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 RAP1GDS1 5910 broad.mit.edu 37 4 99339851 99339851 + Missense_Mutation SNP A A C TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr4:99339851A>C ENST00000408927.3 + 10 1196 c.1083A>C c.(1081-1083)aaA>aaC p.K361N RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.K362N|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.K313N|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.K312N|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.K270N|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.K362N NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 361 binding|GTPase activator activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) TTGTAGAAAAACTTATGGATT 0.343000 T NUP98 T-ALL 19 37 0 0 1 0 0 STRIP1 85369 broad.mit.edu 37 1 110585722 110585722 + Missense_Mutation SNP G G A TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr1:110585722G>A ENST00000369795.3 + 9 920 c.898G>A c.(898-900)Ggc>Agc p.G300S STRIP1_ENST00000369796.1_Missense_Mutation_p.G205S NM_033088.2 NP_149079.2 striatin interacting protein 1 CACGCTAGGCGGCTTTGAGGA 0.572000 6 10 0 0 1 0 0 TRIM54 57159 broad.mit.edu 37 2 27505613 27505613 + Missense_Mutation SNP T T G TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr2:27505613T>G ENST00000296098.4 + 1 284 c.14T>G c.(13-15)gTg>gGg p.V5G TRIM54_ENST00000380075.2_Missense_Mutation_p.V5G NM_032546.3 NP_115935.3 Q9BYV2 TRI54_HUMAN tripartite motif containing 54 5 cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AACTTCACAGTGGGTTTCAAG 0.592000 20 103 0 0 1 0 0 FOXO4 4303 broad.mit.edu 37 X 70320668 70320668 + Silent SNP C C T TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chrX:70320668C>T ENST00000374259.3 + 2 920 c.588C>T c.(586-588)gcC>gcT p.A196A FOXO4_ENST00000341558.3_Silent_p.A141A NM_001170931.1|NM_005938.3 NP_001164402.1|NP_005929.2 P98177 FOXO4_HUMAN forkhead box O4 196 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) gccgggccgccTCCATGGATA 0.622000 OREG0019856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 12 0 0 1 0 0 NEU2 4759 broad.mit.edu 37 2 233899291 233899291 + Missense_Mutation SNP G G A TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr2:233899291G>A ENST00000233840.3 + 2 667 c.667G>A c.(667-669)Gaa>Aaa p.E223K NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) 223 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) CCAGGTGGCCGAAGTCGAGAC 0.652000 10 41 0 0 1 0 0 MGAT4A 11320 broad.mit.edu 37 2 99279513 99279513 + Missense_Mutation SNP C C T TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr2:99279513C>T ENST00000393487.1 - 5 846 c.533G>A c.(532-534)gGa>gAa p.G178E MGAT4A_ENST00000264968.2_Missense_Mutation_p.G178E|MGAT4A_ENST00000414521.2_Missense_Mutation_p.G50E|MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000409391.1_Missense_Mutation_p.G178E NM_012214.2 NP_036346.1 Q9UM21 MGT4A_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A 178 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 19 AATTACCTCTCCTATGAAGAC 0.294000 50 58 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133495949 133495949 + Silent SNP G G A TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr3:133495949G>A ENST00000402696.3 + 16 2414 c.1929G>A c.(1927-1929)tcG>tcA p.S643S TF_ENST00000264998.3_Silent_p.S516S NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 643 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) TGTTCCGGTCGGAAACCAAGG 0.433000 7 49 0 0 1 0 0 GGT7 2686 broad.mit.edu 37 20 33439994 33439994 + Nonsense_Mutation SNP C C T TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr20:33439994C>T ENST00000336431.5 - 12 1595 c.1551G>A c.(1549-1551)tgG>tgA p.W517* GGT7_ENST00000469018.1_5'UTR NM_178026.2 NP_821158.2 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 517 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 TCCGGTTGGGCCAGGAGAAGT 0.617000 8 21 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625905 29625905 + Missense_Mutation SNP T T C rs137871677 by1000genomes TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr20:29625905T>C ENST00000278882.3 + 5 529 c.149T>C c.(148-150)cTt>cCt p.L50P FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P p.L50P(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGAAAATATCTTGGTATAAAT 0.333000 5 111 0 0 1 0 0 FOXS1 2307 broad.mit.edu 37 20 30432875 30432875 + Silent SNP C C T TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr20:30432875C>T ENST00000375978.3 - 1 545 c.471G>A c.(469-471)gaG>gaA p.E157E NM_004118.3 NP_004109.1 O43638 FOXS1_HUMAN forkhead box S1 157 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA 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 kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 9 GATCTGGCAGCTCTGGTGGGA 0.687000 6 19 0 0 1 0 0 KLHDC9 126823 broad.mit.edu 37 1 161070000 161070000 + Silent SNP C C T TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr1:161070000C>T ENST00000368011.4 + 4 1178 c.1036C>T c.(1036-1038)Ctg>Ttg p.L346L KLHDC9_ENST00000392192.2_3'UTR|KLHDC9_ENST00000490724.2_3'UTR NM_152366.4 NP_689579.3 Q8NEP7 KLDC9_HUMAN kelch domain containing 9 346 lung(5)|upper_aerodigestive_tract(1) 6 all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GGTTTGCATCCTGGACTTTAT 0.473000 52 70 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12904513 12904513 + Missense_Mutation SNP C C T TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chrX:12904513C>T ENST00000380659.3 + 3 1025 c.886C>T c.(886-888)Cgt>Tgt p.R296C NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 296 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) AAAAGTTTTACGTCTACACAG 0.418000 68 59 0 0 1 0 0 TRBV4-1 0 broad.mit.edu 37 7 142013368 142013368 + RNA SNP A A G TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr7:142013368A>G ENST00000390357.3 + 0 252 GAAACTCTCTATAAATGAAAG 0.478000 29 183 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25783779 25783779 + Missense_Mutation SNP C C A rs143611966 by1000genomes TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr17:25783779C>A ENST00000319524.6 + 1 110 c.110C>A c.(109-111)gCg>gAg p.A37E KSR1_ENST00000509603.2_Missense_Mutation_p.A37E Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 35 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.A37E(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) GCCAGCCGGGCGCTGCAGCAG 0.741000 3 7 6.4e-05 6.4e-05 1 1 0 SIRPB2 284759 broad.mit.edu 37 20 1460549 1460549 + Missense_Mutation SNP C C T TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr20:1460549C>T ENST00000359801.3 - 2 283 c.247G>A c.(247-249)Gaa>Aaa p.E83K SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000381630.1_Intron|SIRPB2_ENST00000537284.1_Intron NM_001122962.1 NP_001116434.1 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 83 Ig-like V-type 1. integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TTATAAATTTCCTGTTGGTCC 0.463000 8 93 0 0 1 0 0 GZMA 3001 broad.mit.edu 37 5 54403737 54403737 + Missense_Mutation SNP C C T rs150441571 byFrequency TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr5:54403737C>T ENST00000274306.6 + 3 366 c.331C>T c.(331-333)Cgc>Tgc p.R111C NM_006144.3 NP_006135.1 P12544 GRAA_HUMAN granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) 111 Peptidase S1. cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 25 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) CCCAGCCACACGCGAAGGTGA 0.443000 11 92 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87968469 87968469 + Missense_Mutation SNP A A T TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr6:87968469A>T ENST00000369577.3 + 8 5165 c.5122A>T c.(5122-5124)Acc>Tcc p.T1708S ZNF292_ENST00000339907.4_Missense_Mutation_p.T1703S NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1708 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) GAATTTCAAAACCAGTCTTGA 0.328000 3 24 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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 28 42 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058322 11058322 + RNA SNP C C T TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr21:11058322C>T ENST00000470054.1 - 0 325 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) AAATGCACATCGCTGAAAGGG 0.383000 9 224 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144816613 144816613 + Missense_Mutation SNP T T C TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr1:144816613T>C ENST00000440491.2 + 5 746 c.746T>C c.(745-747)gTc>gCc p.V249A NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.V249A|NBPF9_ENST00000281815.8_5'UTR NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 GAAGACAAAGTCGACTCAACT 0.443000 84 152 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15870007 15870007 + Missense_Mutation SNP G G A TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr16:15870007G>A ENST00000338282.6 - 8 923 c.817C>T c.(817-819)Cgc>Tgc p.R273C MYH11_ENST00000576790.1_Missense_Mutation_p.R273C|MYH11_ENST00000396324.3_Missense_Mutation_p.R280C|MYH11_ENST00000452625.2_Missense_Mutation_p.R280C|MYH11_ENST00000300036.5_Missense_Mutation_p.R273C NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 273 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CTGGCTTGGCGAATTGCCCGT 0.488000 T CBFB AML 14 209 0 0 1 0 0 HCK 3055 broad.mit.edu 37 20 30676404 30676404 + Missense_Mutation SNP G G A TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr20:30676404G>A ENST00000534862.1 + 11 1352 c.989G>A c.(988-990)gGc>gAc p.G330D HCK_ENST00000520553.1_Missense_Mutation_p.G329D|HCK_ENST00000518730.1_Missense_Mutation_p.G328D|HCK_ENST00000538448.1_Missense_Mutation_p.G329D|HCK_ENST00000375862.2_Missense_Mutation_p.G349D|HCK_ENST00000375852.2_Missense_Mutation_p.G350D NM_001172132.1 NP_001165603.1 P08631 HCK_HUMAN hemopoietic cell kinase 350 Protein kinase. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) AGTGATGAGGGCAGCAAGCAG 0.438000 14 35 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196738409 196738409 + Missense_Mutation SNP C C T TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr2:196738409C>T ENST00000312428.6 - 39 6396 c.6296G>A c.(6295-6297)cGa>cAa p.R2099Q NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2099 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TACTGGATTTCGACCACCACC 0.274000 9 29 0 0 1 0 0 KBTBD8 84541 broad.mit.edu 37 3 67054666 67054666 + Silent SNP C C T TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr3:67054666C>T ENST00000295568.4 + 3 1328 c.1197C>T c.(1195-1197)tgC>tgT p.C399C KBTBD8_ENST00000417314.2_Silent_p.C425C|KBTBD8_ENST00000460576.1_Intron NM_032505.2 NP_115894.2 Q8NFY9 KBTB8_HUMAN kelch repeat and BTB (POZ) domain containing 8 425 breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) CGACTGTTTGCGCGATGCCAG 0.413000 6 205 0 0 1 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29907101 29907101 + Missense_Mutation SNP C C G TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr16:29907101C>G ENST00000308713.5 - 4 1119 c.592G>C c.(592-594)Ggg>Cgg p.G198R SEZ6L2_ENST00000562159.1_Intron|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.G154R|SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.G128R NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 198 CUB 1. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCCAGGAGCCCCAGGGTGCGG 0.547000 26 41 0 0 1 0 0 GUSBP1 0 broad.mit.edu 37 5 21497235 21497235 + RNA SNP C C T rs141635554 by1000genomes TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr5:21497235C>T ENST00000607545.1 + 0 179 NR_027026.1 AGTTTGAGAACTGGTGTAAGA 0.488000 4 25 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37174929 37174929 + Missense_Mutation SNP G G T TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr20:37174929G>T ENST00000262879.6 + 19 3042 c.2758G>T c.(2758-2760)Gcc>Tcc p.A920S RALGAPB_ENST00000397042.3_Missense_Mutation_p.A916S|RALGAPB_ENST00000397040.1_Missense_Mutation_p.A920S|RALGAPB_ENST00000397038.1_Missense_Mutation_p.A698S Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 920 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TAGTGGTCCTGCCTCTCCTTG 0.418000 18 80 3.32936e-07 3.38881e-07 1 1 0 TP53 7157 broad.mit.edu 37 17 7578400 7578400 + Missense_Mutation SNP G G C TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr17:7578400G>C ENST00000420246.2 - 5 662 c.530C>G c.(529-531)cCc>cGc p.P177R TP53_ENST00000455263.2_Missense_Mutation_p.P177R|TP53_ENST00000445888.2_Missense_Mutation_p.P177R|TP53_ENST00000269305.4_Missense_Mutation_p.P177R|TP53_ENST00000413465.2_Missense_Mutation_p.P177R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.P177R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 177 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; 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.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(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) CTCATGGTGGGGGCAGCGCCT 0.647000 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) 26 12 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 56 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4165239 4165239 + Missense_Mutation SNP C C T TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr16:4165239C>T ENST00000294016.3 - 2 743 c.205G>A c.(205-207)Ggc>Agc p.G69S NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 69 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|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CGGCCTCCGCCGCCCACTCGC 0.672000 4 22 0 0 1 0 0 ZNF366 0 broad.mit.edu 37 5 71756905 71756905 + Missense_Mutation SNP C C T TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr5:71756905C>T ENST00000318442.5 - 2 909 c.419G>A c.(418-420)cGc>cAc p.R140H NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 140 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R140H(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) TTCCAGGCTGCGGTAGAATTG 0.632000 54 88 0 0 1 0 0 OPN1MW2 728458 broad.mit.edu 37 X 153496081 153496081 + Missense_Mutation SNP T T G TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chrX:153496081T>G ENST00000369929.4 + 5 869 c.809T>G c.(808-810)gTg>gGg p.V270G OPN1MW2_ENST00000488220.1_3'UTR NM_001048181.2 NP_001041646.1 opsin 1 (cone pigments), medium-wave-sensitive 2 haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1) 6 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACGCGCATGGTGGTGGTGATG 0.572000 17 21 0 0 1 0 0 SH2D3A 10045 broad.mit.edu 37 19 6754940 6754940 + Missense_Mutation SNP G G A TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr19:6754940G>A ENST00000245908.6 - 5 1152 c.883C>T c.(883-885)Cgg>Tgg p.R295W SH2D3A_ENST00000437152.3_Missense_Mutation_p.R173W NM_005490.2 NP_005481.2 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 295 JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1) 24 TCCAGGGGCCGATTCTGGGGG 0.592000 27 136 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132549242 132549242 + Silent SNP A A G TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr12:132549242A>G ENST00000333577.4 + 49 8581 c.8472A>G c.(8470-8472)aaA>aaG p.K2824K EP400_ENST00000330386.6_Silent_p.K2707K|EP400_ENST00000332482.4_Silent_p.K2751K|EP400_ENST00000389562.2_Silent_p.K2787K|EP400_ENST00000389561.2_Silent_p.K2788K Q96L91 EP400_HUMAN E1A binding protein p400 2824 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) AGAAGCAGAAACTGCAGATGC 0.542000 9 78 0 0 1 0 0 PABPC4 8761 broad.mit.edu 37 1 40027846 40027846 + Missense_Mutation SNP T T C rs141368472 TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr1:40027846T>C ENST00000372857.3 - 14 2536 c.1744A>G c.(1744-1746)Atg>Gtg p.M582V PABPC4_ENST00000372858.3_Missense_Mutation_p.M598V|PABPC4_ENST00000372862.3_Missense_Mutation_p.M553V|PABPC4_ENST00000372856.3_Missense_Mutation_p.M569V NM_003819.3 NP_003810.1 Q13310 PABP4_HUMAN poly(A) binding protein, cytoplasmic 4 (inducible form) 582 PABC. blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding p.M582V(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TTTGAATGCATTGTTTGGATG 0.473000 25 35 0 0 1 0 0 DNAH12 201625 broad.mit.edu 37 3 57489762 57489762 + Missense_Mutation SNP C C T TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr3:57489762C>T ENST00000351747.2 - 9 1247 c.1067G>A c.(1066-1068)cGa>cAa p.R356Q DNAH12_ENST00000389536.4_Missense_Mutation_p.R356Q|DNAH12_ENST00000311202.6_Missense_Mutation_p.R356Q NM_178504.4 NP_848599.3 Q6ZR08 DYH12_HUMAN dynein, axonemal, heavy chain 12 356 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 TTCGGCTATTCGTTCCACCAA 0.338000 22 33 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48372074 48372074 + Splice_Site SNP C C T TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr12:48372074C>T ENST00000380518.3 - 43 3167 c.3003_splice c.e43+1 p.S1001_splice COL2A1_ENST00000337299.6_Splice_Site_p.S932_splice|COL2A1_ENST00000493991.1_5'UTR NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 1001 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CCACACTCACCGACGGGCCAG 0.642000 6 20 0 0 1 0 0 DFFA 1676 broad.mit.edu 37 1 10523191 10523191 + Missense_Mutation SNP G G A rs142954972 byFrequency TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr1:10523191G>A ENST00000377038.3 - 5 774 c.707C>T c.(706-708)gCg>gTg p.A236V DFFA_ENST00000377036.2_Missense_Mutation_p.A236V NM_004401.2 NP_004392.1 O00273 DFFA_HUMAN DNA fragmentation factor, 45kDa, alpha polypeptide 236 DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis cytosol|mitochondrion|nucleoplasm|plasma membrane deoxyribonuclease activity|identical protein binding large_intestine(3)|lung(2) 5 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) GCTCGCCAGCGCAACGTCCGA 0.562000 3 30 0 0 1 0 0 AUTS2 26053 broad.mit.edu 37 7 69364410 69364410 + Missense_Mutation SNP T T G TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr7:69364410T>G ENST00000342771.4 + 2 769 c.448T>G c.(448-450)Tca>Gca p.S150A AUTS2_ENST00000406775.2_Missense_Mutation_p.S150A|AUTS2_ENST00000403018.2_Missense_Mutation_p.S150A NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 150 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CCACTACAGCTCAGATCGAGA 0.512000 48 96 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144992998 144992998 + Missense_Mutation SNP T T C TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr8:144992998T>C ENST00000322810.4 - 32 11571 c.11402A>G c.(11401-11403)aAc>aGc p.N3801S PLEC_ENST00000436759.2_Missense_Mutation_p.N3691S|PLEC_ENST00000354589.3_Missense_Mutation_p.N3664S|PLEC_ENST00000398774.2_Missense_Mutation_p.N3632S|PLEC_ENST00000354958.2_Missense_Mutation_p.N3642S|PLEC_ENST00000527096.1_Missense_Mutation_p.N3687S|PLEC_ENST00000345136.3_Missense_Mutation_p.N3664S|PLEC_ENST00000357649.2_Missense_Mutation_p.N3668S|PLEC_ENST00000356346.3_Missense_Mutation_p.N3650S NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3801 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CCGGAGCAGGTTGTAGGTCTC 0.657000 4 53 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11716615 11716615 + Silent SNP A A G TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr2:11716615A>G ENST00000381486.2 + 5 891 c.591A>G c.(589-591)gcA>gcG p.A197A GREB1_ENST00000234142.5_Silent_p.A197A|GREB1_ENST00000263834.5_Silent_p.A197A|GREB1_ENST00000389825.3_Silent_p.A87A|GREB1_ENST00000381483.2_Silent_p.A197A NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 197 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TCCGTAATGCACAAGGGACTC 0.488000 30 65 0 0 1 0 0 ANO3 63982 broad.mit.edu 37 11 26569051 26569051 + Missense_Mutation SNP T T C TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr11:26569051T>C ENST00000256737.3 + 12 2095 c.1243T>C c.(1243-1245)Tgc>Cgc p.C415R ANO3_ENST00000531568.1_Missense_Mutation_p.C269R|ANO3_ENST00000525139.1_Missense_Mutation_p.C399R|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000537978.1_Missense_Mutation_p.C399R NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 415 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 TGTTGGTTTGTGCGTTTTCTT 0.368000 29 172 0 0 1 0 0 OTUD6A 139562 broad.mit.edu 37 X 69282578 69282578 + Silent SNP C C T TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chrX:69282578C>T ENST00000338352.2 + 1 238 c.204C>T c.(202-204)gaC>gaT p.D68D NM_207320.1 NP_997203.1 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 68 autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 AGTTCCAAGACGACAGTAGCA 0.547000 3 17 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23886878 23886878 + Missense_Mutation SNP C C T TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr14:23886878C>T ENST00000355349.3 - 31 4349 c.4187G>A c.(4186-4188)cGg>cAg p.R1396Q NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1396 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 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) TTCCTGCAGCCGCTGGGCCAG 0.587000 8 33 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6128017 6128017 + Missense_Mutation SNP C C T TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr12:6128017C>T ENST00000261405.5 - 28 4821 c.4567G>A c.(4567-4569)Gag>Aag p.E1523K NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 1523 VWFA 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) TGAATCACCTCCTCCATGAAC 0.557000 6 29 0 0 1 0 0 H3F3A 3020 broad.mit.edu 37 1 226252070 226252070 + Silent SNP G G A TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr1:226252070G>A ENST00000366814.3 + 2 139 c.18G>A c.(16-18)caG>caA p.Q6Q H3F3A_ENST00000366816.1_Silent_p.Q6Q|H3F3A_ENST00000366815.3_Silent_p.Q6Q|H3F3A_ENST00000366813.1_Silent_p.Q6Q H3 histone, family 3A central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 123 Breast(184;0.179) GBM - Glioblastoma multiforme(131;0.203) GTACAAAGCAGACTGCCCGCA 0.488000 Mis glioma OREG0014293 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 28 0 0 1 0 0 IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr1:46184897_46184898delAC ENST00000396478.3 - 6 1265_1266 c.1163_1164delGT c.(1162-1164)tfs p.C388fs NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 388 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TAGCCCCATAACACACACACAC 0.347 9 80 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1389382 1389382 + Frame_Shift_Del DEL C C - TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr4:1389382delC ENST00000324803.4 + 1 4043 c.1083delC c.(1081-1083)tgfs p.C361fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 361 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) ATGTGGAGTGCCCGCCTGCTC 0.667 7 253 --- --- --- --- AHI1 54806 broad.mit.edu 37 6 135784396 135784399 + Frame_Shift_Del DEL TTCT TTCT - TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr6:135784396_135784399delTTCT ENST00000367800.4 - 6 1011_1014 c.795_798delAGAA c.(793-798)aafs p.KE265fs AHI1_ENST00000327035.6_Frame_Shift_Del_p.KE265fs|AHI1_ENST00000457866.2_Frame_Shift_Del_p.KE265fs NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 265 adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) TAACTGAAGATTCTTTCTTTTGTT 0.328 11 87 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131241029 131241030 + In_Frame_Ins INS - - GGCGAC rs11277659 by1000genomes TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr7:131241029_131241030insGGCGAC ENST00000541194.1 - 1 346_347 c.89_90insGTCGCC c.(88-90)ctc>cGTCGCCtc p.29_30insRR PODXL_ENST00000537928.1_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000378555.3_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000322985.9_In_Frame_Ins_p.29_30insRR NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 29 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(2) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) CATTCTGGGAGggcgacggcga 0.752 4 8 --- --- --- --- TRBV6-8 0 broad.mit.edu 37 7 142124496 142124497 + RNA INS - - G rs72463875 TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr7:142124496_142124497insG ENST00000390376.2 - 0 49 AATCCACGCAAGGGCCCTGCCC 0.614 9 110 --- --- --- --- PRUNE2 158471 broad.mit.edu 37 9 79244208 79244208 + Splice_Site DEL T T - TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr9:79244208delT ENST00000428286.1 - 16 9177 c.e16-2 PRUNE2_ENST00000466266.2_Intron|PRUNE2_ENST00000443509.2_Splice_Site|PRUNE2_ENST00000376718.3_Splice_Site|PRUNE2_ENST00000223609.6_Splice_Site Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AATTTTGAACTAAAAAAAAAA 0.333 2 4 --- --- --- --- IDI1 3422 broad.mit.edu 37 10 1089303 1089305 + In_Frame_Del DEL AAG AAG - TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr10:1089303_1089305delAAG ENST00000381344.3 - 3 508_510 c.342_344delCTT c.(340-345)tta>tt p.FL114del IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000536039.1_RNA NM_004508.2 NP_004499.2 Q13907 IDI1_HUMAN isopentenyl-diphosphate delta isomerase 1 57 Nudix hydrolase. carotenoid biosynthetic process|cholesterol biosynthetic process cytosol|peroxisome hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding large_intestine(3)|lung(2)|prostate(1) 6 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.221) Epithelial(11;0.0972) GGTGTTGAATAAGAAGACACTAA 0.340 9 73 --- --- --- --- UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG TGG - rs2234451 byFrequency TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr11:5529918_5529920delTGG ENST00000311659.4 - 2 1016_1018 c.869_871delCCA c.(868-873)agc>a p.TS290del HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 290 T -> S (in dbSNP:rs2234451). NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGTTGGCTGGTGGTGGTGGT 0.537 8 107 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49440465 49440466 + Frame_Shift_Del DEL CA CA - TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr12:49440465_49440466delCA ENST00000301067.7 - 15 4343_4344 c.4344_4345delTG c.(4342-4347)tgatfs p.CD1448fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TAGCTAATATCACAGTCATCAC 0.584 17 67 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)del p.S1468del SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1468 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ctcctcctcttcctcctcctcct 0.552 7 169 --- --- --- --- VSX2 338917 broad.mit.edu 37 14 74727463 74727463 + Frame_Shift_Del DEL C C - TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr14:74727463delC ENST00000261980.2 + 5 1017 c.927delC c.(925-927)ctfs p.L309fs NM_182894.2 NP_878314.1 P58304 VSX2_HUMAN visual system homeobox 2 309 multicellular organismal development|response to stimulus|visual perception nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 BRCA - Breast invasive adenocarcinoma(234;0.00154) TTGCGGTGCTCCGGGCCAAAG 0.662 2 4 --- --- --- --- PI4KA 5297 broad.mit.edu 37 22 21064202 21064202 + Frame_Shift_Del DEL A A - TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chr22:21064202delA ENST00000255882.6 - 53 6253 c.6167delT c.(6166-6168)ccfs p.L2057fs PI4KA_ENST00000414196.3_Frame_Shift_Del_p.L809fs|PI4KA_ENST00000572273.1_Frame_Shift_Del_p.L1999fs NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1999 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CTACTTCAAGAGCTTGATTGT 0.552 12 37 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76937833 76937836 + Frame_Shift_Del DEL TCTT TCTT - TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa30d54d-91d2-46aa-9db1-67a4ee42a4b5 a301d972-8e21-4d68-a1ff-cd3eb830f518 g.chrX:76937833_76937836delTCTT ENST00000373344.5 - 9 3126_3129 c.2912_2915delAAGA c.(2911-2916)acfs p.KD971fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KD933fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 971 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) ATCGCTCTGGTCTTTCTTTAGGAA 0.324 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 100 129 --- --- --- ---