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 FLRT2 23768 broad.mit.edu 37 14 86089505 86089505 + Silent SNP C C T rs35699071 TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr14:86089505C>T ENST00000330753.4 + 2 2414 c.1647C>T c.(1645-1647)ggC>ggT p.G549G FLRT2_ENST00000554746.1_Silent_p.G549G NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 549 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TGATCGGGGGCGCGGTGATAT 0.587000 10 109 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625961 29625961 + Missense_Mutation SNP C C A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr20:29625961C>A ENST00000278882.3 + 5 585 c.205C>A c.(205-207)Caa>Aaa p.Q69K FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K p.Q69K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACCAAGAGAACAATGGGAACC 0.333000 5 115 0.248553 0.251142 1 1 0 HIST1H1B 3009 broad.mit.edu 37 6 27835085 27835085 + Missense_Mutation SNP C C T TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr6:27835085C>T ENST00000331442.3 - 1 274 c.223G>A c.(223-225)Gac>Aac p.D75N NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 75 H15. nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 TTCTCCACGTCGTAGCCACCG 0.577000 5 217 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Silent_p.L113L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) 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) AGGAGAAGTTACGGGAAGGGA 0.527000 3 75 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178916876 178916876 + Missense_Mutation SNP G G A rs121913287 TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr3:178916876G>A ENST00000263967.3 + 2 420 c.263G>A c.(262-264)cGa>cAa p.R88Q NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 88 PI3K-ABD. R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.R88Q(53) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GAAACAAGACGACTTTGTGAC 0.363000 R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 8 84 0 0 1 0 0 OR2T33 391195 broad.mit.edu 37 1 248436184 248436184 + Missense_Mutation SNP G G T rs142308940 byFrequency TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr1:248436184G>T ENST00000318021.2 - 1 954 c.933C>A c.(931-933)caC>caA p.H311Q NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CATTTTGCTGGTGTTTTATGT 0.418000 13 183 2.31682e-05 2.67538e-05 1 1 0 HTR1A 3350 broad.mit.edu 37 5 63256914 63256914 + Missense_Mutation SNP C C A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr5:63256914C>A ENST00000323865.3 - 1 866 c.633G>T c.(631-633)atG>atT p.M211I RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 211 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) AGAGAACCAGCATGAGCAGCA 0.572000 6 139 3.59834e-05 4.10634e-05 1 1 0 COL5A2 1290 broad.mit.edu 37 2 189904098 189904098 + Silent SNP G G T TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr2:189904098G>T ENST00000374866.3 - 51 4099 c.3825C>A c.(3823-3825)ctC>ctA p.L1275L NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 1275 Fibrillar collagen NC1. axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TCTGACTACTGAGTGACTTCA 0.517000 10 55 1.58986e-06 1.88069e-06 1 1 0 FCRL1 115350 broad.mit.edu 37 1 157772202 157772202 + Missense_Mutation SNP G G A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr1:157772202G>A ENST00000358292.3 - 4 623 c.572C>T c.(571-573)cCc>cTc p.P191L FCRL1_ENST00000368176.3_Missense_Mutation_p.P191L|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.P191L NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 191 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) ACTGGGGCTGGGACCATAGCC 0.517000 15 70 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414280 20414280 + Silent SNP G G A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr9:20414280G>A ENST00000380338.4 - 5 850 c.564C>T c.(562-564)agC>agT p.S188S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) 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) TGGTActactgctgctgctgc 0.502000 T MLL ALL 4 116 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 4118581 4118581 + Missense_Mutation SNP C C G TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr9:4118581C>G ENST00000324333.10 - 3 625 c.432G>C c.(430-432)aaG>aaC p.K144N GLIS3_ENST00000381971.3_Missense_Mutation_p.K299N NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 144 Ser-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) GCGCTCTCTTCTTGGAGCGGG 0.562000 6 81 0 0 1 0 0 NOL9 79707 broad.mit.edu 37 1 6610519 6610519 + Missense_Mutation SNP C C G TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr1:6610519C>G ENST00000377705.5 - 2 585 c.553G>C c.(553-555)Gag>Cag p.E185Q NM_024654.4 NP_078930 Q5SY16 NOL9_HUMAN nucleolar protein 9 185 maturation of 5.8S rRNA nucleolus ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1) 19 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) TTGCTTTTCTCAGGCTGTGAG 0.448000 7 127 0 0 1 0 0 ZNF259 8882 broad.mit.edu 37 11 116652910 116652910 + Silent SNP C C T TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr11:116652910C>T ENST00000227322.3 - 12 1202 c.1143G>A c.(1141-1143)acG>acA p.T381T NM_003904.3 NP_003895.1 O75312 ZPR1_HUMAN zinc finger protein 259 381 cell proliferation|signal transduction cytoplasm|nucleolus breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 9 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153) GTAGTCTCTCCGTCTGTCCAG 0.463000 3 44 0 0 1 0 0 XRN2 22803 broad.mit.edu 37 20 21307031 21307031 + Missense_Mutation SNP C C G TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr20:21307031C>G ENST00000377191.3 + 2 285 c.190C>G c.(190-192)Cat>Gat p.H64D XRN2_ENST00000430571.2_Intron|XRN2_ENST00000539513.1_Missense_Mutation_p.H10D NM_012255.3 NP_036387.2 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 64 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5) 39 TCCCTGTACTCATCCTGAAGA 0.348000 5 90 0 0 1 0 0 IGHV2-5 28457 broad.mit.edu 37 14 106494299 106494299 + RNA SNP C C T TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr14:106494299C>T ENST00000390597.2 - 0 212 CACTCCAGGGCCTTTCCTGGG 0.552000 6 66 0 0 1 0 0 GSDMA 284110 broad.mit.edu 37 17 38130548 38130548 + Missense_Mutation SNP G G T TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr17:38130548G>T ENST00000301659.4 + 9 892 c.774G>T c.(772-774)agG>agT p.R258S NM_178171.4 NP_835465.2 Q96QA5 GSDMA_HUMAN gasdermin A 258 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 AAGGCTTCAGGACACTAAAAG 0.557000 3 16 0.004672 0.00503538 1 1 0 FMO2 2327 broad.mit.edu 37 1 171165877 171165877 + Missense_Mutation SNP T T A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr1:171165877T>A ENST00000441535.1 + 4 528 c.411T>A c.(409-411)agT>agA p.S137R FMO2_ENST00000209929.7_Missense_Mutation_p.S137R|FMO2_ENST00000529935.1_3'UTR NM_001460.2 NP_001451.1 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 (non-functional) 137 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGGAGCAGAGTGCTGTCTTTG 0.488000 4 87 0 0 1 0 0 C17orf85 55421 broad.mit.edu 37 17 3716490 3716490 + Missense_Mutation SNP C C T TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr17:3716490C>T ENST00000158149.3 - 14 1766 c.871G>A c.(871-873)Gag>Aag p.E291K C17orf85_ENST00000389005.4_Missense_Mutation_p.E571K Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 571 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) TCGTCTTCCTCAGCGCCAGGC 0.498000 6 121 0 0 1 0 0 NKIRAS2 28511 broad.mit.edu 37 17 40175898 40175898 + Missense_Mutation SNP C C G TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr17:40175898C>G ENST00000307641.5 + 4 1184 c.563C>G c.(562-564)tCc>tGc p.S188C NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.S186C|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.S188C|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.S226C|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.S188C|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.S188C|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.S132C NM_001001349.2 NP_001001349.1 Q9NYR9 KBRS2_HUMAN NFKB inhibitor interacting Ras-like 2 188 Small GTPase-like. I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 9 all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319) GGCAGCGGCTCCTTGGATGGC 0.582000 3 49 0 0 1 0 0 SLC1A5 6510 broad.mit.edu 37 19 47280252 47280252 + Silent SNP G G T TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr19:47280252G>T ENST00000542575.2 - 7 1996 c.1368C>A c.(1366-1368)atC>atA p.I456I SLC1A5_ENST00000412532.2_Silent_p.I228I|SLC1A5_ENST00000434726.2_Silent_p.I254I|SLC1A5_ENST00000594991.1_Silent_p.I280I NM_005628.2 NP_005619.1 Q15758 AAAT_HUMAN solute carrier family 1 (neutral amino acid transporter), member 5 456 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1) 13 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) CCACAGCCAGGATCAAGGAGA 0.617000 5 34 0.0293803 0.030318 1 1 0 CLIP1 6249 broad.mit.edu 37 12 122864955 122864955 + Silent SNP G G A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr12:122864955G>A ENST00000358808.2 - 2 199 c.45C>T c.(43-45)atC>atT p.I15I CLIP1_ENST00000361654.4_Silent_p.I15I|CLIP1_ENST00000537178.1_Silent_p.I15I|CLIP1_ENST00000540338.1_Silent_p.I15I|CLIP1_ENST00000302528.7_Silent_p.I15I NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 15 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CAGGCTTCAGGATCTTGGTGG 0.438000 6 80 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21869112 21869112 + Missense_Mutation SNP C C A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr14:21869112C>A ENST00000399982.2 - 21 4356 c.4292G>T c.(4291-4293)cGc>cTc p.R1431L CHD8_ENST00000557364.1_Missense_Mutation_p.R1431L|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.R1152L NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1431 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TCTGCGGGAGCGTGGCCGCTC 0.498000 9 52 0.307466 0.307466 1 1 0 SF3B1 23451 broad.mit.edu 37 2 198265467 198265467 + Missense_Mutation SNP A A C TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr2:198265467A>C ENST00000335508.6 - 18 2781 c.2690T>G c.(2689-2691)cTt>cGt p.L897R NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) GAAAGCATAAAGAATACCATC 0.323000 Mis myelodysplastic syndrome 3 43 0 0 1 0 0 LPPR5 163404 broad.mit.edu 37 1 99422173 99422173 + Missense_Mutation SNP C C A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr1:99422173C>A ENST00000370188.3 - 2 722 c.362G>T c.(361-363)cGa>cTa p.R121L LPPR5_ENST00000263177.4_Missense_Mutation_p.R121L NM_001010861.2 NP_001010861.1 Q32ZL2 LPPR5_HUMAN 121 integral to membrane hydrolase activity ACCAAGAAATCGGACAGTTCG 0.353000 4 20 0.00909568 0.0096954 1 1 0 MAB21L3 126868 broad.mit.edu 37 1 116675774 116675774 + Missense_Mutation SNP G G A rs150571972 TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr1:116675774G>A ENST00000369500.3 + 7 1142 c.877G>A c.(877-879)Gag>Aag p.E293K NM_152367.2 NP_689580.2 Q8N8X9 MB213_HUMAN mab-21-like 3 (C. elegans) 293 breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1) 19 TTGGACCTGCGAGAAATATCC 0.478000 4 51 0 0 1 0 0 MOCS1 4337 broad.mit.edu 37 6 39895256 39895256 + Missense_Mutation SNP G G A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr6:39895256G>A ENST00000373186.4 - 1 199 c.62C>T c.(61-63)cCt>cTt p.P21L MOCS1_ENST00000373195.3_Intron|MOCS1_ENST00000373188.2_Intron|MOCS1_ENST00000432280.2_Intron|MOCS1_ENST00000308559.7_Intron|MOCS1_ENST00000425303.2_Missense_Mutation_p.P21L|MOCS1_ENST00000373175.4_Intron|MOCS1_ENST00000340692.5_Intron NM_005943.5 NP_005934.2 Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis 1 0 Molybdenum cofactor biosynthesis protein A. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) AGAGGCACAAGGAGAACCGCC 0.622000 9 34 0 0 1 0 0 AIM1L 55057 broad.mit.edu 37 1 26655281 26655281 + Missense_Mutation SNP G G C TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr1:26655281G>C ENST00000527815.1 - 15 1825 c.1776C>G c.(1774-1776)agC>agG p.S592R AIM1L_ENST00000308182.5_Missense_Mutation_p.S421R NM_001039775.3 NP_001034864.2 Q8N1P7 AIM1L_HUMAN absent in melanoma 1-like 421 Ricin B-type lectin. sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) CGGCTTGCAGGCTCCGCACCT 0.612000 5 73 0 0 1 0 0 HTATSF1 27336 broad.mit.edu 37 X 135592283 135592283 + Nonsense_Mutation SNP G G T TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chrX:135592283G>T ENST00000535601.1 + 9 1389 c.967G>T c.(967-969)Gag>Tag p.E323* HTATSF1_ENST00000218364.4_Nonsense_Mutation_p.E323* NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 323 RRM 2. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) TCGGGATCCAGAGGAAGCTGA 0.418000 14 110 1.52009e-12 1.84311e-12 1 1 0 APLF 200558 broad.mit.edu 37 2 68729889 68729889 + Silent SNP G G A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr2:68729889G>A ENST00000303795.4 + 3 366 c.195G>A c.(193-195)caG>caA p.Q65Q NM_173545.2 NP_775816.1 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 65 FHA-like. double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 GTTTTTACCAGTCTTCAGAGA 0.284000 8 94 0 0 1 0 0 FNIP1 96459 broad.mit.edu 37 5 131007605 131007605 + Silent SNP G G A rs139857435 TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr5:131007605G>A ENST00000307968.7 - 13 2447 c.2448C>T c.(2446-2448)atC>atT p.I816I FNIP1_ENST00000510461.1_Silent_p.I844I|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Silent_p.I799I NM_001008738.2 NP_001008738 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) TCCTGGTTTCGATTGAATCAT 0.343000 4 94 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79426564 79426564 + Missense_Mutation SNP G G A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr17:79426564G>A ENST00000307745.7 + 27 5839 c.5839G>A c.(5839-5841)Ggc>Agc p.G1947S CCTCCCGCCCGGCACGCGGGT 0.687000 3 51 0 0 1 0 0 DDX19A 55308 broad.mit.edu 37 16 70398974 70398974 + Missense_Mutation SNP G G C TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr16:70398974G>C ENST00000302243.7 + 7 707 c.544G>C c.(544-546)Gag>Cag p.E182Q DDX19A_ENST00000417604.2_Missense_Mutation_p.E151Q|DDX19A_ENST00000443119.2_Missense_Mutation_p.E92Q|RP11-529K1.3_ENST00000567706.1_Intron NM_018332.3 NP_060802.1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1) 11 Ovarian(137;0.221) AAAAGTGATTGAGCAGATGGG 0.468000 6 102 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8716245 8716245 + Missense_Mutation SNP G G A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr1:8716245G>A ENST00000337907.3 - 3 746 c.112C>T c.(112-114)Cgc>Tgc p.R38C RERE_ENST00000400908.2_Missense_Mutation_p.R38C|RERE_ENST00000400907.2_Missense_Mutation_p.R38C NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 38 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CAGCTCCGGCGTGGCCTTGAA 0.502000 4 167 0 0 1 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762006 130762006 + Missense_Mutation SNP C C G TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr6:130762006C>G ENST00000392429.1 + 2 2817 c.439C>G c.(439-441)Ctt>Gtt p.L147V TMEM200A_ENST00000545622.1_Missense_Mutation_p.L147V|TMEM200A_ENST00000296978.3_Missense_Mutation_p.L147V NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 147 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) TAATGCCATTCTTCATGAAAA 0.403000 5 85 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158617418 158617418 + Missense_Mutation SNP C C A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr1:158617418C>A ENST00000368147.4 - 27 3987 c.3807G>T c.(3805-3807)gaG>gaT p.E1269D NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTTCCCAGGCCTCATTCAGCT 0.567000 6 52 0.0215528 0.0224798 1 1 0 ASXL1 171023 broad.mit.edu 37 20 31024799 31024799 + Silent SNP T T G TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr20:31024799T>G ENST00000375687.4 + 13 4708 c.4284T>G c.(4282-4284)tcT>tcG p.S1428S ASXL1_ENST00000306058.5_Silent_p.S1423S NM_015338.5 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 1428 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 TGGAGCCTTCTTCTCTCCCCT 0.517000 """F, N, Mis""" """MDS, CMML""" 5 123 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64617153 64617153 + Silent SNP T T C TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr3:64617153T>C ENST00000498707.1 - 16 2709 c.2367A>G c.(2365-2367)gaA>gaG p.E789E ADAMTS9_ENST00000295903.4_Silent_p.E761E NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 789 Spacer. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CATCGTCTGTTTCCCCTGAGA 0.468000 4 143 0 0 1 0 0 WIZ 58525 broad.mit.edu 37 19 15537969 15537969 + Missense_Mutation SNP G G A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr19:15537969G>A ENST00000389282.4 - 6 3689 c.3476C>T c.(3475-3477)aCg>aTg p.T1159M WIZ_ENST00000263381.7_Missense_Mutation_p.T302M|WIZ_ENST00000599910.2_Missense_Mutation_p.T476M|WIZ_ENST00000599686.3_Missense_Mutation_p.T343M|WIZ_ENST00000545156.1_Missense_Mutation_p.T473M O95785 WIZ_HUMAN widely interspaced zinc finger motifs 1159 Pro-rich. nucleus zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 CTTTCGGGCCGTAGGAGGAGG 0.632000 3 39 0 0 1 0 0 CDX2 1045 broad.mit.edu 37 13 28542657 28542657 + Silent SNP G G T TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr13:28542657G>T ENST00000381020.7 - 1 2619 c.487C>A c.(487-489)Cgg>Agg p.R163R NM_001265.4 NP_001256.3 Q99626 CDX2_HUMAN caudal type homeobox 2 163 organ morphogenesis|transcription from RNA polymerase II promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(1)|lung(6) 9 all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199) CACAGGTTCCGCCGCTGGCCG 0.726000 T ETV6 AML 4 16 0.000602214 0.000671434 1 1 0 LAMB4 22798 broad.mit.edu 37 7 107703305 107703305 + Missense_Mutation SNP C C G TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr7:107703305C>G ENST00000388781.3 - 23 3279 c.3196G>C c.(3196-3198)Gat>Cat p.D1066H LAMB4_ENST00000205386.4_Missense_Mutation_p.D1066H|LAMB4_ENST00000388780.3_Missense_Mutation_p.D1066H NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1066 Laminin EGF-like 11. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 CAGTATCCATCAGCACAACGG 0.557000 3 29 0 0 1 0 0 NCR2 9436 broad.mit.edu 37 6 41318501 41318501 + Missense_Mutation SNP C C T TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr6:41318501C>T ENST00000373089.5 + 5 818 c.730C>T c.(730-732)Ctt>Ttt p.L244F NCR2_ENST00000373086.3_3'UTR|NCR2_ENST00000373083.4_3'UTR NM_004828.3 NP_004819.2 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 244 cellular defense response integral to plasma membrane transmembrane receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) ggtcacggaccttccctggac 0.483000 5 39 0 0 1 0 0 FAM193A 8603 broad.mit.edu 37 4 2691313 2691313 + Silent SNP G G A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr4:2691313G>A ENST00000324666.5 + 12 1890 c.1539G>A c.(1537-1539)ccG>ccA p.P513P FAM193A_ENST00000382839.3_Silent_p.P513P|FAM193A_ENST00000502458.1_Silent_p.P535P|FAM193A_ENST00000505311.1_Silent_p.P513P|FAM193A_ENST00000545951.1_Silent_p.P513P NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 513 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 ATATTTATCCGAGCTGTTTTG 0.373000 5 82 0 0 1 0 0 TRBV10-1 28585 broad.mit.edu 37 7 142231710 142231710 + RNA SNP A A G TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr7:142231710A>G ENST00000390364.3 - 0 274 CGTGAACACCATATGAGTAAT 0.512000 19 131 0 0 1 0 0 OR51B5 282763 broad.mit.edu 37 11 5364578 5364578 + Missense_Mutation SNP G G C TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr11:5364578G>C ENST00000300773.2 - 1 231 c.177C>G c.(175-177)ttC>ttG p.F59L HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron NM_001005567.2 NP_001005567.2 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, member 5 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGCCAGAAAGAAGTACATGG 0.507000 3 29 0 0 1 0 0 SOS2 6655 broad.mit.edu 37 14 50666491 50666491 + Missense_Mutation SNP T T G TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr14:50666491T>G ENST00000216373.5 - 4 702 c.428A>C c.(427-429)aAa>aCa p.K143T SOS2_ENST00000543680.1_Missense_Mutation_p.K143T NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 143 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) ACCAGCCAATTTTAAAATATC 0.338000 8 137 0 0 1 0 0 ZNF439 90594 broad.mit.edu 37 19 11978488 11978488 + Missense_Mutation SNP C C G TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr19:11978488C>G ENST00000304030.2 + 3 804 c.604C>G c.(604-606)Caa>Gaa p.Q202E ZNF439_ENST00000455282.1_Missense_Mutation_p.Q66E|ZNF439_ENST00000592534.1_Intron NM_152262.2 NP_689475.1 Q8NDP4 ZN439_HUMAN zinc finger protein 439 202 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2) 27 TTCAAGCATTCAAAGACACAT 0.378000 8 178 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33527306 33527306 + Missense_Mutation SNP G G A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr5:33527306G>A ENST00000504830.1 - 24 5107 c.4772C>T c.(4771-4773)tCa>tTa p.S1591L ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S1506L NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1591 S -> P (in dbSNP:rs16891281). proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GAGTTCTTTTGACTTTTGGAG 0.537000 HNSCC(64;0.19) 4 160 0 0 1 0 0 SLC1A5 6510 broad.mit.edu 37 19 47280509 47280509 + Silent SNP G G A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr19:47280509G>A ENST00000542575.2 - 6 1840 c.1212C>T c.(1210-1212)ctC>ctT p.L404L SLC1A5_ENST00000412532.2_Silent_p.L176L|SLC1A5_ENST00000434726.2_Silent_p.L202L|SLC1A5_ENST00000594991.1_Silent_p.L228L NM_005628.2 NP_005619.1 Q15758 AAAT_HUMAN solute carrier family 1 (neutral amino acid transporter), member 5 404 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1) 13 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) ACTGCTGGCTGAGCTGTGCAA 0.612000 7 34 0 0 1 0 0 RLF 6018 broad.mit.edu 37 1 40702659 40702659 + Missense_Mutation SNP A A G TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr1:40702659A>G ENST00000372771.4 + 8 2312 c.2285A>G c.(2284-2286)cAt>cGt p.H762R NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 762 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) CTACTTAACCATAAACAAAAG 0.398000 9 109 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 3 44 0.004672 0.00503538 1 1 0 CDK3 1018 broad.mit.edu 37 17 73999335 73999335 + Silent SNP T T C TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr17:73999335T>C ENST00000425876.2 + 6 736 c.648T>C c.(646-648)ttT>ttC p.F216F TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Silent_p.F216F Q00526 CDK3_HUMAN cyclin-dependent kinase 3 216 Protein kinase. cell division|cell proliferation|mitosis ATP binding|cyclin-dependent protein kinase activity central_nervous_system(1) 1 TTCGTATCTTTCGTATGCTGG 0.552000 26 161 0 0 1 0 0 ETV4 2118 broad.mit.edu 37 17 41610249 41610249 + Missense_Mutation SNP G G A rs144213199 TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr17:41610249G>A ENST00000319349.5 - 8 902 c.604C>T c.(604-606)Cgg>Tgg p.R202W ETV4_ENST00000591713.1_Missense_Mutation_p.R202W|ETV4_ENST00000545954.1_Missense_Mutation_p.R163W|ETV4_ENST00000538265.1_Missense_Mutation_p.R163W|ETV4_ENST00000545089.1_Missense_Mutation_p.R148W|ETV4_ENST00000393664.2_Missense_Mutation_p.R202W NM_001079675.2 NP_001073143.1 P43268 ETV4_HUMAN ets variant 4 202 Gln-rich. positive regulation of transcription, DNA-dependent nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2) ovary(2)|upper_aerodigestive_tract(1) 3 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0798) AGGGGTTCCCGGCCCCCTCCC 0.567000 T """EWSR1, TMPRSS2, DDX5, KLK2, CANT1""" """Ewing sarcoma, Prostate carcinoma""" 13 53 0 0 1 0 0 IGHG2 3501 broad.mit.edu 37 14 106110079 106110079 + RNA SNP C C T TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr14:106110079C>T ENST00000390545.2 - 0 538 GCTGACCACACGGAACGTGCT 0.587000 14 279 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152081414 152081414 + Missense_Mutation SNP C C G TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr1:152081414C>G ENST00000368804.1 - 2 4278 c.4279G>C c.(4279-4281)Gag>Cag p.E1427Q NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1427 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGTCACGCTCTTGGCGGCTC 0.597000 OREG0031687 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 5 149 0 0 1 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43522967 43522967 + Missense_Mutation SNP C C G TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr17:43522967C>G ENST00000430334.3 - 9 2839 c.2706G>C c.(2704-2706)caG>caC p.Q902H PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.Q813H NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 902 intracellular signal transduction cytoplasm metal ion binding p.Q902Q(1) breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) CGTTCACCATCTGCAGGTTGA 0.607000 3 85 0 0 1 0 0 MYLIP 29116 broad.mit.edu 37 6 16145390 16145390 + Missense_Mutation SNP G G A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr6:16145390G>A ENST00000349606.4 + 5 1051 c.547G>A c.(547-549)Gag>Aag p.E183K MYLIP_ENST00000356840.3_Missense_Mutation_p.E364K Q8WY64 MYLIP_HUMAN myosin regulatory light chain interacting protein 364 FERM. cellular component movement|nervous system development cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(50;0.0799)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.241) CAGCAGCTGCGAGGGCCTCAG 0.572000 6 92 0 0 1 0 0 PPARG 5468 broad.mit.edu 37 3 12447507 12447507 + Missense_Mutation SNP C C T TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr3:12447507C>T ENST00000397026.2 + 7 1063 c.680C>T c.(679-681)tCa>tTa p.S227L PPARG_ENST00000397015.2_Missense_Mutation_p.S221L|PPARG_ENST00000397010.2_Missense_Mutation_p.S221L|PPARG_ENST00000539812.1_Missense_Mutation_p.S219L|PPARG_ENST00000287820.6_Missense_Mutation_p.S249L|PPARG_ENST00000309576.6_Missense_Mutation_p.S221L|PPARG_ENST00000397012.2_Missense_Mutation_p.S221L|PPARG_ENST00000397000.1_Missense_Mutation_p.S221L P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 249 Interaction with FAM120B (By similarity). activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) TTGTATGACTCATACATAAAG 0.502000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 13 21 0 0 1 0 0 SEMG1 6406 broad.mit.edu 37 20 43837086 43837086 + Missense_Mutation SNP C C T TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr20:43837086C>T ENST00000372781.3 + 2 1205 c.1148C>T c.(1147-1149)gCa>gTa p.A383V SEMG1_ENST00000244069.6_Missense_Mutation_p.A323V NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) AAGCTAGTAGCAGGCAAGTCT 0.433000 3 39 0 0 1 0 0 LZTR1 8216 broad.mit.edu 37 22 21341816 21341816 + Missense_Mutation SNP C C T TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr22:21341816C>T ENST00000215739.8 + 4 703 c.344C>T c.(343-345)cCg>cTg p.P115L LZTR1_ENST00000389355.3_Missense_Mutation_p.P96L|LZTR1_ENST00000479606.1_3'UTR NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 115 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) GGGACCCCACCGGCCCCCCGT 0.667000 6 47 0 0 1 0 0 ZNF57 126295 broad.mit.edu 37 19 2917193 2917193 + Missense_Mutation SNP G G A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr19:2917193G>A ENST00000306908.5 + 4 722 c.574G>A c.(574-576)Gag>Aag p.E192K AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.E160K NM_173480.2 NP_775751.1 Q68EA5 ZNF57_HUMAN zinc finger protein 57 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) AACTGACACTGAGGAGAAGCC 0.498000 3 44 0 0 1 0 0 CD37 951 broad.mit.edu 37 19 49838988 49838988 + Missense_Mutation SNP C C G TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr19:49838988C>G ENST00000535669.2 + 2 201 c.87C>G c.(85-87)atC>atG p.I29M CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000596426.1_3'UTR|CD37_ENST00000598095.1_5'UTR|CD37_ENST00000426897.2_5'UTR|CD37_ENST00000323906.4_Missense_Mutation_p.I29M P11049 CD37_HUMAN CD37 molecule 29 integral to membrane p.I29I(2) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 11 all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443) GCAGCCTGATCTTCTGCTTCG 0.662000 10 276 0 0 1 0 0 FBXW12 285231 broad.mit.edu 37 3 48423525 48423525 + Silent SNP C C A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr3:48423525C>A ENST00000296438.5 + 10 1431 c.1245C>A c.(1243-1245)ctC>ctA p.L415L FBXW12_ENST00000415155.1_Silent_p.L345L|FBXW12_ENST00000436231.1_Silent_p.L258L|FBXW12_ENST00000468158.1_3'UTR|FBXW12_ENST00000445170.1_Silent_p.L396L NM_207102.2 NP_996985.2 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 415 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ATCCATACCTCAGGAGCTGCT 0.473000 9 53 0.00448238 0.00494081 1 1 0 KCNJ4 3761 broad.mit.edu 37 22 38823348 38823348 + Missense_Mutation SNP C C T TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr22:38823348C>T ENST00000303592.3 - 2 1048 c.790G>A c.(790-792)Gag>Aag p.E264K NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 264 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) TCGTCGATCTCGTGGACAATG 0.617000 5 33 0 0 1 0 0 CCDC25 55246 broad.mit.edu 37 8 27606026 27606026 + Missense_Mutation SNP G G A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr8:27606026G>A ENST00000356537.4 - 6 427 c.334C>T c.(334-336)Cac>Tac p.H112Y CCDC25_ENST00000522915.1_Missense_Mutation_p.H44Y|CCDC25_ENST00000539095.1_Missense_Mutation_p.H44Y|RP11-16P20.3_ENST00000521510.1_RNA NM_018246.2 NP_060716.2 Q86WR0 CCD25_HUMAN coiled-coil domain containing 25 112 endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154) TTCTGCCTGTGAAAGCCTATC 0.468000 6 91 0 0 1 0 0 PFAS 5198 broad.mit.edu 37 17 8168889 8168889 + Missense_Mutation SNP C C T TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr17:8168889C>T ENST00000314666.6 + 20 2610 c.2477C>T c.(2476-2478)tCa>tTa p.S826L PFAS_ENST00000545834.1_Missense_Mutation_p.S402L NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 826 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CTGGTCATCTCAGCCTATGCC 0.567000 12 66 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79051886 79051886 + Silent SNP G G A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr15:79051886G>A ENST00000388820.4 - 24 5148 c.4938C>T c.(4936-4938)tgC>tgT p.C1646C NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1646 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.C1646C(4) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 GCAGCGTCTCGCAGAACCCGA 0.701000 3 4 0 0 1 0 0 TSG101 7251 broad.mit.edu 37 11 18502153 18502153 + Silent SNP G G A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr11:18502153G>A ENST00000251968.3 - 10 1528 c.1113C>T c.(1111-1113)ttC>ttT p.F371F TSG101_ENST00000536719.1_Intron|TSG101_ENST00000357193.3_Silent_p.F266F NM_006292.3 NP_006283.1 Q99816 TS101_HUMAN tumor susceptibility 101 371 SB. cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 22 CCCTCAGCTGGAACTGTTTAC 0.443000 4 37 0 0 1 0 0 KIAA1377 57562 broad.mit.edu 37 11 101832732 101832732 + Missense_Mutation SNP G G C TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr11:101832732G>C ENST00000263468.8 + 6 1236 c.966G>C c.(964-966)caG>caC p.Q322H KIAA1377_ENST00000537689.1_Missense_Mutation_p.Q123H NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 322 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) CAAATACTCAGAATGTCACAG 0.303000 3 70 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89395322 89395322 + RNA SNP C C T TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr11:89395322C>T ENST00000532352.1 + 0 720 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTTCAGAATACGCTTATAGGC 0.343000 4 43 0 0 1 0 0 IGHG1 3500 broad.mit.edu 37 14 106208487 106208487 + RNA SNP C C T TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr14:106208487C>T ENST00000390548.2 - 0 412 CTCAGGGGTCCGGGAGATCAT 0.592000 19 108 0 0 1 0 0 SMCHD1 23347 broad.mit.edu 37 18 2770087 2770087 + Silent SNP G G A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr18:2770087G>A ENST00000320876.6 + 39 5285 c.4947G>A c.(4945-4947)caG>caA p.Q1649Q RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.Q1649Q NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 1649 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 CCAGCCAACAGCTTCTTAATG 0.343000 4 45 0 0 1 0 0 SLC1A5 6510 broad.mit.edu 37 19 47280590 47280590 + Silent SNP G G A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr19:47280590G>A ENST00000542575.2 - 6 1759 c.1131C>T c.(1129-1131)ttC>ttT p.F377F SLC1A5_ENST00000412532.2_Silent_p.F149F|SLC1A5_ENST00000434726.2_Silent_p.F175F|SLC1A5_ENST00000594991.1_Silent_p.F201F NM_005628.2 NP_005619.1 Q15758 AAAT_HUMAN solute carrier family 1 (neutral amino acid transporter), member 5 377 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1) 13 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) TGGGCAGGATGAAACGGCTGA 0.607000 3 28 0 0 1 0 0 IGHV3-16 28447 broad.mit.edu 37 14 106622327 106622327 + RNA SNP A A T TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr14:106622327A>T ENST00000390604.2 - 0 92 AGAAAAACCCAGCTCAGCCCA 0.458000 8 57 0 0 1 0 0 SAGE1 55511 broad.mit.edu 37 X 134983819 134983819 + Missense_Mutation SNP G G C TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chrX:134983819G>C ENST00000535938.1 + 3 356 c.189G>C c.(187-189)aaG>aaC p.K63N SAGE1_ENST00000537770.1_Missense_Mutation_p.K63N|SAGE1_ENST00000324447.3_Missense_Mutation_p.K63N|SAGE1_ENST00000370709.3_Missense_Mutation_p.K63N NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 63 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) AGAGAAGGAAGAGTATGTCCT 0.428000 6 98 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 3 25 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50051780 50051780 + Silent SNP G G A rs142900177 TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr20:50051780G>A ENST00000371564.3 - 8 2196 c.1977C>T c.(1975-1977)taC>taT p.Y659Y NFATC2_ENST00000414705.1_Silent_p.Y639Y|NFATC2_ENST00000396009.3_Silent_p.Y659Y|NFATC2_ENST00000610033.1_Silent_p.Y440Y|NFATC2_ENST00000609507.1_Silent_p.Y440Y|NFATC2_ENST00000609943.1_Silent_p.Y639Y NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 659 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) CATTGATGACGTAGAAGTTCA 0.428000 20 171 0 0 1 0 0 PRKD1 5587 broad.mit.edu 37 14 30068919 30068919 + Missense_Mutation SNP G G C TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr14:30068919G>C ENST00000331968.5 - 14 2239 c.2010C>G c.(2008-2010)atC>atG p.I670M PRKD1_ENST00000415220.2_Missense_Mutation_p.I678M NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 670 Protein kinase. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) CACTTGACAAGATCATTTCCA 0.363000 7 85 0 0 1 0 0 ARL6 84100 broad.mit.edu 37 3 97516867 97516867 + Splice_Site SNP G G C TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr3:97516867G>C ENST00000463745.1 + 8 1012 c.e8-1 ARL6_ENST00000335979.2_Splice_Site|ARL6_ENST00000394206.1_Splice_Site NM_001278293.1 NP_001265222.1 Q9H0F7 ARL6_HUMAN ADP-ribosylation factor-like 6 cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body GTP binding|metal ion binding|phospholipid binding|protein binding large_intestine(1)|lung(4) 5 Lung NSC(201;0.0193)|Prostate(884;0.174) LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189) TTTGTTATCAGATCAGATCCA 0.284000 6 149 0 0 1 0 0 COG4 25839 broad.mit.edu 37 16 70530258 70530258 + Missense_Mutation SNP C C A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr16:70530258C>A ENST00000323786.5 - 12 1579 c.1558G>T c.(1558-1560)Gcc>Tcc p.A520S NM_001195139.1|NM_015386.2 NP_001182068.1|NP_056201.2 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 516 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) ATGTTCACGGCACTTGTCACC 0.557000 3 44 0.150653 0.153825 1 1 0 PDS5B 23047 broad.mit.edu 37 13 33232664 33232664 + Missense_Mutation SNP A A T TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr13:33232664A>T ENST00000315596.10 + 5 679 c.493A>T c.(493-495)Ata>Tta p.I165L NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 165 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) ATTTTCAGTTATAAAGTAAGT 0.269000 5 65 0 0 1 0 0 CLIP1 6249 broad.mit.edu 37 12 122862043 122862043 + Missense_Mutation SNP G G C TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr12:122862043G>C ENST00000358808.2 - 3 704 c.550C>G c.(550-552)Ccg>Gcg p.P184A CLIP1_ENST00000361654.4_Missense_Mutation_p.P184A|CLIP1_ENST00000537178.1_Missense_Mutation_p.P184A|CLIP1_ENST00000540338.1_Missense_Mutation_p.P184A|CLIP1_ENST00000302528.7_Missense_Mutation_p.P184A NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 184 Ser-rich. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TTGCTGATCGGAGGCGTAGCT 0.507000 8 169 0 0 1 0 0 THAP3 90326 broad.mit.edu 37 1 6688688 6688688 + Silent SNP A A C TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr1:6688688A>C ENST00000377627.3 + 2 231 c.204A>C c.(202-204)ggA>ggC p.G68G THAP3_ENST00000307896.6_Silent_p.G68G|THAP3_ENST00000054650.4_Silent_p.G68G NM_138350.3 NP_612359.2 Q8WTV1 THAP3_HUMAN THAP domain containing, apoptosis associated protein 3 68 DNA binding|metal ion binding breast(1)|cervix(1)|large_intestine(1)|prostate(1) 4 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) GCGCCTTTGGAAACCGCAAGA 0.592000 4 47 0 0 1 0 0 NPHP3 27031 broad.mit.edu 37 3 132413764 132413764 + Missense_Mutation SNP G G T TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr3:132413764G>T ENST00000337331.5 - 16 2303 c.2217C>A c.(2215-2217)ttC>ttA p.F739L NPHP3_ENST00000326682.8_3'UTR NM_153240.4 NP_694972.3 Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 739 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CTTGACACTGGAAACACTGAT 0.388000 4 98 5.9392e-07 7.11238e-07 1 1 0 ZNF594 84622 broad.mit.edu 37 17 5086456 5086456 + Missense_Mutation SNP C C T TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr17:5086456C>T ENST00000399604.4 - 1 1236 c.1096G>A c.(1096-1098)Gag>Aag p.E366K ZNF594_ENST00000575779.1_Missense_Mutation_p.E366K Q96JF6 ZN594_HUMAN zinc finger protein 594 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 ATTCTCTGCTCTTCCCTAAGC 0.448000 8 243 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 6 47 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 32 0 0 1 0 0 ABCC5 10057 broad.mit.edu 37 3 183679424 183679424 + Nonsense_Mutation SNP C C A TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr3:183679424C>A ENST00000334444.6 - 16 2494 c.2254G>T c.(2254-2256)Gaa>Taa p.E752* ABCC5_ENST00000265586.6_Nonsense_Mutation_p.E752* NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 752 ABC transporter 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AAGATCACTTCATCACAGTCA 0.388000 4 71 0.014758 0.0155601 1 1 0 UBE2Q1 55585 broad.mit.edu 37 1 154525581 154525581 + Frame_Shift_Del DEL T T - TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr1:154525581delT ENST00000292211.4 - 5 735 c.656delA c.(655-657)gatfs p.D220fs UBE2Q1_ENST00000497453.1_5'UTR NM_017582.6 NP_060052.3 Q7Z7E8 UB2Q1_HUMAN ubiquitin-conjugating enzyme E2Q family member 1 220 ATP binding|protein binding|ubiquitin-protein ligase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) AATGCCATCATCTTCAGATTT 0.433 9 81 --- --- --- --- HSPD1P6 645548 broad.mit.edu 37 3 36810381 36810381 + RNA DEL T T - TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr3:36810381delT ENST00000424886.1 - 0 405 GAGTGAGGCCttttttttttt 0.542 2 4 --- --- --- --- PMS2CL 441194 broad.mit.edu 37 7 6775144 6775144 + RNA DEL C C - rs28729319 TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr7:6775144delC ENST00000486256.1 + 0 833 NR_002217.1 TTTTTTTTTTCTTTTTGAGAC 0.398 2 4 --- --- --- --- AGAP11 119385 broad.mit.edu 37 10 88767686 88767686 + RNA DEL T T - rs71019446 TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr10:88767686delT ENST00000444431.1 + 0 2711 RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding AAAATGTATCttttttttttt 0.413 2 4 --- --- --- --- HERC2P9 440248 broad.mit.edu 37 15 28900331 28900331 + RNA DEL A A - TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr15:28900331delA ENST00000528584.1 + 0 14 NR_036443.1 actctgtctcaaaaaaaaaaa 0.413 3 3 --- --- --- --- IL9RP3 729486 broad.mit.edu 37 16 81973 81974 + RNA INS - - GTCC TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr16:81973_81974insGTCC ENST00000568710.1 - 0 349 ATCAGCAGGAGGCCCACCTCGT 0.614 2 4 --- --- --- --- NPIPB11 728888 broad.mit.edu 37 16 29394767 29394769 + In_Frame_Del DEL TAT TAT - TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr16:29394767_29394769delTAT ENST00000524087.1 - 8 1558_1560 c.1484_1486delATA c.(1483-1488)aatatc>atc p.N495del SNX29P2_ENST00000398878.3_lincRNA nuclear pore complex interacting protein family, member B11 GGTGTCTTGATATTATCATCTGC 0.586 3 3 --- --- --- --- UPF1 5976 broad.mit.edu 37 19 18976891 18976891 + Frame_Shift_Del DEL C C - TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr19:18976891delC ENST00000262803.5 + 23 3548 c.3276delC c.(3274-3276)gacfs p.D1092fs UPF1_ENST00000599848.1_Frame_Shift_Del_p.D1103fs NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 1103 Gln/Ser-rich. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 CACAAATCGACGTGGCGCTCT 0.577 8 94 --- --- --- --- CD3EAP 10849 broad.mit.edu 37 19 45911859 45911861 + In_Frame_Del DEL GAA GAA - TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chr19:45911859_45911861delGAA ENST00000309424.3 + 3 1121_1123 c.633_635delGAA c.(631-636)cggaag>cgg p.K217del ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.K219del NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 217 Poly-Lys. rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) TGGATGTGCGGAAGAAGAAGAAG 0.581 7 96 --- --- --- --- RNA5-8SP6 100873336 broad.mit.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0fec8a1-76ee-40a1-80c5-4cf8ab5540c6 9375b535-87d5-4b4e-81ab-8986e4e1dce3 g.chrY:10037863delC ENST00000515896.1 + 0 100 ATCGACACTTCGAACGCACTT 0.552 3 6 --- --- --- ---