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 GIGYF2 26058 broad.mit.edu 37 2 233721515 233721515 + Missense_Mutation SNP A A G TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr2:233721515A>G ENST00000373566.3 + 30 4108 c.3911A>G c.(3910-3912)aAt>aGt p.N1304S GIGYF2_ENST00000409451.3_Missense_Mutation_p.N1303S|GIGYF2_ENST00000409196.3_Missense_Mutation_p.N1276S|GIGYF2_ENST00000373563.4_Missense_Mutation_p.N1282S|GIGYF2_ENST00000409480.1_Missense_Mutation_p.N1304S|GIGYF2_ENST00000409547.1_Missense_Mutation_p.N1282S Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 1282 cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) TTTTCAGTCAATGCATCATCG 0.512000 13 78 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141766505 141766505 + Missense_Mutation SNP C C T TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr7:141766505C>T ENST00000475668.2 + 41 4957 c.4903C>T c.(4903-4905)Cgg>Tgg p.R1635W MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1635 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CACTGTTGTGCGGCCTCTGCT 0.483000 4 144 0 0 1 0 0 VCP 7415 broad.mit.edu 37 9 35057381 35057381 + Silent SNP G G A TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr9:35057381G>A ENST00000358901.6 - 16 3202 c.2307C>T c.(2305-2307)ggC>ggT p.G769G NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 769 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) ACCTGAAGCTGCCAAAGCCCC 0.507000 5 384 0 0 1 0 0 EIF3K 27335 broad.mit.edu 37 19 39127527 39127527 + Splice_Site SNP A A C TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr19:39127527A>C ENST00000248342.4 + 8 797 c.e8-1 EIF3K_ENST00000593149.1_Splice_Site|EIF3K_ENST00000588934.1_Splice_Site|EIF3K_ENST00000592558.1_Splice_Site NM_013234.2 NP_037366.1 Q9UBQ5 EIF3K_HUMAN eukaryotic translation initiation factor 3, subunit K regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex|nucleus protein binding|ribosome binding|translation initiation factor activity EIF3K/CYP39A1(2) central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCTTCCCCACAGGTGTGTCCA 0.532000 6 108 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124392750 124392750 + Missense_Mutation SNP C C A TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr10:124392750C>A ENST00000368909.3 + 49 6160 c.6054C>A c.(6052-6054)gaC>gaA p.D2018E DMBT1_ENST00000330163.4_Missense_Mutation_p.D1390E|DMBT1_ENST00000338354.3_Missense_Mutation_p.D2018E|DMBT1_ENST00000368955.3_Missense_Mutation_p.D2008E|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1390E|DMBT1_ENST00000344338.3_Missense_Mutation_p.D2008E|DMBT1_ENST00000359586.6_Missense_Mutation_p.D738E NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2018 CUB 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CATCAGGGGACTTTTCCAGCC 0.507000 39 54 3.61848e-18 3.71899e-18 1 1 0 CSTF1 1477 broad.mit.edu 37 20 54972305 54972305 + Missense_Mutation SNP G G T TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr20:54972305G>T ENST00000217109.4 + 3 564 c.212G>T c.(211-213)cGt>cTt p.R71L CSTF1_ENST00000493039.1_3'UTR NM_001033521.1|NM_001324.2 NP_001028693.1|NP_001315.1 Q05048 CSTF1_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa 71 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 15 Colorectal(105;0.202) GCAATTGGTCGTTCAGATACT 0.428000 12 177 1.08611e-07 1.08611e-07 1 1 0 PADI3 51702 broad.mit.edu 37 1 17575683 17575683 + Silent SNP G G A TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr1:17575683G>A ENST00000375460.3 + 1 91 c.51G>A c.(49-51)gcG>gcA p.A17A NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 17 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CCACCAGCGCGGTGTGTGTGG 0.607000 3 45 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 5 130 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 5 115 0 0 1 0 0 C10orf90 118611 broad.mit.edu 37 10 128118419 128118419 + Splice_Site SNP T T C TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr10:128118419T>C ENST00000284694.7 - 7 2018 c.1897_splice c.e7-1 p.D633_splice C10orf90_ENST00000454341.1_Splice_Site_p.D536_splice|C10orf90_ENST00000544758.1_Splice_Site_p.D730_splice|C10orf90_ENST00000356858.3_Splice_Site_p.D586_splice|C10orf90_ENST00000480379.1_Splice_Site_p.D37_splice NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 633 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) GAACAAGTTATCTGGAAAAAA 0.358000 10 71 0 0 1 0 0 CDKL5 6792 broad.mit.edu 37 X 18616728 18616728 + Silent SNP T T C TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chrX:18616728T>C ENST00000379989.3 + 12 1257 c.972T>C c.(970-972)tcT>tcC p.S324S CDKL5_ENST00000379996.3_Silent_p.S324S NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 324 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) GCACATTGTCTAATAGGTAAA 0.398000 10 84 0 0 1 0 0 CCDC144CP 348254 broad.mit.edu 37 17 20224797 20224797 + RNA SNP C C T TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr17:20224797C>T ENST00000580225.1 + 0 105 CCDC144CP_ENST00000340196.4_RNA GGTGGAAAAACAGCGTCGGCA 0.637000 5 129 0 0 1 0 0 PFKM 5213 broad.mit.edu 37 12 48529135 48529135 + Missense_Mutation SNP G G A TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr12:48529135G>A ENST00000340802.6 + 12 1342 c.1118G>A c.(1117-1119)gGt>gAt p.G373D PFKM_ENST00000551804.1_Intron|PFKM_ENST00000312352.7_Missense_Mutation_p.G302D|PFKM_ENST00000547587.1_Missense_Mutation_p.G302D|PFKM_ENST00000395233.2_Intron|PFKM_ENST00000359794.5_Missense_Mutation_p.G302D NM_001166686.1 NP_001160158.1 P08237 K6PF_HUMAN phosphofructokinase, muscle 302 fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 GTGCAGAGGGGTGGGACGCCA 0.572000 10 50 0 0 1 0 0 PTBP1 5725 broad.mit.edu 37 19 804908 804908 + Missense_Mutation SNP C C T TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr19:804908C>T ENST00000356948.6 + 7 1109 c.686C>T c.(685-687)gCg>gTg p.A229V PTBP1_ENST00000349038.4_Missense_Mutation_p.A229V|PTBP1_ENST00000394601.4_Missense_Mutation_p.A229V|PTBP1_ENST00000350092.4_Intron NM_002819.4 NP_002810.1 P26599 PTBP1_HUMAN polypyrimidine tract binding protein 1 229 RRM 2. negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4) 19 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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) CTGCAGTATGCGGACCCCGTG 0.662000 4 162 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|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, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) 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) tgctgctactgctgctgctgc 0.527000 T MLL ALL 4 70 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57730597 57730597 + Missense_Mutation SNP G G A TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr15:57730597G>A ENST00000281282.5 + 2 478 c.400G>A c.(400-402)Gac>Aac p.D134N NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 134 Head. myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) AGATCGCAAAGACGGGTCTGT 0.473000 4 63 0 0 1 0 0 TOX 9760 broad.mit.edu 37 8 59720342 59720342 + Splice_Site SNP C C T TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr8:59720342C>T ENST00000361421.1 - 9 1765 c.1544_splice c.e9-1 p.G515_splice NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 515 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) TCTGCATGCCCCTGTAGGAAG 0.448000 OREG0018787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 39 0 0 1 0 0 ITIH3 3699 broad.mit.edu 37 3 52840340 52840340 + Silent SNP T T A TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr3:52840340T>A ENST00000449956.2 + 18 1980 c.1974T>A c.(1972-1974)atT>atA p.I658I ITIH3_ENST00000416872.2_Intron NM_002217.3 NP_002208.3 Q06033 ITIH3_HUMAN inter-alpha-trypsin inhibitor heavy chain 3 658 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) TCATCCAAATTCCGGAGAAAG 0.572000 4 44 0 0 1 0 0 MORC3 23515 broad.mit.edu 37 21 37716913 37716913 + Missense_Mutation SNP C C G TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr21:37716913C>G ENST00000400485.1 + 7 869 c.793C>G c.(793-795)Cag>Gag p.Q265E MORC3_ENST00000487909.1_3'UTR NM_015358.2 NP_056173.1 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 265 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GCCAAGAATGCAGATCATCCT 0.373000 7 60 0 0 1 0 0 TSGA13 114960 broad.mit.edu 37 7 130356501 130356501 + Splice_Site SNP C C T TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr7:130356501C>T ENST00000456951.1 - 8 1509 c.658_splice c.e8+1 p.A220_splice TSGA13_ENST00000356588.3_Splice_Site_p.A220_splice Q96PP4 TSG13_HUMAN testis specific, 13 220 endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(18;0.0435) AGGAGCTTACCATCTTTCCTC 0.448000 8 222 0 0 1 0 0 GGT7 2686 broad.mit.edu 37 20 33449307 33449307 + Missense_Mutation SNP G G A TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr20:33449307G>A ENST00000336431.5 - 4 660 c.616C>T c.(616-618)Cgg>Tgg p.R206W NM_178026.2 NP_821158.2 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 206 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 GCGGACTCCCGGAAATCAATT 0.557000 7 40 0 0 1 0 0 RPS6KA4 8986 broad.mit.edu 37 11 64136019 64136019 + Missense_Mutation SNP G G A TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr11:64136019G>A ENST00000528057.1 + 11 1347 c.1259G>A c.(1258-1260)cGc>cAc p.R420H RPS6KA4_ENST00000294261.4_Intron|RPS6KA4_ENST00000334205.4_Missense_Mutation_p.R427H NM_001006944.1 NP_001006945.1 O75676 KS6A4_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 4 427 Protein kinase 2. axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1) 13 GTGTGTCGCCGCTGCCGCCAG 0.701000 5 1 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27023888 27023888 + Missense_Mutation SNP C C T TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr17:27023888C>T ENST00000314616.6 + 30 4280 c.3997C>T c.(3997-3999)Cca>Tca p.P1333S SUPT6H_ENST00000347486.4_Missense_Mutation_p.P1333S NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1333 SH2. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) GATCGCACACCCATCCTTCCA 0.498000 16 32 0 0 1 0 0 HDAC2 3066 broad.mit.edu 37 6 114270226 114270226 + Missense_Mutation SNP T T C TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr6:114270226T>C ENST00000519065.1 - 8 1134 c.758A>G c.(757-759)tAt>tGt p.Y253C HDAC2_ENST00000519108.1_Missense_Mutation_p.Y223C|HDAC2_ENST00000398283.2_Missense_Mutation_p.Y347C|HDAC2_ENST00000368632.2_Missense_Mutation_p.Y223C Q92769 HDAC2_HUMAN histone deacetylase 2 253 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) ACTAGGTTGATACATCTCCAT 0.363000 6 102 0 0 1 0 0 DNASE1 1773 broad.mit.edu 37 16 3706108 3706108 + Missense_Mutation SNP C C G TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr16:3706108C>G ENST00000246949.5 + 4 3451 c.242C>G c.(241-243)gCa>gGa p.A81G DNASE1_ENST00000414110.2_Missense_Mutation_p.H2D|DNASE1_ENST00000407479.1_Missense_Mutation_p.A81G NM_005223.3 NP_005214.2 P24855 DNAS1_HUMAN deoxyribonuclease I 81 apoptosis|DNA catabolic process extracellular region|nuclear envelope actin binding|deoxyribonuclease I activity lung(1) 1 Ovarian(90;0.0261) Kidney(780;0.0556) Dornase Alfa(DB00003) TCCAGGGATGCACCAGACACC 0.597000 7 54 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211648 78211648 + RNA SNP A A G TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr15:78211648A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CGCCAGGGATAGGGGCTCAGC 0.522000 3 59 0 0 1 0 0 LSS 4047 broad.mit.edu 37 21 47648646 47648646 + Translation_Start_Site SNP G G A TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr21:47648646G>A ENST00000457828.2 - 0 92 LSS_ENST00000522411.1_Splice_Site_p.T5_splice|LSS_ENST00000356396.4_Splice_Site_p.T5_splice|LSS_ENST00000397728.3_Splice_Site_p.T5_splice|LSS_ENST00000464357.1_5'UTR NM_001145437.1 NP_001138909.1 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) GGGGACTCACGTGCCCTCCGT 0.746000 4 12 0 0 1 0 0 LGALS14 56891 broad.mit.edu 37 19 40199856 40199856 + Missense_Mutation SNP G G C rs111361406 byFrequency TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr19:40199856G>C ENST00000392052.3 + 4 546 c.323G>C c.(322-324)cGc>cCc p.R108P LGALS14_ENST00000360675.3_Missense_Mutation_p.R137P NM_020129.2 NP_064514.1 Q8TCE9 PPL13_HUMAN lectin, galactoside-binding, soluble, 14 108 Galectin. nucleus sugar binding p.R108L(1)|p.R137L(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2) 14 all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06) Myeloproliferative disorder(2;0.0741) Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22) AATGGCCAACGCATTTACAAC 0.468000 9 101 0 0 1 0 0 ITGAV 3685 broad.mit.edu 37 2 187455082 187455082 + Missense_Mutation SNP G G A TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr2:187455082G>A ENST00000261023.3 + 1 291 c.17G>A c.(16-18)cGg>cAg p.R6Q ITGAV_ENST00000374907.3_Missense_Mutation_p.R6Q NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 6 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) TTTCCGCCGCGGCGACGGCTG 0.741000 6 40 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 45 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 56 0 0 1 0 0 GAD1 2571 broad.mit.edu 37 2 171675133 171675133 + Missense_Mutation SNP C C T TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr2:171675133C>T ENST00000358196.3 + 2 582 c.32C>T c.(31-33)aCc>aTc p.T11I GAD1_ENST00000375272.1_Missense_Mutation_p.T11I|GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Missense_Mutation_p.T11I NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 11 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TCGTCCGCAACCTCCTCGAAC 0.607000 19 81 0 0 1 0 0 LINC00691 152024 broad.mit.edu 37 3 24138347 24138349 + RNA DEL ATC ATC - TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr3:24138347_24138349delATC ENST00000436123.1 - 0 2374_2376 catcaaaattatcatcatcatca 0.345 2 4 --- --- --- --- ANKHD1 54882 broad.mit.edu 37 5 139907954 139907960 + Frame_Shift_Del DEL CTTTGGG CTTTGGG - TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr5:139907954_139907960delCTTTGGG ENST00000297183.6 + 29 5547_5553 c.5423_5429delCTTTGGG c.(5422-5430)ctfs p.PLG1808fs ANKHD1_ENST00000544120.1_Frame_Shift_Del_p.PLG191fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.PLG1808fs|ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.PLG1808fs 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) AATGCATTTCCTTTGGGTGCTCCAACT 0.406 8 141 --- --- --- --- CIZ1 25792 broad.mit.edu 37 9 130953109 130953111 + In_Frame_Del DEL GCT GCT - TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr9:130953109_130953111delGCT ENST00000538431.1 - 2 273_275 c.26_28delAGC c.(25-30)ctc>c p.QL9del CIZ1_ENST00000393608.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000372948.3_In_Frame_Del_p.QL9del|CIZ1_ENST00000372954.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000372938.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000357558.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000325721.8_In_Frame_Del_p.QL9del|CIZ1_ENST00000277465.4_In_Frame_Del_p.QL9del|CIZ1_ENST00000541172.1_5'UTR|CIZ1_ENST00000476727.2_5'UTR NM_001257975.1 NP_001244904.1 Q9ULV3 CIZ1_HUMAN CDKN1A interacting zinc finger protein 1 9 Gln-rich. Missing (in Ref. 7; AAF23231). nucleus nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2) 35 tgttgctggagctgctgctgctg 0.611 3 6 --- --- --- --- DIAPH3 81624 broad.mit.edu 37 13 60582733 60582734 + Frame_Shift_Ins INS - - T TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr13:60582733_60582734insT ENST00000400324.4 - 9 1178_1179 c.958_959insA c.(958-960)tgafs p.*320fs DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 320 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AAATCTGTCAATTTTTTTTTCT 0.322 10 176 --- --- --- --- LINC00639 283547 broad.mit.edu 37 14 39304594 39304594 + RNA DEL T T - TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr14:39304594delT ENST00000553932.1 - 0 3825 CAGAGAATGATGGAGAAGCCT 0.567 2 4 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25442755 25442755 + RNA DEL G G - TCGA-WB-A81E-01A-11D-A35I-08 TCGA-WB-A81E-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cbc6844-3fc6-4bdd-90ce-6f84c44599bc fb0abb31-3189-40f1-8ccb-24f94ef1c578 g.chr15:25442755delG ENST00000424208.1 + 0 1636 SNHG14_ENST00000424333.1_RNA|SNORD115-15_ENST00000364809.1_RNA NR_003305.1 ATGTTCTGAAGAGAGGTGATG 0.498 27 485 --- --- --- ---