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 ZNF844 284391 broad.mit.edu 37 19 12187475 12187475 + Missense_Mutation SNP C C G TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr19:12187475C>G ENST00000439326.3 + 4 1715 c.1540C>G c.(1540-1542)Cat>Gat p.H514D ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 514 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H514D(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 AAAGCCTTCACATCTGCCTCA 0.408000 5 281 0 0 3.59834e-05 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 9 146 0 0 9.31168e-06 0 0 CELSR2 1952 broad.mit.edu 37 1 109812124 109812124 + Silent SNP C C T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:109812124C>T ENST00000271332.3 + 21 6952 c.6891C>T c.(6889-6891)gcC>gcT p.A2297A NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 2297 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TGCCCCGGGCCCTGGACAAAC 0.597000 66 201 0 0 2.47226e-05 0 0 ZNF878 729747 broad.mit.edu 37 19 12155673 12155673 + Missense_Mutation SNP A A C TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr19:12155673A>C ENST00000602107.1 - 5 683 c.684T>G c.(682-684)agT>agG p.S228R CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron C9JN71 ZN878_HUMAN zinc finger protein 878 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAAACTGAATGCTT 0.403000 8 1182 0 0 5.18039e-06 0 0 CHIT1 1118 broad.mit.edu 37 1 203194202 203194202 + Silent SNP G G A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:203194202G>A ENST00000367229.1 - 4 322 c.288C>T c.(286-288)atC>atT p.I96I CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Intron|CHIT1_ENST00000255427.3_Intron NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 96 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 TCCAGCCTCCGATGGCTAACA 0.562000 59 219 0 0 2.47226e-05 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 11 287 0 0 5.3912e-06 0 0 FTSJ3 117246 broad.mit.edu 37 17 61897290 61897290 + Missense_Mutation SNP C C T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr17:61897290C>T ENST00000427159.2 - 21 3061 c.2416G>A c.(2416-2418)Ggt>Agt p.G806S NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 806 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 CGGCCCACACCTTTTTTGGCT 0.532000 117 422 0 0 2.47226e-05 0 0 MCTP2 55784 broad.mit.edu 37 15 94945245 94945245 + Silent SNP C C T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr15:94945245C>T ENST00000357742.4 + 16 2082 c.2082C>T c.(2080-2082)ttC>ttT p.F694F MCTP2_ENST00000331706.4_Silent_p.F282F|MCTP2_ENST00000451018.3_Silent_p.F694F|MCTP2_ENST00000557742.1_Silent_p.F282F NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 694 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) CAATAGCATTCGCGGTAAGCT 0.383000 102 451 0 0 2.47226e-05 0 0 FAM8A1 51439 broad.mit.edu 37 6 17606162 17606162 + Nonsense_Mutation SNP C C T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr6:17606162C>T ENST00000259963.3 + 4 1070 c.1015C>T c.(1015-1017)Cga>Tga p.R339* NM_016255.2 NP_057339.1 Q9UBU6 FA8A1_HUMAN family with sequence similarity 8, member A1 339 RDD. integral to membrane endometrium(1)|large_intestine(2)|lung(3) 6 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.143) all cancers(50;0.176)|Epithelial(50;0.204) GCTGGGGCTTCGAGTTGTGAC 0.423000 6 323 0 0 3.86212e-05 0 0 OR6C76 390326 broad.mit.edu 37 12 55820043 55820043 + Missense_Mutation SNP A A C TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr12:55820043A>C ENST00000328314.3 + 1 6 c.6A>C c.(4-6)aaA>aaC p.K2N NM_001005183.1 NP_001005183.1 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, member 76 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CAGAAATGAAAAATAGAACAT 0.353000 18 311 0 0 2.27731e-05 0 0 CPEB3 22849 broad.mit.edu 37 10 93870858 93870858 + Nonsense_Mutation SNP G G T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr10:93870858G>T ENST00000412050.4 - 7 1593 c.1505C>A c.(1504-1506)tCa>tAa p.S502* CPEB3_ENST00000265997.4_Nonsense_Mutation_p.S516* NM_001178137.1 NP_001171608.1 Q8NE35 CPEB3_HUMAN cytoplasmic polyadenylation element binding protein 3 516 RRM 1. nucleotide binding|RNA binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0869) GGTGGGGCTTGACACACACAG 0.473000 11 625 3.45872e-05 0.00904506 3.45872e-05 1 0 C17orf97 400566 broad.mit.edu 37 17 263666 263666 + Silent SNP C C T rs111388956 TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr17:263666C>T ENST00000360127.6 + 2 1048 c.1032C>T c.(1030-1032)ggC>ggT p.G344G AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 374 20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. p.G344G(2) breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 CCCTCAAGGGCTTCCACCCCG 0.687000 12 271 0 0 2.17888e-05 0 0 SMIM21 284274 broad.mit.edu 37 18 73130763 73130763 + Missense_Mutation SNP T T C TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr18:73130763T>C ENST00000584508.1 - 2 356 c.238A>G c.(238-240)Agg>Ggg p.R80G SMIM21_ENST00000382638.3_Intron|SMIM21_ENST00000579022.1_Missense_Mutation_p.R80G|RP11-321M21.3_ENST00000579386.1_Intron|RP11-321M21.3_ENST00000578340.1_Intron small integral membrane protein 21 p.R80G(1) ctgttggcccttttccagtct 0.368000 5 501 0 0 2.0095e-06 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr12:25398285C>G ENST00000311936.3 - 2 225 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 80 277 0 0 2.47226e-05 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 6 225 0 0 2.0095e-06 0 0 SETMAR 6419 broad.mit.edu 37 3 4345079 4345079 + Missense_Mutation SNP A A G TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr3:4345079A>G ENST00000358065.4 + 1 92 c.25A>G c.(25-27)Aca>Gca p.T9A SETMAR_ENST00000430981.1_Missense_Mutation_p.T9A|SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Missense_Mutation_p.T9A NM_006515.3 NP_006506.3 Q53H47 SETMR_HUMAN SET domain and mariner transposase fusion gene 0 Histone-lysine N-methyltransferase. DNA integration|DNA repair|transposition, DNA-mediated chromosome|nucleus DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1) 9 Melanoma(143;0.0657) Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114) GGCAAAGACGACACGGCCTTG 0.647000 Chromatin Structure 12 37 0 0 9.31168e-06 0 0 LRRC4B 94030 broad.mit.edu 37 19 51021095 51021095 + Silent SNP G G T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr19:51021095G>T ENST00000599957.1 - 3 2072 c.1875C>A c.(1873-1875)ccC>ccA p.P625P LRRC4B_ENST00000389201.3_Silent_p.P625P Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 625 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) CCGAGGCGGCGGGCAGCTCGT 0.726000 39 107 2.19358e-23 6.60691e-21 2.86225e-05 1 0 COL27A1 85301 broad.mit.edu 37 9 116930332 116930332 + Missense_Mutation SNP G G A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr9:116930332G>A ENST00000356083.3 + 3 888 c.497G>A c.(496-498)cGc>cAc p.R166H NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 166 Laminin G-like.|TSP N-terminal. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CTCCGAGGCCGCACAGTCACT 0.692000 6 204 0 0 3.59834e-05 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 11 242 0 0 5.01169e-05 0 0 ZNF844 284391 broad.mit.edu 37 19 12187502 12187502 + Missense_Mutation SNP A A G TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr19:12187502A>G ENST00000439326.3 + 4 1742 c.1567A>G c.(1567-1569)Aaa>Gaa p.K523E ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 523 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K523E(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 CAAATGCATGAAAGGACTCAC 0.413000 4 221 0 0 1.23904e-05 0 0 ZNF43 7594 broad.mit.edu 37 19 21990830 21990830 + Missense_Mutation SNP A A C TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr19:21990830A>C ENST00000594012.1 - 7 2505 c.1991T>G c.(1990-1992)aTa>aGa p.I664R ZNF43_ENST00000354959.4_Missense_Mutation_p.I670R|ZNF43_ENST00000595461.1_Missense_Mutation_p.I664R|ZNF43_ENST00000598381.1_Missense_Mutation_p.I664R NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 670 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) AGTATGAATTATCTTATGTTT 0.368000 6 500 0 0 5.50884e-06 0 0 WHAMMP3 0 broad.mit.edu 37 15 23205193 23205193 + RNA SNP A A G TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr15:23205193A>G ENST00000400153.2 - 0 661 NR_003521.1 GGTGTCCTTGAATAACCTAGA 0.398000 6 102 0 0 2.0095e-06 0 0 TM6SF1 53346 broad.mit.edu 37 15 83776476 83776476 + Missense_Mutation SNP C C T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr15:83776476C>T ENST00000322019.9 + 1 318 c.44C>T c.(43-45)tCg>tTg p.S15L TM6SF1_ENST00000379390.6_Missense_Mutation_p.S15L|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000379386.4_Missense_Mutation_p.S15L|TM6SF1_ENST00000565774.1_Missense_Mutation_p.S15L Q9BZW5 TM6S1_HUMAN transmembrane 6 superfamily member 1 15 integral to membrane p.S15W(1) endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 CTGTCCCTCTCGGCCATCCCG 0.736000 9 99 0 0 2.17888e-05 0 0 OR1M1 125963 broad.mit.edu 37 19 9204125 9204125 + Missense_Mutation SNP G G A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr19:9204125G>A ENST00000429566.3 + 1 271 c.205G>A c.(205-207)Gtt>Att p.V69I NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V69I(2) breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CCTGTCCCTGGTTGATTTCTG 0.557000 9 347 0 0 5.01169e-05 0 0 PRSS3P2 0 broad.mit.edu 37 7 142478865 142478865 + RNA SNP T T C rs139176741 by1000genomes TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr7:142478865T>C ENST00000603901.1 + 0 26 NR_001296.3 ATCCTTGCCTTTGTGGGAGCT 0.567000 4 182 0 0 1.12685e-05 0 0 HERC2 8924 broad.mit.edu 37 15 28375699 28375699 + Silent SNP G G A rs61756151 byFrequency TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr15:28375699G>A ENST00000261609.7 - 82 12720 c.12612C>T c.(12610-12612)tgC>tgT p.C4204C NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 4204 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ACTGGGATCCGCATTCCACTT 0.418000 9 1341 0 0 1.12685e-05 0 0 SERPINC1 462 broad.mit.edu 37 1 173876629 173876629 + Missense_Mutation SNP C C A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:173876629C>A ENST00000367698.3 - 6 1295 c.1177G>T c.(1177-1179)Gac>Tac p.D393Y NM_000488.3 NP_000479.1 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C (antithrombin), member 1 393 blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1) 25 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) ACATAGAGGTCATCTCGGCCT 0.473000 11 1073 3.86212e-05 0.0096937 3.86212e-05 1 0 RELN 5649 broad.mit.edu 37 7 103132427 103132427 + Missense_Mutation SNP A A G TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr7:103132427A>G ENST00000424685.2 - 58 9575 c.9416T>C c.(9415-9417)gTa>gCa p.V3139A RELN_ENST00000343529.5_Missense_Mutation_p.V3139A|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000428762.1_Missense_Mutation_p.V3139A P78509 RELN_HUMAN reelin 3139 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TTCCAGCATTACGGAATGAAG 0.363000 54 179 0 0 2.47226e-05 0 0 WNT2B 7482 broad.mit.edu 37 1 113059836 113059836 + Missense_Mutation SNP C C T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:113059836C>T ENST00000369684.4 + 4 1260 c.775C>T c.(775-777)Cgc>Tgc p.R259C WNT2B_ENST00000369686.4_Missense_Mutation_p.R240C|WNT2B_ENST00000256640.5_Missense_Mutation_p.R167C NM_024494.2 NP_078613.1 Q93097 WNT2B_HUMAN wingless-type MMTV integration site family, member 2B 259 chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1) 18 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTCAGATTTCCGCCGCACAGG 0.617000 67 220 0 0 2.47226e-05 0 0 MACF1 23499 broad.mit.edu 37 1 39951311 39951311 + Silent SNP T T C TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:39951311T>C ENST00000564288.1 + 101 23290 c.22513T>C c.(22513-22515)Tta>Cta p.L7505L MACF1_ENST00000545844.1_Silent_p.L5380L|MACF1_ENST00000539005.1_Silent_p.L5250L|MACF1_ENST00000289893.4_Silent_p.L5888L|MACF1_ENST00000361689.2_Silent_p.L5380L|MACF1_ENST00000567887.1_Silent_p.L7542L|MACF1_ENST00000317713.7_Silent_p.L5380L|MACF1_ENST00000372915.3_Silent_p.L7338L Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 7338 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTTTGACCTCTTAGAGACGCA 0.587000 71 207 0 0 2.47226e-05 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026419 129026419 + Nonsense_Mutation SNP G G A rs139541363 by1000genomes TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr2:129026419G>A ENST00000259241.6 - 2 566 c.553C>T c.(553-555)Cga>Tga p.R185* NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 185 3'-phosphate binding (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity p.R185*(2) endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) ACGGGGTCTCGTAGCAGGGTG 0.627000 6 202 0 0 2.17888e-05 0 0 NBEAP1 0 broad.mit.edu 37 15 20876539 20876539 + RNA SNP T T A rs146180697 by1000genomes TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr15:20876539T>A ENST00000556948.1 - 0 61 ACCATCAAGGTATTTTGCAAA 0.348000 62 810 0 0 2.47226e-05 0 0 PCDHB7 0 broad.mit.edu 37 5 140553447 140553447 + Missense_Mutation SNP G G A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr5:140553447G>A ENST00000231137.3 + 1 1205 c.1031G>A c.(1030-1032)cGa>cAa p.R344Q NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 344 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AACGATAATCGACCCGAGCTG 0.458000 52 239 0 0 2.47226e-05 0 0 GTPBP4 23560 broad.mit.edu 37 10 1058521 1058521 + Silent SNP T T A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr10:1058521T>A ENST00000360803.4 + 14 1543 c.1461T>A c.(1459-1461)atT>atA p.I487I GTPBP4_ENST00000545048.1_Silent_p.I440I|GTPBP4_ENST00000538293.1_Silent_p.I371I NM_012341.2 NP_036473.2 Q9BZE4 NOG1_HUMAN GTP binding protein 4 487 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) CAAAGCAAATTCGAGAGAAAA 0.443000 76 201 0 0 2.47226e-05 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12855916 12855916 + Missense_Mutation SNP G G A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:12855916G>A ENST00000332296.7 + 4 1299 c.1196G>A c.(1195-1197)cGc>cAc p.R399H PRAMEF1_ENST00000400814.3_Missense_Mutation_p.R154H NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 399 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GACCTGCTGCGCCACACCAGT 0.557000 134 300 0 0 2.47226e-05 0 0 ZNF99 7652 broad.mit.edu 37 19 22940484 22940484 + Missense_Mutation SNP T T G TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr19:22940484T>G ENST00000397104.3 - 5 1953 c.1954A>C c.(1954-1956)Aag>Cag p.K652Q ZNF99_ENST00000596209.1_Missense_Mutation_p.K743Q zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GAGGACCACTTAAAAGCTTTA 0.383000 5 320 0 0 1.12685e-05 0 0 RANBP2 5903 broad.mit.edu 37 2 109367729 109367729 + Missense_Mutation SNP G G T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr2:109367729G>T ENST00000283195.6 + 10 1409 c.1283G>T c.(1282-1284)cGa>cTa p.R428L NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 428 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding p.R428Q(6) RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GGTGCTATTCGAGCACATAAT 0.353000 18 1256 3.52763e-06 0.000968945 5.01169e-05 1 0 MAGOH 4116 broad.mit.edu 37 1 53692748 53692748 + Missense_Mutation SNP A A G TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:53692748A>G ENST00000371470.3 - 5 571 c.410T>C c.(409-411)aTt>aCt p.I137T MAGOH_ENST00000371466.4_Missense_Mutation_p.I100T NM_002370.3 NP_002361.1 P61326 MGN_HUMAN mago-nashi homolog, proliferation-associated (Drosophila) 137 mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck protein binding|RNA binding p.I137T(1) haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1) 6 GTGTAATCCAATAAGACTGAA 0.378000 5 334 0 0 3.59834e-05 0 0 BAGE2 85319 broad.mit.edu 37 21 11058168 11058168 + RNA SNP A A T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr21:11058168A>T ENST00000470054.1 - 0 479 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TACATCTTTCAGGAGCTTGGT 0.388000 10 684 0 0 3.45872e-05 0 0 PPAN-P2RY11 0 broad.mit.edu 37 19 10220315 10220315 + Silent SNP G G T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr19:10220315G>T ENST00000428358.1 + 6 694 c.522G>T c.(520-522)ctG>ctT p.L174L PPAN-P2RY11_ENST00000393796.4_Silent_p.L174L|PPAN_ENST00000253107.7_Silent_p.L174L|PPAN_ENST00000393793.1_Silent_p.L121L|PPAN_ENST00000556468.1_Silent_p.L174L NM_001040664.2|NM_001198690.1 NP_001035754.1|NP_001185619.1 Q9NQ55 SSF1_HUMAN 174 Brix. RNA splicing nucleolus protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 31 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) AGGTGAACCTGAACACCATCA 0.577000 17 1433 3.86212e-05 0.0096937 3.86212e-05 1 0 HIST2H2BE 8349 broad.mit.edu 37 1 149858030 149858030 + Missense_Mutation SNP C C T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:149858030C>T ENST00000369155.2 - 1 202 c.161G>A c.(160-162)gGc>gAc p.G54D NM_003528.2 NP_003519.1 Q16778 H2B2E_HUMAN histone cluster 2, H2be 54 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding p.G54D(2) breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 14 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) GGACGAGATGCCGGTGTCGGG 0.587000 9 1377 0 0 1.12685e-05 0 0 RLIM 51132 broad.mit.edu 37 X 73811739 73811739 + Missense_Mutation SNP A A G TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chrX:73811739A>G ENST00000332687.6 - 4 1629 c.1411T>C c.(1411-1413)Tca>Cca p.S471P RLIM_ENST00000349225.2_Missense_Mutation_p.S471P NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 471 Poly-Ser.|Ser-rich. random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ctggaacttgaactggaactg 0.483000 4 221 0 0 5.01169e-05 0 0 IGHA2 0 broad.mit.edu 37 14 106054693 106054693 + RNA SNP C C A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr14:106054693C>A ENST00000390539.2 - 0 39 GGGGTGCTGTCGAGGCTCAGC 0.637000 6 321 1.15088e-07 3.28512e-05 3.45872e-05 1 0 NONO 4841 broad.mit.edu 37 X 70517747 70517747 + Missense_Mutation SNP C C T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chrX:70517747C>T ENST00000535149.1 + 7 1466 c.823C>T c.(823-825)Cgg>Tgg p.R275W NONO_ENST00000373856.3_Missense_Mutation_p.R364W|NONO_ENST00000373841.1_Missense_Mutation_p.R364W|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000276079.8_Missense_Mutation_p.R364W NM_001145410.1 NP_001138882.1 Q15233 NONO_HUMAN non-POU domain containing, octamer-binding 364 DBHS. DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|identical protein binding|nucleotide binding|RNA binding NONO/TFE3(2) endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 19 Renal(35;0.156) AGAAATGATGCGGCGACAGCA 0.512000 T TFE3 papillary renal cancer 5 132 0 0 3.59834e-05 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162340 90162340 + RNA SNP C C T rs138169571 by1000genomes TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr16:90162340C>T ENST00000567960.1 + 0 1076 TUBB8P7_ENST00000564451.1_RNA p.R358W(1) CATCCCACTCCGGGGGCTAAA 0.478000 8 735 0 0 3.86212e-05 0 0 POTEH 23784 broad.mit.edu 37 22 16287770 16287770 + Missense_Mutation SNP C C T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr22:16287770C>T ENST00000343518.6 - 1 167 c.116G>A c.(115-117)gGc>gAc p.G39D NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 39 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 GTTGCTCTTGCCGCTCCCCCT 0.592000 9 1547 0 0 3.59834e-05 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 7 241 0 0 5.18039e-06 0 0 PRSS3P2 0 broad.mit.edu 37 7 142479942 142479942 + RNA SNP T T C TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr7:142479942T>C ENST00000603901.1 + 0 74 NR_001296.3 GACAAGATCGTTGGGGGCTAC 0.562000 51 957 0 0 1.69351e-05 0 0 SRL 6345 broad.mit.edu 37 16 4245590 4245590 + Missense_Mutation SNP G G A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr16:4245590G>A ENST00000399609.3 - 5 586 c.574C>T c.(574-576)Cca>Tca p.P192S SRL_ENST00000537996.1_Missense_Mutation_p.P150S NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 651 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 ATGATGCCTGGTGTATCCACA 0.448000 184 517 0 0 2.47226e-05 0 0 GOLGA3 2802 broad.mit.edu 37 12 133384600 133384600 + Missense_Mutation SNP G G C TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr12:133384600G>C ENST00000204726.3 - 5 1613 c.1055C>G c.(1054-1056)gCg>gGg p.A352G GOLGA3_ENST00000545875.1_Missense_Mutation_p.A352G|GOLGA3_ENST00000537452.1_Missense_Mutation_p.A352G|GOLGA3_ENST00000456883.2_Missense_Mutation_p.A352G|GOLGA3_ENST00000450791.2_Missense_Mutation_p.A352G NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 352 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) CAGGGTATCCGCAGGAATCTC 0.632000 74 269 0 0 2.47226e-05 0 0 NUB1 51667 broad.mit.edu 37 7 151046243 151046243 + Missense_Mutation SNP A A G TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr7:151046243A>G ENST00000568733.1 + 3 340 c.274A>G c.(274-276)Att>Gtt p.I92V NUB1_ENST00000355851.4_Missense_Mutation_p.I68V|NUB1_ENST00000566856.1_Missense_Mutation_p.I68V|NUB1_ENST00000413040.2_Missense_Mutation_p.I92V Q9Y5A7 NUB1_HUMAN negative regulator of ubiquitin-like proteins 1 68 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process nucleus protein binding endometrium(1)|large_intestine(7)|lung(3) 11 OV - Ovarian serous cystadenocarcinoma(82;0.00569) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) TTGCAAGGCAATTGAGCGTGG 0.368000 125 347 0 0 2.47226e-05 0 0 TAS2R19 259294 broad.mit.edu 37 12 11175081 11175081 + Silent SNP T T A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr12:11175081T>A ENST00000390673.2 - 1 138 c.90A>T c.(88-90)gtA>gtT p.V30V TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176888.1 NP_795369.1 P59542 T2R19_HUMAN taste receptor, type 2, member 19 30 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 CAATGACATTTACTAGGGCTA 0.408000 7 368 0 0 2.0095e-06 0 0 EIF2B2 8892 broad.mit.edu 37 14 75472658 75472658 + Silent SNP C C A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr14:75472658C>A ENST00000266126.5 + 5 767 c.687C>A c.(685-687)gtC>gtA p.V229V RP11-950C14.3_ENST00000554430.1_RNA NM_014239.3 NP_055054.1 P49770 EI2BB_HUMAN eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa 229 cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex ATP binding|GTP binding|protein binding|translation initiation factor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(234;0.00661) TGTCAAGAGTCAACAAGGTGG 0.383000 12 1132 3.86212e-05 0.0096937 3.86212e-05 1 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000452722.2_Silent_p.T343T Q9BY67 CADM1_HUMAN cell adhesion molecule 1 343 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 8 334 5.18039e-06 0.00141402 5.18039e-06 1 0 IGHG1 0 broad.mit.edu 37 14 106204137 106204137 + RNA SNP T T C TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr14:106204137T>C ENST00000390548.2 - 0 1161 TAGTCGGGGATGATGGTCTGC 0.657000 5 328 0 0 2.0095e-06 0 0 MAP4 4134 broad.mit.edu 37 3 47958144 47958144 + Silent SNP A A G TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr3:47958144A>G ENST00000426837.2 - 8 1311 c.1224T>C c.(1222-1224)gcT>gcC p.A408A MAP4_ENST00000360240.6_Silent_p.A391A|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Silent_p.A391A P27816 MAP4_HUMAN microtubule-associated protein 4 391 17 X 14 AA tandem repeats. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity p.A391A(2) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) CCTTGGAAGGAGCCAAGTCCA 0.443000 8 898 0 0 2.17888e-05 0 0 DDX55 57696 broad.mit.edu 37 12 124103244 124103244 + Missense_Mutation SNP G G T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr12:124103244G>T ENST00000238146.4 + 12 1243 c.1193G>T c.(1192-1194)aGa>aTa p.R398I DDX55_ENST00000421670.3_Missense_Mutation_p.R5I|DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Missense_Mutation_p.R367I NM_020936.1 NP_065987.1 Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 398 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) AAGCCCCAGAGAAACACAGCG 0.527000 OREG0022230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 73 235 9.98788e-38 3.07184e-35 2.47226e-05 1 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 12 467 0 0 2.31682e-05 0 0 MYO5B 4645 broad.mit.edu 37 18 47363917 47363917 + Missense_Mutation SNP A A G rs138128932 by1000genomes TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr18:47363917A>G ENST00000285039.7 - 37 5407 c.5108T>C c.(5107-5109)gTc>gCc p.V1703A MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1703 Dilute. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.V1703A(5) NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CCAAGAGCAGACGTCCTTCCG 0.527000 6 181 0 0 2.17888e-05 0 0 GEMIN4 50628 broad.mit.edu 37 17 650776 650776 + Missense_Mutation SNP C C G TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr17:650776C>G ENST00000576778.1 - 1 1815 c.474G>C c.(472-474)aaG>aaC p.K158N GEMIN4_ENST00000437269.1_Intron|GEMIN4_ENST00000319004.5_Missense_Mutation_p.K169N P57678 GEMI4_HUMAN gem (nuclear organelle) associated protein 4 169 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) GACCCTTGTGCTTCATCACCT 0.562000 6 825 0 0 5.18039e-06 0 0 FAM8A1 51439 broad.mit.edu 37 6 17606169 17606169 + Missense_Mutation SNP T T A rs141659233 TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr6:17606169T>A ENST00000259963.3 + 4 1077 c.1022T>A c.(1021-1023)gTg>gAg p.V341E NM_016255.2 NP_057339.1 Q9UBU6 FA8A1_HUMAN family with sequence similarity 8, member A1 341 RDD. integral to membrane endometrium(1)|large_intestine(2)|lung(3) 6 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.143) all cancers(50;0.176)|Epithelial(50;0.204) CTTCGAGTTGTGACATGTGAT 0.423000 6 324 0 0 3.86212e-05 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78213749 78213749 + RNA SNP C C A rs146590380 by1000genomes TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr15:78213749C>A ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CGCTGCAAGGCGTATTGCAGG 0.562000 7 533 4.7796e-09 1.37329e-06 9.90768e-06 1 0 FRG1B 0 broad.mit.edu 37 20 29625956 29625956 + Missense_Mutation SNP G G A rs147809085 TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr20:29625956G>A ENST00000278882.3 + 5 580 c.200G>A c.(199-201)aGa>aAa p.R67K FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K|FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K p.R67K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATTGGACCAAGAGAACAATGG 0.338000 9 691 0 0 5.01169e-05 0 0 GAS7 8522 broad.mit.edu 37 17 9923135 9923135 + Missense_Mutation SNP G G A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr17:9923135G>A ENST00000396115.1 - 2 393 c.83C>T c.(82-84)tCg>tTg p.S28L GAS7_ENST00000437099.2_Missense_Mutation_p.S24L|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000540214.1_Missense_Mutation_p.S24L|GAS7_ENST00000585266.1_Missense_Mutation_p.S24L|GAS7_ENST00000432992.2_Missense_Mutation_p.S88L|GAS7_ENST00000323816.4_Missense_Mutation_p.S24L|GAS7_ENST00000579158.1_Missense_Mutation_p.S40L|GAS7_ENST00000542249.1_Missense_Mutation_p.S33L NM_201432.1 NP_958836.1 O60861 GAS7_HUMAN growth arrest-specific 7 88 SH3. cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 39 GCCCTGAGGCGACAGGTAGCT 0.597000 T MLL AML* 47 169 0 0 1.69351e-05 0 0 NFKBIB 4793 broad.mit.edu 37 19 39398260 39398260 + Silent SNP C C T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr19:39398260C>T ENST00000392079.3 + 5 932 c.834C>T c.(832-834)ccC>ccT p.P278P NFKBIB_ENST00000572515.1_Silent_p.P310P|NFKBIB_ENST00000313582.5_Silent_p.P310P Q15653 IKBB_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta 310 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|transcription, DNA-dependent cytosol|nucleus protein binding|signal transducer activity|transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 8 all_cancers(60;4.39e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) AATCCGGCCCCTGCAGCAGCA 0.692000 24 56 0 0 5.49717e-05 0 0 ZNF451 26036 broad.mit.edu 37 6 57018799 57018799 + Silent SNP A A G TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr6:57018799A>G ENST00000370706.4 + 13 3268 c.3024A>G c.(3022-3024)ggA>ggG p.G1008G RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|ZNF451_ENST00000357489.3_Silent_p.G960G|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000491832.2_Silent_p.G1008G|RP11-203B9.4_ENST00000586053.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 1008 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) ACTTAGAGGGAGATATGATGT 0.458000 104 331 0 0 2.47226e-05 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372644 74372644 + RNA SNP A A G TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr16:74372644A>G ENST00000429810.2 - 0 1552 TACCCTTGTCAGGGGGAACAA 0.443000 4 150 0 0 2.56e-06 0 0 PRSS3P2 0 broad.mit.edu 37 7 142481888 142481888 + RNA SNP T T C rs138077672 by1000genomes TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr7:142481888T>C ENST00000603901.1 + 0 567 NR_001296.3 TGGGCTTCCTTGAGGGAGGCA 0.522000 9 393 0 0 9.90768e-06 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 8 214 0 0 1.12685e-05 0 0 PPAP2C 8612 broad.mit.edu 37 19 291323 291323 + Nonsense_Mutation SNP C C T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr19:291323C>T ENST00000269812.3 - 1 63 c.14G>A c.(13-15)tGg>tAg p.W5* PPAP2C_ENST00000434325.2_Intron NM_003712.2|NM_177526.1 NP_003703.1|NP_803545.1 O43688 LPP2_HUMAN phosphatidic acid phosphatase type 2C 5 sphingolipid metabolic process integral to membrane|plasma membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1) 5 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACGAAGACCCACCTCCGCTG 0.756000 40 160 0 0 2.47226e-05 0 0 SAA2 6289 broad.mit.edu 37 11 18266989 18266989 + Missense_Mutation SNP T T C TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr11:18266989T>C ENST00000526900.1 - 4 487 c.304A>G c.(304-306)Aaa>Gaa p.K102E SAA2_ENST00000256733.4_Missense_Mutation_p.K102E|SAA2_ENST00000529528.1_Missense_Mutation_p.K102E|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000414546.2_Intron|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000530400.1_Intron serum amyloid A2 p.K102E(2) central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1) 6 CTGCCCCATTTATTGGCAGCC 0.572000 7 329 0 0 5.50884e-06 0 0 ERCC3 2071 broad.mit.edu 37 2 128046338 128046338 + Missense_Mutation SNP C C A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr2:128046338C>A ENST00000493187.2 - 7 1196 c.733G>T c.(733-735)Gac>Tac p.D245Y ERCC3_ENST00000285398.2_Missense_Mutation_p.D309Y P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 309 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) GGCTTTAGGTCAATGTTGATA 0.493000 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 14 1406 2.17888e-05 0.00576716 2.17888e-05 1 0 NBPF3 84224 broad.mit.edu 37 1 21806606 21806606 + Missense_Mutation SNP T T G TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:21806606T>G ENST00000318220.6 + 14 2151 c.1103T>G c.(1102-1104)tTt>tGt p.F368C NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C|NBPF3_ENST00000318249.5_Missense_Mutation_p.F424C Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 424 NBPF 2. cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CTGGATAGATTTTATTCAACT 0.468000 5 302 0 0 3.59834e-05 0 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 6 259 0 0 2.0095e-06 0 0 ZNF845 91664 broad.mit.edu 37 19 53856761 53856761 + Missense_Mutation SNP T T C TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr19:53856761T>C ENST00000458035.1 + 4 2950 c.2833T>C c.(2833-2835)Tgt>Cgt p.C945R ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 945 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C945R(1) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 ACCTTACAAGTGTAATGAATG 0.348000 7 194 0 0 5.18039e-06 0 0 IGHV4OR15-8 0 broad.mit.edu 37 15 22473194 22473194 + RNA SNP G G C TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr15:22473194G>C ENST00000557788.2 - 0 76 TCCTGGGCCCGACTCCTGCAG 0.617000 9 955 0 0 2.27731e-05 0 0 DCTN1 1639 broad.mit.edu 37 2 74597120 74597120 + Missense_Mutation SNP C C T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr2:74597120C>T ENST00000361874.3 - 13 1681 c.1364G>A c.(1363-1365)cGc>cAc p.R455H DCTN1_ENST00000409438.1_Missense_Mutation_p.R321H|DCTN1_ENST00000409567.3_Missense_Mutation_p.R435H|DCTN1_ENST00000409240.1_Missense_Mutation_p.R418H|DCTN1_ENST00000394003.3_Missense_Mutation_p.R448H|DCTN1_ENST00000407639.2_Missense_Mutation_p.R321H|DCTN1_ENST00000409868.1_Missense_Mutation_p.R438H NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 455 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 CCTCAACTCGCGCACTTTCTC 0.537000 114 382 0 0 2.47226e-05 0 0 CELF3 11189 broad.mit.edu 37 1 151681757 151681757 + Missense_Mutation SNP A A C TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:151681757A>C ENST00000290583.4 - 4 1138 c.345T>G c.(343-345)ttT>ttG p.F115L CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Missense_Mutation_p.F115L NM_001172648.1|NM_007185.4 NP_001166119.1|NP_009116.3 Q5SZQ8 CELF3_HUMAN CUGBP, Elav-like family member 3 115 RRM 2. nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 21 CGAAGGGCTCAAACATCTTCC 0.617000 103 1159 0 0 2.47226e-05 0 0 TTN 7273 broad.mit.edu 37 2 179598237 179598237 + Silent SNP G G T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr2:179598237G>T ENST00000589042.1 - 54 16007 c.15783C>A c.(15781-15783)gcC>gcA p.A5261A TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.A4017A|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Silent_p.A4944A|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4944 Ig-like 33. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAATGATTTTGGCAGGTTCTA 0.443000 14 1193 1.3612e-06 0.000383534 2.31682e-05 1 0 MYCBP2 23077 broad.mit.edu 37 13 77672265 77672265 + Missense_Mutation SNP G G T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr13:77672265G>T ENST00000407578.2 - 56 9290 c.9024C>A c.(9022-9024)ttC>ttA p.F3008L MYCBP2_ENST00000360084.5_Missense_Mutation_p.Q493K|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.F2970L|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.F2970L NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2970 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CATCTCCTTTGAAAAGAAAAC 0.453000 10 601 3.07112e-06 0.000848892 3.07112e-06 1 0 MUC21 394263 broad.mit.edu 37 6 30955234 30955234 + Missense_Mutation SNP A A C TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr6:30955234A>C ENST00000376296.3 + 2 1523 c.1282A>C c.(1282-1284)Acc>Ccc p.T428P MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 428 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 GTCCAGCACAACCTCCAGTGG 0.597000 7 363 0 0 3.45872e-05 0 0 PSAT1 29968 broad.mit.edu 37 9 80921289 80921289 + Missense_Mutation SNP G G A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr9:80921289G>A ENST00000376588.3 + 5 525 c.457G>A c.(457-459)Gca>Aca p.A153T PSAT1_ENST00000347159.2_Missense_Mutation_p.A153T NM_058179.2 NP_478059.1 Q9Y617 SERC_HUMAN phosphoserine aminotransferase 1 153 L-serine biosynthetic process|pyridoxine biosynthetic process O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding p.A153T(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 20 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) GTATTATTGCGCAAATGAGAC 0.463000 11 1678 0 0 3.59834e-05 0 0 PHF15 0 broad.mit.edu 37 5 133914244 133914244 + Nonsense_Mutation SNP C C A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr5:133914244C>A ENST00000395003.1 + 11 1789 c.1610C>A c.(1609-1611)tCg>tAg p.S537* PHF15_ENST00000361895.2_Nonsense_Mutation_p.S538*|PHF15_ENST00000282605.4_Nonsense_Mutation_p.S581*|PHF15_ENST00000402835.1_3'UTR NM_015288.4 NP_056103.4 Q9NQC1 JADE2_HUMAN 537 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTGGCACAGTCGGTGCAGATC 0.607000 8 553 3.86212e-05 0.0096937 3.86212e-05 1 0 MAGI2 9863 broad.mit.edu 37 7 77797420 77797420 + Missense_Mutation SNP C C A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr7:77797420C>A ENST00000354212.4 - 15 2662 c.2409G>T c.(2407-2409)ttG>ttT p.L803F MAGI2_ENST00000419488.1_Missense_Mutation_p.L789F|MAGI2_ENST00000522391.1_Missense_Mutation_p.L803F NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 803 PDZ 4. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CAGCTCCAATCAAAATCTAGA 0.458000 8 368 3.86212e-05 0.0096937 3.86212e-05 1 0 SCRIB 23513 broad.mit.edu 37 8 144891881 144891881 + Missense_Mutation SNP C C T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr8:144891881C>T ENST00000356994.2 - 14 1544 c.1538G>A c.(1537-1539)cGg>cAg p.R513Q SCRIB_ENST00000320476.3_Missense_Mutation_p.R513Q|SCRIB_ENST00000377533.3_Missense_Mutation_p.R432Q NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 513 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GGCACTCAGCCGCTTCTCCTG 0.687000 59 253 0 0 2.47226e-05 0 0 CLSTN3 9746 broad.mit.edu 37 12 7301731 7301731 + Missense_Mutation SNP C C A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr12:7301731C>A ENST00000537408.1 + 12 2585 c.2047C>A c.(2047-2049)Caa>Aaa p.Q683K CLSTN3_ENST00000266546.6_Missense_Mutation_p.Q671K Q9BQT9 CSTN3_HUMAN calsyntenin 3 671 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 CCCTGATCTTCAAATCACCTG 0.562000 19 166 3.32936e-07 9.44176e-05 5.3912e-06 1 0 ANKRD55 79722 broad.mit.edu 37 5 55407377 55407377 + Missense_Mutation SNP G G T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr5:55407377G>T ENST00000341048.4 - 10 1349 c.1198C>A c.(1198-1200)Cag>Aag p.Q400K ANKRD55_ENST00000504958.2_Missense_Mutation_p.Q357K|ANKRD55_ENST00000434982.2_Missense_Mutation_p.Q112K NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 399 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) ATAGCCACCTGATCACCAGGC 0.473000 11 940 3.86212e-05 0.0096937 3.86212e-05 1 0 ANKRD36C 400986 broad.mit.edu 37 2 96521777 96521777 + Missense_Mutation SNP T T C rs77768218 TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr2:96521777T>C ENST00000456556.1 - 63 4316 c.4232A>G c.(4231-4233)cAt>cGt p.H1411R ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R ankyrin repeat domain 36C p.H662R(6)|p.H1411R(3) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 AAGGTCTTCATGCTTTCTTTT 0.383000 4 114 0 0 1.23904e-05 0 0 SMAD4 4089 broad.mit.edu 37 18 48591891 48591891 + Nonsense_Mutation SNP G G T rs121912581 TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr18:48591891G>T ENST00000342988.3 + 9 1592 c.1054G>T c.(1054-1056)Gga>Tga p.G352* SMAD4_ENST00000588745.1_Nonsense_Mutation_p.G256*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.G352* NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 352 MH2. G -> R (in JP/HHT and JPS). BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TACTGTTGATGGATACGTGGA 0.443000 125 234 5.90297e-41 1.82837e-38 2.47226e-05 1 0 CEP192 55125 broad.mit.edu 37 18 13100331 13100331 + Missense_Mutation SNP G G T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr18:13100331G>T ENST00000506447.1 + 38 6771 c.6691G>T c.(6691-6693)Gat>Tat p.D2231Y CEP192_ENST00000325971.8_Missense_Mutation_p.D1635Y|CEP192_ENST00000430049.2_Missense_Mutation_p.D1756Y|CEP192_ENST00000540847.2_3'UTR NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1826 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 AATTCGAGAAGATTTAACTCA 0.338000 9 380 1.58986e-06 0.000445091 3.86212e-05 1 0 VPS52 6293 broad.mit.edu 37 6 33235969 33235969 + Missense_Mutation SNP C C A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr6:33235969C>A ENST00000445902.2 - 8 934 c.716G>T c.(715-717)cGa>cTa p.R239L VPS52_ENST00000436044.2_Missense_Mutation_p.R114L|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR NM_022553.4 NP_072047.4 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 homolog (S. cerevisiae) 239 protein transport endosome membrane|Golgi apparatus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 GATAAACTCTCGGATCTTCGT 0.498000 12 744 1.12685e-05 0.0030192 1.12685e-05 1 0 RGPD4 285190 broad.mit.edu 37 2 108507185 108507185 + Nonstop_Mutation SNP T T G TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr2:108507185T>G ENST00000408999.3 + 23 5352 c.5275T>G c.(5275-5277)Taa>Gaa p.*1759E NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 0 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 AGGTGAGGAATAAAATGCTTC 0.303000 4 216 0 0 1.23904e-05 0 0 PRSS1 5644 broad.mit.edu 37 7 142458439 142458439 + Missense_Mutation SNP T T C TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr7:142458439T>C ENST00000486171.1 + 2 91 c.74T>C c.(73-75)gTt>gCt p.V25A PRSS1_ENST00000311737.7_Missense_Mutation_p.V25A P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 25 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) GACAAGATCGTTGGGGGCTAC 0.547000 96 938 0 0 2.47226e-05 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 12 284 0 0 8.00594e-06 0 0 GTF2A1 2957 broad.mit.edu 37 14 81646614 81646614 + Nonsense_Mutation SNP C C A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr14:81646614C>A ENST00000553612.1 - 9 1487 c.1084G>T c.(1084-1086)Gga>Tga p.G362* GTF2A1_ENST00000434192.2_Nonsense_Mutation_p.G323* NM_015859.3 NP_056943.1 P52655 TF2AA_HUMAN general transcription factor IIA, 1, 19/37kDa 362 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|transcription factor TFIIA complex DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(234;0.0287) TAATCTCTTCCATTAAGATTC 0.269000 10 1235 2.17888e-05 0.00576716 2.17888e-05 1 0 ZNF516 9658 broad.mit.edu 37 18 74154961 74154961 + Missense_Mutation SNP G G A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr18:74154961G>A ENST00000443185.2 - 3 367 c.50C>T c.(49-51)cCc>cTc p.P17L ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 17 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GGCCCTGGTGGGGCTGGGGCC 0.692000 21 51 0 0 1.64113e-05 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166741 19166741 + Silent SNP C C T rs112760365 TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:19166741C>T ENST00000375371.3 - 6 1893 c.1872G>A c.(1870-1872)ccG>ccA p.P624P NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 624 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) AGACCTTGGGCGGCCCCACGT 0.617000 7 229 0 0 2.0095e-06 0 0 SPPL2A 84888 broad.mit.edu 37 15 51012246 51012246 + Missense_Mutation SNP T T C TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr15:51012246T>C ENST00000261854.5 - 14 1653 c.1379A>G c.(1378-1380)aAg>aGg p.K460R NM_032802.3 NP_116191.2 Q8TCT8 PSL2_HUMAN signal peptide peptidase like 2A 460 integral to membrane aspartic-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314) AGGTTGCCCCTTTTTCATCAG 0.408000 5 433 0 0 3.59834e-05 0 0 GLUD2 2747 broad.mit.edu 37 X 120182702 120182702 + Missense_Mutation SNP G G T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chrX:120182702G>T ENST00000328078.1 + 1 1241 c.1164G>T c.(1162-1164)ttG>ttT p.L388F NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 388 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) AGAAGCAGTTGACCAAATCCA 0.507000 18 1372 2.31682e-05 0.00609534 2.31682e-05 1 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 9 692 0 0 2.17888e-05 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 7 234 0 0 5.18039e-06 0 0 ZNF462 58499 broad.mit.edu 37 9 109689499 109689499 + Silent SNP A A C TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr9:109689499A>C ENST00000277225.5 + 3 3595 c.3306A>C c.(3304-3306)ccA>ccC p.P1102P ZNF462_ENST00000457913.1_Silent_p.P1102P Q96JM2 ZN462_HUMAN zinc finger protein 462 1102 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CACCCCCCCCACAACCCCCGC 0.527000 9 169 0 0 2.90539e-05 0 0 FAM8A1 51439 broad.mit.edu 37 6 17606158 17606158 + Silent SNP G G C TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr6:17606158G>C ENST00000259963.3 + 4 1066 c.1011G>C c.(1009-1011)ggG>ggC p.G337G NM_016255.2 NP_057339.1 Q9UBU6 FA8A1_HUMAN family with sequence similarity 8, member A1 337 RDD. integral to membrane endometrium(1)|large_intestine(2)|lung(3) 6 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.143) all cancers(50;0.176)|Epithelial(50;0.204) TCCTGCTGGGGCTTCGAGTTG 0.423000 7 324 0 0 3.86212e-05 0 0 MANEA 79694 broad.mit.edu 37 6 96034881 96034881 + Missense_Mutation SNP A A G rs148967607 by1000genomes TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr6:96034881A>G ENST00000369293.1 + 2 700 c.566A>G c.(565-567)tAt>tGt p.Y189C MANEA_ENST00000358812.4_Intron Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 0 Catalytic (Probable). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) atatatatatatgtgtgtttg 0.299000 5 182 0 0 3.59834e-05 0 0 KDM5B 10765 broad.mit.edu 37 1 202724554 202724554 + Missense_Mutation SNP C C A rs76768289 TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:202724554C>A ENST00000367265.3 - 11 2547 c.1383G>T c.(1381-1383)ttG>ttT p.L461F KDM5B_ENST00000367264.2_Missense_Mutation_p.L497F|KDM5B_ENST00000456180.1_5'UTR NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 461 JmjC. negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 GCATGTTGTTCAAATTCCAGC 0.378000 19 634 5.35356e-11 1.59052e-08 4.16121e-05 1 0 TRPM3 80036 broad.mit.edu 37 9 73151012 73151012 + Missense_Mutation SNP C C T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr9:73151012C>T ENST00000377110.2 - 25 5224 c.4981G>A c.(4981-4983)Gac>Aac p.D1661N TRPM3_ENST00000396280.5_Missense_Mutation_p.D1510N|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000358082.3_Missense_Mutation_p.D1523N|TRPM3_ENST00000396285.1_Missense_Mutation_p.D1520N|TRPM3_ENST00000360823.2_Missense_Mutation_p.D1523N|TRPM3_ENST00000396292.4_Missense_Mutation_p.D1533N|TRPM3_ENST00000357533.2_Missense_Mutation_p.D1665N|TRPM3_ENST00000423814.3_Missense_Mutation_p.D1688N|TRPM3_ENST00000377105.1_Missense_Mutation_p.D1520N|TRPM3_ENST00000377106.1_Missense_Mutation_p.D1533N|TRPM3_ENST00000408909.2_Missense_Mutation_p.D1520N NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1686 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 CGCTGCCTGTCGAGTTTGTCA 0.582000 11 1233 0 0 1.12685e-05 0 0 PITPNM2 57605 broad.mit.edu 37 12 123480179 123480179 + Missense_Mutation SNP A A G TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr12:123480179A>G ENST00000280562.5 - 13 2016 c.1811T>C c.(1810-1812)cTg>cCg p.L604P PITPNM2_ENST00000392428.1_Missense_Mutation_p.L325P|PITPNM2_ENST00000320201.4_Missense_Mutation_p.L604P|PITPNM2_ENST00000542749.1_Missense_Mutation_p.L604P Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 604 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) TGCATTCATCAGGATGCCCGG 0.672000 4 91 0 0 1.23904e-05 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21054322 21054322 + Missense_Mutation SNP G G T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr12:21054322G>T ENST00000381545.3 + 15 2005 c.1786G>T c.(1786-1788)Gat>Tat p.D596Y SLCO1B3_ENST00000553473.1_Missense_Mutation_p.D596Y|LST3_ENST00000540229.1_Missense_Mutation_p.D596Y|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.D596Y|LST3_ENST00000381541.3_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 596 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity p.D596N(1) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) GGCTCTGATTGATAAAACATG 0.378000 144 461 8.63352e-77 2.69323e-74 2.47226e-05 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 6 163 0 0 3.07112e-06 0 0 TRAK1 22906 broad.mit.edu 37 3 42251664 42251664 + Missense_Mutation SNP C C A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr3:42251664C>A ENST00000341421.3 + 13 2169 c.1976C>A c.(1975-1977)gCa>gAa p.A659E TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000327628.5_Intron NM_001265608.1|NM_014965.4 NP_001252537.1|NP_055780.2 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 0 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 TTCCCGGAGGCAGAGTTTTGG 0.577000 296 956 8.94258e-86 2.80971e-83 2.47226e-05 1 0 TRIM49C 642612 broad.mit.edu 37 11 89774252 89774252 + Missense_Mutation SNP G G A rs145791878 by1000genomes TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr11:89774252G>A ENST00000448984.1 + 8 1222 c.893G>A c.(892-894)aGt>aAt p.S298N TRIM49C_ENST00000432771.1_Intron NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 298 B30.2/SPRY. intracellular zinc ion binding p.S298N(4) endometrium(3)|kidney(1)|lung(4) 8 GAAGCCAACAGTGATATCTTT 0.323000 6 285 0 0 3.86212e-05 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12921405 12921405 + Missense_Mutation SNP G G A rs143742734 byFrequency TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:12921405G>A ENST00000240189.2 + 4 1283 c.1196G>A c.(1195-1197)cGc>cAc p.R399H NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 399 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GACCTGCTGCGCCACACCAGT 0.557000 7 352 0 0 1.8613e-05 0 0 TUBB8 347688 broad.mit.edu 37 10 93379 93379 + Missense_Mutation SNP C C T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr10:93379C>T ENST00000447903.2 - 4 1052 c.737G>A c.(736-738)aGg>aAg p.R246K TUBB8_ENST00000309812.4_Missense_Mutation_p.R318K Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 318 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) CATGCGACCCCTGAAAATGGC 0.512000 9 782 0 0 2.17888e-05 0 0 FAM19A2 338811 broad.mit.edu 37 12 62147455 62147455 + Missense_Mutation SNP G G A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr12:62147455G>A ENST00000416284.3 - 4 1916 c.332C>T c.(331-333)cCg>cTg p.P111L FAM19A2_ENST00000550003.1_Missense_Mutation_p.P14L|FAM19A2_ENST00000551619.1_Missense_Mutation_p.P111L|FAM19A2_ENST00000551449.1_Intron NM_178539.4 NP_848634.1 Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 111 cytoplasm endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 15 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) TTTCCGATCCGGAAGAACTTT 0.408000 10 465 0 0 2.17888e-05 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 5 688 0 0 2.17888e-05 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 7 666 0 0 1.12685e-05 0 0 ZNF493 284443 broad.mit.edu 37 19 21606712 21606712 + Silent SNP T T C TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr19:21606712T>C ENST00000392288.2 + 4 1360 c.1251T>C c.(1249-1251)tcT>tcC p.S417S CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.S289S NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 ATAAGGAGTCTTCACACCTTA 0.348000 9 397 0 0 1.12685e-05 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128735 45128735 + RNA SNP T T C rs138973461 by1000genomes TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr17:45128735T>C ENST00000575173.1 - 0 418 GAAATACTAATGATTTTTATT 0.323000 7 602 0 0 1.12685e-05 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 9 346 0 0 3.07112e-06 0 0 GGT3P 0 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 14 95 0 0 2.31682e-05 0 0 HTR1A 3350 broad.mit.edu 37 5 63257207 63257207 + Missense_Mutation SNP C C T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr5:63257207C>T ENST00000323865.3 - 1 573 c.340G>A c.(340-342)Gcc>Acc p.A114T RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 114 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) ACGTCGAGGGCGATGAACAGG 0.607000 15 81 0 0 1.49906e-05 0 0 RERE 473 broad.mit.edu 37 1 8716284 8716285 + Frame_Shift_Del DEL TC TC - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:8716284_8716285delTC ENST00000337907.3 - 3 706_707 c.72_73delGA c.(70-75)gaaafs p.EK24fs RERE_ENST00000400907.2_Frame_Shift_Del_p.EK24fs|RERE_ENST00000400908.2_Frame_Shift_Del_p.EK24fs NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 24 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) TTGTCTCTTTTCtctctctctc 0.505 13 653 --- --- --- --- ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 7 245 --- --- --- --- CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:32670247_32670248delTG ENST00000421922.2 + 5 674_675 c.574_575delTG c.(574-576)tfs p.C192fs CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 9 1150 --- --- --- --- ZMYM4 9202 broad.mit.edu 37 1 35846959 35846960 + Frame_Shift_Ins INS - - A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:35846959_35846960insA ENST00000314607.6 + 8 1361_1362 c.1281_1282insA c.(1279-1284)ctaaaafs p.LK427fs ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.LK427fs NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 427 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CATATGAACTGAAAAAAAAACC 0.342 8 506 --- --- --- --- ZMPSTE24 10269 broad.mit.edu 37 1 40756542 40756543 + Frame_Shift_Ins INS - - T rs137854889 TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:40756542_40756543insT ENST00000372759.3 + 9 1241_1242 c.1076_1077insT c.(1075-1077)tttfs p.F359fs NM_005857.4 NP_005848.2 O75844 FACE1_HUMAN zinc metallopeptidase STE24 359 endoplasmic reticulum membrane|Golgi membrane|integral to membrane metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 16 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) TCTTTCCTGTGTTTTTTTTTAT 0.332 7 352 --- --- --- --- IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:46184897_46184898delAC ENST00000396478.3 - 6 1265_1266 c.1163_1164delGT c.(1162-1164)tfs p.C388fs NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 388 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TAGCCCCATAACACACACACAC 0.347 8 393 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121116645 121116645 + RNA DEL T T - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:121116645delT ENST00000437515.1 - 0 329 CAAGCCCCCCTTTAAAAAAAA 0.393 7 250 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121116648 121116648 + RNA DEL A A - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:121116648delA ENST00000437515.1 - 0 329 GCCCCCCTTTAAAAAAAAAGG 0.398 8 256 --- --- --- --- SRGAP2B 0 broad.mit.edu 37 1 144043905 144043906 + RNA INS - - G TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:144043905_144043906insG ENST00000467933.1 + 0 1108 tcgctcacgctggagctgtaga 0.535 10 140 --- --- --- --- POLR3GL 84265 broad.mit.edu 37 1 145457040 145457042 + In_Frame_Del DEL TCT TCT - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:145457040_145457042delTCT ENST00000369314.1 - 7 625_627 c.519_521delAGA c.(517-522)gag>ga p.EE173del POLR3GL_ENST00000369313.3_In_Frame_Del_p.EE150del NM_032305.1 NP_115681.1 Q9BT43 RPC7L_HUMAN polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like 173 Glu-rich. endometrium(2)|large_intestine(1)|lung(1) 4 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ctcttccttctcttcttcttctt 0.448 9 109 --- --- --- --- BCL9 607 broad.mit.edu 37 1 147091501 147091501 + Frame_Shift_Del DEL C C - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:147091501delC ENST00000234739.3 + 8 2280 c.1540delC c.(1540-1542)ccfs p.P517fs NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 517 Poly-Pro.|Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GGTCCGAGGACCCCCCCCTCC 0.582 T """IGH@, IGL@""" B-ALL 7 683 --- --- --- --- LINGO4 339398 broad.mit.edu 37 1 151773603 151773603 + Frame_Shift_Del DEL A A - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:151773603delA ENST00000368820.3 - 2 2515 c.1578delT c.(1576-1578)ttfs p.F526fs NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 526 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGCTATCCAGAAAAAAAGGCC 0.582 9 1112 --- --- --- --- PBXIP1 57326 broad.mit.edu 37 1 154917508 154917510 + In_Frame_Del DEL GGT GGT - rs143592003 TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:154917508_154917510delGGT ENST00000368463.3 - 11 2257_2259 c.2186_2188delACC c.(2185-2190)cgg>c p.HR729del PBXIP1_ENST00000539880.1_In_Frame_Del_p.HR556del|PBXIP1_ENST00000368465.1_In_Frame_Del_p.HR700del|PBXIP1_ENST00000542459.1_In_Frame_Del_p.HR574del NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 729 His-rich. cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGTCAGCCCCGGTGGTGGTGGTG 0.640 9 415 --- --- --- --- TMCO1 54499 broad.mit.edu 37 1 165712550 165712551 + Splice_Site INS - - A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:165712550_165712551insA ENST00000367881.5 - 6 752 c.e6-2 TMCO1_ENST00000392129.6_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site Q9UM00 TMCO1_HUMAN transmembrane and coiled-coil domains 1 endoplasmic reticulum membrane|Golgi membrane|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) CCATCAAATCTAAAAGAAAAAA 0.381 7 382 --- --- --- --- SMG7 9887 broad.mit.edu 37 1 183515266 183515267 + Frame_Shift_Ins INS - - A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:183515266_183515267insA ENST00000367537.3 + 18 2680_2681 c.2485_2486insA c.(2485-2487)aaafs p.K829fs SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 846 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding p.?(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GCAGCCTCTAGAAAAAAAAATG 0.450 12 547 --- --- --- --- APOBEC4 403314 broad.mit.edu 37 1 183616826 183616828 + In_Frame_Del DEL TTC TTC - rs141411396 TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:183616826_183616828delTTC ENST00000308641.4 - 2 1360_1362 c.1089_1091delGAA c.(1087-1092)aaa>aa p.KK363del RGL1_ENST00000367531.1_Intron|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.3_Intron|APOBEC4_ENST00000481562.1_5'UTR NM_203454.2 NP_982279.1 Q8WW27 ABEC4_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 363 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1) 21 TTTCTTCCCTTTCTTCTTCTTCT 0.419 7 729 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186273952 186273954 + In_Frame_Del DEL TCC TCC - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:186273952_186273954delTCC ENST00000445192.2 + 6 541_543 c.496_498delTCC c.(496-498)del p.S177del PRG4_ENST00000367486.3_Intron|PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367484.3_In_Frame_Del_p.S136del|PRG4_ENST00000367483.4_In_Frame_Del_p.S136del NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 177 Ser-rich. 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 AAATCAAGAGtcctcctcctcct 0.355 7 402 --- --- --- --- PIK3C2B 5287 broad.mit.edu 37 1 204438072 204438072 + Frame_Shift_Del DEL G G - rs115574296 by1000genomes TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:204438072delG ENST00000367187.3 - 3 1415 c.859delC c.(859-861)gcfs p.R287fs PIK3C2B_ENST00000424712.2_Frame_Shift_Del_p.R287fs NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 287 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding p.R287fs*92(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GCATAGGTGCGGGGGGGCACC 0.622 8 725 --- --- --- --- C1orf131 128061 broad.mit.edu 37 1 231362513 231362513 + Frame_Shift_Del DEL T T - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:231362513delT ENST00000318906.2 - 5 693 c.665delA c.(664-666)agfs p.K222fs C1orf131_ENST00000366651.3_Frame_Shift_Del_p.K221fs|C1orf131_ENST00000366649.2_Frame_Shift_Del_p.K222fs Q8NDD1 CA131_HUMAN chromosome 1 open reading frame 131 222 Lys-rich. breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 8 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) CTTTGCTGCCTTTTTTTCTTT 0.373 7 728 --- --- --- --- HEATR1 55127 broad.mit.edu 37 1 236719429 236719429 + Frame_Shift_Del DEL T T - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:236719429delT ENST00000366582.3 - 38 5599 c.5485delA c.(5485-5487)ctfs p.T1829fs HEATR1_ENST00000366581.2_Frame_Shift_Del_p.T1748fs NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1829 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TGCTTGTAAGTTTTTTTGATG 0.438 8 780 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 7 598 --- --- --- --- AC016995.3 0 broad.mit.edu 37 2 38710019 38710019 + RNA DEL T T - rs2005502 by1000genomes TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr2:38710019delT ENST00000417039.1 - 0 696 CTTtaaaaaataaataaataa 0.244 9 34 --- --- --- --- CCDC88A 55704 broad.mit.edu 37 2 55549818 55549818 + Frame_Shift_Del DEL T T - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr2:55549818delT ENST00000436346.1 - 18 3849 c.3008delA c.(3007-3009)atfs p.N1003fs CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 1003 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 AGCTTCATAATTTTTTTTCAC 0.353 9 474 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91887904 91887905 + RNA INS - - T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr2:91887904_91887905insT ENST00000436174.1 - 0 540 AGCTATTTTCCATTTTTTTTTT 0.292 9 205 --- --- --- --- ITPRIPL1 150771 broad.mit.edu 37 2 96992793 96992795 + In_Frame_Del DEL GAG GAG - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr2:96992793_96992795delGAG ENST00000361124.4 + 1 859_861 c.448_450delGAG c.(448-450)del p.E155del ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 147 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTCCAGCAGTGAGGAGGAGGAGG 0.532 11 328 --- --- --- --- EIF5B 9669 broad.mit.edu 37 2 99977775 99977777 + In_Frame_Del DEL TGA TGA - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr2:99977775_99977777delTGA ENST00000289371.5 + 4 613_615 c.411_413delTGA c.(409-414)agt>ag p.SD137del NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 137 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 ACTCTGGGAGTGATGATGATGAT 0.345 9 519 --- --- --- --- RGPD8 727851 broad.mit.edu 37 2 113181886 113181887 + Splice_Site INS - - A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr2:113181886_113181887insA ENST00000302558.3 - 2 264 c.e2-2 RGPD8_ENST00000409750.1_Splice_Site|RGPD8_ENST00000330575.5_Splice_Site NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 CATTGACTTCTAAAAAAAAATT 0.252 10 932 --- --- --- --- RIF1 55183 broad.mit.edu 37 2 152326345 152326345 + Frame_Shift_Del DEL A A - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr2:152326345delA ENST00000243326.4 + 33 7545 c.7062delA c.(7060-7062)gtfs p.V2354fs RIF1_ENST00000453091.2_Frame_Shift_Del_p.V2328fs|RIF1_ENST00000430328.2_Frame_Shift_Del_p.V2328fs|RIF1_ENST00000444746.2_Frame_Shift_Del_p.V2354fs|RIF1_ENST00000428287.2_Frame_Shift_Del_p.V2328fs Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 2354 Interaction with condensed chromosomes in telophase. cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) TGTCCAATGTAAAAAAGGCTC 0.313 8 634 --- --- --- --- JAGN1 84522 broad.mit.edu 37 3 9934929 9934930 + Frame_Shift_Ins INS - - G TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr3:9934929_9934930insG ENST00000307768.4 + 2 589_590 c.420_421insG c.(418-423)ttgtttfs p.F141fs NM_032492.3 NP_115881.3 Q8N5M9 JAGN1_HUMAN jagunal homolog 1 (Drosophila) 141 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1) 10 Medulloblastoma(99;0.227) GTTTCCTCTTTGGTTTTTCTGC 0.515 131 359 --- --- --- --- PRKCD 5580 broad.mit.edu 37 3 53220653 53220653 + Frame_Shift_Del DEL G G - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr3:53220653delG ENST00000394729.2 + 13 1622 c.1294delG c.(1294-1296)ggfs p.G433fs PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 433 Protein kinase. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) GTTCCTCAACGGGGGGGACCT 0.602 8 1464 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53529193 53529195 + Translation_Start_Site DEL GAT GAT - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr3:53529193_53529195delGAT ENST00000288139.3 + 0 118_120 CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) aatgttcgtGgatgatgatgatg 0.581 12 478 --- --- --- --- ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG TGG - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr3:55733470_55733472delTGG ENST00000288221.6 - 16 3036_3038 c.2781_2783delCCA c.(2779-2784)cat>ca p.HH931del NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 931 Poly-His. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) gtggtggtgatggtggtggtggt 0.502 9 1153 --- --- --- --- LRIG1 26018 broad.mit.edu 37 3 66436625 66436627 + In_Frame_Del DEL GCT GCT - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr3:66436625_66436627delGCT ENST00000383703.3 - 14 2242_2244 c.1639_1641delAGC c.(1639-1641)del p.S548del SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|LRIG1_ENST00000496559.2_5'UTR Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 524 Ig-like C2-type 1. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TCATGGGGGAGCTGCTGCTGCTG 0.547 7 1452 --- --- --- --- MYH15 22989 broad.mit.edu 37 3 108102443 108102443 + Splice_Site DEL T T - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr3:108102443delT ENST00000273353.3 - 41 5881 c.5826_splice c.e41+1 p.K1942_splice NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1942 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CTGCCATACCTTTTTCCCAAA 0.368 7 669 --- --- --- --- MORC1 27136 broad.mit.edu 37 3 108682418 108682419 + Frame_Shift_Ins INS - - T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr3:108682418_108682419insT ENST00000232603.5 - 27 2723_2724 c.2641_2642insA c.(2641-2643)aaafs p.K881fs MORC1_ENST00000483760.1_Frame_Shift_Ins_p.K860fs NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 881 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TTTCCTCTTTATTTTTTTTTCA 0.287 7 362 --- --- --- --- PARP14 54625 broad.mit.edu 37 3 122433231 122433232 + Frame_Shift_Ins INS - - A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr3:122433231_122433232insA ENST00000474629.2 + 12 4221_4222 c.3955_3956insA c.(3955-3957)aaafs p.K1319fs NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1319 Macro 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) GCAGGAGTGTGAAAAAAAAAAT 0.421 13 236 --- --- --- --- XRN1 54464 broad.mit.edu 37 3 142122606 142122607 + Frame_Shift_Ins INS - - A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr3:142122606_142122607insA ENST00000264951.4 - 18 2129_2130 c.2012_2013insT c.(2011-2013)taafs p.*671fs XRN1_ENST00000392981.2_Frame_Shift_Ins_p.*671fs NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 671 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 CACTTTTCTTCAAAAAAAACTT 0.292 8 757 --- --- --- --- RP11-649A16.1 0 broad.mit.edu 37 3 146995077 146995077 + RNA DEL A A - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr3:146995077delA ENST00000473299.1 - 0 132 TCTGGACTGtaaaaaaaaaaa 0.294 14 43 --- --- --- --- DHX36 170506 broad.mit.edu 37 3 154032977 154032978 + Frame_Shift_Ins INS - - T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr3:154032977_154032978insT ENST00000496811.1 - 3 540_541 c.460_461insA c.(460-462)gttfs p.V154fs DHX36_ENST00000308361.6_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.V154fs NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 154 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GATTCTAAACATTTTTTTTTCT 0.337 14 380 --- --- --- --- TMEM41A 90407 broad.mit.edu 37 3 185212517 185212518 + Frame_Shift_Ins INS - - A rs150885877 byFrequency TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr3:185212517_185212518insA ENST00000421852.1 - 4 562_563 c.467_468insT c.(466-468)tttfs p.F156fs TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Intron NM_080652.3 NP_542383.1 Q96HV5 TM41A_HUMAN transmembrane protein 41A 156 integral to membrane large_intestine(1)|lung(2)|skin(1) 4 all_cancers(143;7.78e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AAAACAATAAGAAAAAAAACAA 0.446 7 809 --- --- --- --- HTT 3064 broad.mit.edu 37 4 3216905 3216907 + In_Frame_Del DEL GAG GAG - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr4:3216905_3216907delGAG ENST00000355072.5 + 51 7166_7168 c.7021_7023delGAG c.(7021-7023)del p.E2345del NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 2345 Poly-Glu. establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) AGCCATCAGCGAGGAGGAGGAGG 0.424 7 174 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4204225 4204229 + Frame_Shift_Del DEL TTGAG TTGAG - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr4:4204225_4204229delTTGAG ENST00000296358.4 - 4 700_704 c.676_680delCTCAA c.(676-681)tfs p.LN226fs NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 226 biomineral tissue development extracellular space|integral to membrane p.L226fs*1(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTTGTGCTCATTGAGTTGGTGCTTT 0.502 7 541 --- --- --- --- LIAS 11019 broad.mit.edu 37 4 39462464 39462464 + Frame_Shift_Del DEL A A - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr4:39462464delA ENST00000261434.3 + 2 218 c.100delA c.(100-102)aafs p.K36fs LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs NM_006859.2 NP_006850.2 O43766 LIAS_HUMAN lipoic acid synthetase 36 inflammatory response|response to lipopolysaccharide|response to oxidative stress mitochondrion 4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding p.K36fs*31(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2) 12 Lipoic Acid(DB00166) CTTGCCAGATAAAAAAAAGGA 0.393 12 959 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190873437 190873439 + In_Frame_Del DEL AAG AAG - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr4:190873437_190873439delAAG ENST00000226798.4 + 3 476_478 c.254_256delAAG c.(253-258)aaa>a p.KE85del FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 85 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GCTCCACACAAAGAAGGTTTGTG 0.414 13 739 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32090059 32090061 + In_Frame_Del DEL TCC TCC - rs61744453 by1000genomes TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr5:32090059_32090061delTCC ENST00000438447.1 + 20 6893_6895 c.6505_6507delTCC c.(6505-6507)del p.S2173del PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del O15018 PDZD2_HUMAN PDZ domain containing 2 2173 Ser-rich. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AAAACTGGCGTCCTCCTCCTCCT 0.527 7 611 --- --- --- --- AC026703.1 0 broad.mit.edu 37 5 32789822 32789823 + Frame_Shift_Del DEL GT GT - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr5:32789822_32789823delGT ENST00000326958.1 + 1 878_879 c.315_316delGT c.(313-318)gggtfs p.GC105fs NPR3_ENST00000265074.8_3'UTR CTGATTTTGGGTGTGTGTGTGT 0.421 9 549 --- --- --- --- ANKHD1 54882 broad.mit.edu 37 5 139905676 139905676 + Frame_Shift_Del DEL A A - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr5:139905676delA ENST00000297183.6 + 26 4712 c.4588delA c.(4588-4590)aafs p.K1531fs ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGTTTGGGAAAAAAAGGGC 0.423 7 1231 --- --- --- --- PRPF4B 8899 broad.mit.edu 37 6 4031880 4031881 + Frame_Shift_Ins INS - - A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr6:4031880_4031881insA ENST00000337659.6 + 2 229_230 c.129_130insA c.(127-132)caaaaafs p.QK43fs PRPF4B_ENST00000538861.1_Frame_Shift_Ins_p.QK29fs NM_003913.4 NP_003904.3 Q13523 PRP4B_HUMAN pre-mRNA processing factor 4B 43 Arg/Lys-rich (basic).|His-rich. catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) ACAGTCGTCACaaaaaaaagaa 0.297 7 518 --- --- --- --- DEK 7913 broad.mit.edu 37 6 18264079 18264081 + In_Frame_Del DEL TCC TCC - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr6:18264079_18264081delTCC ENST00000397239.3 - 2 585_587 c.138_140delGGA c.(136-141)gaa>ga p.EE46del DEK_ENST00000244776.7_In_Frame_Del_p.EE46del NM_003472.3 NP_003463.1 P35659 DEK_HUMAN DEK oncogene 46 Asp/Glu-rich (highly acidic). chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) CCCACCTTTTtcctcctcctcct 0.532 T NUP214 AML 9 373 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26422388 26422390 + RNA DEL CCT CCT - rs113134648 TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr6:26422388_26422390delCCT ENST00000466808.2 + 0 42_44 GGCCAGCCTCCCTCCTCCTCCTC 0.586 13 468 --- --- --- --- HIST1H2BM 8342 broad.mit.edu 37 6 27782855 27782855 + Frame_Shift_Del DEL A A - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr6:27782855delA ENST00000359465.4 + 1 34 c.34delA c.(34-36)aafs p.K13fs NM_003521.2 NP_003512.1 Q99879 H2B1M_HUMAN histone cluster 1, H2bm 13 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2) 12 TCCAGTCCCTAAAAAAGGCTC 0.433 9 642 --- --- --- --- DNAH8 1769 broad.mit.edu 37 6 38816440 38816440 + Frame_Shift_Del DEL A A - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr6:38816440delA ENST00000359357.3 + 35 4665 c.4411delA c.(4411-4413)aafs p.K1472fs DNAH8_ENST00000449981.2_Frame_Shift_Del_p.K1689fs|DNAH8_ENST00000441566.1_Frame_Shift_Del_p.K1472fs dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TGCTCCATTTAAAAAAAATAT 0.343 7 336 --- --- --- --- TRERF1 55809 broad.mit.edu 37 6 42196333 42196333 + Frame_Shift_Del DEL T T - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr6:42196333delT ENST00000541110.1 - 18 3981 c.3413delA c.(3412-3414)agfs p.K1138fs TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 1118 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTTCTGAGCCTTTTGCCTCTG 0.542 7 2641 --- --- --- --- ZNF318 24149 broad.mit.edu 37 6 43308089 43308089 + Frame_Shift_Del DEL T T - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr6:43308089delT ENST00000361428.2 - 10 3724 c.3647delA c.(3646-3648)agfs p.K1216fs ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1216 Lys-rich. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) AGCCTTTGCCTTTTTTTCTTT 0.463 7 940 --- --- --- --- RUNX2 860 broad.mit.edu 37 6 45390446 45390448 + In_Frame_Del DEL CAG CAG - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr6:45390446_45390448delCAG ENST00000371438.1 + 2 533_535 c.175_177delCAG c.(175-177)del p.Q71del RUNX2_ENST00000352853.5_In_Frame_Del_p.Q139del|RUNX2_ENST00000541979.1_In_Frame_Del_p.Q139del|RUNX2_ENST00000359524.5_In_Frame_Del_p.Q57del|RUNX2_ENST00000576263.1_In_Frame_Del_p.Q71del|RUNX2_ENST00000465038.2_In_Frame_Del_p.Q71del|RUNX2_ENST00000371432.3_In_Frame_Del_p.Q57del|RUNX2_ENST00000371436.6_In_Frame_Del_p.Q71del NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 71 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 gcagcagcaacagcagcagcagc 0.729 8 156 --- --- --- --- PHIP 55023 broad.mit.edu 37 6 79655961 79655961 + Frame_Shift_Del DEL T T - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr6:79655961delT ENST00000275034.4 - 38 4554 c.4387delA c.(4387-4389)ggfs p.R1463fs PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1463 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TTTAAGATCCTTTTTTTCCTT 0.358 7 683 --- --- --- --- SOGA3 387104 broad.mit.edu 37 6 127804080 127804080 + Frame_Shift_Del DEL T T - rs34142169 TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr6:127804080delT ENST00000556132.1 - 5 2399 c.1535delA c.(1534-1536)agfs p.K512fs SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000525778.1_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000368268.2_Frame_Shift_Del_p.K512fs NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 512 integral to membrane CTGTTGAGCCTTTTTTTCAGA 0.294 8 717 --- --- --- --- SGK1 6446 broad.mit.edu 37 6 134493456 134493460 + Splice_Site DEL TGTAA TGTAA - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr6:134493456_134493460delTGTAA ENST00000367858.5 - 10 1545 c.e10-2 SGK1_ENST00000237305.7_Splice_Site|SGK1_ENST00000528577.1_Splice_Site|SGK1_ENST00000489458.2_Splice_Site|SGK1_ENST00000475719.2_Splice_Site|SGK1_ENST00000413996.3_Splice_Site|SGK1_ENST00000367857.5_Splice_Site NM_001143676.1 NP_001137148.1 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1) 46 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) TTTAAGTCTCTGTAAAAAAGTGAAT 0.356 82 233 --- --- --- --- ZDHHC4 55146 broad.mit.edu 37 7 6621848 6621849 + Frame_Shift_Ins INS - - T rs34551853 TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr7:6621848_6621849insT ENST00000396706.2 + 5 779_780 c.336_337insT c.(334-339)ctttttfs p.LF112fs ZDHHC4_ENST00000396713.2_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000405731.3_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396709.1_Frame_Shift_Ins_p.LF112fs|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396707.2_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000335965.6_Frame_Shift_Ins_p.LF112fs Q9NPG8 ZDHC4_HUMAN zinc finger, DHHC-type containing 4 112 integral to membrane acyltransferase activity|zinc ion binding p.F115fs*3(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) GTGTAAACCTGTTTTTTTTCAC 0.450 8 920 --- --- --- --- MPP6 51678 broad.mit.edu 37 7 24705665 24705666 + Frame_Shift_Ins INS - - A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr7:24705665_24705666insA ENST00000396475.2 + 9 1208_1209 c.909_910insA c.(907-912)agaaaafs p.RK303fs MPP6_ENST00000409761.1_Frame_Shift_Ins_p.RK191fs|MPP6_ENST00000222644.4_Frame_Shift_Ins_p.RK303fs NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 303 protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 CTATAAGTAGCAAAAAAAAGAA 0.302 9 1031 --- --- --- --- GTF2I 2969 broad.mit.edu 37 7 74114939 74114939 + Frame_Shift_Del DEL T T - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr7:74114939delT ENST00000324896.4 + 6 950 c.561delT c.(559-561)ccfs p.P187fs AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000346152.4_Frame_Shift_Del_p.P187fs|GTF2I_ENST00000416070.1_Frame_Shift_Del_p.P187fs|GTF2I_ENST00000443166.1_Frame_Shift_Del_p.P187fs|AC083884.8_ENST00000594967.1_RNA|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000353920.4_Frame_Shift_Del_p.P187fs NM_032999.2 NP_127492.1 P78347 GTF2I_HUMAN general transcription factor IIi 187 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 AATGCAGACCTTTTTTAGAGC 0.318 7 1029 --- --- --- --- DNAJC2 27000 broad.mit.edu 37 7 102964992 102964992 + Frame_Shift_Del DEL T T - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr7:102964992delT ENST00000379263.3 - 6 840 c.590delA c.(589-591)atfs p.N197fs PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Frame_Shift_Del_p.N197fs NM_014377.1 NP_055192.1 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 197 ZRF1-UBD. 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 TTTAGGAACATTTTTTTTATT 0.239 7 718 --- --- --- --- OR9A4 130075 broad.mit.edu 37 7 141619203 141619203 + Frame_Shift_Del DEL T T - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr7:141619203delT ENST00000548136.1 + 1 587 c.528delT c.(526-528)aafs p.N176fs MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) TGGTGAACAATTTTTTTTGTG 0.383 10 1023 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481743 142481745 + RNA DEL CTA CTA - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr7:142481743_142481745delCTA ENST00000603901.1 + 0 454 NR_001296.3 ACCCACATTTCTACTTTCTTTAT 0.517 14 414 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481996 142481997 + RNA INS - - C TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr7:142481996_142481997insC ENST00000603901.1 + 0 591 NR_001296.3 TCCCAAGGTGGGGGGCTGAGGA 0.564 23 125 --- --- --- --- ANGPT2 285 broad.mit.edu 37 8 6378797 6378798 + Frame_Shift_Ins INS - - T rs34047276 TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr8:6378797_6378798insT ENST00000325203.5 - 4 1174_1175 c.700_701insA c.(700-702)agtfs p.S234fs ANGPT2_ENST00000523120.1_Frame_Shift_Ins_p.S234fs|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000415216.1_Frame_Shift_Ins_p.S234fs|ANGPT2_ENST00000338312.6_Frame_Shift_Ins_p.S182fs O15123 ANGP2_HUMAN angiopoietin 2 234 angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) GGCAGTCACTATTTTTTTTTCT 0.366 12 471 --- --- --- --- CHD7 55636 broad.mit.edu 37 8 61769038 61769040 + In_Frame_Del DEL GGA GGA - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr8:61769038_61769040delGGA ENST00000423902.2 + 34 7678_7680 c.7199_7201delGGA c.(7198-7203)cgg>c p.RR2404del CHD7_ENST00000524602.1_Intron|CHD7_ENST00000529472.1_3'UTR NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2404 Poly-Arg. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CCTCGCCAGCGGAGGAGGAGGAG 0.512 8 153 --- --- --- --- ASPH 444 broad.mit.edu 37 8 62588724 62588726 + In_Frame_Del DEL TTC TTC - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr8:62588724_62588726delTTC ENST00000379449.6 - 5 694_696 c.520_522delGAA c.(520-522)del p.E174del ASPH_ENST00000389204.4_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000517661.1_In_Frame_Del_p.E145del|ASPH_ENST00000379454.4_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000522603.1_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000541428.1_Intron NM_001164756.1 NP_001158228.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 0 Glu-rich. muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) CGGTTTCGCTTTCTTCTTCTTCT 0.369 8 449 --- --- --- --- C8orf59 401466 broad.mit.edu 37 8 86129664 86129664 + Frame_Shift_Del DEL T T - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr8:86129664delT ENST00000417663.2 - 2 136 c.65delA c.(64-66)acfs p.N22fs C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1 NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1 Q8N0T1 CH059_HUMAN chromosome 8 open reading frame 59 22 AGCCTTAAAGTTTTTTTGGCT 0.343 7 798 --- --- --- --- SLC26A7 115111 broad.mit.edu 37 8 92378867 92378867 + Frame_Shift_Del DEL A A - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr8:92378867delA ENST00000276609.3 + 14 1787 c.1548delA c.(1546-1548)gcfs p.A516fs SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.A516fs|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.A516fs NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 516 STAS. basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) TCCTGAATGCAAAAAAATTTT 0.348 8 1018 --- --- --- --- DCAF13 25879 broad.mit.edu 37 8 104439486 104439487 + Frame_Shift_Ins INS - - T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr8:104439486_104439487insT ENST00000521971.1 + 4 590_591 c.510_511insT c.(508-513)atttttfs p.IF170fs DCAF13_ENST00000519682.1_Frame_Shift_Ins_p.IF206fs|DCAF13_ENST00000297579.5_Intron|DCAF13_ENST00000521999.1_Intron Q9NV06 DCA13_HUMAN DDB1 and CUL4 associated factor 13 0 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 TTGAGGTAATGTTTTTTTTTAA 0.277 7 324 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110455173 110455174 + Splice_Site INS - - G TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr8:110455173_110455174insG ENST00000378402.5 + 36 4497 c.e36-1 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTATGGCAGGTTCATTTTC 0.322 HNSCC(38;0.096) 8 451 --- --- --- --- ATAD2 29028 broad.mit.edu 37 8 124368685 124368685 + Frame_Shift_Del DEL A A - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr8:124368685delA ENST00000287394.5 - 13 1697 c.1590delT c.(1588-1590)ttfs p.F530fs ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CAATTTCGTCAAAAAAAATAA 0.413 8 413 --- --- --- --- ANXA13 312 broad.mit.edu 37 8 124707761 124707762 + Frame_Shift_Ins INS - - T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr8:124707761_124707762insT ENST00000262219.6 - 7 641_642 c.574_575insA c.(574-576)cctfs p.P192fs ANXA13_ENST00000419625.1_Frame_Shift_Ins_p.P151fs NM_001003954.1 NP_001003954.1 P27216 ANX13_HUMAN annexin A13 151 cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 25 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) AGACACCAGGATTTTTTTTAGG 0.411 8 1063 --- --- --- --- CYP11B1 0 broad.mit.edu 37 8 143956378 143956380 + In_Frame_Del DEL GCA GCA - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr8:143956378_143956380delGCA ENST00000292427.4 - 8 1423_1425 c.1391_1393delTGC c.(1390-1395)cac>c p.LH464del CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_In_Frame_Del_p.LH535del NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 464 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) CTCACATGGTGCAGCAGCAGCAG 0.680 Familial Hyperaldosteronism type I 7 360 --- --- --- --- ROR2 4920 broad.mit.edu 37 9 94486026 94486028 + In_Frame_Del DEL TCC TCC - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr9:94486026_94486028delTCC ENST00000375708.3 - 9 2946_2948 c.2748_2750delGGA c.(2746-2751)gaa>ga p.EE916del ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 916 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GACAGAGCCTTCCTCCTCCTCCT 0.645 7 524 --- --- --- --- FAM171A1 221061 broad.mit.edu 37 10 15254987 15254989 + In_Frame_Del DEL TCA TCA - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr10:15254987_15254989delTCA ENST00000378116.4 - 8 2604_2606 c.2598_2600delTGA c.(2596-2601)gac>ga p.DD866del NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 866 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 TTCTCCTTGGTCATCATCATCAT 0.571 7 697 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81070787 81070789 + In_Frame_Del DEL CTC CTC - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr10:81070787_81070789delCTC ENST00000334512.5 + 24 3514_3516 c.2942_2944delCTC c.(2941-2946)gct>g p.AP981del ZMIZ1_ENST00000446377.2_Intron NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 981 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CACAGTGGGGCTCCTCCTCCTCC 0.635 7 623 --- --- --- --- NOLC1 9221 broad.mit.edu 37 10 103919000 103919002 + In_Frame_Del DEL AGC AGC - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr10:103919000_103919002delAGC ENST00000405356.1 + 6 893_895 c.658_660delAGC c.(658-660)del p.S227del NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del|NOLC1_ENST00000603742.1_5'UTR Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 227 11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) tagcagcagtagcagcagcagca 0.517 9 812 --- --- --- --- UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG TGG - rs2234451 byFrequency TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr11:5529918_5529920delTGG ENST00000311659.4 - 2 1016_1018 c.869_871delCCA c.(868-873)agc>a p.TS290del HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 290 T -> S (in dbSNP:rs2234451). NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGTTGGCTGGTGGTGGTGGT 0.537 9 460 --- --- --- --- OR10A2 341276 broad.mit.edu 37 11 6891253 6891255 + In_Frame_Del DEL TTC TTC - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr11:6891253_6891255delTTC ENST00000307322.4 + 1 330_332 c.268_270delTTC c.(268-270)del p.F94del NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TCAGATGTATTTCTTCTTCTTCT 0.517 8 533 --- --- --- --- TMEM41B 440026 broad.mit.edu 37 11 9304991 9304992 + Frame_Shift_Ins INS - - T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr11:9304991_9304992insT ENST00000528080.1 - 7 1193_1194 c.855_856insA c.(853-858)aataaafs p.NK285fs NM_015012.3 NP_055827.1 Q5BJD5 TM41B_HUMAN transmembrane protein 41B 285 integral to membrane kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2) 7 all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972) TTCTGCTTTAGTTTTTTTTGGA 0.342 7 273 --- --- --- --- PAK1 5058 broad.mit.edu 37 11 77069990 77069992 + In_Frame_Del DEL CAT CAT - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr11:77069990_77069992delCAT ENST00000356341.3 - 6 1079_1081 c.548_550delATG c.(547-552)gct>g p.DA183del PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000525542.1_5'UTR NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 183 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) GGTGGGGTAGcatcatcatcatc 0.478 12 563 --- --- --- --- C11orf54 28970 broad.mit.edu 37 11 93486914 93486914 + Frame_Shift_Del DEL A A - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr11:93486914delA ENST00000528288.1 + 4 456 c.221delA c.(220-222)cafs p.Q74fs C11orf54_ENST00000528099.1_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000354421.3_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000331239.4_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000540113.1_Frame_Shift_Del_p.Q55fs NM_014039.2 NP_054758.2 Q9H0W9 CK054_HUMAN chromosome 11 open reading frame 54 74 nucleus hydrolase activity, acting on ester bonds|protein binding|zinc ion binding NS(1)|endometrium(1)|large_intestine(1)|lung(5) 8 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CTTGTAAACCAAAAAAAAGTA 0.353 7 289 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102743846 102743847 + RNA INS - - A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr11:102743846_102743847insA ENST00000532855.1 - 0 199 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AGTATCTCTGGAAAAAAAAATA 0.332 7 135 --- --- --- --- OR8D4 338662 broad.mit.edu 37 11 123777441 123777442 + Frame_Shift_Ins INS - - T rs79561639 byFrequency TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr11:123777441_123777442insT ENST00000321355.2 + 1 333_334 c.303_304insT c.(301-306)ctttttfs p.LF101fs NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TGATTCAGCTGTTTTTTTTCTG 0.436 10 1059 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46318575 46318577 + In_Frame_Del DEL GGT GGT - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr12:46318575_46318577delGGT ENST00000465950.1 - 2 4104_4106 c.2895_2897delACC c.(2893-2898)ccc>cc p.PP969del SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del|SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 1284 Arg-rich. spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 TGGGGGAGGGGGTGGTGGTGGTG 0.483 9 407 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 8 981 --- --- --- --- B4GALNT1 2583 broad.mit.edu 37 12 58025102 58025103 + Frame_Shift_Ins INS - - C TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr12:58025102_58025103insC ENST00000341156.4 - 3 847_848 c.263_264insG c.(262-264)gctfs p.A88fs B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.A88fs NM_001478.3 NP_001469.1 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 88 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity p.G88fs*24(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) GGAGGGGGAGGCCCCCCCCACT 0.589 8 506 --- --- --- --- SYCP3 50511 broad.mit.edu 37 12 102122901 102122901 + Frame_Shift_Del DEL T T - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr12:102122901delT ENST00000392927.3 - 8 774 c.643delA c.(643-645)ttfs p.I215fs SYCP3_ENST00000392924.1_Frame_Shift_Del_p.I215fs|SYCP3_ENST00000266743.2_Frame_Shift_Del_p.I215fs NM_001177948.1|NM_001177949.1|NM_153694.4 NP_001171419.1|NP_001171420.1|NP_710161.1 Q8IZU3 SYCP3_HUMAN synaptonemal complex protein 3 215 Gln-rich. cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins nucleus DNA binding endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 TCCATCATAATTTTTTTTTGC 0.259 13 371 --- --- --- --- VPS29 51699 broad.mit.edu 37 12 110930880 110930881 + Frame_Shift_Del DEL TG TG - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr12:110930880_110930881delTG ENST00000549578.1 - 3 416_417 c.351_352delCA c.(349-354)caaafs p.HK117fs VPS29_ENST00000360579.7_Frame_Shift_Del_p.HK121fs|VPS29_ENST00000447578.2_Frame_Shift_Del_p.HK22fs|VPS29_ENST00000549970.1_Frame_Shift_Del_p.HK22fs|VPS29_ENST00000546588.1_Frame_Shift_Del_p.HK149fs|VPS29_ENST00000552130.2_Frame_Shift_Del_p.HK22fs NM_016226.3 NP_057310.1 Q9UBQ0 VPS29_HUMAN vacuolar protein sorting 29 homolog (S. cerevisiae) 117 protein transport endosome membrane metal ion binding|phosphoserine phosphatase activity kidney(1)|large_intestine(1)|lung(1)|prostate(1) 4 GCTTCAAATTTGTGTGTGTGTC 0.421 7 377 --- --- --- --- DDX55 57696 broad.mit.edu 37 12 124103201 124103202 + Translation_Start_Site DEL TG TG - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr12:124103201_124103202delTG ENST00000421670.3 + 0 639_640 DDX55_ENST00000238146.4_Intron|DDX55_ENST00000538744.1_Intron|DDX55_ENST00000541259.1_Intron Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) GAATGTGGTATGTGTGTGTGTG 0.520 OREG0022230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 222 --- --- --- --- ZMYM5 9205 broad.mit.edu 37 13 20426143 20426145 + In_Frame_Del DEL CAT CAT - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr13:20426143_20426145delCAT ENST00000337963.4 - 3 440_442 c.176_178delATG c.(175-180)gtt>g p.DV59del ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 59 Poly-Asp. nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) ATAAACACAAcatcatcatcatc 0.379 7 526 --- --- --- --- MRPS31 10240 broad.mit.edu 37 13 41331010 41331010 + Splice_Site DEL T T - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr13:41331010delT ENST00000323563.6 - 4 775 c.740_splice c.e4+1 p.R247_splice NM_005830.3 NP_005821.2 Q92665 RT31_HUMAN mitochondrial ribosomal protein S31 247 mitochondrion|ribosome protein domain specific binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706) GCCTGATACCTTTTTTTAAGA 0.393 8 400 --- --- --- --- RP11-394A14.2 0 broad.mit.edu 37 13 64407210 64407211 + RNA INS - - TACTGTCAG TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr13:64407210_64407211insTACTGTCAG ENST00000607822.1 - 0 2159 AGACCTTTATATAATTGCCAAA 0.366 9 522 --- --- --- --- KDELC1 79070 broad.mit.edu 37 13 103443722 103443722 + Frame_Shift_Del DEL T T - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr13:103443722delT ENST00000376004.4 - 5 1067 c.731delA c.(730-732)agfs p.K245fs KDELC1_ENST00000460338.1_5'UTR NM_024089.2 NP_076994.2 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 245 endoplasmic reticulum lumen central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) ATTGGATTTCTTTTTTTCCAA 0.418 7 1568 --- --- --- --- ATG2B 55102 broad.mit.edu 37 14 96783571 96783572 + Frame_Shift_Ins INS - - T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr14:96783571_96783572insT ENST00000359933.4 - 20 4013_4014 c.3120_3121insA c.(3118-3123)aatagafs p.NR1040fs NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1040 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TGAGAGTCTAATTTTTTTTTCC 0.371 10 418 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23312380 23312380 + RNA DEL T T - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr15:23312380delT ENST00000560464.1 - 0 3118 TGTTAttttcttttttttttt 0.398 10 73 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23331163 23331163 + RNA DEL A A - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr15:23331163delA ENST00000560464.1 - 0 908 AATAAATACTAAAAAAAAAAA 0.368 7 62 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25456925 25456925 + RNA DEL G G - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr15:25456925delG ENST00000424208.1 + 0 2516 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 TGTGTGGGCAGGGGGGGTGCC 0.557 8 1173 --- --- --- --- FAN1 22909 broad.mit.edu 37 15 31196894 31196894 + Frame_Shift_Del DEL A A - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr15:31196894delA ENST00000362065.4 + 2 319 c.28delA c.(28-30)aafs p.K11fs FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 11 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 ACCTCCTGACAAAAAAAGGCC 0.353 Direct reversal of damage 11 1010 --- --- --- --- ADAL 161823 broad.mit.edu 37 15 43641115 43641115 + Frame_Shift_Del DEL A A - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr15:43641115delA ENST00000422466.2 + 11 1218 c.644delA c.(643-645)cafs p.Q215fs ADAL_ENST00000389651.4_Frame_Shift_Del_p.Q215fs|ADAL_ENST00000562188.1_Frame_Shift_Del_p.Q215fs|ADAL_ENST00000428046.3_Frame_Shift_Del_p.Q188fs Q6DHV7 ADAL_HUMAN adenosine deaminase-like 215 adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process adenosine deaminase activity|metal ion binding endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1) 7 all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;9.31e-07) ATTCCAAACCAAAAAAAAGAA 0.453 7 475 --- --- --- --- ZNF609 23060 broad.mit.edu 37 15 64972995 64972997 + In_Frame_Del DEL CAC CAC - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr15:64972995_64972997delCAC ENST00000326648.3 + 7 4224_4226 c.4096_4098delCAC c.(4096-4098)del p.H1371del NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 1371 Poly-His. nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GATGTCCACACACCACCACCACC 0.591 7 620 --- --- --- --- NOX5 79400 broad.mit.edu 37 15 69328208 69328210 + In_Frame_Del DEL CTG CTG - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr15:69328208_69328210delCTG ENST00000260364.5 + 8 1367_1369 c.1066_1068delCTG c.(1066-1068)del p.L362del NOX5_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000388866.3_In_Frame_Del_p.L380del|NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 380 Ferric oxidoreductase. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 AGGTGTCGCTCTGCTGCTGCTGC 0.626 7 1081 --- --- --- --- IQGAP1 8826 broad.mit.edu 37 15 91019925 91019925 + Frame_Shift_Del DEL A A - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr15:91019925delA ENST00000268182.5 + 24 2939 c.2815delA c.(2815-2817)aafs p.K940fs IQGAP1_ENST00000560738.1_Frame_Shift_Del_p.K368fs NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 940 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) AAAACTTACCAAAAAAAATAA 0.363 8 882 --- --- --- --- VPS33B 26276 broad.mit.edu 37 15 91550236 91550238 + In_Frame_Del DEL TCC TCC - rs147271815 TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr15:91550236_91550238delTCC ENST00000333371.3 - 9 995_997 c.642_644delGGA c.(640-645)gat>ga p.ED214del VPS33B_ENST00000535906.1_In_Frame_Del_p.ED187del|VPS33B_ENST00000535843.1_In_Frame_Del_p.ED123del NM_018668.3 NP_061138.3 Q9H267 VP33B_HUMAN vacuolar protein sorting 33 homolog B (yeast) 214 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2) 16 Lung NSC(78;0.0987)|all_lung(78;0.175) GGTTTCGCCATCCTCCTCCTCCT 0.522 10 738 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974510 93974510 + RNA DEL C C - rs57286078 TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr15:93974510delC ENST00000543286.1 + 0 545 TGGCTGGGTTCtttttttttt 0.433 12 168 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102304934 102304936 + RNA DEL TCT TCT - rs72450638 TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr15:102304934_102304936delTCT ENST00000561463.1 + 0 12980_12982 AAGGAGTTCATCTTCTCAGAGCT 0.586 7 119 --- --- --- --- Z84812.4 0 broad.mit.edu 37 16 81973 81974 + RNA INS - - GTCC TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr16:81973_81974insGTCC ENST00000568710.1 - 0 349 ATCAGCAGGAGGCCCACCTCGT 0.614 13 83 --- --- --- --- RAB40C 57799 broad.mit.edu 37 16 677580 677580 + Frame_Shift_Del DEL C C - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr16:677580delC ENST00000535977.1 + 7 1026 c.804delC c.(802-804)agfs p.S268fs RAB40C_ENST00000539661.1_Frame_Shift_Del_p.S268fs|RAB40C_ENST00000538492.1_Frame_Shift_Del_p.S268fs|RAB40C_ENST00000248139.3_Frame_Shift_Del_p.S268fs NM_001172663.1 NP_001166134.1 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 268 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding p.Q271fs*7(1) NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 6 Hepatocellular(780;0.0218) CACCCCAGAGCCCCCCCCAGA 0.682 7 343 --- --- --- --- ZNF75A 7627 broad.mit.edu 37 16 3367275 3367275 + Frame_Shift_Del DEL A A - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr16:3367275delA ENST00000574298.1 + 6 770 c.297delA c.(295-297)tcfs p.S99fs ZNF75A_ENST00000498240.2_3'UTR NM_153028.2 NP_694573.1 Q96N20 ZN75A_HUMAN zinc finger protein 75a 99 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(7)|prostate(1) 12 GCGTCATATCAAAAAAGGCCA 0.393 7 824 --- --- --- --- UBN1 29855 broad.mit.edu 37 16 4910691 4910693 + In_Frame_Del DEL AGA AGA - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr16:4910691_4910693delAGA ENST00000396658.4 + 6 1401_1403 c.698_700delAGA c.(697-702)gag>g p.EK233del UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 233 Lys-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.K234E(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 GCCAGTAAGGAGAAGAAGAAGAA 0.453 14 1101 --- --- --- --- RRN3P1 0 broad.mit.edu 37 16 21817398 21817399 + RNA INS - - A rs144931984 by1000genomes TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr16:21817398_21817399insA ENST00000546471.1 - 0 1607 TAAATGaaaataaaaaaataaa 0.302 21 78 --- --- --- --- SRCAP 10847 broad.mit.edu 37 16 30736370 30736371 + Frame_Shift_Ins INS - - C TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr16:30736370_30736371insC ENST00000262518.4 + 25 6010_6011 c.5625_5626insC c.(5623-5628)caccccfs p.HP1875fs SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.HP1813fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.HP1717fs NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1875 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CTCGACGCCAGCCCCCCCCACC 0.569 12 545 --- --- --- --- NOB1 28987 broad.mit.edu 37 16 69782978 69782980 + In_Frame_Del DEL TCC TCC - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr16:69782978_69782980delTCC ENST00000268802.5 - 6 596_598 c.567_569delGGA c.(565-570)gaa>ga p.EE189del NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 189 Poly-Glu. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCCGTTTTCTTCCTCCTCCTCCT 0.522 11 323 --- --- --- --- TERF2IP 54386 broad.mit.edu 37 16 75690204 75690206 + In_Frame_Del DEL GAA GAA - rs140846731 TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr16:75690204_75690206delGAA ENST00000300086.4 + 3 992_994 c.895_897delGAA c.(895-897)del p.E304del NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 304 Asp/Glu-rich (acidic). negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 TGATgaggaggaagaagaagaag 0.424 21 386 --- --- --- --- RP11-150D5.2 0 broad.mit.edu 37 16 76268905 76268905 + RNA DEL T T - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr16:76268905delT ENST00000568714.1 - 0 135 ttttcttttctttttttttGC 0.418 7 238 --- --- --- --- TCF25 22980 broad.mit.edu 37 16 89951019 89951020 + Frame_Shift_Ins INS - - A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr16:89951019_89951020insA ENST00000263346.8 + 3 440_441 c.384_385insA c.(382-387)aaaaaafs p.KK128fs TCF25_ENST00000563406.1_3'UTR NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 128 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) TCCGGAAGAAGAAAAAAAAACA 0.446 8 132 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7496121 7496122 + Frame_Shift_Ins INS - - G TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr17:7496121_7496122insG ENST00000250113.7 - 14 1953_1954 c.1619_1620insC c.(1618-1620)cgcfs p.R540fs NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 540 cytosolic large ribosomal subunit protein binding|RNA binding p.P540fs*32(1)|p.A541fs*14(1) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) TGGCACTTGCTGGGGGGGGTTC 0.609 7 248 --- --- --- --- PIK3R5 23533 broad.mit.edu 37 17 8792116 8792118 + In_Frame_Del DEL CCT CCT - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr17:8792116_8792118delCCT ENST00000447110.1 - 10 1110_1112 c.986_988delAGG c.(985-990)gtg>g p.EV329del PIK3R5_ENST00000584803.1_In_Frame_Del_p.EV329del|PIK3R5_ENST00000581552.1_In_Frame_Del_p.EV329del NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 329 DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 tcctcctccacctcctcctcctc 0.571 8 169 --- --- --- --- MED9 55090 broad.mit.edu 37 17 17394705 17394707 + In_Frame_Del DEL CAG CAG - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr17:17394705_17394707delCAG ENST00000268711.3 + 2 393_395 c.337_339delCAG c.(337-339)del p.Q117del NM_018019.2 NP_060489.1 Q9NWA0 MED9_HUMAN mediator complex subunit 9 117 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent protein binding cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GAGCCCCGAACAGCAGCAGCAGC 0.581 7 517 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141017 66141017 + RNA DEL C C - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr17:66141017delC ENST00000590019.1 - 0 70 AAGATTTCTACAAAAAAAAAA 0.323 9 453 --- --- --- --- TNRC6C 57690 broad.mit.edu 37 17 76046980 76046980 + Frame_Shift_Del DEL A A - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr17:76046980delA ENST00000335749.4 + 3 2406 c.1837delA c.(1837-1839)aafs p.K614fs TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 614 Sufficient for interaction with argonaute family proteins. 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) GGGGGATGGGAAAAAAAATGG 0.522 8 533 --- --- --- --- MBD3 53615 broad.mit.edu 37 19 1578372 1578374 + In_Frame_Del DEL CTC CTC - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr19:1578372_1578374delCTC ENST00000590550.2 - 5 1046_1048 c.673_675delGAG c.(673-675)del p.E225del MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|MBD3_ENST00000434436.3_In_Frame_Del_p.E281del O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 281 transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGGTCGGGctcctcctcctcc 0.714 8 189 --- --- --- --- NWD1 284434 broad.mit.edu 37 19 16908642 16908642 + Frame_Shift_Del DEL T T - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr19:16908642delT ENST00000524140.2 + 16 3822 c.3404delT c.(3403-3405)gtfs p.V1135fs NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs|NWD1_ENST00000552788.1_Frame_Shift_Del_p.V1135fs NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1135 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GAGACGGCTGTTTTTGGTACT 0.552 7 1648 --- --- --- --- ZNF567 163081 broad.mit.edu 37 19 37210374 37210375 + Frame_Shift_Ins INS - - A TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr19:37210374_37210375insA ENST00000585696.1 + 3 1885_1886 c.655_656insA c.(655-657)aaafs p.K219fs ZNF567_ENST00000360729.4_Frame_Shift_Ins_p.K219fs|ZNF567_ENST00000392163.2_Frame_Shift_Ins_p.K219fs|ZNF567_ENST00000536254.2_Frame_Shift_Ins_p.K250fs|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Frame_Shift_Ins_p.K219fs Q8N184 ZN567_HUMAN zinc finger protein 567 250 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AACCAATATTGAAAAAAAACAT 0.351 7 303 --- --- --- --- CD3EAP 10849 broad.mit.edu 37 19 45911859 45911861 + In_Frame_Del DEL GAA GAA - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr19:45911859_45911861delGAA ENST00000309424.3 + 3 1121_1123 c.633_635delGAA c.(631-636)cgg>cg p.RK211del ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 211 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) TGGATGTGCGGAAGAAGAAGAAG 0.581 12 490 --- --- --- --- FUZ 80199 broad.mit.edu 37 19 50310483 50310485 + In_Frame_Del DEL CAG CAG - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr19:50310483_50310485delCAG ENST00000313777.4 - 11 1343_1345 c.1180_1182delCTG c.(1180-1182)del p.L394del FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000445575.2_Intron NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 394 Leu-rich. cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) TCTGGGGAGACAGCAGCAGCAGC 0.635 8 238 --- --- --- --- CTD-2616J11.14 0 broad.mit.edu 37 19 51906669 51906670 + RNA INS - - T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr19:51906669_51906670insT ENST00000600765.1 + 0 324_325 GGTTGTTCTTGTTTTTTTTGCT 0.446 9 262 --- --- --- --- MIR525 0 broad.mit.edu 37 19 54200830 54200830 + RNA DEL A A - rs80268200 TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr19:54200830delA ENST00000384978.1 + 0 44 NR_030192.1 CTCTTATGTGAAAAAAAAGAA 0.423 9 584 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr19:54675747_54675749delTCC ENST00000376591.4 - 2 332_334 c.201_203delGGA c.(199-204)gat>ga p.ED67del TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 67 Poly-Glu. integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTTCCTCCATCCTCCTCCTCCT 0.645 10 363 --- --- --- --- LILRB3 11025 broad.mit.edu 37 19 54721186 54721186 + Splice_Site DEL A A - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr19:54721186delA ENST00000391750.1 - 13 1886 c.e13+1 LILRB3_ENST00000346401.6_Splice_Site|LILRB3_ENST00000245620.9_Splice_Site|LILRB3_ENST00000424807.1_Splice_Site|LILRB3_ENST00000469273.1_Splice_Site|LILRA6_ENST00000419410.2_Splice_Site|LILRB3_ENST00000407860.2_Splice_Site|LILRA6_ENST00000391735.3_Splice_Site|LILRA6_ENST00000440558.2_Splice_Site|LILRA6_ENST00000270464.5_Splice_Site O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GAAAGGACTCACCTCAGTGTC 0.607 7 198 --- --- --- --- SLC23A2 9962 broad.mit.edu 37 20 4850569 4850569 + Frame_Shift_Del DEL G G - rs138961929 TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr20:4850569delG ENST00000379333.1 - 12 1625 c.1233delC c.(1231-1233)ccfs p.P411fs SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 411 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity p.I412fs*4(1) endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TTGCGTGGATGGGGGGGGGTG 0.527 16 254 --- --- --- --- DSTN 11034 broad.mit.edu 37 20 17581679 17581680 + Frame_Shift_Ins INS - - T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr20:17581679_17581680insT ENST00000246069.6 + 2 646_647 c.300_301insT c.(298-303)atttttfs p.IF100fs DSTN_ENST00000474024.1_3'UTR|DSTN_ENST00000543261.1_Frame_Shift_Ins_p.IF83fs NM_006870.3 NP_006861.1 P60981 DEST_HUMAN destrin (actin depolymerizing factor) 100 ADF-H. actin filament severing|actin polymerization or depolymerization actin binding endometrium(1)|large_intestine(5)|lung(8)|skin(1) 15 AAGAGTTGATGTTTTTTTTGTG 0.356 9 450 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21143813 21143814 + RNA INS - - T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr20:21143813_21143814insT ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA AAGCCATTCAATTTTTTTTTTC 0.371 12 380 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29628310 29628312 + In_Frame_Del DEL AGG AGG - rs111939959 TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr20:29628310_29628312delAGG ENST00000278882.3 + 6 692_694 c.312_314delAGG c.(310-315)gca>gc p.AG104del FRG1B_ENST00000439954.2_In_Frame_Del_p.AG109del|FRG1B_ENST00000358464.4_In_Frame_Del_p.AG104del endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTAAAACAGCAGGAGAAGAAGAA 0.355 8 488 --- --- --- --- SALL4 57167 broad.mit.edu 37 20 50408346 50408348 + In_Frame_Del DEL GCT GCT - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr20:50408346_50408348delGCT ENST00000217086.4 - 2 785_787 c.674_676delAGC c.(673-678)cta>c p.QL225del SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_In_Frame_Del_p.QL225del NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 225 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ATCTGCTGTAGCTGCTGCTGCTG 0.645 8 341 --- --- --- --- AP001255.2 0 broad.mit.edu 37 21 24474307 24474308 + RNA DEL AA AA - rs58069067 TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr21:24474307_24474308delAA ENST00000421604.1 + 0 297 catttctactaaaaaaaaaaaa 0.490 4 8 --- --- --- --- PTTG1IP 754 broad.mit.edu 37 21 46276194 46276196 + In_Frame_Del DEL GCA GCA - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr21:46276194_46276196delGCA ENST00000330938.3 - 4 581_583 c.361_363delTGC c.(361-363)del p.C121del PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000494690.1_5'UTR NM_004339.3 NP_004330.1 P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 121 Poly-Cys. protein import into nucleus cytoplasm|integral to membrane|nucleus ovary(1)|prostate(1) 2 Colorectal(79;0.0659) TCTTCCTCCTGCAGCAGCAGCAG 0.616 7 284 --- --- --- --- RANGAP1 5905 broad.mit.edu 37 22 41650469 41650471 + In_Frame_Del DEL TCC TCC - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chr22:41650469_41650471delTCC ENST00000455915.2 - 10 2570_2572 c.1101_1103delGGA c.(1099-1104)gaa>ga p.EE367del RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del P46060 RAGP1_HUMAN Ran GTPase activating protein 1 367 Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ctcttctccttcctcctcctcct 0.562 8 524 --- --- --- --- TXLNG 55787 broad.mit.edu 37 X 16850849 16850850 + Frame_Shift_Del DEL AG AG - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chrX:16850849_16850850delAG ENST00000380122.5 + 6 1029_1030 c.968_969delAG c.(967-969)cfs p.Q323fs TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma 323 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 GAAAAACATCAGAGAGAGAGAG 0.386 9 507 --- --- --- --- CNKSR2 22866 broad.mit.edu 37 X 21627678 21627680 + In_Frame_Del DEL GAG GAG - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chrX:21627678_21627680delGAG ENST00000425654.2 + 19 3025_3027 c.2545_2547delGAG c.(2545-2547)del p.E856del CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 886 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 ggtggaggaagaggaggaggagg 0.517 7 181 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70360648 70360650 + In_Frame_Del DEL CAG CAG - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chrX:70360648_70360650delCAG ENST00000333646.6 + 42 6416_6418 c.6217_6219delCAG c.(6217-6219)del p.Q2079del MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del|MED12_ENST00000374080.3_In_Frame_Del_p.Q2076del|MED12_ENST00000478889.1_3'UTR NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 2076 Gln-rich. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) gcaacagcaacagcagcagcagc 0.621 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 7 201 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76920173 76920173 + Frame_Shift_Del DEL T T - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chrX:76920173delT ENST00000373344.5 - 11 4118 c.3904delA c.(3904-3906)gafs p.R1302fs ATRX_ENST00000395603.3_Frame_Shift_Del_p.R1264fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1302 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.R1302fs*7(1)|p.?(1)|p.R1302fs*44(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTTCCAGTTCTTTTTTTCCCT 0.378 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 8 902 --- --- --- --- ZBTB33 10009 broad.mit.edu 37 X 119388276 119388278 + In_Frame_Del DEL GAT GAT - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chrX:119388276_119388278delGAT ENST00000326624.2 + 2 1234_1236 c.1006_1008delGAT c.(1006-1008)del p.D340del ZBTB33_ENST00000557385.1_In_Frame_Del_p.D340del NM_006777.3 NP_006768.1 Q86T24 KAISO_HUMAN zinc finger and BTB domain containing 33 340 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 26 GGAAATAATAGATGATGATGATG 0.433 10 679 --- --- --- --- HTATSF1 27336 broad.mit.edu 37 X 135585048 135585050 + In_Frame_Del DEL AAG AAG - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chrX:135585048_135585050delAAG ENST00000535601.1 + 6 1104_1106 c.682_684delAAG c.(682-684)del p.K232del HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 232 Poly-Lys. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) TGATGCCTCAAAGAAGAAGAAGA 0.335 8 655 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149937526 149937528 + In_Frame_Del DEL GGC GGC - rs7877654 byFrequency TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chrX:149937526_149937528delGGC ENST00000370377.3 - 11 885_887 c.768_770delGCC c.(766-771)ccc>cc p.PP256del CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000346693.4_5'UTR NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 256 Poly-Pro. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGCTGGTTCGGGCGGCGGCGGCG 0.611 7 955 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149984524 149984526 + In_Frame_Del DEL GTG GTG - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chrX:149984524_149984526delGTG ENST00000370377.3 - 3 273_275 c.156_158delCAC c.(154-159)aca>ac p.TT52del CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 52 Poly-Thr. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCTATTGGTTGTGGTGGTGGTGG 0.552 7 1048 --- --- --- --- F8 2157 broad.mit.edu 37 X 154157980 154157980 + Frame_Shift_Del DEL T T - TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chrX:154157980delT ENST00000360256.4 - 14 4285 c.4085delA c.(4084-4086)acfs p.N1362fs NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1362 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) ATGTTTCATGTTTTTGGACCA 0.438 10 1732 --- --- --- --- F8 2157 broad.mit.edu 37 X 154158427 154158428 + Frame_Shift_Ins INS - - T TCGA-S4-A8RP-01A-11D-A36O-08 TCGA-S4-A8RP-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 317e480a-3ba4-44b1-9920-557bc1b4c4ee 5f6753a1-efa7-4751-b4ae-2b230620b524 g.chrX:154158427_154158428insT ENST00000360256.4 - 14 3837_3838 c.3637_3638insA c.(3637-3639)tcafs p.S1213fs NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1213 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TTCTTCCTGAATTTTTTTTTCT 0.327 8 353 --- --- --- ---