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 AHI1 54806 broad.mit.edu 37 6 135784313 135784313 + Missense_Mutation SNP T T C TCGA-EL-A3ZP-01A-11D-A23M-08 TCGA-EL-A3ZP-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5abd938-1b6a-428e-b8bf-27735c50eda0 09b2073c-4af3-4cd5-a3bb-bdeac945d63b g.chr6:135784313T>C ENST00000367800.4 - 6 1097 c.881A>G c.(880-882)cAa>cGa p.Q294R AHI1_ENST00000327035.6_Missense_Mutation_p.Q294R|AHI1_ENST00000457866.2_Missense_Mutation_p.Q294R NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 294 adherens junction|cilium|microtubule basal body p.Q294R(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) TGTATCATCTTGCATGCTGTC 0.313000 5 66 0 0 1 0 0 ST6GALNAC2 10610 broad.mit.edu 37 17 74562272 74562272 + Missense_Mutation SNP A A G TCGA-EL-A3ZP-01A-11D-A23M-08 TCGA-EL-A3ZP-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5abd938-1b6a-428e-b8bf-27735c50eda0 09b2073c-4af3-4cd5-a3bb-bdeac945d63b g.chr17:74562272A>G ENST00000225276.5 - 9 1358 c.1039T>C c.(1039-1041)Ttt>Ctt p.F347L NM_006456.2 NP_006447.2 Q9UJ37 SIA7B_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 347 protein glycosylation integral to Golgi membrane sialyltransferase activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 11 TTTGCATAAAATATCAATGGC 0.502000 58 92 0 0 1 0 0 PNKP 11284 broad.mit.edu 37 19 50370414 50370414 + Silent SNP A A G TCGA-EL-A3ZP-01A-11D-A23M-08 TCGA-EL-A3ZP-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5abd938-1b6a-428e-b8bf-27735c50eda0 09b2073c-4af3-4cd5-a3bb-bdeac945d63b g.chr19:50370414A>G ENST00000322344.3 - 2 157 c.48T>C c.(46-48)ccT>ccC p.P16P PNKP_ENST00000600573.1_Silent_p.P16P|PNKP_ENST00000600910.1_Silent_p.P16P|PNKP_ENST00000596014.1_Silent_p.P16P|PNKP_ENST00000595792.1_5'UTR NM_007254.3 NP_009185.2 Q96T60 PNKP_HUMAN polynucleotide kinase 3'-phosphatase 16 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding p.P16P(8) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) GCGCTCCCCCAGGGGGGCTCT 0.721000 Other BER factors 7 25 0 0 1 0 0 OR5B2 390190 broad.mit.edu 37 11 58190069 58190069 + Silent SNP G G A TCGA-EL-A3ZP-01A-11D-A23M-08 TCGA-EL-A3ZP-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5abd938-1b6a-428e-b8bf-27735c50eda0 09b2073c-4af3-4cd5-a3bb-bdeac945d63b g.chr11:58190069G>A ENST00000302581.2 - 1 717 c.666C>T c.(664-666)acC>acT p.T222T NM_001005566.2 NP_001005566.1 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, member 2 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Esophageal squamous(5;0.0027) Breast(21;0.0778) TCTTCAAGATGGTGATGAATA 0.383000 5 65 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-EL-A3ZP-01A-11D-A23M-08 TCGA-EL-A3ZP-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5abd938-1b6a-428e-b8bf-27735c50eda0 09b2073c-4af3-4cd5-a3bb-bdeac945d63b g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 3 35 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31572963 31572963 + Missense_Mutation SNP C C G TCGA-EL-A3ZP-01A-11D-A23M-08 TCGA-EL-A3ZP-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5abd938-1b6a-428e-b8bf-27735c50eda0 09b2073c-4af3-4cd5-a3bb-bdeac945d63b g.chr2:31572963C>G ENST00000379416.3 - 25 2806 c.2758G>C c.(2758-2760)Ggg>Cgg p.G920R NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 920 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) ATGAGCATCCCCTGGGGCCCC 0.577000 8 197 0 0 1 0 0 TP53BP2 7159 broad.mit.edu 37 1 223986347 223986347 + Silent SNP A A C TCGA-EL-A3ZP-01A-11D-A23M-08 TCGA-EL-A3ZP-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5abd938-1b6a-428e-b8bf-27735c50eda0 09b2073c-4af3-4cd5-a3bb-bdeac945d63b g.chr1:223986347A>C ENST00000391878.2 - 13 1899 c.1131T>G c.(1129-1131)ccT>ccG p.P377P TP53BP2_ENST00000343537.7_Silent_p.P506P|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Intron NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 500 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) TAGGAACAGGAGGTGGTACTT 0.368000 31 53 0 0 1 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171773196 171773196 + Missense_Mutation SNP C C T TCGA-EL-A3ZP-01A-11D-A23M-08 TCGA-EL-A3ZP-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5abd938-1b6a-428e-b8bf-27735c50eda0 09b2073c-4af3-4cd5-a3bb-bdeac945d63b g.chr5:171773196C>T ENST00000311601.5 - 12 1302 c.1132G>A c.(1132-1134)Gaa>Aaa p.E378K SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.E378K NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 378 SH3 3. adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GTCTGGAATTCGGCGATGGTG 0.567000 82 143 0 0 1 0 0 RP11-119F19.2 0 broad.mit.edu 37 10 81443821 81443821 + RNA SNP C C G rs150975459 by1000genomes TCGA-EL-A3ZP-01A-11D-A23M-08 TCGA-EL-A3ZP-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5abd938-1b6a-428e-b8bf-27735c50eda0 09b2073c-4af3-4cd5-a3bb-bdeac945d63b g.chr10:81443821C>G ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA GCAGCACCATCGCCTCAGACC 0.612000 3 33 0 0 1 0 0 CDC37L1 55664 broad.mit.edu 37 9 4684993 4684993 + Silent SNP G G A TCGA-EL-A3ZP-01A-11D-A23M-08 TCGA-EL-A3ZP-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5abd938-1b6a-428e-b8bf-27735c50eda0 09b2073c-4af3-4cd5-a3bb-bdeac945d63b g.chr9:4684993G>A ENST00000381854.3 + 2 451 c.249G>A c.(247-249)ctG>ctA p.L83L CDC37L1_ENST00000479095.1_3'UTR|CDC37L1_ENST00000381858.1_Silent_p.L83L NM_017913.2 NP_060383.2 Q7L3B6 CD37L_HUMAN cell division cycle 37-like 1 83 Self-association. cytoplasm breast(1)|kidney(1)|lung(2) 4 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0318) GCTTAGCACTGCATAATTCTG 0.463000 4 72 0 0 1 0 0 CHRNB4 1143 broad.mit.edu 37 15 78917350 78917350 + Missense_Mutation SNP T T G TCGA-EL-A3ZP-01A-11D-A23M-08 TCGA-EL-A3ZP-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5abd938-1b6a-428e-b8bf-27735c50eda0 09b2073c-4af3-4cd5-a3bb-bdeac945d63b g.chr15:78917350T>G ENST00000412074.2 - 5 754 c.643A>C c.(643-645)Acc>Ccc p.T215P 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 CTGTGGCTGGTTTGATGGGGT 0.572000 6 31 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23833371 23833371 + Missense_Mutation SNP T T C TCGA-EL-A3ZP-01A-11D-A23M-08 TCGA-EL-A3ZP-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5abd938-1b6a-428e-b8bf-27735c50eda0 09b2073c-4af3-4cd5-a3bb-bdeac945d63b g.chr4:23833371T>C ENST00000264867.2 - 3 357 c.238A>G c.(238-240)Ata>Gta p.I80V PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 80 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) TCTTCATCTATCTTCTGCAGA 0.458000 79 118 0 0 1 0 0 RNF168 165918 broad.mit.edu 37 3 196214338 196214338 + Frame_Shift_Del DEL T T - TCGA-EL-A3ZP-01A-11D-A23M-08 TCGA-EL-A3ZP-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5abd938-1b6a-428e-b8bf-27735c50eda0 09b2073c-4af3-4cd5-a3bb-bdeac945d63b g.chr3:196214338delT ENST00000318037.3 - 3 1084 c.490delA c.(490-492)ggfs p.R166fs NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase 166 Glu-rich. double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) GCTCTTCGCCTTTTTTCTGCC 0.448 7 379 --- --- --- --- YTHDC2 64848 broad.mit.edu 37 5 112862416 112862417 + Frame_Shift_Ins INS - - A TCGA-EL-A3ZP-01A-11D-A23M-08 TCGA-EL-A3ZP-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5abd938-1b6a-428e-b8bf-27735c50eda0 09b2073c-4af3-4cd5-a3bb-bdeac945d63b g.chr5:112862416_112862417insA ENST00000161863.4 + 4 822_823 c.609_610insA c.(607-612)gtaaatfs p.N204fs YTHDC2_ENST00000515883.1_Frame_Shift_Ins_p.N204fs NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 204 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) AAGAAATTGTTAAAATAATTAA 0.327 7 90 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396277 + RNA DEL G G - rs148140777 by1000genomes TCGA-EL-A3ZP-01A-11D-A23M-08 TCGA-EL-A3ZP-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5abd938-1b6a-428e-b8bf-27735c50eda0 09b2073c-4af3-4cd5-a3bb-bdeac945d63b g.chr10:118396277delG ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTT 0.423 5 8 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-EL-A3ZP-01A-11D-A23M-08 TCGA-EL-A3ZP-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5abd938-1b6a-428e-b8bf-27735c50eda0 09b2073c-4af3-4cd5-a3bb-bdeac945d63b g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 9 249 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547135 132547136 + In_Frame_Ins INS - - CAG rs144787206 byFrequency TCGA-EL-A3ZP-01A-11D-A23M-08 TCGA-EL-A3ZP-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5abd938-1b6a-428e-b8bf-27735c50eda0 09b2073c-4af3-4cd5-a3bb-bdeac945d63b g.chr12:132547135_132547136insCAG ENST00000333577.4 + 48 8440_8441 c.8331_8332insCAG c.(8329-8334)caaaca>caCAGaaca p.2777_2777Q>HR EP400_ENST00000330386.6_In_Frame_Ins_p.2660_2660Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2704_2704Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2741_2741Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2740_2740Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2777 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacagcagca 0.589 9 99 --- --- --- --- RRN3P1 0 broad.mit.edu 37 16 21817398 21817399 + RNA INS - - A rs144931984 by1000genomes TCGA-EL-A3ZP-01A-11D-A23M-08 TCGA-EL-A3ZP-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5abd938-1b6a-428e-b8bf-27735c50eda0 09b2073c-4af3-4cd5-a3bb-bdeac945d63b g.chr16:21817398_21817399insA ENST00000546471.1 - 0 1607 TAAATGaaaataaaaaaataaa 0.302 3 3 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-EL-A3ZP-01A-11D-A23M-08 TCGA-EL-A3ZP-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5abd938-1b6a-428e-b8bf-27735c50eda0 09b2073c-4af3-4cd5-a3bb-bdeac945d63b g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 8 6 --- --- --- ---