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 GABRB3 2562 broad.mit.edu 37 15 26806094 26806094 + Missense_Mutation SNP C C G TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr15:26806094C>G uc001zbb.3 - 8 1336 c.1233G>C c.(1231-1233)aaG>aaC p.K411N GABRB3_uc021sgg.1_Missense_Mutation_p.K284N|GABRB3_uc021sgh.1_Missense_Mutation_p.K270N|GABRB3_uc001zaz.3_Missense_Mutation_p.K355N|GABRB3_uc001zba.3_Missense_Mutation_p.K355N NM_001191320 NP_001178249 P28472 GBRB3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA. 355 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TGCTTTCGCTCTTTGAACGGT 0.473000 3 178 0 0 1 0 0 TJP1 7082 broad.mit.edu 37 15 30001016 30001016 + Missense_Mutation SNP T T C TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr15:30001016T>C uc010azl.3 - 23 4570 c.4561A>G c.(4561-4563)Aca>Gca p.T1521A TJP1_uc001zcq.3_Missense_Mutation_p.T1457A|TJP1_uc001zcr.3_Missense_Mutation_p.T1533A|TJP1_uc001zcs.3_Missense_Mutation_p.T1453A NM_003257 NP_003248 Q07157 ZO1_HUMAN Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA. 1533 cell-cell junction assembly|cellular component disassembly involved in apoptosis Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) GCAGAACTTGTATATGGTTTT 0.403000 5 305 0 0 1 0 0 C1orf210 149466 broad.mit.edu 37 1 43748745 43748745 + Missense_Mutation SNP G G A TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr1:43748745G>A uc001cit.4 - 2 287 c.53C>T c.(52-54)tCt>tTt p.S18F C1orf210_uc021omn.1_Missense_Mutation_p.S18F NM_182517 NP_872323 Q8IVY1 CA210_HUMAN Homo sapiens chromosome 1 open reading frame 210 (C1orf210), transcript variant 1, mRNA. 18 integral to membrane breast(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGCCACAGCAGACGCTGTGGG 0.627000 5 21 0 0 1 0 0 SIRPD 128646 broad.mit.edu 37 20 1532407 1532407 + Nonsense_Mutation SNP G G T TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr20:1532407G>T uc002wfi.3 - 1 395 c.351C>A c.(349-351)tgC>tgA p.C117* NM_178460 NP_848555 Q9H106 SIRPD_HUMAN Homo sapiens signal-regulatory protein delta (SIRPD), mRNA. 117 Ig-like V-type. extracellular region breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1) 15 TGAACTTCACGCAGTAATAGG 0.493000 3 98 0 0 1 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39913841 39913841 + Missense_Mutation SNP G G A TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr19:39913841G>A uc010xuz.2 + 17 2472 c.2147G>A c.(2146-2148)aGc>aAc p.S716N PLEKHG2_uc010xuy.2_Missense_Mutation_p.S657N|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.S494N NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA. 716 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TTTTCTGGGAGCAATCCTGGG 0.592000 3 88 0 0 1 0 0 CNGA1 1259 broad.mit.edu 37 4 47939187 47939187 + Missense_Mutation SNP A A G TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr4:47939187A>G uc003gxu.3 - 9 1672 c.1531T>C c.(1531-1533)Tgg>Cgg p.W511R BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.W442R NM_001142564 NP_000078 P29973 CNGA1_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA. 442 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 TTGTTGGTCCACAGGTAGTCA 0.328000 5 122 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25497865 25497865 + Missense_Mutation SNP G G A TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr2:25497865G>A uc002rgc.3 - 5 841 c.584C>T c.(583-585)cCc>cTc p.P195L DNMT3A_uc002rgd.3_Missense_Mutation_p.P195L|DNMT3A_uc010eyi.3_Non-coding_Transcript NM_022552 NP_783328 Q9Y6K1 DNM3A_HUMAN Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA. 195 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GATGTAGTAGGGGTCCCCCGC 0.701000 """Mis, F, N, S""" AML 8 16 0 0 1 0 0 CNTLN 54875 broad.mit.edu 37 9 17236415 17236415 + Silent SNP G G A TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr9:17236415G>A uc003zmz.2 + 4 704 c.678G>A c.(676-678)aaG>aaA p.K226K CNTLN_uc003zmx.4_Silent_p.K226K|CNTLN_uc003zmy.3_Silent_p.K226K|CNTLN_uc010mio.3_5'UTR NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA. 226 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) AGGACACTAAGGAGTGTGTAC 0.368000 11 45 0 0 1 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42434347 42434347 + Missense_Mutation SNP C C A TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr15:42434347C>A uc001zoz.3 - 19 2477 c.2385G>T c.(2383-2385)agG>agT p.R795S PLA2G4F_uc010bcq.3_Missense_Mutation_p.R92S|PLA2G4F_uc001zoy.3_Missense_Mutation_p.R427S|PLA2G4F_uc001zpa.3_Missense_Mutation_p.R546S|PLA2G4F_uc010bcr.3_Missense_Mutation_p.R546S|PLA2G4F_uc010bcs.3_Missense_Mutation_p.R582S NM_213600 NP_998765 Q68DD2 PA24F_HUMAN Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA. 795 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GGGTGTCTGGCCTGTTGATGA 0.567000 3 64 0 0 1 0 0 SLC26A8 116369 broad.mit.edu 37 6 35923195 35923195 + Missense_Mutation SNP C C G TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr6:35923195C>G uc003olm.3 - 16 2077 c.1966G>C c.(1966-1968)Gca>Cca p.A656P SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.A238P|SLC26A8_uc003oll.3_Missense_Mutation_p.A551P|SLC26A8_uc003oln.3_Missense_Mutation_p.A656P NM_001193476 NP_443193 Q96RN1 S26A8_HUMAN Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA. 656 STAS. cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 TCTTCGGATGCAGTTTGGCTT 0.443000 49 75 0 0 1 0 0 CASC3 22794 broad.mit.edu 37 17 38319961 38319961 + Missense_Mutation SNP G G A rs139973585 TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr17:38319961G>A uc010cwt.1 + 6 1308 c.1013G>A c.(1012-1014)cGg>cAg p.R338Q CASC3_uc010cws.1_Missense_Mutation_p.R338Q|CASC3_uc002hue.3_Missense_Mutation_p.R338Q NM_007359 NP_031385 O15234 CASC3_HUMAN Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA. 338 RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm RNA binding|identical protein binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 CATGGTGGCCGGTCTGGTGAG 0.552000 4 228 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214820611 214820611 + Silent SNP G G A TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr1:214820611G>A uc001hkm.3 + 12 7872 c.7698G>A c.(7696-7698)gaG>gaA p.E2566E NM_016343 NP_057427 P49454 CENPF_HUMAN Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA. 2662 2 X 177 AA tandem repeats.|Sufficient for centromere localization.|Sufficient for self-association. DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TGGAATTGGAGCAGAAGATCC 0.433000 3 76 0 0 1 0 0 C15orf44 81556 broad.mit.edu 37 15 65877142 65877142 + Missense_Mutation SNP T T C TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr15:65877142T>C uc010uix.2 - 9 1701 c.1313A>G c.(1312-1314)aAt>aGt p.N438S C15orf44_uc002apd.3_Missense_Mutation_p.N402S|C15orf44_uc010uja.2_Missense_Mutation_p.N384S|C15orf44_uc010ujb.2_Missense_Mutation_p.N345S|C15orf44_uc002ape.4_Missense_Mutation_p.N402S|C15orf44_uc010uiy.2_Missense_Mutation_p.N323S|C15orf44_uc010uiz.2_Missense_Mutation_p.N366S Q96SY0 CO044_HUMAN Homo sapiens chromosome 15 open reading frame 44 (C15orf44), transcript variant 3, non-coding RNA. 402 breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2) 12 GACAGTCACATTCTGGGCATA 0.468000 14 26 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457580 110457580 + Missense_Mutation SNP G G A TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr8:110457580G>A uc003yne.3 + 37 5586 c.5482G>A c.(5482-5484)Gtc>Atc p.V1828I NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 1828 IPT/TIG 10. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AAACCTGACTGTCAGCAGCCC 0.493000 HNSCC(38;0.096) 4 76 0 0 1 0 0 NPFFR2 10886 broad.mit.edu 37 4 73013276 73013276 + Missense_Mutation SNP A A G TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr4:73013276A>G uc003hgg.2 + 3 1414 c.1316A>G c.(1315-1317)aAc>aGc p.N439S NPFFR2_uc010iig.2_Missense_Mutation_p.N221S|NPFFR2_uc003hgi.2_Missense_Mutation_p.N340S|NPFFR2_uc003hgh.2_Missense_Mutation_p.N337S NM_004885 NP_444264 Q9Y5X5 NPFF2_HUMAN Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA. 439 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) GGTTTCTTCAACGAGAATTTC 0.453000 24 65 0 0 1 0 0 HEY2 23493 broad.mit.edu 37 6 126080274 126080274 + Missense_Mutation SNP G G A TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr6:126080274G>A uc003qad.3 + 4 531 c.340G>A c.(340-342)Gca>Aca p.A114T HEY2_uc011ebr.2_Missense_Mutation_p.A68T NM_012259 NP_036391 Q9UBP5 HEY2_HUMAN Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA. 114 Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity). Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex RNA polymerase II activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding p.A114P(2)|p.A114T(2) breast(1)|large_intestine(7)|lung(5)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) CTACTTTGACGCACACGCTCT 0.527000 3 74 0 0 1 0 0 C3orf19 51244 broad.mit.edu 37 3 14706561 14706561 + Missense_Mutation SNP G G A TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr3:14706561G>A uc003byw.3 + 5 603 c.512G>A c.(511-513)cGt>cAt p.R171H C3orf19_uc010hei.1_Missense_Mutation_p.R171H|C3orf19_uc010hej.3_Missense_Mutation_p.R76H NM_016474 NP_057558 Q6PII3 CC019_HUMAN Homo sapiens chromosome 3 open reading frame 19 (C3orf19), mRNA. 171 endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 14 TCTTTGGGGCGTTCCCGGCGC 0.473000 4 173 0 0 1 0 0 GTPBP4 23560 broad.mit.edu 37 10 1046805 1046805 + Missense_Mutation SNP C C A TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr10:1046805C>A uc001ift.3 + 6 914 c.843C>A c.(841-843)aaC>aaA p.N281K GTPBP4_uc010qac.1_Missense_Mutation_p.N72K|GTPBP4_uc010qad.2_Missense_Mutation_p.N165K|GTPBP4_uc010qae.2_Missense_Mutation_p.N234K NM_012341 NP_036473 Q9BZE4 NOG1_HUMAN Homo sapiens GTP binding protein 4 (GTPBP4), mRNA. 281 negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|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.I280I(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) TCTTCATCAACAAGGTGTGTG 0.463000 4 202 0 0 1 0 0 ZNF678 339500 broad.mit.edu 37 1 227843206 227843206 + Missense_Mutation SNP C C T TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr1:227843206C>T uc021pjy.1 + 3 1596 c.1420C>T c.(1420-1422)Cac>Tac p.H474Y ZNF678_uc001hqw.2_Missense_Mutation_p.H419Y|ZNF678_uc009xet.2_Intron|ZNF678_uc009xeu.2_Intron NM_178549 NP_848644 F5GXA7 F5GXA7_HUMAN Homo sapiens zinc finger protein 678 (ZNF678), transcript variant 1, mRNA. 474 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) ACAGTGCTCTCACCTAACTAG 0.368000 3 57 0 0 1 0 0 DPP8 54878 broad.mit.edu 37 15 65739246 65739246 + Silent SNP A A C TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr15:65739246A>C uc002aov.3 - 19 4251 c.2673T>G c.(2671-2673)cgT>cgG p.R891R DPP8_uc002aow.3_Silent_p.R891R|DPP8_uc010uiv.2_Non-coding_Transcript|DPP8_uc021soz.1_Silent_p.R875R|DPP8_uc002aox.3_Silent_p.R875R|DPP8_uc002aoy.3_Silent_p.R840R|DPP8_uc002aoz.3_Silent_p.R775R|DPP8_uc010bhj.3_Silent_p.R891R|DPP8_uc010bhi.3_Silent_p.R194R NM_130434 NP_569118 Q6V1X1 DPP8_HUMAN Homo sapiens dipeptidyl-peptidase 8 (DPP8), transcript variant 1, mRNA. 891 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GAGCAGCAATACGTGATCCAA 0.388000 53 61 0 0 1 0 0 SLC26A10 65012 broad.mit.edu 37 12 58016597 58016597 + Silent SNP G G T TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr12:58016597G>T uc001spe.3 + 5 1130 c.819G>T c.(817-819)ctG>ctT p.L273L SLC26A10_uc001spf.3_Non-coding_Transcript|SLC26A10_uc009zpz.2_5'Flank NM_133489 NP_597996 Q8NG04 S2610_HUMAN Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA. 273 integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) TCCCCAACCTGGCTGAGCTGC 0.567000 6 155 0 0 1 0 0 TMEM88B 643965 broad.mit.edu 37 1 1361531 1361533 + In_Frame_Del DEL GGA GGA - TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr1:1361531_1361533delGGA uc010nyp.2 + 0 24_26 c.24_26delGGA c.(22-27)acggag>acg p.E12del NM_001146685 NP_001140157 A6NKF7 TM88B_HUMAN Homo sapiens transmembrane protein 88B (TMEM88B), mRNA. 12 Poly-Glu. integral to membrane GGAGGGAGACGGAGGAGGAGGAG 0.700 2 4 --- --- --- --- EVX2 344191 broad.mit.edu 37 2 176944986 176944988 + In_Frame_Del DEL CCG CCG - TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr2:176944986_176944988delCCG uc010zeu.2 - 2 1464_1466 c.1278_1280delCGG c.(1276-1281)ggcggg>ggg p.426_427GG>G NM_001080458 NP_001073927 Q03828 EVX2_HUMAN Homo sapiens even-skipped homeobox 2 (EVX2), mRNA. 426 Poly-Gly. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) Cccggcgcccccgccgccgccgc 0.783 2 4 --- --- --- --- UBE2W 55284 broad.mit.edu 37 8 74717937 74717937 + Frame_Shift_Del DEL A A - TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr8:74717937delA uc003xzu.3 - 5 477 c.424delT c.(424-426)tatfs p.Y142fs UBE2W_uc003xzt.2_Frame_Shift_Del_p.Y131fs|UBE2W_uc003xzv.3_Frame_Shift_Del_p.Y131fs|UBE2W_uc003xzw.3_Non-coding_Transcript NM_001001481 NP_001001481 Q96B02 UBE2W_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2W (putative) (UBE2W), transcript variant 1, mRNA. 131 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) GTTCGCACATAAAAAGAATTA 0.299 2 4 --- --- --- --- HSF1 3297 broad.mit.edu 37 8 145515453 145515454 + Frame_Shift_Ins INS - - GG TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr8:145515453_145515454insGG uc003zbt.4 + 0 184_185 c.14_15insGG c.(13-15)gtgfs p.V5fs BOP1_uc003zbr.1_5'Flank|HSF1_uc003zbu.4_Non-coding_Transcript NM_005526 NP_005517 Q00613 HSF1_HUMAN Homo sapiens heat shock transcription factor 1 (HSF1), mRNA. 5 cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) GATCTGCCCGTgggccccggcg 0.728 2 4 --- --- --- --- NUMBL 9253 broad.mit.edu 37 19 41179384 41179384 + Frame_Shift_Del DEL C C - TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr19:41179384delC uc002oon.3 - 7 1069 c.901delG c.(901-903)gttfs p.V301fs NUMBL_uc010xvq.2_Frame_Shift_Del_p.V260fs|NUMBL_uc010xvr.2_Frame_Shift_Del_p.V260fs|NUMBL_uc002ooo.3_Frame_Shift_Del_p.V300fs NM_004756 NP_004747 Q9Y6R0 NUMBL_HUMAN Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA. 301 cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process cytoplasm protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2) 16 Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105) CCCTGGCGAACCAGCTGCTCC 0.657 2 4 --- --- --- ---