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 MLLT1 4298 broad.mit.edu 37 19 6213134 6213134 + Silent SNP G G A TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr19:6213134G>A ENST00000252674.7 - 12 1762 c.1599C>T c.(1597-1599)acC>acT p.T533T MLLT1_ENST00000585588.1_5'UTR NM_005934.3 NP_005925.2 Q03111 ENL_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 533 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2) 17 AGTCGAAGGTGGTGTTGGTGA 0.627000 T MLL AL 40 89 0 0 0.864702 0 0 POU2F1 5451 broad.mit.edu 37 1 167367336 167367336 + Missense_Mutation SNP A A G TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr1:167367336A>G ENST00000367862.5 + 11 1437 c.1202A>G c.(1201-1203)aAc>aGc p.N401S POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_Missense_Mutation_p.N389S|POU2F1_ENST00000429375.2_Missense_Mutation_p.N349S|POU2F1_ENST00000420254.3_Missense_Mutation_p.N389S|POU2F1_ENST00000367866.2_Missense_Mutation_p.N412S NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 389 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 ATAGAGACCAACATCCGTGTG 0.468000 3 69 0 0 0.115264 0 0 ZNF280C 55609 broad.mit.edu 37 X 129363020 129363020 + Missense_Mutation SNP G G A TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chrX:129363020G>A ENST00000370978.4 - 10 1231 c.1078C>T c.(1078-1080)Cgg>Tgg p.R360W NM_017666.4 NP_060136.1 Q8ND82 Z280C_HUMAN zinc finger protein 280C 360 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 GGATATTGCCGGTAACAGTGC 0.433000 4 185 0 0 0.150653 0 0 NCOA4 8031 broad.mit.edu 37 10 51579175 51579175 + Missense_Mutation SNP A A C TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr10:51579175A>C ENST00000452682.1 + 3 334 c.82A>C c.(82-84)Agt>Cgt p.S28R NCOA4_ENST00000374082.1_Missense_Mutation_p.S12R|NCOA4_ENST00000374087.4_Missense_Mutation_p.S12R|NCOA4_ENST00000498586.1_Intron|NCOA4_ENST00000430396.2_Intron|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000344348.6_Missense_Mutation_p.S12R|NCOA4_ENST00000443446.1_Missense_Mutation_p.S12R|NCOA4_ENST00000438493.1_Missense_Mutation_p.S28R NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 12 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 TGGCAGCTCCAGTAATAGAGA 0.408000 T RET papillary thyroid 8 65 0 0 0.387290 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87329812 87329812 + Missense_Mutation SNP C C T TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr7:87329812C>T ENST00000338056.3 + 4 776 c.365C>T c.(364-366)tCa>tTa p.S122L RUNDC3B_ENST00000493037.1_Missense_Mutation_p.S105L|ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.S105L NM_001134405.1|NM_138290.2 NP_001127877.1|NP_612147.1 Q96NL0 RUN3B_HUMAN RUN domain containing 3B 122 RUN. breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) CGGAAAGTTTCACAGAATTGT 0.383000 6 42 0 0 0.278610 0 0 DNHD1 144132 broad.mit.edu 37 11 6592281 6592281 + Silent SNP A A C TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr11:6592281A>C ENST00000254579.6 + 42 14103 c.13539A>C c.(13537-13539)gcA>gcC p.A4513A DNHD1_ENST00000527990.2_Silent_p.A4513A NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 4513 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TGAAGGGCGCACCCCCGTGCC 0.677000 5 32 0 0 0.539581 0 0 SHROOM3 57619 broad.mit.edu 37 4 77660025 77660025 + Silent SNP A A C TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr4:77660025A>C ENST00000296043.6 + 5 1652 c.699A>C c.(697-699)ccA>ccC p.P233P SHROOM3_ENST00000473602.1_3'UTR NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 233 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GGGCATACCCACCCTGTCATC 0.572000 5 84 0 0 0.278610 0 0 FCGR2B 2213 broad.mit.edu 37 1 161641233 161641233 + Missense_Mutation SNP T T C TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr1:161641233T>C ENST00000367962.4 + 3 312 c.185T>C c.(184-186)cTc>cCc p.L62P FCGR2B_ENST00000236937.9_Missense_Mutation_p.L62P|FCGR2B_ENST00000428605.2_Missense_Mutation_p.L62P|FCGR2B_ENST00000367961.4_Missense_Mutation_p.L55P|FCGR2B_ENST00000358671.5_Missense_Mutation_p.L62P|FCGR2B_ENST00000403078.3_Missense_Mutation_p.L62P|FCGR2B_ENST00000367960.5_Missense_Mutation_p.L55P P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor (CD32) 62 Ig-like C2-type 1. immune response|interspecies interaction between organisms|regulation of immune response integral to membrane|plasma membrane IgG binding|receptor activity all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ATCAACGTGCTCCAGGAGGAC 0.587000 T ? ALL 21 29 0 0 0.639603 0 0 MAP1B 4131 broad.mit.edu 37 5 71495163 71495163 + Missense_Mutation SNP C C T TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr5:71495163C>T ENST00000296755.7 + 5 6279 c.5981C>T c.(5980-5982)tCt>tTt p.S1994F NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1994 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TATGATGACTCTGAGGATGGT 0.483000 8 228 0 0 0.335167 0 0 WDR47 22911 broad.mit.edu 37 1 109544904 109544904 + Missense_Mutation SNP C C G TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr1:109544904C>G ENST00000357672.3 - 6 1666 c.1291G>C c.(1291-1293)Gtg>Ctg p.V431L WDR47_ENST00000369962.3_Missense_Mutation_p.V459L|WDR47_ENST00000369965.4_Missense_Mutation_p.V460L|WDR47_ENST00000361054.3_Missense_Mutation_p.V431L|WDR47_ENST00000400794.3_Missense_Mutation_p.V467L O94967 WDR47_HUMAN WD repeat domain 47 459 Gln-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) TCCTGATTCACGCCTCCTTCA 0.383000 10 128 0 0 0.335167 0 0 PLS3 5358 broad.mit.edu 37 X 114871228 114871228 + Missense_Mutation SNP G G A TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chrX:114871228G>A ENST00000420625.2 + 8 963 c.829G>A c.(829-831)Gca>Aca p.A277T PLS3_ENST00000539310.1_Missense_Mutation_p.A232T|PLS3_ENST00000537301.1_Missense_Mutation_p.A255T|PLS3_ENST00000355899.3_Missense_Mutation_p.A277T|PLS3_ENST00000289290.3_Missense_Mutation_p.A232T NM_001136025.3|NM_001172335.1 NP_001129497.1|NP_001165806.1 P13797 PLST_HUMAN plastin 3 277 Actin-binding 1.|CH 2. cytoplasm actin binding|calcium ion binding NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11) 26 GCTTAGATGGGCAAACTTTCA 0.388000 4 207 0 0 0.150653 0 0 PIWIL1 9271 broad.mit.edu 37 12 130847544 130847544 + Missense_Mutation SNP A A G TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr12:130847544A>G ENST00000245255.3 + 18 2322 c.2050A>G c.(2050-2052)Agg>Ggg p.R684G NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 684 Piwi. gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) AGCGGCTCTGAGGGCTTGGAA 0.507000 3 95 0 0 0.115264 0 0 MEF2C 4208 broad.mit.edu 37 5 88047813 88047813 + Silent SNP G G C TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr5:88047813G>C ENST00000504921.2 - 5 1122 c.450C>G c.(448-450)tcC>tcG p.S150S MEF2C_ENST00000510942.1_Silent_p.S150S|MEF2C_ENST00000437473.2_Silent_p.S150S|MEF2C_ENST00000508569.1_Silent_p.S150S|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000506554.1_Silent_p.S150S|MEF2C_ENST00000340208.5_Silent_p.S168S|MEF2C_ENST00000539796.1_Silent_p.S102S|MEF2C_ENST00000514028.1_Silent_p.S150S|MEF2C_ENST00000514015.1_Silent_p.S150S|MEF2C_ENST00000424173.2_Silent_p.S148S Q06413 MEF2C_HUMAN myocyte enhancer factor 2C 150 Ser-rich. apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 40 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) TGTTGTGGCTGGACACTGGGA 0.478000 HNSCC(66;0.2) 32 70 0 0 0.760397 0 0 FAM86A 196483 broad.mit.edu 37 16 5135699 5135699 + Silent SNP A A G TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr16:5135699A>G ENST00000427587.4 - 8 995 c.927T>C c.(925-927)cgT>cgC p.R309R ALG1_ENST00000592661.1_Intron|FAM86A_ENST00000587133.1_Silent_p.R248R|FAM86A_ENST00000458008.4_Silent_p.R275R NM_201400.2 NP_958802.1 Q96G04 FA86A_HUMAN family with sequence similarity 86, member A 309 endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 12 TCTGCTCATGACGAGGTTCCA 0.527000 3 142 0 0 0.150653 0 0 NGFRAP1 27018 broad.mit.edu 37 X 102632423 102632423 + Missense_Mutation SNP G G A TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chrX:102632423G>A ENST00000372645.3 + 3 331 c.4G>A c.(4-6)Gca>Aca p.A2T NGFRAP1_ENST00000372634.1_Intron|NGFRAP1_ENST00000372635.1_Missense_Mutation_p.A2T|NGFRAP1_ENST00000299872.7_Missense_Mutation_p.A2T|NGFRAP1_ENST00000361298.4_Intron Q00994 BEX3_HUMAN nerve growth factor receptor (TNFRSF16) associated protein 1 2 apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway cytosol|nucleus caspase regulator activity|metal ion binding NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1) 10 TCTCATCATGGCAAATATTCA 0.468000 4 190 0 0 0.184627 0 0 DGKG 1608 broad.mit.edu 37 3 186006581 186006581 + Silent SNP C C T TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr3:186006581C>T ENST00000265022.3 - 6 1001 c.462G>A c.(460-462)tcG>tcA p.S154S DGKG_ENST00000382164.4_Silent_p.S154S|DGKG_ENST00000344484.4_Silent_p.S154S|DGKG_ENST00000544847.1_Silent_p.S154S NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 154 Poly-Ser. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity p.S154S(1) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) CTGGGGATTCCGAGCTTGAAG 0.567000 4 266 0 0 0.184627 0 0 IGDCC4 57722 broad.mit.edu 37 15 65678310 65678310 + Silent SNP T T G TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr15:65678310T>G ENST00000352385.2 - 18 3248 c.3039A>C c.(3037-3039)ccA>ccC p.P1013P NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 1013 integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 CATGGGCAGCTGGGGGGCTGG 0.667000 OREG0023195 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 13 0 0 0.307466 0 0 OR3A3 8392 broad.mit.edu 37 17 3324352 3324352 + Missense_Mutation SNP A A G TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr17:3324352A>G ENST00000291231.1 + 1 491 c.491A>G c.(490-492)aAc>aGc p.N164S NM_012373.2 NP_036505.2 P47888 OR3A3_HUMAN olfactory receptor, family 3, subfamily A, member 3 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1) 9 GCCTTCACCAACGCACTGACC 0.592000 3 188 0 0 0.115264 0 0 ZFHX3 463 broad.mit.edu 37 16 72984519 72984519 + Missense_Mutation SNP C C T TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr16:72984519C>T ENST00000268489.5 - 3 3737 c.3065G>A c.(3064-3066)gGc>gAc p.G1022D ZFHX3_ENST00000397992.5_Missense_Mutation_p.G108D NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1022 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GTTGGCCTTGCCGCCCTCCTT 0.592000 3 47 0 0 0.115264 0 0 PEX19 5824 broad.mit.edu 37 1 160249975 160249975 + Missense_Mutation SNP T T C TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr1:160249975T>C ENST00000368072.5 - 6 677 c.656A>G c.(655-657)cAg>cGg p.Q219R PEX19_ENST00000440949.3_Missense_Mutation_p.Q129R|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_Missense_Mutation_p.Q72R NM_001193644.1|NM_002857.3 NP_001180573.1|NP_002848.1 peroxisomal biogenesis factor 19 cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2) 11 all_cancers(52;1.27e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GTGCTGCTCCTGATATTTTTC 0.448000 4 199 0 0 0.150653 0 0 FRMPD3 84443 broad.mit.edu 37 X 106844382 106844382 + Missense_Mutation SNP C C T TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chrX:106844382C>T ENST00000276185.4 + 16 3212 c.3212C>T c.(3211-3213)aCa>aTa p.T1071I Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 1071 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 AGAGCACCCACAGGCAGCCGG 0.527000 20 34 0 0 0.624587 0 0 GPRASP1 9737 broad.mit.edu 37 X 101912092 101912092 + Missense_Mutation SNP G G A TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chrX:101912092G>A ENST00000537097.1 + 6 4064 c.3251G>A c.(3250-3252)gGc>gAc p.G1084D GPRASP1_ENST00000444152.1_Missense_Mutation_p.G1084D|GPRASP1_ENST00000415986.1_Missense_Mutation_p.G1084D|GPRASP1_ENST00000361600.5_Missense_Mutation_p.G1084D|RP4-769N13.7_ENST00000602441.1_RNA NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 1084 OPRD1-binding. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 ATGTTTGGGGGCAAACCCAGG 0.488000 4 230 0 0 0.150653 0 0 PCDHGA10 0 broad.mit.edu 37 5 140795090 140795090 + Missense_Mutation SNP T T C TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr5:140795090T>C ENST00000398610.2 + 1 2348 c.2348T>C c.(2347-2349)cTc>cCc p.L783P PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGGACACGCTCATCAGCCAG 0.498000 3 171 0 0 0.115264 0 0 FUT9 10690 broad.mit.edu 37 6 96651640 96651640 + Silent SNP C C G TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr6:96651640C>G ENST00000302103.5 + 3 935 c.609C>G c.(607-609)gtC>gtG p.V203V NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 203 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) ATGCCAGAGTCAAGTATTACA 0.408000 15 30 0 0 0.457914 0 0 HEATR6 63897 broad.mit.edu 37 17 58120954 58120954 + Silent SNP T T C TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr17:58120954T>C ENST00000184956.6 - 20 3532 c.3516A>G c.(3514-3516)caA>caG p.Q1172Q HEATR6_ENST00000585976.1_Silent_p.Q1060Q NM_022070.4 NP_071353.4 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 1172 binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) GGAGTGCCCCTTGTGATCCAG 0.507000 3 125 0 0 0.115264 0 0 TNXB 7148 broad.mit.edu 37 6 32015637 32015637 + Missense_Mutation SNP G G A TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr6:32015637G>A ENST00000375244.3 - 30 10399 c.10198C>T c.(10198-10200)Ccg>Tcg p.P3400S TNXB_ENST00000375247.2_Missense_Mutation_p.P3398S P22105 TENX_HUMAN tenascin XB 3445 Fibronectin type-III 26. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.P3465S(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GCTGCCACCGGCACCACCTGG 0.617000 3 32 0 0 0.115264 0 0 L1TD1 54596 broad.mit.edu 37 1 62676947 62676947 + Missense_Mutation SNP G G T TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr1:62676947G>T ENST00000498273.1 + 4 2796 c.2501G>T c.(2500-2502)aGg>aTg p.R834M NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 834 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 tttgattttaggggtaaaaca 0.358000 3 25 0.004672 0.0051392 0.115264 1 0 PRSS55 203074 broad.mit.edu 37 8 10387105 10387105 + Missense_Mutation SNP G G T TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr8:10387105G>T ENST00000328655.3 + 2 283 c.243G>T c.(241-243)tgG>tgT p.W81C PRSS55_ENST00000522210.1_Missense_Mutation_p.W81C|PRSS51_ENST00000523024.1_RNA NM_198464.3 NP_940866.2 Q6UWB4 PRS55_HUMAN protease, serine, 55 81 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 AGTTTCCGTGGCAGGTGAGTA 0.522000 6 315 0.00448238 0.00503124 0.307466 1 0 ST18 9705 broad.mit.edu 37 8 53092728 53092728 + Silent SNP C C T TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr8:53092728C>T ENST00000276480.7 - 9 914 c.231G>A c.(229-231)agG>agA p.R77R NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 77 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CGTCCTCTGTCCTGTCACTGC 0.542000 36 175 0 0 0.819951 0 0 RBM14 10432 broad.mit.edu 37 11 66392698 66392698 + Missense_Mutation SNP G G A TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr11:66392698G>A ENST00000310137.4 + 2 1490 c.1351G>A c.(1351-1353)Gca>Aca p.A451T RBM14_ENST00000393979.3_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000409738.4_Intron NM_006328.3 NP_006319.1 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 451 Ala-rich. DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity RBM14/PACS1(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 AGCCTACGCCGCACAAGCCAC 0.617000 5 142 0 0 0.184627 0 0 ZBTB26 57684 broad.mit.edu 37 9 125681791 125681791 + Silent SNP T T C TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr9:125681791T>C ENST00000373656.3 - 2 496 c.423A>G c.(421-423)ccA>ccG p.P141P ZBTB26_ENST00000373654.1_Silent_p.P141P NM_020924.2 NP_065975.1 Q9HCK0 ZBT26_HUMAN zinc finger and BTB domain containing 26 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1) 11 AAGCACTCTGTGGTTCACATC 0.468000 16 83 0 0 0.479597 0 0 NUP88 4927 broad.mit.edu 37 17 5314088 5314088 + Silent SNP C C T rs148748521 by1000genomes TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr17:5314088C>T ENST00000573584.1 - 4 1124 c.615G>A c.(613-615)ccG>ccA p.P205P NM_002532.4 NP_002523.2 Q99567 NUP88_HUMAN nucleoporin 88kDa 205 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore transporter activity endometrium(4)|kidney(4)|large_intestine(4)|lung(3) 15 TGGGTGTCTGCGGCTCACGTA 0.373000 4 204 0 0 0.150653 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 47 0 0 0.150653 0 0 IGF2BP3 10643 broad.mit.edu 37 7 23387327 23387327 + Missense_Mutation SNP G G A TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr7:23387327G>A ENST00000258729.3 - 7 1066 c.710C>T c.(709-711)gCg>gTg p.A237V NM_006547.2 NP_006538.2 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding protein 3 237 KH 1. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity p.A237V(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1) 34 AGCAGCCCCCGCATTTTCTTT 0.468000 4 70 0 0 0.184627 0 0 OR8K5 219453 broad.mit.edu 37 11 55927551 55927551 + Silent SNP C C T TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr11:55927551C>T ENST00000313447.1 - 1 242 c.243G>A c.(241-243)gtG>gtA p.V81V NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) AATTTGCCAGCACCTTGGGAC 0.383000 5 70 0 0 0.217242 0 0 SAMD5 389432 broad.mit.edu 37 6 147830216 147830216 + Missense_Mutation SNP A A C TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr6:147830216A>C ENST00000367474.1 + 1 154 c.152A>C c.(151-153)cAc>cCc p.H51P NM_001030060.2 NP_001025231.1 Q5TGI4 SAMD5_HUMAN sterile alpha motif domain containing 5 51 SAM. Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112) GCGCCCGCGCACCGCCGCCGT 0.716000 7 5 0 0 0.435327 0 0 KIAA1522 57648 broad.mit.edu 37 1 33236588 33236588 + Missense_Mutation SNP C C G TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr1:33236588C>G ENST00000401073.2 + 6 1878 c.1808C>G c.(1807-1809)gCt>gGt p.A603G KIAA1522_ENST00000373480.1_Missense_Mutation_p.A544G|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.A555G NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 544 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) GGTCCCCCTGCTTCCCCAGGC 0.642000 6 66 0 0 0.248553 0 0 OR4N5 390437 broad.mit.edu 37 14 20612492 20612492 + Missense_Mutation SNP G G T rs147549956 TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr14:20612492G>T ENST00000333629.1 + 1 598 c.598G>T c.(598-600)Gtc>Ttc p.V200F NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) GCTTCTGATGGTCTCCAACAG 0.537000 7 96 0.000274275 0.000314274 0.307466 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 27 49 0 0 0.706142 0 0 MARC1 64757 broad.mit.edu 37 1 220971259 220971259 + Missense_Mutation SNP C C T rs150590210 TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr1:220971259C>T ENST00000366910.5 + 4 842 c.656C>T c.(655-657)gCg>gTg p.A219V MARC1_ENST00000496110.1_3'UTR NM_022746.3 NP_073583.3 Q5VT66 MOSC1_HUMAN mitochondrial amidoxime reducing component 1 219 MOSC. molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding CTTTCTGAGGCGTCGCTGGCG 0.438000 4 76 0 0 0.150653 0 0 IGHV4-39 0 broad.mit.edu 37 14 106877797 106877797 + RNA SNP C C T TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr14:106877797C>T ENST00000390619.2 - 0 246 TGGGGGCTGGCGGATCCAGCC 0.577000 4 115 0 0 0.150653 0 0 MYH8 4626 broad.mit.edu 37 17 10295952 10295952 + Silent SNP A A T TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr17:10295952A>T ENST00000403437.2 - 38 5569 c.5475T>A c.(5473-5475)ctT>ctA p.L1825L CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1825 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CCTCTCCTTCAAGCTCACGTA 0.463000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 7 159 0 0 0.248553 0 0 PADI6 353238 broad.mit.edu 37 1 17720687 17720687 + RNA DEL G G - rs67226027 TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr1:17720687delG ENST00000434762.2 + 0 1233 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TGGCCTCTGAGGGGGGAGGGG 0.587 8 7 --- --- --- --- RP11-782C8.1 0 broad.mit.edu 37 1 143217265 143217266 + RNA INS - - A TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr1:143217265_143217266insA ENST00000438000.1 + 0 59 GTTAGTAAAGCAAAAAAAAAAC 0.282 4 2 --- --- --- --- RYK 6259 broad.mit.edu 37 3 133928660 133928661 + Frame_Shift_Del DEL CT CT - TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr3:133928660_133928661delCT ENST00000296084.4 - 5 460_461 c.461_462delAG c.(460-462)gfs p.E154fs RYK_ENST00000427044.2_5'UTR NM_001005861.2|NM_002958.3 NP_001005861.1|NP_002949.2 P34925 RYK_HUMAN receptor-like tyrosine kinase 153 WIF. corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway cytoplasm|integral to plasma membrane|nucleus ATP binding|transmembrane receptor protein tyrosine kinase activity lung(1)|ovary(3) 4 TACAGGAAAGCTCTACCCGAAA 0.272 2 4 --- --- --- --- SNORD3D 0 broad.mit.edu 37 17 19015877 19015878 + RNA INS - - A TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr17:19015877_19015878insA ENST00000362793.1 - 0 71_72 cctcggggttttcggtgctcta 0.500 4 7 --- --- --- ---