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 ZDHHC3 51304 broad.mit.edu 37 3 44974664 44974664 + Missense_Mutation SNP C C T TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr3:44974664C>T ENST00000296127.3 - 5 829 c.556G>A c.(556-558)Gcc>Acc p.A186T ZDHHC3_ENST00000424952.2_Missense_Mutation_p.A186T|ZDHHC3_ENST00000342790.4_Missense_Mutation_p.A220T NM_016598.2 NP_057682.1 Q9NYG2 ZDHC3_HUMAN zinc finger, DHHC-type containing 3 186 Golgi membrane|integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665) ATGATGAGGGCGTGCAAGGAA 0.527000 17 26 0 0 1 0 0 KANK4 163782 broad.mit.edu 37 1 62739953 62739953 + Missense_Mutation SNP C C T TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr1:62739953C>T ENST00000371153.4 - 3 1201 c.823G>A c.(823-825)Gtg>Atg p.V275M KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 275 Pro-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 GTGAACAACACCTCTGCTTCT 0.537000 14 13 0 0 1 0 0 CLEC12B 387837 broad.mit.edu 37 12 10165410 10165410 + Missense_Mutation SNP C C G TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr12:10165410C>G ENST00000396502.1 + 2 246 c.118C>G c.(118-120)Cgt>Ggt p.R40G CLEC12B_ENST00000338896.5_Missense_Mutation_p.R40G|CLEC1B_ENST00000428126.2_Intron NM_205852.2 NP_995324.2 Q2HXU8 CL12B_HUMAN C-type lectin domain family 12, member B 40 integral to membrane|plasma membrane receptor activity|sugar binding central_nervous_system(2)|large_intestine(2)|lung(5) 9 TCCCATTTGGCGTCATGCTGC 0.463000 3 58 0 0 1 0 0 TAGAP 117289 broad.mit.edu 37 6 159457333 159457333 + Silent SNP G G A TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr6:159457333G>A ENST00000367066.3 - 10 2053 c.1722C>T c.(1720-1722)caC>caT p.H574H RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Silent_p.H396H|RP1-111C20.4_ENST00000606466.1_RNA NM_054114.3 NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 574 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CCGAGAGGGCGTGGGGTCTCA 0.612000 6 98 0 0 1 0 0 ATP6V1G3 127124 broad.mit.edu 37 1 198509705 198509705 + Missense_Mutation SNP T T C TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr1:198509705T>C ENST00000309309.7 - 2 181 c.76A>G c.(76-78)Aag>Gag p.K26E ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.K26E|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.K26E|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.K26E|ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.K26E NM_133326.1 NP_579872.1 Q96LB4 VATG3_HUMAN ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 26 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex ATPase binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 7 TTACTCTTCTTGGCTTCCTCT 0.493000 30 45 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25451163 25451163 + Missense_Mutation SNP C C T TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr13:25451163C>T ENST00000255324.5 + 34 4664 c.4612C>T c.(4612-4614)Cgg>Tgg p.R1538W RNF17_ENST00000339524.3_Missense_Mutation_p.R548W|RNF17_ENST00000381921.1_Missense_Mutation_p.R1496W NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1538 Tudor 4. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TCATCTTATGCGGTATCCAGC 0.403000 23 50 0 0 1 0 0 SLC6A4 6532 broad.mit.edu 37 17 28537613 28537613 + Missense_Mutation SNP C C T TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr17:28537613C>T ENST00000401766.2 - 10 1881 c.1369G>A c.(1369-1371)Gtc>Atc p.V457I SLC6A4_ENST00000261707.3_Missense_Mutation_p.V457I P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 457 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity p.V457I(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) TTGGCCCAGACGTGTGGGAAC 0.597000 4 63 0 0 1 0 0 GIF 2694 broad.mit.edu 37 11 59604797 59604797 + Missense_Mutation SNP T T C TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr11:59604797T>C ENST00000541311.1 - 6 880 c.646A>G c.(646-648)Aaa>Gaa p.K216E GIF_ENST00000257248.2_Missense_Mutation_p.K241E P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 241 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 17 CATTCCTTTTTAGATGGCTCA 0.438000 13 23 0 0 1 0 0 C15orf27 123591 broad.mit.edu 37 15 76449044 76449044 + Missense_Mutation SNP A A G TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr15:76449044A>G ENST00000388942.3 + 4 603 c.327A>G c.(325-327)atA>atG p.I109M NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 109 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 CCTGTGTAATATTGGTGGTGA 0.448000 28 49 0 0 1 0 0 CD36 948 broad.mit.edu 37 7 80302135 80302135 + Missense_Mutation SNP T T C TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr7:80302135T>C ENST00000435819.1 + 15 1859 c.1175T>C c.(1174-1176)tTg>tCg p.L392S CD36_ENST00000534394.1_Missense_Mutation_p.L316S|CD36_ENST00000544133.1_3'UTR|CD36_ENST00000433696.2_Missense_Mutation_p.L353S|CD36_ENST00000394788.3_Missense_Mutation_p.L392S|CD36_ENST00000309881.7_Missense_Mutation_p.L392S|CD36_ENST00000447544.2_Missense_Mutation_p.L392S|CD36_ENST00000538969.1_Missense_Mutation_p.L332S|CD36_ENST00000432207.1_Missense_Mutation_p.L392S P16671 CD36_HUMAN CD36 molecule (thrombospondin receptor) 392 cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation integral to plasma membrane|membrane fraction|platelet alpha granule membrane lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1) 21 GTCAACCTATTGGTCAAGCCA 0.303000 9 50 0 0 1 0 0 FAM193A 8603 broad.mit.edu 37 4 2691417 2691417 + Missense_Mutation SNP C C T TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr4:2691417C>T ENST00000324666.5 + 12 1994 c.1643C>T c.(1642-1644)cCa>cTa p.P548L FAM193A_ENST00000502458.1_Missense_Mutation_p.P570L|FAM193A_ENST00000545951.1_Missense_Mutation_p.P548L|FAM193A_ENST00000505311.1_Missense_Mutation_p.P548L|FAM193A_ENST00000382839.3_Missense_Mutation_p.P548L NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 548 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 ACTTTCTTGCCAGATACAATT 0.383000 4 50 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc 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 3 23 0 0 1 0 0 ST14 6768 broad.mit.edu 37 11 130058057 130058057 + Missense_Mutation SNP G G A rs142893442 TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr11:130058057G>A ENST00000278742.5 + 2 548 c.130G>A c.(130-132)Gtc>Atc p.V44I NM_021978.3 NP_068813.1 Q9Y5Y6 ST14_HUMAN suppression of tumorigenicity 14 (colon carcinoma) 44 proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) AGTCAACAACGTCAAGAAGGT 0.622000 9 13 0 0 1 0 0 CCT6B 10693 broad.mit.edu 37 17 33258005 33258005 + Silent SNP G G T TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr17:33258005G>T ENST00000314144.5 - 12 1528 c.1413C>A c.(1411-1413)gtC>gtA p.V471V CCT6B_ENST00000436961.3_Silent_p.V426V|CCT6B_ENST00000421975.3_Silent_p.V434V NM_006584.3 NP_006575.2 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B (zeta 2) 471 chaperone-mediated protein complex assembly|protein folding|spermatogenesis cytoplasm ATP binding|protein transporter activity|unfolded protein binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 20 Ovarian(249;0.17) GTTTTGACTCGACATGCTCAG 0.333000 31 56 2.95478e-19 3.0861e-19 1 1 0 BCOR 54880 broad.mit.edu 37 X 39913577 39913577 + Missense_Mutation SNP T T C TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chrX:39913577T>C ENST00000342274.4 - 13 5011 c.4649A>G c.(4648-4650)aAt>aGt p.N1550S BCOR_ENST00000378463.1_Missense_Mutation_p.N427S|BCOR_ENST00000378455.4_Missense_Mutation_p.N1532S|BCOR_ENST00000397354.3_Missense_Mutation_p.N1550S|BCOR_ENST00000378444.4_Missense_Mutation_p.N1584S NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 1584 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 CTGGAGGTCATTTAAATAATC 0.423000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 9 3 0 0 1 0 0 CCNB3 85417 broad.mit.edu 37 X 50085216 50085216 + Missense_Mutation SNP A A C TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chrX:50085216A>C ENST00000376042.1 + 9 3830 c.3532A>C c.(3532-3534)Acc>Ccc p.T1178P CCNB3_ENST00000376038.1_Missense_Mutation_p.T74P|CCNB3_ENST00000276014.7_Missense_Mutation_p.T1178P|CCNB3_ENST00000348603.2_Missense_Mutation_p.T74P Q8WWL7 CCNB3_HUMAN cyclin B3 1178 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) CTTTGAGATGACCCATGAGAC 0.493000 5 58 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G C rs121913499 TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr2:209113113G>C ENST00000415913.1 - 4 775 c.394C>G c.(394-396)Cgt>Ggt p.R132G IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G 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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 26 43 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(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) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 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) 22 7 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23887583 23887583 + Silent SNP C C T rs144465613 byFrequency TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr14:23887583C>T ENST00000355349.3 - 30 4167 c.4005G>A c.(4003-4005)tcG>tcA p.S1335S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335S(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCCGGGCCGACTGCAGTG 0.662000 4 47 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167162338 167162338 + Missense_Mutation SNP G G A TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr2:167162338G>A ENST00000375387.4 - 5 903 c.563C>T c.(562-564)cCg>cTg p.P188L SCN9A_ENST00000409435.1_Missense_Mutation_p.P187L|SCN9A_ENST00000409672.1_Missense_Mutation_p.P187L|SCN9A_ENST00000303354.6_Missense_Mutation_p.P188L Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 187 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CCAGTTCCACGGGTCACGAAG 0.383000 7 70 0 0 1 0 0 MAPK4 5596 broad.mit.edu 37 18 48252529 48252529 + Missense_Mutation SNP G G A TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr18:48252529G>A ENST00000400384.2 + 5 2087 c.1051G>A c.(1051-1053)Gac>Aac p.D351N MAPK4_ENST00000540640.1_Missense_Mutation_p.D140N|MAPK4_ENST00000592595.1_Intron NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 351 cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) GTCCAACTGGGACACGTGCAG 0.587000 8 24 0 0 1 0 0 FSCN3 29999 broad.mit.edu 37 7 127235774 127235774 + Silent SNP T T C TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr7:127235774T>C ENST00000265825.5 + 2 777 c.558T>C c.(556-558)gaT>gaC p.D186D FSCN3_ENST00000420086.2_Silent_p.D52D NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 186 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 ATTTCCGAGATGGATGCTACC 0.577000 23 85 0 0 1 0 0 SLC33A1 9197 broad.mit.edu 37 3 155546108 155546108 + Missense_Mutation SNP G G C TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr3:155546108G>C ENST00000392845.2 - 6 1921 c.1541C>G c.(1540-1542)tCc>tGc p.S514C SLC33A1_ENST00000359479.3_Missense_Mutation_p.S514C NM_004733.3 NP_004724.1 O00400 ACATN_HUMAN solute carrier family 33 (acetyl-CoA transporter), member 1 514 cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 22 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) ACAAATAATGGACTCCACATA 0.348000 24 28 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 3 50 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803646 142803646 + RNA SNP G G A TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr1:142803646G>A ENST00000423385.1 - 0 1319 gttgtattctgggctagacat 0.299000 6 34 0 0 1 0 0 KRTAP12-4 386684 broad.mit.edu 37 21 46074320 46074320 + Missense_Mutation SNP C C G TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr21:46074320C>G ENST00000391618.1 - 1 256 c.212G>C c.(211-213)tGt>tCt p.C71S TSPEAR_ENST00000323084.4_Intron NM_198698.1 NP_941971.1 P60329 KR124_HUMAN keratin associated protein 12-4 71 15 X 5 AA approximate repeats. keratin filament lung(4)|ovary(1)|prostate(1) 6 CACAGGCACACAGCAGGCCAC 0.647000 13 29 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117717388 117717388 + Silent SNP T T C TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr6:117717388T>C ENST00000368508.3 - 8 1017 c.819A>G c.(817-819)ccA>ccG p.P273P GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.P282P NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 273 Fibronectin type-III 2. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) ATTCTGCTTCTGGACCCTCAC 0.438000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 5 102 0 0 1 0 0 CLDN16 10686 broad.mit.edu 37 3 190126225 190126225 + Missense_Mutation SNP G G A rs104893721 TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr3:190126225G>A ENST00000264734.2 + 4 963 c.715G>A c.(715-717)Gga>Aga p.G239R CLDN16_ENST00000456423.1_Intron NM_006580.3 NP_006571.1 Q9Y5I7 CLD16_HUMAN claudin 16 239 G -> R (in HOMG3). calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1) 19 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) CTGTTGGCTCGGAATGGCTGG 0.383000 46 55 0 0 1 0 0 SCNN1A 0 broad.mit.edu 37 12 6483848 6483848 + Silent SNP T T C TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr12:6483848T>C ENST00000358945.3 - 1 542 c.102A>G c.(100-102)gaA>gaG p.E34E SCNN1A_ENST00000543768.1_Silent_p.E57E|SCNN1A_ENST00000396966.2_Silent_p.E34E|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000228916.2_Silent_p.E34E|SCNN1A_ENST00000360168.3_Silent_p.E93E P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 34 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) GCGCCGCAGGTTCGGGGCCCA 0.642000 6 35 0 0 1 0 0 PSMB10 5699 broad.mit.edu 37 16 67968568 67968568 + Silent SNP G G A TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr16:67968568G>A ENST00000358514.4 - 8 1054 c.717C>T c.(715-717)ggC>ggT p.G239G CTC-479C5.12_ENST00000573493.1_3'UTR NM_002801.3 NP_002792.1 P40306 PSB10_HUMAN proteasome (prosome, macropain) subunit, beta type, 10 239 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity p.G239G(2) NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119) AGTGGTAGCGGCCAGACCTGG 0.597000 3 75 0 0 1 0 0 PSMC1 5700 broad.mit.edu 37 14 90722942 90722942 + Translation_Start_Site SNP A A G TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr14:90722942A>G ENST00000261303.8 + 1 104 c.1A>G c.(1-3)Atg>Gtg p.M1V PSMC1_ENST00000543772.2_5'UTR NM_002802.2 NP_002793.2 P62191 PRS4_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 1 1 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding endometrium(2)|kidney(2)|upper_aerodigestive_tract(2) 6 all_cancers(154;0.142) COAD - Colon adenocarcinoma(157;0.21) CCAAGGCAAGATGGTGAGTGA 0.622000 9 5 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 3078916 3078916 + Missense_Mutation SNP C C A TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr3:3078916C>A ENST00000397461.1 + 17 2380 c.1996C>A c.(1996-1998)Cct>Act p.P666T CNTN4_ENST00000427331.1_Missense_Mutation_p.P666T|CNTN4_ENST00000358480.3_Missense_Mutation_p.P447T|CNTN4_ENST00000397459.2_Missense_Mutation_p.P338T|CNTN4_ENST00000448906.2_Missense_Mutation_p.P338T|CNTN4_ENST00000418658.1_Missense_Mutation_p.P666T NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 666 Fibronectin type-III 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) GGGTTTGAACCCTTGGGTTGA 0.507000 98 123 6.42612e-47 6.86427e-47 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr16:90161902A>G ENST00000564451.1 + 0 1255 TUBB8P7_ENST00000567960.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 4 18 0 0 1 0 0 USP3 9960 broad.mit.edu 37 15 63855173 63855173 + Translation_Start_Site SNP T T G TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr15:63855173T>G ENST00000539772.1 + 0 255 USP3_ENST00000540797.1_Missense_Mutation_p.F199V|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000380324.3_Missense_Mutation_p.F243V|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000559711.1_Missense_Mutation_p.F154V|USP3_ENST00000536001.1_3'UTR|USP3_ENST00000268049.7_Missense_Mutation_p.F221V|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.F226V Q9Y6I4 UBP3_HUMAN ubiquitin specific peptidase 3 DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process nuclear chromatin histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(3)|large_intestine(7)|lung(4) 14 GBM - Glioblastoma multiforme(80;0.0187) AGAGTCCTTATTTTATGTTGT 0.343000 32 57 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55581623 55581623 + Missense_Mutation SNP G G C TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr10:55581623G>C ENST00000361849.3 - 34 6263 c.5869C>G c.(5869-5871)Ctg>Gtg p.L1957V PCDH15_ENST00000395430.1_Missense_Mutation_p.L1952V|PCDH15_ENST00000437009.1_Missense_Mutation_p.L1886V|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.L1955V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Missense_Mutation_p.L1932V|PCDH15_ENST00000373957.3_Missense_Mutation_p.L809V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.L1915V NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1955 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CAACATTACAGTGAAGTAGAT 0.338000 HNSCC(58;0.16) 35 53 0 0 1 0 0 ZNF202 7753 broad.mit.edu 37 11 123598184 123598184 + Splice_Site SNP C C G TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr11:123598184C>G ENST00000336139.4 - 7 1314 c.952_splice c.e7+1 p.G318_splice ZNF202_ENST00000530393.1_Splice_Site_p.G318_splice|ZNF202_ENST00000529691.1_Splice_Site_p.G318_splice O95125 ZN202_HUMAN zinc finger protein 202 318 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) CATTCCTCACCTGTGTAGGTA 0.512000 4 50 0 0 1 0 0 VPS18 57617 broad.mit.edu 37 15 41191832 41191832 + Missense_Mutation SNP C C G TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr15:41191832C>G ENST00000220509.5 + 4 1155 c.816C>G c.(814-816)ttC>ttG p.F272L VPS18_ENST00000558474.1_Intron NM_020857.2 NP_065908.1 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 homolog (S. cerevisiae) 272 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) AGTTGGCCTTCTACACCCCCA 0.622000 32 38 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89725053 89725053 + Missense_Mutation SNP T T C TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr10:89725053T>C ENST00000371953.3 + 9 2393 c.1036T>C c.(1036-1038)Tac>Cac p.Y346H NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 346 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GGTGAAGCTGTACTTCACAAA 0.323000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 9 18 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14797510 14797510 + Missense_Mutation SNP T T G TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr9:14797510T>G ENST00000380881.4 - 22 4643 c.3828A>C c.(3826-3828)aaA>aaC p.K1276N FREM1_ENST00000380880.3_Missense_Mutation_p.K1275N|FREM1_ENST00000422223.2_Missense_Mutation_p.K1275N Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1275 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TCAGCATTGGTTTTTCATCAT 0.378000 15 34 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120491682 120491683 + Frame_Shift_Del DEL TT TT - TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr1:120491682_120491683delTT ENST00000256646.2 - 16 2765_2766 c.2546_2547delAA c.(2545-2547)afs p.K849fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 849 EGF-like 22. anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TTGGTGACTCTTTGCAAACAGC 0.426 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome OREG0013733 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 95 --- --- --- --- CGN 57530 broad.mit.edu 37 1 151499471 151499473 + In_Frame_Del DEL AGA AGA - TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr1:151499471_151499473delAGA ENST00000271636.7 + 10 1917_1919 c.1784_1786delAGA c.(1783-1788)gag>g p.EK595del NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 589 Glu-rich. myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) CTGCGAATGGAGAAGGAGGAGAT 0.527 18 35 --- --- --- --- SH3D19 152503 broad.mit.edu 37 4 152053505 152053506 + Frame_Shift_Del DEL TC TC - TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr4:152053505_152053506delTC ENST00000409598.4 - 17 3046_3047 c.1879_1880delGA c.(1879-1881)afs p.E627fs SH3D19_ENST00000427414.2_Frame_Shift_Del_p.E591fs|SH3D19_ENST00000424281.1_Frame_Shift_Del_p.E591fs|SH3D19_ENST00000409252.2_Frame_Shift_Del_p.E650fs|SH3D19_ENST00000304527.4_Frame_Shift_Del_p.E650fs|SH3D19_ENST00000514152.1_Frame_Shift_Del_p.E627fs|SH3D19_ENST00000455740.1_Frame_Shift_Del_p.E627fs Q5HYK7 SH319_HUMAN SH3 domain containing 19 650 SH3 3. cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1) 20 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) GCCAGAATCTTCTTTTTTGGTT 0.366 19 61 --- --- --- --- CTB-161M19.4 0 broad.mit.edu 37 5 118345657 118345658 + RNA INS - - A TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr5:118345657_118345658insA ENST00000506486.1 - 0 292 ATCATTTTAAGAAAAGGCTGAA 0.401 2 4 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150824 65150825 + RNA INS - - G TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr7:65150824_65150825insG ENST00000430126.2 + 0 757 TCACCCCCCCCCCCGTTAAAAT 0.470 2 4 --- --- --- --- SMARCA4 6597 broad.mit.edu 37 19 11106926 11106928 + In_Frame_Del DEL AGA AGA - TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chr19:11106926_11106928delAGA ENST00000358026.2 + 10 1915_1917 c.1631_1633delAGA c.(1630-1635)cag>c p.QK544del SMARCA4_ENST00000429416.3_In_Frame_Del_p.QK544del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.QK544del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.QK544del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.QK544del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.QK544del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.QK544del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.QK544del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.QK544del NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 544 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CTCATCGACCAGAAGAAGGACAA 0.576 """F, N, Mis""" NSCLC 11 121 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76938029 76938029 + Frame_Shift_Del DEL G G - TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chrX:76938029delG ENST00000373344.5 - 9 2933 c.2719delC c.(2719-2721)gafs p.R907fs ATRX_ENST00000395603.3_Frame_Shift_Del_p.R869fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 907 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)|p.R907*(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) TTAGGAAGTCGATCTCTTAAT 0.418 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 21 136 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76939607 76939607 + Frame_Shift_Del DEL A A - TCGA-DH-A7UV-01A-12D-A34A-08 TCGA-DH-A7UV-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2f6d5d9d-1d5b-47c6-b4ca-276a6655f808 f6cf33cc-61be-4409-bf15-16edfe3e19bc g.chrX:76939607delA ENST00000373344.5 - 9 1355 c.1141delT c.(1141-1143)cafs p.S381fs ATRX_ENST00000395603.3_Frame_Shift_Del_p.S343fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 381 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) CTGATTTCTGAATTATCTGTT 0.363 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 125 44 --- --- --- ---