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 CCDC62 84660 broad.mit.edu 37 12 123276650 123276650 + Missense_Mutation SNP G G T TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr12:123276650G>T ENST00000253079.6 + 6 1098 c.754G>T c.(754-756)Gat>Tat p.D252Y CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000392441.4_Missense_Mutation_p.D252Y|CCDC62_ENST00000537566.1_Intron NM_201435.4 NP_958843.2 Q6P9F0 CCD62_HUMAN coiled-coil domain containing 62 252 cytoplasm|nucleus p.D252N(2) breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) TTGCCTGCACGATGAATTGCT 0.393000 17 85 7.05477e-17 7.78457e-17 0.520397 1 0 KCNAB3 9196 broad.mit.edu 37 17 7829388 7829388 + Silent SNP G G A TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr17:7829388G>A ENST00000303790.2 - 5 437 c.438C>T c.(436-438)agC>agT p.S146S RP11-1099M24.7_ENST00000573621.1_3'UTR NM_004732.3 NP_004723.2 O43448 KCAB3_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 3 146 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 8 Prostate(122;0.157) TCCAACCTTTGCTCTTGAGGA 0.478000 11 118 0 0 0.387290 0 0 LRSAM1 90678 broad.mit.edu 37 9 130224635 130224635 + Missense_Mutation SNP C C T TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr9:130224635C>T ENST00000323301.4 + 8 1115 c.511C>T c.(511-513)Cac>Tac p.H171Y LRSAM1_ENST00000373324.4_Missense_Mutation_p.H171Y|LRSAM1_ENST00000300417.6_Missense_Mutation_p.H171Y|LRSAM1_ENST00000373322.1_Missense_Mutation_p.H171Y NM_138361.5 NP_612370.3 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif containing 1 171 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2) 16 GATGCTGGCTCACGTTCGAAC 0.577000 14 52 0 0 0.457914 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 6 102 0 0 0.248553 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296599 39296599 + Silent SNP T T C TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr17:39296599T>C ENST00000345847.4 - 1 140 c.141A>G c.(139-141)agA>agG p.R47R NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 47 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 AGCACTGGGGTCTGCAGCAGC 0.682000 5 128 0 0 0.411799 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664115 22664115 + RNA SNP A A T TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr22:22664115A>T ENST00000426066.1 + 0 638 NR_027293.1 TGTTTAATTCAGCCTTGGAAG 0.413000 6 74 0 0 0.435327 0 0 TSHR 7253 broad.mit.edu 37 14 81609809 81609809 + Silent SNP C C A TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr14:81609809C>A ENST00000541158.2 + 11 1729 c.1407C>A c.(1405-1407)ctC>ctA p.L469L TSHR_ENST00000298171.2_Silent_p.L469L|RP11-114N19.3_ENST00000557775.1_RNA P16473 TSHR_HUMAN thyroid stimulating hormone receptor 469 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) ACCTGCTCCTCATCGCCTCTG 0.537000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 42 69 1.38162e-09 1.47373e-09 0.840704 1 0 QSER1 79832 broad.mit.edu 37 11 32953853 32953853 + Missense_Mutation SNP T T G TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr11:32953853T>G ENST00000399302.2 + 4 997 c.662T>G c.(661-663)gTa>gGa p.V221G QSER1_ENST00000527788.1_Missense_Mutation_p.V221G NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 221 Ser-rich. breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) AATTCAAGTGTAGTTAATTTT 0.438000 9 37 0 0 0.307466 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296600 39296600 + Missense_Mutation SNP C C T TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr17:39296600C>T ENST00000345847.4 - 1 139 c.140G>A c.(139-141)aGa>aAa p.R47K NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 47 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament p.R47K(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GCACTGGGGTCTGCAGCAGCT 0.682000 5 128 0 0 0.411799 0 0 SDHAP1 0 broad.mit.edu 37 3 195711423 195711423 + RNA SNP A A G TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr3:195711423A>G ENST00000427841.1 - 0 524 NR_003264.2 CTCTTGTACTAGAAACAGACC 0.552000 3 37 0 0 0.150653 0 0 BTAF1 9044 broad.mit.edu 37 10 93748982 93748982 + Silent SNP T T C TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr10:93748982T>C ENST00000265990.6 + 20 2807 c.2499T>C c.(2497-2499)agT>agC p.S833S BTAF1_ENST00000471217.1_3'UTR NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 833 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) AGTTAGATAGTAAACGACAGC 0.378000 23 44 0 0 0.639603 0 0 GPR112 139378 broad.mit.edu 37 X 135427194 135427194 + Silent SNP C C T TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chrX:135427194C>T ENST00000394143.1 + 6 1620 c.1329C>T c.(1327-1329)gcC>gcT p.A443A GPR112_ENST00000412101.1_Silent_p.A238A|GPR112_ENST00000394141.1_Silent_p.A238A|GPR112_ENST00000370652.1_Silent_p.A443A|GPR112_ENST00000287534.4_Silent_p.A380A NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 443 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTACAGCTGCCGGAACTGTAC 0.478000 23 66 0 0 0.608945 0 0 C5orf42 65250 broad.mit.edu 37 5 37176053 37176053 + Missense_Mutation SNP G G A TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr5:37176053G>A ENST00000274258.7 - 31 6163 c.2576C>T c.(2575-2577)aCt>aTt p.T859I C5orf42_ENST00000508244.1_Missense_Mutation_p.T1979I|C5orf42_ENST00000425232.2_Missense_Mutation_p.T1979I E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1979 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TGATTGAGGAGTGGTATGCCC 0.333000 8 159 0 0 0.278610 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19560130 19560130 + Missense_Mutation SNP G G A TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chrX:19560130G>A ENST00000397821.3 - 16 2095 c.1805C>T c.(1804-1806)gCg>gTg p.A602V SH3KBP1_ENST00000541422.1_Missense_Mutation_p.A341V|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.A565V|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.A364V NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 602 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 GCTGCTGGCCGCAGGCTCCAT 0.627000 43 75 0 0 0.859065 0 0 SYT5 6861 broad.mit.edu 37 19 55687427 55687427 + Silent SNP C C T rs11668445 byFrequency TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr19:55687427C>T ENST00000354308.3 - 4 687 c.318G>A c.(316-318)aaG>aaA p.K106K CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Silent_p.K103K|SYT5_ENST00000537500.1_Silent_p.K106K NM_003180.2 NP_003171.2 O00445 SYT5_HUMAN synaptotagmin V 106 energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) CTAGCTCATGCTTGTCTGCCA 0.602000 6 126 0 0 0.248553 0 0 EDAR 10913 broad.mit.edu 37 2 109527373 109527373 + Missense_Mutation SNP A A G rs260630 by1000genomes TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr2:109527373A>G ENST00000409271.1 - 8 1128 c.685T>C c.(685-687)Ttc>Ctc p.F229L EDAR_ENST00000258443.2_Intron|EDAR_ENST00000376651.1_Missense_Mutation_p.F229L Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 217 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 GAGTCCAGGAAGCAGGGCACC 0.627000 3 30 0 0 0.150653 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211648 78211648 + RNA SNP A A G TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr15:78211648A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CGCCAGGGATAGGGGCTCAGC 0.522000 4 76 0 0 0.184627 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f 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 6 56 0 0 0.248553 0 0 GOLGB1 2804 broad.mit.edu 37 3 121415620 121415620 + Silent SNP G G A TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr3:121415620G>A ENST00000393667.3 - 13 3860 c.3750C>T c.(3748-3750)gaC>gaT p.D1250D GOLGB1_ENST00000340645.5_Silent_p.D1245D NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 1245 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding p.D1245D(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) GGAGTTTTCCGTCTATGGATT 0.438000 21 72 0 0 0.592651 0 0 HNRNPC 3183 broad.mit.edu 37 14 21679622 21679623 + Frame_Shift_Del DEL AG AG - TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr14:21679622_21679623delAG ENST00000430246.2 - 7 3691_3692 c.740_741delCT c.(739-741)tfs p.S247fs HNRNPC_ENST00000557201.1_Frame_Shift_Del_p.S260fs|HNRNPC_ENST00000449098.1_Frame_Shift_Del_p.S247fs|HNRNPC_ENST00000556897.1_Frame_Shift_Del_p.S247fs|HNRNPC_ENST00000556628.1_Frame_Shift_Del_p.S180fs|HNRNPC_ENST00000556513.1_Intron|HNRNPC_ENST00000556142.1_Intron|HNRNPC_ENST00000555883.1_Frame_Shift_Del_p.S204fs|HNRNPC_ENST00000555914.1_Frame_Shift_Del_p.S246fs|HNRNPC_ENST00000555309.1_Frame_Shift_Del_p.S259fs|HNRNPC_ENST00000553300.1_Frame_Shift_Del_p.S247fs|HNRNPC_ENST00000554455.1_Frame_Shift_Del_p.S260fs|HNRNPC_ENST00000320084.7_Frame_Shift_Del_p.S260fs|HNRNPC_ENST00000554969.1_Frame_Shift_Del_p.S247fs|HNRNPC_ENST00000420743.2_Frame_Shift_Del_p.S260fs|HNRNPC_ENST00000553753.1_Frame_Shift_Del_p.S247fs|HNRNPC_ENST00000336053.6_Frame_Shift_Del_p.S247fs P07910 HNRPC_HUMAN heterogeneous nuclear ribonucleoprotein C (C1/C2) 260 Asp/Glu-rich (acidic). catalytic step 2 spliceosome|nucleoplasm identical protein binding|nucleotide binding|RNA binding breast(1)|liver(1)|lung(6)|skin(1) 9 all_cancers(95;0.00176) Epithelial(56;1.08e-06)|all cancers(55;8.95e-06) GBM - Glioblastoma multiforme(265;0.00783) CCTCCTCAGCAGAGTCATCTGC 0.510 25 69 --- --- --- --- PPM1E 22843 broad.mit.edu 37 17 56833644 56833646 + In_Frame_Del DEL GAG GAG - TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr17:56833644_56833646delGAG ENST00000308249.2 + 1 415_417 c.286_288delGAG c.(286-288)del p.E100del NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 100 Glu-rich.|Pro-rich. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) ggttgagggtgaggaggaggagg 0.783 2 4 --- --- --- ---