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 KRTAP4-6 81871 broad.mit.edu 37 17 39296152 39296152 + Silent SNP A A G TCGA-FE-A3PA-01A-12D-A21Z-08 TCGA-FE-A3PA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150d0a9b-2e2e-4fd3-9516-c383f3483fa4 600db5b7-202a-483f-af4d-6c56be23c265 g.chr17:39296152A>G ENST00000345847.4 - 1 587 c.588T>C c.(586-588)cgT>cgC p.R196R NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 192 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 AGCACAAGGGACGGGGGCAGG 0.597000 4 28 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-FE-A3PA-01A-12D-A21Z-08 TCGA-FE-A3PA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150d0a9b-2e2e-4fd3-9516-c383f3483fa4 600db5b7-202a-483f-af4d-6c56be23c265 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 7 70 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-FE-A3PA-01A-12D-A21Z-08 TCGA-FE-A3PA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150d0a9b-2e2e-4fd3-9516-c383f3483fa4 600db5b7-202a-483f-af4d-6c56be23c265 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 8 96 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-FE-A3PA-01A-12D-A21Z-08 TCGA-FE-A3PA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150d0a9b-2e2e-4fd3-9516-c383f3483fa4 600db5b7-202a-483f-af4d-6c56be23c265 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 8 100 0 0 1 0 0 PCDHB11 0 broad.mit.edu 37 5 140580279 140580279 + Missense_Mutation SNP C C T TCGA-FE-A3PA-01A-12D-A21Z-08 TCGA-FE-A3PA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150d0a9b-2e2e-4fd3-9516-c383f3483fa4 600db5b7-202a-483f-af4d-6c56be23c265 g.chr5:140580279C>T ENST00000354757.3 + 1 932 c.932C>T c.(931-933)aCg>aTg p.T311M PCDHB11_ENST00000536699.1_5'UTR NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 311 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GATTTTGAAACGATTGAGTCA 0.363000 75 118 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53945909 53945909 + RNA SNP T T C rs28727441 by1000genomes TCGA-FE-A3PA-01A-12D-A21Z-08 TCGA-FE-A3PA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150d0a9b-2e2e-4fd3-9516-c383f3483fa4 600db5b7-202a-483f-af4d-6c56be23c265 g.chr19:53945909T>C ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ACCCTGACTCTGCCTGAGGCC 0.562000 13 148 0 0 1 0 0 AC093838.4 0 broad.mit.edu 37 2 132277686 132277686 + RNA SNP C C T rs9287520 by1000genomes TCGA-FE-A3PA-01A-12D-A21Z-08 TCGA-FE-A3PA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150d0a9b-2e2e-4fd3-9516-c383f3483fa4 600db5b7-202a-483f-af4d-6c56be23c265 g.chr2:132277686C>T ENST00000438378.2 + 0 2325 NR_026922.1 GGACAGATGGCGGCTCTGTGT 0.647000 4 42 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-FE-A3PA-01A-12D-A21Z-08 TCGA-FE-A3PA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150d0a9b-2e2e-4fd3-9516-c383f3483fa4 600db5b7-202a-483f-af4d-6c56be23c265 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 11 113 0 0 1 0 0 CUL2 8453 broad.mit.edu 37 10 35320510 35320510 + Missense_Mutation SNP G G A TCGA-FE-A3PA-01A-12D-A21Z-08 TCGA-FE-A3PA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150d0a9b-2e2e-4fd3-9516-c383f3483fa4 600db5b7-202a-483f-af4d-6c56be23c265 g.chr10:35320510G>A ENST00000374748.1 - 14 1521 c.1208C>T c.(1207-1209)gCg>gTg p.A403V CUL2_ENST00000537177.1_Missense_Mutation_p.A422V|CUL2_ENST00000374751.3_Missense_Mutation_p.A403V|CUL2_ENST00000374742.1_Missense_Mutation_p.A403V|CUL2_ENST00000374749.3_Missense_Mutation_p.A403V|CUL2_ENST00000374746.1_Missense_Mutation_p.A403V|CUL2_ENST00000602371.1_Missense_Mutation_p.A346V Q13617 CUL2_HUMAN cullin 2 403 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2) 31 CATCCCTTTCGCTGACTTCTT 0.398000 58 87 0 0 1 0 0 IGSF3 3321 broad.mit.edu 37 1 117142736 117142736 + Missense_Mutation SNP A A G rs138851517 TCGA-FE-A3PA-01A-12D-A21Z-08 TCGA-FE-A3PA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150d0a9b-2e2e-4fd3-9516-c383f3483fa4 600db5b7-202a-483f-af4d-6c56be23c265 g.chr1:117142736A>G ENST00000369486.3 - 7 2621 c.1856T>C c.(1855-1857)aTc>aCc p.I619T IGSF3_ENST00000369483.1_Missense_Mutation_p.I639T|IGSF3_ENST00000318837.6_Missense_Mutation_p.I639T NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 619 Ig-like C2-type 5. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) AGCCTTCTCGATGGCAGTTCG 0.627000 4 75 0 0 1 0 0 MEN1 0 broad.mit.edu 37 11 64572151 64572151 + Silent SNP C C T TCGA-FE-A3PA-01A-12D-A21Z-08 TCGA-FE-A3PA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150d0a9b-2e2e-4fd3-9516-c383f3483fa4 600db5b7-202a-483f-af4d-6c56be23c265 g.chr11:64572151C>T ENST00000337652.1 - 10 2006 c.1503G>A c.(1501-1503)aaG>aaA p.K501K MEN1_ENST00000443283.1_Silent_p.K501K|MEN1_ENST00000377313.1_Silent_p.K501K|MEN1_ENST00000377326.3_Silent_p.K496K|MEN1_ENST00000315422.4_Silent_p.K496K|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377321.1_Silent_p.K461K|MEN1_ENST00000394374.2_Silent_p.K501K|MEN1_ENST00000377316.2_Silent_p.K441K|MEN1_ENST00000312049.6_Silent_p.K496K|MEN1_ENST00000394376.1_Silent_p.K501K NM_130803.2 NP_570715.1 O00255 MEN1_HUMAN multiple endocrine neoplasia I 501 DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 GTGCTGGCTTCTTGGGCGGCG 0.756000 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated 4 39 0 0 1 0 0 TNFRSF1A 7132 broad.mit.edu 37 12 6438738 6438738 + Missense_Mutation SNP G G A TCGA-FE-A3PA-01A-12D-A21Z-08 TCGA-FE-A3PA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150d0a9b-2e2e-4fd3-9516-c383f3483fa4 600db5b7-202a-483f-af4d-6c56be23c265 g.chr12:6438738G>A ENST00000162749.2 - 10 1407 c.1108C>T c.(1108-1110)Cgc>Tgc p.R370C TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.R327C NM_001065.3 NP_001056.1 P19438 TNR1A_HUMAN tumor necrosis factor receptor superfamily, member 1A 370 Death. apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process extracellular region|integral to plasma membrane|membrane raft tumor necrosis factor receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 19 TCCTTCCAGCGCAACGGGGGC 0.706000 3 37 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664743 22664743 + RNA SNP G G A TCGA-FE-A3PA-01A-12D-A21Z-08 TCGA-FE-A3PA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150d0a9b-2e2e-4fd3-9516-c383f3483fa4 600db5b7-202a-483f-af4d-6c56be23c265 g.chr22:22664743G>A ENST00000426066.1 + 0 924 NR_027293.1 CAGACTAAAGGCAAACAAGGA 0.498000 6 114 0 0 1 0 0 AC018890.6 0 broad.mit.edu 37 2 175585095 175585095 + RNA DEL T T - rs112662182 TCGA-FE-A3PA-01A-12D-A21Z-08 TCGA-FE-A3PA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150d0a9b-2e2e-4fd3-9516-c383f3483fa4 600db5b7-202a-483f-af4d-6c56be23c265 g.chr2:175585095delT ENST00000442996.1 + 0 217 AAAAAAAAAATTTCTCTTCTT 0.373 4 7 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140810639 140810641 + In_Frame_Del DEL GCT GCT - TCGA-FE-A3PA-01A-12D-A21Z-08 TCGA-FE-A3PA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150d0a9b-2e2e-4fd3-9516-c383f3483fa4 600db5b7-202a-483f-af4d-6c56be23c265 g.chr4:140810639_140810641delGCT ENST00000509479.2 - 2 2805_2807 c.1949_1951delAGC c.(1948-1953)ccg>c p.QP650del MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del|MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 646 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) GGAGGTGGCGgctgctgctgctg 0.586 9 168 --- --- --- --- PMS2P3 0 broad.mit.edu 37 7 75142142 75142142 + RNA DEL A A - rs35519730 TCGA-FE-A3PA-01A-12D-A21Z-08 TCGA-FE-A3PA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150d0a9b-2e2e-4fd3-9516-c383f3483fa4 600db5b7-202a-483f-af4d-6c56be23c265 g.chr7:75142142delA ENST00000418756.1 - 0 991 NR_028059.1 lung(1) 1 tctcaaaaagaaaaaaaaaaa 0.418 6 10 --- --- --- --- LMTK2 22853 broad.mit.edu 37 7 97736519 97736521 + In_Frame_Del DEL GCT GCT - TCGA-FE-A3PA-01A-12D-A21Z-08 TCGA-FE-A3PA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150d0a9b-2e2e-4fd3-9516-c383f3483fa4 600db5b7-202a-483f-af4d-6c56be23c265 g.chr7:97736519_97736521delGCT ENST00000297293.5 + 1 323_325 c.30_32delGCT c.(28-33)agg>ag p.RL10del NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 10 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) TGCGGCGGAGGCTGCTGCTGCTG 0.764 3 5 --- --- --- --- PGM5P2 0 broad.mit.edu 37 9 69127140 69127140 + RNA DEL A A - TCGA-FE-A3PA-01A-12D-A21Z-08 TCGA-FE-A3PA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150d0a9b-2e2e-4fd3-9516-c383f3483fa4 600db5b7-202a-483f-af4d-6c56be23c265 g.chr9:69127140delA ENST00000591037.1 - 0 430 NR_002836.2 TAAACCATCCAAAAAAAAAAA 0.403 8 87 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20138373 20138374 + RNA INS - - AAG rs150133272 TCGA-FE-A3PA-01A-12D-A21Z-08 TCGA-FE-A3PA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150d0a9b-2e2e-4fd3-9516-c383f3483fa4 600db5b7-202a-483f-af4d-6c56be23c265 g.chr14:20138373_20138374insAAG ENST00000548261.1 + 0 391 GAAACAaaagaaagaaagaaag 0.396 7 20 --- --- --- --- HERC2 8924 broad.mit.edu 37 15 28518115 28518115 + Frame_Shift_Del DEL C C - TCGA-FE-A3PA-01A-12D-A21Z-08 TCGA-FE-A3PA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150d0a9b-2e2e-4fd3-9516-c383f3483fa4 600db5b7-202a-483f-af4d-6c56be23c265 g.chr15:28518115delC ENST00000261609.7 - 8 944 c.836delG c.(835-837)gafs p.G279fs NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 279 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 p.G279V(1)|p.G279fs*25(1) 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) GGGGATGCTTCCTGGCCCTTT 0.592 7 156 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38119882 38119884 + In_Frame_Del DEL CCT CCT - TCGA-FE-A3PA-01A-12D-A21Z-08 TCGA-FE-A3PA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150d0a9b-2e2e-4fd3-9516-c383f3483fa4 600db5b7-202a-483f-af4d-6c56be23c265 g.chr22:38119882_38119884delCCT ENST00000406386.3 + 7 1574_1576 c.1319_1321delCCT c.(1318-1323)gcc>g p.AS440del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 440 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAG 0.601 9 250 --- --- --- --- DGKK 139189 broad.mit.edu 37 X 50165595 50165596 + RNA INS - - AC rs59226442 TCGA-FE-A3PA-01A-12D-A21Z-08 TCGA-FE-A3PA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150d0a9b-2e2e-4fd3-9516-c383f3483fa4 600db5b7-202a-483f-af4d-6c56be23c265 g.chrX:50165595_50165596insAC ENST00000376025.2 - 0 816 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) TTAAAAGGTAAacacacacaca 0.411 6 12 --- --- --- ---