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 QRFPR 84109 broad.mit.edu 37 4 122250693 122250693 + Missense_Mutation SNP G G C TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr4:122250693G>C ENST00000394427.2 - 6 1483 c.1072C>G c.(1072-1074)Cca>Gca p.P358A QRFPR_ENST00000334383.5_3'UTR NM_198179.2 NP_937822.2 Q96P65 QRFPR_HUMAN pyroglutamylated RFamide peptide receptor 358 plasma membrane neuropeptide Y receptor activity endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1) 28 CTTTGTGCTGGAGAGAAGGTT 0.368000 6 140 0 0 1 0 0 MACROD1 28992 broad.mit.edu 37 11 63767229 63767229 + Missense_Mutation SNP A A G TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr11:63767229A>G ENST00000255681.6 - 6 737 c.671T>C c.(670-672)aTc>aCc p.I224T OTUB1_ENST00000535715.1_Intron NM_014067.3 NP_054786.2 Q9BQ69 MACD1_HUMAN MACRO domain containing 1 224 Macro. breast(1)|large_intestine(3)|lung(6)|skin(1) 11 CACTGTGTGGATGACGTCTAC 0.701000 3 3 0 0 1 0 0 RNF149 284996 broad.mit.edu 37 2 101893717 101893717 + Missense_Mutation SNP C C T TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr2:101893717C>T ENST00000295317.3 - 7 1293 c.1186G>A c.(1186-1188)Gga>Aga p.G396R NM_173647.3 NP_775918.2 Q8NC42 RN149_HUMAN ring finger protein 149 396 integral to membrane ligase activity|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12 ATGGGTCCTCCATGCCGAGAG 0.458000 15 29 0 0 1 0 0 SLC35C1 55343 broad.mit.edu 37 11 45827751 45827751 + Silent SNP C C G TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr11:45827751C>G ENST00000314134.3 + 1 1795 c.399C>G c.(397-399)ctC>ctG p.L133L SLC35C1_ENST00000456334.1_Silent_p.L120L|SLC35C1_ENST00000442528.2_Silent_p.L120L NM_018389.4 NP_060859.4 Q96A29 FUCT1_HUMAN solute carrier family 35 (GDP-fucose transporter), member C1 133 Golgi membrane|integral to membrane GDP-fucose transmembrane transporter activity endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 GBM - Glioblastoma multiforme(35;0.227) TCAATAACCTCTGCCTCAAGT 0.607000 28 10 0 0 1 0 0 CCR8 1237 broad.mit.edu 37 3 39374010 39374010 + Missense_Mutation SNP G G A TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr3:39374010G>A ENST00000326306.4 + 2 326 c.188G>A c.(187-189)tGc>tAc p.C63Y CCR8_ENST00000414803.1_Intron|CCR8_ENST00000545843.1_Intron NM_005201.3 NP_005192.1 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 63 cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) CTTGTGGTCTGCAAGAAGCTG 0.478000 4 161 0 0 1 0 0 WASH3P 374666 broad.mit.edu 37 15 102516511 102516511 + RNA SNP C C T TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr15:102516511C>T ENST00000557932.1 + 0 1459 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 AGACTTGGGCCGTTGCTCTGA 0.627000 3 45 0 0 1 0 0 NUCKS1 64710 broad.mit.edu 37 1 205687522 205687522 + Silent SNP T T C TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr1:205687522T>C ENST00000367142.4 - 7 920 c.618A>G c.(616-618)aaA>aaG p.K206K NM_022731.4 NP_073568.2 Q9H1E3 NUCKS_HUMAN nuclear casein kinase and cyclin-dependent kinase substrate 1 206 Lys-rich. nucleus endometrium(4)|large_intestine(1)|lung(9) 14 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) CATCTTCTTCTTTGGGAGAAG 0.493000 93 155 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 4 88 0 0 1 0 0 TMEM2 23670 broad.mit.edu 37 9 74360015 74360015 + Missense_Mutation SNP G G A TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr9:74360015G>A ENST00000377044.4 - 4 1492 c.953C>T c.(952-954)gCc>gTc p.A318V TMEM2_ENST00000377066.5_Missense_Mutation_p.A318V NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 318 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) ACTTTTAGCGGCTGAATCCCC 0.507000 4 150 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25168471 25168471 + RNA SNP C C T rs61946941 by1000genomes TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr13:25168471C>T ENST00000453498.1 + 0 1143 CATCTCTGTACGATGATGTGA 0.358000 4 60 0 0 1 0 0 FZD8 8325 broad.mit.edu 37 10 35928890 35928890 + Missense_Mutation SNP C C A TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr10:35928890C>A ENST00000374694.1 - 1 1472 c.1468G>T c.(1468-1470)Gtc>Ttc p.V490F NM_031866.2 NP_114072.1 Q9H461 FZD8_HUMAN frizzled family receptor 8 490 axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 11 AGGTAGATGACCAGCGGCGCC 0.662000 3 24 0.115264 0.115264 1 1 0 WASF3 10810 broad.mit.edu 37 13 27255299 27255299 + Silent SNP C C T TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr13:27255299C>T ENST00000361042.4 + 8 1041 c.816C>T c.(814-816)caC>caT p.H272H WASF3_ENST00000335327.5_Silent_p.H275H Q9UPY6 WASF3_HUMAN WAS protein family, member 3 275 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) TGCCACCACACGGGCCTGCAA 0.652000 4 135 0 0 1 0 0 RAB35 11021 broad.mit.edu 37 12 120536942 120536942 + Missense_Mutation SNP G G A TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr12:120536942G>A ENST00000229340.5 - 4 432 c.244C>T c.(244-246)Cac>Tac p.H82Y RAB35_ENST00000543364.1_5'UTR|RAB35_ENST00000534951.1_Missense_Mutation_p.H82Y NM_001167606.1|NM_006861.6 NP_001161078.1|NP_006852.1 Q15286 RAB35_HUMAN RAB35, member RAS oncogene family 82 cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding endometrium(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.248) ATGACCCCGTGGGTCCCCCGA 0.597000 32 33 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596193 24596193 + Missense_Mutation SNP G G A TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr6:24596193G>A ENST00000535378.1 - 4 1324 c.682C>T c.(682-684)Ccc>Tcc p.P228S KIAA0319_ENST00000537886.1_Missense_Mutation_p.P237S|KIAA0319_ENST00000430948.2_Missense_Mutation_p.P192S|KIAA0319_ENST00000378214.3_Missense_Mutation_p.P237S|KIAA0319_ENST00000543707.1_Missense_Mutation_p.P237S NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 237 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 GTCGGCAAGGGAAGCAACACA 0.542000 15 64 0 0 1 0 0 ZMYND10 51364 broad.mit.edu 37 3 50379081 50379081 + Missense_Mutation SNP G G A rs150467144 byFrequency TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr3:50379081G>A ENST00000231749.3 - 11 2443 c.1171C>T c.(1171-1173)Cgg>Tgg p.R391W ZMYND10_ENST00000360165.3_Missense_Mutation_p.R386W|ZMYND10_ENST00000490675.1_5'UTR|ZMYND10-AS1_ENST00000440013.1_RNA NM_015896.2 NP_056980.2 O75800 ZMY10_HUMAN zinc finger, MYND-type containing 10 391 cytoplasm protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CAGCGGGGCCGCTCTGGAGCC 0.602000 TSP Lung(30;0.18) 4 59 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70757730 70757730 + Silent SNP T T C TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr5:70757730T>C ENST00000358731.4 + 3 839 c.576T>C c.(574-576)taT>taC p.Y192Y BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 192 Interaction with ZBTB43. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TCATATATTATCTACCAGATA 0.308000 8 148 0 0 1 0 0 MLXIP 22877 broad.mit.edu 37 12 122611891 122611891 + Missense_Mutation SNP C C T TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr12:122611891C>T ENST00000319080.6 + 2 634 c.502C>T c.(502-504)Cgg>Tgg p.R168W Q9HAP2 MLXIP_HUMAN MLX interacting protein 168 Required for cytoplasmic localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) TGCCATCTGGCGGGCCTGGTA 0.587000 12 15 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50734115 50734115 + Nonsense_Mutation SNP C C T TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr18:50734115C>T ENST00000442544.2 + 11 2405 c.1789C>T c.(1789-1791)Cga>Tga p.R597* DCC_ENST00000581580.1_Nonsense_Mutation_p.R252*|DCC_ENST00000412726.1_Nonsense_Mutation_p.R445* NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 597 Fibronectin type-III 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) ATATAGTCTTCGATTCTTAGC 0.373000 5 211 0 0 1 0 0 MTHFD1L 25902 broad.mit.edu 37 6 151336057 151336057 + Silent SNP G G A TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr6:151336057G>A ENST00000367321.3 + 23 2623 c.2349G>A c.(2347-2349)aaG>aaA p.K783K NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 783 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) ACCTCCAGAAGCAAATTCAGA 0.478000 OREG0017732 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 73 0 0 1 0 0 PAK3 5063 broad.mit.edu 37 X 110439691 110439691 + Silent SNP C C G TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chrX:110439691C>G ENST00000519681.1 + 17 1735 c.1293C>G c.(1291-1293)gcC>gcG p.A431A PAK3_ENST00000446737.1_Silent_p.A410A|PAK3_ENST00000425146.1_Silent_p.A410A|PAK3_ENST00000372007.4_Silent_p.A410A|PAK3_ENST00000372010.1_Silent_p.A425A|PAK3_ENST00000518291.1_Silent_p.A446A|PAK3_ENST00000360648.4_Silent_p.A446A|PAK3_ENST00000262836.4_Silent_p.A425A|PAK3_ENST00000417227.1_Silent_p.A431A O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 425 Protein kinase. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 GGTTCTGTGCCCAGATCACTC 0.433000 TSP Lung(19;0.15) 13 115 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 6 57 0 0 1 0 0 RSF1 51773 broad.mit.edu 37 11 77386295 77386295 + Silent SNP T T C TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr11:77386295T>C ENST00000308488.6 - 14 3650 c.3348A>G c.(3346-3348)caA>caG p.Q1116Q RSF1_ENST00000480887.1_Silent_p.Q864Q|RSF1_ENST00000360355.2_Silent_p.Q1085Q Q96T23 RSF1_HUMAN remodeling and spacing factor 1 1116 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) CAAACTCATCTTGAGATCTGT 0.398000 16 8 0 0 1 0 0 ECHDC2 55268 broad.mit.edu 37 1 53377454 53377454 + Missense_Mutation SNP C C T TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr1:53377454C>T ENST00000371522.4 - 2 223 c.130G>A c.(130-132)Gag>Aag p.E44K ECHDC2_ENST00000536120.1_5'UTR|ECHDC2_ENST00000541281.1_5'UTR|ECHDC2_ENST00000480312.2_5'UTR|ECHDC2_ENST00000358358.5_Missense_Mutation_p.E44K NM_001198961.1 NP_001185890.1 Q86YB7 ECHD2_HUMAN enoyl CoA hydratase domain containing 2 44 fatty acid metabolic process mitochondrion lyase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 12 ATCAGAATCTCAGTGATCCCT 0.617000 22 15 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 83029537 83029537 + Silent SNP G G A TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr7:83029537G>A ENST00000307792.3 - 11 1640 c.1173C>T c.(1171-1173)taC>taT p.Y391Y SEMA3E_ENST00000427262.1_Silent_p.Y331Y NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 391 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) TGGTGGTTCCGTATCTCCCTC 0.388000 4 105 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14745942 14745942 + Missense_Mutation SNP G G A TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr3:14745942G>A ENST00000253697.3 + 7 1429 c.977G>A c.(976-978)cGc>cAc p.R326H C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000412910.1_Missense_Mutation_p.R204H|C3orf20_ENST00000435614.1_Missense_Mutation_p.R204H NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 326 cytoplasm|integral to membrane p.R326H(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 ATGTTGGCCCGCAAAGGAGAC 0.517000 4 122 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109695456 109695456 + Silent SNP C C T TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chrX:109695456C>T ENST00000465301.2 + 3 1857 c.1611C>T c.(1609-1611)tcC>tcT p.S537S RGAG1_ENST00000540313.1_Silent_p.S537S NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 537 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 GATCAATGTCCATGCTGCAAA 0.502000 84 126 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135323404 135323404 + Missense_Mutation SNP A A G TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr7:135323404A>G ENST00000285968.6 + 38 5391 c.5365A>G c.(5365-5367)Aca>Gca p.T1789A NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 1789 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 CCTTTCAGAAACAGTTAATAG 0.438000 5 161 0 0 1 0 0 IQSEC2 23096 broad.mit.edu 37 X 53268384 53268384 + Missense_Mutation SNP C C A TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chrX:53268384C>A ENST00000396435.3 - 11 3308 c.3108G>T c.(3106-3108)caG>caT p.Q1036H IQSEC2_ENST00000375365.2_Missense_Mutation_p.Q831H|IQSEC2_ENST00000375368.5_Missense_Mutation_p.Q1026H NM_001111125.2 NP_001104595.1 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 1026 PH. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29 CACATGAATTCTGGAAGAGCT 0.502000 OREG0019800 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 53 5.9392e-07 6.28856e-07 1 1 0 SLC38A4 55089 broad.mit.edu 37 12 47172479 47172479 + Silent SNP C C T TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr12:47172479C>T ENST00000447411.1 - 10 1004 c.798G>A c.(796-798)acG>acA p.T266T SLC38A4_ENST00000266579.4_Silent_p.T266T NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 266 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) GCATTGGAAGCGTGTTGTTGA 0.428000 35 46 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107930801 107930801 + Missense_Mutation SNP C C A TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chrX:107930801C>A ENST00000328300.6 + 49 4649 c.4405C>A c.(4405-4407)Ctt>Att p.L1469I COL4A5_ENST00000361603.2_Missense_Mutation_p.L1463I NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1463 Collagen IV NC1. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 ACATGGATTTCTTATTACACG 0.517000 Alport syndrome with Diffuse Leiomyomatosis 4 140 0.00909568 0.00935556 1 1 0 STXBP3 6814 broad.mit.edu 37 1 109338934 109338934 + Frame_Shift_Del DEL A A - TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr1:109338934delA ENST00000370008.3 + 14 1239 c.1189delA c.(1189-1191)aafs p.K397fs NM_007269.2 NP_009200.2 O00186 STXB3_HUMAN syntaxin binding protein 3 397 negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule syntaxin-2 binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1) 13 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) TCTACTCAACAAAAATCATGA 0.308 19 32 --- --- --- --- CDS1 1040 broad.mit.edu 37 4 85556474 85556475 + Frame_Shift_Ins INS - - T TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr4:85556474_85556475insT ENST00000295887.5 + 8 1203_1204 c.780_781insT c.(778-783)ggttttfs p.GF260fs NM_001263.3 NP_001254.2 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 260 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity p.G260G(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) ACCTTTTTGGATTTTTTTTTGG 0.307 9 107 --- --- --- --- DTX2 113878 broad.mit.edu 37 7 76112249 76112249 + Frame_Shift_Del DEL A A - rs147779783 byFrequency TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr7:76112249delA ENST00000324432.5 + 5 1203 c.693delA c.(691-693)ccfs p.P231fs DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 231 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 AGCACCCCCCACACAGGACCG 0.657 8 413 --- --- --- --- SFRP1 6422 broad.mit.edu 37 8 41166638 41166640 + In_Frame_Del DEL GCT GCT - rs3055861 TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr8:41166638_41166640delGCT ENST00000220772.3 - 1 376_378 c.39_41delAGC c.(37-42)gcc>gc p.AA13del NM_003012.4 NP_003003.3 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 13 brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) CACGCCCAGGGCTGCCCCGCGGC 0.764 3 4 --- --- --- --- UBE2W 55284 broad.mit.edu 37 8 74737421 74737421 + Frame_Shift_Del DEL T T - TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr8:74737421delT ENST00000517608.1 - 3 258 c.258delA c.(256-258)ctfs p.L86fs UBE2W_ENST00000602969.1_Frame_Shift_Del_p.L68fs|UBE2W_ENST00000453587.2_Frame_Shift_Del_p.L57fs|UBE2W_ENST00000419880.3_Frame_Shift_Del_p.L97fs|RP11-463D19.2_ENST00000358757.5_Frame_Shift_Del_p.L57fs|UBE2W_ENST00000602593.1_Frame_Shift_Del_p.L57fs Q96B02 UBE2W_HUMAN ubiquitin-conjugating enzyme E2W (putative) 57 protein K11-linked ubiquitination|protein monoubiquitination ATP binding|protein binding|ubiquitin-protein ligase activity kidney(1)|lung(1) 2 Breast(64;0.0311) Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069) TAAATTTAAATAGAAGTTGAA 0.313 2 4 --- --- --- --- LRRC27 80313 broad.mit.edu 37 10 134169317 134169317 + Frame_Shift_Del DEL G G - TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr10:134169317delG ENST00000368610.3 + 7 911 c.911delG c.(910-912)tgfs p.W304fs LRRC27_ENST00000368612.1_Frame_Shift_Del_p.W304fs|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000432555.2_Frame_Shift_Del_p.W239fs|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368614.3_Frame_Shift_Del_p.W366fs|LRRC27_ENST00000368613.4_Frame_Shift_Del_p.W366fs Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 366 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 18 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) CTGCAGGAGTGGAGAGAGCGA 0.572 2 4 --- --- --- --- ZNF559 84527 broad.mit.edu 37 19 9452027 9452028 + Frame_Shift_Del DEL CT CT - rs55837495 TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chr19:9452027_9452028delCT ENST00000592504.1 + 6 665_666 c.410_411delCT c.(409-411)afs p.T137fs ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000587557.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000538743.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000603380.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000585352.1_Intron|ZNF559_ENST00000393883.2_Intron|ZNF559_ENST00000592896.1_Intron Q9BR84 ZN559_HUMAN zinc finger protein 559 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 TTGACAAACACTCTAAACATCC 0.347 4 2 --- --- --- --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0 394f8b07-8cbd-4f98-80a5-b757a66d82fe g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 7 8 --- --- --- ---