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 LRP1B 53353 broad.mit.edu 37 2 141259355 141259355 + Silent SNP G G A rs148504930 TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr2:141259355G>A ENST00000389484.3 - 55 9722 c.8751C>T c.(8749-8751)ggC>ggT p.G2917G NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2917 LDL-receptor class A 20. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.G2917G(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTGAACCATCGCCACAGTCAT 0.408000 TSP Lung(27;0.18) 6 103 0 0 1 0 0 PCDHB14 0 broad.mit.edu 37 5 140605445 140605445 + Nonsense_Mutation SNP C C T TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr5:140605445C>T ENST00000239449.4 + 1 2368 c.2368C>T c.(2368-2370)Cga>Tga p.R790* PCDHB14_ENST00000515856.2_Nonsense_Mutation_p.R637* NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 790 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.R790*(2) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGAGAACTTTCGAAATAGCTT 0.343000 13 130 0 0 1 0 0 FZD10 11211 broad.mit.edu 37 12 130647553 130647553 + Missense_Mutation SNP C C A TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr12:130647553C>A ENST00000229030.4 + 1 550 c.66C>A c.(64-66)agC>agA p.S22R FZD10_ENST00000539839.1_5'UTR Q9ULW2 FZD10_HUMAN frizzled family receptor 10 22 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.S22R(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CCGCCATCAGCTCCATGGACA 0.667000 4 11 1 1 1 1 0 OR7A17 26333 broad.mit.edu 37 19 14991753 14991753 + Missense_Mutation SNP G G A TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr19:14991753G>A ENST00000327462.2 - 1 511 c.415C>T c.(415-417)Cgg>Tgg p.R139W NM_030901.1 NP_112163.1 O14581 OR7AH_HUMAN olfactory receptor, family 7, subfamily A, member 17 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R139W(1) breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Ovarian(108;0.203) CCACAGAGCCGAGGGTTCATG 0.498000 14 135 0 0 1 0 0 UACA 55075 broad.mit.edu 37 15 70959403 70959403 + Missense_Mutation SNP T T A TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr15:70959403T>A ENST00000322954.6 - 16 3805 c.3620A>T c.(3619-3621)gAg>gTg p.E1207V UACA_ENST00000560441.1_Missense_Mutation_p.E1192V|UACA_ENST00000539319.1_Missense_Mutation_p.E1098V|UACA_ENST00000379983.2_Missense_Mutation_p.E1194V NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 1207 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 ATTCTGAACCTCCGACTGAAG 0.348000 6 262 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49660162 49660162 + Missense_Mutation SNP T T C TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr16:49660162T>C ENST00000561648.1 - 5 3549 c.3496A>G c.(3496-3498)Aag>Gag p.K1166E ZNF423_ENST00000562871.1_Missense_Mutation_p.K1106E|ZNF423_ENST00000562520.1_Missense_Mutation_p.K1106E|ZNF423_ENST00000567169.1_Missense_Mutation_p.K1049E|ZNF423_ENST00000262383.2_Missense_Mutation_p.K1166E|ZNF423_ENST00000535559.1_Missense_Mutation_p.K1049E|ZNF423_ENST00000563137.2_Missense_Mutation_p.K1106E NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1166 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) TGGTATGTCTTTTTCTGTTTG 0.448000 6 306 0 0 1 0 0 ACBD7 414149 broad.mit.edu 37 10 15120540 15120540 + Missense_Mutation SNP A A C TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr10:15120540A>C ENST00000356189.5 - 4 303 c.256T>G c.(256-258)Tac>Gac p.Y86D ACBD7_ENST00000496890.1_5'UTR NM_001039844.2 NP_001034933.1 Q8N6N7 ACBD7_HUMAN acyl-CoA binding domain containing 7 86 ACB. fatty-acyl-CoA binding p.Y86D(1) endometrium(1)|lung(4)|prostate(1) 6 TAAATTCCGTATTTTTCTATC 0.393000 20 212 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 4 52 0 0 1 0 0 NEFM 4741 broad.mit.edu 37 8 24775449 24775449 + Missense_Mutation SNP C C A TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr8:24775449C>A ENST00000221166.5 + 3 2863 c.2081C>A c.(2080-2082)gCa>gAa p.A694E NEFM_ENST00000437366.2_Missense_Mutation_p.A655E|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.A318E|NEFM_ENST00000518131.1_Intron P07197 NFM_HUMAN neurofilament, medium polypeptide 694 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) aagtcaaaagcagaagtgggg 0.448000 3 55 0.115264 0.128824 1 1 0 CLVS1 157807 broad.mit.edu 37 8 62212651 62212651 + Missense_Mutation SNP G G T TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr8:62212651G>T ENST00000519846.1 + 3 737 c.265G>T c.(265-267)Gat>Tat p.D89Y CLVS1_ENST00000325897.4_Missense_Mutation_p.D89Y|CLVS1_ENST00000518592.1_Intron Q8IUQ0 CLVS1_HUMAN clavesin 1 89 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity p.D89Y(1) endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TCACCAAGCGGATGCCTTTAG 0.483000 5 91 0.0215528 0.0255939 1 1 0 CCT6P1 0 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 3 21 2.56e-06 3.47429e-06 1 1 0 MT-ND4 4538 broad.mit.edu 37 MT 11402 11402 + Missense_Mutation SNP T T C TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chrM:11402T>C ENST00000361381.2 + 1 643 c.643T>C c.(643-645)Tga>Cga p.215_215insR mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 GACTCCACTTATGACTCCCTA 0.443000 3 65 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26699845 26699845 + Missense_Mutation SNP G G A rs150070091 TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr2:26699845G>A ENST00000272371.2 - 22 2716 c.2590C>T c.(2590-2592)Cgt>Tgt p.R864C OTOF_ENST00000402415.3_Missense_Mutation_p.R174C|OTOF_ENST00000339598.3_Missense_Mutation_p.R117C|OTOF_ENST00000338581.6_Missense_Mutation_p.R117C|OTOF_ENST00000403946.3_Missense_Mutation_p.R864C NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 864 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding p.R864C(1)|p.R117C(1) NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAGGGCACACGGGCATAGGCG 0.612000 6 59 0 0 1 0 0 ACAP1 9744 broad.mit.edu 37 17 7240074 7240074 + Silent SNP C C T TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr17:7240074C>T ENST00000158762.3 + 1 227 c.21C>T c.(19-21)ttC>ttT p.F7F NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 7 BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 AGCTGGATTTCGAGGAGTGTC 0.612000 4 107 0 0 1 0 0 USP20 0 broad.mit.edu 37 9 132641857 132641857 + Missense_Mutation SNP C C T TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr9:132641857C>T ENST00000315480.4 + 24 2676 c.2518C>T c.(2518-2520)Ccc>Tcc p.P840S USP20_ENST00000472108.1_3'UTR|USP20_ENST00000358355.1_Missense_Mutation_p.P840S|USP20_ENST00000372429.3_Missense_Mutation_p.P840S Q9Y2K6 UBP20_HUMAN ubiquitin specific peptidase 20 840 DUSP 2. endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1) 11 Ovarian(14;0.00556) TGCAGAGCCCCCCGGGCCCAT 0.662000 5 81 0 0 1 0 0 C2orf78 388960 broad.mit.edu 37 2 74040747 74040747 + Missense_Mutation SNP C C A TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr2:74040747C>A ENST00000409561.1 + 2 362 c.241C>A c.(241-243)Cag>Aag p.Q81K NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 81 Ser-rich. p.Q81K(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 AGCATGGCTACAGCCATCAGC 0.532000 4 53 1.23904e-05 1.51882e-05 1 1 0 COG1 9382 broad.mit.edu 37 17 71192740 71192740 + Missense_Mutation SNP C C A TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr17:71192740C>A ENST00000299886.4 + 2 490 c.410C>A c.(409-411)gCc>gAc p.A137D NM_018714.2 NP_061184.1 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 137 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 LUSC - Lung squamous cell carcinoma(166;0.197) TCGATGGAAGCCTCTCAGTGT 0.562000 5 190 1.23904e-05 1.51882e-05 1 1 0 TOP2A 7153 broad.mit.edu 37 17 38564345 38564345 + Missense_Mutation SNP G G C TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr17:38564345G>C ENST00000423485.1 - 12 1532 c.1374C>G c.(1372-1374)atC>atG p.I458M NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 458 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) CCTCAGTCAGGATAAGCGTAC 0.393000 4 85 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814115 106814115 + Missense_Mutation SNP C C T TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr8:106814115C>T ENST00000407775.2 + 8 2055 c.1805C>T c.(1804-1806)aCc>aTc p.T602I ZFPM2_ENST00000378472.4_Missense_Mutation_p.T333I|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T470I|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T470I NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 602 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding p.T602I(1) NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) ACTGGCCAAACCTCCATAAAC 0.458000 16 179 0 0 1 0 0 PBX4 80714 broad.mit.edu 37 19 19681601 19681601 + Missense_Mutation SNP C C T TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr19:19681601C>T ENST00000251203.8 - 3 521 c.235G>A c.(235-237)Gcc>Acc p.A79T NM_025245.2 NP_079521.1 Q9BYU1 PBX4_HUMAN pre-B-cell leukemia homeobox 4 79 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A79T(1) large_intestine(1)|lung(4)|ovary(1)|prostate(3) 9 AGGAGCTGGGCGTCAGGGGGA 0.562000 6 83 0 0 1 0 0 HSD17B3 3293 broad.mit.edu 37 9 99015189 99015189 + Missense_Mutation SNP C C T TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr9:99015189C>T ENST00000375263.3 - 4 328 c.281G>A c.(280-282)cGg>cAg p.R94Q HSD17B3_ENST00000375262.2_Missense_Mutation_p.R94Q NM_000197.1 NP_000188.1 P37058 DHB3_HUMAN hydroxysteroid (17-beta) dehydrogenase 3 94 androgen biosynthetic process|male genitalia development endoplasmic reticulum membrane|microsome binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity p.R94Q(1) breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214) NADH(DB00157) CCCTGTAGTCCGCTCTACACG 0.423000 15 288 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70357096 70357096 + Silent SNP C C A TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chrX:70357096C>A ENST00000333646.6 + 39 5810 c.5611C>A c.(5611-5613)Cga>Aga p.R1871R MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374102.1_Silent_p.R1871R|MED12_ENST00000374080.3_Silent_p.R1871R NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1871 Interaction with CTNNB1 and GLI3. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) GCTGCCCACCCGACCAACTTA 0.577000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 3 52 1 1 1 1 0 FZD3 7976 broad.mit.edu 37 8 28385111 28385111 + Silent SNP A A T TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr8:28385111A>T ENST00000240093.3 + 5 1312 c.834A>T c.(832-834)acA>acT p.T278T FZD3_ENST00000537916.1_Silent_p.T278T NM_017412.3 NP_059108.1 Q9NPG1 FZD3_HUMAN frizzled family receptor 3 278 canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding p.T278T(1) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1) 41 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) CCACAGTGACACAAGGATCTC 0.388000 9 206 0 0 1 0 0 CARS 833 broad.mit.edu 37 11 3059393 3059393 + Missense_Mutation SNP C C T rs35902209 TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr11:3059393C>T ENST00000397114.3 - 7 785 c.409G>A c.(409-411)Gat>Aat p.D137N CARS_ENST00000278224.9_Missense_Mutation_p.D147N|CARS_ENST00000380525.4_Missense_Mutation_p.D230N|CARS_ENST00000401769.3_Missense_Mutation_p.D160N|CARS_ENST00000397111.5_Missense_Mutation_p.D147N|CARS-AS1_ENST00000499962.1_RNA P49589 SYCC_HUMAN cysteinyl-tRNA synthetase 147 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding CARS/ALK(5) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1) 31 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) TGCTTTTTATCGGGATCCGTG 0.448000 T ALK ALCL OREG0020690 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 248 0 0 1 0 0 KIF17 57576 broad.mit.edu 37 1 21031226 21031226 + Silent SNP G G A rs142802323 byFrequency TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr1:21031226G>A ENST00000247986.2 - 5 1147 c.837C>T c.(835-837)gaC>gaT p.D279D KIF17_ENST00000375044.1_Silent_p.D179D|KIF17_ENST00000400463.3_Silent_p.D279D Q9P2E2 KIF17_HUMAN kinesin family member 17 279 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) TACAGCGCCCGTCCACCAGCG 0.657000 4 90 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 5 46 0 0 1 0 0 TOP2A 7153 broad.mit.edu 37 17 38557126 38557126 + Missense_Mutation SNP C C A TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr17:38557126C>A ENST00000423485.1 - 21 2798 c.2640G>T c.(2638-2640)atG>atT p.M880I NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 880 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) CTTCTCCATCCATCAAACGCC 0.403000 8 456 0.0477658 0.055003 1 1 0 TOP2A 7153 broad.mit.edu 37 17 38557125 38557125 + Missense_Mutation SNP C C A TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr17:38557125C>A ENST00000423485.1 - 21 2799 c.2641G>T c.(2641-2643)Gat>Tat p.D881Y NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 881 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) TCTTCTCCATCCATCAAACGC 0.403000 9 456 0.307466 0.324547 1 1 0 MT-RNR2 0 broad.mit.edu 37 MT 2197 2197 + RNA SNP G G A TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chrM:2197G>A ENST00000387347.2 + 0 527 NR_039705.1 GCCACCAATTAAGAAAGCGTT 0.398000 3 82 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36597450 36597450 + Missense_Mutation SNP G G A TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr11:36597450G>A ENST00000299440.5 + 2 2708 c.2596G>A c.(2596-2598)Gtg>Atg p.V866M NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 866 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding p.V866M(2) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) CAAAGAGACTGTGGATGCAGT 0.493000 Familial Hemophagocytic Lymphohistiocytosis 8 116 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240255569 240255571 + In_Frame_Del DEL GGC GGC - rs71929261 TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr1:240255569_240255571delGGC ENST00000319653.9 + 1 390_392 c.160_162delGGC c.(160-162)del p.G59del NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 59 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.G197delG(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GGGGGGAgggggcggcggcggcg 0.665 7 4 --- --- --- --- AC009499.1 0 broad.mit.edu 37 2 34146643 34146646 + RNA DEL TATG TATG - rs33985327 by1000genomes TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr2:34146643_34146646delTATG ENST00000366209.2 + 0 134 cacacacacatatgcacacacaca 0.456 3 4 --- --- --- --- RP11-356I2.4 0 broad.mit.edu 37 6 138156122 138156123 + RNA INS - - AGGC rs56232106 by1000genomes TCGA-EJ-5502-01A-01D-1576-08 TCGA-EJ-5502-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b6959f-ca52-42a1-900a-bb2174e31c17 561be685-9ad0-44b4-8c4f-dfbdcfbf68d6 g.chr6:138156122_138156123insAGGC ENST00000606998.1 - 0 1056 NR_049793.1 ggaaggaaggaaggcaggctct 0.490 3 4 --- --- --- ---