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 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 5 76 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390482 45390482 + Missense_Mutation SNP C C G TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr6:45390482C>G ENST00000371438.1 + 2 569 c.211C>G c.(211-213)Cag>Gag p.Q71E RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 71 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 gcagcagcagcaggaggcggc 0.716000 4 18 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6677968 6677968 + Silent SNP G G A TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr19:6677968G>A ENST00000245907.6 - 41 5009 c.4917C>T c.(4915-4917)gaC>gaT p.D1639D C3_ENST00000599668.1_5'UTR NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1639 NTR. complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GGTTCTCTTCGTCTTGGCATT 0.597000 32 51 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136596694 136596694 + Missense_Mutation SNP C C A TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr6:136596694C>A ENST00000531224.1 - 6 2080 c.1828G>T c.(1828-1830)Gtg>Ttg p.V610L BCLAF1_ENST00000530767.1_Missense_Mutation_p.V437L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.V608L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.V610L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.V608L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.V608L NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 610 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) ACCAAGGACACAATGTGTTGA 0.353000 14 123 5.35267e-07 5.42701e-07 1 1 0 TP53 7157 broad.mit.edu 37 17 7577124 7577124 + Missense_Mutation SNP C C T rs121912657 TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr17:7577124C>T ENST00000420246.2 - 8 946 c.814G>A c.(814-816)Gtg>Atg p.V272M TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000269305.4_Missense_Mutation_p.V272M NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 272 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and 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.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) CAAACACGCACCTCAAAGCTG 0.527000 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) 30 2 0 0 1 0 0 TPST1 8460 broad.mit.edu 37 7 65705883 65705883 + Nonsense_Mutation SNP T T A TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr7:65705883T>A ENST00000304842.5 + 2 896 c.471T>A c.(469-471)tgT>tgA p.C157* TPST1_ENST00000480281.1_Intron NM_003596.3 NP_003587.1 O60507 TPST1_HUMAN tyrosylprotein sulfotransferase 1 157 inflammatory response|peptidyl-tyrosine sulfation Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 CTTATTTATGTAATAAAGATC 0.443000 46 35 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56552352 56552352 + Missense_Mutation SNP C C T TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr19:56552352C>T ENST00000390649.3 + 11 2851 c.2851C>T c.(2851-2853)Cgg>Tgg p.R951W NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 951 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CGTCAGCAACCGGAGCTTGAC 0.562000 46 17 0 0 1 0 0 KCNN2 3781 broad.mit.edu 37 5 113698614 113698614 + Missense_Mutation SNP T T C TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr5:113698614T>C ENST00000512097.3 + 2 1160 c.142T>C c.(142-144)Tcc>Ccc p.S48P KCNN2_ENST00000264773.3_Missense_Mutation_p.S48P Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 48 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CGGCGCGTCCTCCCCGTCTGC 0.692000 3 15 0 0 1 0 0 MAPK15 225689 broad.mit.edu 37 8 144802971 144802971 + Nonsense_Mutation SNP T T G TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr8:144802971T>G ENST00000338033.4 + 9 997 c.878T>G c.(877-879)tTa>tGa p.L293* NM_139021.2 NP_620590.2 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 293 Protein kinase. protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1) 12 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) GACAAGCGGTTAAGCGCGACC 0.672000 15 23 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 9 135 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23874315 23874315 + Missense_Mutation SNP A A T TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr14:23874315A>T ENST00000405093.3 - 6 594 c.524T>A c.(523-525)cTc>cAc p.L175H MYH6_ENST00000356287.3_Missense_Mutation_p.L175H NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 175 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TCACGTGATGAGGATGGACTG 0.582000 4 123 0 0 1 0 0 MARCH7 64844 broad.mit.edu 37 2 160605198 160605198 + Missense_Mutation SNP C C T TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr2:160605198C>T ENST00000259050.3 + 5 1519 c.1397C>T c.(1396-1398)tCg>tTg p.S466L MARCH7_ENST00000409591.1_Missense_Mutation_p.S428L|MARCH7_ENST00000409175.1_Missense_Mutation_p.S466L|MARCH7_ENST00000539065.1_Missense_Mutation_p.S410L NM_022826.2 NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase 466 ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 ACATCAGATTCGGCTCAAGGT 0.493000 5 240 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_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 4 126 0 0 1 0 0 FAM193A 8603 broad.mit.edu 37 4 2701539 2701539 + Missense_Mutation SNP C C T TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr4:2701539C>T ENST00000324666.5 + 17 3118 c.2767C>T c.(2767-2769)Cgg>Tgg p.R923W FAM193A_ENST00000545951.1_Missense_Mutation_p.R923W|FAM193A_ENST00000505311.1_Missense_Mutation_p.R923W|FAM193A_ENST00000382839.3_Missense_Mutation_p.R923W|FAM193A_ENST00000502458.1_Missense_Mutation_p.R945W NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 923 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 GGAATTTCAGCGGCTTCAGGA 0.537000 4 52 0 0 1 0 0 FZD1 8321 broad.mit.edu 37 7 90895601 90895601 + Missense_Mutation SNP A A G TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr7:90895601A>G ENST00000287934.2 + 1 1819 c.1406A>G c.(1405-1407)gAc>gGc p.D469G NM_003505.1 NP_003496.1 Q9UP38 FZD1_HUMAN frizzled family receptor 1 469 autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) GGCCAGGTGGACGGCGATGTG 0.632000 69 109 0 0 1 0 0 GPR52 9293 broad.mit.edu 37 1 174417494 174417494 + Missense_Mutation SNP C C T TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr1:174417494C>T ENST00000367685.2 + 1 283 c.245C>T c.(244-246)aCg>aTg p.T82M RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000357444.6_Intron NM_005684.4 NP_005675.3 Q9Y2T5 GPR52_HUMAN G protein-coupled receptor 52 82 integral to plasma membrane G-protein coupled receptor activity breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2) 20 TTCATTCAGACGATGGCATAT 0.428000 5 242 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 8 149 0 0 1 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298550 125298550 + Missense_Mutation SNP C C T TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chrX:125298550C>T ENST00000538699.1 - 2 1438 c.1358G>A c.(1357-1359)gGc>gAc p.G453D DCAF12L2_ENST00000360028.2_Missense_Mutation_p.G453D NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 453 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 CCCATGGAGGCCTGAAGGGAG 0.547000 57 71 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29633901 29633901 + Silent SNP A A G rs139362347 by1000genomes TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr20:29633901A>G ENST00000278882.3 + 9 920 c.540A>G c.(538-540)gaA>gaG p.E180E FRG1B_ENST00000358464.4_Silent_p.E180E endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AAACAAGAGAACCAAATTGAA 0.269000 4 182 0 0 1 0 0 RBL1 5933 broad.mit.edu 37 20 35672586 35672586 + Missense_Mutation SNP A A G TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr20:35672586A>G ENST00000373664.3 - 13 1739 c.1673T>C c.(1672-1674)aTt>aCt p.I558T RBL1_ENST00000344359.3_Missense_Mutation_p.I558T NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 558 Domain A.|Pocket; binds T and E1A. cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) CTGTTCTTCAATGCTGTTTAG 0.478000 33 67 0 0 1 0 0 SLAMF9 89886 broad.mit.edu 37 1 159922090 159922090 + Missense_Mutation SNP A A G TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr1:159922090A>G ENST00000368093.3 - 3 742 c.626T>C c.(625-627)gTc>gCc p.V209A SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR NM_033438.3 NP_254273.2 Q96A28 SLAF9_HUMAN SLAM family member 9 209 Ig-like C2-type. integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCAAGAACTGACGTTGCTGAT 0.567000 41 58 0 0 1 0 0 JAK3 3718 broad.mit.edu 37 19 17954587 17954587 + Splice_Site SNP G G A TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr19:17954587G>A ENST00000458235.1 - 3 406 c.308_splice c.e3+1 p.R103_splice JAK3_ENST00000527670.1_Splice_Site_p.R103_splice|JAK3_ENST00000534444.1_Splice_Site_p.R103_splice|JAK3_ENST00000526008.1_5'UTR NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 103 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). R -> RS (in Ref. 3; AAC50950). B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 ACTTCCTACCGAATCCTGTAC 0.592000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 20 47 0 0 1 0 0 COX10-AS1 0 broad.mit.edu 37 17 13927814 13927814 + RNA SNP A A T rs141406384 by1000genomes TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr17:13927814A>T ENST00000602743.1 - 0 224 TTGGTGGGAGACGCTCAAGAG 0.512000 3 0 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 5 139 0 0 1 0 0 GALNT5 11227 broad.mit.edu 37 2 158115046 158115046 + Missense_Mutation SNP C C A TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr2:158115046C>A ENST00000259056.4 + 1 937 c.452C>A c.(451-453)cCt>cAt p.P151H NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 151 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 GGCACCAAACCTGAAGCCTCC 0.542000 11 38 0.00316338 0.00316338 1 1 0 OR6Y1 391112 broad.mit.edu 37 1 158517240 158517240 + Missense_Mutation SNP A A G TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr1:158517240A>G ENST00000302617.3 - 1 655 c.656T>C c.(655-657)gTg>gCg p.V219A NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) GGATGCCACCACAACACAAAG 0.552000 23 48 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 7 336 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628251 29628251 + Missense_Mutation SNP A A G TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr20:29628251A>G ENST00000278882.3 + 6 633 c.253A>G c.(253-255)Aat>Gat p.N85D FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D|FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D p.N85D(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTGGCCTCAAATAGCTGCTT 0.358000 6 155 0 0 1 0 0 CSF2RA 0 broad.mit.edu 37 X 1407750 1407750 + Missense_Mutation SNP G G A TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chrX:1407750G>A ENST00000381524.3 + 6 628 c.442G>A c.(442-444)Gtc>Atc p.V148I CSF2RA_ENST00000381529.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000355432.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000381509.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000361536.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000381500.1_Missense_Mutation_p.V148I|CSF2RA_ENST00000355805.2_Missense_Mutation_p.V148I|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V148I|CSF2RA_ENST00000501036.2_Missense_Mutation_p.V15I|CSF2RA_ENST00000417535.2_Missense_Mutation_p.V148I P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 148 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) CCCCCGTGACGTCCAGTATTT 0.468000 68 70 0 0 1 0 0 FFAR2 2867 broad.mit.edu 37 19 35941457 35941457 + Missense_Mutation SNP C C T TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr19:35941457C>T ENST00000599180.1 + 2 921 c.841C>T c.(841-843)Cgc>Tgc p.R281C FFAR2_ENST00000246549.2_Missense_Mutation_p.R281C|FFAR2_ENST00000601590.1_Intron O15552 FFAR2_HUMAN free fatty acid receptor 2 281 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TTCAGTGGTGCGCAGGGCATT 0.577000 214 83 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100677440 100677440 + Missense_Mutation SNP C C T TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr7:100677440C>T ENST00000306151.4 + 3 2807 c.2743C>T c.(2743-2745)Cca>Tca p.P915S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 915 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TACCAGCATGCCAACCTCAAC 0.507000 7 635 0 0 1 0 0 LTB4R 1241 broad.mit.edu 37 14 24785430 24785430 + Silent SNP G G T TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr14:24785430G>T ENST00000396789.4 + 2 2298 c.573G>T c.(571-573)ctG>ctT p.L191L LTB4R_ENST00000345363.3_Silent_p.L191L|LTB4R_ENST00000396782.2_Silent_p.L191L NM_181657.3 NP_858043.1 Q15722 LT4R1_HUMAN leukotriene B4 receptor 191 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(265;0.018) CGGGCTTCCTGCTGCCCTTCC 0.672000 86 48 2.56433e-40 2.63656e-40 1 1 0 CHGB 1114 broad.mit.edu 37 20 5905691 5905691 + Missense_Mutation SNP G G A TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr20:5905691G>A ENST00000378961.4 + 5 2234 c.2030G>A c.(2029-2031)gGc>gAc p.G677D NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 677 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 AGCCAAAGGGGCTGACTGTCA 0.438000 22 22 0 0 1 0 0 RBM10 8241 broad.mit.edu 37 X 47044862 47044862 + Missense_Mutation SNP G G A TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chrX:47044862G>A ENST00000377604.3 + 20 2930 c.2188G>A c.(2188-2190)Gca>Aca p.A730T RBM10_ENST00000329236.7_Missense_Mutation_p.A652T|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Missense_Mutation_p.A653T NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 730 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 AGGACTGGTGGCAGCCTACAG 0.682000 4 3 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 40 70 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 5 144 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155255024 155255024 + RNA SNP C C T TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chrX:155255024C>T ENST00000285718.7 + 0 1329 WASH6P_ENST00000461007.1_RNA AGGACGAGGACGACTGGGAAT 0.647000 5 11 0 0 1 0 0 NOMO2 283820 broad.mit.edu 37 16 18554945 18554945 + Silent SNP A A C TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr16:18554945A>C ENST00000330537.6 - 7 899 c.729T>G c.(727-729)acT>acG p.T243T NOMO2_ENST00000381474.3_Silent_p.T243T|NOMO2_ENST00000543392.1_Silent_p.T76T NM_173614.2 NP_775885.1 Q5JPE7 NOMO2_HUMAN NODAL modulator 2 243 endoplasmic reticulum membrane|integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1) 20 TTACCTCTTTAGTTACTAAAG 0.438000 53 92 0 0 1 0 0 SLC25A38 54977 broad.mit.edu 37 3 39433035 39433035 + Missense_Mutation SNP T T A TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr3:39433035T>A ENST00000273158.4 + 4 757 c.380T>A c.(379-381)gTc>gAc p.V127D NM_017875.2 NP_060345.2 Q96DW6 S2538_HUMAN solute carrier family 25, member 38 127 erythrocyte differentiation|heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1) 11 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) CTGGAGTCAGTCATGCTGGGG 0.527000 5 275 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 3 9 0 0 1 0 0 AP005901.1 0 broad.mit.edu 37 18 15323347 15323347 + RNA SNP T T C TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr18:15323347T>C ENST00000455308.2 - 0 501 NR_027417.1 CCAATAAAAGTGGTGTGTGGC 0.303000 5 25 0 0 1 0 0 SLC9A3R2 9351 broad.mit.edu 37 16 2087555 2087555 + Missense_Mutation SNP C C T TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr16:2087555C>T ENST00000424542.2 + 6 947 c.809C>T c.(808-810)gCg>gTg p.A270V SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.A270V|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.A164V|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.A159V NM_001130012.2|NM_004785.5 NP_001123484.1|NP_004776.3 Q15599 NHRF2_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2 270 protein complex assembly apical plasma membrane|endomembrane system|nucleus beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding central_nervous_system(1)|endometrium(1) 2 GGTGGCTCTGCGTGCTCGTCC 0.582000 3 23 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76938344 76938344 + Missense_Mutation SNP T T C TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chrX:76938344T>C ENST00000373344.5 - 9 2618 c.2404A>G c.(2404-2406)Ata>Gta p.I802V ATRX_ENST00000395603.3_Missense_Mutation_p.I764V|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 802 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTAGAAATTATAGAGCTCTTA 0.368000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 188 186 0 0 1 0 0 GLTSCR2 29997 broad.mit.edu 37 19 48248981 48248981 + Silent SNP G G A TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr19:48248981G>A ENST00000246802.5 + 1 203 c.165G>A c.(163-165)ccG>ccA p.P55P GLTSCR2_ENST00000598681.1_3'UTR NM_015710.4 NP_056525.2 Q9NZM5 GSCR2_HUMAN glioma tumor suppressor candidate region gene 2 55 nucleolus central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 15 all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278) CTCAGGAGCCGCTGGGGCTGG 0.697000 3 11 0 0 1 0 0 CNGA4 1262 broad.mit.edu 37 11 6261635 6261635 + Missense_Mutation SNP C C T TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr11:6261635C>T ENST00000379936.2 + 4 726 c.611C>T c.(610-612)cCg>cTg p.P204L CNGA4_ENST00000533426.1_Intron NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 204 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGGTGTACCCGGACCCCGCG 0.567000 16 169 0 0 1 0 0 CEP55 55165 broad.mit.edu 37 10 95276727 95276727 + Missense_Mutation SNP G G A TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr10:95276727G>A ENST00000371485.3 + 6 1019 c.715G>A c.(715-717)Gat>Aat p.D239N NM_001127182.1|NM_018131.4 NP_001120654.1|NP_060601.3 Q53EZ4 CEP55_HUMAN centrosomal protein 55kDa 239 cell division|mitosis centriole|cleavage furrow|midbody kidney(1)|large_intestine(5)|lung(6)|stomach(1) 13 Colorectal(252;0.207) ATGTTACAACGATCTCTTGGC 0.333000 22 54 0 0 1 0 0 TJP2 9414 broad.mit.edu 37 9 71861646 71861646 + Silent SNP C C T TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr9:71861646C>T ENST00000377245.4 + 18 2815 c.2607C>T c.(2605-2607)ggC>ggT p.G869G TJP2_ENST00000539225.1_Silent_p.G900G|TJP2_ENST00000265384.7_Silent_p.G869G|TJP2_ENST00000453658.2_Silent_p.G846G|TJP2_ENST00000535702.1_Silent_p.G873G|TJP2_ENST00000348208.4_Silent_p.G869G|TJP2_ENST00000498204.1_3'UTR NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 869 Guanylate kinase-like. cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 GCTGGTTTGGCAGCTTAAAGG 0.408000 4 99 0 0 1 0 0 ADCY3 109 broad.mit.edu 37 2 25141329 25141329 + Silent SNP G G A TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr2:25141329G>A ENST00000260600.5 - 1 1379 c.528C>T c.(526-528)gtC>gtT p.V176V NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 176 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) AGAAGGAGAAGACAAAGAAGA 0.612000 38 33 0 0 1 0 0 ERAS 3266 broad.mit.edu 37 X 48688182 48688182 + Missense_Mutation SNP G G A TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chrX:48688182G>A ENST00000338270.1 + 1 900 c.649G>A c.(649-651)Gag>Aag p.E217K NM_181532.2 NP_853510.1 Q7Z444 RASE_HUMAN ES cell expressed Ras 217 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 14 GTCCTGTAGGGAGAAGACCCG 0.607000 9 12 0 0 1 0 0 TKT 7086 broad.mit.edu 37 3 53264614 53264614 + Silent SNP C C T TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr3:53264614C>T ENST00000462138.1 - 8 1054 c.966G>A c.(964-966)ggG>ggA p.G322G TKT_ENST00000461139.1_5'UTR|TKT_ENST00000296289.6_Silent_p.G275G|TKT_ENST00000423516.1_Silent_p.G330G|TKT_ENST00000423525.2_Silent_p.G322G P29401 TKT_HUMAN transketolase 322 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|transketolase activity endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 Prostate(884;0.0959) BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201) Thiamine(DB00152) CCAGTGCCTGCCCGTAGGCCT 0.597000 16 28 0 0 1 0 0 AP005901.1 0 broad.mit.edu 37 18 15323336 15323336 + RNA SNP G G A TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr18:15323336G>A ENST00000455308.2 - 0 512 NR_027417.1 TTTCCTTATGGCCAATAAAAG 0.289000 6 26 0 0 1 0 0 FAM96A 84191 broad.mit.edu 37 15 64381046 64381046 + Missense_Mutation SNP C C G TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr15:64381046C>G ENST00000557835.1 - 2 155 c.129G>C c.(127-129)ttG>ttC p.L43F FAM96A_ENST00000559950.1_Missense_Mutation_p.L43F|FAM96A_ENST00000300030.3_Missense_Mutation_p.L43F|FAM96A_ENST00000380290.3_Missense_Mutation_p.L43F Q9H5X1 FA96A_HUMAN family with sequence similarity 96, member A 43 chromosome segregation kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 9 TAGTTCTAATCAAATCTAAAG 0.348000 36 38 0 0 1 0 0 RASEF 158158 broad.mit.edu 37 9 85605368 85605368 + Missense_Mutation SNP T T G TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr9:85605368T>G ENST00000376447.3 - 16 2315 c.2055A>C c.(2053-2055)ttA>ttC p.L685F NM_152573.2 NP_689786.2 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 685 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 TTTCACAGAATAATGCCCCAT 0.348000 48 59 0 0 1 0 0 FAM24A 118670 broad.mit.edu 37 10 124671156 124671156 + Silent SNP A A G TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr10:124671156A>G ENST00000368894.1 + 2 127 c.6A>G c.(4-6)gcA>gcG p.A2A NM_001029888.1 NP_001025059.1 A6NFZ4 FA24A_HUMAN family with sequence similarity 24, member A 2 extracellular region large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 9 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141) TAGGCATGGCAAAGATGTTTG 0.502000 78 108 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr20:29625934C>T ENST00000278882.3 + 5 558 c.178C>T c.(178-180)Cat>Tat p.H60Y FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTTGTTGGGCATTCAGATGC 0.338000 6 137 0 0 1 0 0 MMAB 326625 broad.mit.edu 37 12 109998861 109998861 + Missense_Mutation SNP G G A TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr12:109998861G>A ENST00000545712.2 - 7 961 c.568C>T c.(568-570)Cgc>Tgc p.R190C MMAB_ENST00000540016.1_Missense_Mutation_p.R138C|MMAB_ENST00000266839.5_Missense_Mutation_p.R99C NM_052845.3 NP_443077.1 Q96EY8 MMAB_HUMAN methylmalonic aciduria (cobalamin deficiency) cblB type 190 cobalamin biosynthetic process mitochondrion ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TCGGCCCGGCGGCACACGGCC 0.652000 10 42 0 0 1 0 0 ATF4P4 0 broad.mit.edu 37 11 113661308 113661308 + RNA SNP A A G TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr11:113661308A>G ENST00000393544.2 + 0 1356 GAGAAAATGGATTTGAAGGAG 0.478000 67 55 0 0 1 0 0 FOXO4 4303 broad.mit.edu 37 X 70321220 70321220 + Silent SNP C C T TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chrX:70321220C>T ENST00000374259.3 + 2 1472 c.1140C>T c.(1138-1140)gaC>gaT p.D380D FOXO4_ENST00000341558.3_Silent_p.D325D NM_001170931.1|NM_005938.3 NP_001164402.1|NP_005929.2 P98177 FOXO4_HUMAN forkhead box O4 380 cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1) 18 Renal(35;0.156) CCCCTGCTGACGTCCTCATGA 0.652000 6 42 0 0 1 0 0 SEMA3A 10371 broad.mit.edu 37 7 83823801 83823801 + Missense_Mutation SNP T T G TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr7:83823801T>G ENST00000265362.3 - 1 416 c.102A>C c.(100-102)ttA>ttC p.L34F SEMA3A_ENST00000436949.1_Missense_Mutation_p.L34F NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 34 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 CTTTGTAGGATAATTTCAGCC 0.408000 62 75 0 0 1 0 0 RASAL2 9462 broad.mit.edu 37 1 178427190 178427190 + Silent SNP G G A TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr1:178427190G>A ENST00000448150.3 + 14 3548 c.2730G>A c.(2728-2730)tcG>tcA p.S910S RASAL2_ENST00000462775.1_Silent_p.S780S|RASAL2_ENST00000367649.3_Silent_p.S921S NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 780 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 AGCCCTTGTCGTTCCAGAACC 0.542000 12 60 0 0 1 0 0 KIF13B 23303 broad.mit.edu 37 8 29043864 29043864 + Missense_Mutation SNP C C T TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr8:29043864C>T ENST00000524189.1 - 6 480 c.442G>A c.(442-444)Gtg>Atg p.V148M KIF13B_ENST00000521515.1_Missense_Mutation_p.V148M NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 148 Kinesin-motor. microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) ATGTAGGACACTTCTACTTTA 0.393000 10 177 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625885 29625885 + Missense_Mutation SNP A A T TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr20:29625885A>T ENST00000278882.3 + 5 509 c.129A>T c.(127-129)aaA>aaT p.K43N FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N|FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N p.K43N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCGCCCTGAAATCTGGCTATG 0.353000 5 149 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76491163 76491163 + Missense_Mutation SNP C C T TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr17:76491163C>T ENST00000389840.5 - 39 6002 c.5878G>A c.(5878-5880)Gtc>Atc p.V1960I DNAH17_ENST00000585328.1_Missense_Mutation_p.V1969I|RP11-559N14.5_ENST00000591373.1_RNA dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AAGTCGGGGACGACCATGGCA 0.607000 4 8 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11038748 11038748 + RNA SNP C C T rs75164355 by1000genomes TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr21:11038748C>T ENST00000470054.1 - 0 1455 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) CGAGGTCTACCAGGAGAAAAT 0.378000 8 245 0 0 1 0 0 AP005901.1 0 broad.mit.edu 37 18 15323340 15323340 + RNA SNP A A G TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr18:15323340A>G ENST00000455308.2 - 0 508 NR_027417.1 CTTATGGCCAATAAAAGTGGT 0.299000 6 27 0 0 1 0 0 KRT73 319101 broad.mit.edu 37 12 53008439 53008439 + Missense_Mutation SNP G G A rs142246988 byFrequency TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr12:53008439G>A ENST00000305748.3 - 4 777 c.743C>T c.(742-744)aCg>aTg p.T248M RP11-641A6.2_ENST00000552364.1_RNA NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 248 Coil 1B.|Rod. T -> M (in a colorectal cancer sample; somatic mutation). keratin filament structural molecule activity p.T248M(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) CACTTTGCTCGTGTAAGCTGC 0.577000 42 38 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74575212 74575213 + Frame_Shift_Ins INS - - T TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr1:74575212_74575213insT ENST00000354431.4 - 5 923_924 c.732_733insA c.(730-735)aaagcafs p.A245fs LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs|LRRIQ3_ENST00000468759.1_5'UTR NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 245 QQEKII -> TAGKNY (in Ref. 1; BAD18621). NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTTTCCTGCTGTTTTTTTTTGT 0.327 9 123 --- --- --- --- RTN4 57142 broad.mit.edu 37 2 55253745 55253746 + Frame_Shift_Ins INS - - T TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr2:55253745_55253746insT ENST00000337526.6 - 3 1732_1733 c.1489_1490insA c.(1489-1491)agafs p.R497fs RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.R265fs|RTN4_ENST00000357732.4_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 497 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 CTTTTCTTCTATTTTTTTTTCA 0.381 7 110 --- --- --- --- CAPN10 11132 broad.mit.edu 37 2 241531435 241531435 + Frame_Shift_Del DEL A A - TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr2:241531435delA ENST00000391984.2 + 4 752 c.556delA c.(556-558)acfs p.N186fs CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000391982.2_Frame_Shift_Del_p.N186fs|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Frame_Shift_Del_p.N186fs|CAPN10_ENST00000354082.4_Frame_Shift_Del_p.N186fs NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 186 Calpain catalytic. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) AGAAAGATGGAACCTGAAGGG 0.657 2 4 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102295874 102295876 + RNA DEL CTC CTC - rs2943079 TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr15:102295874_102295876delCTC ENST00000561463.1 + 0 3920_3922 AGTTCATCTTCTCAGAGCTGCTG 0.581 3 6 --- --- --- --- CACNA1H 8912 broad.mit.edu 37 16 1268228 1268228 + Frame_Shift_Del DEL T T - TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr16:1268228delT ENST00000348261.5 + 33 5712 c.5464delT c.(5464-5466)ccfs p.S1822fs CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.S1816fs|CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.S1816fs NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1822 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GCGCGAGTGCTCCCGTGAGGA 0.697 2 4 --- --- --- --- U3 0 broad.mit.edu 37 17 42102427 42102427 + RNA DEL A A - TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr17:42102427delA ENST00000408117.1 - 0 164 ttcccgaaggaagaggagcag 0.557 2 4 --- --- --- --- SUGP2 10147 broad.mit.edu 37 19 19136394 19136394 + Frame_Shift_Del DEL T T - TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr19:19136394delT ENST00000601879.1 - 3 1060 c.763delA c.(763-765)tafs p.I255fs SUGP2_ENST00000600377.1_Frame_Shift_Del_p.I269fs|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000452918.2_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000337018.6_Frame_Shift_Del_p.I255fs Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 255 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 ACGGTGGGTATTTTTTTTGTG 0.502 7 195 --- --- --- --- ZC3H4 23211 broad.mit.edu 37 19 47569810 47569810 + Frame_Shift_Del DEL C C - TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr19:47569810delC ENST00000253048.5 - 15 3752 c.3715delG c.(3715-3717)agfs p.E1239fs ZC3H4_ENST00000594019.1_5'UTR NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 1239 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GGGGCACCCTCGGGGGGTGGG 0.701 2 4 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29625899 29625900 + Frame_Shift_Ins INS - - AT TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chr20:29625899_29625900insAT ENST00000278882.3 + 5 523_524 c.143_144insAT c.(142-144)atafs p.I48fs FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTATGGAAAATATCTTGGTA 0.342 9 187 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76938331 76938331 + Frame_Shift_Del DEL T T - TCGA-S9-A7R8-01A-11D-A34J-08 TCGA-S9-A7R8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f2bae49-b44d-4a18-a879-f8e2cfd101f7 558b5281-6ff0-4b99-abbe-a31fb76d06b4 g.chrX:76938331delT ENST00000373344.5 - 9 2631 c.2417delA c.(2416-2418)agfs p.K807fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K769fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 807 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTGTCGTTTCTTTTTAGAAAT 0.338 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 179 185 --- --- --- ---