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 MT-RNR2 0 broad.mit.edu 37 MT 2953 2953 + RNA SNP T T C TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chrM:2953T>C ENST00000387347.2 + 0 1283 NR_039705.1 GCGCAATCCTATTCTAGAGTC 0.428000 26 221 0 0 1 0 0 USP31 57478 broad.mit.edu 37 16 23080559 23080559 + Missense_Mutation SNP C C T TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr16:23080559C>T ENST00000219689.7 - 16 2866 c.2867G>A c.(2866-2868)cGc>cAc p.R956H USP31_ENST00000567975.1_Missense_Mutation_p.R249H NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 956 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) GTTCAATCTGCGGGTGTCCGA 0.552000 12 113 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr16:90162513T>C ENST00000564451.1 + 0 1866 TUBB8P7_ENST00000567960.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 7 135 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR 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 4 51 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129823889 129823889 + Missense_Mutation SNP C C T TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr6:129823889C>T ENST00000421865.2 + 59 8379 c.8330C>T c.(8329-8331)gCa>gTa p.A2777V NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2777 Laminin G-like 4. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ATTGCAATTGCATTTGATGAC 0.408000 6 36 0 0 1 0 0 RPL31P11 0 broad.mit.edu 37 1 161654693 161654693 + RNA SNP A A G rs1256287 by1000genomes TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr1:161654693A>G ENST00000426558.1 - 0 349 NR_002595.1 TAACCAAAGTATAGAGCTTAT 0.398000 3 24 0 0 1 0 0 SLC34A1 6569 broad.mit.edu 37 5 176825109 176825109 + Missense_Mutation SNP G G A TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr5:176825109G>A ENST00000324417.5 + 13 1833 c.1742G>A c.(1741-1743)cGc>cAc p.R581H SLC34A1_ENST00000513614.1_3'UTR NM_003052.4 NP_003043.3 Q06495 NPT2A_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 1 581 phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTCCTGCCTCGCTGGATGCAC 0.667000 13 53 0 0 1 0 0 CLIC2 1193 broad.mit.edu 37 X 154508571 154508571 + Nonsense_Mutation SNP A A C TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chrX:154508571A>C ENST00000369449.2 - 5 667 c.449T>G c.(448-450)tTa>tGa p.L150* CLIC2_ENST00000465553.1_5'UTR NM_001289.4 NP_001280.3 O15247 CLIC2_HUMAN chloride intracellular channel 2 150 C-terminal.|GST C-terminal. signal transduction chloride channel complex|cytoplasm|nucleus voltage-gated chloride channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 18 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGGGGTGTTTAAGTAGTCATC 0.408000 16 14 0 0 1 0 0 USP30 84749 broad.mit.edu 37 12 109519737 109519737 + Splice_Site SNP G G A TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr12:109519737G>A ENST00000257548.5 + 9 873 c.e9-1 USP30_ENST00000392784.2_Splice_Site NM_032663.3 NP_116052.2 Q70CQ3 UBP30_HUMAN ubiquitin specific peptidase 30 ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2) 28 TCATGCTGTAGGGTCACCCAT 0.428000 25 109 0 0 1 0 0 CYP1A2 1544 broad.mit.edu 37 15 75042314 75042314 + Missense_Mutation SNP C C T TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr15:75042314C>T ENST00000343932.4 + 2 298 c.235C>T c.(235-237)Cgc>Tgc p.R79C NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 79 R -> S (in Ref. 2; AAA35738). alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) CCTGCAGATCCGCATTGGCTC 0.672000 12 32 0 0 1 0 0 GRIA1 0 broad.mit.edu 37 5 153175109 153175109 + Missense_Mutation SNP T T C TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr5:153175109T>C ENST00000340592.5 + 14 2417 c.2344T>C c.(2344-2346)Tac>Cac p.Y782H GRIA1_ENST00000518783.1_Intron|GRIA1_ENST00000521843.2_Intron|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000448073.4_Missense_Mutation_p.Y792H|GRIA1_ENST00000285900.5_Intron NM_001114183.1|NM_001258020.1 NP_001107655.1|NP_001244949.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 782 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CAAATGGTGGTACGATAAAGG 0.473000 8 34 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196648911 196648911 + Missense_Mutation SNP C C T TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr1:196648911C>T ENST00000367429.4 + 6 1018 c.778C>T c.(778-780)Cct>Tct p.P260S CFH_ENST00000439155.2_Missense_Mutation_p.P260S|CFH_ENST00000359637.2_Missense_Mutation_p.P196S NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 260 Sushi 4. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 GCGTCCGTTGCCTTCATGTGA 0.294000 5 28 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28540669 28540669 + Silent SNP G G A TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr6:28540669G>A ENST00000452236.2 - 4 3614 c.2997C>T c.(2995-2997)tgC>tgT p.C999C NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 999 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 gatgaatgaagcaatgtgttg 0.328000 13 67 0 0 1 0 0 ZNF443 10224 broad.mit.edu 37 19 12541141 12541141 + Silent SNP C C T TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr19:12541141C>T ENST00000301547.5 - 4 2042 c.1845G>A c.(1843-1845)ccG>ccA p.P615P CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 615 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 TACATTCATACGGGTTCTCTC 0.403000 3 31 0 0 1 0 0 CNST 163882 broad.mit.edu 37 1 246810446 246810446 + Missense_Mutation SNP A A G TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr1:246810446A>G ENST00000366513.4 + 9 1212 c.943A>G c.(943-945)Aaa>Gaa p.K315E CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.K315E NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 315 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 TTTAGAGAGTAAAACTTGTCT 0.388000 OREG0014367 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 40 0 0 1 0 0 CAMK2D 817 broad.mit.edu 37 4 114436309 114436309 + Silent SNP G G A TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr4:114436309G>A ENST00000454265.2 - 10 1593 c.735C>T c.(733-735)gcC>gcT p.A245A CAMK2D_ENST00000394522.3_Silent_p.A245A|CAMK2D_ENST00000511664.1_Silent_p.A245A|CAMK2D_ENST00000508738.1_Silent_p.A245A|CAMK2D_ENST00000394524.3_Silent_p.A245A|CAMK2D_ENST00000514328.1_Silent_p.A245A|CAMK2D_ENST00000296402.5_Silent_p.A245A|CAMK2D_ENST00000429180.1_Silent_p.A245A|CAMK2D_ENST00000342666.5_Silent_p.A245A|CAMK2D_ENST00000515496.1_Silent_p.A245A|CAMK2D_ENST00000379773.2_Silent_p.A245A|CAMK2D_ENST00000505990.1_Silent_p.A245A|CAMK2D_ENST00000418639.2_Silent_p.A245A|CAMK2D_ENST00000394526.2_Silent_p.A245A Q13557 KCC2D_HUMAN calcium/calmodulin-dependent protein kinase II delta 245 Protein kinase. interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 13 Ovarian(17;0.00369)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000271) TGAGGTCTTTGGCTTCAGGAG 0.398000 15 64 0 0 1 0 0 FEM1A 55527 broad.mit.edu 37 19 4793724 4793724 + Missense_Mutation SNP C C A TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr19:4793724C>A ENST00000269856.3 + 1 1997 c.1858C>A c.(1858-1860)Ctg>Atg p.L620M AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 620 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity p.L620M(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GGCCTACGAGCTGCTGGACGA 0.607000 4 31 1 1 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 13 55 0 0 1 0 0 CCT7 10574 broad.mit.edu 37 2 73478419 73478419 + Nonsense_Mutation SNP C C G TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr2:73478419C>G ENST00000539919.1 + 12 1508 c.1137C>G c.(1135-1137)taC>taG p.Y379* CCT7_ENST00000398422.2_Nonsense_Mutation_p.Y219*|CCT7_ENST00000537131.1_Nonsense_Mutation_p.Y323*|CCT7_ENST00000258091.5_Nonsense_Mutation_p.Y423*|CCT7_ENST00000540468.1_Nonsense_Mutation_p.Y336*|CCT7_ENST00000538797.1_Nonsense_Mutation_p.Y295* NM_001166285.1 NP_001159757.1 Q99832 TCPH_HUMAN chaperonin containing TCP1, subunit 7 (eta) 423 'de novo' posttranslational protein folding ATP binding|unfolded protein binding breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1) 7 TGCGGGATTACTCAAGGACTA 0.517000 24 81 0 0 1 0 0 TFAP2B 7021 broad.mit.edu 37 6 50807962 50807962 + Missense_Mutation SNP C C A TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr6:50807962C>A ENST00000263046.4 + 7 1227 c.1061C>A c.(1060-1062)aCa>aAa p.T354K TFAP2B_ENST00000393655.3_Missense_Mutation_p.T345K Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 345 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) CGGCAGCACACAGACCCGAGT 0.517000 12 72 7.03913e-09 7.24024e-09 1 1 0 DHX35 60625 broad.mit.edu 37 20 37634881 37634881 + Silent SNP C C T TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr20:37634881C>T ENST00000252011.3 + 12 1137 c.1104C>T c.(1102-1104)taC>taT p.Y368Y DHX35_ENST00000373323.4_Silent_p.Y337Y|DHX35_ENST00000373325.2_Silent_p.Y368Y NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 368 Helicase C-terminal. catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) TCCGAGCCTACAATCCCAGGA 0.522000 60 239 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56704396 56704396 + Nonsense_Mutation SNP C C T TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr19:56704396C>T ENST00000586855.2 - 2 339 c.26G>A c.(25-27)tGg>tAg p.W9* ZSCAN5B_ENST00000358992.3_Nonsense_Mutation_p.W9* A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 9 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TCCCTGACCCCATGAGAGTGT 0.502000 2 2 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12575498 12575498 + Missense_Mutation SNP G G A TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr19:12575498G>A ENST00000397732.3 - 4 1409 c.1238C>T c.(1237-1239)aCt>aTt p.T413I CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T413I(2) large_intestine(3)|upper_aerodigestive_tract(3) 6 TCCAGTGTGAGTTCTTTCATG 0.418000 4 57 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37419199 37419199 + Missense_Mutation SNP G G A TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr10:37419199G>A ENST00000374660.1 + 3 334 c.235G>A c.(235-237)Gta>Ata p.V79I ANKRD30A_ENST00000361713.1_Missense_Mutation_p.V79I|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.V79I Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 135 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.V79I(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TATAAATCTCGTAGATGTGTA 0.423000 7 36 0 0 1 0 0 RP11-640M9.2 0 broad.mit.edu 37 1 144598726 144598726 + RNA SNP A A C TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr1:144598726A>C ENST00000419820.1 + 0 654 CATTCGGTGCACCAAGAGCAA 0.572000 3 22 0 0 1 0 0 GOLGA6L7P 0 broad.mit.edu 37 15 29092257 29092257 + RNA SNP C C T rs75388271 by1000genomes TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr15:29092257C>T ENST00000569815.1 - 0 258 NR_047567.1 TCAGGGTTAGCGCCATGATTT 0.547000 4 36 0 0 1 0 0 KLHL5 51088 broad.mit.edu 37 4 39088270 39088270 + Missense_Mutation SNP C C T TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr4:39088270C>T ENST00000261425.3 + 6 1188 c.1036C>T c.(1036-1038)Cgt>Tgt p.R346C KLHL5_ENST00000381930.3_Missense_Mutation_p.R392C|KLHL5_ENST00000261426.5_Missense_Mutation_p.R331C|KLHL5_ENST00000508137.2_Missense_Mutation_p.R205C|KLHL5_ENST00000359687.2_Missense_Mutation_p.R392C|KLHL5_ENST00000504108.1_Missense_Mutation_p.R392C NM_001007075.2 NP_001007076.1 Q96PQ7 KLHL5_HUMAN kelch-like family member 5 392 cytoplasm|cytoskeleton actin binding endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 TACTTGGGTCCGTCATGATTT 0.388000 5 42 0 0 1 0 0 PRSS54 221191 broad.mit.edu 37 16 58324928 58324928 + Missense_Mutation SNP G G T TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr16:58324928G>T ENST00000219301.4 - 4 592 c.198C>A c.(196-198)caC>caA p.H66Q PRSS54_ENST00000567164.1_Missense_Mutation_p.H66Q|PRSS54_ENST00000543437.1_Intron NM_001080492.1 NP_001073961.1 Q6PEW0 PRS54_HUMAN protease, serine, 54 66 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CGAAAGCCAGGTGTGTGTACT 0.607000 12 59 1.02788e-11 1.08835e-11 1 1 0 SRD5A1 6715 broad.mit.edu 37 5 6663021 6663021 + Missense_Mutation SNP G G A TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr5:6663021G>A ENST00000274192.5 + 4 889 c.655G>A c.(655-657)Gcg>Acg p.A219T SRD5A1_ENST00000538824.1_Missense_Mutation_p.A172T|SRD5A1_ENST00000537411.1_3'UTR NM_001047.2 NP_001038.1 P18405 S5A1_HUMAN steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) 219 androgen biosynthetic process|cell differentiation|sex determination|sex differentiation endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Dutasteride(DB01126)|Finasteride(DB01216) TGTCCAAGGCGCGGCTTTTGC 0.408000 22 69 0 0 1 0 0 PRDM7 11105 broad.mit.edu 37 16 90126823 90126823 + Missense_Mutation SNP T T G TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr16:90126823T>G ENST00000449207.2 - 9 1178 c.1159A>C c.(1159-1161)Atg>Ctg p.M387L PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron NM_001098173.1 NP_001091643.1 Q9NQW5 PRDM7_HUMAN PR domain containing 7 387 chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCATCCCCATACCAGACCAG 0.522000 3 80 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78429792 78429792 + Nonsense_Mutation SNP A A T TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr1:78429792A>T ENST00000370767.1 - 12 1083 c.996T>A c.(994-996)tgT>tgA p.C332* FUBP1_ENST00000436586.2_Nonsense_Mutation_p.C353*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.C332* Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 332 KH 3. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 CAGCATGTTGACATCGGTCTG 0.328000 """F, N""" oligodendroglioma 21 66 0 0 1 0 0 FOXM1 2305 broad.mit.edu 37 12 2968215 2968215 + Silent SNP C C T TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr12:2968215C>T ENST00000342628.2 - 10 2108 c.1995G>A c.(1993-1995)acG>acA p.T665T FOXM1_ENST00000361953.3_Silent_p.T612T|FOXM1_ENST00000359843.3_Silent_p.T627T|ITFG2_ENST00000545509.1_Intron NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 627 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) TGGCTGGGGGCGTGAGCCTCC 0.592000 18 83 0 0 1 0 0 RNF223 401934 broad.mit.edu 37 1 1007253 1007253 + Frame_Shift_Del DEL G G - TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr1:1007253delG ENST00000453464.2 - 2 994 c.694delC c.(694-696)ggfs p.R232fs NM_001205252.1 NP_001192181.1 E7ERA6 RN223_HUMAN ring finger protein 223 232 integral to membrane zinc ion binding GCCGGGGGCCGGGGGGGCAGG 0.701 3 6 --- --- --- --- SPRR3 6707 broad.mit.edu 37 1 152975806 152975829 + In_Frame_Del DEL CCAGGCTACACCAAGGTCCCTGAA CCAGGCTACACCAAGGTCCCTGAA - rs1970328 byFrequency TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr1:152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA ENST00000331860.3 + 3 460_483 c.310_333delCCAGGCTACACCAAGGTCCCTGAA c.(310-333)del p.PGYTKVPE104del SPRR3_ENST00000295367.4_In_Frame_Del_p.PGYTKVPE104del|SPRR3_ENST00000542696.1_In_Frame_Del_p.PGYTKVPE96del NM_005416.2 NP_005407.1 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 104 14 X 8 AA approximate tandem repeats. Missing. keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity p.Y106C(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGTCCCTGAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCA 0.567 10 81 --- --- --- --- PIK3CA 5290 broad.mit.edu 37 3 178916938 178916940 + In_Frame_Del DEL GAA GAA - TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr3:178916938_178916940delGAA ENST00000263967.3 + 2 482_484 c.325_327delGAA c.(325-327)del p.E110del NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 110 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.E109del(3)|p.G106_R108del(1) 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) AGGCAACCGTGAAGAAAAGATCC 0.340 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 9 38 --- --- --- --- SNAPC4 6621 broad.mit.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT GCT - rs34222232 TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr9:139277995_139277997delGCT ENST00000298532.2 - 15 1992_1994 c.1624_1626delAGC c.(1624-1626)del p.S542del NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 542 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.S542delS(2) biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGTCCTCCTCgctgctgctgctg 0.690 5 3 --- --- --- --- LINC00842 0 broad.mit.edu 37 10 47098318 47098318 + RNA DEL G G - rs116588105 by1000genomes TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr10:47098318delG ENST00000422732.2 - 0 1012 NR_033957.1 AGGAGGTCTTGGTGGACAGGA 0.592 2 4 --- --- --- --- FNBP4 23360 broad.mit.edu 37 11 47788664 47788669 + In_Frame_Del DEL GGTGGT GGTGGT - rs59413596 TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr11:47788664_47788669delGGTGGT ENST00000263773.5 - 1 184_189 c.172_177delACCACC c.(172-177)del p.TT58del FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 58 p.T58_T59delTT(3) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 CAGTCACCGCGGTGGTGGTGGTCGTC 0.748 3 5 --- --- --- --- YBX2 51087 broad.mit.edu 37 17 7197580 7197581 + Frame_Shift_Ins INS - - G TCGA-HT-7620-01A-11D-2253-08 TCGA-HT-7620-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e2dba25-2fc2-4f3b-90f0-663e1576a6bf 1f1dbf44-a66f-478b-9efa-9e76ca91f4bc g.chr17:7197580_7197581insG ENST00000007699.5 - 1 302_303 c.239_240insC c.(238-240)cgcfs p.R80fs YBX2_ENST00000570627.1_Intron NM_015982.3 NP_057066.2 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 80 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3) 12 GACTCCGGGCCGGGGGGGCGGG 0.802 2 4 --- --- --- ---