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_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut CELSR2 1952 broad.mit.edu 37 1 109794178 109794178 + Missense_Mutation SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr1:109794178G>A uc001dxa.3 + 1 1538 c.1477G>A c.(1477-1479)GTA>ATA p.V493I NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 493 Cadherin 3.|Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CTTGGTGACAGTACAGGTCCT 0.567 NA 4 183 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152286334 152286334 + Missense_Mutation SNP C C T TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr1:152286334C>T uc001ezu.1 - 3 1064 c.1028G>A c.(1027-1029)AGA>AAA p.R343K uc001ezv.2_RNA NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 343 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGACTGGCTCTGTCTTCATC 0.562 NA Ichthyosis 10 238 0 0 0 0 CFHR2 3080 broad.mit.edu 37 1 196918742 196918742 + Silent SNP C C T TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr1:196918742C>T uc001gtq.1 + 2 293 c.216C>T c.(214-216)TGC>TGT p.C72C CFHR2_uc001gtr.1_Intron NM_005666 NP_005657 P36980 FHR2_HUMAN H factor (complement)-like 3 precursor 72 Sushi 1. extracellular region skin(2)|ovary(1) 3 GCATAACGTGCGCAGAAGAAG 0.408 NA 4 40 0 0 0 0 CAMK1D 57118 broad.mit.edu 37 10 12867572 12867572 + Missense_Mutation SNP C C G TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr10:12867572C>G uc001ilo.2 + 10 1157 c.922C>G c.(922-924)CAA>GAA p.Q308E CAMK1D_uc001iln.2_Missense_Mutation_p.Q308E NM_153498 NP_705718 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 308 Autoinhibitory domain (By similarity).|Calmodulin-binding (By similarity). calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1)|stomach(1) 2 GBM - Glioblastoma multiforme(1;3.16e-05) GAAATTTCAGCAAGCATTTAA 0.413 NA 5 80 0 0 0 0 PKD2L1 9033 broad.mit.edu 37 10 102056008 102056008 + Silent SNP G G C TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr10:102056008G>C uc001kqx.1 - 7 1610 c.1227C>G c.(1225-1227)CTC>CTG p.L409L PKD2L1_uc009xwm.1_Silent_p.L362L NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 409 Cytoplasmic (Potential). signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding ovary(4) 4 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) GATTCACCTCGAGGGTTCGGA 0.542 NA 3 28 0 0 0 0 SUFU 51684 broad.mit.edu 37 10 104359280 104359280 + Missense_Mutation SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr10:104359280G>A uc001kvy.1 + 8 1147 c.1001G>A c.(1000-1002)GGC>GAC p.G334D SUFU_uc001kvw.1_Missense_Mutation_p.G334D|SUFU_uc001kvx.2_Missense_Mutation_p.G334D|SUFU_uc009xxe.1_RNA|SUFU_uc009xxf.1_RNA NM_016169 NP_057253 Q9UMX1 SUFU_HUMAN suppressor of fused 334 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding central_nervous_system(4)|skin(2)|breast(1) 7 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) CGGCAGAATGGCCTCGCCCAC 0.582 NA D|F|S medulloblastoma medulloblastoma Medulloblastoma_associated_with_Germline_SUFU_Mutation 6 51 0 0 0 0 TRIM8 81603 broad.mit.edu 37 10 104415877 104415877 + Silent SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr10:104415877G>A uc001kvz.2 + 4 1038 c.915G>A c.(913-915)GTG>GTA p.V305V NM_030912 NP_112174 Q9BZR9 TRIM8_HUMAN tripartite motif-containing 8 305 cytoplasm|PML body ligase activity|protein homodimerization activity|zinc ion binding ovary(1) 1 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CCAAGTCTGTGAAAATCCTGA 0.637 NA 5 209 0 0 0 0 PATL1 219988 broad.mit.edu 37 11 59420024 59420024 + Missense_Mutation SNP C C T TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr11:59420024C>T uc001noe.3 - 11 1482 c.1339G>A c.(1339-1341)GAA>AAA p.E447K PATL1_uc009yms.1_Missense_Mutation_p.E417K|PATL1_uc010rkw.1_Missense_Mutation_p.E152K NM_152716 NP_689929 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 447 Region H. cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding ovary(1) 1 TGTATTTCTTCAGCAGCTGAC 0.458 NA 4 62 0 0 0 0 C11orf53 341032 broad.mit.edu 37 11 111154935 111154935 + Missense_Mutation SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr11:111154935G>A uc001plc.2 + 3 289 c.142G>A c.(142-144)GCA>ACA p.A48T NM_198498 NP_940900 Q8IXP5 CK053_HUMAN hypothetical protein LOC341032 48 0 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) TGAGTCCTCCGCAGGGCAGAG 0.582 NA 7 178 0 0 0 0 ESR2 2100 broad.mit.edu 37 14 64746775 64746775 + Silent SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr14:64746775G>A uc001xha.1 - 3 927 c.459C>T c.(457-459)AGC>AGT p.S153S ESR2_uc001xgu.2_Silent_p.S153S|ESR2_uc001xgv.2_Silent_p.S153S|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Silent_p.S153S|ESR2_uc001xgy.1_Silent_p.S153S|ESR2_uc001xgz.1_Silent_p.S153S|ESR2_uc010aqb.1_Intron|ESR2_uc010aqc.1_Silent_p.S153S NM_001437 NP_001428 Q92731 ESR2_HUMAN estrogen receptor beta isoform 1 153 NR C4-type.|Nuclear receptor. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) ATGCGTAATCGCTGCAGACAG 0.473 NA 12 207 0 0 0 0 GALNT1 2589 broad.mit.edu 37 18 33283589 33283589 + Silent SNP C C G TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr18:33283589C>G uc010dmu.2 + 11 1568 c.1515C>G c.(1513-1515)CTC>CTG p.L505L GALNT1_uc002kyz.3_Silent_p.L445L|GALNT1_uc002kzb.2_Silent_p.L505L NM_020474 NP_065207 Q10472 GALT1_HUMAN polypeptide N-acetylgalactosaminyltransferase 1 505 Lumenal (Potential).|Ricin B-type lectin. protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 GCAACCAACTCTGGGAGTATG 0.373 NA 4 50 0 0 0 0 NOVA2 4858 broad.mit.edu 37 19 46444042 46444042 + Silent SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr19:46444042G>A uc002pdv.2 - 4 606 c.558C>T c.(556-558)CCC>CCT p.P186P NM_002516 NP_002507 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 186 KH 2. nucleus RNA binding 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) GCACCTGCTCGGGCTCGCCGC 0.632 NA 3 34 0 0 0 0 ATAD2B 54454 broad.mit.edu 37 2 24046267 24046267 + Silent SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr2:24046267G>A uc002rek.3 - 16 2286 c.1992C>T c.(1990-1992)TCC>TCT p.S664S ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rej.3_5'UTR NM_017552 NP_060022 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 664 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGCACGTTGGGAAGCAGGCA 0.453 NA 3 28 0 0 0 0 C2orf16 84226 broad.mit.edu 37 2 27804893 27804893 + Silent SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr2:27804893G>A uc002rkz.3 + 1 5505 c.5454G>A c.(5452-5454)TTG>TTA p.L1818L ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 1818 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) ACAGTCTCTTGGAGAGGAGCC 0.537 NA 6 104 0 0 0 0 RGPD4 285190 broad.mit.edu 37 2 108488636 108488636 + Missense_Mutation SNP A A T TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr2:108488636A>T uc010ywk.1 + 20 4258 c.4176A>T c.(4174-4176)CAA>CAT p.Q1392H RGPD4_uc002tdu.2_Missense_Mutation_p.Q579H|RGPD4_uc010ywl.1_Intron NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1392 RanBD1 2. intracellular transport binding skin(2) 2 ATAATAAGCAAGTTCGTATAG 0.363 NA 6 246 0 0 0 0 CRYGA 1418 broad.mit.edu 37 2 209025578 209025578 + Missense_Mutation SNP C C T TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr2:209025578C>T uc002vcq.3 - 3 492 c.475G>A c.(475-477)GGT>AGT p.G159S NM_014617 NP_055432 P11844 CRGA_HUMAN crystallin, gamma A 159 Beta/gamma crystallin 'Greek key' 4. visual perception structural constituent of eye lens 0 Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135) GCATCTGCACCCCCCCAGTCG 0.537 NA 3 87 0 0 0 0 MAPK1 5594 broad.mit.edu 37 22 22127164 22127164 + Missense_Mutation SNP C C T TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr22:22127164C>T uc002zvn.2 - 7 1204 c.964G>A c.(964-966)GAG>AAG p.E322K MAPK1_uc002zvo.2_Missense_Mutation_p.E322K|MAPK1_uc010gtk.1_Missense_Mutation_p.E278K NM_002745 NP_002736 P28482 MK01_HUMAN mitogen-activated protein kinase 1 322 activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleoplasm ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 Colorectal(54;0.105) all_lung(157;3.89e-05) READ - Rectum adenocarcinoma(21;0.0689) Arsenic trioxide(DB01169) GCTCTTACCTCGTCACTCGGG 0.478 NA 3 45 0 0 0 0 SLC2A11 66035 broad.mit.edu 37 22 24204324 24204324 + Missense_Mutation SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr22:24204324G>A uc002zyn.3 + 2 154 c.55G>A c.(55-57)GCT>ACT p.A19T SLC2A11_uc002zyl.1_Missense_Mutation_p.A26T|SLC2A11_uc002zym.3_Missense_Mutation_p.A26T|SLC2A11_uc002zyo.3_RNA|SLC2A11_uc011ajc.1_Missense_Mutation_p.A26T|SLC2A11_uc011ajd.1_Missense_Mutation_p.A13T|SLC2A11_uc002zyp.3_Missense_Mutation_p.A22T NM_001024938 NP_001020109 Q9BYW1 GTR11_HUMAN glucose transporter protein 10 isoform c 19 Helical; Name=1; (Potential). integral to membrane|plasma membrane sugar transmembrane transporter activity ovary(1) 1 GACCATCTGCGCTGCCGGCAT 0.557 NA 4 156 0 0 0 0 APOBEC3B 9582 broad.mit.edu 37 22 39387498 39387498 + Silent SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr22:39387498G>A uc003awo.1 + 6 939 c.885G>A c.(883-885)GCG>GCA p.A295A APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Silent_p.A270A|APOBEC3B_uc003awq.1_RNA|APOBEC3D_uc011aod.1_Intron|APOBEC3D_uc011aoe.1_Intron|APOBEC3D_uc011aof.1_Intron NM_004900 NP_004891 Q9UH17 ABC3B_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 295 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding p.A295V(1) ovary(1) 1 Melanoma(58;0.04) AAGTGCGTGCGTTCCTTCAGG 0.577 NA 5 105 0 0 0 0 ENTHD1 150350 broad.mit.edu 37 22 40283601 40283601 + Nonsense_Mutation SNP G G C TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr22:40283601G>C uc003ayg.2 - 2 403 c.152C>G c.(151-153)TCA>TGA p.S51* NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 51 ENTH. ovary(2)|skin(1) 3 Melanoma(58;0.0749) CATAATCTCTGAGAGAGAAAT 0.418 NA 3 126 0 0 0 0 CCR1 1230 broad.mit.edu 37 3 46244880 46244880 + Missense_Mutation SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr3:46244880G>A uc003cph.1 - 2 996 c.925C>T c.(925-927)CGG>TGG p.R309W CCR3_uc003cpg.1_Intron NM_001295 NP_001286 P32246 CCR1_HUMAN chemokine (C-C motif) receptor 1 309 Cytoplasmic (Potential). cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity skin(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) AGGTACTTCCGGAACCTCTCA 0.587 NA 3 25 0 0 0 0 C3orf38 285237 broad.mit.edu 37 3 88199220 88199220 + Silent SNP C C G TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr3:88199220C>G uc003dqw.2 + 2 329 c.18C>G c.(16-18)CTC>CTG p.L6L CGGBP1_uc003dqu.2_5'Flank NM_173824 NP_776185 Q5JPI3 CC038_HUMAN hypothetical protein LOC285237 6 apoptosis 0 Lung NSC(201;0.17) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) TGTCGGGACTCAGCTTTTCAG 0.617 NA 3 24 0 0 0 0 MAP1B 4131 broad.mit.edu 37 5 71492944 71492944 + Silent SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr5:71492944G>A uc003kbw.3 + 5 4003 c.3762G>A c.(3760-3762)TCG>TCA p.S1254S MAP1B_uc010iyw.1_Silent_p.S1271S|MAP1B_uc010iyx.1_Silent_p.S1128S|MAP1B_uc010iyy.1_Silent_p.S1128S NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1254 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TCAGCCCATCGAAGAGCCCGT 0.493 NA 5 44 0 0 0 0 AFF4 27125 broad.mit.edu 37 5 132232314 132232314 + Missense_Mutation SNP C C T TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr5:132232314C>T uc003kyd.2 - 11 2416 c.2008G>A c.(2008-2010)GAG>AAG p.E670K AFF4_uc011cxk.1_Missense_Mutation_p.E348K|AFF4_uc003kye.1_Missense_Mutation_p.E670K NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN ALL1 fused gene from 5q31 670 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|kidney(2)|skin(1) 5 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTATTGCTCTCGGGGTACTTA 0.443 NA 4 55 0 0 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140723793 140723793 + Missense_Mutation SNP C C T TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr5:140723793C>T uc003ljm.1 + 1 193 c.193C>T c.(193-195)CGC>TGC p.R65C PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.R65C NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 65 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGGAGTCCGCATCGTCTC 0.617 NA OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 136 0 0 0 0 ASF1A 25842 broad.mit.edu 37 6 119226832 119226832 + Missense_Mutation SNP C C G TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr6:119226832C>G uc011ebn.1 + 3 578 c.241C>G c.(241-243)CCA>GCA p.P81A NM_014034 NP_054753 Q9Y294 ASF1A_HUMAN ASF1 anti-silencing function 1 homolog A 81 Interaction with histone H3, CHAF1B, and HIRA. chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent chromatin remodeling complex chromatin binding|histone binding 0 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188) TGCACCTAATCCAGGACTCAT 0.393 NA 3 116 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82581315 82581315 + Missense_Mutation SNP C C G TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr7:82581315C>G uc003uhx.2 - 5 9243 c.8954G>C c.(8953-8955)AGA>ACA p.R2985T PCLO_uc003uhv.2_Missense_Mutation_p.R2985T|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2916 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CCCAATCCCTCTATAACCATA 0.423 NA 7 173 0 0 0 0 TAS2R5 54429 broad.mit.edu 37 7 141490605 141490605 + Silent SNP C C T TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr7:141490605C>T uc003vwr.1 + 1 589 c.444C>T c.(442-444)TTC>TTT p.F148F NM_018980 NP_061853 Q9NYW4 TA2R5_HUMAN taste receptor T2R5 148 Helical; Name=4; (Potential). chemosensory behavior|sensory perception of taste taste receptor activity 0 Melanoma(164;0.0171) GCTTAACATTCTATCATCCTC 0.433 NA 4 24 0 0 0 0 CPA6 57094 broad.mit.edu 37 8 68423859 68423859 + Missense_Mutation SNP C C G TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr8:68423859C>G uc003xxq.3 - 4 605 c.349G>C c.(349-351)GAG>CAG p.E117Q CPA6_uc003xxr.3_5'UTR|CPA6_uc003xxs.2_Missense_Mutation_p.E117Q NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 isoform 1 precursor 117 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) CTTCCCTTCTCCAGTGTTTTC 0.388 NA 6 198 0 0 0 0 FAM189A2 9413 broad.mit.edu 37 9 71992331 71992331 + Missense_Mutation SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr9:71992331G>A uc010mon.1 + 5 402 c.298G>A c.(298-300)GTC>ATC p.V100I FAM189A2_uc004ahg.2_Missense_Mutation_p.V100I|FAM189A2_uc010moo.1_5'UTR NM_001127608 NP_001121080 Q15884 F1892_HUMAN chromosome 9 open reading frame 61 precursor 100 Helical; (Potential). integral to membrane 0 GACCACCACCGTCTGCTTGGT 0.532 NA 7 55 0 0 0 0 TRPM6 140803 broad.mit.edu 37 9 77354692 77354692 + Missense_Mutation SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr9:77354692G>A uc004ajl.1 - 34 5672 c.5434C>T c.(5434-5436)CGG>TGG p.R1812W TRPM6_uc004ajk.1_Missense_Mutation_p.R1807W|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.R763W|TRPM6_uc010mpd.1_Missense_Mutation_p.R645W|TRPM6_uc010mpe.1_Missense_Mutation_p.R359W|TRPM6_uc004ajj.1_Missense_Mutation_p.R768W NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1812 Alpha-type protein kinase.|Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 TGCCATGTCCGCACAACCTCA 0.488 NA 5 183 0 0 0 0 KIAA0649 9858 broad.mit.edu 37 9 138379027 138379027 + Missense_Mutation SNP C C T TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr9:138379027C>T uc004cfr.1 + 4 3220 c.2671C>T c.(2671-2673)CGC>TGC p.R891C NM_014811 NP_055626 Q5T8A7 K0649_HUMAN 1A6/DRIM (down-regulated in metastasis) 891 nucleolus protein binding ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06) CGTGTGCACACGCAGCCAGAG 0.697 NA 15 57 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139413085 139413085 + Missense_Mutation SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr9:139413085G>A uc004chz.2 - 6 1057 c.1057C>T c.(1057-1059)CGT>TGT p.R353C NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 353 Extracellular (Potential).|EGF-like 9; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.R353H(1) haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GAGGCCACACGGTCATGGCAG 0.652 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 3 16 0 0 0 0 HERC2 8924 broad.mit.edu 37 15 28518115 28518115 + Frame_Shift_Del DEL C C - TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr15:28518115delC uc001zbj.2 - 8 942 c.836delG c.(835-837)GGAfs p.G279fs HERC2_uc001zbl.1_5'UTR NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 279 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GGGGATGCTTCCTGGCCCTTT 0.592 NA 7 62 --- --- --- --- NA NA NA NA