744-ffefce67c8d2 8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3 g.chrX:49208295_49208296insTAT ENST00000404720.2 + 2 96_97 c.24_25insTAT c.(22-27)acatcg>acTATatcg p.8_9TS>TIS NM_001098407.1|NM_012196.1 NP_001091877.1|NP_036328.1 G antigen 2D GAAGATCGACCTATCGGCCTAG 0.465 3 3 --- --- --- ---