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 FGG 2266 broad.mit.edu 37 4 155530846 155530846 + Missense_Mutation SNP T T A TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr4:155530846T>A ENST00000404648.3 - 6 841 c.602A>T c.(601-603)aAc>aTc p.N201I FGG_ENST00000407946.1_Missense_Mutation_p.N209I|FGG_ENST00000336098.3_Missense_Mutation_p.N201I|FGG_ENST00000405164.1_Missense_Mutation_p.N209I NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 201 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) GAATTGCTGGTTAGCTTTCAG 0.388000 42 50 0 0 1 0 0 TEKT4P2 0 broad.mit.edu 37 21 9907312 9907312 + RNA SNP G G A TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr21:9907312G>A ENST00000416067.1 - 0 1480 NR_037872.1|NR_038327.1 CACTTCTGGCGGTCGATGAAG 0.582000 8 40 0 0 1 0 0 CNOT4 4850 broad.mit.edu 37 7 135048807 135048807 + Missense_Mutation SNP A A G TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr7:135048807A>G ENST00000541284.1 - 11 1969 c.1639T>C c.(1639-1641)Tct>Cct p.S547P CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000451834.1_Missense_Mutation_p.S544P|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000473470.1_5'UTR NM_001190849.1|NM_001190850.1 NP_001177778.1|NP_001177779.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 227 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 CTCTCTACAGAACTGCTGTTG 0.388000 44 108 0 0 1 0 0 BTBD11 121551 broad.mit.edu 37 12 108012060 108012060 + Missense_Mutation SNP G G A TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr12:108012060G>A ENST00000280758.5 + 10 2885 c.2357G>A c.(2356-2358)cGc>cAc p.R786H BTBD11_ENST00000490090.2_Missense_Mutation_p.R786H|BTBD11_ENST00000357167.4_Missense_Mutation_p.R323H|BTBD11_ENST00000420571.2_Intron NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 786 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TGCGCCAGCCGCAACAGCAAG 0.597000 24 60 0 0 1 0 0 AP4B1 10717 broad.mit.edu 37 1 114442617 114442617 + Silent SNP G G A TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr1:114442617G>A ENST00000369569.1 - 5 1303 c.1023C>T c.(1021-1023)aaC>aaT p.N341N AP4B1_ENST00000256658.4_Silent_p.N341N|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Silent_p.N173N|AP4B1_ENST00000369566.3_Silent_p.N248N NM_001253852.1 NP_001240781.1 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 subunit 341 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3) 25 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CATTCTCATCGTTCACCAGTT 0.507000 5 439 0 0 1 0 0 MLST8 64223 broad.mit.edu 37 16 2258824 2258824 + Silent SNP C C T TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr16:2258824C>T ENST00000569417.1 + 9 1281 c.927C>T c.(925-927)ggC>ggT p.G309G MLST8_ENST00000565250.1_Silent_p.G309G|MLST8_ENST00000397124.1_Silent_p.G309G|MLST8_ENST00000301724.10_3'UTR|MLST8_ENST00000382450.4_Silent_p.G308G|MLST8_ENST00000301725.7_3'UTR|MLST8_ENST00000564088.1_Silent_p.G309G NM_022372.4 NP_071767.3 Q9BVC4 LST8_HUMAN MTOR associated protein, LST8 homolog (S. cerevisiae) 309 insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation cytosol protein binding large_intestine(3)|lung(2)|skin(1) 6 GAGAGTATGGCGGCCACCAGA 0.622000 5 345 0 0 1 0 0 SLFN11 91607 broad.mit.edu 37 17 33679635 33679635 + Missense_Mutation SNP C C T rs147085136 byFrequency TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr17:33679635C>T ENST00000394566.1 - 7 2718 c.2446G>A c.(2446-2448)Gca>Aca p.A816T SLFN11_ENST00000308377.4_Missense_Mutation_p.A816T NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 816 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ACTTCTTTTGCGGTGCTGACA 0.473000 4 82 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76938407 76938407 + Nonsense_Mutation SNP G G A TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chrX:76938407G>A ENST00000373344.5 - 9 2555 c.2341C>T c.(2341-2343)Cga>Tga p.R781* ATRX_ENST00000395603.3_Nonsense_Mutation_p.R743*|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 781 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) GAACTTTTTCGTTTCCTTTTT 0.338000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 43 13 0 0 1 0 0 PON1 5444 broad.mit.edu 37 7 94940783 94940783 + Silent SNP G G T TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr7:94940783G>T ENST00000222381.3 - 5 708 c.477C>A c.(475-477)atC>atA p.I159I PON1_ENST00000542556.1_Silent_p.I159I NM_000446.5 NP_000437.3 P27169 PON1_HUMAN paraoxonase 1 159 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 27 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) GTTTATGTCTGATGGTTTTTA 0.383000 31 51 5.77227e-19 6.39969e-19 1 1 0 EVL 51466 broad.mit.edu 37 14 100551166 100551166 + Missense_Mutation SNP G G A TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr14:100551166G>A ENST00000544450.2 + 2 449 c.166G>A c.(166-168)Gtt>Att p.V56I EVL_ENST00000555048.1_3'UTR|EVL_ENST00000392920.3_Missense_Mutation_p.V52I|EVL_ENST00000402714.2_Missense_Mutation_p.V50I Q9UI08 EVL_HUMAN Enah/Vasp-like 50 WH1. actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis cytoskeleton|cytosol|focal adhesion|lamellipodium actin binding|profilin binding|SH3 domain binding cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2) 14 Melanoma(154;0.152) CTTCAGAGTCGTTGGAGTCAA 0.532000 42 45 0 0 1 0 0 PA2G4 5036 broad.mit.edu 37 12 56504345 56504345 + Silent SNP C C T TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr12:56504345C>T ENST00000303305.6 + 9 1130 c.711C>T c.(709-711)gcC>gcT p.A237A PA2G4_ENST00000552766.1_Silent_p.A237A|RP11-603J24.17_ENST00000548595.1_RNA NM_006191.2 NP_006182.2 Q9UQ80 PA2G4_HUMAN proliferation-associated 2G4, 38kDa 237 cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(18;0.0739) TCTTTCAGGCCAAGGATGCAG 0.463000 32 41 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35954579 35954579 + Splice_Site SNP A A G TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr5:35954579A>G ENST00000274278.3 - 7 1654 c.1295_splice c.e7-1 p.Y433_splice NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 433 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCCGACTTGTACCTGTTGGCG 0.552000 6 45 0 0 1 0 0 GABRB2 0 broad.mit.edu 37 5 160758095 160758095 + Missense_Mutation SNP T T C TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr5:160758095T>C ENST00000274547.2 - 9 1089 c.872A>G c.(871-873)cAc>cGc p.H291R GABRB2_ENST00000517901.1_Missense_Mutation_p.H228R|GABRB2_ENST00000517547.1_Missense_Mutation_p.H131R|GABRB2_ENST00000393959.1_Missense_Mutation_p.H291R|GABRB2_ENST00000520240.1_Missense_Mutation_p.H291R|GABRB2_ENST00000353437.6_Missense_Mutation_p.H291R NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 291 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TTCCCGGAGGTGGGTGTTGAT 0.423000 18 112 0 0 1 0 0 ITGAE 3682 broad.mit.edu 37 17 3656701 3656701 + Silent SNP C C T TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr17:3656701C>T ENST00000263087.4 - 14 1649 c.1551G>A c.(1549-1551)gaG>gaA p.E517E NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 517 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) CAGGGCACAGCTCAGAGCCAA 0.582000 11 75 0 0 1 0 0 MPP7 143098 broad.mit.edu 37 10 28378749 28378749 + Missense_Mutation SNP C C T rs145943944 byFrequency TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr10:28378749C>T ENST00000337532.5 - 13 1250 c.974G>A c.(973-975)cGt>cAt p.R325H MPP7_ENST00000375732.1_Missense_Mutation_p.R325H|MPP7_ENST00000375719.3_Missense_Mutation_p.R325H|MPP7_ENST00000540098.1_Missense_Mutation_p.R325H|MPP7_ENST00000445954.2_Missense_Mutation_p.R200H NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 325 establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 TCTACTAAGACGAAAACTTTT 0.313000 10 37 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131848943 131848943 + Silent SNP G G A TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr7:131848943G>A ENST00000359827.3 - 24 5420 c.4458C>T c.(4456-4458)agC>agT p.S1486S PLXNA4_ENST00000321063.4_Silent_p.S1486S Q9HCM2 PLXA4_HUMAN plexin A4 1486 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GCTTGTCCTCGCTCAAGGAGT 0.607000 10 62 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28273113 28273113 + Missense_Mutation SNP A A T TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr15:28273113A>T ENST00000354638.3 - 4 574 c.419T>A c.(418-420)cTa>cAa p.L140Q OCA2_ENST00000382996.2_Missense_Mutation_p.L140Q|OCA2_ENST00000353809.5_Missense_Mutation_p.L140Q NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 140 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) CTCCCTGCTTAGCAGGTATCT 0.552000 Oculocutaneous Albinism 13 142 0 0 1 0 0 FES 2242 broad.mit.edu 37 15 91437242 91437242 + Silent SNP C C T TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr15:91437242C>T ENST00000328850.3 + 18 2422 c.2280C>T c.(2278-2280)ccC>ccT p.P760P FES_ENST00000450438.2_Silent_p.P632P|FES_ENST00000394300.3_Silent_p.P702P|FES_ENST00000394302.1_Silent_p.P619P|FES_ENST00000444422.2_Silent_p.P690P|FES_ENST00000414248.2_Silent_p.P632P NM_002005.3 NP_001996.1 P07332 FES_HUMAN feline sarcoma oncogene 760 Protein kinase. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GGGCCTCCCCCTATCCCAACC 0.607000 175 285 0 0 1 0 0 TEDDM1 127670 broad.mit.edu 37 1 182369470 182369470 + Missense_Mutation SNP C C T rs139831889 TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr1:182369470C>T ENST00000367565.1 - 1 281 c.151G>A c.(151-153)Ggg>Agg p.G51R NM_172000.3 NP_741997.3 Q5T9Z0 TEDM1_HUMAN transmembrane epididymal protein 1 51 integral to membrane p.G51W(1) haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2) 7 AGCACCATCCCGCCATCAAGA 0.478000 4 92 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117826102 117826102 + Missense_Mutation SNP T T A TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr9:117826102T>A ENST00000350763.4 - 12 4144 c.3733A>T c.(3733-3735)Acc>Tcc p.T1245S TNC_ENST00000423613.2_Missense_Mutation_p.T1245S|TNC_ENST00000542877.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.T1245S|TNC_ENST00000340094.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1245 Fibronectin type-III 7. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GAGAGAGGGGTTGTGCTGAAG 0.522000 20 98 0 0 1 0 0 OXSM 54995 broad.mit.edu 37 3 25833094 25833094 + Nonsense_Mutation SNP C C T rs147184138 TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr3:25833094C>T ENST00000280701.3 + 2 682 c.583C>T c.(583-585)Cga>Tga p.R195* OXSM_ENST00000449808.1_Intron|OXSM_ENST00000420173.2_Nonsense_Mutation_p.R195* NM_017897.2 NP_060367.1 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial 195 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 GGTCAGCATTCGATATAAACT 0.433000 11 68 0 0 1 0 0 ATF7IP2 80063 broad.mit.edu 37 16 10551310 10551310 + Nonsense_Mutation SNP G G T TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr16:10551310G>T ENST00000396560.2 + 7 1503 c.1276G>T c.(1276-1278)Gag>Tag p.E426* ATF7IP2_ENST00000356427.2_Nonsense_Mutation_p.E426*|ATF7IP2_ENST00000324570.5_Nonsense_Mutation_p.E426*|ATF7IP2_ENST00000396559.1_Nonsense_Mutation_p.E426*|ATF7IP2_ENST00000543967.1_Intron NM_024997.3 NP_079273.2 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting protein 2 426 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 TGTGAATTATGAGCCTTCTAA 0.323000 12 106 2.80697e-09 3.04587e-09 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d 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 18 40 0 0 1 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175080 143175080 + Missense_Mutation SNP G G T TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr7:143175080G>T ENST00000408916.1 + 1 115 c.115G>T c.(115-117)Ggc>Tgc p.G39C EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 39 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) GCTGCGATATGGCAGGTTGCT 0.562000 7 119 0.00198382 0.00206479 1 1 0 TBC1D8B 54885 broad.mit.edu 37 X 106083910 106083910 + Silent SNP T T C TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chrX:106083910T>C ENST00000357242.5 + 10 1689 c.1515T>C c.(1513-1515)aaT>aaC p.N505N TBC1D8B_ENST00000310452.2_Silent_p.N505N|TBC1D8B_ENST00000276175.3_Silent_p.N499N NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 505 Rab-GAP TBC. intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GTGCTGTTAATGACATGGCTA 0.358000 25 27 0 0 1 0 0 DCTN5 84516 broad.mit.edu 37 16 23678418 23678418 + Missense_Mutation SNP G G A TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr16:23678418G>A ENST00000300087.2 + 6 653 c.502G>A c.(502-504)Gtc>Atc p.V168I DCTN5_ENST00000563998.1_3'UTR NM_001199743.1|NM_032486.3 NP_001186672.1|NP_115875.1 Q9BTE1 DCTN5_HUMAN dynactin 5 (p25) 168 centrosome transferase activity endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 10 GBM - Glioblastoma multiforme(48;0.0156) GATGATTGACGTCACCAAGAG 0.507000 4 80 0 0 1 0 0 CBLL1 79872 broad.mit.edu 37 7 107398758 107398758 + Missense_Mutation SNP A A G TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr7:107398758A>G ENST00000440859.2 + 6 1078 c.611A>G c.(610-612)aAt>aGt p.N204S CBLL1_ENST00000415884.2_3'UTR|CBLL1_ENST00000222597.2_Missense_Mutation_p.N203S NM_024814.2 NP_079090.2 Q75N03 HAKAI_HUMAN Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase 204 cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 TCACTTGAAAATGTTCATCCT 0.468000 85 118 0 0 1 0 0 RP3-522P13.3 0 broad.mit.edu 37 6 25261508 25261508 + RNA SNP G G A TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr6:25261508G>A ENST00000413898.2 - 0 131 CTGGATATATGTTCTCTAGGC 0.403000 7 11 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28473408 28473408 + Missense_Mutation SNP T T C TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr15:28473408T>C ENST00000261609.7 - 35 5528 c.5420A>G c.(5419-5421)aAt>aGt p.N1807S NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 1807 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CATGCCGGAATTGAGCAGAAG 0.592000 6 62 0 0 1 0 0 EIF1AX 1964 broad.mit.edu 37 X 20156713 20156713 + Missense_Mutation SNP C C T TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chrX:20156713C>T ENST00000379607.5 - 2 247 c.44G>A c.(43-45)gGt>gAt p.G15D EIF1AX_ENST00000379593.1_Intron NM_001412.3 NP_001403.1 P47813 IF1AX_HUMAN eukaryotic translation initiation factor 1A, X-linked 15 cytosol translation initiation factor activity endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 CTCATTCTTACCCCTGCGTCT 0.308000 22 7 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A rs28934574 TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr17:7577094G>A ENST00000420246.2 - 8 976 c.844C>T c.(844-846)Cgg>Tgg p.R282W TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 282 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574). 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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) TCTGTGCGCCGGTCTCTCCCA 0.557000 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) 36 6 0 0 1 0 0 SPPL2C 162540 broad.mit.edu 37 17 43922533 43922533 + Silent SNP G G T TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr17:43922533G>T ENST00000329196.5 + 1 278 c.261G>T c.(259-261)cgG>cgT p.R87R MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA NM_175882.2 NP_787078.2 Q8IUH8 IMP5_HUMAN signal peptide peptidase like 2C 87 integral to membrane aspartic-type endopeptidase activity CCAGCCAGCGGCCCCTCCGCC 0.682000 13 69 0.00244969 0.00249869 1 1 0 MYO9B 4650 broad.mit.edu 37 19 17313045 17313045 + Missense_Mutation SNP A A C TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr19:17313045A>C ENST00000595618.1 + 28 4921 c.4769A>C c.(4768-4770)aAc>aCc p.N1590T MYO9B_ENST00000594824.1_Missense_Mutation_p.N1590T|MYO9B_ENST00000397274.2_Missense_Mutation_p.N1590T NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1590 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 CTGGTCCTCAACCTCTTCCAG 0.572000 3 22 0 0 1 0 0 KIAA0100 9703 broad.mit.edu 37 17 26961608 26961608 + Silent SNP A A G TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr17:26961608A>G ENST00000528896.2 - 16 3071 c.2997T>C c.(2995-2997)ccT>ccC p.P999P KIAA0100_ENST00000544884.1_Silent_p.P856P|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.P856P NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 999 extracellular region p.P999P(1) breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) CAGGGGGAAAAGGGCTGCCTG 0.493000 4 138 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 36 0 0 1 0 0 DRD5 0 broad.mit.edu 37 4 9784116 9784116 + Missense_Mutation SNP C C T TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr4:9784116C>T ENST00000304374.2 + 1 859 c.463C>T c.(463-465)Cgc>Tgc p.R155C NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 155 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GATGACTCAGCGCATGGCCTT 0.607000 5 51 0 0 1 0 0 MRPS26 64949 broad.mit.edu 37 20 3027057 3027057 + Missense_Mutation SNP A A G TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr20:3027057A>G ENST00000380325.3 + 2 375 c.251A>G c.(250-252)gAg>gGg p.E84G NM_030811.3 NP_110438.1 Q9BYN8 RT26_HUMAN mitochondrial ribosomal protein S26 84 DNA damage response, detection of DNA damage mitochondrial small ribosomal subunit kidney(1)|lung(1) 2 AAGGTGCACGAGGCCCGAGCC 0.701000 11 26 0 0 1 0 0 MDGA2 161357 broad.mit.edu 37 14 47389358 47389358 + Missense_Mutation SNP C C A TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr14:47389358C>A ENST00000426342.1 - 10 1947 c.1201G>T c.(1201-1203)Gcc>Tcc p.A401S MDGA2_ENST00000439988.2_Missense_Mutation_p.A630S|MDGA2_ENST00000399232.2_Missense_Mutation_p.A699S|MDGA2_ENST00000357362.3_Missense_Mutation_p.A401S NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 630 Ig-like 4. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 GGAGCATAGGCCTTTCCTGAA 0.368000 7 52 8.12818e-05 8.6362e-05 1 1 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 4 12 0.00909568 0.00909568 1 1 0 TAF2 6873 broad.mit.edu 37 8 120768315 120768315 + Missense_Mutation SNP T T G TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr8:120768315T>G ENST00000378164.2 - 22 3107 c.2809A>C c.(2809-2811)Act>Cct p.T937P TAF2_ENST00000519355.1_5'UTR NM_003184.3 NP_003175.1 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 937 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) ATGTTCTTAGTAAATGGTGGG 0.348000 6 57 0 0 1 0 0 GNAI1 2770 broad.mit.edu 37 7 79818476 79818476 + Missense_Mutation SNP A A G TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr7:79818476A>G ENST00000351004.3 + 3 605 c.232A>G c.(232-234)Atc>Gtc p.I78V GNAI1_ENST00000457358.2_Missense_Mutation_p.I26V|GNAI1_ENST00000490206.1_3'UTR NM_002069.5 NP_002060.4 P63096 GNAI1_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 78 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody|nucleus G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 19 CAGTAACACCATCCAGTCAAT 0.398000 6 22 0 0 1 0 0 EIF3B 8662 broad.mit.edu 37 7 2394836 2394836 + Frame_Shift_Del DEL G G - TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr7:2394836delG ENST00000360876.4 + 1 336 c.280delG c.(280-282)ggfs p.G94fs EIF3B_ENST00000397011.2_Frame_Shift_Del_p.G94fs NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 94 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) GGAGCTGCCCGGGTCGCATGC 0.786 2 4 --- --- --- --- RP11-114H24.4 0 broad.mit.edu 37 15 78234382 78234382 + RNA DEL T T - TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr15:78234382delT ENST00000568184.1 - 0 460 TGGCGGGGGGTGGGGGGTGGG 0.612 2 4 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684390 26684391 + Frame_Shift_Ins INS - - C rs148075904 by1000genomes TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d307950-3327-4ac5-95e4-5941a28fb077 dba5aeaa-a6d1-4f01-a963-e6d523f8783d g.chr17:26684390_26684391insC ENST00000540200.1 - 2 80_81 c.81_82insG c.(79-84)aacgctfs p.NA27fs POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 28 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) GCACAGAGCGGCTTTGCCACCG 0.762 15 11 --- --- --- ---