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 MTF2 22823 broad.mit.edu 37 1 93594899 93594899 + Missense_Mutation SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr1:93594899C>T uc009wdj.2 + 11 1346 c.1054C>T c.(1054-1056)CCT>TCT p.P352S MTF2_uc010oth.1_Missense_Mutation_p.P250S|MTF2_uc009wdk.2_Intron|MTF2_uc001dpi.3_Missense_Mutation_p.P79S|MTF2_uc010oti.1_Missense_Mutation_p.P250S|MTF2_uc001dpj.3_Missense_Mutation_p.P250S|MTF2_uc001dpl.3_Missense_Mutation_p.P250S|MTF2_uc001dpm.3_Missense_Mutation_p.P21S NM_007358 NP_031384 Q9Y483 MTF2_HUMAN metal response element binding transcription 352 nucleus DNA binding|zinc ion binding ovary(2) 2 all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886) TCGTGTTCCTCCTGTGCCACC 0.323000 WNT2B 7482 broad.mit.edu 37 1 113058764 113058764 + Missense_Mutation SNP A A G TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr1:113058764A>G uc001ecb.2 + 3 921 c.406A>G c.(406-408)AGC>GGC p.S136G WNT2B_uc001eca.2_Missense_Mutation_p.S117G|WNT2B_uc009wgg.2_Missense_Mutation_p.S44G NM_024494 NP_078613 Q93097 WNT2B_HUMAN wingless-type MMTV integration site family, 136 chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding|signal transducer activity ovary(2)|breast(2)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTCTCTAGGTAGCCGAGAGGC 0.517000 PTGFRN 5738 broad.mit.edu 37 1 117491914 117491914 + Silent SNP C C T rs140719535 TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr1:117491914C>T uc001egv.1 + 4 1070 c.933C>T c.(931-933)CCC>CCT p.P311P NM_020440 NP_065173 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor negative regulator 311 Ig-like C2-type 3.|Extracellular (Potential). endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding liver(1) 1 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) ACGTCCGGCCCGAGGTGACGT 0.607000 PIAS3 10401 broad.mit.edu 37 1 145584516 145584516 + Silent SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr1:145584516C>T uc001eoc.1 + 12 1574 c.1483C>T c.(1483-1485)CTA>TTA p.L495L NBPF10_uc001emp.3_Intron|PIAS3_uc001eod.1_Silent_p.L164L NM_006099 NP_006090 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 495 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ATCCTCGGTGCTAAGGAGCCC 0.607000 OTUD7B 56957 broad.mit.edu 37 1 149921651 149921651 + Missense_Mutation SNP T T C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr1:149921651T>C uc001etn.2 - 9 1360 c.1004A>G c.(1003-1005)TAT>TGT p.Y335C NM_020205 NP_064590 Q6GQQ9 OTU7B_HUMAN zinc finger protein Cezanne 335 Catalytic.|OTU.|TRAF-binding. negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) CAAAGGCAGATAGATTCCTCC 0.532000 ZNF248 57209 broad.mit.edu 37 10 38121178 38121178 + Missense_Mutation SNP G G T rs137877519 TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr10:38121178G>T uc001izd.1 - 6 1604 c.1105C>A c.(1105-1107)CAG>AAG p.Q369K ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.Q369K NM_021045 NP_066383 Q8NDW4 ZN248_HUMAN zinc finger protein 248 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CTCCGAAGCTGGGTAAGATGT 0.408000 GRID1 2894 broad.mit.edu 37 10 87407072 87407072 + Missense_Mutation SNP T T C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr10:87407072T>C uc001kdl.1 - 13 2181 c.2080A>G c.(2080-2082)AAG>GAG p.K694E GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.K265E|uc001kdm.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 694 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) TTGGTGCCCTTGGCTCGGAAG 0.537000 Multiple Myeloma(13;0.14) LOXL4 84171 broad.mit.edu 37 10 100015439 100015439 + Missense_Mutation SNP G G A rs149982668 TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr10:100015439G>A uc001kpa.1 - 10 1637 c.1486C>T c.(1486-1488)CGC>TGC p.R496C NM_032211 NP_115587 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 precursor 496 SRCR 4. extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity ovary(3)|breast(1)|skin(1) 5 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) CCTGAGCAGCGCACCCCACTC 0.637000 HPSE2 60495 broad.mit.edu 37 10 100481463 100481463 + Missense_Mutation SNP C C A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr10:100481463C>A uc001kpn.1 - 5 967 c.907G>T c.(907-909)GGC>TGC p.G303C HPSE2_uc009xwc.1_Missense_Mutation_p.G293C|HPSE2_uc001kpo.1_Missense_Mutation_p.G235C|HPSE2_uc009xwd.1_Missense_Mutation_p.G181C NM_021828 NP_068600 Q8WWQ2 HPSE2_HUMAN heparanase 2 303 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity ovary(1) 1 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) ATATTAGGGCCATATAAGCTG 0.468000 CNNM2 54805 broad.mit.edu 37 10 104679833 104679833 + Silent SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr10:104679833C>T uc001kwm.2 + 1 1720 c.1596C>T c.(1594-1596)GAC>GAT p.D532D CNNM2_uc001kwn.2_Silent_p.D532D|CNNM2_uc001kwl.2_Silent_p.D532D NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN cyclin M2 isoform 1 532 CBS 2. ion transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CCAAGTTGGACGCTATGCTGG 0.458000 SLK 9748 broad.mit.edu 37 10 105750529 105750529 + Silent SNP T T C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr10:105750529T>C uc001kxo.1 + 2 281 c.247T>C c.(247-249)TTA>CTA p.L83L SLK_uc001kxp.1_Silent_p.L83L NM_014720 NP_055535 Q9H2G2 SLK_HUMAN serine/threonine kinase 2 83 Protein kinase. apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GATTGACATATTAGCATCTTG 0.368000 BTBD16 118663 broad.mit.edu 37 10 124089067 124089067 + Silent SNP T T C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr10:124089067T>C uc001lgc.1 + 11 1235 c.984T>C c.(982-984)CGT>CGC p.R328R BTBD16_uc001lgd.1_Silent_p.R327R NM_144587 NP_653188 Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 328 skin(1) 1 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) TCTGCTTGCGTCTGCACGGCA 0.602000 PPP2R2D 55844 broad.mit.edu 37 10 133761176 133761176 + Missense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr10:133761176G>A uc001lks.2 + 6 1107 c.864G>A c.(862-864)ATG>ATA p.M288I PPP2R2D_uc001lkr.2_Missense_Mutation_p.M94I|PPP2R2D_uc001lkt.2_Missense_Mutation_p.M94I|PPP2R2D_uc009yay.2_Missense_Mutation_p.M156I NM_018461 NP_060931 Q66LE6 2ABD_HUMAN protein phosphatase 2, regulatory subunit B, 321 WD 5. M -> T (in Ref. 1; BAF85754). cell division|exit from mitosis|mitosis|signal transduction cytoplasm|protein phosphatase type 2A complex protein phosphatase type 2A regulator activity skin(1) 1 all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21) ACCTCAACATGGAGAGCAGGC 0.498000 MYOD1 4654 broad.mit.edu 37 11 17741344 17741344 + Silent SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr11:17741344G>A uc001mni.2 + 1 235 c.15G>A c.(13-15)TCG>TCA p.S5S NM_002478 NP_002469 P15172 MYOD1_HUMAN myogenic differentiation 1 5 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development nuclear chromatin|transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity breast(2)|ovary(1) 3 AGCTACTGTCGCCACCGCTCC 0.667000 CD44 960 broad.mit.edu 37 11 35243229 35243229 + Silent SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr11:35243229G>A uc001mvu.2 + 17 2408 c.1974G>A c.(1972-1974)TTG>TTA p.L658L CD44_uc001mvv.2_Silent_p.L615L|CD44_uc001mvw.2_Silent_p.L409L|CD44_uc001mvx.2_Silent_p.L277L|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Silent_p.L345L|CD44_uc010rer.1_Silent_p.L256L|CD44_uc009ykh.2_RNA NM_000610 NP_000601 P16070 CD44_HUMAN CD44 antigen isoform 1 precursor 658 Helical; (Potential). cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity pancreas(1) 1 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) CATCCCTCTTGGCCTTGGCTT 0.428000 C2CD3 26005 broad.mit.edu 37 11 73789208 73789208 + Missense_Mutation SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr11:73789208C>T uc001ouu.2 - 23 4782 c.4555G>A c.(4555-4557)GAC>AAC p.D1519N C2CD3_uc001out.2_RNA NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1519 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) CTGGCCAGGTCCACATAGGCT 0.493000 CACNA1C 775 broad.mit.edu 37 12 2706664 2706664 + Splice_Site SNP T T C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr12:2706664T>C uc009zdu.1 + 22 3226 c.2913_splice c.e22+2 p.K971_splice CACNA1C_uc009zdv.1_Intron|CACNA1C_uc001qkb.2_Splice_Site_p.K951_splice|CACNA1C_uc001qkc.2_Splice_Site_p.K951_splice|CACNA1C_uc001qke.2_Splice_Site_p.K951_splice|CACNA1C_uc001qkf.2_Splice_Site_p.K951_splice|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Splice_Site_p.K971_splice|CACNA1C_uc001qkn.2_Splice_Site_p.K951_splice|CACNA1C_uc001qko.2_Splice_Site_p.K971_splice|CACNA1C_uc001qkp.2_Splice_Site_p.K951_splice|CACNA1C_uc001qkr.2_Splice_Site_p.K951_splice|CACNA1C_uc001qku.2_Splice_Site_p.K951_splice|CACNA1C_uc001qkq.2_Intron|CACNA1C_uc001qks.2_Intron|CACNA1C_uc001qkt.2_Intron|CACNA1C_uc001qka.1_Splice_Site_p.K486_splice|CACNA1C_uc001qki.1_Intron|CACNA1C_uc001qkj.1_Intron|CACNA1C_uc001qkk.1_Intron|CACNA1C_uc001qkm.1_Intron NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) ATCCTTAAGGTAATGCAACCT 0.388000 VWF 7450 broad.mit.edu 37 12 6122735 6122735 + Silent SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr12:6122735G>A uc001qnn.1 - 32 5782 c.5532C>T c.(5530-5532)GGC>GGT p.G1844G VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 1844 VWFA 3; main binding site for collagens type I and III. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CGTTGGAGTCGCCTGCTGGGC 0.522000 SCFD1 23256 broad.mit.edu 37 14 31191756 31191756 + Silent SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr14:31191756C>T uc001wqm.1 + 23 1851 c.1827C>T c.(1825-1827)GAC>GAT p.D609D SCFD1_uc001wqn.1_Silent_p.D542D|SCFD1_uc010tpg.1_Silent_p.D550D|SCFD1_uc010tph.1_Silent_p.D424D|SCFD1_uc010amf.1_Silent_p.D424D|SCFD1_uc010tpi.1_Silent_p.D517D|SCFD1_uc010ame.1_Missense_Mutation_p.T531I NM_016106 NP_057190 Q8WVM8 SCFD1_HUMAN vesicle transport-related protein isoform a 609 post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane syntaxin-5 binding 0 Hepatocellular(127;0.0877) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119) GBM - Glioblastoma multiforme(265;0.0181) ATCTTGTTGACTACATAAAGG 0.328000 C15orf55 256646 broad.mit.edu 37 15 34647250 34647250 + Missense_Mutation SNP T T G TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr15:34647250T>G uc001zif.2 + 6 1462 c.1307T>G c.(1306-1308)CTG>CGG p.L436R C15orf55_uc010ucc.1_Missense_Mutation_p.L464R|C15orf55_uc010ucd.1_Missense_Mutation_p.L454R NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 436 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) CCTCAATTTCTGGCAGATCTG 0.478000 T BRD3|BRD4 lethal midline carcinoma ADAMTSL3 57188 broad.mit.edu 37 15 84566718 84566718 + Nonsense_Mutation SNP G G T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr15:84566718G>T uc002bjz.3 + 14 1800 c.1576G>T c.(1576-1578)GAA>TAA p.E526* ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.E526*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.E526* NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 526 TSP type-1 3. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) ACACATCAAAGAAGAATGTGT 0.453000 SALL1 6299 broad.mit.edu 37 16 51175484 51175484 + Missense_Mutation SNP C C T rs140165636 TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr16:51175484C>T uc010vgs.1 - 2 680 c.649G>A c.(649-651)GGC>AGC p.G217S SALL1_uc010vgr.1_Missense_Mutation_p.G120S|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 217 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GAGGCCCCGCCGCACCTCGCT 0.592000 SF3B3 23450 broad.mit.edu 37 16 70602310 70602310 + Missense_Mutation SNP A A T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr16:70602310A>T uc002ezf.2 + 22 3288 c.3077A>T c.(3076-3078)GAT>GTT p.D1026V NM_012426 NP_036558 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3 1026 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(1) 1 Ovarian(137;0.0694) ATCTTTGCTGATGATACCTAC 0.468000 TM4SF5 9032 broad.mit.edu 37 17 4675218 4675218 + Missense_Mutation SNP A A T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr17:4675218A>T uc002fyw.1 + 1 32 c.1A>T c.(1-3)ATG>TTG p.M1L NM_003963 NP_003954 O14894 T4S5_HUMAN transmembrane 4 superfamily member 5 1 Cytoplasmic (Potential). integral to plasma membrane ovary(1) 1 ACACCTCACCATGTGTACGGG 0.567000 TP53 7157 broad.mit.edu 37 17 7578208 7578208 + Missense_Mutation SNP T T C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr17:7578208T>C uc002gim.2 - 6 835 c.641A>G c.(640-642)CAT>CGT p.H214R TP53_uc002gig.1_Missense_Mutation_p.H214R|TP53_uc002gih.2_Missense_Mutation_p.H214R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H82R|TP53_uc010cng.1_Missense_Mutation_p.H82R|TP53_uc002gii.1_Missense_Mutation_p.H82R|TP53_uc010cnh.1_Missense_Mutation_p.H214R|TP53_uc010cni.1_Missense_Mutation_p.H214R|TP53_uc002gij.2_Missense_Mutation_p.H214R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H121R|TP53_uc002gio.2_Missense_Mutation_p.H82R|TP53_uc010vug.1_Missense_Mutation_p.H175R NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 214 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). H -> Y (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H214R(45)|p.0?(7)|p.H214Y(4)|p.H214Q(4)|p.H214D(3)|p.H214fs*5(2)|p.H214fs*33(2)|p.D208fs*1(1)|p.K164_P219del(1)|p.H214H(1)|p.H214fs*7(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CACCACACTATGTCGAAAAGT 0.542000 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) UBTF 7343 broad.mit.edu 37 17 42290195 42290195 + Missense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr17:42290195G>A uc002igb.2 - 6 719 c.652C>T c.(652-654)CGG>TGG p.R218W UBTF_uc002igc.2_Missense_Mutation_p.R218W|UBTF_uc010czs.2_Missense_Mutation_p.R218W|UBTF_uc002igd.2_Missense_Mutation_p.R218W|UBTF_uc010czt.2_Missense_Mutation_p.R218W|UBTF_uc002ige.2_Missense_Mutation_p.R218W NM_014233 NP_055048 P17480 UBF1_HUMAN upstream binding transcription factor, RNA 218 HMG box 2. positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding 0 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) ACATCTGGCCGCACTTTGAGA 0.637000 SIGLEC7 27036 broad.mit.edu 37 19 51645712 51645712 + Missense_Mutation SNP C C T rs140841032 TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr19:51645712C>T uc002pvv.1 + 1 155 c.86C>T c.(85-87)ACG>ATG p.T29M SIGLEC7_uc002pvw.1_Missense_Mutation_p.T29M|SIGLEC7_uc010eoq.1_RNA|SIGLEC7_uc010eor.1_Missense_Mutation_p.T29M NM_014385 NP_055200 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 isoform 1 29 Extracellular (Potential). cell adhesion integral to plasma membrane receptor activity|sugar binding large_intestine(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) TACTCGCTGACGATGCAGAGT 0.493000 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48848413 48848413 + Silent SNP A A T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr2:48848413A>T uc010yol.1 + 4 2390 c.2343A>T c.(2341-2343)ACA>ACT p.T781T STON1-GTF2A1L_uc002rwp.1_Silent_p.T781T|GTF2A1L_uc002rws.1_Silent_p.T77T|GTF2A1L_uc010yom.1_Silent_p.T43T|GTF2A1L_uc002rwt.2_Silent_p.T77T NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 781 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TGCACCAAACATTGCAATCGT 0.388000 TSGA10 80705 broad.mit.edu 37 2 99725896 99725896 + Nonsense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr2:99725896G>A uc002szg.3 - 4 635 c.7C>T c.(7-9)CGA>TGA p.R3* TSGA10_uc002szh.3_Nonsense_Mutation_p.R3*|TSGA10_uc002szi.3_Nonsense_Mutation_p.R3*|TSGA10_uc010fin.1_Nonsense_Mutation_p.R3*|TSGA10_uc010yvn.1_Nonsense_Mutation_p.R3* NM_182911 NP_878915 Q9BZW7 TSG10_HUMAN testis specific, 10 3 spermatogenesis cytoplasm|nuclear membrane ovary(1)|central_nervous_system(1) 2 GACCTACTTCGCATCATCTTT 0.393000 IL18RAP 8807 broad.mit.edu 37 2 103059744 103059744 + Missense_Mutation SNP C C A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr2:103059744C>A uc002tbx.2 + 8 1365 c.881C>A c.(880-882)TCT>TAT p.S294Y IL18RAP_uc010fiz.2_Missense_Mutation_p.S152Y NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 294 Ig-like C2-type 2.|Extracellular (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 ATCAAAGATTCTGACCTAGAG 0.403000 POTEE 445582 broad.mit.edu 37 2 131976213 131976213 + Missense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr2:131976213G>A uc002tsn.2 + 1 290 c.238G>A c.(238-240)GTG>ATG p.V80M PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Translation_Start_Site|POTEE_uc002tsl.2_Translation_Start_Site NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 80 ATP binding 0 CAAGAGCAACGTGGGCGCTTC 0.602000 LRP1B 53353 broad.mit.edu 37 2 141707814 141707814 + Silent SNP A A G TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr2:141707814A>G uc002tvj.1 - 20 4098 c.3126T>C c.(3124-3126)TGT>TGC p.C1042C LRP1B_uc010fnl.1_Silent_p.C224C NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1042 Extracellular (Potential).|LDL-receptor class A 7. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 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) CTTCTTTAGTACAATTGATCT 0.363000 TSP Lung(27;0.18) SCN9A 6335 broad.mit.edu 37 2 167133781 167133781 + Silent SNP T T A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr2:167133781T>A uc010fpl.2 - 16 2894 c.2553A>T c.(2551-2553)TCA>TCT p.S851S uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 862 II. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) GAGCCCCTACTGAGTTACCAA 0.413000 ITGA4 3676 broad.mit.edu 37 2 182360534 182360534 + Silent SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr2:182360534C>T uc002unu.2 + 14 2173 c.1410C>T c.(1408-1410)GAC>GAT p.D470D ITGA4_uc010frj.1_5'Flank NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 470 FG-GAP 7.|Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TAATTGTTGACGCTTCTTTAA 0.358000 PMS1 5378 broad.mit.edu 37 2 190660534 190660534 + Missense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr2:190660534G>A uc002urh.3 + 3 701 c.172G>A c.(172-174)GGG>AGG p.G58R PMS1_uc010zga.1_Missense_Mutation_p.G58R|PMS1_uc010zgb.1_Intron|PMS1_uc002urk.3_Missense_Mutation_p.G58R|PMS1_uc002uri.3_Missense_Mutation_p.G58R|PMS1_uc010zgc.1_5'UTR|PMS1_uc010zgd.1_Intron|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.G58R|PMS1_uc010frz.2_Missense_Mutation_p.G58R|PMS1_uc010zfz.1_Missense_Mutation_p.G58R NM_000534 NP_000525 P54277 PMS1_HUMAN postmeiotic segregation 1 isoform a 58 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) GCGAGATAACGGGGAGGGTAT 0.328000 Mis|N colorectal|endometrial|ovarian Direct_reversal_of_damage|MMR PYGB 5834 broad.mit.edu 37 20 25252030 25252030 + Missense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr20:25252030G>A uc002wup.2 + 4 545 c.436G>A c.(436-438)GAC>AAC p.D146N NM_002862 NP_002853 P11216 PYGB_HUMAN brain glycogen phosphorylase 146 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 Pyridoxal Phosphate(DB00114) GTGTTTCCTTGACTCAATGGC 0.502000 L3MBTL 26013 broad.mit.edu 37 20 42169439 42169439 + Missense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr20:42169439G>A uc010zwh.1 + 21 2358 c.2312G>A c.(2311-2313)CGC>CAC p.R771H L3MBTL_uc002xkl.2_Missense_Mutation_p.R703H|L3MBTL_uc002xkm.2_Missense_Mutation_p.R703H|L3MBTL_uc010ggl.2_Missense_Mutation_p.R708H|L3MBTL_uc002xkn.1_Missense_Mutation_p.R462H|L3MBTL_uc002xko.2_Missense_Mutation_p.R355H|L3MBTL_uc002xkp.2_Missense_Mutation_p.R91H|SGK2_uc002xkq.1_5'UTR NM_015478 NP_056293 Q9Y468 LMBL1_HUMAN l(3)mbt-like isoform I 703 SAM. chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GACCAAGCACGCCTCTTCAAA 0.562000 ADARB1 104 broad.mit.edu 37 21 46596225 46596225 + Silent SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr21:46596225C>T uc002zgy.2 + 4 1044 c.609C>T c.(607-609)AGC>AGT p.S203S ADARB1_uc002zgr.2_Silent_p.S203S|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Silent_p.S203S|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Silent_p.S203S|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA|ADARB1_uc011afo.1_Silent_p.S252S NM_015833 NP_056648 P78563 RED1_HUMAN RNA-specific adenosine deaminase B1 isoform 2 203 adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding skin(1) 1 Colorectal(79;0.115) TCAGTTCCAGCGGGGACCTCA 0.597000 SBF1 6305 broad.mit.edu 37 22 50893258 50893258 + Silent SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr22:50893258C>T uc003blh.2 - 35 4992 c.4797G>A c.(4795-4797)GCG>GCA p.A1599A SBF1_uc003ble.2_Silent_p.A75A|SBF1_uc003blf.2_Silent_p.A75A|SBF1_uc011arx.1_Silent_p.A1237A NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 1573 Myotubularin phosphatase. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CGTCCTCGGGCGCATACATGT 0.652000 CD96 10225 broad.mit.edu 37 3 111264125 111264125 + Silent SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr3:111264125G>A uc003dxw.2 + 2 464 c.294G>A c.(292-294)GGG>GGA p.G98G CD96_uc003dxv.2_Silent_p.G98G|CD96_uc003dxx.2_Silent_p.G98G|CD96_uc010hpy.1_Silent_p.G98G NM_198196 NP_937839 P40200 TACT_HUMAN CD96 antigen isoform 1 precursor 98 Extracellular (Potential).|Ig-like V-type 1. cell adhesion|immune response|regulation of immune response integral to plasma membrane skin(2)|central_nervous_system(1) 3 CTGAGAATGGGTCAAAATGGA 0.448000 Opitz_Trigonocephaly_syndrome CCDC80 151887 broad.mit.edu 37 3 112356885 112356885 + Missense_Mutation SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr3:112356885C>T uc003dzf.2 - 2 2086 c.1868G>A c.(1867-1869)CGA>CAA p.R623Q CCDC80_uc011bhv.1_Missense_Mutation_p.R623Q|CCDC80_uc003dzg.2_Missense_Mutation_p.R623Q|CCDC80_uc003dzh.1_Missense_Mutation_p.R623Q NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 623 ovary(2) 2 AAGGAGTCTTCGTTTGCCTTC 0.463000 PLS1 5357 broad.mit.edu 37 3 142416830 142416830 + Missense_Mutation SNP A A G TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr3:142416830A>G uc010huv.2 + 12 1451 c.1292A>G c.(1291-1293)TAT>TGT p.Y431C PLS1_uc003euz.2_Missense_Mutation_p.Y431C|PLS1_uc003eva.2_Missense_Mutation_p.Y431C NM_001145319 NP_001138791 Q14651 PLSI_HUMAN plastin 1 431 CH 3.|Actin-binding 2. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(1) 1 TTTCAGCTCTATGAGATGATC 0.433000 PIGZ 80235 broad.mit.edu 37 3 196675340 196675340 + Missense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr3:196675340G>A uc003fxh.2 - 3 575 c.428C>T c.(427-429)GCC>GTC p.A143V NM_025163 NP_079439 Q86VD9 PIGZ_HUMAN phosphatidylinositol glycan anchor biosynthesis, 143 Helical; (Potential). GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity ovary(3) 3 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) GTGGTACACGGCCCCGTCCAG 0.672000 CSN1S1 1446 broad.mit.edu 37 4 70810618 70810618 + Nonsense_Mutation SNP C C G TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr4:70810618C>G uc003hep.1 + 15 502 c.453C>G c.(451-453)TAC>TAG p.Y151* CSN1S1_uc003heq.1_Nonsense_Mutation_p.Y142*|CSN1S1_uc003her.1_Nonsense_Mutation_p.Y143* NM_001890 NP_001881 P47710 CASA1_HUMAN casein alpha s1 isoform 1 151 extracellular region protein binding|transporter activity 0 CTGTTTGGTACTATCCACAAA 0.413000 TIGD2 166815 broad.mit.edu 37 4 90034294 90034294 + Missense_Mutation SNP A A G TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr4:90034294A>G uc003hsk.2 + 1 327 c.169A>G c.(169-171)AAC>GAC p.N57D FAM13A_uc003hsh.1_5'Flank NM_145715 NP_663761 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 57 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.86e-05) AAACTATGCAAACAGTTCAGA 0.373000 UFSP2 55325 broad.mit.edu 37 4 186329110 186329110 + Silent SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr4:186329110C>T uc003ixo.2 - 9 1218 c.1101G>A c.(1099-1101)ACG>ACA p.T367T UFSP2_uc003ixn.2_Silent_p.T242T|UFSP2_uc003ixq.2_Silent_p.T257T|UFSP2_uc003ixp.2_RNA NM_018359 NP_060829 Q9NUQ7 UFSP2_HUMAN UFM1-specific peptidase 2 367 endoplasmic reticulum|nucleus small conjugating protein-specific protease activity 0 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166) GGATTTTTGACGTTATACCGA 0.373000 GPR98 84059 broad.mit.edu 37 5 90074406 90074406 + Nonsense_Mutation SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr5:90074406C>T uc003kju.2 + 63 12925 c.12829C>T c.(12829-12831)CGA>TGA p.R4277* GPR98_uc003kjt.2_Nonsense_Mutation_p.R1983*|GPR98_uc003kjw.2_5'Flank NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 4277 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGAGCAACTTCGAGTGTCAGA 0.413000 ETF1 2107 broad.mit.edu 37 5 137844018 137844018 + Silent SNP T T C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr5:137844018T>C uc003ldc.3 - 11 1455 c.1290A>G c.(1288-1290)GAA>GAG p.E430E ETF1_uc011cyv.1_Silent_p.E416E|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_Silent_p.E397E NM_004730 NP_004721 P62495 ERF1_HUMAN eukaryotic translation termination factor 1 430 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination cytoplasm protein binding|ribosome binding|translation release factor activity, codon specific ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GGTCAAAAAATTCATCGTCTC 0.488000 CDYL 9425 broad.mit.edu 37 6 4892004 4892004 + Missense_Mutation SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr6:4892004C>T uc003mwi.2 + 4 375 c.244C>T c.(244-246)CGG>TGG p.R82W CDYL_uc003mwj.2_Missense_Mutation_p.R28W|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_5'UTR|CDYL_uc011dhy.1_5'UTR NM_001143971 NP_001137443 Q9Y232 CDYL1_HUMAN chromodomain protein, Y chromosome-like isoform 82 Chromo. regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity 0 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) GTATTTGGTTCGGTGGAAAGG 0.408000 HIST1H2AD 3013 broad.mit.edu 37 6 26199399 26199399 + Nonsense_Mutation SNP G G A rs140533379 TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr6:26199399G>A uc003ngw.2 - 1 73 c.73C>T c.(73-75)CAG>TAG p.Q25* HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank NM_021065 NP_066409 P20671 H2A1D_HUMAN histone cluster 1, H2ad 25 nucleosome assembly nucleosome|nucleus DNA binding 0 all_hematologic(11;0.196) ACAGGGAACTGGAGTCCGGCC 0.612000 TRERF1 55809 broad.mit.edu 37 6 42236873 42236873 + Silent SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr6:42236873G>A uc003osd.2 - 5 1019 c.456C>T c.(454-456)AAC>AAT p.N152N TRERF1_uc011duq.1_Silent_p.N152N|TRERF1_uc003osb.2_5'UTR|TRERF1_uc003osc.2_5'UTR|TRERF1_uc003ose.2_Silent_p.N152N NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 152 cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GCAGGTTTTGGTTGGCAAACA 0.557000 TPBG 7162 broad.mit.edu 37 6 83075655 83075655 + Missense_Mutation SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr6:83075655C>T uc003pjn.3 + 3 1913 c.977C>T c.(976-978)CCG>CTG p.P326L TPBG_uc010kbj.2_Missense_Mutation_p.P326L|TPBG_uc003pjo.2_Missense_Mutation_p.P326L NM_006670 NP_006661 Q13641 TPBG_HUMAN trophoblast glycoprotein precursor 326 Extracellular (Potential).|LRRCT. cell adhesion integral to plasma membrane central_nervous_system(1) 1 all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897) BRCA - Breast invasive adenocarcinoma(397;0.107) TGTGCATATCCGGAAAAAATG 0.537000 NPY 4852 broad.mit.edu 37 7 24325011 24325011 + Missense_Mutation SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr7:24325011C>T uc003sww.1 + 2 238 c.152C>T c.(151-153)GCG>GTG p.A51V NM_000905 NP_000896 P01303 NPY_HUMAN neuropeptide Y precursor 51 adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission cell|extracellular space calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity 0 TACTACTCGGCGCTGCGACAC 0.632000 BUD31 8896 broad.mit.edu 37 7 99015162 99015162 + Missense_Mutation SNP G G C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr7:99015162G>C uc003uqf.2 + 5 529 c.328G>C c.(328-330)GAC>CAC p.D110H BUD31_uc011kiu.1_Missense_Mutation_p.D110H|BUD31_uc011kiv.1_Missense_Mutation_p.D110H|BUD31_uc003uqg.3_Missense_Mutation_p.D110H NM_003910 NP_003901 P41223 BUD31_HUMAN G10 protein 110 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) TCAGACACGGGACACCAACTT 0.453000 RBM28 55131 broad.mit.edu 37 7 127978360 127978360 + Missense_Mutation SNP T T C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr7:127978360T>C uc003vmp.2 - 5 600 c.485A>G c.(484-486)AAA>AGA p.K162R RBM28_uc003vmo.2_5'Flank|RBM28_uc011koj.1_Intron|RBM28_uc011kok.1_Missense_Mutation_p.K109R NM_018077 NP_060547 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 162 RRM 2. mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding ovary(2) 2 TAGGAGGTTTTTGAACTGAAC 0.418000 RBM33 155435 broad.mit.edu 37 7 155534608 155534608 + Silent SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr7:155534608G>A uc010lqk.1 + 13 2513 c.2145G>A c.(2143-2145)CCG>CCA p.P715P RBM33_uc011kvv.1_Silent_p.P524P NM_053043 NP_444271 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 715 nucleotide binding|RNA binding ovary(1) 1 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) CCATAGCGCCGTCACACGTGA 0.562000 NEIL2 252969 broad.mit.edu 37 8 11643642 11643642 + Nonsense_Mutation SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr8:11643642C>T uc003wug.2 + 5 1534 c.859C>T c.(859-861)CAG>TAG p.Q287* NEIL2_uc003wue.2_Nonsense_Mutation_p.Q287*|NEIL2_uc003wuf.2_Nonsense_Mutation_p.Q226*|NEIL2_uc011kxd.1_Nonsense_Mutation_p.Q171* NM_145043 NP_659480 Q969S2 NEIL2_HUMAN nei like 2 isoform a 287 FPG-type. base-excision repair|nucleotide-excision repair nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding 0 all_epithelial(15;0.103) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.166) ACAGGTCTACCAGAAAGAACA 0.622000 BER_DNA_glycosylases FDFT1 2222 broad.mit.edu 37 8 11687890 11687890 + Silent SNP C C G TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr8:11687890C>G uc003wui.2 + 6 992 c.840C>G c.(838-840)CTC>CTG p.L280L FDFT1_uc003wuh.2_Silent_p.L216L|FDFT1_uc010lsa.1_Silent_p.L195L|FDFT1_uc011kxe.1_Silent_p.L216L|FDFT1_uc011kxf.1_Silent_p.L237L|FDFT1_uc011kxg.1_Silent_p.L113L|FDFT1_uc003wuj.2_Silent_p.L273L|FDFT1_uc010lsb.2_Silent_p.L216L|FDFT1_uc011kxh.1_Silent_p.L216L|FDFT1_uc011kxi.1_Intron|FDFT1_uc011kxj.1_Silent_p.L216L|FDFT1_uc003wuk.2_Silent_p.L339L|FDFT1_uc011kxk.1_Silent_p.L195L NM_004462 NP_004453 P37268 FDFT_HUMAN squalene synthase 280 cholesterol biosynthetic process|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity 0 all_epithelial(15;0.234) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.18) TTTCGAGACTCAGAAACCAGA 0.512000 BRF2 55290 broad.mit.edu 37 8 37702081 37702081 + Missense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr8:37702081G>A uc003xkk.2 - 4 1297 c.1187C>T c.(1186-1188)CCT>CTT p.P396L NM_018310 NP_060780 Q9HAW0 BRF2_HUMAN RNA polymerase III transcription initiation 396 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding 0 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) AACTTCCTGAGGGGTACGCAA 0.527000 ZNF704 619279 broad.mit.edu 37 8 81553643 81553643 + Silent SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr8:81553643G>A uc003yby.1 - 9 1429 c.1197C>T c.(1195-1197)ACC>ACT p.T399T NM_001033723 NP_001028895 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 399 intracellular zinc ion binding 0 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) AGCGGCAGGCGGTACACCACA 0.612000 DCAF13 25879 broad.mit.edu 37 8 104452417 104452417 + Missense_Mutation SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr8:104452417C>T uc003yln.2 + 9 1737 c.1460C>T c.(1459-1461)TCT>TTT p.S487F DCAF13_uc003ylm.1_Missense_Mutation_p.S220F|DCAF13_uc003ylo.2_Missense_Mutation_p.S198F NM_015420 NP_056235 Q9NV06 DCA13_HUMAN WD repeats and SOF1 domain containing 335 WD 7. rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex breast(1) 1 AAATGGACTTCTGACAGCAAG 0.348000 IFNB1 3456 broad.mit.edu 37 9 21077680 21077680 + Silent SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr9:21077680C>T uc003zok.2 - 1 264 c.189G>A c.(187-189)GAG>GAA p.E63E NM_002176 NP_002167 P01574 IFNB_HUMAN interferon, beta 1, fibroblast precursor 63 activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity ovary(1)|breast(1)|kidney(1) 3 GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11) Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068) GCTTAATCTCCTCAGGGATGT 0.453000 TEK 7010 broad.mit.edu 37 9 27158095 27158095 + Nonsense_Mutation SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr9:27158095C>T uc003zqi.3 + 2 761 c.319C>T c.(319-321)CGA>TGA p.R107* TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Nonsense_Mutation_p.R107*|TEK_uc011lno.1_Nonsense_Mutation_p.R107*|TEK_uc011lnp.1_Intron|TEK_uc003zqj.1_Nonsense_Mutation_p.R84* NM_000459 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial precursor 107 Extracellular (Potential).|Ig-like C2-type 1. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1) 12 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) AGGGCGAGTTCGAGGAGAGGC 0.463000 DCAF12 25853 broad.mit.edu 37 9 34089583 34089583 + Missense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr9:34089583G>A uc003ztt.2 - 8 1372 c.1030C>T c.(1030-1032)CGG>TGG p.R344W NM_015397 NP_056212 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 344 WD 4. centrosome|CUL4 RING ubiquitin ligase complex 0 CTCACTGACCGGATTCCTGAA 0.488000 FCN1 2219 broad.mit.edu 37 9 137805455 137805455 + Silent SNP G G A rs144127766 TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr9:137805455G>A uc004cfi.2 - 5 404 c.312C>T c.(310-312)GAC>GAT p.D104D NM_002003 NP_001994 O00602 FCN1_HUMAN ficolin 1 precursor 104 opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding large_intestine(1)|ovary(1) 2 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) ACTGCCCAGCGTCTCCTGTGT 0.592000 MAGEC1 9947 broad.mit.edu 37 X 140996328 140996328 + Missense_Mutation SNP A A C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chrX:140996328A>C uc004fbt.2 + 4 3424 c.3138A>C c.(3136-3138)AAA>AAC p.K1046N MAGEC1_uc010nsl.1_Missense_Mutation_p.K113N NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1046 MAGE. protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCACTAAAGTTTGGGTGC 0.552000 HNSCC(15;0.026) PLXNA3 55558 broad.mit.edu 37 X 153698807 153698807 + Missense_Mutation SNP A A C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chrX:153698807A>C uc004flm.2 + 30 5182 c.5009A>C c.(5008-5010)GAT>GCT p.D1670A NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 1670 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AAGTTCGTGGATGACCTCTTT 0.607000 PRRX1 5396 broad.mit.edu 37 1 170688997 170688997 + Frame_Shift_Del DEL A A - TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr1:170688996_170688996GA>G uc001ghf.3 + 1 418 c.371_371GA>G c.(370-372)cgafs p.R124fs PRRX1_uc001ghe.3_Frame_Shift_Del_p.R124fs NM_022716 NP_073207 P54821 PRRX1_HUMAN Homo sapiens paired related homeobox 1 (PRRX1), transcript variant pmx-1b, mRNA. 124 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.R124L(2) large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GCTTTTGTGCGAGAAGACCTT 0.547 NFKBIZ 64332 broad.mit.edu 37 3 101572358 101572358 + Frame_Shift_Del DEL C C - TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr3:101572357_101572357TC>T uc003dvp.3 + 4 1102 c.987_987TC>T c.(985-987)ggtfs p.G329fs NFKBIZ_uc003dvo.3_Frame_Shift_Del_p.G229fs|NFKBIZ_uc010hpo.3_Frame_Shift_Del_p.G229fs|NFKBIZ_uc003dvq.3_Intron NM_031419 NP_001005474 Q9BYH8 IKBZ_HUMAN Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta (NFKBIZ), transcript variant 1, mRNA. 329 Required for transcriptional activity (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 TCTTTGATGGTCCAGAATCAC 0.473 DOK5 55816 broad.mit.edu 37 20 53171572 53171574 + In_Frame_Del DEL ATC ATC - TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b g.chr20:53171571_53171573TATC>T uc002xwy.3 + 1 386_388 c.166_168TATC>T c.(166-168)tat>T p.Y56del NM_018431 NP_060901 Q9P104 DOK5_HUMAN Homo sapiens docking protein 5 (DOK5), mRNA. 56 PH. insulin receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1) 19 Colorectal(105;0.202) TTTCAGGTGTTATCATAAGGTAA 0.374