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 UGT2B28 54490 broad.mit.edu 37 4 70146384 70146384 + Silent SNP C C T TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr4:70146384C>T ENST00000335568.5 + 1 168 c.166C>T c.(166-168)Ctg>Ttg p.L56L UGT2B28_ENST00000511240.1_Silent_p.L56L NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 56 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) GGTGACTGTACTGGCATCTTC 0.403000 3 87 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 5 175 0 0 1 0 0 DTL 51514 broad.mit.edu 37 1 212220678 212220678 + Missense_Mutation SNP G G A TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr1:212220678G>A ENST00000366991.4 + 5 693 c.379G>A c.(379-381)Gta>Ata p.V127I DTL_ENST00000542077.1_Missense_Mutation_p.V85I|DTL_ENST00000475419.1_3'UTR NM_016448.2 NP_057532.2 Q9NZJ0 DTL_HUMAN denticleless E3 ubiquitin protein ligase homolog (Drosophila) 127 DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) ATTTTGGGACGTAAAAGCTGG 0.388000 5 192 0 0 1 0 0 RPL10A 4736 broad.mit.edu 37 6 35436757 35436757 + Missense_Mutation SNP G G T TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr6:35436757G>T ENST00000322203.6 + 3 141 c.114G>T c.(112-114)ttG>ttT p.L38F RPL10A_ENST00000467020.1_3'UTR NM_007104.4 NP_009035.3 P62906 RL10A_HUMAN ribosomal protein L10a 38 anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit RNA binding|structural constituent of ribosome breast(1)|large_intestine(2)|ovary(1) 4 AGATCAGCTTGAAGAACTATG 0.657000 30 43 6.86731e-36 7.96608e-36 1 1 0 CCP110 9738 broad.mit.edu 37 16 19562584 19562584 + Silent SNP A A G TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr16:19562584A>G ENST00000396212.2 + 15 3403 c.2967A>G c.(2965-2967)tcA>tcG p.S989S CCP110_ENST00000396208.2_Silent_p.S989S|CCP110_ENST00000381396.5_3'UTR NM_014711.4 NP_055526.3 O43303 CP110_HUMAN centriolar coiled coil protein 110kDa 0 centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 GACAACATTCATTAGGATAAA 0.368000 4 183 0 0 1 0 0 SMCR7 0 broad.mit.edu 37 17 18167971 18167971 + Missense_Mutation SNP C C A TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr17:18167971C>A ENST00000323019.4 + 4 1469 c.1258C>A c.(1258-1260)Cac>Aac p.H420N SMCR7_ENST00000395706.2_Missense_Mutation_p.H431N|SMCR7_ENST00000395704.4_3'UTR NM_001144900.1|NM_139162.3 NP_001138372.1|NP_631901.2 Q96C03 SMCR7_HUMAN 420 integral to membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(4) 9 all_neural(463;0.228) CCTGCCCTGCCACTTCAACCC 0.622000 4 64 1 1 1 1 0 PRPF39 55015 broad.mit.edu 37 14 45583710 45583710 + Missense_Mutation SNP G G C TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr14:45583710G>C ENST00000355765.6 + 13 2016 c.1846G>C c.(1846-1848)Gag>Cag p.E616Q NM_017922.3 NP_060392.3 Q86UA1 PRP39_HUMAN pre-mRNA processing factor 39 616 mRNA processing|RNA splicing nucleus binding breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1) 12 AGAAGAACCAGAGGAAAAGAA 0.338000 3 41 0 0 1 0 0 GTPBP4 23560 broad.mit.edu 37 10 1060250 1060250 + Missense_Mutation SNP G G A TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr10:1060250G>A ENST00000360803.4 + 15 1688 c.1606G>A c.(1606-1608)Gat>Aat p.D536N GTPBP4_ENST00000545048.1_Missense_Mutation_p.D489N|GTPBP4_ENST00000538293.1_Missense_Mutation_p.D420N NM_012341.2 NP_036473.2 Q9BZE4 NOG1_HUMAN GTP binding protein 4 536 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding p.D536N(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) CGATAAAGACGATGTGAGTGT 0.443000 51 73 0 0 1 0 0 TUBA8 51807 broad.mit.edu 37 22 18604302 18604302 + Silent SNP C C T TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr22:18604302C>T ENST00000330423.3 + 2 133 c.60C>T c.(58-60)tgC>tgT p.C20C TUBA8_ENST00000316027.6_5'UTR NM_018943.2 NP_061816.1 Q9NY65 TBA8_HUMAN tubulin, alpha 8 20 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 14 GCAATGCCTGCTGGGAGCTCT 0.562000 52 64 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124361673 124361673 + Missense_Mutation SNP G G A TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr8:124361673G>A ENST00000287394.5 - 14 1765 c.1658C>T c.(1657-1659)tCc>tTc p.S553F ATAD2_ENST00000521903.1_Intron NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 553 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TAGCAGGGTGGAAACAATAGA 0.358000 5 122 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059041 146059041 + Silent SNP A A G TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr4:146059041A>G ENST00000454497.2 - 21 2828 c.2691T>C c.(2689-2691)caT>caC p.H897H OTUD4_ENST00000447906.2_Silent_p.H962H|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 961 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GAGTGGGAGGATGAGCCTTTC 0.478000 4 210 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25785870 25785870 + Missense_Mutation SNP T T C TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr4:25785870T>C ENST00000399878.3 - 14 2382 c.2260A>G c.(2260-2262)Atg>Gtg p.M754V SEL1L3_ENST00000264868.5_Missense_Mutation_p.M719V|SEL1L3_ENST00000502949.1_Missense_Mutation_p.M601V NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 754 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 GCTTTCTTCATCAGCTCTAAG 0.438000 17 192 0 0 1 0 0 GATA6 2627 broad.mit.edu 37 18 19780673 19780673 + Missense_Mutation SNP G G C TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr18:19780673G>C ENST00000269216.3 + 7 1952 c.1675G>C c.(1675-1677)Gag>Cag p.E559Q RP11-627G18.1_ENST00000583442.1_RNA|GATA6_ENST00000581694.1_Missense_Mutation_p.E559Q NM_005257.4 NP_005248.2 Q92908 GATA6_HUMAN GATA binding protein 6 559 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 18 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) CGAGAACAGCGAGCTCAAGTA 0.627000 7 136 0 0 1 0 0 RNF39 80352 broad.mit.edu 37 6 30043521 30043521 + Missense_Mutation SNP C C T TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr6:30043521C>T ENST00000244360.6 - 1 143 c.46G>A c.(46-48)Gag>Aag p.E16K RNF39_ENST00000376751.3_Missense_Mutation_p.E16K NM_025236.3 NP_079512.2 Q9H2S5 RNF39_HUMAN ring finger protein 39 16 cytoplasm zinc ion binding GGGATTGCCTCTCTCTTCAAC 0.587000 51 88 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161578 90161578 + RNA SNP G G A rs13337896 by1000genomes TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr16:90161578G>A ENST00000564451.1 + 0 931 TUBB8P7_ENST00000567960.1_RNA p.R105H(3) GCCAAGGGACGCTACACCGAA 0.587000 3 48 0 0 1 0 0 RNF214 257160 broad.mit.edu 37 11 117152830 117152830 + Missense_Mutation SNP G G A TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr11:117152830G>A ENST00000530849.1 + 10 1101 c.1091G>A c.(1090-1092)aGc>aAc p.S364N RNF214_ENST00000531452.1_Missense_Mutation_p.S519N|RNF214_ENST00000300650.4_Missense_Mutation_p.S519N|RNF214_ENST00000524917.1_Intron|RNF214_ENST00000531287.1_Missense_Mutation_p.S364N Q8ND24 RN214_HUMAN ring finger protein 214 519 zinc ion binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) TCCCTTGTCAGCCCCCACGGT 0.637000 6 343 0 0 1 0 0 ATP6V1C2 245973 broad.mit.edu 37 2 10917833 10917833 + Missense_Mutation SNP T T A TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr2:10917833T>A ENST00000272238.4 + 11 1057 c.948T>A c.(946-948)agT>agA p.S316R ATP6V1C2_ENST00000381661.3_Intron NM_001039362.1 NP_001034451.1 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 316 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain p.S316fs*14(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) AGAGAGAGAGTGAGGGCGAGG 0.602000 4 140 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 119915766 119915766 + Silent SNP C C T TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr7:119915766C>T ENST00000331113.4 + 1 2045 c.1080C>T c.(1078-1080)gcC>gcT p.A360A NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 360 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) TCCCTGCAGCCTTCTGGTATA 0.512000 13 135 0 0 1 0 0 ANKRD24 170961 broad.mit.edu 37 19 4219657 4219657 + Nonsense_Mutation SNP C C T TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr19:4219657C>T ENST00000600132.1 + 19 3349 c.3073C>T c.(3073-3075)Cag>Tag p.Q1025* ANKRD24_ENST00000318934.4_Nonsense_Mutation_p.Q1025*|ANKRD24_ENST00000262970.5_Nonsense_Mutation_p.Q1115* NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 1025 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) CACAGCAGAGCAGCAGCTACG 0.657000 49 81 0 0 1 0 0 STT3B 201595 broad.mit.edu 37 3 31641886 31641886 + Missense_Mutation SNP A A G TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr3:31641886A>G ENST00000295770.2 + 5 1021 c.812A>G c.(811-813)aAt>aGt p.N271S STT3B_ENST00000453168.1_3'UTR NM_178862.1 NP_849193.1 Q8TCJ2 STT3B_HUMAN STT3B, subunit of the oligosaccharyltransferase complex (catalytic) 271 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 19 TTTATCATCAATCTTATTCCA 0.299000 5 102 0 0 1 0 0 BEX1 55859 broad.mit.edu 37 X 102317829 102317829 + Missense_Mutation SNP G G A TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chrX:102317829G>A ENST00000372728.3 - 3 613 c.374C>T c.(373-375)cCc>cTc p.P125L NM_018476.3 NP_060946.3 Q9HBH7 BEX1_HUMAN brain expressed, X-linked 1 125 cell differentiation|nervous system development cytoplasm|nucleus endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 CAGGATTCAGGGCATAAGGCA 0.463000 5 110 0 0 1 0 0 UBAC1 10422 broad.mit.edu 37 9 138830109 138830109 + Missense_Mutation SNP G G A TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr9:138830109G>A ENST00000371756.3 - 9 1278 c.1061C>T c.(1060-1062)cCg>cTg p.P354L NM_016172.2 NP_057256.2 Q9BSL1 UBAC1_HUMAN UBA domain containing 1 354 STI1. Golgi apparatus|plasma membrane protein binding NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 25 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06) CTGCACCACCGGGTTATCCAG 0.612000 4 127 0 0 1 0 0 COQ10A 93058 broad.mit.edu 37 12 56664037 56664037 + Missense_Mutation SNP C C T TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr12:56664037C>T ENST00000308197.5 + 5 941 c.680C>T c.(679-681)aCc>aTc p.T227I COQ10A_ENST00000546544.1_Missense_Mutation_p.T210I|COQ10A_ENST00000433805.2_Missense_Mutation_p.T195I NM_144576.3 NP_653177.3 Q96MF6 CQ10A_HUMAN coenzyme Q10 homolog A (S. cerevisiae) 227 mitochondrial inner membrane cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 8 CGGGCAGCCACCAAGTTTGGT 0.527000 7 179 0 0 1 0 0 PDE7A 5150 broad.mit.edu 37 8 66635813 66635813 + Silent SNP G G A TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr8:66635813G>A ENST00000401827.3 - 12 1649 c.1206C>T c.(1204-1206)tgC>tgT p.C402C PDE7A_ENST00000379419.4_Silent_p.C376C|PDE7A_ENST00000396642.3_Silent_p.C402C NM_001242318.2 NP_001229247.1 Q13946 PDE7A_HUMAN phosphodiesterase 7A 402 Catalytic (By similarity). cell fraction|cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1) 10 Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238) Dyphylline(DB00651)|Ketotifen(DB00920) TGTGACGATCGCAAAGTGGAC 0.294000 3 77 0 0 1 0 0 PRRC2B 84726 broad.mit.edu 37 9 134351428 134351428 + Silent SNP C C A TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr9:134351428C>A ENST00000357304.4 + 15 3967 c.3912C>A c.(3910-3912)ccC>ccA p.P1304P PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 1304 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 GAAGGCGCCCCCCACGCCAAG 0.637000 OREG0019561 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 47 57 2.27459e-33 2.53705e-33 1 1 0 ZNF408 79797 broad.mit.edu 37 11 46727180 46727180 + Missense_Mutation SNP G G T TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr11:46727180G>T ENST00000311764.2 + 5 2160 c.1930G>T c.(1930-1932)Gct>Tct p.A644S NM_001184751.1|NM_024741.2 NP_001171680.1|NP_079017.1 Q9H9D4 ZN408_HUMAN zinc finger protein 408 644 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GCCTTCTGCTGCTTCTGAGCC 0.637000 4 96 1 1 1 1 0 GFI1B 8328 broad.mit.edu 37 9 135865217 135865217 + Missense_Mutation SNP G G T TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr9:135865217G>T ENST00000339463.3 + 10 1556 c.737G>T c.(736-738)cGg>cTg p.R246L GFI1B_ENST00000372122.1_Missense_Mutation_p.R246L|GFI1B_ENST00000372124.1_Missense_Mutation_p.R200L|GFI1B_ENST00000534944.1_Missense_Mutation_p.R200L|GFI1B_ENST00000450530.1_Missense_Mutation_p.R246L|GFI1B_ENST00000372123.1_Missense_Mutation_p.R200L Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription repressor 246 Interaction with ARIH2.|Mediates interaction with GATA1. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) TCAGACACGCGGCCCTACCCC 0.612000 3 73 1 1 1 1 0 AC018359.1 0 broad.mit.edu 37 3 34327630 34327632 + RNA DEL CTG CTG - TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr3:34327630_34327632delCTG ENST00000424786.1 + 0 159 CCTTCCACTCctgctgctgctgc 0.438 4 3 --- --- --- --- CTC-419K13.1 0 broad.mit.edu 37 5 73816044 73816046 + RNA DEL AGG AGG - TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr5:73816044_73816046delAGG ENST00000507781.1 - 0 307 GGTGGGGGGCaggaggaggagga 0.473 2 4 --- --- --- --- HOXA6 3203 broad.mit.edu 37 7 27185344 27185344 + Frame_Shift_Del DEL T T - TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr7:27185344delT ENST00000222728.3 - 2 659 c.635delA c.(634-636)agfs p.K212fs HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA3_ENST00000467897.2_Intron NM_024014.3 NP_076919.1 P31267 HXA6_HUMAN homeobox A6 212 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1) 10 CTTGTTTTCCTTTTTCCACTT 0.617 7 299 --- --- --- --- ARHGAP1 392 broad.mit.edu 37 11 46702224 46702224 + Frame_Shift_Del DEL G G - TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr11:46702224delG ENST00000311956.4 - 8 806 c.709delC c.(709-711)tgfs p.L237fs NM_004308.2 NP_004299.1 Q07960 RHG01_HUMAN Rho GTPase activating protein 1 237 Rho protein signal transduction cytosol|intracellular membrane-bounded organelle SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11) GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153) TGGTTGGGCAGGGGGGGCCGT 0.642 7 221 --- --- --- --- RP11-167N24.4 0 broad.mit.edu 37 12 95794449 95794450 + RNA DEL CT CT - TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr12:95794449_95794450delCT ENST00000548194.1 - 0 150 TGCCTTCTCCCTCTCTCTCTCT 0.505 3 5 --- --- --- --- RP11-519G16.3 0 broad.mit.edu 37 15 45755180 45755181 + RNA INS - - T TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr15:45755180_45755181insT ENST00000560077.1 + 0 41 RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA caccaccaccacaccaccacca 0.604 4 5 --- --- --- --- GCSH 2653 broad.mit.edu 37 16 81129777 81129777 + Frame_Shift_Del DEL C C - TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr16:81129777delC ENST00000315467.3 - 1 231 c.107delG c.(106-108)gcfs p.G36fs GCSH_ENST00000566566.1_Frame_Shift_Del_p.G36fs NM_004483.4 NP_004474.2 P23434 GCSH_HUMAN glycine cleavage system protein H (aminomethyl carrier) 36 glycine cleavage complex|mitochondrion aminomethyltransferase activity haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(2) 5 Glycine(DB00145) ACGGACGGCGCCCACCCCCAG 0.781 2 4 --- --- --- --- FOXC2 2303 broad.mit.edu 37 16 86601995 86601995 + Frame_Shift_Del DEL C C - TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr16:86601995delC ENST00000320354.4 + 1 1139 c.1054delC c.(1054-1056)ccfs p.P352fs NM_005251.2 NP_005242.1 Q99958 FOXC2_HUMAN forkhead box C2 (MFH-1, mesenchyme forkhead 1) 352 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 15 GTGCGTCCCGCCCGCCCTGGA 0.771 Late-onset Hereditary Lymphedema 2 4 --- --- --- --- KANK3 256949 broad.mit.edu 37 19 8398950 8398961 + In_Frame_Del DEL TCGCTGTCGCCA TCGCTGTCGCCA - rs111751275 TCGA-EM-A3AQ-01A-11D-A20C-08 TCGA-EM-A3AQ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbacc1ad-c88a-4bcf-a45f-e9c83c762164 e20e9f74-04bd-477e-a3f6-4e2cceb6d41e g.chr19:8398950_8398961delTCGCTGTCGCCA ENST00000330915.3 - 5 1532_1543 c.1467_1478delTGGCGACAGCGA c.(1465-1479)gag>ga p.DGDSE489del KANK3_ENST00000593649.1_In_Frame_Del_p.DGDSE489del NM_198471.2 NP_940873.2 Q6NY19 KANK3_HUMAN KN motif and ankyrin repeat domains 3 489 p.D489_S492delDGDS(2) breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC 0.717 3 5 --- --- --- ---