Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 4 107 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181707520 181707520 + Silent SNP C C T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr1:181707520C>T ENST00000526775.1 + 23 3678 c.3513C>T c.(3511-3513)gaC>gaT p.D1171D CACNA1E_ENST00000360108.3_Silent_p.D1171D|CACNA1E_ENST00000367570.1_Silent_p.D1190D|CACNA1E_ENST00000367567.4_Silent_p.D797D|CACNA1E_ENST00000357570.5_Silent_p.D1141D|CACNA1E_ENST00000367573.2_Silent_p.D1190D|CACNA1E_ENST00000358338.5_Silent_p.D1122D NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1190 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GGTATTTTGACTATGTGTTCA 0.478000 7 199 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9058837 9058837 + Missense_Mutation SNP G G T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr19:9058837G>T ENST00000397910.4 - 3 28812 c.28609C>A c.(28609-28611)Cca>Aca p.P9537T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9539 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGAAGCCTGGGGAAGAGGAA 0.483000 7 57 0.000157383 0.000165352 1 1 0 SLC2A10 81031 broad.mit.edu 37 20 45354099 45354099 + Missense_Mutation SNP G G A TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr20:45354099G>A ENST00000359271.2 + 2 674 c.424G>A c.(424-426)Ggc>Agc p.G142S NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 142 G -> V (in ATS). endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) CTATGAGGCAGGCATCACCGT 0.622000 6 143 0 0 1 0 0 RPUSD1 113000 broad.mit.edu 37 16 837405 837405 + Silent SNP G G A TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr16:837405G>A ENST00000561734.1 - 2 498 c.255C>T c.(253-255)agC>agT p.S85S RPUSD1_ENST00000567114.1_5'UTR|RPUSD1_ENST00000007264.2_Silent_p.S85S|RPUSD1_ENST00000565809.1_Silent_p.S85S Q9UJJ7 RUSD1_HUMAN RNA pseudouridylate synthase domain containing 1 85 pseudouridine synthesis pseudouridine synthase activity|RNA binding endometrium(3)|lung(2)|skin(2) 7 Hepatocellular(780;0.00335) ACCTGTACGCGCTGCCGGCGG 0.632000 2 3 0 0 1 0 0 DEGS1 8560 broad.mit.edu 37 1 224377867 224377867 + Missense_Mutation SNP C C T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr1:224377867C>T ENST00000323699.4 + 2 837 c.671C>T c.(670-672)cCa>cTa p.P224L DEGS1_ENST00000391877.3_Missense_Mutation_p.P224L NM_003676.3 NP_003667.1 O15121 DEGS1_HUMAN delta(4)-desaturase, sphingolipid 1 224 sphingolipid metabolic process|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity breast(1)|kidney(3)|large_intestine(2)|lung(4) 10 Breast(184;0.193) GBM - Glioblastoma multiforme(131;0.00643) GGTTTGCACCCAATTTCTGGA 0.373000 6 135 0 0 1 0 0 MLF1IP 0 broad.mit.edu 37 4 185650178 185650178 + Silent SNP T T C TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr4:185650178T>C ENST00000281453.5 - 3 178 c.108A>G c.(106-108)caA>caG p.Q36Q MLF1IP_ENST00000541971.1_Silent_p.Q36Q NM_024629.3 NP_078905.2 Q71F23 CENPU_HUMAN 36 CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1) 13 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146) all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419) GCTTGCACTTTTGACCAGCTT 0.373000 6 44 0 0 1 0 0 CCNB3 85417 broad.mit.edu 37 X 50051784 50051784 + Silent SNP G G A TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chrX:50051784G>A ENST00000376042.1 + 6 913 c.615G>A c.(613-615)gcG>gcA p.A205A CCNB3_ENST00000276014.7_Silent_p.A205A|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron Q8WWL7 CCNB3_HUMAN cyclin B3 205 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) GTGATGATGCGTTTGTTATAG 0.408000 30 44 0 0 1 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32929682 32929682 + Missense_Mutation SNP A A G TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr15:32929682A>G ENST00000361627.3 + 12 3430 c.2708A>G c.(2707-2709)cAg>cGg p.Q903R ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.Q714R|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.Q714R NM_014783.3 NP_055598.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 903 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) CCTAAAGAACAGAAGTCCATG 0.398000 39 49 0 0 1 0 0 LRAT 9227 broad.mit.edu 37 4 155665633 155665633 + Missense_Mutation SNP A A G TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr4:155665633A>G ENST00000336356.3 + 2 408 c.155A>G c.(154-156)gAg>gGg p.E52G LRAT_ENST00000507827.1_Missense_Mutation_p.E52G NM_004744.3 NP_004735.2 O95237 LRAT_HUMAN lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) 52 response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum phosphatidylcholine-retinol O-acyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9) 16 all_hematologic(180;0.215) Renal(120;0.0458) Vitamin A(DB00162) GACGTGCTGGAGGTGCCCCGG 0.572000 4 103 0 0 1 0 0 ZCCHC12 170261 broad.mit.edu 37 X 117959418 117959418 + Missense_Mutation SNP G G A TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chrX:117959418G>A ENST00000310164.2 + 4 718 c.211G>A c.(211-213)Gtc>Atc p.V71I NM_173798.2 NP_776159.1 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 71 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding p.V71I(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 22 agtcaatggcgtcctgccaga 0.557000 56 32 0 0 1 0 0 PRR23B 389151 broad.mit.edu 37 3 138738764 138738764 + Missense_Mutation SNP C C T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr3:138738764C>T ENST00000329447.5 - 1 1004 c.740G>A c.(739-741)cGc>cAc p.R247H MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 247 Pro-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GAGCGGCGAGCGCGCGTGGGG 0.657000 6 18 0 0 1 0 0 ZNF442 79973 broad.mit.edu 37 19 12461542 12461542 + Missense_Mutation SNP G G T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr19:12461542G>T ENST00000242804.4 - 6 1439 c.857C>A c.(856-858)aCt>aAt p.T286N ZNF442_ENST00000438182.1_Missense_Mutation_p.T217N NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 286 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 TCCAGTGTGAGTTCTTTCATG 0.413000 10 131 7.03913e-09 7.58763e-09 1 1 0 DSP 1832 broad.mit.edu 37 6 7583354 7583354 + Silent SNP C C A TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr6:7583354C>A ENST00000379802.3 + 24 6200 c.5859C>A c.(5857-5859)acC>acA p.T1953T DSP_ENST00000418664.2_Silent_p.T1354T NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1953 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) ATCGAGAGACCCAGACTGAGT 0.522000 29 32 1.30897e-18 1.46817e-18 1 1 0 VGLL4 9686 broad.mit.edu 37 3 11600050 11600050 + Missense_Mutation SNP A A G TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr3:11600050A>G ENST00000273038.3 - 6 1218 c.853T>C c.(853-855)Tcc>Ccc p.S285P VGLL4_ENST00000430365.2_Missense_Mutation_p.S291P|VGLL4_ENST00000451674.2_Missense_Mutation_p.S205P|VGLL4_ENST00000413604.1_Missense_Mutation_p.S226P|VGLL4_ENST00000404339.1_Missense_Mutation_p.S290P|VGLL4_ENST00000424529.2_Missense_Mutation_p.S201P NM_014667.2 NP_055482.2 Q14135 VGLL4_HUMAN vestigial like 4 (Drosophila) 285 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111) ACAGAGGGGGAGTGACTGTGG 0.577000 3 73 0 0 1 0 0 IGHV3-48 0 broad.mit.edu 37 14 106994102 106994102 + RNA SNP C C A TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr14:106994102C>A ENST00000390624.2 - 0 141 CCACCAGCTGCACCTCACACT 0.517000 33 138 1.67305e-13 1.85151e-13 1 1 0 SAA2 6289 broad.mit.edu 37 11 18269491 18269491 + Missense_Mutation SNP G G A TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr11:18269491G>A ENST00000414546.2 - 2 112 c.68C>T c.(67-69)tCg>tTg p.S23L SAA2_ENST00000256733.4_Missense_Mutation_p.S23L|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000530400.1_Missense_Mutation_p.S23L|SAA2_ENST00000529528.1_Missense_Mutation_p.S23L|SAA2_ENST00000528349.1_Missense_Mutation_p.S23L|SAA2_ENST00000526900.1_Missense_Mutation_p.S23L NM_001127380.2 NP_001120852.1 serum amyloid A2 central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1) 6 GCCAAGGAACGAAAAGAAGCT 0.498000 27 37 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69005869 69005869 + Missense_Mutation SNP C C A TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr8:69005869C>A ENST00000288368.4 + 21 2557 c.2280C>A c.(2278-2280)agC>agA p.S760R PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 760 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TTTATAATAGCATTGAGAGTG 0.423000 46 91 8.72198e-27 1.01961e-26 1 1 0 TOP2B 7155 broad.mit.edu 37 3 25675377 25675377 + Silent SNP T T C TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr3:25675377T>C ENST00000435706.2 - 8 1167 c.966A>G c.(964-966)aaA>aaG p.K322K TOP2B_ENST00000264331.4_Silent_p.K327K Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa 327 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 GCTGGAATCCTTTTTCACTCA 0.348000 3 142 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28934739 28934739 + Silent SNP A A G TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr18:28934739A>G ENST00000257192.4 + 15 2792 c.2580A>G c.(2578-2580)tcA>tcG p.S860S RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Silent_p.S219S|RP11-534N16.1_ENST00000581452.1_RNA NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 860 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) GACCAGCATCAAACGTGGTAG 0.512000 17 182 0 0 1 0 0 HGF 3082 broad.mit.edu 37 7 81372731 81372731 + Missense_Mutation SNP C C T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr7:81372731C>T ENST00000222390.5 - 7 1029 c.803G>A c.(802-804)aGg>aAg p.R268K HGF_ENST00000453411.1_Missense_Mutation_p.R263K|HGF_ENST00000444829.2_Missense_Mutation_p.R268K|HGF_ENST00000457544.2_Missense_Mutation_p.R263K NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 268 Kringle 2. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 GCACCATGGCCTCGGCTGGCC 0.473000 46 41 0 0 1 0 0 MED23 9439 broad.mit.edu 37 6 131917229 131917229 + Silent SNP A A G TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr6:131917229A>G ENST00000403834.3 - 22 3044 c.2871T>C c.(2869-2871)taT>taC p.Y957Y MED23_ENST00000368068.3_Silent_p.Y951Y|MED23_ENST00000545957.1_Silent_p.Y592Y|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368058.1_Silent_p.Y957Y|MED23_ENST00000368060.3_Silent_p.Y951Y|MED23_ENST00000354577.4_Silent_p.Y957Y Q9ULK4 MED23_HUMAN mediator complex subunit 23 951 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) AGATGGGCAGATAGGGAGACT 0.423000 18 132 0 0 1 0 0 FAM90A1 55138 broad.mit.edu 37 12 8376782 8376782 + Silent SNP G G A rs77163560 TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr12:8376782G>A ENST00000538603.1 - 5 711 c.153C>T c.(151-153)ggC>ggT p.G51G FAM90A1_ENST00000307435.6_Silent_p.G51G NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 51 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) TGGCCGTGTGGCCAAAGGCCT 0.537000 38 46 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34091287 34091287 + Missense_Mutation SNP G G A rs142095721 TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr20:34091287G>A ENST00000397527.1 + 30 5810 c.5090G>A c.(5089-5091)cGg>cAg p.R1697Q CEP250_ENST00000342580.4_Missense_Mutation_p.R1641Q NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1697 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GAGCGAGGCCGGGAGCTGACC 0.587000 3 110 0 0 1 0 0 CSF2RA 0 broad.mit.edu 37 X 1409322 1409322 + Missense_Mutation SNP G G A rs147180621 byFrequency TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chrX:1409322G>A ENST00000381524.3 + 7 752 c.566G>A c.(565-567)cGc>cAc p.R189H CSF2RA_ENST00000361536.3_Missense_Mutation_p.R189H|CSF2RA_ENST00000501036.2_Missense_Mutation_p.R56H|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R189H|CSF2RA_ENST00000432318.2_Missense_Mutation_p.R189H|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R189H|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R189H|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R189H|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R189H|CSF2RA_ENST00000355805.2_Missense_Mutation_p.R189H P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 189 extracellular region|integral to plasma membrane cytokine receptor activity p.R189H(2) central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) TTAACGTCTCGCAATTACTTT 0.423000 88 178 0 0 1 0 0 ATXN3L 92552 broad.mit.edu 37 X 13337542 13337542 + Missense_Mutation SNP T T C TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chrX:13337542T>C ENST00000380622.2 - 1 976 c.512A>G c.(511-513)gAc>gGc p.D171G GS1-600G8.3_ENST00000431486.1_RNA NM_001135995.1 NP_001129467.1 Q9H3M9 ATX3L_HUMAN ataxin 3-like 171 Josephin. protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 AGCTTCACAGTCTGGCAGATC 0.393000 30 49 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248525565 248525565 + Missense_Mutation SNP A A T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr1:248525565A>T ENST00000366475.1 + 1 683 c.683A>T c.(682-684)gAg>gTg p.E228V NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|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;0.0265) TCACTCTATGAGATTTTCATG 0.478000 57 167 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150945298 150945298 + Silent SNP C C T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr5:150945298C>T ENST00000261800.5 - 1 3207 c.3195G>A c.(3193-3195)ggG>ggA p.G1065G NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 1065 Cadherin 9. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACTGGAGCTCCCCATCCAAGC 0.617000 3 54 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32632600 32632600 + Missense_Mutation SNP T T C TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr9:32632600T>C ENST00000242310.4 - 1 3067 c.2978A>G c.(2977-2979)cAg>cGg p.Q993R NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 993 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) ATCCTTCTGCTGTGTTGGTTT 0.493000 3 116 0 0 1 0 0 UNC45B 146862 broad.mit.edu 37 17 33495136 33495136 + Missense_Mutation SNP C C T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr17:33495136C>T ENST00000268876.5 + 10 1305 c.1208C>T c.(1207-1209)tCa>tTa p.S403L UNC45B_ENST00000394570.2_Missense_Mutation_p.S403L|UNC45B_ENST00000378449.1_Missense_Mutation_p.S403L|UNC45B_ENST00000591048.1_Missense_Mutation_p.S403L|UNC45B_ENST00000433649.1_Missense_Mutation_p.S403L NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 403 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) CAGACAGTGTCAGGGATCCTG 0.547000 35 64 0 0 1 0 0 ZBTB39 9880 broad.mit.edu 37 12 57398076 57398076 + Missense_Mutation SNP G G A TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr12:57398076G>A ENST00000300101.2 - 2 711 c.626C>T c.(625-627)aCa>aTa p.T209I NM_014830.2 NP_055645.1 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 209 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1) 16 ATGGTCTTCTGTCTTTGGCGG 0.572000 14 83 0 0 1 0 0 POLR3A 11128 broad.mit.edu 37 10 79773462 79773462 + Missense_Mutation SNP G G T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr10:79773462G>T ENST00000372371.3 - 11 1655 c.1518C>A c.(1516-1518)aaC>aaA p.N506K POLR3A_ENST00000484760.1_5'UTR NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 506 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) GAAGATGAAGGTTCATTTCAT 0.478000 45 71 2.43468e-25 2.80665e-25 1 1 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 12 0 0 1 0 0 BFSP2 8419 broad.mit.edu 37 3 133191307 133191307 + Missense_Mutation SNP C C T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr3:133191307C>T ENST00000302334.2 + 6 1231 c.1142C>T c.(1141-1143)gCg>gTg p.A381V BFSP2_ENST00000511434.1_3'UTR NM_003571.2 NP_003562.1 Q13515 BFSP2_HUMAN beaded filament structural protein 2, phakinin 381 Rod. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 CGAGCGGAGGCGGAGCAGCAG 0.667000 16 25 0 0 1 0 0 GLRA1 2741 broad.mit.edu 37 5 151239373 151239373 + Missense_Mutation SNP C C T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr5:151239373C>T ENST00000274576.4 - 4 741 c.449G>A c.(448-450)cGg>cAg p.R150Q GLRA1_ENST00000455880.2_Missense_Mutation_p.R150Q|GLRA1_ENST00000545569.1_Missense_Mutation_p.R67Q|GLRA1_ENST00000471351.2_5'UTR NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 150 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity p.R150Q(1) breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ATTCCCATTCCGGGAGATCCT 0.522000 21 38 0 0 1 0 0 CASK 8573 broad.mit.edu 37 X 41393959 41393959 + Splice_Site SNP G G T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chrX:41393959G>T ENST00000318588.9 - 24 2347 c.2302_splice c.e24+1 p.H768_splice CASK_ENST00000378158.1_Splice_Site_p.H756_splice|CASK_ENST00000378163.1_Splice_Site_p.H773_splice|CASK_ENST00000378166.4_Splice_Site_p.H768_splice|CASK_ENST00000361962.4_Splice_Site_p.H756_splice|CASK_ENST00000442742.2_Splice_Site_p.H745_splice|CASK_ENST00000421587.2_Splice_Site_p.H744_splice O14936 CSKP_HUMAN calcium/calmodulin-dependent serine protein kinase (MAGUK family) 773 Guanylate kinase-like. cell adhesion actin cytoskeleton|cytoplasm|nucleus|plasma membrane ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1) 32 CATTGCTTACGTGGAATAGGG 0.338000 40 51 4.44401e-20 5.05278e-20 1 1 0 NLRP14 338323 broad.mit.edu 37 11 7081199 7081199 + Missense_Mutation SNP C C T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr11:7081199C>T ENST00000299481.4 + 9 3054 c.2708C>T c.(2707-2709)aCg>aTg p.T903M NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 903 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) AAGAGCCTGACGCATCTGGAT 0.453000 14 151 0 0 1 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1797211 1797211 + Missense_Mutation SNP G G T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr16:1797211G>T ENST00000250894.4 + 6 1083 c.926G>T c.(925-927)cGg>cTg p.R309L MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R309L|MAPK8IP3_ENST00000568271.1_3'UTR NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 309 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 AAGCGTGCCCGGGAGAAGCGC 0.662000 24 39 1.42536e-11 1.55664e-11 1 1 0 PLXND1 23129 broad.mit.edu 37 3 129290353 129290353 + Splice_Site SNP G G A rs146029556 TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr3:129290353G>A ENST00000393239.1 - 17 3513 c.3336_splice c.e17+1 p.T1112_splice PLXND1_ENST00000324093.4_Splice_Site_p.T1112_splice Q9Y4D7 PLXD1_HUMAN plexin D1 1112 IPT/TIG 3. axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 ATGCCTCACCGTGGGCTCCCG 0.662000 23 35 0 0 1 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373329 86373329 + Missense_Mutation SNP A A T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr12:86373329A>T ENST00000604798.1 - 8 2379 c.1175T>A c.(1174-1176)aTt>aAt p.I392N MGAT4C_ENST00000552808.2_Missense_Mutation_p.I392N|MGAT4C_ENST00000548651.1_Missense_Mutation_p.I392N|MGAT4C_ENST00000393205.2_Missense_Mutation_p.I421N|MGAT4C_ENST00000549405.2_Missense_Mutation_p.I392N|MGAT4C_ENST00000332156.1_Missense_Mutation_p.I392N Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 392 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 ATTTACtttaattttttttat 0.353000 6 24 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 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 42 50 0 0 1 0 0 D2HGDH 728294 broad.mit.edu 37 2 242707146 242707146 + Missense_Mutation SNP A A G rs149519095 by1000genomes TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr2:242707146A>G ENST00000321264.4 + 10 1537 c.1328A>G c.(1327-1329)aAt>aGt p.N443S D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.N309S NM_152783.3 NP_689996.4 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase 443 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) CTGCACCTCAATGTGACGGCG 0.697000 35 51 0 0 1 0 0 C16orf86 388284 broad.mit.edu 37 16 67701892 67701892 + Silent SNP A A G TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr16:67701892A>G ENST00000403458.4 + 3 599 c.444A>G c.(442-444)ccA>ccG p.P148P C16orf86_ENST00000602974.1_3'UTR NM_001012984.2 NP_001013002.2 Q6ZW13 CP086_HUMAN chromosome 16 open reading frame 86 148 endometrium(2)|lung(4) 6 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) AGCCCTCACCATCTGCCAAAC 0.607000 OREG0023886 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 29 0 0 1 0 0 LIG3 3980 broad.mit.edu 37 17 33328319 33328319 + Missense_Mutation SNP C C T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr17:33328319C>T ENST00000378526.4 + 17 2508 c.2375C>T c.(2374-2376)tCg>tTg p.S792L LIG3_ENST00000262327.5_Missense_Mutation_p.S792L NM_013975.3 NP_039269.2 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent 792 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) TTCTCCAAATCGGAGGCTCAT 0.532000 Other BER factors 20 32 0 0 1 0 0 SLC37A3 84255 broad.mit.edu 37 7 140055533 140055533 + Missense_Mutation SNP A A G TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr7:140055533A>G ENST00000326232.9 - 7 756 c.553T>C c.(553-555)Tgt>Cgt p.C185R SLC37A3_ENST00000429996.2_Missense_Mutation_p.L136P|SLC37A3_ENST00000340308.3_Missense_Mutation_p.C185R|SLC37A3_ENST00000447932.2_Missense_Mutation_p.C185R NM_207113.1 NP_996996.1 Q8NCC5 SPX3_HUMAN solute carrier family 37, member 3 185 carbohydrate transport|transmembrane transport integral to membrane endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3) 24 Melanoma(164;0.0142) ACCGAAGCACAGGCACTCCAG 0.473000 3 82 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22155320 22155320 + Missense_Mutation SNP C C T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr19:22155320C>T ENST00000397126.4 - 4 2664 c.2516G>A c.(2515-2517)gGc>gAc p.G839D ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) AAAGGCTTTGCCACATTCTTT 0.373000 28 21 0 0 1 0 0 ANKRD20A5P 0 broad.mit.edu 37 18 14179433 14179433 + RNA SNP G G C TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr18:14179433G>C ENST00000581935.1 + 0 338 lung(3) 3 GGGCCAGACGGTCCTGGGCTC 0.602000 4 11 0 0 1 0 0 TNRC6C 57690 broad.mit.edu 37 17 76094488 76094488 + Silent SNP G G T rs145461604 by1000genomes TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr17:76094488G>T ENST00000335749.4 + 18 5048 c.4479G>T c.(4477-4479)ctG>ctT p.L1493L TNRC6C_ENST00000588847.1_Silent_p.L1493L|TNRC6C_ENST00000301624.4_Silent_p.L1457L|TNRC6C_ENST00000544502.1_Silent_p.L1493L|TNRC6C_ENST00000588061.1_Silent_p.L1457L|TNRC6C_ENST00000541771.1_Silent_p.L1457L NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 1457 Sufficient for translational repression when tethered to a target mRNA. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) AAGCCTCTCTGTCTCATGAAC 0.557000 17 17 8.34094e-07 8.87561e-07 1 1 0 CHRNB3 1142 broad.mit.edu 37 8 42587448 42587448 + Missense_Mutation SNP C C T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr8:42587448C>T ENST00000289957.2 + 5 1126 c.998C>T c.(997-999)cCc>cTc p.P333L NM_000749.3 NP_000740.1 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 3 (neuronal) 333 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) CCCATGGCCCCCTGGGTTAAG 0.458000 7 175 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1101611 1101611 + Missense_Mutation SNP G G A TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr11:1101611G>A ENST00000441003.2 + 42 7651 c.7624G>A c.(7624-7626)Gaa>Aaa p.E2542K NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4904 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GCTGGGATTCGAAGTGAAGAG 0.642000 72 74 0 0 1 0 0 SERPINB2 5055 broad.mit.edu 37 18 61570518 61570518 + Silent SNP C C T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr18:61570518C>T ENST00000457692.1 + 9 1560 c.1227C>T c.(1225-1227)ttC>ttT p.F409F SERPINB2_ENST00000299502.4_Silent_p.F409F NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 409 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) TTTTATTTTTCGGCAGATTTT 0.388000 34 42 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681273 100681273 + Silent SNP G G T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr7:100681273G>T ENST00000306151.4 + 3 6640 c.6576G>T c.(6574-6576)gtG>gtT p.V2192V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2192 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCACACCTGTGACCAATTCTA 0.488000 9 553 0.0809354 0.0829338 1 1 0 TMEM71 137835 broad.mit.edu 37 8 133764099 133764099 + Silent SNP G G A TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr8:133764099G>A ENST00000356838.3 - 4 388 c.246C>T c.(244-246)tgC>tgT p.C82C TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Silent_p.C82C|TMEM71_ENST00000523829.1_Silent_p.C82C NM_144649.2 NP_653250.2 Q6P5X7 TMM71_HUMAN transmembrane protein 71 82 integral to membrane p.C82C(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) CATCTTTGTCGCACAGGAAGC 0.468000 65 94 0 0 1 0 0 NDST1 3340 broad.mit.edu 37 5 149927941 149927941 + Silent SNP C C T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr5:149927941C>T ENST00000261797.6 + 12 2809 c.2307C>T c.(2305-2307)caC>caT p.H769H NDST1_ENST00000523767.1_Intron NM_001543.4 NP_001534.1 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 769 Heparan sulfate N-sulfotransferase 1. heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTGCCTATCACGCCAACCAGG 0.627000 18 32 0 0 1 0 0 FANK1 92565 broad.mit.edu 37 10 127668874 127668874 + Missense_Mutation SNP A A G TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr10:127668874A>G ENST00000368695.1 + 2 262 c.140A>G c.(139-141)gAc>gGc p.D47G FANK1_ENST00000449042.2_Missense_Mutation_p.D47G|FANK1_ENST00000368689.1_Missense_Mutation_p.D47G|FANK1_ENST00000368693.1_Missense_Mutation_p.D53G NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 53 Fibronectin type-III. cytoplasm|nucleus central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) GAAGAAGAAGACCCCAAAATG 0.428000 30 30 0 0 1 0 0 SEC14L1 6397 broad.mit.edu 37 17 75208130 75208130 + Silent SNP G G A TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr17:75208130G>A ENST00000413679.2 + 15 2013 c.1710G>A c.(1708-1710)tcG>tcA p.S570S SEC14L1_ENST00000430767.4_Silent_p.S570S|SEC14L1_ENST00000443798.4_Silent_p.S570S|SEC14L1_ENST00000392476.2_Silent_p.S570S|SEC14L1_ENST00000431431.2_Silent_p.S536S|SEC14L1_ENST00000585618.1_Silent_p.S570S|SEC14L1_ENST00000591437.1_Silent_p.S536S|SEC14L1_ENST00000436233.4_Silent_p.S570S NM_001143998.1|NM_001143999.1|NM_003003.3 NP_001137470.1|NP_001137471.1|NP_002994.3 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) 570 GOLD. transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 CCAAGAGGTCGCCACAACCAC 0.527000 125 195 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160053205 160053205 + Silent SNP T T C TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr2:160053205T>C ENST00000263635.6 + 18 3303 c.3066T>C c.(3064-3066)acT>acC p.T1022T TANC1_ENST00000454300.1_Silent_p.T916T NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 1022 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 ACCTGCTGACTTGTGAGTGGT 0.667000 55 65 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 130185196 130185196 + Silent SNP G G A TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr12:130185196G>A ENST00000422113.2 - 2 453 c.127C>T c.(127-129)Ctg>Ttg p.L43L NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 43 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TAGGTGGGCAGCAAGGAAAAC 0.557000 3 66 0 0 1 0 0 TALDO1 6888 broad.mit.edu 37 11 755990 755990 + Missense_Mutation SNP G G A TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr11:755990G>A ENST00000319006.3 + 2 362 c.209G>A c.(208-210)cGg>cAg p.R70Q TALDO1_ENST00000528097.1_Missense_Mutation_p.R70Q P37837 TALDO_HUMAN transaldolase 1 70 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2) 14 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712) GCCTATGGCCGGAAGCTGGGC 0.607000 3 30 0 0 1 0 0 PTPRJ 5795 broad.mit.edu 37 11 48149530 48149530 + Missense_Mutation SNP A A G TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr11:48149530A>G ENST00000418331.2 + 7 1644 c.1292A>G c.(1291-1293)aAc>aGc p.N431S PTPRJ_ENST00000440289.2_Missense_Mutation_p.N431S NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 431 Fibronectin type-III 4. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 ACCTTCTACAACATCACAGTG 0.577000 52 62 0 0 1 0 0 NPAT 4863 broad.mit.edu 37 11 108059894 108059894 + Silent SNP T T C TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr11:108059894T>C ENST00000278612.8 - 6 600 c.495A>G c.(493-495)tcA>tcG p.S165S NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 165 Interaction with MIZF. positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TCGATGGATCTGAAATTTGGC 0.413000 3 117 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86262400 86262400 + Missense_Mutation SNP A A C TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr15:86262400A>C ENST00000394518.2 + 23 6190 c.6095A>C c.(6094-6096)cAg>cCg p.Q2032P AKAP13_ENST00000361243.2_Missense_Mutation_p.Q2036P|AKAP13_ENST00000394510.2_Missense_Mutation_p.Q277P|AKAP13_ENST00000560579.1_3'UTR NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 2032 DH.|Interaction with ESR1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 CTTTTTGAGCAGCAGATGGTA 0.483000 22 33 0 0 1 0 0 KDM4B 23030 broad.mit.edu 37 19 5131427 5131427 + Silent SNP G G A TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr19:5131427G>A ENST00000159111.4 + 12 1874 c.1656G>A c.(1654-1656)gaG>gaA p.E552E KDM4B_ENST00000536461.1_Silent_p.E586E NM_015015.2 NP_055830.1 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 552 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 AGGCCTTTGAGCACTTTGCCC 0.657000 16 39 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52420205 52420205 + Silent SNP G G A TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr3:52420205G>A ENST00000420323.2 + 55 8916 c.8655G>A c.(8653-8655)cgG>cgA p.R2885R NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2885 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGGAGACCCGGAATTCAGTGC 0.557000 6 5 0 0 1 0 0 THBS4 7060 broad.mit.edu 37 5 79335903 79335903 + Missense_Mutation SNP T T G TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr5:79335903T>G ENST00000350881.2 + 2 282 c.92T>G c.(91-93)tTt>tGt p.F31C THBS4_ENST00000511733.1_5'UTR NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 31 TSP N-terminal. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) TTCCCAGTCTTTGACCTTCTC 0.493000 52 66 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56827689 56827689 + Missense_Mutation SNP C C G TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr12:56827689C>G ENST00000229201.4 - 3 273 c.119G>C c.(118-120)cGc>cCc p.R40P TIMELESS_ENST00000553532.1_Missense_Mutation_p.R40P|TIMELESS_ENST00000554616.1_Missense_Mutation_p.R40P NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 40 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 CCTCAAATAGCGGATCAGATC 0.542000 15 147 0 0 1 0 0 DPEP2 64174 broad.mit.edu 37 16 68026419 68026419 + Silent SNP G G A rs151283462 TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr16:68026419G>A ENST00000412757.2 - 4 1049 c.384C>T c.(382-384)ggC>ggT p.G128G DPEP2_ENST00000572888.1_Silent_p.G128G|DPEP2_ENST00000393847.1_Silent_p.G128G Q9H4A9 DPEP2_HUMAN dipeptidase 2 128 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) GTACCTGGGCGCCCACGAGGC 0.567000 44 62 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr1:186276981A>G ENST00000445192.2 + 7 2175 c.2130A>G c.(2128-2130)aaA>aaG p.K710K PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 710 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTACCCCTAAAGGGACTGCTC 0.582000 3 114 0 0 1 0 0 UGGT2 55757 broad.mit.edu 37 13 96675958 96675958 + Missense_Mutation SNP G G T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr13:96675958G>T ENST00000376747.3 - 3 367 c.297C>A c.(295-297)gaC>gaA p.D99E UGGT2_ENST00000397618.3_Missense_Mutation_p.D99E|UGGT2_ENST00000376714.3_Missense_Mutation_p.D99E|UGGT2_ENST00000376712.4_Missense_Mutation_p.D99E NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 99 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TGTGTAAATTGTCTAGAAACT 0.318000 3 67 0.004672 0.0048472 1 1 0 ZMIZ2 83637 broad.mit.edu 37 7 44799776 44799776 + Silent SNP C C T TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr7:44799776C>T ENST00000309315.4 + 8 1143 c.1020C>T c.(1018-1020)ggC>ggT p.G340G ZMIZ2_ENST00000441627.1_Silent_p.G340G|ZMIZ2_ENST00000433667.1_Silent_p.G308G|ZMIZ2_ENST00000413916.1_Intron|ZMIZ2_ENST00000265346.7_Intron NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 340 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 ACGGGCAGGGCGCCAGCTTCA 0.687000 8 55 0 0 1 0 0 KLHDC10 23008 broad.mit.edu 37 7 129710591 129710591 + Silent SNP T T G TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr7:129710591T>G ENST00000335420.5 + 1 242 c.108T>G c.(106-108)ggT>ggG p.G36G NM_014997.3 NP_055812.1 Q6PID8 KLD10_HUMAN kelch domain containing 10 36 Gly-rich. breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1) 17 gcagcgggggtcgggggACTG 0.766000 5 18 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361507 70361507 + Missense_Mutation SNP T T C TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr4:70361507T>C ENST00000305107.6 - 1 119 c.73A>G c.(73-75)Aag>Gag p.K25E UGT2B4_ENST00000512583.1_Missense_Mutation_p.K25E|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 25 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 ACCAGCACCTTTCCACAACTC 0.458000 4 179 0 0 1 0 0 SERPINA12 145264 broad.mit.edu 37 14 94964687 94964687 + Silent SNP C C A rs144330691 TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr14:94964687C>A ENST00000341228.2 - 3 843 c.48G>T c.(46-48)acG>acT p.T16T SERPINA12_ENST00000556881.1_Silent_p.T16T NM_173850.2 NP_776249.1 Q8IW75 SPA12_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 16 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) GACCTTTCACCGTGAGGAGAA 0.468000 3 83 0.115264 0.11667 1 1 0 ERBB2IP 55914 broad.mit.edu 37 5 65338967 65338967 + Silent SNP C C A TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr5:65338967C>A ENST00000284037.5 + 16 1758 c.1369C>A c.(1369-1371)Cgg>Agg p.R457R ERBB2IP_ENST00000511297.1_Silent_p.R457R|ERBB2IP_ENST00000380939.2_Silent_p.R457R|ERBB2IP_ENST00000508515.1_Silent_p.R457R|ERBB2IP_ENST00000380936.1_Silent_p.R457R|ERBB2IP_ENST00000380935.1_Silent_p.R457R|ERBB2IP_ENST00000506030.1_Silent_p.R457R|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380943.2_Silent_p.R457R|ERBB2IP_ENST00000380938.2_Silent_p.R457R NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 457 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) GAGGAAACAGCGGGCTCAAGT 0.353000 3 66 1 1 1 1 0 DENND5B 160518 broad.mit.edu 37 12 31605201 31605201 + Silent SNP G G A TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr12:31605201G>A ENST00000389082.5 - 5 1566 c.1302C>T c.(1300-1302)aaC>aaT p.N434N DENND5B_ENST00000306833.6_Silent_p.N469N|DENND5B_ENST00000354285.4_Silent_p.N456N|DENND5B_ENST00000536562.1_Silent_p.N469N NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 434 N -> D (in Ref. 4; AAH68580). integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 AGACATTGCCGTTCTTTTTGT 0.468000 4 155 0 0 1 0 0 CEP128 145508 broad.mit.edu 37 14 81380710 81380710 + Nonsense_Mutation SNP G G A TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr14:81380710G>A ENST00000555265.1 - 4 565 c.190C>T c.(190-192)Cga>Tga p.R64* CEP128_ENST00000216517.6_Nonsense_Mutation_p.R64*|CEP128_ENST00000281129.3_Nonsense_Mutation_p.R64*|CEP128_ENST00000327841.2_Nonsense_Mutation_p.R4* Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 64 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 TCTCGGTATCGTCCAAGCATC 0.403000 5 158 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21097453 21097453 + Missense_Mutation SNP G G A rs143149169 TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr10:21097453G>A ENST00000377122.4 - 26 3143 c.2747C>T c.(2746-2748)cCg>cTg p.P916L NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 916 Linker. regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TTCATCAGACGGTCTTGTTAC 0.408000 4 101 0 0 1 0 0 TAB1 10454 broad.mit.edu 37 22 39824142 39824142 + Missense_Mutation SNP G G A TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr22:39824142G>A ENST00000216160.6 + 10 1323 c.1261G>A c.(1261-1263)Gct>Act p.A421T TAB1_ENST00000331454.3_Missense_Mutation_p.A421T NM_006116.2 NP_006107.1 Q15750 TAB1_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 1 421 activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 GGTCAACGGGGCTCACAGTGC 0.642000 10 95 0 0 1 0 0 MAGEE1 57692 broad.mit.edu 37 X 75649858 75649858 + Missense_Mutation SNP T T C TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chrX:75649858T>C ENST00000361470.2 + 1 1813 c.1535T>C c.(1534-1536)aTc>aCc p.I512T NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 512 MAGE 1. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 AAGTACCCTATCCGGGAGTCT 0.502000 29 62 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9887155 9887155 + Missense_Mutation SNP A A G TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr18:9887155A>G ENST00000306084.6 + 2 878 c.679A>G c.(679-681)Acc>Gcc p.T227A TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.T160A NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 227 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 TATTGCCAAGACCTCAGTGAA 0.562000 6 188 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78433338 78433339 + Frame_Shift_Del DEL TG TG - TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr1:78433338_78433339delTG ENST00000370767.1 - 4 349_350 c.262_263delCA c.(262-264)gfs p.Q88fs FUBP1_ENST00000370768.2_Frame_Shift_Del_p.Q88fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.Q109fs Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 88 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 CGGTGGTAACTGTGTTCCAAAA 0.282 """F, N""" oligodendroglioma 35 5 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152324558 152324559 + Frame_Shift_Del DEL TG TG - rs140875805 byFrequency TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr1:152324558_152324559delTG ENST00000388718.5 - 3 5775_5776 c.5703_5704delCA c.(5701-5706)cagcfs p.HS1901fs FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1901 calcium ion binding|structural molecule activity p.H1901fs*30(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCTTGGCTGTGTGTGTGTC 0.515 7 476 --- --- --- --- FAM168B 130074 broad.mit.edu 37 2 131813195 131813197 + In_Frame_Del DEL GGA GGA - TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr2:131813195_131813197delGGA ENST00000409185.1 - 4 333_335 c.226_228delTCC c.(226-228)del p.S76del FAM168B_ENST00000389915.3_In_Frame_Del_p.S76del NM_001009993.2 NP_001009993.2 A1KXE4 F168B_HUMAN family with sequence similarity 168, member B 76 endometrium(3)|lung(2) 5 AGGGGTTCGGGGAGGAGGAGTAC 0.586 7 125 --- --- --- --- PBRM1 55193 broad.mit.edu 37 3 52661373 52661376 + Frame_Shift_Del DEL TCTT TCTT - TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr3:52661373_52661376delTCTT ENST00000356770.4 - 12 1360_1363 c.1358_1361delAAGA c.(1357-1362)agfs p.KE453fs PBRM1_ENST00000410007.1_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.KE485fs Q86U86 PB1_HUMAN polybromo 1 485 Bromo 3. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CCTGGCAAGCTCTTTCTTCTTTGC 0.422 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 27 22 --- --- --- --- PIK3CA 5290 broad.mit.edu 37 3 178916938 178916940 + In_Frame_Del DEL GAA GAA - TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 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) 39 57 --- --- --- --- WDFY3 23001 broad.mit.edu 37 4 85715705 85715708 + Frame_Shift_Del DEL CAAT CAAT - TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr4:85715705_85715708delCAAT ENST00000322366.6 - 21 3858_3861 c.3451_3454delATTG c.(3451-3456)ttfs p.IV1151fs WDFY3_ENST00000295888.4_Frame_Shift_Del_p.IV1151fs Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1151 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TTGGTGGAAACAATCAGAGATCGG 0.358 49 159 --- --- --- --- SAP30 8819 broad.mit.edu 37 4 174292617 174292619 + In_Frame_Del DEL AGA AGA - TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr4:174292617_174292619delAGA ENST00000296504.3 + 1 524_526 c.284_286delAGA c.(283-288)cag>c p.QK95del NM_003864.3 NP_003855.1 O75446 SAP30_HUMAN Sin3A-associated protein, 30kDa 95 Interaction with NCOR1 (By similarity). transcription, DNA-dependent histone deacetylase complex DNA binding|metal ion binding|protein binding|transcription corepressor activity large_intestine(1)|lung(2)|ovary(1) 4 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919) AGCATCTCCCAGAAGAAGGTGAA 0.675 22 50 --- --- --- --- DMXL1 1657 broad.mit.edu 37 5 118479596 118479598 + In_Frame_Del DEL ATT ATT - TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr5:118479596_118479598delATT ENST00000311085.8 + 14 2517_2519 c.2437_2439delATT c.(2437-2439)del p.I814del DMXL1_ENST00000539542.1_In_Frame_Del_p.I814del NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 814 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GCCAGGATGCATTATTGCATTAG 0.286 122 281 --- --- --- --- HSD17B4 3295 broad.mit.edu 37 5 118810104 118810106 + In_Frame_Del DEL GAA GAA - TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr5:118810104_118810106delGAA ENST00000504811.1 + 5 488_490 c.304_306delGAA c.(304-306)del p.E103del HSD17B4_ENST00000256216.6_In_Frame_Del_p.E78del|HSD17B4_ENST00000510025.1_In_Frame_Del_p.E54del|HSD17B4_ENST00000515320.1_In_Frame_Del_p.E60del|HSD17B4_ENST00000414835.2_5'UTR NM_001199291.1 NP_001186220.1 P51659 DHB4_HUMAN hydroxysteroid (17-beta) dehydrogenase 4 78 (3R)-hydroxyacyl-CoA dehydrogenase. bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity p.E77E(1) breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2) 25 all_cancers(142;0.0206)|Prostate(80;0.0322) OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122) NADH(DB00157) AGATTCAGTGGAAGAAGGAGAGA 0.419 79 120 --- --- --- --- CYFIP2 26999 broad.mit.edu 37 5 156746913 156746915 + In_Frame_Del DEL GAA GAA - TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr5:156746913_156746915delGAA ENST00000347377.6 + 14 1931_1933 c.1500_1502delGAA c.(1498-1503)cgg>cg p.RK500del CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_In_Frame_Del_p.RK174del|CYFIP2_ENST00000541131.1_In_Frame_Del_p.RK425del|CYFIP2_ENST00000522463.1_In_Frame_Del_p.RK304del|CYFIP2_ENST00000521420.1_In_Frame_Del_p.RK474del|CYFIP2_ENST00000377576.3_In_Frame_Del_p.RK500del|CYFIP2_ENST00000318218.6_In_Frame_Del_p.RK500del NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 500 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGGCGGTACGGAAGAAGAAGAAT 0.567 51 322 --- --- --- --- SLC44A4 80736 broad.mit.edu 37 6 31832672 31832674 + In_Frame_Del DEL AAG AAG - TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr6:31832672_31832674delAAG ENST00000544672.1 - 19 1913_1915 c.1617_1619delCTT c.(1615-1620)ttt>tt p.FF541del SLC44A4_ENST00000375562.4_In_Frame_Del_p.FF575del|SLC44A4_ENST00000229729.6_In_Frame_Del_p.FF617del NM_001178045.1 NP_001171516.1 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 617 integral to membrane|plasma membrane choline transmembrane transporter activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) GGAGAAAAAAAAGAAGGACAGGA 0.567 7 25 --- --- --- --- HDAC2 3066 broad.mit.edu 37 6 114277817 114277818 + Frame_Shift_Del DEL AA AA - TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr6:114277817_114277818delAA ENST00000519065.1 - 4 699_700 c.323_324delTT c.(322-324)tfs p.F108fs HDAC2_ENST00000398283.2_Frame_Shift_Del_p.F202fs|HDAC2_ENST00000519108.1_Frame_Shift_Del_p.F78fs|HDAC2_ENST00000368632.2_Frame_Shift_Del_p.F78fs Q92769 HDAC2_HUMAN histone deacetylase 2 108 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding p.F202fs*1(1)|p.F108fs*1(1) biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) GACAAAACTCAAAGAGTCCATC 0.361 16 87 --- --- --- --- TSPYL4 23270 broad.mit.edu 37 6 116574192 116574195 + Frame_Shift_Del DEL GAAA GAAA - TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr6:116574192_116574195delGAAA ENST00000420283.1 - 1 1066_1069 c.977_980delTTTC c.(976-981)ccfs p.LS326fs NM_021648.4 NP_067680.3 Q9UJ04 TSYL4_HUMAN TSPY-like 4 326 nucleosome assembly nucleus endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2) 11 all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234) all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125) GATTGGAGTGGAAAGAGACACCAC 0.525 8 75 --- --- --- --- CHN2 1124 broad.mit.edu 37 7 29519880 29519881 + Frame_Shift_Del DEL TT TT - TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr7:29519880_29519881delTT ENST00000409041.4 + 1 395_396 c.154_155delTT c.(154-156)tfs p.F52fs CHN2_ENST00000439711.2_Frame_Shift_Del_p.F52fs|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000421775.2_Frame_Shift_Del_p.F52fs|CHN2_ENST00000546235.1_Intron|CHN2_ENST00000539389.1_Intron|CHN2_ENST00000539406.1_Intron|CHN2_ENST00000495789.2_Intron|CHN2_ENST00000222792.6_Intron|CHN2_ENST00000424025.2_Intron NM_001039936.1 NP_001035025.1 P52757 CHIO_HUMAN chimerin 2 401 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2) 23 TCTCAAACTCTTTGCCTGTTCA 0.525 15 93 --- --- --- --- PAEP 5047 broad.mit.edu 37 9 138453690 138453690 + Frame_Shift_Del DEL G G - TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr9:138453690delG ENST00000479141.1 + 1 87 c.43delG c.(43-45)gtfs p.G15fs PAEP_ENST00000371766.2_Frame_Shift_Del_p.G15fs|PAEP_ENST00000277508.5_Frame_Shift_Del_p.G15fs NM_002571.2 NP_002562.2 P09466 PAEP_HUMAN progestagen-associated endometrial protein 15 multicellular organismal development extracellular region binding|transporter activity cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1) 6 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) CCTGGTCTGTGGTGTCCCGGC 0.667 2 4 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139412252 139412254 + In_Frame_Del DEL CGT CGT - TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr9:139412252_139412254delCGT ENST00000277541.6 - 8 1466_1468 c.1391_1393delACG c.(1390-1395)gcc>g p.DA464del NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 464 EGF-like 12; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AGGCAGGTGGCGTCGTTCTGGCA 0.665 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 25 132 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139413070 139413072 + In_Frame_Del DEL AGA AGA - TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr9:139413070_139413072delAGA ENST00000277541.6 - 6 1145_1147 c.1070_1072delTCT c.(1069-1074)tac>t p.FY357del NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 357 EGF-like 9; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.F357delF(4) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CACTCGCAGTAGAAGGAGGCCAC 0.655 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 10 20 --- --- --- --- RP11-324H6.5 0 broad.mit.edu 37 10 51814320 51814320 + RNA DEL A A - rs11306955 TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr10:51814320delA ENST00000456967.1 - 0 1657 NR_038275.1 AACTCTATTGAGAAAAACCTG 0.358 4 3 --- --- --- --- TCERG1L 256536 broad.mit.edu 37 10 132944858 132944861 + Frame_Shift_Del DEL CAGA CAGA - TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr10:132944858_132944861delCAGA ENST00000368642.4 - 7 1182_1185 c.1097_1100delTCTG c.(1096-1101)ggfs p.VW366fs NM_174937.3 NP_777597.2 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 366 WW 2. cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) GGGCTTCTCCCAGACAGACAGGTG 0.554 15 45 --- --- --- --- CREBZF 58487 broad.mit.edu 37 11 85375242 85375244 + In_Frame_Del DEL CTT CTT - TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr11:85375242_85375244delCTT ENST00000527447.1 - 1 902_904 c.676_678delAAG c.(676-678)del p.K226del CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000531515.1_Intron NM_001039618.2 NP_001034707.1 Q9NS37 ZHANG_HUMAN CREB/ATF bZIP transcription factor 226 negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.K226delK(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) TCACGTACTCCTTCTTCTTCAGT 0.665 OREG0021274 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 57 128 --- --- --- --- ITGB7 3695 broad.mit.edu 37 12 53586167 53586169 + In_Frame_Del DEL AAG AAG - TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr12:53586167_53586169delAAG ENST00000267082.5 - 14 2331_2333 c.2100_2102delCTT c.(2098-2103)ttg>tt p.FL700del ITGB7_ENST00000550743.2_In_Frame_Del_p.FL552del|ITGB7_ENST00000338737.4_In_Frame_Del_p.FL552del|ITGB7_ENST00000422257.3_In_Frame_Del_p.FL700del NM_000889.1 NP_000880.1 P26010 ITB7_HUMAN integrin, beta 7 700 cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ATCCTCCACCAAGAAGAAGAACA 0.567 42 125 --- --- --- --- ERBB3 2065 broad.mit.edu 37 12 56495375 56495377 + In_Frame_Del DEL GAA GAA - TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr12:56495375_56495377delGAA ENST00000267101.3 + 28 4005_4007 c.3565_3567delGAA c.(3565-3567)del p.E1191del RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000553131.1_In_Frame_Del_p.E432del|ERBB3_ENST00000415288.2_In_Frame_Del_p.E1132del|ERBB3_ENST00000450146.2_In_Frame_Del_p.E548del|ERBB3_ENST00000549832.1_In_Frame_Del_p.E311del NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 1191 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CCTGGGTACTGAAGAAGAAGATG 0.522 9 75 --- --- --- --- CLPX 10845 broad.mit.edu 37 15 65443196 65443198 + In_Frame_Del DEL CTT CTT - TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr15:65443196_65443198delCTT ENST00000300107.3 - 14 2053_2055 c.1865_1867delAAG c.(1864-1869)gga>g p.EG622del NM_006660.3 NP_006651.2 O76031 CLPX_HUMAN caseinolytic mitochondrial matrix peptidase chaperone subunit 622 protein folding|proteolysis involved in cellular protein catabolic process mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 16 CGGGGCCATCCTTCTTCTTCAAC 0.384 96 166 --- --- --- --- C17orf76-AS1 0 broad.mit.edu 37 17 16344635 16344636 + RNA INS - - TT TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr17:16344635_16344636insTT ENST00000475953.1 + 0 540 C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA NR_027667.1 CTGTGATTGACTGTCAGTTGGT 0.416 16 33 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42795593 42795594 + Frame_Shift_Del DEL TG TG - TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a6fa4e0-950d-443a-9b46-1c06afd74a00 f43e15d0-53eb-4076-81f8-e5c44e43b9d9 g.chr19:42795593_42795594delTG ENST00000572681.2 + 11 5468_5469 c.5400_5401delTG c.(5398-5403)tctafs p.SV1800fs CIC_ENST00000160740.3_Frame_Shift_Del_p.SV891fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.SV891fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 891 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) TCCTGCAGTCTGTACCCTCCGC 0.624 """Mis, F, S""" oligodendroglioma 49 12 --- --- --- ---