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 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-DJ-A2PR-01A-11D-A19J-08 TCGA-DJ-A2PR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx be525078-277f-4f63-9e91-c9db569d85bf 93639137-87a5-48bb-a83b-e5114e86de70 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 5 44 0 0 0.014758 0 0 OSBPL9 114883 broad.mit.edu 37 1 52251509 52251509 + Nonsense_Mutation SNP C C G TCGA-DJ-A2PR-01A-11D-A19J-08 TCGA-DJ-A2PR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx be525078-277f-4f63-9e91-c9db569d85bf 93639137-87a5-48bb-a83b-e5114e86de70 g.chr1:52251509C>G ENST00000371710.3 + 21 2095 c.1913C>G c.(1912-1914)tCa>tGa p.S638* OSBPL9_ENST00000361556.5_Nonsense_Mutation_p.S510*|OSBPL9_ENST00000486942.1_Nonsense_Mutation_p.S442*|OSBPL9_ENST00000371714.1_Nonsense_Mutation_p.S607*|OSBPL9_ENST00000462759.1_Nonsense_Mutation_p.S442*|OSBPL9_ENST00000435686.2_Nonsense_Mutation_p.S455*|OSBPL9_ENST00000337809.4_Nonsense_Mutation_p.S625*|OSBPL9_ENST00000447887.1_Nonsense_Mutation_p.S630*|OSBPL9_ENST00000428468.1_Nonsense_Mutation_p.S620*|OSBPL9_ENST00000453295.1_Nonsense_Mutation_p.S603*|OSBPL9_ENST00000530544.1_Nonsense_Mutation_p.S539*|OSBPL9_ENST00000531828.1_Nonsense_Mutation_p.S455* NM_024586.5|NM_148906.2 NP_078862.4|NP_683704.2 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 620 lipid transport lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1) 18 TCTTTTTGCTCAATTGAAGGG 0.378000 4 62 0 0 0.014758 0 0 CHRNB4 1143 broad.mit.edu 37 15 78917360 78917360 + Missense_Mutation SNP T T G TCGA-DJ-A2PR-01A-11D-A19J-08 TCGA-DJ-A2PR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx be525078-277f-4f63-9e91-c9db569d85bf 93639137-87a5-48bb-a83b-e5114e86de70 g.chr15:78917360T>G ENST00000412074.2 - 5 744 c.633A>C c.(631-633)caA>caC p.Q211H CHRNB4_ENST00000261751.3_3'UTR NM_001256567.1 NP_001243496.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 0 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 TTTGATGGGGTTGATGGCCAA 0.582000 5 22 0 0 0.047766 0 0 AZGP1 563 broad.mit.edu 37 7 99569418 99569418 + Missense_Mutation SNP G G C TCGA-DJ-A2PR-01A-11D-A19J-08 TCGA-DJ-A2PR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx be525078-277f-4f63-9e91-c9db569d85bf 93639137-87a5-48bb-a83b-e5114e86de70 g.chr7:99569418G>C ENST00000411734.1 - 2 284 c.279C>G c.(277-279)atC>atG p.I93M AZGP1_ENST00000292401.4_Missense_Mutation_p.I96M P25311 ZA2G_HUMAN alpha-2-glycoprotein 1, zinc-binding 96 antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation extracellular region|MHC class I protein complex fatty acid binding|protein transmembrane transporter activity|ribonuclease activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1) 16 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) TCTCCATAAAGATGTCCTCCC 0.517000 6 118 0 0 0.021553 0 0 THBS1 7057 broad.mit.edu 37 15 39885603 39885603 + Missense_Mutation SNP G G A TCGA-DJ-A2PR-01A-11D-A19J-08 TCGA-DJ-A2PR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx be525078-277f-4f63-9e91-c9db569d85bf 93639137-87a5-48bb-a83b-e5114e86de70 g.chr15:39885603G>A ENST00000260356.5 + 19 3166 c.3001G>A c.(3001-3003)Gat>Aat p.D1001N NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 1001 TSP C-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) TCCAGGTTATGATGAGTTTAA 0.498000 17 415 0 0 0.038395 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A2PR-01A-11D-A19J-08 TCGA-DJ-A2PR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx be525078-277f-4f63-9e91-c9db569d85bf 93639137-87a5-48bb-a83b-e5114e86de70 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 20 19 0 0 0.043863 0 0 MAP3K3 4215 broad.mit.edu 37 17 61762904 61762904 + Missense_Mutation SNP A A T TCGA-DJ-A2PR-01A-11D-A19J-08 TCGA-DJ-A2PR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx be525078-277f-4f63-9e91-c9db569d85bf 93639137-87a5-48bb-a83b-e5114e86de70 g.chr17:61762904A>T ENST00000361357.3 + 9 1075 c.757A>T c.(757-759)Aat>Tat p.N253Y MAP3K3_ENST00000584573.1_Missense_Mutation_p.N253Y|MAP3K3_ENST00000579585.1_Missense_Mutation_p.N253Y|MAP3K3_ENST00000577395.1_Missense_Mutation_p.N222Y|MAP3K3_ENST00000361733.3_Missense_Mutation_p.N222Y NM_203351.1 NP_976226.1 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 222 MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 28 CAGTGCAGAAAATTCCTTGTC 0.512000 32 62 0 0 0.045705 0 0 SUOX 6821 broad.mit.edu 37 12 56396496 56396496 + Missense_Mutation SNP C C T TCGA-DJ-A2PR-01A-11D-A19J-08 TCGA-DJ-A2PR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx be525078-277f-4f63-9e91-c9db569d85bf 93639137-87a5-48bb-a83b-e5114e86de70 g.chr12:56396496C>T ENST00000394109.3 + 2 944 c.220C>T c.(220-222)Cgg>Tgg p.R74W SUOX_ENST00000548274.1_Missense_Mutation_p.R74W|SUOX_ENST00000394115.2_Missense_Mutation_p.R74W|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000356124.4_Missense_Mutation_p.R74W|SUOX_ENST00000266971.3_Missense_Mutation_p.R74W|SUOX_ENST00000551841.2_Missense_Mutation_p.R74W P51687 SUOX_HUMAN sulfite oxidase 74 mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6) 15 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) TCAGGACCATCGGTGTAGGGT 0.562000 20 78 0 0 0.049695 0 0 MYH14 79784 broad.mit.edu 37 19 50720898 50720898 + Silent SNP C C T TCGA-DJ-A2PR-01A-11D-A19J-08 TCGA-DJ-A2PR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx be525078-277f-4f63-9e91-c9db569d85bf 93639137-87a5-48bb-a83b-e5114e86de70 g.chr19:50720898C>T ENST00000440075.2 + 3 479 c.432C>T c.(430-432)gtC>gtT p.V144V MYH14_ENST00000601313.1_Silent_p.V144V|MYH14_ENST00000376970.2_Silent_p.V144V|MYH14_ENST00000596571.1_Silent_p.V144V|MYH14_ENST00000598205.1_Silent_p.V144V|MYH14_ENST00000425460.1_Silent_p.V144V|MYH14_ENST00000262269.8_Silent_p.V144V Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 144 Myosin head-like. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) TCTGTGTGGTCATCAACCCGT 0.597000 13 164 0 0 0.093190 0 0 POM121L9P 0 broad.mit.edu 37 22 24659591 24659591 + RNA SNP A A G TCGA-DJ-A2PR-01A-11D-A19J-08 TCGA-DJ-A2PR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx be525078-277f-4f63-9e91-c9db569d85bf 93639137-87a5-48bb-a83b-e5114e86de70 g.chr22:24659591A>G ENST00000414583.2 + 0 3116 NR_003714.1 ACTCACTGACATCGAAGGCTG 0.632000 4 27 0 0 0.009096 0 0 CRELD1 78987 broad.mit.edu 37 3 9976166 9976166 + Nonsense_Mutation SNP G G A TCGA-DJ-A2PR-01A-11D-A19J-08 TCGA-DJ-A2PR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx be525078-277f-4f63-9e91-c9db569d85bf 93639137-87a5-48bb-a83b-e5114e86de70 g.chr3:9976166G>A ENST00000383811.3 + 1 643 c.44G>A c.(43-45)tGg>tAg p.W15* CRELD1_ENST00000452070.1_Nonsense_Mutation_p.W15*|CRELD1_ENST00000397170.3_Nonsense_Mutation_p.W15*|CRELD1_ENST00000326434.5_Nonsense_Mutation_p.W15* NM_015513.4 NP_056328.2 Q96HD1 CREL1_HUMAN cysteine-rich with EGF-like domains 1 15 Pro-rich. cardiac septum development|endocardial cushion development integral to membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1) 14 GCTATGCTCTGGGGCCTCAGC 0.637000 5 96 0 0 0.021553 0 0 SLC39A7 7922 broad.mit.edu 37 6 33171577 33171577 + Missense_Mutation SNP C C T TCGA-DJ-A2PR-01A-11D-A19J-08 TCGA-DJ-A2PR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx be525078-277f-4f63-9e91-c9db569d85bf 93639137-87a5-48bb-a83b-e5114e86de70 g.chr6:33171577C>T ENST00000374677.3 + 7 1770 c.1397C>T c.(1396-1398)gCc>gTc p.A466V SLC39A7_ENST00000374675.3_Missense_Mutation_p.A466V|SLC39A7_ENST00000463972.1_3'UTR NM_006979.2 NP_008910.2 Q92504 S39A7_HUMAN solute carrier family 39 (zinc transporter), member 7 466 CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305). endoplasmic reticulum membrane|integral to membrane|membrane fraction protein binding|zinc ion transmembrane transporter activity NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 GTGCTGATTGCCCACCTTGAG 0.597000 23 54 0 0 0.069288 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144930820 144930821 + Frame_Shift_Ins INS - - TT TCGA-DJ-A2PR-01A-11D-A19J-08 TCGA-DJ-A2PR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx be525078-277f-4f63-9e91-c9db569d85bf 93639137-87a5-48bb-a83b-e5114e86de70 g.chr1:144930820_144930821insTT ENST00000529945.1 - 1 1327_1328 c.888_889insAA c.(886-891)aagtctfs p.KS296fs PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000313431.9_Frame_Shift_Ins_p.KS296fs|PDE4DIP_ENST00000530740.1_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TAATCAAGACCTTTAATCATGC 0.505 T PDGFRB MPD 14 208 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102306788 102306790 + RNA DEL GTA GTA - TCGA-DJ-A2PR-01A-11D-A19J-08 TCGA-DJ-A2PR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx be525078-277f-4f63-9e91-c9db569d85bf 93639137-87a5-48bb-a83b-e5114e86de70 g.chr15:102306788_102306790delGTA ENST00000561463.1 + 0 13180 TTAGTCTGTTGTAGTGGTGAGCT 0.507 3 5 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30990483 30990483 + Frame_Shift_Del DEL C C - TCGA-DJ-A2PR-01A-11D-A19J-08 TCGA-DJ-A2PR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx be525078-277f-4f63-9e91-c9db569d85bf 93639137-87a5-48bb-a83b-e5114e86de70 g.chr16:30990483delC ENST00000262519.8 + 14 4062 c.3376delC c.(3376-3378)ccfs p.P1127fs NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1127 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 GGAGGAGTCACCCCCCAGTGC 0.697 2 4 --- --- --- --- CDK5RAP3 80279 broad.mit.edu 37 17 46051311 46051311 + Frame_Shift_Del DEL C C - TCGA-DJ-A2PR-01A-11D-A19J-08 TCGA-DJ-A2PR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx be525078-277f-4f63-9e91-c9db569d85bf 93639137-87a5-48bb-a83b-e5114e86de70 g.chr17:46051311delC ENST00000536708.2 + 4 383 c.274delC c.(274-276)acfs p.H92fs CDK5RAP3_ENST00000338399.4_Frame_Shift_Del_p.H67fs|RP11-6N17.9_ENST00000582262.1_RNA NM_001278197.1 NP_001265126.1 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 67 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 18 TCACTACTTTCACTGCCTAAG 0.463 7 196 --- --- --- --- UTP14A 10813 broad.mit.edu 37 X 129040214 129040215 + Splice_Site INS - - GAAGGGC TCGA-DJ-A2PR-01A-11D-A19J-08 TCGA-DJ-A2PR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx be525078-277f-4f63-9e91-c9db569d85bf 93639137-87a5-48bb-a83b-e5114e86de70 g.chrX:129040214_129040215insGAAGGGC ENST00000394422.3 + 1 54 c.e1+2 UTP14A_ENST00000425117.2_Splice_Site|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Splice_Site NM_006649.3 NP_006640.2 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) rRNA processing nucleolus|small-subunit processome protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1) 32 TGCAGAGAGGTGAAGGGCAACG 0.589 16 48 --- --- --- ---