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 SETX 23064 broad.mit.edu 37 9 135140069 135140069 + Missense_Mutation SNP G G C TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr9:135140069G>C ENST00000372169.2 - 27 7860 c.7678C>G c.(7678-7680)Cct>Gct p.P2560A SETX_ENST00000393220.1_Missense_Mutation_p.P2498A|SETX_ENST00000477049.1_5'UTR|SETX_ENST00000224140.5_Missense_Mutation_p.P2531A Q7Z333 SETX_HUMAN senataxin 2531 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TCATGAACAGGAGGTCTTTCA 0.488000 3 109 0 0 0.004672 0 0 VCP 7415 broad.mit.edu 37 9 35065309 35065309 + Missense_Mutation SNP G G A TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr9:35065309G>A ENST00000358901.6 - 5 1410 c.515C>T c.(514-516)cCt>cTt p.P172L NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 172 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) AATGCAATAAGGGCTAGGATC 0.478000 18 40 0 0 0.004990 0 0 NDST4 64579 broad.mit.edu 37 4 115898369 115898369 + Missense_Mutation SNP C C T TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr4:115898369C>T ENST00000264363.2 - 3 1718 c.1040G>A c.(1039-1041)gGa>gAa p.G347E NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 347 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CCCTGAAAATCCAAGGTTGAA 0.323000 4 100 0 0 0.000248 0 0 ACOT12 134526 broad.mit.edu 37 5 80626733 80626733 + Missense_Mutation SNP G G A rs80124231 by1000genomes TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr5:80626733G>A ENST00000307624.3 - 14 1446 c.1418C>T c.(1417-1419)tCg>tTg p.S473L ACOT12_ENST00000508234.1_5'UTR NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 473 START. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) CAAAATGACCGACTTCACTGC 0.398000 15 17 0 0 0.003163 0 0 PIGZ 80235 broad.mit.edu 37 3 196675177 196675177 + Silent SNP C C G TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr3:196675177C>G ENST00000412723.1 - 3 737 c.591G>C c.(589-591)acG>acC p.T197T PIGZ_ENST00000443835.1_3'UTR NM_025163.2 NP_079439.2 Q86VD9 PIGZ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Z 197 GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 14 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) TAGGGCCCCACGTTACATGGG 0.607000 3 63 0 0 0.000248 0 0 GRM1 2911 broad.mit.edu 37 6 146480652 146480652 + Missense_Mutation SNP T T G TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr6:146480652T>G ENST00000392299.2 + 3 1339 c.869T>G c.(868-870)tTc>tGc p.F290C GRM1_ENST00000355289.4_Missense_Mutation_p.F290C|GRM1_ENST00000361719.2_Missense_Mutation_p.F290C|GRM1_ENST00000492807.2_Missense_Mutation_p.F290C|GRM1_ENST00000507907.1_Missense_Mutation_p.F290C|GRM1_ENST00000282753.1_Missense_Mutation_p.F290C Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 290 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GTGGTCTGCTTCTGTGAAGGC 0.552000 3 86 0 0 0.004672 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 5 40 0 0 0.000602 0 0 PCDHA4 0 broad.mit.edu 37 5 140188029 140188029 + Silent SNP A A G TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr5:140188029A>G ENST00000530339.1 + 1 1257 c.1257A>G c.(1255-1257)tcA>tcG p.S419S PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.S419S|PCDHA4_ENST00000512229.2_Silent_p.S419S|PCDHA2_ENST00000526136.1_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAGCGTGTCAGCCTATGAGC 0.617000 4 173 0 0 0.000602 0 0 ATP2C2 9914 broad.mit.edu 37 16 84495624 84495624 + Missense_Mutation SNP A A G TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr16:84495624A>G ENST00000416219.2 + 27 2787 c.2698A>G c.(2698-2700)Agg>Ggg p.R900G RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000262429.4_Missense_Mutation_p.R871G|ATP2C2_ENST00000420010.2_3'UTR O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 871 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 CGGCTTTCTCAGGAACCACAT 0.587000 3 132 0 0 0.000248 0 0 ZNF608 57507 broad.mit.edu 37 5 124079864 124079864 + Silent SNP T T C TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr5:124079864T>C ENST00000306315.5 - 1 1254 c.819A>G c.(817-819)tcA>tcG p.S273S ZNF608_ENST00000504926.1_Intron NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 273 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) CCATGAGCCCTGAATCCGGGG 0.562000 4 212 0 0 0.000248 0 0 SPTA1 6708 broad.mit.edu 37 1 158623172 158623172 + Missense_Mutation SNP G G A TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr1:158623172G>A ENST00000368148.3 - 22 3260 c.3080C>T c.(3079-3081)cCa>cTa p.P1027L SPTA1_ENST00000368147.3_Missense_Mutation_p.P1027L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1027 SH3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) ATAGACAGCTGGGACAATGCC 0.552000 6 76 0 0 0.001168 0 0 CREBBP 1387 broad.mit.edu 37 16 3828107 3828107 + Nonsense_Mutation SNP A A T TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr16:3828107A>T ENST00000262367.5 - 10 2827 c.2018T>A c.(2017-2019)tTa>tAa p.L673* CREBBP_ENST00000382070.3_Nonsense_Mutation_p.L635* NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 673 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TTGTTTATGTAAACGCGACCT 0.433000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 7 152 0 0 0.006214 0 0 CROCCP2 0 broad.mit.edu 37 1 16945409 16945409 + RNA SNP T T A rs13566 TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr1:16945409T>A ENST00000412962.1 - 0 2110 GCGGGATAGCTCGGTGGAGAG 0.612000 6 39 0 0 0.001168 0 0 PCDH11X 27328 broad.mit.edu 37 X 91873707 91873707 + Missense_Mutation SNP A A G TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chrX:91873707A>G ENST00000373094.1 + 7 4657 c.3812A>G c.(3811-3813)cAg>cGg p.Q1271R PCDH11X_ENST00000361655.2_Missense_Mutation_p.Q1253R|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000298274.8_Missense_Mutation_p.Q1234R|PCDH11X_ENST00000406881.1_Missense_Mutation_p.Q1263R|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Q1234R|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Q1261R NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1271 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CATCGTAGTCAGGCCCAATCA 0.547000 4 258 0 0 0.000248 0 0 MYBPC3 4607 broad.mit.edu 37 11 47369997 47369997 + Silent SNP G G A TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr11:47369997G>A ENST00000399249.2 - 6 804 c.750C>T c.(748-750)tcC>tcT p.S250S MYBPC3_ENST00000256993.4_Silent_p.S250S|MYBPC3_ENST00000545968.1_Silent_p.S250S Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 250 Ig-like C2-type 1. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) GATTGAAGTTGGAGCAGTCAA 0.577000 7 18 0 0 0.001984 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 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 4 33 0 0 0.000248 0 0 EMG1 10436 broad.mit.edu 37 12 7080210 7080211 + RNA INS - - G rs141646579 by1000genomes TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr12:7080210_7080211insG ENST00000546220.1 + 0 155_156 U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding CGGAGGCCGTAGTTTATTGTGG 0.569 6 6 --- --- --- --- PRR22 163154 broad.mit.edu 37 19 5783841 5783841 + Frame_Shift_Del DEL C C - TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr19:5783841delC ENST00000419421.2 - 3 521 c.417delG c.(415-417)ggfs p.G139fs NM_001134316.1 NP_001127788.1 Q8IZ63 PRR22_HUMAN proline rich 22 137 Pro-rich. endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1) 5 GAAACTGGGGCCCCCCGGGTG 0.721 2 4 --- --- --- --- APOC1 341 broad.mit.edu 37 19 45419704 45419705 + In_Frame_Ins INS - - TGG TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr19:45419704_45419705insTGG ENST00000592885.1 + 3 367_368 c.316_317insTGG c.(316-318)ggt>TGGggt p.105_106insW APOC1_ENST00000586638.1_Intron|APOC1_ENST00000589781.1_Intron|APOC1_ENST00000588802.1_Intron|APOC1_ENST00000588750.1_Intron|APOC1_ENST00000252491.4_Intron P02654 APOC1_HUMAN apolipoprotein C-I 0 cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity cervix(1)|large_intestine(1)|lung(2) 4 Lung NSC(12;0.0018)|all_lung(12;0.00481) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174) CAACATCCCTCTGGTCACACAG 0.510 4 4 --- --- --- --- ADAM33 80332 broad.mit.edu 37 20 3652627 3652627 + Frame_Shift_Del DEL G G - TCGA-DJ-A2Q8-01A-11D-A18F-08 TCGA-DJ-A2Q8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa837b4d-55a7-4dcf-9fdf-cf9c13644df7 cf88aecb-dc11-4f6f-9072-bc153c7a62d9 g.chr20:3652627delG ENST00000356518.2 - 15 1844 c.1603delC c.(1603-1605)acfs p.H535fs ADAM33_ENST00000350009.2_Frame_Shift_Del_p.H535fs|ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_Frame_Shift_Del_p.H535fs NM_025220.2 NP_079496.1 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 535 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 GGAGCTGGGTGGGAGCCTGAG 0.652 2 4 --- --- --- ---