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 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 6 146 0 0 1 0 0 TMC3 342125 broad.mit.edu 37 15 81627158 81627158 + Missense_Mutation SNP C C T TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr15:81627158C>T ENST00000558726.1 - 21 2500 c.2365G>A c.(2365-2367)Gca>Aca p.A789T RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.A788T|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 788 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 ATGGACTGTGCGACTGTCTCT 0.607000 10 41 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149054 34149054 + Missense_Mutation SNP G G A TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chrX:34149054G>A ENST00000346193.3 - 1 1393 c.1342C>T c.(1342-1344)Cgg>Tgg p.R448W NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 448 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TTCTTCACCCGGGCCTCACAA 0.562000 17 23 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152275810 152275810 + Missense_Mutation SNP G G A rs150496930 TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr1:152275810G>A ENST00000368799.1 - 3 11587 c.11552C>T c.(11551-11553)gCg>gTg p.A3851V FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3851 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGGACCCCGCTGATTCACC 0.602000 Ichthyosis 4 275 0 0 1 0 0 VTCN1 79679 broad.mit.edu 37 1 117699297 117699297 + Missense_Mutation SNP A A G TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr1:117699297A>G ENST00000369458.3 - 3 422 c.344T>C c.(343-345)tTg>tCg p.L115S VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000359008.4_Missense_Mutation_p.L118S|VTCN1_ENST00000539893.1_Missense_Mutation_p.L20S|VTCN1_ENST00000328189.3_Intron NM_024626.3 NP_078902.2 Q7Z7D3 VTCN1_HUMAN V-set domain containing T cell activation inhibitor 1 115 Ig-like V-type 1. integral to membrane|plasma membrane large_intestine(7)|lung(4)|upper_aerodigestive_tract(1) 12 Lung SC(450;0.225) all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05) Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23) TTTCAGCCGCAAAGAGGCATT 0.453000 27 17 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7809881 7809881 + Silent SNP G G A TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr19:7809881G>A ENST00000315599.7 - 5 868 c.846C>T c.(844-846)acC>acT p.T282T CD209_ENST00000204801.8_Silent_p.T238T|CD209_ENST00000394161.5_Intron|CD209_ENST00000593660.1_Silent_p.T212T|CD209_ENST00000601256.1_Silent_p.T258T|CD209_ENST00000315591.8_Silent_p.T258T|CD209_ENST00000593821.1_Silent_p.T146T|CD209_ENST00000602261.1_Silent_p.T190T|CD209_ENST00000601951.1_Silent_p.T258T|CD209_ENST00000301357.8_Silent_p.T146T|CD209_ENST00000354397.6_Silent_p.T282T|CD209_ENST00000394173.4_Silent_p.T121T NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 282 C-type lectin. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding p.T282T(1) endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CTTTGCAGGCGGTGATGGAGT 0.582000 3 47 0 0 1 0 0 RBBP8NL 140893 broad.mit.edu 37 20 60987732 60987732 + Silent SNP G G A TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr20:60987732G>A ENST00000252998.1 - 13 1980 c.1824C>T c.(1822-1824)caC>caT p.H608H NM_080833.2 NP_543023.2 RBBP8 N-terminal like GACCCTGCCCGTGCTCCTGGG 0.697000 33 46 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75898204 75898204 + Missense_Mutation SNP G G T TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr6:75898204G>T ENST00000322507.8 - 8 1180 c.871C>A c.(871-873)Cct>Act p.P291T COL12A1_ENST00000483888.2_Missense_Mutation_p.P291T|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.P291T NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 291 VWFA 1. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TTCAGTGAAGGTGTGGAGGCA 0.403000 15 59 3.27435e-08 3.42319e-08 1 1 0 FRG1B 0 broad.mit.edu 37 20 29625956 29625956 + Missense_Mutation SNP G G A rs147809085 TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr20:29625956G>A ENST00000278882.3 + 5 580 c.200G>A c.(199-201)aGa>aAa p.R67K FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K|FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K p.R67K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATTGGACCAAGAGAACAATGG 0.338000 4 74 0 0 1 0 0 NPHS2 7827 broad.mit.edu 37 1 179526176 179526176 + Missense_Mutation SNP C C T TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr1:179526176C>T ENST00000367615.4 - 5 792 c.724G>A c.(724-726)Gcc>Acc p.A242T NPHS2_ENST00000367616.4_Intron NM_014625.2 NP_055440.1 Q9NP85 PODO_HUMAN nephrosis 2, idiopathic, steroid-resistant (podocin) 242 excretion integral to plasma membrane protein binding NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 20 GCATCTTGGGCGATGCTCTTC 0.368000 3 48 0 0 1 0 0 SPATA31C1 0 broad.mit.edu 37 9 90535974 90535974 + RNA SNP T T C TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr9:90535974T>C ENST00000602681.1 + 0 1878 CTGGAGTAGCTTGCCCTGCGT 0.517000 39 155 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43817305 43817305 + Missense_Mutation SNP G G A TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr15:43817305G>A ENST00000382031.1 + 5 4379 c.4348G>A c.(4348-4350)Gtc>Atc p.V1450I MAP1A_ENST00000300231.5_Missense_Mutation_p.V1212I|MAP1A_ENST00000399453.1_Missense_Mutation_p.V1212I P78559 MAP1A_HUMAN microtubule-associated protein 1A 1212 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CTCCCTGGATGTCTCTTCTAA 0.527000 11 45 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 8 88 0 0 1 0 0 IL1RL2 8808 broad.mit.edu 37 2 102851427 102851427 + Silent SNP G G A TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr2:102851427G>A ENST00000264257.2 + 11 1494 c.1368G>A c.(1366-1368)tcG>tcA p.S456S IL1RL2_ENST00000539491.1_Silent_p.S456S|IL1RL2_ENST00000441515.2_Silent_p.S338S|IL1RL2_ENST00000481806.1_3'UTR NM_003854.2 NP_003845.2 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 456 TIR. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 TCCCCGAATCGCTGGGCTTTG 0.493000 4 58 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 48 30 0 0 1 0 0 DDX23 9416 broad.mit.edu 37 12 49227280 49227280 + Missense_Mutation SNP C C T TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr12:49227280C>T ENST00000308025.3 - 13 1662 c.1583G>A c.(1582-1584)cGt>cAt p.R528H NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 528 Helicase ATP-binding. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 ATCAATCAAACGCCCAGGGGT 0.498000 6 111 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30318165 30318165 + Nonsense_Mutation SNP C C T TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr21:30318165C>T ENST00000361371.4 - 21 3882 c.3732G>A c.(3730-3732)tgG>tgA p.W1244* LTN1_ENST00000389194.2_Nonsense_Mutation_p.W1290* NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 1244 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 TGATGAAGTCCCACTCACTCT 0.423000 14 32 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda 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 49 0 0 1 0 0 C11orf72 100505621 broad.mit.edu 37 11 67372458 67372458 + Missense_Mutation SNP G G A TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr11:67372458G>A ENST00000333139.3 - 3 323 c.83C>T c.(82-84)gCc>gTc p.A28V C11orf72_ENST00000446232.1_Missense_Mutation_p.A28V Q8NBR9 CK072_HUMAN chromosome 11 open reading frame 72 28 central_nervous_system(1)|lung(2)|stomach(1) 4 GAGAAGCCTGGCAAGTAGGTG 0.577000 5 10 0 0 1 0 0 MEGF6 1953 broad.mit.edu 37 1 3428675 3428675 + Missense_Mutation SNP C C T rs115175505 by1000genomes TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr1:3428675C>T ENST00000356575.4 - 8 1097 c.871G>A c.(871-873)Gca>Aca p.A291T MEGF6_ENST00000294599.4_Missense_Mutation_p.A186T NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 291 EGF-like 5; calcium-binding (Potential). extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GCCAGCCCTGCGGCACATTCG 0.652000 3 46 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68204389 68204389 + Missense_Mutation SNP A A G TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr11:68204389A>G ENST00000294304.7 + 19 4139 c.4033A>G c.(4033-4035)Agc>Ggc p.S1345G NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1345 LDL-receptor class A 3. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCGGTGTGCGAGCGGCCAGTG 0.642000 25 46 0 0 1 0 0 ZNF614 80110 broad.mit.edu 37 19 52519679 52519679 + Missense_Mutation SNP C C T rs115005123 by1000genomes TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr19:52519679C>T ENST00000270649.6 - 5 1716 c.1172G>A c.(1171-1173)cGc>cAc p.R391H ZNF614_ENST00000356322.6_Intron NM_025040.3 NP_079316.2 Q8N883 ZN614_HUMAN zinc finger protein 614 391 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TGTGTGGGAGCGCTGATGTAC 0.443000 43 100 0 0 1 0 0 KRT84 3890 broad.mit.edu 37 12 52777396 52777396 + Missense_Mutation SNP C C T TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr12:52777396C>T ENST00000257951.3 - 2 799 c.733G>A c.(733-735)Gtc>Atc p.V245I RP3-416H24.4_ENST00000547174.1_RNA NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 245 Coil 1B.|Rod. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) CCCTCTAGGACATCCTGCAGG 0.582000 23 34 0 0 1 0 0 APOBEC3F 200316 broad.mit.edu 37 22 39445579 39445579 + Missense_Mutation SNP G G A TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr22:39445579G>A ENST00000308521.5 + 5 1073 c.716G>A c.(715-717)cGa>cAa p.R239Q APOBEC3G_ENST00000452957.2_Intron NM_145298.5 NP_660341.2 Q9HC16 ABC3G_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F 243 base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2) 16 Melanoma(58;0.04) GGCGTCTTCCGAAACCAGGTA 0.512000 17 80 0 0 1 0 0 ARHGAP12 94134 broad.mit.edu 37 10 32150341 32150341 + Silent SNP T T C TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr10:32150341T>C ENST00000375250.5 - 4 1171 c.930A>G c.(928-930)caA>caG p.Q310Q ARHGAP12_ENST00000396144.4_Silent_p.Q310Q|ARHGAP12_ENST00000375245.4_Silent_p.Q310Q|ARHGAP12_ENST00000344936.2_Silent_p.Q310Q|ARHGAP12_ENST00000311380.4_Silent_p.Q310Q NM_001270696.1 NP_001257625.1 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 310 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) CCCCTGGATTTTGGAAATCTC 0.408000 14 53 0 0 1 0 0 SLC4A2 6522 broad.mit.edu 37 7 150767818 150767818 + Silent SNP C C T TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr7:150767818C>T ENST00000485713.1 + 12 2609 c.1569C>T c.(1567-1569)tgC>tgT p.C523C SLC4A2_ENST00000413384.2_Silent_p.C523C|SLC4A2_ENST00000461735.1_Silent_p.C509C|SLC4A2_ENST00000392826.2_Silent_p.C514C|SLC4A2_ENST00000310317.5_Silent_p.C441C NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 523 bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCCTAGGCTGCGTGGAGTTCC 0.667000 10 16 0 0 1 0 0 PHB2 11331 broad.mit.edu 37 12 7077605 7077605 + Missense_Mutation SNP T T C TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr12:7077605T>C ENST00000535923.1 - 4 727 c.446A>G c.(445-447)aAt>aGt p.N149S PHB2_ENST00000440277.1_Missense_Mutation_p.N149S|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000542912.1_Missense_Mutation_p.N149S|PHB2_ENST00000399433.2_Missense_Mutation_p.N149S NM_001144831.1 NP_001138303.1 Q99623 PHB2_HUMAN prohibitin 2 149 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial inner membrane|nucleus estrogen receptor binding|receptor activity ovary(2)|pancreas(1) 3 CTGTGAGGCATTGAACTTGGC 0.572000 4 13 0 0 1 0 0 SIRT5 23408 broad.mit.edu 37 6 13612077 13612077 + Nonsense_Mutation SNP G G T TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr6:13612077G>T ENST00000606117.1 + 10 1209 c.913G>T c.(913-915)Gaa>Taa p.E305* SIRT5_ENST00000397350.2_Nonsense_Mutation_p.E197*|SIRT5_ENST00000359782.3_Nonsense_Mutation_p.E287* NM_012241.4 NP_036373.1 Q9NXA8 SIRT5_HUMAN sirtuin 5 305 Deacetylase sirtuin-type. E -> G (in dbSNP:rs34162626). chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial intermembrane space|mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 11 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.176) Suramin(DB04786) TGCCTGTCATGAAAATGAAAC 0.433000 18 227 4.35082e-09 4.65436e-09 1 1 0 RORB 6096 broad.mit.edu 37 9 77280504 77280504 + Silent SNP A A G TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr9:77280504A>G ENST00000376896.2 + 7 1605 c.993A>G c.(991-993)aaA>aaG p.K331K RORB_ENST00000396204.2_Silent_p.K342K NM_006914.3 NP_008845.2 Q92753 RORB_HUMAN RAR-related orphan receptor B 342 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 AAATGTTCAAAGCCTTAGGTA 0.378000 3 31 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29999002 29999002 + Missense_Mutation SNP C C T TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr16:29999002C>T ENST00000308893.4 + 16 4452 c.3409C>T c.(3409-3411)Ccc>Tcc p.P1137S TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Missense_Mutation_p.P1024S|TAOK2_ENST00000416441.2_Missense_Mutation_p.P964S NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 1137 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 GCGGCGTAATCCCCGCACCAC 0.652000 22 138 0 0 1 0 0 NEMF 9147 broad.mit.edu 37 14 50262540 50262540 + Missense_Mutation SNP G G A TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr14:50262540G>A ENST00000298310.5 - 26 3037 c.2588C>T c.(2587-2589)gCg>gTg p.A863V NEMF_ENST00000546046.1_Missense_Mutation_p.A842V|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000382135.2_Missense_Mutation_p.A63V|NEMF_ENST00000545773.1_Missense_Mutation_p.A821V O60524 NEMF_HUMAN nuclear export mediator factor 863 cytoplasm|nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 36 CTGCACAGCCGCAACATTTTT 0.368000 3 57 0 0 1 0 0 UGT1A10 0 broad.mit.edu 37 2 234545184 234545184 + Missense_Mutation SNP T T G TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr2:234545184T>G ENST00000344644.5 + 1 85 c.16T>G c.(16-18)Tgg>Ggg p.W6G UGT1A10_ENST00000373445.1_Missense_Mutation_p.W6G|UGT1A8_ENST00000373450.4_Intron NM_019075.2 NP_061948.1 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3) 32 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) TCGCGCAGGGTGGACCAGCCC 0.567000 8 55 0 0 1 0 0 SETD4 54093 broad.mit.edu 37 21 37412909 37412909 + Missense_Mutation SNP G G T TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr21:37412909G>T ENST00000399215.1 - 8 2400 c.1028C>A c.(1027-1029)aCa>aAa p.T343K SETD4_ENST00000332131.4_Missense_Mutation_p.T343K|SETD4_ENST00000399212.1_Missense_Mutation_p.T319K|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000481477.1_5'UTR Q9NVD3 SETD4_HUMAN SET domain containing 4 343 EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898). autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 15 CTTAAGGGCTGTGAGTAGCCT 0.388000 11 168 5.50884e-06 5.63126e-06 1 1 0 POLR2A 5430 broad.mit.edu 37 17 7404927 7404927 + Missense_Mutation SNP G G A TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr17:7404927G>A ENST00000322644.6 + 14 2627 c.2228G>A c.(2227-2229)cGc>cAc p.R743H NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 743 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) CAGGTGAACCGCATTCTTAAC 0.522000 3 70 0 0 1 0 0 MLKL 197259 broad.mit.edu 37 16 74709277 74709277 + Missense_Mutation SNP C C T TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr16:74709277C>T ENST00000308807.7 - 9 1679 c.1216G>A c.(1216-1218)Gcc>Acc p.A406T MLKL_ENST00000306247.7_Silent_p.S187S NM_152649.2 NP_689862.1 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like 406 Protein kinase. ATP binding|protein binding|protein kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 TCTCCAGTGGCGATTTCCCAG 0.493000 4 79 0 0 1 0 0 OR52A5 390054 broad.mit.edu 37 11 5153260 5153260 + Missense_Mutation SNP C C T TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr11:5153260C>T ENST00000307388.1 - 1 612 c.613G>A c.(613-615)Gtt>Att p.V205I NM_001005160.2 NP_001005160.1 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, member 5 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) GCAAAGGCAACAAATAGGCCA 0.423000 38 64 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 4 71 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134072866 134072866 + Missense_Mutation SNP A A G TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr4:134072866A>G ENST00000264360.4 + 1 2397 c.1571A>G c.(1570-1572)tAc>tGc p.Y524C NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 524 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.Y524C(1) NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) GAGAACGGCTACTTGTACGCC 0.587000 6 80 0 0 1 0 0 AGAP1 116987 broad.mit.edu 37 2 236659029 236659029 + Silent SNP C C T TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr2:236659029C>T ENST00000409538.1 + 6 1861 c.1365C>T c.(1363-1365)atC>atT p.I455I AGAP1_ENST00000304032.7_Silent_p.I190I|AGAP1_ENST00000336665.5_Silent_p.I190I|AGAP1_ENST00000428334.2_Silent_p.I29I|AGAP1_ENST00000409457.1_Silent_p.I190I Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 190 PH. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CGAGGGTCATCGATGACGCCA 0.522000 16 103 0 0 1 0 0 RP11-206L10.8 0 broad.mit.edu 37 1 745371 745371 + RNA DEL A A - rs146246821 TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr1:745371delA ENST00000447500.1 - 0 95 TTTATTTCATAAGATAGCATT 0.299 4 2 --- --- --- --- CNKSR1 10256 broad.mit.edu 37 1 26511516 26511517 + Frame_Shift_Ins INS - - T TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr1:26511516_26511517insT ENST00000531191.1 + 13 1380_1381 c.373_374insT c.(373-375)gctfs p.A125fs CNKSR1_ENST00000361530.6_Frame_Shift_Ins_p.A383fs|CNKSR1_ENST00000374253.5_Frame_Shift_Ins_p.A390fs Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 390 CRIC. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) CCTGGCGACCCGGCTGAGCCGC 0.693 2 4 --- --- --- --- CTD-2547E10.2 0 broad.mit.edu 37 16 21469994 21469994 + RNA DEL A A - TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr16:21469994delA ENST00000520823.2 - 0 749 ACTGTACATTAAAAAAAAAAA 0.294 2 4 --- --- --- --- GLG1 2734 broad.mit.edu 37 16 74487225 74487225 + Frame_Shift_Del DEL G G - TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr16:74487225delG ENST00000422840.2 - 26 3379 c.3380delC c.(3379-3381)cafs p.P1127fs GLG1_ENST00000447066.2_Frame_Shift_Del_p.P1116fs|GLG1_ENST00000205061.5_Frame_Shift_Del_p.P1127fs NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 1127 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 GCCATCTGCTGGGGCCACCTA 0.468 12 23 --- --- --- --- JAK3 3718 broad.mit.edu 37 19 17941029 17941029 + Splice_Site DEL T T - TCGA-VM-A8CA-01A-11D-A36O-08 TCGA-VM-A8CA-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6799adf1-45ec-48c3-bd91-58227af39fc4 b63e7d90-775b-4bf0-ac26-60eeea646cda g.chr19:17941029delT ENST00000458235.1 - 23 3196 c.e23-2 JAK3_ENST00000527670.1_Splice_Site|JAK3_ENST00000534444.1_Splice_Site NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 CAGGAACTCCTGGAGCCAAGG 0.701 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 2 4 --- --- --- ---