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 POTEH 23784 broad.mit.edu 37 22 16287731 16287731 + Missense_Mutation SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr22:16287731G>A ENST00000343518.6 - 1 206 c.155C>T c.(154-156)tCt>tTt p.S52F NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 52 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 CTTCATAGCAGAATCGTCGTG 0.612000 66 847 0 0 1 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133667435 133667435 + Silent SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr3:133667435G>A ENST00000310926.4 - 8 1323 c.1050C>T c.(1048-1050)aaC>aaT p.N350N SLCO2A1_ENST00000493729.1_Silent_p.N274N NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 350 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 CCAGGAACTTGTTGAGGAAGG 0.587000 6 225 0 0 1 0 0 IGDCC4 57722 broad.mit.edu 37 15 65684514 65684514 + Missense_Mutation SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr15:65684514G>A ENST00000352385.2 - 11 2289 c.2080C>T c.(2080-2082)Cgg>Tgg p.R694W NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 694 Fibronectin type-III 3. 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 TTCTTGAGCCGGACAGGCCCC 0.627000 3 121 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23833344 23833344 + Missense_Mutation SNP G G T TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr4:23833344G>T ENST00000264867.2 - 3 384 c.265C>A c.(265-267)Cta>Ata p.L89I PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 89 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) AGGACTGCTAGCAAGTTTGCC 0.468000 14 343 1.3612e-06 1.42308e-06 1 1 0 CRTC1 23373 broad.mit.edu 37 19 18870826 18870826 + Missense_Mutation SNP C C T TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr19:18870826C>T ENST00000338797.6 + 9 747 c.722C>T c.(721-723)cCg>cTg p.P241L CRTC1_ENST00000594658.1_Missense_Mutation_p.P184L|CRTC1_ENST00000321949.8_Missense_Mutation_p.P225L|CRTC1_ENST00000601916.1_Missense_Mutation_p.P150L NM_001098482.1 NP_001091952.1 Q6UUV9 CRTC1_HUMAN CREB regulated transcription coactivator 1 225 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 19 AGCATCTTCCCGTCTGCCGAC 0.672000 5 291 0 0 1 0 0 VIPR2 7434 broad.mit.edu 37 7 158935229 158935229 + Silent SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr7:158935229G>A ENST00000262178.2 - 2 245 c.60C>T c.(58-60)agC>agT p.S20S VIPR2_ENST00000402066.1_Silent_p.S161S|VIPR2_ENST00000421760.2_Silent_p.S20S NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 20 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) CTGGGTGAATGCTGTTCACCT 0.373000 8 123 0 0 1 0 0 NBPF18P 0 broad.mit.edu 37 1 151991151 151991151 + RNA SNP C C T TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr1:151991151C>T ENST00000432386.1 + 0 2215 NR_103561.1 GTGGTGTCTGCCAGCCCTTCA 0.488000 3 70 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23833345 23833345 + Missense_Mutation SNP C C G TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr4:23833345C>G ENST00000264867.2 - 3 383 c.264G>C c.(262-264)ttG>ttC p.L88F PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 88 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) GGACTGCTAGCAAGTTTGCCT 0.468000 14 337 0 0 1 0 0 OPA1 4976 broad.mit.edu 37 3 193375008 193375008 + Missense_Mutation SNP C C T TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr3:193375008C>T ENST00000361510.2 + 23 2552 c.2318C>T c.(2317-2319)gCg>gTg p.A773V OPA1_ENST00000392438.3_Missense_Mutation_p.A718V|OPA1_ENST00000361828.2_Missense_Mutation_p.A736V|OPA1_ENST00000361150.2_Missense_Mutation_p.A719V|OPA1_ENST00000361908.3_Missense_Mutation_p.A755V|OPA1_ENST00000361715.2_Missense_Mutation_p.A737V NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 718 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) AATGACTTTGCGGAGGACAGC 0.353000 3 124 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3230369 3230369 + Missense_Mutation SNP A A G TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr4:3230369A>G ENST00000355072.5 + 58 8021 c.7876A>G c.(7876-7878)Aac>Gac p.N2626D NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 2626 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GTGGCTGGGGAACAGCATCAC 0.642000 3 60 0 0 1 0 0 DUS2L 0 broad.mit.edu 37 16 68100529 68100529 + Missense_Mutation SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr16:68100529G>A ENST00000565263.1 + 10 1038 c.544G>A c.(544-546)Gtt>Att p.V182I DUS2L_ENST00000358896.6_Missense_Mutation_p.V182I|DUS2L_ENST00000432752.1_Missense_Mutation_p.V147I NM_017803.3 NP_060273.1 Q9NX74 DUS2L_HUMAN 182 tRNA processing endoplasmic reticulum double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564) TGCCATCGCAGTTCATGGGAG 0.522000 8 272 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 77 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1269764 1269764 + Missense_Mutation SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr11:1269764G>A ENST00000447027.1 + 31 11721 c.11663G>A c.(11662-11664)cGc>cAc p.R3888H MUC5B_ENST00000529681.1_Missense_Mutation_p.R3885H|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3885 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GGGACGGCACGCACGCCTCCA 0.652000 4 198 0 0 1 0 0 XRCC5 7520 broad.mit.edu 37 2 216990723 216990723 + Missense_Mutation SNP A A G TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr2:216990723A>G ENST00000392133.3 + 9 1228 c.767A>G c.(766-768)aAt>aGt p.N256S XRCC5_ENST00000392132.2_Missense_Mutation_p.N256S P13010 XRCC5_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) 256 Ku. double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) ATTGGCTCCAATTTGTCTATA 0.388000 Non-homologous end-joining 4 111 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 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) 88 140 0 0 1 0 0 PRMT1 0 broad.mit.edu 37 19 50180555 50180555 + Silent SNP C C G TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr19:50180555C>G ENST00000391851.4 + 1 147 c.18C>G c.(16-18)gcC>gcG p.A6A PRMT1_ENST00000532489.1_Intron|PRMT1_ENST00000454376.2_Silent_p.A6A NM_198318.4 NP_938074.2 Q8WUW5 Q8WUW5_HUMAN protein arginine methyltransferase 1 5 cytoplasm protein methyltransferase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2) 12 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012) CAGCCGAGGCCGCGAACTGCA 0.667000 23 37 0 0 1 0 0 DGKE 8526 broad.mit.edu 37 17 54926136 54926136 + Missense_Mutation SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr17:54926136G>A ENST00000284061.3 + 6 1148 c.968G>A c.(967-969)gGt>gAt p.G323D NM_003647.2 NP_003638.1 P52429 DGKE_HUMAN diacylglycerol kinase, epsilon 64kDa 323 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 Breast(9;3.59e-07) TTGGGTTGGGGTACAGGTTAT 0.413000 3 137 0 0 1 0 0 TMCC1 23023 broad.mit.edu 37 3 129370592 129370592 + Missense_Mutation SNP T T A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr3:129370592T>A ENST00000393238.3 - 6 2034 c.1694A>T c.(1693-1695)cAg>cTg p.Q565L TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 565 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 CTGCTGCTGCTGCAGCTCCAT 0.572000 3 151 0 0 1 0 0 GALNT8 26290 broad.mit.edu 37 12 4873152 4873152 + Missense_Mutation SNP A A T TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr12:4873152A>T ENST00000252318.2 + 9 1869 c.1532A>T c.(1531-1533)gAt>gTt p.D511V NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 511 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 GTCTGCTTGGATCAGGGACCC 0.502000 9 109 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72147128 72147128 + Missense_Mutation SNP A A C TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr13:72147128A>C ENST00000305425.4 - 4 1571 c.1149T>G c.(1147-1149)ttT>ttG p.F383L DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.F435L|DACH1_ENST00000313174.7_Intron NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 433 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) GCATCATCATAAAAGGAAGTT 0.398000 35 31 0 0 1 0 0 ANKRD13D 338692 broad.mit.edu 37 11 67069034 67069034 + Missense_Mutation SNP G G A rs141392969 TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr11:67069034G>A ENST00000447274.2 + 13 2338 c.1163G>A c.(1162-1164)cGc>cAc p.R388H ANKRD13D_ENST00000504236.1_3'UTR|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R388H|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.R125H|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R388H|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R475H Q6ZTN6 AN13D_HUMAN ankyrin repeat domain 13 family, member D 388 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GGCATGGAGCGCAACGAGCCC 0.662000 3 131 0 0 1 0 0 GIGYF1 64599 broad.mit.edu 37 7 100284337 100284337 + Missense_Mutation SNP T T C TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr7:100284337T>C ENST00000275732.5 - 7 1838 c.629A>G c.(628-630)gAg>gGg p.E210G GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 210 Poly-Glu. p.E210delE(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CCAGCTGCcctcctcctcctc 0.701000 3 63 0 0 1 0 0 PUM2 23369 broad.mit.edu 37 2 20478389 20478389 + Missense_Mutation SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr2:20478389G>A ENST00000361078.2 - 12 1934 c.1912C>T c.(1912-1914)Ccg>Tcg p.P638S PUM2_ENST00000319801.5_Intron|PUM2_ENST00000338086.5_Missense_Mutation_p.P638S|PUM2_ENST00000403432.1_Missense_Mutation_p.P638S|PUM2_ENST00000536417.1_Missense_Mutation_p.P582S Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 638 Ser-rich. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTGATGGCGGTGGCGTAAGT 0.413000 3 75 0 0 1 0 0 GGT1 2678 broad.mit.edu 37 22 25024063 25024063 + Missense_Mutation SNP C C T TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr22:25024063C>T ENST00000400382.1 + 14 2107 c.1352C>T c.(1351-1353)tCg>tTg p.S451L GGT1_ENST00000404532.1_Missense_Mutation_p.S107L|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400383.1_Missense_Mutation_p.S451L|GGT1_ENST00000401885.1_Missense_Mutation_p.S107L|GGT1_ENST00000248923.4_Missense_Mutation_p.S451L|GGT1_ENST00000404920.1_Missense_Mutation_p.S107L|GGT1_ENST00000404223.1_Missense_Mutation_p.S107L|GGT1_ENST00000403838.1_Missense_Mutation_p.S107L|GGT1_ENST00000400380.1_Missense_Mutation_p.S451L|GGT1_ENST00000406383.2_Missense_Mutation_p.S451L P19440 GGT1_HUMAN gamma-glutamyltransferase 1 451 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) CAGCCGCTCTCGTCCATGTGC 0.692000 3 127 0 0 1 0 0 ELAVL1 1994 broad.mit.edu 37 19 8028430 8028430 + Silent SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr19:8028430G>A ENST00000407627.2 - 6 1047 c.918C>T c.(916-918)aaC>aaT p.N306N ELAVL1_ENST00000596459.1_Silent_p.N306N|ELAVL1_ENST00000351593.5_Silent_p.N333N NM_001419.2 NP_001410.2 Q15717 ELAV1_HUMAN ELAV like RNA binding protein 1 306 RRM 3. 3'-UTR-mediated mRNA stabilization|multicellular organismal development cytoplasm|nucleoplasm identical protein binding|mRNA binding|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 GGCGGTAGCCGTTCAGGCTGG 0.453000 3 106 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 4 32 0 0 1 0 0 SDC3 9672 broad.mit.edu 37 1 31349713 31349713 + Missense_Mutation SNP C C T TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr1:31349713C>T ENST00000336798.7 - 1 1874 c.382G>A c.(382-384)Gcc>Acc p.A128T SDC3_ENST00000471567.1_5'UTR|SDC3_ENST00000339394.6_Missense_Mutation_p.A186T O75056 SDC3_HUMAN syndecan 3 186 Ser/Thr-rich (mucin-like). integral to membrane cytoskeletal protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649) CTGGGGGTGGCGGTGGCCACT 0.637000 16 24 0 0 1 0 0 KIAA1432 57589 broad.mit.edu 37 9 5754856 5754856 + Missense_Mutation SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr9:5754856G>A ENST00000414202.2 + 15 1809 c.1618G>A c.(1618-1620)Gtg>Atg p.V540M KIAA1432_ENST00000381532.2_Missense_Mutation_p.V461M|KIAA1432_ENST00000418622.3_Missense_Mutation_p.V461M|KIAA1432_ENST00000251879.6_Missense_Mutation_p.V540M|KIAA1432_ENST00000449720.2_Missense_Mutation_p.V424M NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 540 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) AAATATGATCGTGACAGGTGG 0.299000 3 84 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20000569 20000569 + Missense_Mutation SNP G G T TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr13:20000569G>T ENST00000400230.2 - 18 1435 c.1391C>A c.(1390-1392)tCt>tAt p.S464Y TPTE2_ENST00000382975.4_Missense_Mutation_p.S424Y|TPTE2_ENST00000457266.2_Missense_Mutation_p.S353Y|TPTE2_ENST00000390680.2_Missense_Mutation_p.S387Y|TPTE2_ENST00000255310.6_Missense_Mutation_p.S387Y|TPTE2_ENST00000382978.1_Missense_Mutation_p.S424Y|TPTE2_ENST00000382977.4_Missense_Mutation_p.S464Y|TPTE2_ENST00000400103.2_Missense_Mutation_p.S353Y Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 464 C2 tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACTCACCGAAGAGAAAAACTG 0.363000 6 149 0.00010058 0.000102815 1 1 0 DERL1 79139 broad.mit.edu 37 8 124033740 124033740 + Splice_Site SNP C C T TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr8:124033740C>T ENST00000259512.4 - 6 754 c.e6-1 DERL1_ENST00000523036.1_Splice_Site|DERL1_ENST00000519018.1_Splice_Site|DERL1_ENST00000405944.3_Splice_Site|DERL1_ENST00000419562.2_Splice_Site|RP11-557C18.3_ENST00000521258.1_RNA NM_001134671.1|NM_024295.4 NP_001128143.1|NP_077271.1 Q9BUN8 DERL1_HUMAN derlin 1 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol integral to endoplasmic reticulum membrane MHC class I protein binding|receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 8 Lung NSC(37;1.06e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) AATAGCAGGCCTAGGATGGAA 0.413000 3 142 0 0 1 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580552 40580552 + Missense_Mutation SNP T T G TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr19:40580552T>G ENST00000450241.2 - 6 2006 c.1695A>C c.(1693-1695)caA>caC p.Q565H ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H O75290 Z780A_HUMAN zinc finger protein 780A 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTCGAATAAGTTGCATATGAA 0.403000 4 147 0 0 1 0 0 MPP2 4355 broad.mit.edu 37 17 41960323 41960323 + Missense_Mutation SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr17:41960323G>A ENST00000269095.4 - 5 705 c.401C>T c.(400-402)cCt>cTt p.P134L MPP2_ENST00000461854.1_Missense_Mutation_p.P158L|MPP2_ENST00000377184.3_Missense_Mutation_p.P151L|MPP2_ENST00000536246.1_Missense_Mutation_p.P123L|MPP2_ENST00000523501.1_Missense_Mutation_p.P123L|MPP2_ENST00000520305.1_5'UTR|MPP2_ENST00000518766.1_Missense_Mutation_p.P179L|MPP2_ENST00000473246.1_5'UTR NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365.3 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 158 L27 2. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) AGCATCGGGAGGTACAGGCTG 0.632000 4 278 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57559912 57559912 + Missense_Mutation SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr12:57559912G>A ENST00000243077.3 + 17 3183 c.2717G>A c.(2716-2718)cGg>cAg p.R906Q NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 906 LDL-receptor class A 4. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GAGAACAACCGGTGCATCCCC 0.597000 3 118 0 0 1 0 0 SPECC1 92521 broad.mit.edu 37 17 20107857 20107857 + Silent SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr17:20107857G>A ENST00000395530.2 + 2 460 c.252G>A c.(250-252)gcG>gcA p.A84A SPECC1_ENST00000395529.3_Silent_p.A165A|SPECC1_ENST00000395522.2_Silent_p.A84A|SPECC1_ENST00000395527.4_Silent_p.A165A|SPECC1_ENST00000395525.3_Silent_p.A84A|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Silent_p.A165A|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000472876.1_Intron NM_001033555.2 NP_001028727.1 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 165 nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) AAAAGGCTGCGCTTGAGTCCC 0.458000 3 101 0 0 1 0 0 MFSD7 84179 broad.mit.edu 37 4 675823 675823 + Missense_Mutation SNP C C T TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr4:675823C>T ENST00000322224.4 - 10 1917 c.1604G>A c.(1603-1605)gGc>gAc p.G535D MFSD7_ENST00000503156.1_3'UTR|MFSD7_ENST00000515118.1_Missense_Mutation_p.G439D|MFSD7_ENST00000347950.5_Missense_Mutation_p.G417D|MFSD7_ENST00000404286.2_Missense_Mutation_p.G536D Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 7 536 transmembrane transport integral to membrane cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 11 TTGGACCCTGCCTGCGAGTCT 0.692000 3 27 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160240182 160240182 + Silent SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr2:160240182G>A ENST00000392783.2 - 24 4191 c.3696C>T c.(3694-3696)gaC>gaT p.D1232D BAZ2B_ENST00000392782.1_Silent_p.D1196D|BAZ2B_ENST00000355831.2_Silent_p.D1198D|BAZ2B_ENST00000343439.5_Silent_p.D1132D NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1232 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 CAATGTTCTTGTCGATTTCAC 0.289000 13 16 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66191839 66191839 + Missense_Mutation SNP C C T TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr11:66191839C>T ENST00000311034.2 + 7 1654 c.1478C>T c.(1477-1479)tCg>tTg p.S493L NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 493 transcription, DNA-dependent DNA binding|signal transducer activity p.S493L(1) breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 ACTGAAACCTCGGTCAGAAGC 0.577000 16 499 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR 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 5 52 0 0 1 0 0 TNPO3 23534 broad.mit.edu 37 7 128610259 128610259 + Frame_Shift_Del DEL G G - TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr7:128610259delG ENST00000393245.1 - 20 3016 c.2643delC c.(2641-2643)ccfs p.P881fs TNPO3_ENST00000471234.1_Frame_Shift_Del_p.P783fs|TNPO3_ENST00000471166.1_Frame_Shift_Del_p.P881fs|TNPO3_ENST00000482320.1_Frame_Shift_Del_p.P781fs|TNPO3_ENST00000265388.5_Frame_Shift_Del_p.P847fs NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 847 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 GTAGGGTATAGGGGGGGAGGC 0.483 7 433 --- --- --- --- NR4A3 0 broad.mit.edu 37 9 102590616 102590618 + In_Frame_Del DEL CAC CAC - TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr9:102590616_102590618delCAC ENST00000330847.1 + 2 369_371 c.325_327delCAC c.(325-327)del p.H119del NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 108 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) ccatcaccatcaccaccaccacc 0.616 T EWSR1 extraskeletal myxoid chondrosarcoma 10 64 --- --- --- --- CTR9 9646 broad.mit.edu 37 11 10789616 10789620 + Splice_Site DEL TATAG TATAG - TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr11:10789616_10789620delTATAG ENST00000361367.2 + 15 2298 c.e15-1 NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) CACTTGTTTCTATAGGAAAAGCGTC 0.380 27 59 --- --- --- --- IRX3 79191 broad.mit.edu 37 16 54318498 54318498 + Frame_Shift_Del DEL G G - TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr16:54318498delG ENST00000329734.3 - 2 2007 c.1295delC c.(1294-1296)ctfs p.P433fs NM_024336.2 NP_077312.2 P78415 IRX3_HUMAN iroquois homeobox 3 433 Pro-rich. multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1) 14 CAGGTGCGGAGGGGCAGAGCC 0.751 2 4 --- --- --- ---