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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut PCSK5 5125 broad.mit.edu 37 9 78796501 78796501 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr9:78796501G>A uc004akc.2 + 15 2729 c.2191G>A c.(2191-2193)Gat>Aat p.D731N PCSK5_uc004ajz.3_Missense_Mutation_p.D731N|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_Silent_p.R5R NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 731 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GTCATATCAGGATACCAGTAA 0.433000 63 5 0 0 1.23904e-05 0 0 MAST1 22983 broad.mit.edu 37 19 12962960 12962960 + Missense_Mutation SNP T C C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:12962960T>C uc002mvm.3 + 8 1036 c.908T>C c.(907-909)cTg>cCg p.L303P MAST1_uc021upp.1_Missense_Mutation_p.L127P NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA. 303 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 TACCACCTGCTGGAGGCGGCC 0.642000 52 9 0 0 2.17888e-05 0 0 NAV1 89796 broad.mit.edu 37 1 201780773 201780773 + Silent SNP C A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:201780773C>A uc021phi.1 + 24 5187 c.4840C>A c.(4840-4842)Cgg>Agg p.R1614R NAV1_uc001gwu.3_Silent_p.R1611R|NAV1_uc001gwx.3_Silent_p.R1220R NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA. 1614 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 CCAGATAGACCGGGAAACAGG 0.517000 187 9 0.000274275 0.00716887 0.000274275 1 0 PCDHGC5 56097 broad.mit.edu 37 5 140725065 140725065 + Missense_Mutation SNP T C C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:140725065T>C uc003ljm.2 + 0 1465 c.1465T>C c.(1465-1467)Tat>Cat p.Y489H PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.Y489H NM_018916 NP_061739 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA. 491 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCATCACTTATGCATTGAC 0.552000 96 5 0 0 1.23904e-05 0 0 SMAD5 4090 broad.mit.edu 37 5 135489586 135489586 + Missense_Mutation SNP A G G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:135489586A>G uc003lbj.1 + 3 581 c.137A>G c.(136-138)aAg>aGg p.K46R SMAD5_uc003lbk.1_Missense_Mutation_p.K46R|SMAD5_uc003lbl.1_Missense_Mutation_p.K46R NM_001001419 NP_001001419 Q99717 SMAD5_HUMAN Homo sapiens SMAD family member 5 (SMAD5), transcript variant 2, mRNA. 46 MH1.|Poly-Lys. BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytosol|integral to membrane|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding central_nervous_system(1)|large_intestine(4)|lung(3) 8 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AAAAAGAAAAAGGGTGCCATG 0.473000 79 4 0 0 0.00024832 0 0 APOB 338 broad.mit.edu 37 2 21227313 21227313 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:21227313C>T uc002red.3 - 27 12043 c.11915G>A c.(11914-11916)gGa>gAa p.G3972E NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 3972 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTGCGCTTTTCCTTCCCATTC 0.463000 360 44 0 0 0.000147903 0 0 IFIH1 64135 broad.mit.edu 37 2 163174366 163174367 + Splice_Site DNP CG AT AT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:163174366_163174367CG>AT uc002uce.3 - 1 675 c.453_splice c.e1+1 p.R151_splice IFIH1_uc002ucf.3_Splice_Site_p.R151_splice NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA. 151 CARD 2. detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding p.R151R(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 GACACCTACCCGGTTTCTGTCT 0.490000 483 12 0 0 6.4e-05 0 0 TUBB2A 7280 broad.mit.edu 37 6 3154832 3154832 + Silent SNP G T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:3154832G>T uc003mvc.3 - 3 689 c.603C>A c.(601-603)tcC>tcA p.S201S TUBB2A_uc003mvb.3_Silent_p.S194S NM_001069 NP_001060 Q13885 TBB2A_HUMAN Homo sapiens tubulin, beta 2A class IIa (TUBB2A), mRNA. 201 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity endometrium(2)|large_intestine(4)|lung(2)|skin(1) 9 Ovarian(93;0.0386) all_hematologic(90;0.0895) CGTTATCAATGGAGTAGGTTT 0.592000 108 7 0.000274275 0.00716887 0.000274275 1 0 RXFP2 122042 broad.mit.edu 37 13 32367120 32367120 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr13:32367120G>A uc001utt.3 + 15 1752 c.1681G>A c.(1681-1683)Gat>Aat p.D561N RXFP2_uc010aba.3_Missense_Mutation_p.D537N NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA. 561 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TTGGAATAAGGATTATTTTGG 0.368000 56 9 0 0 2.17888e-05 0 0 SLC2A3 6515 broad.mit.edu 37 12 8074018 8074019 + Missense_Mutation DNP GG AA AA TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:8074018_8074019GG>AA uc001qtr.3 - 9 1743_1744 c.1481_1482CC>TT c.(1480-1482)acc>aTT p.T494I NM_006931 NP_008862 P11169 GTR3_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA. 494 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) CTTAGACATTGGTGGTGGTCTC 0.569000 262 27 0 0 6.4e-05 0 0 MUC16 94025 broad.mit.edu 37 19 9088055 9088056 + Nonsense_Mutation DNP CG AT AT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:9088055_9088056CG>AT uc002mkp.3 - 0 3963_3964 c.3759_3760CG>AT c.(3757-3762)ctcgga>ctATga p.G1254* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1254 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCGTGTGCTCCGAGGTGGATGC 0.510000 383 7 0 0 6.4e-05 0 0 TRPC5 7224 broad.mit.edu 37 X 111078209 111078209 + Silent SNP G T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chrX:111078209G>T uc004epl.1 - 6 2755 c.1836C>A c.(1834-1836)tcC>tcA p.S612S TRPC5_uc004epm.1_Silent_p.S612S NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA. 612 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GCACTACCAGGGAGATGACAT 0.418000 165 8 1.58986e-06 4.28403e-05 3.86212e-05 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144864154 144864155 + Missense_Mutation DNP GG TT TT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:144864154_144864155GG>TT uc021ouh.1 - 35 6242_6243 c.5940_5941CC>AA c.(5938-5943)tccctc>tcAAtc p.L1981I NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.L1981I|PDE4DIP_uc001elx.4_Missense_Mutation_p.L1875I|PDE4DIP_uc001elv.4_Missense_Mutation_p.L988I|PDE4DIP_uc001ema.3_Missense_Mutation_p.L168I NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 1981 cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding p.S1980S(3) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TTTTCCTGGAGGGAAAGACGTT 0.470000 T PDGFRB MPD 509 15 0 0 6.4e-05 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140719052 140719052 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:140719052C>T uc003ljk.2 + 0 699 c.514C>T c.(514-516)Ctc>Ttc p.L172F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.L172F NM_018915 NP_061738 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA. 172 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAGTACGCACTCAACCCAAA 0.537000 77 9 0 0 2.17888e-05 0 0 HCLS1 3059 broad.mit.edu 37 3 121366201 121366201 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:121366201C>T uc003eeh.4 - 3 378 c.253G>A c.(253-255)Ggt>Agt p.G85S HCLS1_uc011bjj.2_Missense_Mutation_p.G85S|HCLS1_uc011bjk.1_Non-coding_Transcript|HCLS1_uc011bjl.1_Missense_Mutation_p.G85S NM_005335 NP_005326 P14317 HCLS1_HUMAN Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA. 85 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) CCAAACCGACCTCCATAGCCA 0.483000 158 14 0 0 7.07596e-05 0 0 abParts 0 broad.mit.edu 37 14 106967281 106967281 + RNA SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr14:106967281G>A uc021ser.1 - 263 c.10219C>T Parts of antibodies, mostly variable regions. TGCCTTGCAGGAAACCTTCAC 0.562000 58 12 0 0 6.40141e-05 0 0 OR4A15 81328 broad.mit.edu 37 11 55135894 55135894 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:55135894G>A uc010rif.2 + 0 535 c.535G>A c.(535-537)Gga>Aga p.G179R NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA. 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 GGCCTGGATTGGAGGCTTTCT 0.433000 171 35 0 0 0.000319135 0 0 NEBL 10529 broad.mit.edu 37 10 21124516 21124516 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:21124516C>T uc001iqi.3 - 13 1772 c.1375G>A c.(1375-1377)Ggg>Agg p.G459R NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN Homo sapiens nebulette (NEBL), transcript variant 1, mRNA. 459 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 ATTCCTTTCCCTTTAATTATT 0.448000 197 19 0 0 0.000175454 0 0 COL4A4 1286 broad.mit.edu 37 2 228012300 228012300 + Splice_Site SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:228012300C>T uc021vxr.1 - 1 1 c.-100_splice c.e1-1 COL4A4_uc021vxs.1_Splice_Site NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) AAAGTCTGTTCCTGTTAGATA 0.328000 25 5 0 0 1.23904e-05 0 0 PKDREJ 10343 broad.mit.edu 37 22 46653866 46653866 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr22:46653866G>A uc003bhh.3 - 0 5354 c.5354C>T c.(5353-5355)tCg>tTg p.S1785L NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA. 1785 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GATTTTAGACGAGCTTTCAGG 0.423000 174 53 0 0 0.000147903 0 0 RGS7 6000 broad.mit.edu 37 1 241099926 241099926 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:241099926C>T uc001hyv.2 - 4 637 c.307G>A c.(307-309)Gat>Aat p.D103N RGS7_uc010pyh.2_Missense_Mutation_p.D77N|RGS7_uc010pyj.1_Missense_Mutation_p.D19N|RGS7_uc001hyu.2_Missense_Mutation_p.D103N|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Missense_Mutation_p.D103N NM_002924 NP_002915 P49802 RGS7_HUMAN Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA. 103 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GTGCCATCATCCTTGAGTGTG 0.398000 142 26 0 0 0.000184323 0 0 VPRBP 9730 broad.mit.edu 37 3 51475831 51475831 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:51475831C>T uc003dbe.2 - 7 781 c.596G>A c.(595-597)cGg>cAg p.R199Q VPRBP_uc021wys.1_Missense_Mutation_p.R198Q|VPRBP_uc003dbg.2_Missense_Mutation_p.R199Q NM_014703 NP_055518 Q9Y4B6 VPRBP_HUMAN Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA. 199 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) AGAGAGCTTCCGTGGACTGGG 0.507000 157 20 0 0 0.000295444 0 0 ELN 2006 broad.mit.edu 37 7 73474766 73474766 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:73474766G>A uc003tzw.3 + 24 1791 c.1700G>A c.(1699-1701)gGa>gAa p.G567E ELN_uc003tzn.3_Missense_Mutation_p.G561E|ELN_uc003tzy.3_Missense_Mutation_p.G537E|ELN_uc003tzz.3_Missense_Mutation_p.G480E|ELN_uc003tzo.3_Missense_Mutation_p.G513E|ELN_uc003tzp.3_Missense_Mutation_p.G472E|ELN_uc003tzq.3_Missense_Mutation_p.G425E|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Missense_Mutation_p.G542E|ELN_uc003tzt.3_Missense_Mutation_p.G566E|ELN_uc003tzu.3_Missense_Mutation_p.G547E|ELN_uc003tzv.3_Missense_Mutation_p.G532E|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.G551E|ELN_uc011kff.2_Missense_Mutation_p.G561E NM_000501 NP_001075224 P15502 ELN_HUMAN Homo sapiens elastin (ELN), transcript variant 1, mRNA. 590 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) GGCGTCCCTGGACTTGGAGTT 0.632000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 69 17 0 0 9.7654e-05 0 0 FRY 10129 broad.mit.edu 37 13 32798442 32798442 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr13:32798442G>A uc001utx.3 + 36 5332 c.4836G>A c.(4834-4836)ccG>ccA p.P1612P FRY_uc010tdw.2_Non-coding_Transcript NM_023037 NP_075463 Q5TBA9 FRY_HUMAN Homo sapiens furry homolog (Drosophila) (FRY), mRNA. 1612 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) AGCCCTTACCGATGCCTTGTA 0.572000 54 9 0 0 0.000274275 0 0 SLC22A10 387775 broad.mit.edu 37 11 63072214 63072215 + Missense_Mutation DNP CC AA AA TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:63072214_63072215CC>AA uc009yor.3 + 8 1659_1660 c.1451_1452CC>AA c.(1450-1452)ccc>cAA p.P484Q SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_3'UTR NM_001039752 NP_001034841 Q63ZE4 S22AA_HUMAN Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA. 484 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GCACTGGCTCCCCTCTTGATGA 0.401000 98 7 0 0 6.4e-05 0 0 PEG3 5178 broad.mit.edu 37 19 57325750 57325750 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:57325750G>A uc002qnu.2 - 6 4411 c.4060C>T c.(4060-4062)Cat>Tat p.H1354Y PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.H1325Y|PEG3_uc002qnv.2_Missense_Mutation_p.H1354Y|PEG3_uc002qnw.2_Missense_Mutation_p.H1230Y|PEG3_uc002qnx.2_Missense_Mutation_p.H1228Y|PEG3_uc010etr.2_Missense_Mutation_p.H1354Y NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 1354 Glu-rich. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.H1354Q(1) NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCTTCCAGATGAAGCTCCTTA 0.453000 34 8 0 0 2.17888e-05 0 0 SLC26A10 65012 broad.mit.edu 37 12 58017649 58017649 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:58017649C>T uc001spe.3 + 7 1395 c.1084C>T c.(1084-1086)Ctg>Ttg p.L362L SLC26A10_uc001spf.3_Non-coding_Transcript|SLC26A10_uc009zpz.2_5'Flank NM_133489 NP_597996 Q8NG04 S2610_HUMAN Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA. 362 integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) CACAGTGGTCCTGTCGGTGCT 0.567000 119 10 0 0 6.40141e-05 0 0 NOTCH4 4855 broad.mit.edu 37 6 32163237 32163237 + Missense_Mutation SNP G T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:32163237G>T uc003obb.3 - 29 6128 c.5989C>A c.(5989-5991)Caa>Aaa p.Q1997K GPSM3_uc003oay.4_5'Flank|GPSM3_uc003oaz.3_5'UTR|NOTCH4_uc011dpt.2_3'UTR|NOTCH4_uc003oba.3_Missense_Mutation_p.Q657K|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 1997 Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 TCTCCTCCTTGGTTTATGGGC 0.502000 265 9 6.40141e-05 0.00170732 6.40141e-05 1 0 SULT1A1 6817 broad.mit.edu 37 16 28620051 28620051 + Silent SNP G T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:28620051G>T uc002dqn.3 - 4 991 c.399C>A c.(397-399)ctC>ctA p.L133L NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Silent_p.L42L|SULT1A1_uc002dqi.3_Silent_p.L42L|SULT1A1_uc002dqk.3_Silent_p.L42L|SULT1A1_uc002dql.3_Silent_p.L42L|SULT1A1_uc002dqm.3_Intron|SULT1A1_uc002dqp.3_Silent_p.L42L NM_177534 NP_803878 P50225 ST1A1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA. 42 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2) 16 AGGTGCTGATGAGCAGGTCAT 0.657000 54 7 1.06961e-07 2.88961e-06 0.000157383 1 0 TTN 7273 broad.mit.edu 37 2 179437307 179437307 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:179437307C>T uc021vsy.1 - 274 66073 c.65848G>A c.(65848-65850)Gat>Aat p.D21950N MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D15645N|TTN_uc021vta.1_Missense_Mutation_p.D15578N|TTN_uc021vtb.1_Missense_Mutation_p.D15453N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 22877 Fibronectin type-III 59. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCTGGTGTATCGAGAACTCTA 0.418000 73 12 0 0 6.40141e-05 0 0 ZSWIM3 140831 broad.mit.edu 37 20 44486602 44486602 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:44486602C>T uc002xqd.3 + 0 383 c.138C>T c.(136-138)tcC>tcT p.S46S ACOT8_uc002xqa.2_5'Flank|ACOT8_uc010zxe.2_5'Flank|ACOT8_uc002xqc.2_5'Flank|ACOT8_uc010zxf.2_5'Flank|ZSWIM3_uc010zxg.2_5'UTR NM_080752 NP_542790 Q96MP5 ZSWM3_HUMAN Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA. 46 zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 35 Myeloproliferative disorder(115;0.0122) ATGGCACCTCCATCCGCGAAG 0.647000 60 9 0 0 0.000274275 0 0 RYR2 6262 broad.mit.edu 37 1 237666774 237666774 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:237666774C>T uc001hyl.1 + 21 2702 c.2582C>T c.(2581-2583)gCc>gTc p.A861V NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 861 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACGCAAGCTGCCTTCACACCC 0.502000 81 11 0 0 0.00010058 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110033812 110033813 + Missense_Mutation DNP CC AA AA TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:110033812_110033813CC>AA uc001dxr.3 + 9 1642_1643 c.1627_1628CC>AA c.(1627-1629)ccg>AAg p.P543K ATXN7L2_uc001dxs.3_Missense_Mutation_p.P170K|CYB561D1_uc010ovl.2_5'Flank|CYB561D1_uc010ovm.2_5'Flank|CYB561D1_uc001dxu.3_5'Flank|CYB561D1_uc001dxw.3_5'Flank|CYB561D1_uc010ovn.2_5'Flank|CYB561D1_uc010ovo.2_5'Flank|CYB561D1_uc009wfd.3_5'Flank|CYB561D1_uc010ovp.2_5'Flank NM_153340 NP_699171 Q5T6C5 AT7L2_HUMAN Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA. 543 breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) CACGCCATCCCCGTCCTTCAGC 0.649000 247 9 0 0 6.4e-05 0 0 DLEC1 9940 broad.mit.edu 37 3 38141783 38141783 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:38141783C>T uc003chp.1 + 18 2752 c.2731C>T c.(2731-2733)Ccc>Tcc p.P911S DLEC1_uc003cho.1_Missense_Mutation_p.P911S|DLEC1_uc010hgv.1_Missense_Mutation_p.P911S|DLEC1_uc003chr.1_Missense_Mutation_p.P17S|DLEC1_uc010hgx.1_Non-coding_Transcript NM_007337 NP_031363 Q9Y238 DLEC1_HUMAN Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA. 911 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) GCAGGTGTCTCCCTTCGACAT 0.587000 126 12 0 0 0.000219431 0 0 MUC16 94025 broad.mit.edu 37 19 9009652 9009653 + Missense_Mutation DNP CC AT AT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:9009652_9009653CC>AT uc002mkp.3 - 38 39277_39278 c.39073_39074GG>AT c.(39073-39075)ggg>ATg p.G13025M MUC16_uc010dwi.3_5'Flank|MUC16_uc010dwj.3_5'Flank|MUC16_uc021uog.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13027 SEA 7. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CATGTCCTCCCCATACTGCAGA 0.550000 78 6 0 0 6.4e-05 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16810768 16810768 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:16810768C>T uc010rcu.1 - 22 3250 c.3235G>A c.(3235-3237)Gag>Aag p.E1079K PLEKHA7_uc001mmo.3_Missense_Mutation_p.E1078K|PLEKHA7_uc001mmm.3_Missense_Mutation_p.E181K|PLEKHA7_uc010rcv.2_Missense_Mutation_p.E653K|PLEKHA7_uc001mmn.3_Missense_Mutation_p.E787K NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA. 1078 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 TTCATGCGCTCCAGCTGCTCC 0.627000 114 9 0 0 2.17888e-05 0 0 OTOA 146183 broad.mit.edu 37 16 21730463 21730463 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:21730463C>T uc002djh.3 + 14 1640 c.1639C>T c.(1639-1641)Ctg>Ttg p.L547L LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.L468L|OTOA_uc002dji.3_Silent_p.L223L|OTOA_uc010vbk.2_Silent_p.L195L NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA. 561 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix p.L547L(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) GGCTCTGTTCCTGTATGAGCT 0.522000 70 6 0 0 8.12818e-05 0 0 TRPC5 7224 broad.mit.edu 37 X 111020090 111020090 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chrX:111020090C>T uc004epl.1 - 10 3292 c.2373G>A c.(2371-2373)cgG>cgA p.R791R NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA. 791 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity p.A790P(1) biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TGGATTTGGCCCGAGCCCCAC 0.483000 100 18 0 0 0.000132079 0 0 ANK3 288 broad.mit.edu 37 10 61833963 61833963 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:61833963C>T uc001jky.3 - 36 7014 c.6676G>A c.(6676-6678)Gaa>Aaa p.E2226K ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 2226 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TCATCTTCTTCACTACTGGCT 0.408000 113 14 0 0 0.000219431 0 0 ZNFX1 57169 broad.mit.edu 37 20 47864578 47864578 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:47864578C>T uc002xui.3 - 13 5230 c.4983G>A c.(4981-4983)caG>caA p.Q1661Q NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA. 1661 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TAAGCCGTTCCTGGCTGGTTG 0.493000 92 19 0 0 7.07596e-05 0 0 ABCD2 225 broad.mit.edu 37 12 40012962 40012962 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:40012962C>T uc001rmb.2 - 0 882 c.456G>A c.(454-456)atG>atA p.M152I NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA. 152 ABC transmembrane type-1.|Interaction with PEX19. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 GGATGGCAATCATAAGCCACT 0.433000 79 9 0 0 2.17888e-05 0 0 FOLH1 2346 broad.mit.edu 37 11 49195014 49195014 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:49195014G>A uc001ngy.3 - 9 1381 c.1120C>T c.(1120-1122)Ctg>Ttg p.L374L FOLH1_uc009yly.3_Silent_p.L359L|FOLH1_uc009ylz.3_Silent_p.L359L|FOLH1_uc001ngz.3_Silent_p.L374L|FOLH1_uc009yma.3_Silent_p.L66L NM_004476 NP_001180402 Q04609 FOLH1_HUMAN Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA. 374 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TGACCTCCCAGAATGACATAT 0.388000 83 13 0 0 9.7654e-05 0 0 MAGEC2 51438 broad.mit.edu 37 X 141290877 141290877 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chrX:141290877G>A uc022cfj.1 - 0 897 c.897C>T c.(895-897)ttC>ttT p.F299F MAGEC2_uc004fbu.2_Silent_p.F299F NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA. 299 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) GACCCCACAGGAATTCATAAT 0.488000 HNSCC(46;0.14) 39 7 0 0 0.000274275 0 0 ERF 2077 broad.mit.edu 37 19 42752930 42752930 + Missense_Mutation SNP T G G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:42752930T>G uc002ote.4 - 3 1492 c.1334A>C c.(1333-1335)gAt>gCt p.D445A ERF_uc002otd.4_Missense_Mutation_p.D176A NM_006494 NP_006485 P50548 ERF_HUMAN Homo sapiens Ets2 repressor factor (ERF), mRNA. 445 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) CTCATCCTCATCACTGATGTC 0.672000 101 8 0 0 0.000274275 0 0 CSF2RB 1439 broad.mit.edu 37 22 37325760 37325760 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr22:37325760C>T uc003aqa.4 + 5 846 c.629C>T c.(628-630)gCc>gTc p.A210V CSF2RB_uc003aqc.4_Missense_Mutation_p.A210V NM_000395 NP_000386 P32927 IL3RB_HUMAN Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA. 210 Fibronectin type-III 1. respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) ACCTACGTGGCCCGAGTACGG 0.657000 25 9 0 0 2.17888e-05 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58849896 58849896 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:58849896G>A uc002qsc.2 + 2 827 c.680G>A c.(679-681)aGg>aAg p.R227K ZSCAN22_uc010yhz.1_Missense_Mutation_p.G222R NM_181846 NP_862829 P10073 ZSC22_HUMAN Homo sapiens zinc finger and SCAN domain containing 22 (ZSCAN22), mRNA. 227 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) GGTGCCTCGAGGAACAGTTCT 0.517000 135 28 0 0 0.000339439 0 0 PREX1 57580 broad.mit.edu 37 20 47276592 47276592 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:47276592C>T uc002xtw.1 - 15 1769 c.1746G>A c.(1744-1746)gaG>gaA p.E582E NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA. 582 DEP 2. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) ACTCGCTCTTCTCCAGCACTG 0.537000 48 13 0 0 0.000308642 0 0 SLC10A2 6555 broad.mit.edu 37 13 103698517 103698517 + Missense_Mutation SNP T C C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr13:103698517T>C uc001vpy.4 - 5 1610 c.1013A>G c.(1012-1014)aAg>aGg p.K338R NM_000452 NP_000443 Q12908 NTCP2_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA. 338 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TCCATTTGCCTTATAAAACGA 0.358000 102 12 0 0 0.000219431 0 0 FSHR 2492 broad.mit.edu 37 2 49247239 49247240 + Missense_Mutation DNP GG TT TT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:49247239_49247240GG>TT uc002rww.3 - 2 394_395 c.284_285CC>AA c.(283-285)ccc>cAA p.P95Q FSHR_uc010fbn.3_Missense_Mutation_p.P95Q|FSHR_uc002rwx.3_Missense_Mutation_p.P95Q|FSHR_uc010fbo.2_Non-coding_Transcript NM_000145 NP_000136 P23945 FSHR_HUMAN Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA. 95 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) CATGTAATTTGGGAAGGTTGGA 0.411000 Gonadal Dysgenesis, 46 XX 373 8 0 0 6.4e-05 0 0 SLC4A9 83697 broad.mit.edu 37 5 139743728 139743728 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:139743728G>A uc003lfm.2 + 9 1451 c.1416G>A c.(1414-1416)acG>acA p.T472T SLC4A9_uc003lfj.2_Silent_p.T448T|SLC4A9_uc011czg.1_Silent_p.T448T|SLC4A9_uc003lfl.2_Silent_p.T448T|SLC4A9_uc003lfk.2_Silent_p.T437T NM_031467 NP_113655 Q96Q91 B3A4_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 9 (SLC4A9), mRNA. 472 Membrane (anion exchange). integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAGCAGCACGGGGCCAGTGC 0.617000 26 5 0 0 1.23904e-05 0 0 NOVA1 4857 broad.mit.edu 37 14 26917851 26917851 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr14:26917851G>A uc001wqa.3 - 5 1258 c.472C>T c.(472-474)Cca>Tca p.P158S NOVA1_uc001wpy.3_Missense_Mutation_p.P280S|NOVA1_uc001wpz.3_Missense_Mutation_p.P256S NM_002515 NP_002506 P51513 NOVA1_HUMAN Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA. 283 RNA splicing|locomotory behavior|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) GCAGCAGTTGGTAACACTTCA 0.493000 75 6 0 0 8.12818e-05 0 0 KANSL1 284058 broad.mit.edu 37 17 44248223 44248224 + Missense_Mutation DNP GG TT TT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:44248223_44248224GG>TT uc002ikc.3 - 1 1757_1758 c.1286_1287CC>AA c.(1285-1287)ccc>cAA p.P429Q KANSL1_uc002ikd.3_Missense_Mutation_p.P429Q|KANSL1_uc010dav.3_Missense_Mutation_p.P429Q NM_001193466 NP_056258 Q7Z3B3 K1267_HUMAN Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA. 429 MLL1 complex protein binding CTACTCACAGGGGTACATGACG 0.446000 396 11 0 0 6.4e-05 0 0 MYH15 22989 broad.mit.edu 37 3 108174625 108174626 + Missense_Mutation DNP GG AA AA TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:108174625_108174626GG>AA uc003dxa.1 - 20 2336_2337 c.2279_2280CC>TT c.(2278-2280)tcc>tTT p.S760F NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 760 Myosin head-like. myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CTATCTCCAAGGAGCCAAGTAA 0.411000 146 16 0 0 6.4e-05 0 0 AKR1D1 6718 broad.mit.edu 37 7 137792290 137792290 + Missense_Mutation SNP A C C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:137792290A>C uc003vtz.3 + 6 906 c.819A>C c.(817-819)aaA>aaC p.K273N AKR1D1_uc011kqf.2_Missense_Mutation_p.K232N|AKR1D1_uc011kqe.1_Missense_Mutation_p.K273N|AKR1D1_uc010lmy.1_Non-coding_Transcript NM_005989 NP_005980 P51857 AK1D1_HUMAN Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA. 273 C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 TCATTCCTAAAAGCTTTAATC 0.363000 76 24 0 0 9.22233e-05 0 0 KIAA1715 80856 broad.mit.edu 37 2 176812397 176812397 + Missense_Mutation SNP G C C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:176812397G>C uc010fqw.1 - 8 715 c.715C>G c.(715-717)Caa>Gaa p.Q239E KIAA1715_uc010zes.1_Missense_Mutation_p.Q175E|KIAA1715_uc002ukd.1_Missense_Mutation_p.Q50E|KIAA1715_uc002ukc.1_Missense_Mutation_p.Q173E|KIAA1715_uc010zer.1_Missense_Mutation_p.Q173E|KIAA1715_uc010zet.1_Non-coding_Transcript Q9C0E8 LNP_HUMAN Homo sapiens KIAA1715 (KIAA1715), mRNA. 173 Pro-rich. integral to membrane protein binding endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(117;0.0793) AGGTTTCTTTGAGCTGCAGTT 0.443000 90 7 0 0 0.000157383 0 0 COL5A2 1290 broad.mit.edu 37 2 189907957 189907957 + Missense_Mutation SNP C T T rs142186131 TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:189907957C>T uc002uqk.3 - 47 3666 c.3391G>A c.(3391-3393)Ggt>Agt p.G1131S COL5A2_uc010frx.3_Missense_Mutation_p.G707S NM_000393 NP_000384 P05997 CO5A2_HUMAN Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA. 1131 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCATGATCACCTTTGTCACCA 0.423000 43 6 0 0 0.000157383 0 0 DNTT 1791 broad.mit.edu 37 10 98087355 98087355 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:98087355G>A uc001kmf.3 + 6 1175 c.1005G>A c.(1003-1005)cgG>cgA p.R335R DNTT_uc001kmg.3_Silent_p.R335R NM_004088 NP_004079 P04053 TDT_HUMAN Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA. 335 Mediates interaction with DNTTIP2. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) GAGGGTTCCGGAGGTAAATAA 0.547000 136 11 0 0 0.000308642 0 0 SPEM1 374768 broad.mit.edu 37 17 7324290 7324290 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:7324290C>T uc002ggv.3 + 2 321 c.296C>T c.(295-297)cCt>cTt p.P99L SPEM1_uc010vtw.1_Intron NM_199339 NP_955371 Q8N4L4 SPEM1_HUMAN Homo sapiens spermatid maturation 1 (SPEM1), mRNA. 99 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 12 Prostate(122;0.173) ACCATGGACCCTGTGATGATG 0.592000 43 11 0 0 6.40141e-05 0 0 ATXN7 6314 broad.mit.edu 37 3 63965609 63965609 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:63965609C>T uc003dlv.3 + 5 1071 c.518C>T c.(517-519)tCc>tTc p.S173F ATXN7_uc003dlw.4_Missense_Mutation_p.S173F|ATXN7_uc021wzy.1_Missense_Mutation_p.S173F|ATXN7_uc010hnw.3_Missense_Mutation_p.S28F|ATXN7_uc011bfn.2_Missense_Mutation_p.S28F NM_000333 NP_000324 O15265 ATX7_HUMAN Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA. 173 Poly-Ser.|Ser-rich. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) CATAGCTCATCCAGCAAGCCG 0.428000 73 7 0 0 0.000274275 0 0 PPM1B 5495 broad.mit.edu 37 2 44428393 44428394 + Missense_Mutation DNP GG TT TT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:44428393_44428394GG>TT uc002rtt.3 + 1 483_484 c.55_56GG>TT c.(55-57)ggg>TTg p.G19L PPM1B_uc002rts.3_Missense_Mutation_p.G19L|PPM1B_uc002rtu.3_Missense_Mutation_p.G19L|PPM1B_uc002rtv.3_Intron|PPM1B_uc002rtw.3_Missense_Mutation_p.G19L|PPM1B_uc002rtx.3_Missense_Mutation_p.G19L NM_002706 NP_002697 O75688 PPM1B_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA. 19 protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity kidney(4)|large_intestine(3)|lung(7)|skin(2) 16 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TCATGGTGCTGGGAATGGTTTA 0.406000 505 11 0 0 6.4e-05 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43939501 43939501 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:43939501C>T uc010yny.2 + 14 2522 c.2439C>T c.(2437-2439)acC>acT p.T813T PLEKHH2_uc002rte.3_3'UTR|PLEKHH2_uc002rtf.3_Silent_p.T812T NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA. 813 PH 2. cytoplasm|cytoskeleton|integral to membrane binding p.T813P(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GCAAACCCACCATGAAGGGAT 0.488000 220 31 0 0 0.000409698 0 0 AHI1 54806 broad.mit.edu 37 6 135726089 135726089 + Splice_Site SNP T C C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:135726089T>C uc003qgi.3 - 22 3372 c.2988_splice c.e22+1 p.K996_splice AHI1_uc003qgf.3_Splice_Site|AHI1_uc003qgg.3_Splice_Site_p.K446_splice|AHI1_uc003qgh.3_Splice_Site_p.K996_splice|AHI1_uc003qgj.3_Splice_Site_p.K996_splice|AHI1_uc003qgk.4_Splice_Site|AHI1_uc003qgl.3_Splice_Site_p.K996_splice NM_001134831 NP_060121 Q8N157 AHI1_HUMAN Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA. 996 adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) AACTACTTACTTTTGCAGCAC 0.323000 36 7 0 0 0.000274275 0 0 KLF11 8462 broad.mit.edu 37 2 10186469 10186470 + Missense_Mutation DNP GG TT TT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:10186469_10186470GG>TT uc002raf.1 + 1 397_398 c.235_236GG>TT c.(235-237)ggg>TTg p.G79L KLF11_uc021vdq.1_Missense_Mutation_p.G62L|KLF11_uc010yjc.2_Missense_Mutation_p.G62L NM_003597 NP_001171189 O14901 KLF11_HUMAN Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA. 79 apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle nucleus sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228) CTCTGACTCTGGGGATGTCACC 0.530000 411 11 0 0 6.4e-05 0 0 SCNN1G 6340 broad.mit.edu 37 16 23200820 23200820 + Missense_Mutation SNP G A A rs140901058 TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:23200820G>A uc002dlm.1 + 2 585 c.446G>A c.(445-447)gGa>gAa p.G149E NM_001039 NP_001030 P51170 SCNNG_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA. 149 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane WW domain binding|ligand-gated sodium channel activity NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) GTCTCAGAGGGAAAGCAGCCT 0.577000 153 23 0 0 9.22233e-05 0 0 USP24 23358 broad.mit.edu 37 1 55591072 55591072 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:55591072G>A uc021onw.1 - 33 4134 c.3881C>T c.(3880-3882)tCc>tTc p.S1294F USP24_uc001cyg.4_Missense_Mutation_p.S1128F NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA. 1294 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 CTGTCGGTAGGATGACTTTTC 0.458000 90 14 0 0 9.7654e-05 0 0 GLIS1 148979 broad.mit.edu 37 1 53980410 53980410 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:53980410C>T uc001cvr.1 - 6 1813 c.1246G>A c.(1246-1248)Ggc>Agc p.G416S NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA. 416 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 GGCAGGAGGCCCGATGCAAGT 0.612000 47 7 0 0 0.000157383 0 0 TRIM15 89870 broad.mit.edu 37 6 30131599 30131599 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:30131599G>A uc010jrx.3 + 0 617 c.138G>A c.(136-138)atG>atA p.M46I TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank NM_033229 NP_150232 Q9C019 TRI15_HUMAN Homo sapiens tripartite motif containing 15 (TRIM15), mRNA. 46 mesodermal cell fate determination intracellular zinc ion binding p.Q45H(1) large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 TCTCCCAGATGGGGGCCCAAT 0.687000 32 7 0 0 0.000157383 0 0 KEL 3792 broad.mit.edu 37 7 142640957 142640957 + Missense_Mutation SNP G A A rs147489746 TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:142640957G>A uc003wcb.3 - 13 1715 c.1505C>T c.(1504-1506)tCg>tTg p.S502L NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 502 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) CAGGAAGCTCGATCCAAGCTG 0.547000 25 4 0 0 1.23904e-05 0 0 ABCA10 10349 broad.mit.edu 37 17 67145059 67145059 + Nonsense_Mutation SNP A C C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:67145059A>C uc010dfa.1 - 39 5420 c.4541T>G c.(4540-4542)tTa>tGa p.L1514* ABCA10_uc002jhz.3_Non-coding_Transcript|ABCA10_uc010wqs.1_Nonsense_Mutation_p.L506*|ABCA10_uc010wqt.1_Non-coding_Transcript NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA. 1514 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) ACAGAGTTCTAAGAATACCTA 0.378000 80 17 0 0 0.000422831 0 0 ATM 472 broad.mit.edu 37 11 108225536 108225536 + Splice_Site SNP A G G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:108225536A>G uc001pkb.1 + 61 9172 c.8787_splice c.e61-2 p.R2929_splice ATM_uc009yxr.1_Splice_Site_p.R2929_splice|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Splice_Site_p.R1581_splice NM_000051 NP_000042 Q13315 ATM_HUMAN Homo sapiens ataxia telangiectasia mutated (ATM), mRNA. 2929 PI3K/PI4K. DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GTTTGACTCTAGATGCTGTGA 0.338000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 163 11 0 0 0.00010058 0 0 NEO1 4756 broad.mit.edu 37 15 73536798 73536798 + Missense_Mutation SNP G C C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr15:73536798G>C uc002avm.4 + 8 1757 c.1565G>C c.(1564-1566)gGa>gCa p.G522A NEO1_uc010ukx.2_Missense_Mutation_p.G522A|NEO1_uc010uky.2_Missense_Mutation_p.G522A|NEO1_uc002avn.4_Missense_Mutation_p.G542A|NEO1_uc010ukz.2_5'UTR NM_002499 NP_002490 Q92859 NEO1_HUMAN Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA. 522 Fibronectin type-III 1. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 CATGGCTCAGGAGAGAGTTCA 0.483000 58 13 0 0 0.000308642 0 0 SORCS3 22986 broad.mit.edu 37 10 107015523 107015523 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:107015523G>A uc001kyi.1 + 23 3528 c.3301G>A c.(3301-3303)Gta>Ata p.V1101I NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 1101 integral to membrane neuropeptide receptor activity p.G1100R(1)|p.G1100G(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GAAGCCGGGGGTACAAGTCAT 0.458000 32 6 0 0 0.000274275 0 0 SLC38A4 55089 broad.mit.edu 37 12 47186763 47186763 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:47186763C>T uc001rpi.2 - 2 491 c.92G>A c.(91-93)gGa>gAa p.G31E SLC38A4_uc001rpj.2_Missense_Mutation_p.G31E|SLC38A4_uc009zkl.2_Missense_Mutation_p.G31E NM_018018 NP_060488 Q969I6 S38A4_HUMAN Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA. 31 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) TTCTGAATTTCCTATCCCGAT 0.428000 174 8 0 0 0.000274275 0 0 DHX58 79132 broad.mit.edu 37 17 40256929 40256930 + Missense_Mutation DNP CG AT AT rs140286371 byFrequency TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:40256929_40256930CG>AT uc002hyw.3 - 10 1640_1641 c.1417_1418CG>AT c.(1417-1419)cgg>ATg p.R473M DHX58_uc002hyv.3_Non-coding_Transcript|DHX58_uc010wgf.1_Missense_Mutation_p.R466M NM_024119 NP_077024 Q96C10 DHX58_HUMAN Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA. 473 Helicase C-terminal. R -> W (in Ref. 1; BAB13818). innate immune response cytoplasm ATP binding|DNA binding|RNA binding|helicase activity|protein binding|zinc ion binding breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CTGATCGGCCCGGGCACGGCCC 0.624000 64 6 0 0 6.4e-05 0 0 MYH15 22989 broad.mit.edu 37 3 108110754 108110754 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:108110754C>T uc003dxa.1 - 37 5400 c.5343G>A c.(5341-5343)ctG>ctA p.L1781L NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 1781 myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GCTTCTTCTTCAGTTCTTCTG 0.413000 125 15 0 0 9.7654e-05 0 0 CTNNA3 29119 broad.mit.edu 37 10 69366759 69366759 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:69366759C>T uc009xpn.1 - 2 271 c.148G>A c.(148-150)Gga>Aga p.G50R CTNNA3_uc001jmw.2_Missense_Mutation_p.G50R|CTNNA3_uc001jmx.4_Missense_Mutation_p.G50R|CTNNA3_uc009xpo.1_5'UTR|CTNNA3_uc001jna.2_Missense_Mutation_p.G62R NM_001127384 NP_037398 Q9UI47 CTNA3_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA. 50 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 TTCGAACGTCCTTTTTTCCTG 0.408000 68 10 0 0 3.86212e-05 0 0 CEP76 79959 broad.mit.edu 37 18 12691399 12691399 + Nonsense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr18:12691399G>A uc002kri.3 - 6 1048 c.892C>T c.(892-894)Cga>Tga p.R298* PSMG2_uc002krg.3_Intron|CEP76_uc002krh.3_Nonsense_Mutation_p.R120*|CEP76_uc010wzz.2_Nonsense_Mutation_p.R223*|CEP76_uc010xaa.1_Nonsense_Mutation_p.R120* NM_024899 NP_079175 Q8TAP6 CEP76_HUMAN Homo sapiens centrosomal protein 76kDa (CEP76), mRNA. 298 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TGTGAGGGTCGAATTTGCAAA 0.348000 93 15 0 0 7.07596e-05 0 0 GPR179 440435 broad.mit.edu 37 17 36499253 36499253 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:36499253C>T uc002hpz.3 - 0 441 c.420G>A c.(418-420)ggG>ggA p.G140G NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA. 140 integral to membrane|plasma membrane G-protein coupled receptor activity p.E139*(1) breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CTCTTGGGTCCCCCTCGGCCA 0.607000 42 4 0 0 3.59834e-05 0 0 CCRL2 9034 broad.mit.edu 37 3 46450311 46450311 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:46450311C>T uc010hjg.3 + 1 890 c.777C>T c.(775-777)ttC>ttT p.F259F CCRL2_uc003cpp.4_Silent_p.F247F|CCRL2_uc010hjf.3_Silent_p.F247F|CCRL2_uc021wxc.1_Silent_p.F247F NM_001130910 NP_003956 O00421 CCRL2_HUMAN Homo sapiens chemokine (C-C motif) receptor-like 2 (CCRL2), transcript variant 2, mRNA. 247 chemotaxis|inflammatory response integral to plasma membrane CCR chemokine receptor binding|chemokine receptor activity lung(3)|ovary(1)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) TGGTAGTCTTCCTTCTGATGT 0.403000 292 23 0 0 0.000184323 0 0 INSR 3643 broad.mit.edu 37 19 7170679 7170681 + Missense_Mutation DNP CC AA AA TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:7170679_7170681CC>AA uc002mgd.1 - 5 1459_1461 c.1350_1352GG>TT c.(1348-1353)cagggg>caTTg p.450_451QG>H INSR_uc002mge.1_Missense_Mutation_p.450_451QG>H|INSR_uc002mgf.3_Missense_Mutation_p.450_451QG>H NM_000208 NP_000199 P06213 INSR_HUMAN Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA. 450 G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GAAGAGTTTCCCCTGAGTGATGG 0.478000 540 12 0 0 6.4e-05 0 0 PAPOLA 10914 broad.mit.edu 37 14 97009114 97009114 + Silent SNP G T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr14:97009114G>T uc001yfq.3 + 13 1390 c.1173G>T c.(1171-1173)gtG>gtT p.V391V PAPOLA_uc001yfr.3_Silent_p.V391V|PAPOLA_uc010twv.2_Silent_p.V391V|PAPOLA_uc010avp.3_Silent_p.V141V NM_032632 NP_116021 P51003 PAPOA_HUMAN Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA. 391 mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|RNA binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) TGTTCAGGGTGGGCTTGGTGG 0.378000 141 7 0.000274275 0.00716887 0.000274275 1 0 WDR49 151790 broad.mit.edu 37 3 167246892 167246892 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:167246892C>T uc003fev.1 - 9 1602 c.1298G>A c.(1297-1299)cGa>cAa p.R433Q WDR49_uc003feu.1_Missense_Mutation_p.R258Q|WDR49_uc011bpd.1_Missense_Mutation_p.R497Q|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN Homo sapiens WD repeat domain 49 (WDR49), mRNA. 433 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 GGTAAGGTATCGATTCATCTT 0.343000 88 7 0 0 0.000274275 0 0 PRR11 55771 broad.mit.edu 37 17 57275069 57275069 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:57275069C>T uc002ixf.2 + 8 1245 c.933C>T c.(931-933)acC>acT p.T311T PRR11_uc021uar.1_Non-coding_Transcript NM_018304 NP_060774 Q96HE9 PRR11_HUMAN Homo sapiens proline rich 11 (PRR11), mRNA. 311 breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1) 16 Medulloblastoma(34;0.0922)|all_neural(34;0.101) CAGGTGGAACCCCTCTTACCA 0.408000 194 7 0 0 0.000274275 0 0 SLC24A3 57419 broad.mit.edu 37 20 19566131 19566131 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:19566131C>T uc002wrl.3 + 5 752 c.555C>T c.(553-555)ggC>ggT p.G185G NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA. 185 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CCATCGTGGGCTCAGCGGTAT 0.532000 170 38 0 0 0.000374591 0 0 TANC2 26115 broad.mit.edu 37 17 61498334 61498334 + Missense_Mutation SNP T C C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:61498334T>C uc002jal.4 + 24 5014 c.4991T>C c.(4990-4992)aTt>aCt p.I1664T TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.I775T NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA. 1664 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 CAAGGGTCAATTGGGGGAATC 0.537000 93 5 0 0 1.23904e-05 0 0 TRIM22 10346 broad.mit.edu 37 11 5730298 5730298 + Missense_Mutation SNP A G G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:5730298A>G uc001mbr.3 + 7 1296 c.917A>G c.(916-918)aAt>aGt p.N306S TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|TRIM22_uc010qzm.2_Missense_Mutation_p.N134S|TRIM22_uc009yes.3_Missense_Mutation_p.N302S|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron NM_006074 NP_006065 Q8IYM9 TRI22_HUMAN Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA. 306 B30.2/SPRY. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2) 23 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) GTGATGCTGAATCCAGGCAGT 0.393000 66 14 0 0 0.000219431 0 0 ZFYVE1 53349 broad.mit.edu 37 14 73490736 73490736 + Nonsense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr14:73490736G>A uc001xnm.3 - 1 1202 c.481C>T c.(481-483)Cag>Tag p.Q161* ZFYVE1_uc010arj.3_Nonsense_Mutation_p.Q161* NM_021260 NP_067083 Q9HBF4 ZFYV1_HUMAN Homo sapiens zinc finger, FYVE domain containing 1 (ZFYVE1), transcript variant 1, mRNA. 161 Golgi stack|endoplasmic reticulum|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) GTGCTTACCTGAATTTCTTCA 0.448000 206 20 0 0 0.000229342 0 0 CCDC85A 114800 broad.mit.edu 37 2 56611443 56611443 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:56611443G>A uc002rzn.3 + 5 2117 c.1615G>A c.(1615-1617)Gga>Aga p.G539R CCDC85A_uc021vhw.1_Non-coding_Transcript NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA. 539 breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TTCGTGTCCTGGAATTAGGCA 0.413000 75 17 0 0 0.000295444 0 0 VIP 7432 broad.mit.edu 37 6 153076434 153076434 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:153076434C>T uc003qpe.3 + 3 433 c.261C>T c.(259-261)acC>acT p.T87T VIP_uc003qpf.3_Silent_p.T87T|VIP_uc010kjd.3_Silent_p.T87T NM_003381 NP_003372 P01282 VIP_HUMAN Homo sapiens vasoactive intestinal peptide (VIP), transcript variant 1, mRNA. 87 G-protein coupled receptor protein signaling pathway|body fluid secretion|positive regulation of cell proliferation extracellular region neuropeptide hormone activity p.T87T(2) haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1) 6 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144) GAGTTTTCACCAGTGACTTCA 0.318000 66 9 0 0 3.86212e-05 0 0 IL22RA1 58985 broad.mit.edu 37 1 24447909 24447909 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:24447909C>T uc001biq.2 - 6 1314 c.1111G>A c.(1111-1113)Gaa>Aaa p.E371K IL22RA1_uc010oeg.1_Missense_Mutation_p.E303K|IL22RA1_uc009vrb.2_Missense_Mutation_p.E235K|IL22RA1_uc010oeh.2_Missense_Mutation_p.E371K NM_021258 NP_067081 Q8N6P7 I22R1_HUMAN Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA. 371 integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) AATTGAGCTTCGGGGGTCACC 0.627000 111 12 0 0 0.000308642 0 0 ARHGEF19 128272 broad.mit.edu 37 1 16532070 16532070 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:16532070G>A uc001ayc.1 - 8 1681 c.1544C>T c.(1543-1545)cCc>cTc p.P515L ARHGEF19_uc009voo.1_5'UTR NM_153213 NP_694945 Q8IW93 ARHGJ_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA. 515 DH. regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) CCTCTGGAAGGGCAGGATAAG 0.632000 24 5 0 0 3.59834e-05 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 57 12 0 0 0.000308642 0 0 ZNF90 7643 broad.mit.edu 37 19 20229365 20229365 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:20229365C>T uc002nor.2 + 3 1141 c.1002C>T c.(1000-1002)atC>atT p.I334I ZNF90_uc021url.1_Intron NM_007138 NP_009069 Q03938 ZNF90_HUMAN Homo sapiens zinc finger protein 90 (ZNF90), mRNA. 334 Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.I334I(1) breast(1)|lung(2)|ovary(1)|skin(1) 5 ATAAGAGAATCCATACTGGAG 0.408000 12 6 0 0 3.59834e-05 0 0 PCDHB14 56122 broad.mit.edu 37 5 140603804 140603804 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:140603804C>T uc003ljb.3 + 0 727 c.727C>T c.(727-729)Cct>Tct p.P243S NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN Homo sapiens protocadherin beta 14 (PCDHB14), mRNA. 243 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTGAGTTTCCTCAGAGTCT 0.507000 69 12 0 0 0.000151284 0 0 PXDNL 137902 broad.mit.edu 37 8 52366211 52366211 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:52366211C>T uc003xqu.4 - 9 1218 c.1117G>A c.(1117-1119)Gga>Aga p.G373R NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 373 Ig-like C2-type 2. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.E373Q(1) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TGCCTGGATCCATCCAGCTCC 0.507000 36 11 0 0 6.40141e-05 0 0 DKFZp686O16217 0 broad.mit.edu 37 14 106053516 106053516 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr14:106053516C>T uc001yrt.3 - 3 830 c.799G>A c.(799-801)Gag>Aag p.E267K abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment; AGGTACTTCTCGCGGGGCAGC 0.647000 36 10 0 0 3.86212e-05 0 0 LRP6 4040 broad.mit.edu 37 12 12334114 12334115 + Missense_Mutation DNP CC AA AA TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:12334114_12334115CC>AA uc001rah.4 - 5 1377_1378 c.1235_1236GG>TT c.(1234-1236)tgg>tTT p.W412F BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.W412F NM_002336 NP_002327 O75581 LRP6_HUMAN Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA. 412 Beta-propeller 2. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) TTCGTGCAACCCAGTCCACAGC 0.465000 491 12 0 0 6.4e-05 0 0 CNST 163882 broad.mit.edu 37 1 246810596 246810596 + Missense_Mutation SNP T C C rs143401878 TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:246810596T>C uc001ibp.3 + 8 1471 c.1093T>C c.(1093-1095)Tgc>Cgc p.C365R CNST_uc001ibo.4_Missense_Mutation_p.C365R NM_152609 NP_689822 Q6PJW8 CNST_HUMAN Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA. 365 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 GGAGCTGCTCTGCAGCGCTGA 0.597000 OREG0014367 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 64 35 0 0 0.000132358 0 0 NBPF1 55672 broad.mit.edu 37 1 16913547 16913548 + Missense_Mutation DNP GG TT TT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:16913547_16913548GG>TT uc009vos.1 - 10 1663_1664 c.775_776CC>AA c.(775-777)cca>AAa p.P259K NBPF1_uc009vot.1_5'UTR|NBPF1_uc001ayz.1_5'UTR|NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. 259 NBPF 1. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GAGGCTACCTGGGAGAATGTTT 0.401000 584 17 0 0 6.4e-05 0 0 DMWD 1762 broad.mit.edu 37 19 46289702 46289702 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:46289702G>A uc002pdj.1 - 2 1098 c.1052C>T c.(1051-1053)aCc>aTc p.T351I DMWD_uc021uwc.1_Missense_Mutation_p.P5S|DMWD_uc010eko.1_Missense_Mutation_p.T36I NM_004943 NP_004934 Q09019 DMWD_HUMAN Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA. 351 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) GGACCACACGGTGACCAGGTC 0.642000 65 10 0 0 0.00010058 0 0 PASD1 139135 broad.mit.edu 37 X 150841077 150841077 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chrX:150841077G>A uc004fev.4 + 13 2192 c.1860G>A c.(1858-1860)caG>caA p.Q620Q NM_173493 NP_775764 Q8IV76 PASD1_HUMAN Homo sapiens PAS domain containing 1 (PASD1), mRNA. 620 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CTGAACAACAGCCCTCTGGCT 0.468000 34 6 0 0 0.000157383 0 0 SYNE1 23345 broad.mit.edu 37 6 152501270 152501270 + Splice_Site SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:152501270C>T uc021zhb.1 - 127 23683 c.23460_splice c.e127+1 p.K7820_splice SYNE1_uc003qos.4_Splice_Site_p.K2344_splice|SYNE1_uc003qot.4_Splice_Site_p.K7749_splice|SYNE1_uc003qou.4_Splice_Site_p.K7820_splice|SYNE1_uc011eez.2_Splice_Site_p.K22_splice|SYNE1_uc003qoq.4_Splice_Site_p.K22_splice|SYNE1_uc003qor.4_Splice_Site_p.K720_splice NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 7820 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GCATTCCATACCTTCTTGAGC 0.383000 HNSCC(10;0.0054) 55 10 0 0 2.17888e-05 0 0 PRDM2 7799 broad.mit.edu 37 1 14104971 14104971 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:14104971C>T uc001avi.3 + 7 1537 c.681C>T c.(679-681)ctC>ctT p.L227L PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Silent_p.L227L|PRDM2_uc021ogk.1_Silent_p.L26L|PRDM2_uc001avk.3_Silent_p.L26L|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA. 227 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) CGGCCACCCTCCAGGAGGTGG 0.582000 124 16 0 0 0.000308642 0 0 PLCB1 23236 broad.mit.edu 37 20 8637901 8637901 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:8637901G>A uc002wnb.3 + 7 668 c.665G>A c.(664-666)cGa>cAa p.R222Q PLCB1_uc010zrb.1_Missense_Mutation_p.R121Q|PLCB1_uc002wna.3_Missense_Mutation_p.R222Q|PLCB1_uc002wnc.1_Missense_Mutation_p.R121Q NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA. 222 CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission cytosol|nuclear chromatin|nuclear speck GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 CTTTGCCCTCGACCTGAAATT 0.383000 77 13 0 0 9.7654e-05 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138453985 138453985 + Silent SNP A G G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:138453985A>G uc003vuf.3 - 2 367 c.129T>C c.(127-129)aaT>aaC p.N43N ATP6V0A4_uc003vug.3_Silent_p.N43N|ATP6V0A4_uc003vuh.3_Silent_p.N43N NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA. 43 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 AGCTGTTCACATTCATATTTA 0.328000 106 5 0 0 3.59834e-05 0 0 EPHA6 285220 broad.mit.edu 37 3 97167475 97167475 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:97167475C>T uc010how.1 + 6 1838 c.1795C>T c.(1795-1797)Ctt>Ttt p.L599F EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_5'UTR|EPHA6_uc003drs.4_5'UTR|EPHA6_uc003drr.4_5'UTR|EPHA6_uc003drt.3_5'UTR|EPHA6_uc010hox.1_Non-coding_Transcript NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 504 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CATCACAGGTCTTAAGCCAGC 0.448000 79 6 0 0 3.59834e-05 0 0 IP6K1 9807 broad.mit.edu 37 3 49785291 49785291 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:49785291G>A uc021wyl.1 - 1 836 c.183C>T c.(181-183)tcC>tcT p.S61S IP6K1_uc003cxm.1_Silent_p.S61S|IP6K1_uc003cxn.1_Intron NM_001242829 NP_001229758 Q92551 IP6K1_HUMAN Homo sapiens inositol hexakisphosphate kinase 1 (IP6K1), transcript variant 3, mRNA. 61 phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 15 CGGGAGGGAGGGACTCGTAAA 0.537000 35 6 0 0 8.12818e-05 0 0 SLC6A13 6540 broad.mit.edu 37 12 344274 344274 + Silent SNP C T T rs147679992 byFrequency TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:344274C>T uc001qic.2 - 6 903 c.813G>A c.(811-813)acG>acA p.T271T SLC6A13_uc009zdj.2_Silent_p.T271T|SLC6A13_uc010sdl.2_Silent_p.T179T|SLC6A13_uc010sdm.1_Silent_p.T152T NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA. 271 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity p.L270L(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) CCCACAGACGCGTGAGGTTTG 0.567000 54 12 0 0 0.000219431 0 0 CEP70 80321 broad.mit.edu 37 3 138224235 138224236 + Nonsense_Mutation DNP CC AA AA TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:138224235_138224236CC>AA uc003esl.3 - 12 1320_1321 c.1122_1123GG>TT c.(1120-1125)ggggga>ggTTga p.G375* CEP70_uc011bmk.2_Nonsense_Mutation_p.G355*|CEP70_uc011bml.2_Nonsense_Mutation_p.G357*|CEP70_uc011bmm.2_Nonsense_Mutation_p.G223*|CEP70_uc003esm.3_Nonsense_Mutation_p.G375* NM_024491 NP_077817 Q8NHQ1 CEP70_HUMAN Homo sapiens centrosomal protein 70kDa (CEP70), mRNA. 375 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 TTTTGGACTCCCCCTTTGGTCT 0.342000 482 12 0 0 6.4e-05 0 0 KCNJ3 3760 broad.mit.edu 37 2 155566133 155566133 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:155566133G>A uc002tyv.1 + 1 916 c.721G>A c.(721-723)Ggt>Agt p.G241S KCNJ3_uc010zce.1_Intron|KCNJ3_uc021vrh.1_Missense_Mutation_p.G241S NM_002239 NP_002230 P48549 IRK3_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA. 241 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) GACACCTGAGGGTGAGTTCCT 0.443000 75 10 0 0 0.00010058 0 0 DYNC2LI1 51626 broad.mit.edu 37 2 44031824 44031825 + Missense_Mutation DNP CC AA AA TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:44031824_44031825CC>AA uc002rtl.3 + 10 949_950 c.849_850CC>AA c.(847-852)gcccac>gcAAac p.H284N DYNC2LI1_uc002rtk.3_Missense_Mutation_p.H283N|DYNC2LI1_uc010ynz.2_Missense_Mutation_p.H157N|DYNC2LI1_uc021vgq.1_Missense_Mutation_p.H157N NM_001193464 NP_001180393 Q8TCX1 DC2L1_HUMAN Homo sapiens dynein, cytoplasmic 2, light intermediate chain 1 (DYNC2LI1), transcript variant 4, mRNA. 283 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1) 26 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) AGCTTCATGCCCACTCACCTAT 0.347000 560 12 0 0 6.4e-05 0 0 PCLO 27445 broad.mit.edu 37 7 82582497 82582497 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:82582497G>A uc003uhx.2 - 4 8061 c.7772C>T c.(7771-7773)aCt>aTt p.T2591I PCLO_uc003uhv.2_Missense_Mutation_p.T2591I|PCLO_uc010lec.3_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 2522 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATCTGTTGGAGTCCCTGGTTC 0.448000 191 13 0 0 0.000219431 0 0 RPS6KL1 83694 broad.mit.edu 37 14 75378079 75378079 + Missense_Mutation SNP A G G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr14:75378079A>G uc010tux.2 - 5 1064 c.536T>C c.(535-537)cTa>cCa p.L179P RPS6KL1_uc010asd.2_Non-coding_Transcript|RPS6KL1_uc001xqx.1_5'Flank|RPS6KL1_uc021rwp.1_Missense_Mutation_p.L148P|RPS6KL1_uc001xqy.1_Missense_Mutation_p.L179P NM_031464 NP_113652 Q9Y6S9 RPKL1_HUMAN Homo sapiens ribosomal protein S6 kinase-like 1 (RPS6KL1), mRNA. 179 Protein kinase. ribosome ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(234;0.00658) GCACCTGGGTAGGCTCTGGGA 0.627000 53 7 0 0 0.000274275 0 0 KCTD8 386617 broad.mit.edu 37 4 44177029 44177029 + Nonsense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr4:44177029C>T uc003gwu.3 - 1 1484 c.1200G>A c.(1198-1200)tgG>tgA p.W400* NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA. 400 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 GTGGGGGTATCCATTGTACAG 0.498000 HNSCC(17;0.042) 180 39 0 0 0.000191422 0 0 CNOT1 23019 broad.mit.edu 37 16 58589751 58589751 + Missense_Mutation SNP T A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:58589751T>A uc002env.3 - 19 2834 c.2541A>T c.(2539-2541)gaA>gaT p.E847D CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.E842D|CNOT1_uc002enx.3_Missense_Mutation_p.E847D|CNOT1_uc002enz.1_Missense_Mutation_p.E276D NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA. 847 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) AGCTGTTTGCTTCATCATCTA 0.413000 59 9 0 0 2.17888e-05 0 0 SLC6A14 11254 broad.mit.edu 37 X 115576098 115576098 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chrX:115576098C>T uc004eqi.3 + 5 800 c.669C>T c.(667-669)ctC>ctT p.L223L SLC6A14_uc011mtm.2_Non-coding_Transcript NM_007231 NP_009162 Q9UN76 S6A14_HUMAN Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA. 223 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) AAGTGGCGCTCCAACGGTCAA 0.378000 34 10 0 0 6.40141e-05 0 0 CWH43 80157 broad.mit.edu 37 4 49034655 49034655 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr4:49034655C>T uc003gyv.3 + 11 1763 c.1581C>T c.(1579-1581)atC>atT p.I527I CWH43_uc011bzl.2_Silent_p.I500I NM_025087 NP_079363 Q9H720 PG2IP_HUMAN Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA. 527 GPI anchor biosynthetic process integral to membrane p.E526K(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 AGGGCGAGATCGCACCAGCCA 0.483000 121 23 0 0 0.000229342 0 0 AHNAK2 113146 broad.mit.edu 37 14 105406162 105406163 + Missense_Mutation DNP CC AA AA TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr14:105406162_105406163CC>AA uc010axc.1 - 6 15745_15746 c.15625_15626GG>TT c.(15625-15627)ggg>TTg p.G5209L AHNAK2_uc021sen.1_Missense_Mutation_p.G606L|AHNAK2_uc021seo.1_Missense_Mutation_p.G207L|AHNAK2_uc001ypx.2_Missense_Mutation_p.G5109L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 5209 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTTTCCAGCCCCGCCTCTGTCC 0.559000 308 13 0 0 6.4e-05 0 0 GRM1 2911 broad.mit.edu 37 6 146720330 146720330 + Missense_Mutation SNP A G G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:146720330A>G uc010khw.1 + 7 2625 c.2155A>G c.(2155-2157)Acc>Gcc p.T719A GRM1_uc010khv.1_Missense_Mutation_p.T719A|GRM1_uc003qll.2_Missense_Mutation_p.T719A|GRM1_uc011edz.1_Missense_Mutation_p.T719A|GRM1_uc011eea.1_Missense_Mutation_p.T719A NM_000838 NP_000829 Q13255 GRM1_HUMAN Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA. 719 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TGTGCAACTAACCCTGGTGGT 0.517000 51 10 0 0 2.17888e-05 0 0 TIGD7 91151 broad.mit.edu 37 16 3350564 3350564 + Missense_Mutation SNP C A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:3350564C>A uc021tcc.1 - 0 51 c.51G>T c.(49-51)aaG>aaT p.K17N ZNF263_uc002cur.2_3'UTR|TIGD7_uc002cus.3_Missense_Mutation_p.K17N NM_033208 NP_149985 Q6NT04 TIGD7_HUMAN Homo sapiens tigger transposable element derived 7 (TIGD7), mRNA. 17 HTH psq-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 TACTTAGAACCTTCATTTTCT 0.328000 108 8 1.06961e-07 2.88961e-06 0.000157383 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G C C rs141357429 by1000genomes TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:39274087G>C uc002hvz.3 - 0 520 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA. 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(2) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 9 3 0 0 6.4e-05 0 0 BCAT1 586 broad.mit.edu 37 12 25031517 25031517 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:25031517G>A uc001rgd.4 - 4 984 c.457C>T c.(457-459)Cca>Tca p.P153S BCAT1_uc001rgc.3_Missense_Mutation_p.P152S|BCAT1_uc010six.2_Missense_Mutation_p.P165S|BCAT1_uc010siy.2_Missense_Mutation_p.P116S|BCAT1_uc001rge.4_Missense_Mutation_p.P92S NM_005504 NP_005495 P54687 BCAT1_HUMAN Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA. 153 G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity breast(1)|large_intestine(1)|lung(3)|prostate(2) 7 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) GTTGAATATGGGACCCATTCT 0.363000 60 6 0 0 0.000274275 0 0 FAM171A1 221061 broad.mit.edu 37 10 15262951 15262951 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:15262951G>A uc001iob.3 - 5 870 c.863C>T c.(862-864)cCc>cTc p.P288L NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA. 288 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 ACCTGGGATGGGAGGGGACAT 0.552000 128 13 0 0 0.000422831 0 0 POTEA 340441 broad.mit.edu 37 8 43211927 43211928 + Missense_Mutation DNP GG AA AA TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:43211927_43211928GG>AA uc003xpz.1 + 11 1429_1430 c.1386_1387GG>AA c.(1384-1389)caggat>caAAat p.D463N POTEA_uc003xqa.1_Missense_Mutation_p.D417N NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA. 463 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CAAAAATCCAGGATGCAGTTAT 0.361000 68 10 0 0 6.4e-05 0 0 LRRC66 339977 broad.mit.edu 37 4 52883637 52883637 + Missense_Mutation SNP A G G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr4:52883637A>G uc003gzi.3 - 0 150 c.143T>C c.(142-144)tTt>tCt p.F48S NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA. 48 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 CTTTCCGGTAAAAGAACAATT 0.333000 52 10 0 0 2.17888e-05 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52896717 52896717 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:52896717G>A uc001cty.2 - 27 4932 c.4679C>T c.(4678-4680)tCc>tTc p.S1560F ZCCHC11_uc001ctx.2_Missense_Mutation_p.S1559F NM_001009881 NP_001009881 Q5TAX3 TUT4_HUMAN Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA. 1559 Pro-rich. RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance cytoplasm|nucleolus RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 GTTTACCAGGGAATTTGGAGC 0.463000 115 30 0 0 0.000409698 0 0 NLGN2 57555 broad.mit.edu 37 17 7319161 7319161 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:7319161G>A uc002ggt.1 + 5 1442 c.1369G>A c.(1369-1371)Gac>Aac p.D457N NM_020795 NP_065846 Q8NFZ4 NLGN2_HUMAN Homo sapiens neuroligin 2 (NLGN2), mRNA. 457 cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity p.T456A(1) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3) 22 Prostate(122;0.157) GCTCTTTACTGACCACCAATG 0.577000 35 10 0 0 3.86212e-05 0 0 TOX2 84969 broad.mit.edu 37 20 42697318 42697318 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:42697318C>T uc010ggo.3 + 8 1553 c.1513C>T c.(1513-1515)Ctc>Ttc p.L505F TOX2_uc002xle.4_Missense_Mutation_p.L463F|TOX2_uc010ggp.3_Missense_Mutation_p.L463F|TOX2_uc002xlf.4_Missense_Mutation_p.L487F|TOX2_uc010zwk.2_Missense_Mutation_p.L383F NM_001098797 NP_116272 Q96NM4 TOX2_HUMAN Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA. 487 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) ATCGCTCTACCTCACCTAATC 0.632000 25 6 0 0 8.12818e-05 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54894360 54894360 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:54894360G>A uc001sgc.4 + 2 336 c.257G>A c.(256-258)aGa>aAa p.R86K NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.R36K NM_005337 NP_005328 P55160 NCKPL_HUMAN Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA. 86 B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug SCAR complex|cytosol|integral to plasma membrane|membrane fraction Rac GTPase activator activity|protein complex binding|protein kinase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 GAGATAATTAGATTCCTCACC 0.393000 132 10 0 0 3.86212e-05 0 0 ALG5 29880 broad.mit.edu 37 13 37539795 37539795 + Silent SNP T A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr13:37539795T>A uc001uvy.3 - 7 757 c.690A>T c.(688-690)ggA>ggT p.G230G ALG5_uc010teq.2_Silent_p.G200G|ALG5_uc010ter.2_Non-coding_Transcript NM_013338 NP_037470 Q9Y673 ALG5_HUMAN Homo sapiens asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae) (ALG5), transcript variant 1, mRNA. 230 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472) TGTCCCTGATTCCTTTGACAC 0.413000 67 7 0 0 8.12818e-05 0 0 GIPC1 10755 broad.mit.edu 37 19 14591193 14591193 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:14591193C>T uc002myt.3 - 5 849 c.579G>A c.(577-579)gaG>gaA p.E193E GIPC1_uc002myv.3_Silent_p.E96E|GIPC1_uc002myu.3_Silent_p.E193E|GIPC1_uc002myw.3_Silent_p.E96E|GIPC1_uc002myx.3_Silent_p.E193E|GIPC1_uc002myy.3_Silent_p.E96E NM_005716 NP_974223 O14908 GIPC1_HUMAN Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 1, mRNA. 193 PDZ. G-protein coupled receptor protein signaling pathway|endothelial cell migration|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 GCCGGGCCACCTCGTAGTGCC 0.662000 OREG0025316 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 73 9 0 0 0.000274275 0 0 ZC3H3 23144 broad.mit.edu 37 8 144621206 144621206 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:144621206G>A uc003yyd.2 - 1 360 c.331C>T c.(331-333)Ctt>Ttt p.L111F NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA. 111 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) TGTCTCTCAAGGACATGCTGC 0.662000 68 11 0 0 0.00010058 0 0 ANAPC5 51433 broad.mit.edu 37 12 121785684 121785685 + Splice_Site DNP CC AA AA TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:121785684_121785685CC>AA uc001uag.3 - 2 330 c.208_splice c.e2-1 p.G70_splice ANAPC5_uc001uah.3_Splice_Site NM_016237 NP_057321 Q9UJX4 APC5_HUMAN Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA. 70 G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3) 31 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ATATCTGGGCCCTGTGTAAAGG 0.361000 426 9 0 0 6.4e-05 0 0 CAPN3 825 broad.mit.edu 37 15 42652284 42652285 + Missense_Mutation DNP CC AA AA TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr15:42652284_42652285CC>AA uc001zpn.1 + 0 587_588 c.281_282CC>AA c.(280-282)ccc>cAA p.P94Q CAPN3_uc001zpk.1_Intron|CAPN3_uc001zpl.1_Intron|CAPN3_uc010udf.1_Intron|CAPN3_uc010udg.1_Intron|CAPN3_uc001zpo.1_Missense_Mutation_p.P94Q|CAPN3_uc001zpp.1_Missense_Mutation_p.P94Q NM_000070 NP_000061 P20807 CAN3_HUMAN Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA. 94 Calpain catalytic. Missing (in LGMD2A). muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 47 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) CAGAAGTTCCCCATCCAGTTCG 0.525000 282 10 0 0 6.4e-05 0 0 IDO1 3620 broad.mit.edu 37 8 39775637 39775637 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:39775637G>A uc003xnm.3 + 2 328 c.214G>A c.(214-216)Gac>Aac p.D72N NM_002164 NP_002155 P14902 I23O1_HUMAN Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA. 72 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) TCATCTCACAGACCACAAGTC 0.423000 103 22 0 0 5.49717e-05 0 0 OR4S1 256148 broad.mit.edu 37 11 48328317 48328317 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:48328317C>T uc010rhu.2 + 0 543 c.543C>T c.(541-543)ccC>ccT p.P181P NM_001004725 NP_001004725 Q8NGB4 OR4S1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA. 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P181T(1)|p.P181L(1) endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 ATGTTCATCCCCTGCTCAAGT 0.483000 55 14 0 0 0.000219431 0 0 DNAJB12 54788 broad.mit.edu 37 10 74114714 74114714 + Missense_Mutation SNP A C C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:74114714A>C uc001jsz.2 - 0 194 c.44T>G c.(43-45)gTg>gGg p.V15G DNAJB12_uc001jta.2_Missense_Mutation_p.V15G|DNAJB12_uc010qjv.1_Missense_Mutation_p.V15G NM_017626 NP_060096 Q9NXW2 DJB12_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 12 (DNAJB12), transcript variant 2, mRNA. 0 protein folding endoplasmic reticulum|integral to membrane heat shock protein binding|unfolded protein binding p.I14I(1) endometrium(1)|large_intestine(2)|skin(1) 4 GGGCTGCGCCACCCGCCGGCG 0.662000 11 8 0 0 0.000219431 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62850750 62850750 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:62850750G>A uc002jey.2 - 13 5488 c.4872C>T c.(4870-4872)gcC>gcT p.A1624A LRRC37A3_uc010wqg.1_Silent_p.A742A|LRRC37A3_uc002jex.1_Silent_p.A601A|LRRC37A3_uc010wqf.1_Silent_p.A662A NM_199340 NP_955372 O60309 L37A3_HUMAN Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA. 1624 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 CCTCCGTTGGGGCTTCGCTGT 0.488000 132 7 0 0 2.17888e-05 0 0 LYRM1 57149 broad.mit.edu 37 16 20926983 20926983 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:20926983G>A uc010bwj.3 + 1 407 c.106G>A c.(106-108)Gaa>Aaa p.E36K LYRM1_uc010bwi.1_Non-coding_Transcript|LYRM1_uc010bwk.3_Intron|LYRM1_uc002dia.4_Missense_Mutation_p.E36K|LYRM1_uc010bwl.3_Missense_Mutation_p.E36K|LYRM1_uc010bwm.3_Intron|LYRM1_uc002dib.3_Missense_Mutation_p.E36K NM_020424 NP_065157 O43325 LYRM1_HUMAN Homo sapiens LYR motif containing 1 (LYRM1), transcript variant 1, mRNA. 36 nucleus large_intestine(1)|prostate(1) 2 CACCATCAAAGAAAAACAGTA 0.473000 90 6 0 0 3.59834e-05 0 0 CYP2C19 1557 broad.mit.edu 37 10 96522588 96522588 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:96522588C>T uc010qnz.2 + 0 126 c.126C>T c.(124-126)atC>atT p.I42I CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Intron NM_000769 NP_000760 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA. 42 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TTGGAAATATCCTACAGATAG 0.418000 63 7 0 0 0.000157383 0 0 MKX 283078 broad.mit.edu 37 10 28023489 28023489 + Missense_Mutation SNP G C C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:28023489G>C uc001ity.4 - 4 959 c.734C>G c.(733-735)aCa>aGa p.T245R MKX_uc001itx.4_Missense_Mutation_p.T245R NM_173576 NP_775847 Q8IYA7 MKX_HUMAN Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA. 245 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 TCTTTGCCTTGTTTTTCCCAT 0.443000 101 7 0 0 0.000274275 0 0 MST1R 4486 broad.mit.edu 37 3 49932642 49932643 + Missense_Mutation DNP GG TT TT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:49932642_49932643GG>TT uc003cxy.4 - 13 3492_3493 c.3228_3229CC>AA c.(3226-3231)ccccat>ccAAat p.H1077N MST1R_uc011bdc.2_Missense_Mutation_p.H1028N NM_002447 NP_002438 Q04912 RON_HUMAN Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA. 1077 cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) ACCCGCTCATGGGGAATCAGCA 0.579000 256 8 0 0 6.4e-05 0 0 KIAA1958 158405 broad.mit.edu 37 9 115336746 115336746 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr9:115336746C>T uc011lwx.1 + 1 561 c.386C>T c.(385-387)tCt>tTt p.S129F KIAA1958_uc004bgf.1_Missense_Mutation_p.S129F NM_133465 NP_597722 Q8N8K9 K1958_HUMAN Homo sapiens KIAA1958 (KIAA1958), mRNA. 129 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 AGTGAGCCCTCTGAACTGGAT 0.458000 63 11 0 0 0.00010058 0 0 MNAT1 4331 broad.mit.edu 37 14 61201633 61201633 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr14:61201633C>T uc001xfd.3 + 0 175 c.53C>T c.(52-54)tCc>tTc p.S18F MNAT1_uc010apq.2_Missense_Mutation_p.S18F|MNAT1_uc001xfe.3_Missense_Mutation_p.S18F NM_002431 NP_002422 P51948 MAT1_HUMAN Homo sapiens menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis) (MNAT1), transcript variant 1, mRNA. 18 G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell proliferation|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction cytoplasm|holo TFIIH complex protein N-terminus binding|zinc ion binding NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 11 OV - Ovarian serous cystadenocarcinoma(108;0.0174) CGGAACCCCTCCTTGAAGCTG 0.602000 Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER) 84 5 0 0 3.59834e-05 0 0 PRMT2 3275 broad.mit.edu 37 21 48064250 48064250 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr21:48064250C>T uc002zjx.3 + 4 511 c.177C>T c.(175-177)atC>atT p.I59I PRMT2_uc021wkc.1_Silent_p.I59I|PRMT2_uc002zjw.3_Silent_p.I59I|PRMT2_uc002zjy.3_Silent_p.I59I|PRMT2_uc010gqm.3_Silent_p.I59I|PRMT2_uc011aga.2_Silent_p.I59I|PRMT2_uc011agb.2_Silent_p.I59I|PRMT2_uc011agc.2_Silent_p.I59I|PRMT2_uc002zjz.1_5'UTR NM_206962 NP_996845 P55345 ANM2_HUMAN Homo sapiens protein arginine methyltransferase 2 (PRMT2), transcript variant 1, mRNA. 59 SH3. developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway cytosol|nucleus androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 Breast(49;0.247) Lung NSC(3;0.245) Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248) AAATTCTTATCCTGAGACAAA 0.443000 45 12 0 0 0.000219431 0 0 ZNF354C 30832 broad.mit.edu 37 5 178506290 178506290 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:178506290C>T uc003mju.3 + 4 972 c.857C>T c.(856-858)aCc>aTc p.T286I NM_014594 NP_055409 Q86Y25 Z354C_HUMAN Homo sapiens zinc finger protein 354C (ZNF354C), mRNA. 286 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3) 30 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) AACAGTTCAACCCTTATCAAA 0.423000 87 8 0 0 0.000157383 0 0 TBXAS1 6916 broad.mit.edu 37 7 139657492 139657492 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:139657492G>A uc011kqv.2 + 8 1124 c.889G>A c.(889-891)Gaa>Aaa p.E297K TBXAS1_uc003vvh.3_Missense_Mutation_p.E251K|TBXAS1_uc010lne.3_Missense_Mutation_p.E183K|TBXAS1_uc011kqu.2_Missense_Mutation_p.E202K|TBXAS1_uc003vvi.3_Missense_Mutation_p.E251K|TBXAS1_uc011kqw.2_Missense_Mutation_p.E231K|TBXAS1_uc003vvj.3_Missense_Mutation_p.E251K NM_001166253 NP_001159725 P24557 THAS_HUMAN Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA. 250 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) GAACCGAGACGAACTGAATGG 0.438000 66 17 0 0 9.7654e-05 0 0 MYH1 4619 broad.mit.edu 37 17 10404762 10404762 + Missense_Mutation SNP T C C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:10404762T>C uc002gmo.3 - 26 3497 c.3403A>G c.(3403-3405)Aaa>Gaa p.K1135E AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1135 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TTCTCTGCTTTGGCCCGGGAG 0.572000 45 6 0 0 3.59834e-05 0 0 ALS2 57679 broad.mit.edu 37 2 202588100 202588101 + Missense_Mutation DNP GG TT TT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:202588100_202588101GG>TT uc002uyo.3 - 21 3932_3933 c.3576_3577CC>AA c.(3574-3579)acccag>acAAag p.Q1193K ALS2_uc002uyp.4_Missense_Mutation_p.Q1193K|ALS2_uc010ftl.3_Non-coding_Transcript NM_020919 NP_065970 Q96Q42 ALS2_HUMAN Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA. 1193 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 AATCCAAACTGGGTAACCACCA 0.381000 148 7 0 0 6.4e-05 0 0 PHGDH 26227 broad.mit.edu 37 1 120277263 120277264 + Missense_Mutation DNP GG TT TT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:120277263_120277264GG>TT uc001ehz.3 + 5 744_745 c.517_518GG>TT c.(517-519)ggg>TTg p.G173L PHGDH_uc009whl.3_Missense_Mutation_p.G75L|PHGDH_uc009whm.3_Missense_Mutation_p.G71L|PHGDH_uc001eib.3_Missense_Mutation_p.G139L NM_006623 NP_006614 O43175 SERA_HUMAN Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA. 173 L-serine biosynthetic process|brain development NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 18 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) CCAGACTATAGGGTATGACCCC 0.446000 385 10 0 0 6.4e-05 0 0 SOAT1 6646 broad.mit.edu 37 1 179310230 179310230 + Missense_Mutation SNP T C C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:179310230T>C uc001gml.3 + 6 796 c.565T>C c.(565-567)Tgg>Cgg p.W189R SOAT1_uc010pni.2_Missense_Mutation_p.W124R|SOAT1_uc001gmm.3_Missense_Mutation_p.W131R|SOAT1_uc010pnj.2_5'UTR|SOAT1_uc010pnk.2_Missense_Mutation_p.W124R NM_003101 NP_003092 P35610 SOAT1_HUMAN Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 189 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) TTGGACCTGGTGGATCATGTT 0.448000 77 15 0 0 0.000219431 0 0 NCAPD3 23310 broad.mit.edu 37 11 134076553 134076553 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:134076553G>A uc001qhd.1 - 7 1563 c.957C>T c.(955-957)gcC>gcT p.A319A NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript NM_015261 NP_056076 P42695 CNDD3_HUMAN Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA. 319 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) CAGCAAGGGGGGCACGATGGG 0.423000 81 18 0 0 7.07596e-05 0 0 ZMYM6 9204 broad.mit.edu 37 1 35452992 35452992 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:35452992C>T uc001byh.3 - 15 3919 c.3691G>A c.(3691-3693)Gaa>Aaa p.E1231K LOC653160_uc001byd.4_5'Flank|ZMYM6NB_uc001bye.3_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc021olg.1_Missense_Mutation_p.E544K|ZMYM6_uc010oht.2_Missense_Mutation_p.E1134K NM_007167 NP_009098 O95789 ZMYM6_HUMAN Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA. 1231 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) TTTTCTTCTTCGAAGTCGGTG 0.353000 67 18 0 0 9.7654e-05 0 0 IQCG 84223 broad.mit.edu 37 3 197670848 197670848 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:197670848G>A uc003fyo.3 - 2 229 c.83C>T c.(82-84)cCa>cTa p.P28L IQCG_uc003fyp.3_Missense_Mutation_p.P28L|IQCG_uc003fyq.4_Missense_Mutation_p.P28L NM_001134435 NP_115639 Q9H095 IQCG_HUMAN Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA. 28 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) GGTACTAGGTGGTTCGCCTGT 0.433000 147 31 0 0 0.000279167 0 0 RBM12 10137 broad.mit.edu 37 20 34241050 34241050 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:34241050G>A uc021wcr.1 - 0 2195 c.2195C>T c.(2194-2196)gCc>gTc p.A732V CPNE1_uc010zvj.2_Intron|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Missense_Mutation_p.A732V|RBM12_uc002xds.3_Missense_Mutation_p.A732V|RBM12_uc002xdr.3_Missense_Mutation_p.A732V|RBM12_uc021wcq.1_Missense_Mutation_p.A732V NM_152838 NP_690051 Q9NTZ6 RBM12_HUMAN Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA. 732 Gly-rich.|Pro-rich. nucleus RNA binding|nucleotide binding|protein binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) TGGCCCAAAGGCATTTGATCC 0.507000 122 22 0 0 0.000375601 0 0 TTN 7273 broad.mit.edu 37 2 179577951 179577951 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:179577951C>T uc021vsy.1 - 89 23403 c.23178G>A c.(23176-23178)agG>agA p.R7726R TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.R4387R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 8653 Ig-like 59. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTGGTATTTCCTTCCACTAC 0.438000 23 9 0 0 0.000274275 0 0 NBEAL1 65065 broad.mit.edu 37 2 204037503 204037504 + Missense_Mutation DNP CC AA AA TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:204037503_204037504CC>AA uc002uzt.3 + 39 6496_6497 c.6163_6164CC>AA c.(6163-6165)cct>AAt p.P2055N NBEAL1_uc021vvj.1_Missense_Mutation_p.P758N NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA. 2055 BEACH. binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CCTTAATAACCCTGCTGTATTT 0.342000 457 11 0 0 6.4e-05 0 0 HHLA3 11147 broad.mit.edu 37 1 70832184 70832184 + Missense_Mutation SNP T C C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:70832184T>C uc001dfc.3 + 1 360 c.218T>C c.(217-219)cTt>cCt p.L73P HHLA3_uc010oqp.2_Non-coding_Transcript|HHLA3_uc001dfb.3_Silent_p.L72L|HHLA3_uc001dfa.3_Silent_p.S105S NM_001031693 NP_001026863 Q9XRX5 HHLA3_HUMAN Homo sapiens HERV-H LTR-associating 3 (HHLA3), transcript variant 1, mRNA. 0 protein binding large_intestine(3)|lung(1) 4 cttggatctcttgcaagaaag 0.383000 12 3 0 0 6.4e-05 0 0 PLCL1 5334 broad.mit.edu 37 2 198949115 198949115 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:198949115G>A uc010fsp.3 + 1 1272 c.874G>A c.(874-876)Gaa>Aaa p.E292K PLCL1_uc002uuv.4_Missense_Mutation_p.E213K NM_006226 NP_006217 Q15111 PLCL1_HUMAN Homo sapiens phospholipase C-like 1 (PLCL1), mRNA. 292 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.D292H(1)|p.F291C(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) GAAGAGCAAGGAAAAACTAAC 0.393000 63 23 0 0 7.16444e-05 0 0 KCTD5 54442 broad.mit.edu 37 16 2732753 2732753 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:2732753C>T uc002crd.3 + 0 259 c.204C>T c.(202-204)tcC>tcT p.S68S NM_018992 NP_061865 Q9NXV2 KCTD5_HUMAN Homo sapiens potassium channel tetramerisation domain containing 5 (KCTD5), mRNA. 68 BTB. interspecies interaction between organisms cytosol|nucleus|voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity haematopoietic_and_lymphoid_tissue(1)|lung(1) 2 ACCCGAAATCCTTCCTGTACC 0.682000 68 5 0 0 3.59834e-05 0 0 RNF6 6049 broad.mit.edu 37 13 26789559 26789559 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr13:26789559G>A uc001uqo.3 - 4 805 c.460C>T c.(460-462)Cac>Tac p.H154Y RNF6_uc001uqn.1_Intron|RNF6_uc001uqp.3_Missense_Mutation_p.H154Y|RNF6_uc001uqq.3_Missense_Mutation_p.H154Y|RNF6_uc010tdk.2_Intron NM_183044 NP_898865 Q9Y252 RNF6_HUMAN Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 3, mRNA. 154 negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process PML body|axon|cytoplasm androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2) 23 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) TGATTTACGTGGATTTCCAAA 0.388000 91 24 0 0 7.16444e-05 0 0 RP1 6101 broad.mit.edu 37 8 55537765 55537765 + Missense_Mutation SNP A C C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:55537765A>C uc003xsd.1 + 3 1471 c.1323A>C c.(1321-1323)caA>caC p.Q441H RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 441 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CTCAAGACCAAGCAAAGCATC 0.433000 85 19 0 0 0.000175454 0 0 EPG5 57724 broad.mit.edu 37 18 43535055 43535055 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr18:43535055C>T uc002lbm.3 - 1 413 c.313G>A c.(313-315)Gaa>Aaa p.E105K EPG5_uc002lbo.1_Missense_Mutation_p.E105K NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA. 105 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 TCTCCCCCTTCCTTTGGGGGC 0.498000 59 15 0 0 0.000422831 0 0 ANTXR1 84168 broad.mit.edu 37 2 69271912 69271912 + Missense_Mutation SNP G A A rs141240644 byFrequency TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:69271912G>A uc002sfg.3 + 2 619 c.263G>A c.(262-264)cGa>cAa p.R88Q ANTXR1_uc002sfe.3_Missense_Mutation_p.R88Q|ANTXR1_uc002sff.3_Missense_Mutation_p.R88Q|ANTXR1_uc002sfd.2_Missense_Mutation_p.R88Q NM_032208 NP_115584 Q9H6X2 ANTR1_HUMAN Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA. 88 VWFA. actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity p.R88R(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 TTCTCCACCCGAGGAACAACC 0.433000 Familial Infantile Hemangioma 74 8 0 0 0.000274275 0 0 ZNF347 84671 broad.mit.edu 37 19 53644814 53644814 + Missense_Mutation SNP G T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:53644814G>T uc002qbc.2 - 4 1697 c.1270C>A c.(1270-1272)Cac>Aac p.H424N ZNF347_uc002qbb.2_Missense_Mutation_p.H423N|ZNF347_uc010eql.2_Missense_Mutation_p.H424N NM_001172674 NP_001166146 Q96SE7 ZN347_HUMAN Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA. 423 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) TCTCCAGTGTGAATTCTCCAG 0.428000 129 9 4.68919e-08 1.27339e-06 3.86212e-05 1 0 PAK4 10298 broad.mit.edu 37 19 39667342 39667342 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:39667342C>T uc002okj.1 + 8 1933 c.1472C>T c.(1471-1473)cCc>cTc p.P491L PAK4_uc002okl.1_Missense_Mutation_p.P491L|PAK4_uc002okn.1_Missense_Mutation_p.P491L|PAK4_uc002okm.1_Missense_Mutation_p.P338L|PAK4_uc002oko.1_Missense_Mutation_p.P338L|PAK4_uc002okp.1_Missense_Mutation_p.P401L NM_001014831 NP_005875 O96013 PAK4_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA. 491 Protein kinase. cellular component movement|signal transduction Golgi apparatus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 13 all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454) Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113) TCCCGCCTTCCCTACGGGCCA 0.667000 80 7 0 0 0.000157383 0 0 VPS13D 55187 broad.mit.edu 37 1 12339581 12339581 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:12339581C>T uc001atv.3 + 19 4617 c.4476C>T c.(4474-4476)acC>acT p.T1492T VPS13D_uc001atw.3_Silent_p.T1492T|VPS13D_uc001atx.3_Silent_p.T680T NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 1492 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ACAACACCACCATTCAGTTTA 0.363000 50 11 0 0 6.40141e-05 0 0 GDF5 8200 broad.mit.edu 37 20 34022051 34022052 + Nonsense_Mutation DNP GG AA AA TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:34022051_34022052GG>AA uc010gfc.1 - 1 1402_1403 c.1161_1162CC>TT c.(1159-1164)cgccag>cgTTag p.Q388* GDF5OS_uc002xcj.3_Missense_Mutation_p.A155T|GDF5_uc002xck.1_Nonsense_Mutation_p.Q388* NM_000557 NP_000548 P43026 GDF5_HUMAN Homo sapiens growth differentiation factor 5 (GDF5), mRNA. 388 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity p.R387H(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) CGCTTGCCCTGGCGAGTGGCCA 0.584000 174 17 0 0 6.4e-05 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140176125 140176125 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:140176125G>A uc003lhd.2 + 0 1682 c.1576G>A c.(1576-1578)Gag>Aag p.E526K PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E526K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E526K NM_018905 NP_061728 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA. 540 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGACCACGAGGAAGTGGA 0.687000 97 6 0 0 8.12818e-05 0 0 VPS13D 55187 broad.mit.edu 37 1 12336754 12336754 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:12336754G>A uc001atv.3 + 18 3250 c.3109G>A c.(3109-3111)Gat>Aat p.D1037N VPS13D_uc001atw.3_Missense_Mutation_p.D1037N|VPS13D_uc001atx.3_Missense_Mutation_p.D225N NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 1037 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AAGCCTTCGGGATAGCAGGGC 0.488000 OREG0013110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 8 0 0 0.000274275 0 0 DNTTIP2 30836 broad.mit.edu 37 1 94337640 94337641 + Missense_Mutation DNP GG TT TT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:94337640_94337641GG>TT uc001dqf.3 - 4 2112_2113 c.2054_2055CC>AA c.(2053-2055)ccc>cAA p.P685Q DNTTIP2_uc010otm.2_Non-coding_Transcript NM_014597 NP_055412 Q5QJE6 TDIF2_HUMAN Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 2 (DNTTIP2), mRNA. 685 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) GGAAGTACTTGGGGAAGCCATC 0.366000 373 9 0 0 6.4e-05 0 0 PSG8 440533 broad.mit.edu 37 19 43259419 43259419 + Splice_Site SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:43259419C>T uc002ouo.2 - 4 808 c.710_splice c.e4-1 p.P237_splice PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Splice_Site_p.P237_splice|PSG8_uc010ein.3_Splice_Site_p.P115_splice|PSG3_uc002oun.3_Intron NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA. 237 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GGCAGCTTCGCTGTGTGGATA 0.483000 178 35 0 0 8.96297e-05 0 0 GRXCR1 389207 broad.mit.edu 37 4 42895338 42895338 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr4:42895338C>T uc003gwt.3 + 0 56 c.55C>T c.(55-57)Cgg>Tgg p.R19W NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA. 19 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 AGTCCGGTTTCGGATCGCGTC 0.512000 78 9 0 0 2.17888e-05 0 0 PSD2 84249 broad.mit.edu 37 5 139216804 139216804 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:139216804C>T uc003leu.1 + 10 1851 c.1646C>T c.(1645-1647)aCc>aTc p.T549I NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA. 549 PH. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCAAAGGGACCATCCTGTAC 0.627000 77 6 0 0 8.12818e-05 0 0 ZNF532 55205 broad.mit.edu 37 18 56648784 56648784 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr18:56648784C>T uc010xeg.2 + 8 3543 c.3346C>T c.(3346-3348)Cct>Tct p.P1116S ZNF532_uc002lhp.3_Missense_Mutation_p.P1114S|ZNF532_uc002lho.3_Missense_Mutation_p.P1116S|ZNF532_uc002lhr.3_Missense_Mutation_p.P1114S|ZNF532_uc002lhs.3_Missense_Mutation_p.P1114S|ZNF532_uc010xeh.2_Missense_Mutation_p.P204S NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN Homo sapiens zinc finger protein 532 (ZNF532), mRNA. 1116 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 CATCAAGGACCCTGACCTGAA 0.463000 70 16 0 0 0.000308642 0 0 PPP4R1 9989 broad.mit.edu 37 18 9570421 9570421 + Missense_Mutation SNP G T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr18:9570421G>T uc002koe.1 - 10 1425 c.1307C>A c.(1306-1308)cCa>cAa p.P436Q PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Missense_Mutation_p.P282Q|PPP4R1_uc002kod.1_Missense_Mutation_p.P419Q|PPP4R1_uc010wzp.1_Non-coding_Transcript NM_001042388 NP_001035847 Q8TF05 PP4R1_HUMAN Homo sapiens protein phosphatase 4, regulatory subunit 1 (PPP4R1), transcript variant 1, mRNA. 436 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 GCCAACCTCTGGTCGTAACAT 0.408000 100 22 4.26978e-12 1.17167e-10 5.49717e-05 1 0 TULP4 56995 broad.mit.edu 37 6 158923497 158923497 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:158923497C>T uc003qrf.3 + 12 4159 c.2802C>T c.(2800-2802)gtC>gtT p.V934V TULP4_uc003qrg.3_Intron NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA. 934 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) AGAAGAAGGTCCCTCAGCCCT 0.677000 51 9 0 0 2.17888e-05 0 0 AADACL4 343066 broad.mit.edu 37 1 12726223 12726223 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:12726223C>T uc001auf.3 + 3 701 c.701C>T c.(700-702)tCc>tTc p.S234F NM_001013630 NP_001013652 Q5VUY2 ADCL4_HUMAN Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA. 234 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) CAGTTGCCATCCTTTCAGCAG 0.522000 162 16 0 0 0.000175454 0 0 DENND2A 27147 broad.mit.edu 37 7 140301361 140301361 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:140301361C>T uc010lnk.3 - 2 1357 c.837G>A c.(835-837)ggG>ggA p.G279G DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Silent_p.G279G|DENND2A_uc003vvw.3_Silent_p.G279G|DENND2A_uc003vvx.3_Silent_p.G279G NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA. 279 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) CATCTTTGTCCCCTTCTCCGG 0.582000 135 42 0 0 0.000147903 0 0 ACTC1 70 broad.mit.edu 37 15 35083487 35083487 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr15:35083487G>A uc001ziu.1 - 5 1061 c.818C>T c.(817-819)tCt>tTt p.S273F AK092087_uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA. 273 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly I band|actomyosin, actin part|cytosol ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) GATGCCAGCAGATTCCATACC 0.468000 82 12 0 0 6.40141e-05 0 0 OR2A5 393046 broad.mit.edu 37 7 143747706 143747706 + Missense_Mutation SNP C T T rs149614119 by1000genomes TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:143747706C>T uc011ktw.2 + 0 212 c.212C>T c.(211-213)tCg>tTg p.S71L NM_012365 NP_036497 Q96R48 OR2A5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA. 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S71L(2) cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) ATTGATATTTCGTATGCTTCC 0.483000 65 22 0 0 0.000229342 0 0 CIITA 4261 broad.mit.edu 37 16 11000685 11000685 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:11000685G>A uc002daj.4 + 10 1472 c.1339G>A c.(1339-1341)Gac>Aac p.D447N CIITA_uc002dai.4_Missense_Mutation_p.D446N|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Missense_Mutation_p.D446N|CIITA_uc002dah.2_Missense_Mutation_p.D398N|CIITA_uc010bup.1_Intron NM_000246 NP_000237 P33076 C2TA_HUMAN Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA. 446 NACHT. interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 TCCCCAGTACGACTTTGTCTT 0.627000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 81 19 0 0 7.07596e-05 0 0 ESYT3 83850 broad.mit.edu 37 3 138191502 138191503 + Missense_Mutation DNP GG TT TT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:138191502_138191503GG>TT uc003esk.3 + 17 2264_2265 c.2038_2039GG>TT c.(2038-2040)ggg>TTg p.G680L ESYT3_uc010hug.2_Non-coding_Transcript NM_031913 NP_114119 A0FGR9 ESYT3_HUMAN Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA. 680 integral to membrane|plasma membrane p.G680R(2) breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 TGAGCCCATCGGGGAGAAGAAG 0.594000 296 10 0 0 6.4e-05 0 0 CRHBP 1393 broad.mit.edu 37 5 76254644 76254645 + Nonsense_Mutation DNP CC AA AA TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:76254644_76254645CC>AA uc003ker.3 + 4 903_904 c.623_624CC>AA c.(622-624)tcc>tAA p.S208* CRHBP_uc010izx.3_Nonsense_Mutation_p.S208* NM_001882 NP_001873 P24387 CRHBP_HUMAN Homo sapiens corticotropin releasing hormone binding protein (CRHBP), mRNA. 208 female pregnancy|learning or memory|signal transduction soluble fraction kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) TGCAGCTTCTCCATAATTTATC 0.396000 613 12 0 0 6.4e-05 0 0 JAG1 182 broad.mit.edu 37 20 10639139 10639139 + Nonsense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:10639139C>T uc002wnw.2 - 3 1187 c.671G>A c.(670-672)tGg>tAg p.W224* NM_000214 NP_000205 P78504 JAG1_HUMAN Homo sapiens jagged 1 (JAG1), mRNA. 224 DSL. W -> C (in ALGS1). Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane Notch binding|calcium ion binding|growth factor activity|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 GGGGCCCATCCAGCCTTCCAT 0.507000 Alagille Syndrome 84 13 0 0 0.000219431 0 0 DNAH11 8701 broad.mit.edu 37 7 21745129 21745129 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:21745129G>A uc003svc.3 + 39 6572 c.6541G>A c.(6541-6543)Gga>Aga p.G2181R NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 2181 AAA 2 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CTTTGTAGTTGGAAATGCAGG 0.448000 Kartagener syndrome 58 9 0 0 3.86212e-05 0 0 ITGA2B 3674 broad.mit.edu 37 17 42458255 42458256 + Nonsense_Mutation DNP CC TA TA TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:42458255_42458256CC>TA uc002igt.1 - 12 1416_1417 c.1384_1385GG>TA c.(1384-1386)gga>TAa p.G462* ITGA2B_uc002igu.1_5'UTR NM_000419 NP_000410 P08514 ITA2B_HUMAN Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA. 462 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) ACCTGGGTATCCGTTGTCATCG 0.614000 104 11 0 0 6.4e-05 0 0 MFSD7 84179 broad.mit.edu 37 4 680340 680340 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr4:680340G>A uc003gay.3 - 1 332 c.275C>T c.(274-276)tCc>tTc p.S92F MFSD7_uc003gaw.3_5'Flank|MFSD7_uc003gax.3_Missense_Mutation_p.S92F|MFSD7_uc003gaz.3_Missense_Mutation_p.S70F NM_032219 NP_115595 Q6UXD7 MFSD7_HUMAN Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA. 92 transmembrane transport integral to membrane cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 11 GAGCCCGACGGAGTCCAGGAT 0.647000 43 19 0 0 0.000132079 0 0 KRTAP10-4 386672 broad.mit.edu 37 21 45994463 45994464 + Nonsense_Mutation DNP CA AG AG TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr21:45994463_45994464CA>AG uc002zfk.1 + 0 858_859 c.828_829CA>AG c.(826-831)tgcaag>tgAGag p.276_277CK>*E TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198687 NP_941960 P60372 KR104_HUMAN Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA. 276 36 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 CTGTCTGCTGCAAGCCTGTGTG 0.624000 78 11 0 0 6.4e-05 0 0 KSR2 283455 broad.mit.edu 37 12 117964911 117964911 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:117964911G>A uc001two.2 - 12 1784 c.1729C>T c.(1729-1731)Cca>Tca p.P577S NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 606 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGAAGTAATGGATTTCCTTCC 0.438000 181 33 0 0 0.000228196 0 0 PRB4 5545 broad.mit.edu 37 12 11461723 11461723 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:11461723C>T uc001qzf.1 - 2 228 c.194G>A c.(193-195)gGa>gAa p.G65E PRB4_uc001qzt.3_Missense_Mutation_p.G65E NM_002723 NP_002714 P10163 PRB4_HUMAN Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA. 65 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 GGACTGGTTTCCTCCTTGTGG 0.622000 HNSCC(22;0.051) 229 17 0 0 9.7654e-05 0 0 TTLL7 79739 broad.mit.edu 37 1 84408284 84408284 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:84408284G>A uc001djc.3 - 6 981 c.585C>T c.(583-585)ttC>ttT p.F195F TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Intron|TTLL7_uc001djf.3_Intron|TTLL7_uc001djg.3_Non-coding_Transcript NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA. 195 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) CTTCCATTAGGAAAGGCTTTT 0.328000 55 8 0 0 0.000274275 0 0 SBNO1 55206 broad.mit.edu 37 12 123810134 123810134 + Missense_Mutation SNP C A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:123810134C>A uc010tap.2 - 13 1888 c.1888G>T c.(1888-1890)Ggt>Tgt p.G630C SBNO1_uc010tao.2_Missense_Mutation_p.G629C|SBNO1_uc010taq.2_Intron|SBNO1_uc001ueu.2_Missense_Mutation_p.G629C|SBNO1_uc001uet.2_Missense_Mutation_p.G630C|SBNO1_uc001uev.2_Missense_Mutation_p.G628C|SBNO1_uc009zxy.1_Missense_Mutation_p.G595C NM_001167856 NP_001161328 A3KN83 SBNO1_HUMAN Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA. 630 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) GACTGCAGACCAATTACAACA 0.343000 291 9 0.00010058 0.00267573 0.00010058 1 0 SCN10A 6336 broad.mit.edu 37 3 38805058 38805058 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:38805058C>T uc003ciq.3 - 4 629 c.629G>A c.(628-630)gGg>gAg p.G210E NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 210 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GCCTGAGATCCCACGGAGATC 0.453000 85 5 0 0 1.23904e-05 0 0 C1orf172 126695 broad.mit.edu 37 1 27278365 27278365 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:27278365G>A uc001bni.2 - 1 600 c.507C>T c.(505-507)atC>atT p.I169I BC016143_uc021ojq.1_Intron NM_152365 NP_689578 Q8NAX2 CA172_HUMAN Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA. 169 NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) GATACACAGGGATGCCTTTGA 0.657000 51 6 0 0 8.12818e-05 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33956858 33956858 + Missense_Mutation SNP T A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:33956858T>A uc001bxj.4 + 5 1167 c.1000T>A c.(1000-1002)Ttc>Atc p.F334I ZSCAN20_uc001bxk.2_Missense_Mutation_p.F280I|ZSCAN20_uc009vui.3_Missense_Mutation_p.F334I NM_145238 NP_660281 P17040 ZSC20_HUMAN Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA. 334 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T333N(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GACCAAGACTTTCCTGGCAAT 0.522000 81 7 0 0 8.12818e-05 0 0 LRP6 4040 broad.mit.edu 37 12 12317469 12317470 + Missense_Mutation DNP CC AA AA TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:12317469_12317470CC>AA uc001rah.4 - 8 1931_1932 c.1789_1790GG>TT c.(1789-1791)ggg>TTg p.G597L BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.G597L NM_002336 NP_002327 O75581 LRP6_HUMAN Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA. 597 EGF-like 2. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity p.G597W(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) GCTACATCCCCCGTTTTCCTCA 0.441000 337 11 0 0 6.4e-05 0 0 TRIM25 7706 broad.mit.edu 37 17 54978892 54978893 + Missense_Mutation DNP GG TT TT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:54978892_54978893GG>TT uc002iut.3 - 3 1034_1035 c.974_975CC>AA c.(973-975)ccc>cAA p.P325Q TRIM25_uc010dcj.3_Missense_Mutation_p.P117Q NM_005082 NP_005073 Q14258 TRI25_HUMAN Homo sapiens tripartite motif containing 25 (TRIM25), mRNA. 325 Interaction with influenza A virus NS1. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding p.P325H(2) breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(9;6.15e-08) GTTCCACCTCGGGGATGTAGAC 0.550000 345 14 0 0 6.4e-05 0 0 APOB 338 broad.mit.edu 37 2 21233505 21233505 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:21233505C>T uc002red.3 - 25 6363 c.6235G>A c.(6235-6237)Gaa>Aaa p.E2079K NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 2079 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCAAAATATTCTTGCAAGGTC 0.343000 556 53 0 0 0.000147903 0 0 AVPR1B 553 broad.mit.edu 37 1 206225076 206225076 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:206225076G>A uc001hds.2 + 0 794 c.636G>A c.(634-636)gtG>gtA p.V212V NM_000707 NP_000698 P47901 V1BR_HUMAN Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA. 212 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) TTCTGCCGGTGACCATGCTCA 0.617000 67 14 0 0 0.000308642 0 0 LRP2 4036 broad.mit.edu 37 2 170009450 170009450 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:170009450C>T uc002ues.3 - 66 12533 c.12320G>A c.(12319-12321)gGg>gAg p.G4107E NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 4107 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AGAGCCCTCCCCTCGCACAGT 0.468000 126 34 0 0 0.000109025 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140208960 140208960 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:140208960G>A uc003lho.2 + 0 1311 c.1284G>A c.(1282-1284)cgG>cgA p.R428R PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Silent_p.R428R|PCDHAC2_uc011dab.2_Silent_p.R428R NM_018909 NP_061732 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA. 442 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAACCGCGCGGGACGGGGGCT 0.622000 146 9 0 0 2.17888e-05 0 0 PXDNL 137902 broad.mit.edu 37 8 52320686 52320686 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:52320686C>T uc003xqu.4 - 16 3599 c.3498G>A c.(3496-3498)aaG>aaA p.K1166K PXDNL_uc003xqt.4_Non-coding_Transcript NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 1166 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CCTCAAAGTTCTTAACTGAAG 0.398000 79 11 0 0 3.86212e-05 0 0 C20orf151 140893 broad.mit.edu 37 20 60989120 60989120 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:60989120C>T uc002ycw.2 - 9 1484 c.1287G>A c.(1285-1287)gaG>gaA p.E429E NM_080833 NP_543023 Q8NC74 CT151_HUMAN Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA. 429 large_intestine(3)|lung(3)|prostate(1)|skin(4)|stomach(1) 12 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;6.43e-06) TGGCTGCAGCCTCTGTCCTCT 0.726000 8 3 0 0 0.00024832 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554096 140554096 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:140554096C>T uc003lit.3 + 0 1854 c.1680C>T c.(1678-1680)ttC>ttT p.F560F NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 560 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P559H(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTCGCCCTTCGTGCTGTACC 0.726000 55 7 0 0 8.12818e-05 0 0 NEK10 152110 broad.mit.edu 37 3 27173431 27173431 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:27173431G>A uc010hfk.3 - 12 1357 c.1128C>T c.(1126-1128)ttC>ttT p.F376F NEK10_uc010hfj.3_Silent_p.F319F Q6ZWH5 NEK10_HUMAN Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA. 1064 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 GGGATTTCTTGAATCTCTCTA 0.323000 81 6 0 0 8.12818e-05 0 0 LETM2 137994 broad.mit.edu 37 8 38264880 38264880 + Splice_Site SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:38264880G>A uc003xlm.2 + 10 1403 c.1171_splice c.e10-1 p.D391_splice LETM2_uc003xll.2_Splice_Site_p.D343_splice|LETM2_uc003xln.2_Splice_Site_p.D235_splice|LETM2_uc003xlo.2_Splice_Site_p.D235_splice NM_001199659 NP_001186588 Q2VYF4 LETM2_HUMAN Homo sapiens leucine zipper-EF-hand containing transmembrane protein 2 (LETM2), transcript variant 1, mRNA. 438 integral to membrane|mitochondrial inner membrane NS(1)|large_intestine(1)|lung(3)|prostate(2) 7 all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202) all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175) Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114) GATGTTTAAGGATGAAGACTT 0.398000 60 5 0 0 1.23904e-05 0 0 ADAM22 53616 broad.mit.edu 37 7 87759752 87759752 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:87759752C>T uc003ujn.3 + 9 1018 c.803C>T c.(802-804)tCt>tTt p.S268F ADAM22_uc003ujj.2_Missense_Mutation_p.S268F|ADAM22_uc003ujk.2_Missense_Mutation_p.S268F|ADAM22_uc003ujl.2_Missense_Mutation_p.S268F|ADAM22_uc003ujm.3_Missense_Mutation_p.S268F|ADAM22_uc003ujo.3_Missense_Mutation_p.S268F|ADAM22_uc003ujp.1_Missense_Mutation_p.S320F NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA. 268 Peptidase M12B. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) TATGCGAAATCTGTGGTGAAC 0.348000 99 5 0 0 3.59834e-05 0 0 CYP2C8 1558 broad.mit.edu 37 10 96829127 96829127 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:96829127G>A uc001kkb.3 - 0 128 c.33C>T c.(31-33)ctC>ctT p.L11L CYP2C8_uc010qoa.2_5'UTR|CYP2C8_uc010qoc.2_5'UTR|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_5'UTR|CYP2C8_uc021pwl.1_5'UTR|CYP2C8_uc010qod.1_5'UTR NM_000770 NP_000761 P10632 CP2C8_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA. 11 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) GCATAAAAGAGAGACACAGCA 0.453000 45 5 0 0 1.23904e-05 0 0 PCLO 27445 broad.mit.edu 37 7 82582495 82582495 + Missense_Mutation SNP G T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:82582495G>T uc003uhx.2 - 4 8063 c.7774C>A c.(7774-7776)Cca>Aca p.P2592T PCLO_uc003uhv.2_Missense_Mutation_p.P2592T|PCLO_uc010lec.3_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 2523 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GAATCTGTTGGAGTCCCTGGT 0.453000 195 12 1.36491e-13 3.7553e-12 0.000151284 1 0 FAM19A2 338811 broad.mit.edu 37 12 62147450 62147450 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:62147450G>A uc001sqw.3 - 3 1919 c.337C>T c.(337-339)Cgg>Tgg p.R113W FAM19A2_uc001sqv.3_Non-coding_Transcript|FAM19A2_uc001sqx.3_Missense_Mutation_p.R113W|FAM19A2_uc001sqy.3_Non-coding_Transcript NM_178539 NP_848634 Q8N3H0 F19A2_HUMAN Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 (FAM19A2), mRNA. 113 cytoplasm p.R113W(2)|p.D112Y(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 15 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) CATCCTTTCCGATCCGGAAGA 0.408000 73 7 0 0 8.12818e-05 0 0 CSNK1A1 1452 broad.mit.edu 37 5 148930447 148930448 + Missense_Mutation DNP GG AA AA rs112881076 by1000genomes TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:148930447_148930448GG>AA uc003lqw.1 - 0 560_561 c.80_81CC>TT c.(79-81)tcc>tTT p.S27F CSNK1A1_uc011dcc.2_5'Flank|CSNK1A1_uc003lqx.1_Missense_Mutation_p.S27F|CSNK1A1_uc003lqy.1_Missense_Mutation_p.S27F|CSNK1A1_uc010jha.1_Missense_Mutation_p.S27F NM_001025105 NP_001020276 P48729 KC1A_HUMAN Homo sapiens casein kinase 1, alpha 1 (CSNK1A1), transcript variant 1, mRNA. 27 Protein kinase. Wnt receptor signaling pathway|cell division|mitosis centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) TGTCCCCGAAGGAGCCAGACCC 0.535000 56 13 0 0 6.4e-05 0 0 PDE6G 5148 broad.mit.edu 37 17 79618115 79618115 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:79618115C>T uc002kay.3 - 3 397 c.253G>A c.(253-255)Ggc>Agc p.G85S PDE6G_uc002kaz.3_Non-coding_Transcript NM_002602 NP_002593 P18545 CNRG_HUMAN Homo sapiens phosphodiesterase 6G, cGMP-specific, rod, gamma (PDE6G), transcript variant 1, mRNA. 85 platelet activation|visual perception cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity lung(2)|urinary_tract(1) 3 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TAGATGATGCCATATTGGGCC 0.592000 73 6 0 0 3.59834e-05 0 0 AMBRA1 55626 broad.mit.edu 37 11 46569818 46569819 + Missense_Mutation DNP CG AT AT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:46569818_46569819CG>AT uc001ncv.2 - 1 426_427 c.112_113CG>AT c.(112-114)cgg>ATg p.R38M AMBRA1_uc009ylc.1_Missense_Mutation_p.R38M|AMBRA1_uc001ncu.1_Missense_Mutation_p.R38M|AMBRA1_uc010rgu.1_Missense_Mutation_p.R38M|AMBRA1_uc001ncw.2_Missense_Mutation_p.R38M|AMBRA1_uc001ncx.2_Missense_Mutation_p.R38M NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA. 38 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle p.R38Q(3) NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) TTTCATCCACCGGGTTTTATCT 0.515000 330 8 0 0 6.4e-05 0 0 SKIV2L 6499 broad.mit.edu 37 6 31937189 31937189 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:31937189C>T uc003nyn.1 + 26 3921 c.3532C>T c.(3532-3534)Cgg>Tgg p.R1178W SKIV2L_uc011dou.1_Missense_Mutation_p.R1020W|SKIV2L_uc011dov.1_Missense_Mutation_p.R985W|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank NM_006929 NP_008860 Q15477 SKIV2_HUMAN Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA. 1178 nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding p.R1178W(1) breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 TGAGTGGGCCCGGGGCATGGT 0.577000 268 63 0 0 0.000147903 0 0 NSUN3 63899 broad.mit.edu 37 3 93781856 93781856 + Splice_Site SNP A C C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:93781856A>C uc003drl.1 + 1 1 c.-115_splice c.e1-1 DHFRL1_uc003dri.3_5'Flank|DHFRL1_uc003drj.3_5'UTR|DHFRL1_uc021xbk.1_5'Flank|NSUN3_uc003drk.3_Splice_Site NM_022072 NP_071355 Q9H649 NSUN3_HUMAN Homo sapiens NOP2/Sun domain family, member 3 (NSUN3), mRNA. methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 18 AGGAAACGTGAGAATGAAAGT 0.473000 22 3 0 0 6.4e-05 0 0 FGFR2 2263 broad.mit.edu 37 10 123239526 123239526 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:123239526C>T uc021pzz.1 - 17 2958 c.2311G>A c.(2311-2313)Gac>Aac p.D771N FGFR2_uc021pzv.1_Missense_Mutation_p.D659N|FGFR2_uc021pzw.1_Missense_Mutation_p.D656N|FGFR2_uc021pzx.1_Intron|FGFR2_uc021pzy.1_Missense_Mutation_p.D772N|FGFR2_uc010qtl.2_Missense_Mutation_p.D655N|FGFR2_uc010qtm.2_Missense_Mutation_p.D654N|FGFR2_uc001lfg.4_Missense_Mutation_p.D379N|FGFR2_uc001lfk.1_Non-coding_Transcript NM_000141 NP_000132 P21802 FGFR2_HUMAN Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA. 771 angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding p.L770V(1) breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) TGGCTGAGGTCCAAGTATTCC 0.448000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 109 14 0 0 0.000422831 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120938 38120938 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr22:38120938G>A uc003atr.3 + 6 2646 c.2375G>A c.(2374-2376)aGa>aAa p.R792K TRIOBP_uc003atu.3_Missense_Mutation_p.R620K|TRIOBP_uc003atq.1_Missense_Mutation_p.R792K|TRIOBP_uc003ats.1_Missense_Mutation_p.R620K NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA. 792 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GACAACCCCAGAACATCCTGT 0.537000 50 6 0 0 3.59834e-05 0 0 ACSM2B 348158 broad.mit.edu 37 16 20548600 20548601 + Nonsense_Mutation DNP CG AT AT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:20548600_20548601CG>AT uc002dhj.4 - 14 1923_1924 c.1713_1714CG>AT c.(1711-1716)tccgga>tcATga p.G572* ACSM2B_uc002dhk.4_Nonsense_Mutation_p.G572* NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 572 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding p.G572V(1) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CGGGCTTTTCCGGACATCTTCC 0.460000 233 7 0 0 6.4e-05 0 0 ABCB5 340273 broad.mit.edu 37 7 20768024 20768024 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:20768024G>A uc010kuh.3 + 22 3050 c.2813G>A c.(2812-2814)cGa>cAa p.R938Q ABCB5_uc003suw.4_Missense_Mutation_p.R493Q|ABCB5_uc003sux.1_Missense_Mutation_p.R116Q NM_001163941 NP_848654 Q2M3G0 ABCB5_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA. 493 regulation of membrane potential Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GCAGGGTTTCGATTTGGAGCC 0.433000 105 26 0 0 7.16444e-05 0 0 SMARCA5 8467 broad.mit.edu 37 4 144449755 144449755 + Missense_Mutation SNP A G G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr4:144449755A>G uc003ijg.3 + 7 1439 c.977A>G c.(976-978)gAa>gGa p.E326G NM_003601 NP_003592 O60264 SMCA5_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA. 326 Helicase ATP-binding. CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) ATAGTGAGGGAATTCAAGACT 0.368000 43 5 0 0 1.23904e-05 0 0 LRFN5 145581 broad.mit.edu 37 14 42357007 42357007 + Silent SNP T A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr14:42357007T>A uc001wvm.3 + 2 2377 c.1179T>A c.(1177-1179)ggT>ggA p.G393G LRFN5_uc010ana.3_Silent_p.G393G NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA. 393 integral to membrane p.P392A(1)|p.P392H(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CTGATCCTGGTTCTTCAGATA 0.388000 HNSCC(30;0.082) 69 20 0 0 0.000229342 0 0 PRC1 9055 broad.mit.edu 37 15 91525133 91525134 + Nonsense_Mutation DNP CC AA AA TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr15:91525133_91525134CC>AA uc002bqm.3 - 3 502_503 c.345_346GG>TT c.(343-348)aaggag>aaTTag p.115_116KE>N* PRC1_uc002bqn.3_Nonsense_Mutation_p.115_116KE>N*|PRC1_uc002bqo.3_Nonsense_Mutation_p.115_116KE>N*|PRC1_uc010uqs.2_Nonsense_Mutation_p.74_75KE>N*|PRC1_uc010uqt.1_Nonsense_Mutation_p.63_64KE>N* NM_003981 NP_003972 O43663 PRC1_HUMAN Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA. 115 Dimerization. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) TGTTTTCTCTCCTTTTTCTGTT 0.436000 752 14 0 0 6.4e-05 0 0 ZNF326 284695 broad.mit.edu 37 1 90473040 90473041 + Missense_Mutation DNP CG AT AT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:90473040_90473041CG>AT uc001dnq.2 + 4 485_486 c.346_347CG>AT c.(346-348)cgg>ATg p.R116M ZNF326_uc009wda.1_Intron|ZNF326_uc001dnr.2_Intron NM_182976 NP_892021 Q5BKZ1 ZN326_HUMAN Homo sapiens zinc finger protein 326 (ZNF326), transcript variant 1, mRNA. 116 Gly-rich.|Mediates transcriptional activation (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix DNA binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1) 25 all_lung(203;0.0116)|Lung NSC(277;0.0417) all cancers(265;0.00728)|Epithelial(280;0.0265) GAGCTCCTACCGGAATAGCCTT 0.515000 193 6 0 0 6.4e-05 0 0 ALLC 55821 broad.mit.edu 37 2 3743413 3743413 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:3743413C>T uc010ewt.3 + 7 779 c.618C>T c.(616-618)gtC>gtT p.V206V ALLC_uc002qyf.3_5'UTR NM_018436 NP_060906 Q8N6M5 ALLC_HUMAN Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA. 225 allantoicase activity p.G205S(1) breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) TTGGGGGTGTCTGTGTAGGAT 0.453000 HNSCC(21;0.051) 35 7 0 0 0.000157383 0 0 CS 1431 broad.mit.edu 37 12 56679756 56679756 + Missense_Mutation SNP T C C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:56679756T>C uc001sks.1 - 2 335 c.145A>G c.(145-147)Aag>Gag p.K49E CS_uc010sql.1_Missense_Mutation_p.K36E|CS_uc001skr.1_5'UTR|CS_uc001skt.1_Intron|CS_uc010sqm.1_5'UTR NM_004077 NP_004068 O75390 CISY_HUMAN Homo sapiens citrate synthase (CS), nuclear gene encoding mitochondrial protein, mRNA. 49 cellular carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix citrate (Si)-synthase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 17 Myeloproliferative disorder(1001;0.000374) BRCA - Breast invasive adenocarcinoma(357;6.17e-07) CTGAAAGTCTTAATTCTGGCC 0.428000 213 33 0 0 0.000159656 0 0 ITGAE 3682 broad.mit.edu 37 17 3638140 3638140 + Missense_Mutation SNP T C C rs34281241 TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:3638140T>C uc002fwo.4 - 20 2725 c.2626A>G c.(2626-2628)Aga>Gga p.R876G NM_002208 NP_002199 P38570 ITAE_HUMAN Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA. 876 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) TGCAGGTTTCTGGGGTAATTC 0.532000 143 28 0 0 0.000279167 0 0 IREB2 3658 broad.mit.edu 37 15 78755386 78755386 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr15:78755386G>A uc002bdr.2 + 2 391 c.229G>A c.(229-231)Gaa>Aaa p.E77K IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.3_Missense_Mutation_p.E77K NM_004136 NP_004127 P48200 IREB2_HUMAN Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA. 77 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) AAGCAATGTTGAAGTGCCCTT 0.363000 204 53 0 0 0.000147903 0 0 FAM222A 84915 broad.mit.edu 37 12 110205859 110205859 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:110205859G>A uc001tpd.2 + 2 687 c.125G>A c.(124-126)aGc>aAc p.S42N FAM222A-AS1_uc010sxs.2_Intron|FAM222A-AS1_uc001tpe.3_Intron NM_032829 NP_116218 Q5U5X8 CL034_HUMAN Homo sapiens chromosome 12 open reading frame 34 (C12orf34), mRNA. 42 CGCTACCCGAGCCCAGCAGAA 0.642000 43 6 0 0 3.59834e-05 0 0 NUP93 9688 broad.mit.edu 37 16 56867143 56867144 + Missense_Mutation DNP GG AA AA TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:56867143_56867144GG>AA uc002eka.3 + 12 1483_1484 c.1362_1363GG>AA c.(1360-1365)acggtg>acAAtg p.V455M NUP93_uc002ekb.3_Missense_Mutation_p.V332M|NUP93_uc010vhi.2_Missense_Mutation_p.V332M NM_014669 NP_001229725 Q8N1F7 NUP93_HUMAN Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA. 455 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 CCCACTTTACGGTGAACCAGCA 0.569000 117 6 0 0 6.4e-05 0 0 FAT3 120114 broad.mit.edu 37 11 92087026 92087026 + Missense_Mutation SNP G T T rs75759020 TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:92087026G>T uc001pdj.4 + 0 1765 c.1748G>T c.(1747-1749)tGc>tTc p.C583F NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 583 Cadherin 6. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AAAGTGGCTTGCCAGGGAGTT 0.428000 TCGA Ovarian(4;0.039) 376 19 2.24893e-16 6.20385e-15 0.000437636 1 0 MFSD4 148808 broad.mit.edu 37 1 205553164 205553164 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:205553164C>T uc001hcv.4 + 3 858 c.772C>T c.(772-774)Ctg>Ttg p.L258L MFSD4_uc010prk.2_Silent_p.L171L|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Silent_p.L203L NM_181644 NP_857595 Q8N468 MFSD4_HUMAN Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA. 258 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) GCCCCTGCTTCTGTCTGCTGA 0.602000 59 11 0 0 0.000151284 0 0 VANGL2 57216 broad.mit.edu 37 1 160389198 160389198 + Missense_Mutation SNP A G G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:160389198A>G uc001fwb.2 + 4 898 c.599A>G c.(598-600)tAt>tGt p.Y200C VANGL2_uc001fwc.2_Missense_Mutation_p.Y200C NM_020335 NP_065068 Q9ULK5 VANG2_HUMAN Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA. 200 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGGCTCTTCTATGGTGTGCGC 0.632000 105 26 0 0 0.000227799 0 0 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139908431 139908431 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:139908431C>T uc003lfs.2 + 28 6054 c.5900C>T c.(5899-5901)cCt>cTt p.P1967L ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.P1967L|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.P706L|ANKHD1-EIF4EBP3_uc003lfw.3_Missense_Mutation_p.P605L|ANKHD1-EIF4EBP3_uc010jfl.3_Missense_Mutation_p.P402L|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.P104L NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA. 1967 cytoplasm|nucleus RNA binding breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2) 57 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCTGTGTGCCTAAGACAAGT 0.502000 131 26 0 0 7.16444e-05 0 0 TBX2 6909 broad.mit.edu 37 17 59485543 59485543 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:59485543C>T uc010wox.2 + 6 2096 c.1815C>T c.(1813-1815)tcC>tcT p.S605S TBX2_uc002ize.3_3'UTR|TBX2_uc002izg.3_Silent_p.S451S NM_005994 NP_005985 Q13207 TBX2_HUMAN Homo sapiens T-box 2 (TBX2), mRNA. 605 cell aging|positive regulation of cell proliferation sequence-specific DNA binding endometrium(1)|lung(7)|ovary(1) 9 ccgccgGCTCCCTCTCCCGGA 0.692000 12 5 0 0 0.000157383 0 0 CPEB1 64506 broad.mit.edu 37 15 83221280 83221280 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr15:83221280G>A uc002bit.3 - 7 1482 c.1345C>T c.(1345-1347)Ctg>Ttg p.L449L CPEB1_uc002bir.3_Silent_p.L314L|CPEB1_uc002bis.3_Silent_p.L309L|CPEB1_uc010uod.2_Silent_p.L158L|CPEB1_uc002biq.3_Silent_p.L309L|CPEB1_uc010uoe.2_Silent_p.L387L|CPEB1_uc002biu.3_Silent_p.L411L|CPEB1_uc010uof.2_Silent_p.L309L|CPEB1_uc002biv.3_Silent_p.L384L|CPEB1_uc002bip.3_Silent_p.L158L NM_001079533 NP_001073001 Q9BZB8 CPEB1_HUMAN Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA. 389 Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2. mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane RNA binding|nucleotide binding breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(143;0.229) TATTCACTCAGGCCATCTGGG 0.498000 61 19 0 0 9.7654e-05 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142500670 142500671 + Nonsense_Mutation DNP TC GT GT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:142500670_142500671TC>GT uc011dbj.2 + 17 1691_1692 c.1656_1657TC>GT c.(1654-1659)tttcag>ttGTag p.552_553FQ>L* ARHGAP26_uc003lmt.3_Nonsense_Mutation_p.552_553FQ>L*|ARHGAP26_uc003lmw.3_Nonsense_Mutation_p.552_553FQ>L* NM_015071 NP_055886 Q9UNA1 RHG26_HUMAN Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA. 552 Rho-GAP. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACATCAAATTTCAGAACATTGT 0.441000 91 18 0 0 6.4e-05 0 0 CYP4F12 66002 broad.mit.edu 37 19 15784417 15784418 + Missense_Mutation DNP GG AA AA TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:15784417_15784418GG>AA uc002nbl.3 + 1 197_198 c.78_79GG>AA c.(76-81)gtgggc>gtAAgc p.G27S CYP4F12_uc010xoo.2_Missense_Mutation_p.G27S|CYP4F12_uc010xop.2_Missense_Mutation_p.G27S NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) TGCTGGTTGTGGGCTCCTGGCT 0.629000 105 9 0 0 6.4e-05 0 0 PLXDC2 84898 broad.mit.edu 37 10 20534415 20534415 + Missense_Mutation SNP C A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:20534415C>A uc001iqg.1 + 12 2091 c.1454C>A c.(1453-1455)gCc>gAc p.A485D PLXDC2_uc001iqh.1_Missense_Mutation_p.A436D|PLXDC2_uc009xkc.1_Non-coding_Transcript NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN Homo sapiens plexin domain containing 2 (PLXDC2), mRNA. 485 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 ACATCAGCAGCCAGCATCTTC 0.443000 126 10 3.07112e-06 8.23296e-05 6.40141e-05 1 0 RNF148 378925 broad.mit.edu 37 7 122342240 122342240 + Missense_Mutation SNP G T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:122342240G>T uc003vkk.1 - 0 782 c.565C>A c.(565-567)Cat>Aat p.H189N CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron NM_198085 NP_932351 Q8N7C7 RN148_HUMAN Homo sapiens ring finger protein 148 (RNF148), mRNA. 189 integral to membrane zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|lung(7) 16 ATGATGTAATGGCTCACCCAC 0.438000 228 7 0.000157383 0.00416568 0.000157383 1 0 PSG3 5671 broad.mit.edu 37 19 43242965 43242966 + Missense_Mutation DNP CG AT AT rs149473391 byFrequency TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:43242965_43242966CG>AT uc002oue.3 - 1 472_473 c.340_341CG>AT c.(340-342)cgg>ATg p.R114M PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron NM_021016 NP_066296 Q16557 PSG3_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA. 114 Ig-like V-type. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) TGCGTCCTCCCGGGTGACATTC 0.460000 320 9 0 0 6.4e-05 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64672362 64672363 + Missense_Mutation DNP CC AA AA TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:64672362_64672363CC>AA uc003dmg.3 - 1 429_430 c.397_398GG>TT c.(397-399)ggg>TTg p.G133L ADAMTS9_uc011bfo.2_Missense_Mutation_p.G133L|ADAMTS9_uc003dmh.1_5'UTR|ADAMTS9_uc003dmk.1_Missense_Mutation_p.G133L|ADAMTS9-AS2_uc003dml.3_Intron NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA. 133 glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CTGATTCACCCCGGGCGTCCCG 0.525000 362 12 0 0 6.4e-05 0 0 PHLPP2 23035 broad.mit.edu 37 16 71697869 71697869 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:71697869G>A uc002fax.3 - 11 1924 c.1918C>T c.(1918-1920)Ctg>Ttg p.L640L PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Intron NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA. 640 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 TGCCCTACCAGGACAGGTATG 0.468000 59 14 0 0 0.000422831 0 0 AP3D1 8943 broad.mit.edu 37 19 2115260 2115260 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:2115260G>A uc002lva.3 - 19 2530 c.2307C>T c.(2305-2307)gcC>gcT p.A769A AP3D1_uc002luy.3_Silent_p.A678A|AP3D1_uc002luz.3_Silent_p.A769A NM_003938 NP_003929 O14617 AP3D1_HUMAN Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA. 769 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport Golgi membrane|endosome membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTGGGCAGGGGCGATGTCCT 0.602000 33 6 0 0 3.59834e-05 0 0 PAK7 57144 broad.mit.edu 37 20 9546931 9546931 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:9546931G>A uc002wnl.2 - 5 1636 c.1091C>T c.(1090-1092)tCg>tTg p.S364L PAK7_uc002wnk.2_Missense_Mutation_p.S364L|PAK7_uc002wnj.2_Missense_Mutation_p.S364L|PAK7_uc010gby.1_Missense_Mutation_p.S364L NM_020341 NP_817127 Q9P286 PAK7_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA. 364 Linker. ATP binding|protein binding|protein serine/threonine kinase activity p.S364L(2) NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GGAATAGCCCGATTTGCTTTG 0.562000 79 21 0 0 0.000229342 0 0 LNPEP 4012 broad.mit.edu 37 5 96349474 96349474 + Missense_Mutation SNP C A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:96349474C>A uc003kmv.1 + 11 2672 c.2158C>A c.(2158-2160)Cct>Act p.P720T LNPEP_uc003kmw.1_Missense_Mutation_p.P706T NM_005575 NP_787116 Q9UIQ6 LCAP_HUMAN Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA. 720 cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) GAAAATAAATCCTTATGTTCT 0.338000 164 15 4.35082e-09 1.19078e-07 0.000175454 1 0 ZFPM2 23414 broad.mit.edu 37 8 106813585 106813585 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:106813585G>A uc003ymd.3 + 7 1298 c.1275G>A c.(1273-1275)aaG>aaA p.K425K ZFPM2_uc011lhs.2_Silent_p.K156K NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 425 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AGAGCCAAAAGGCCATGCAGA 0.493000 42 5 0 0 1.23904e-05 0 0 MUC3A 4584 broad.mit.edu 37 7 100552009 100552009 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:100552009C>T uc003uxl.1 + 0 1260 c.460C>T c.(460-462)Cca>Tca p.P154S MUC3A_uc003uxk.1_Non-coding_Transcript SubName: Full=Intestinal mucin; Flags: Fragment; p.F154L(1) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 CAGCATAACTCCAGTGTTCTC 0.428000 702 32 0 0 0.000159656 0 0 ADCY8 114 broad.mit.edu 37 8 131861885 131861885 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:131861885G>A uc003ytd.4 - 9 2631 c.2375C>T c.(2374-2376)tCc>tTc p.S792F ADCY8_uc010mds.3_Intron NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 792 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AATCAAAATGGATGCAAAGAT 0.443000 HNSCC(32;0.087) 44 7 0 0 0.000274275 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174830 150174830 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:150174830G>A uc003whj.3 + 4 2290 c.1960G>A c.(1960-1962)Gaa>Aaa p.E654K NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA. 654 Golgi apparatus|endoplasmic reticulum|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GTCCCAAGCCGAAAAACTCCT 0.463000 54 16 0 0 0.000308642 0 0 COL1A1 1277 broad.mit.edu 37 17 48263849 48263850 + Missense_Mutation DNP GG AA AA TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:48263849_48263850GG>AA uc002iqm.3 - 48 3959_3960 c.3833_3834CC>TT c.(3832-3834)ccc>cTT p.P1278L DD181999_uc021tzy.1_5'Flank NM_000088 NP_000079 P02452 CO1A1_HUMAN Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. 1278 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) AGCCTTGGTTGGGGTCAATCCA 0.569000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 46 14 0 0 6.4e-05 0 0 GPATCH3 63906 broad.mit.edu 37 1 27217645 27217645 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:27217645G>A uc001bne.3 - 6 1463 c.1434C>T c.(1432-1434)tcC>tcT p.S478S BC016143_uc021ojq.1_Intron|GPN2_uc001bnd.1_5'Flank|GPATCH3_uc009vsp.2_Silent_p.S289S NM_022078 NP_071361 Q96I76 GPTC3_HUMAN Homo sapiens G patch domain containing 3 (GPATCH3), mRNA. 478 intracellular nucleic acid binding endometrium(2)|large_intestine(1)|lung(11)|skin(1) 15 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) CATAGATGGTGGAGATGAGCC 0.547000 32 5 0 0 1.23904e-05 0 0 FAT4 79633 broad.mit.edu 37 4 126371967 126371967 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr4:126371967C>T uc003ifj.4 + 8 9796 c.9796C>T c.(9796-9798)Ctt>Ttt p.L3266F FAT4_uc011cgp.2_Missense_Mutation_p.L1564F|FAT4_uc003ifi.1_Missense_Mutation_p.L744F NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 3266 Cadherin 31. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GAGCTACCATCTTACTGTGAA 0.423000 47 8 0 0 0.000274275 0 0 PRDM1 639 broad.mit.edu 37 6 106555006 106555006 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:106555006G>A uc003prd.2 + 6 2357 c.2123G>A c.(2122-2124)gGg>gAg p.G708E PRDM1_uc003pre.3_Missense_Mutation_p.G574E NM_001198 NP_001189 O75626 PRDM1_HUMAN Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA. 708 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E707K(1) NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) CACCTGAAAGGGAACTGCGCT 0.567000 """D, N, Mis, F, S""" DLBCL 241 26 0 0 0.000227799 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140187229 140187229 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:140187229C>T uc003lhi.2 + 0 558 c.457C>T c.(457-459)Cca>Tca p.P153S PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.P153S|PCDHAC2_uc011daa.2_Missense_Mutation_p.P153S NM_018907 NP_061730 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA. 168 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTCGGTTTCCACTAGAGGG 0.537000 84 15 0 0 5.01169e-05 0 0 PSMA6 5687 broad.mit.edu 37 14 35778191 35778192 + Nonsense_Mutation DNP CG AT AT rs145545043 byFrequency TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr14:35778191_35778192CG>AT uc001wtd.3 + 2 352_353 c.243_244CG>AT c.(241-246)accgga>acATga p.G82* KIAA0391_uc001wta.3_Non-coding_Transcript|PSMA6_uc010tpt.2_Nonsense_Mutation_p.G3*|PSMA6_uc010tpu.2_Nonsense_Mutation_p.G3* NM_002791 NP_002782 P60900 PSA6_HUMAN Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 6 (PSMA6), mRNA. 82 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|RNA binding|purine ribonucleoside triphosphate binding|threonine-type endopeptidase activity p.G82A(1) kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1) 10 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) GTGTGATGACCGGAATGACAGG 0.277000 303 8 0 0 6.4e-05 0 0 C1orf52 148423 broad.mit.edu 37 1 85724326 85724326 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:85724326G>A uc001dkv.3 - 1 395 c.356C>T c.(355-357)cCt>cTt p.P119L C1orf52_uc001dkw.3_Non-coding_Transcript|C1orf52_uc001dkx.4_Non-coding_Transcript|C1orf52_uc009wcn.3_Missense_Mutation_p.P119L NM_198077 NP_932343 Q8N6N3 CA052_HUMAN Homo sapiens chromosome 1 open reading frame 52 (C1orf52), transcript variant 1, mRNA. 119 endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1) 10 all cancers(265;0.0105)|Epithelial(280;0.0293) AAGCTCTGGAGGCGGAGGCTT 0.438000 53 10 0 0 2.17888e-05 0 0 DYSF 8291 broad.mit.edu 37 2 71908140 71908140 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:71908140G>A uc010fen.3 + 53 6214 c.6073G>A c.(6073-6075)Gaa>Aaa p.E2025K DYSF_uc010fei.3_Missense_Mutation_p.E2003K|DYSF_uc010feh.3_Missense_Mutation_p.E1993K|DYSF_uc002sig.4_Missense_Mutation_p.E1972K|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.E2017K|DYSF_uc010fee.3_Missense_Mutation_p.E2007K|DYSF_uc010fef.3_Missense_Mutation_p.E2024K|DYSF_uc002sie.3_Missense_Mutation_p.E1986K|DYSF_uc010feo.3_Missense_Mutation_p.E2018K|DYSF_uc010fej.3_Missense_Mutation_p.E1994K|DYSF_uc010fel.3_Missense_Mutation_p.E1973K|DYSF_uc010fem.3_Missense_Mutation_p.E2008K|DYSF_uc002sif.3_Missense_Mutation_p.E1987K|DYSF_uc010fek.3_Missense_Mutation_p.E2004K|DYSF_uc010yqy.2_Missense_Mutation_p.E867K|DYSF_uc010yqz.2_Missense_Mutation_p.E747K NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 1986 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GGGCAAGCTGGAAATGACCTT 0.572000 45 5 0 0 0.000157383 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140308559 140308559 + Missense_Mutation SNP A T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:140308559A>T uc003lih.2 + 0 2258 c.2082A>T c.(2080-2082)ttA>ttT p.L694F PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.L694F NM_018898 NP_061721 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA. 718 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTCCTTTTTATTTCTGGGGT 0.478000 94 9 0 0 6.40141e-05 0 0 CHST12 55501 broad.mit.edu 37 7 2472430 2472430 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:2472430C>T uc003smc.3 + 1 319 c.156C>T c.(154-156)ccC>ccT p.P52P CHST12_uc003smd.3_Silent_p.P52P|CHST12_uc021zyu.1_Silent_p.P52P|CHST12_uc021zyv.1_Silent_p.P52P NM_001243794 NP_001230723 Q9NRB3 CHSTC_HUMAN Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 12 (CHST12), transcript variant 1, mRNA. 52 P -> H (in dbSNP:rs3735099). dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) TGCCCACGCCCGGGCCGGACA 0.642000 65 18 0 0 0.000175454 0 0 FAM71C 196472 broad.mit.edu 37 12 100042415 100042415 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:100042415C>T uc001tgn.3 + 0 888 c.463C>T c.(463-465)Cca>Tca p.P155S ANKS1B_uc001tge.2_Intron|ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Intron NM_153364 NP_699195 Q8NEG0 FA71C_HUMAN Homo sapiens family with sequence similarity 71, member C (FAM71C), mRNA. 155 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) GCTGTGTCCTCCATCGGATGC 0.473000 50 6 0 0 8.12818e-05 0 0 ZC3H3 23144 broad.mit.edu 37 8 144620568 144620568 + Silent SNP A G G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:144620568A>G uc003yyd.2 - 1 998 c.969T>C c.(967-969)gtT>gtC p.V323V NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA. 323 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CCCTCCGAGCAACCCGGGGAC 0.597000 134 8 0 0 2.17888e-05 0 0 ACSM2A 123876 broad.mit.edu 37 16 20482505 20482505 + Missense_Mutation SNP C T T rs142316126 TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:20482505C>T uc010bwe.3 + 5 946 c.707C>T c.(706-708)tCg>tTg p.S236L ACSM2A_uc010bwd.1_Intron|ACSM2A_uc010vax.1_Missense_Mutation_p.S157L|ACSM2A_uc002dhf.4_Missense_Mutation_p.S236L|ACSM2A_uc002dhg.4_Missense_Mutation_p.S236L|ACSM2A_uc010vay.2_Missense_Mutation_p.S157L NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA. 236 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 CATTCCTACTCGAGCCTGGGC 0.502000 76 9 0 0 0.000274275 0 0 ASXL3 80816 broad.mit.edu 37 18 31325110 31325110 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr18:31325110G>A uc010dmg.1 + 11 5353 c.5298G>A c.(5296-5298)caG>caA p.Q1766Q ASXL3_uc002kxq.2_Silent_p.Q1473Q NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 1766 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TGTTGCCACAGCCCAGATTGG 0.517000 37 9 0 0 0.000274275 0 0 SMOX 54498 broad.mit.edu 37 20 4162833 4162833 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:4162833C>T uc002wkp.2 + 4 908 c.707C>T c.(706-708)cCc>cTc p.P236L SMOX_uc010zqo.1_Missense_Mutation_p.P213L|SMOX_uc002wkk.1_Missense_Mutation_p.P236L|SMOX_uc002wkl.1_Missense_Mutation_p.P236L|SMOX_uc002wkm.1_Missense_Mutation_p.P236L|SMOX_uc002wkn.1_Intron|SMOX_uc002wko.1_Missense_Mutation_p.P236L NM_175839 NP_787033 Q9NWM0 SMOX_HUMAN Homo sapiens spermine oxidase (SMOX), transcript variant 1, mRNA. 236 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) CACATCATCCCCTCGGGCTTC 0.647000 34 8 0 0 0.000274275 0 0 FAM75A7 26165 broad.mit.edu 37 9 65506493 65506494 + Missense_Mutation DNP GG TT TT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr9:65506493_65506494GG>TT uc004adx.4 - 3 1095_1096 c.1066_1067CC>AA c.(1066-1068)cca>AAa p.P356K NM_015667 NP_056482 Q8IWB4 F75A7_HUMAN Homo sapiens family with sequence similarity 75, member A7 (FAM75A7), mRNA. 356 integral to membrane breast(1)|large_intestine(1)|lung(4)|ovary(1) 7 GTGCTTTTCTGGGGTCATTCGA 0.426000 281 9 0 0 6.4e-05 0 0 HSPA12A 259217 broad.mit.edu 37 10 118435910 118435910 + Splice_Site SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:118435910G>A uc001lct.3 - 11 1495 c.1390_splice c.e11+1 p.R464_splice HSPA12A_uc001lcu.3_Splice_Site_p.R381_splice NM_025015 NP_079291 O43301 HS12A_HUMAN Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA. 464 ATP binding breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all cancers(201;0.0158) TGATACTTACGGAGATGCTCA 0.572000 87 9 0 0 3.86212e-05 0 0 RDM1 201299 broad.mit.edu 37 17 34251717 34251717 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:34251717C>T uc002hkh.3 - 3 508 c.459G>A c.(457-459)ccG>ccA p.P153P RDM1_uc010cty.3_Intron|RDM1_uc010ctz.3_Intron|RDM1_uc010cua.3_Silent_p.P130P|RDM1_uc002hkg.4_Silent_p.P130P|RDM1_uc010cub.3_Intron|RDM1_uc010cuf.3_Intron|RDM1_uc010cue.3_Intron|RDM1_uc010cug.3_Intron|RDM1_uc010cuc.3_Intron|RDM1_uc010cud.3_Silent_p.P153P|RDM1_uc010wco.2_Intron|RDM1_uc010wcp.2_Silent_p.P130P|RDM1_uc002hki.3_Silent_p.P153P NM_145654 NP_663629 Q8NG50 RDM1_HUMAN Homo sapiens RAD52 motif 1 (RDM1), transcript variant 1, mRNA. 153 DNA recombination|DNA repair Cajal body|PML body|cytoplasm|nucleolus DNA binding|RNA binding|nucleotide binding breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1) 9 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GGCTTTGCTTCGGAAGTGGCA 0.468000 Other identified genes with known or suspected DNA repair function 85 18 0 0 7.07596e-05 0 0 ACOT12 134526 broad.mit.edu 37 5 80638515 80638515 + Nonsense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:80638515C>T uc003khl.4 - 10 1159 c.1104G>A c.(1102-1104)tgG>tgA p.W368* RNU5E-1_uc011cto.1_Intron NM_130767 NP_570123 Q8WYK0 ACO12_HUMAN Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA. 368 START. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) TGGTAACCTCCCAACCCCTTT 0.448000 122 14 0 0 0.000422831 0 0 ATP5SL 55101 broad.mit.edu 37 19 41942339 41942340 + Missense_Mutation DNP CC TT TT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:41942339_41942340CC>TT uc002oqv.3 - 2 338_339 c.271_272GG>AA c.(271-273)ggc>AAc p.G91N ATP5SL_uc010xwa.2_Missense_Mutation_p.G91N|ATP5SL_uc002oqw.2_Missense_Mutation_p.G85N|ATP5SL_uc021uuz.1_Non-coding_Transcript|ATP5SL_uc002oqx.2_Intron|ATP5SL_uc002oqy.2_Missense_Mutation_p.G85N|ATP5SL_uc002oqz.2_Intron|ATP5SL_uc002ora.1_Missense_Mutation_p.G72N|ATP5SL_uc010xwb.2_Intron NM_001167867 NP_001161339 Q9NW81 AT5SL_HUMAN Homo sapiens ATP5S-like (ATP5SL), transcript variant 1, mRNA. 85 breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 11 GGCACCTGCGCCGTATGGACCA 0.564000 84 17 0 0 6.4e-05 0 0 SYT4 6860 broad.mit.edu 37 18 40853859 40853859 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr18:40853859C>T uc002law.3 - 1 904 c.535G>A c.(535-537)Ggc>Agc p.G179S SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Missense_Mutation_p.G161S NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN Homo sapiens synaptotagmin IV (SYT4), mRNA. 179 C2 1.|Phospholipid binding (Probable). cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 GCTGGCAAGCCACGGGCTTCC 0.443000 70 6 0 0 3.59834e-05 0 0 NBPF1 55672 broad.mit.edu 37 1 16914222 16914224 + Missense_Mutation DNP GG TT TT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:16914222_16914224GG>TT uc009vos.1 - 9 1450_1452 c.562_564CC>AA c.(562-564)ccc>AA p.P188del NBPF1_uc009vot.1_5'Flank|NBPF1_uc001ayz.1_5'Flank|NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. 188 NBPF 1. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) AGTGTTACCTGGGGGCAGATGAT 0.443000 564 10 0 0 6.4e-05 0 0 HEPHL1 341208 broad.mit.edu 37 11 93779085 93779085 + Splice_Site SNP T A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:93779085T>A uc001pep.2 + 2 572 c.415_splice c.e2+2 p.G139_splice NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN Homo sapiens hephaestin-like 1 (HEPHL1), mRNA. 139 Plastocyanin-like 1. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) ATTCAGAAGGTAAATATCAAT 0.368000 48 6 0 0 0.000157383 0 0 SLC12A5 57468 broad.mit.edu 37 20 44670038 44670038 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:44670038G>A uc010zxl.1 + 7 1070 c.994G>A c.(994-996)Gga>Aga p.G332R SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.G309R NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA. 332 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GGCTTGGGAAGGAAATGAGAC 0.552000 58 13 0 0 0.000219431 0 0 C17orf102 400591 broad.mit.edu 37 17 32906108 32906108 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:32906108G>A uc002hie.1 - 0 281 c.192C>T c.(190-192)tcC>tcT p.S64S TMEM132E_uc002hif.3_5'Flank NM_207454 NP_997337 A2RUQ5 CQ102_HUMAN Homo sapiens chromosome 17 open reading frame 102 (C17orf102), mRNA. 64 central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1) 9 CCGCGCCTCTGGAAGAGCGGC 0.667000 88 9 0 0 0.000151284 0 0 NFASC 23114 broad.mit.edu 37 1 204913534 204913534 + Splice_Site SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:204913534C>T uc010prc.2 + 1 181 c.-1348_splice c.e1+1 NFASC_uc001hbh.3_Splice_Site_p.P31_splice|NFASC_uc010pqz.2_Splice_Site_p.L31_splice|NFASC_uc001hbj.3_Splice_Site_p.P31_splice|NFASC_uc010pra.2_Splice_Site_p.L31_splice|NFASC_uc001hbi.3_Splice_Site_p.L31_splice|NFASC_uc009xbg.1_Splice_Site_p.L104_splice|NFASC_uc010prb.2_Splice_Site_p.L31_splice O94856 NFASC_HUMAN Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding p.L31L(1)|p.P31S(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TCCTATGGATCGTGAGTCCTG 0.572000 19 5 0 0 1.23904e-05 0 0 LRFN3 79414 broad.mit.edu 37 19 36435675 36435675 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:36435675C>T uc002oco.3 + 2 2093 c.1641C>T c.(1639-1641)atC>atT p.I547I NM_024509 NP_078785 Q9BTN0 LRFN3_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA. 547 cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GCGGCGTCATCGTAGCCTCGG 0.677000 25 6 0 0 8.12818e-05 0 0 DGKB 1607 broad.mit.edu 37 7 14724893 14724893 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:14724893C>T uc003ssz.3 - 8 993 c.806G>A c.(805-807)gGg>gAg p.G269E DGKB_uc011jxt.2_Missense_Mutation_p.G262E|DGKB_uc003sta.3_Missense_Mutation_p.G269E|DGKB_uc011jxu.2_Missense_Mutation_p.G269E|DGKB_uc011jxv.1_Missense_Mutation_p.G269E NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA. 269 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) GCCCTGCTTCCCCACGCCAAT 0.478000 61 10 0 0 0.00010058 0 0 DMD 1756 broad.mit.edu 37 X 31201000 31201000 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chrX:31201000C>T uc004dda.1 - 67 10073 c.9829G>A c.(9829-9831)Gaa>Aaa p.E3277K DMD_uc004dcq.1_Missense_Mutation_p.E548K|DMD_uc004dcr.1_Missense_Mutation_p.E817K|DMD_uc004dcs.1_Missense_Mutation_p.E817K|DMD_uc004dct.1_Missense_Mutation_p.E817K|DMD_uc004dcu.1_Missense_Mutation_p.E817K|DMD_uc004dcv.1_Missense_Mutation_p.E817K|DMD_uc004dcw.2_Missense_Mutation_p.E1933K|DMD_uc004dcx.2_Missense_Mutation_p.E1936K|DMD_uc004dcz.2_Missense_Mutation_p.E3154K|DMD_uc004dcy.1_Missense_Mutation_p.E3273K|DMD_uc004ddb.1_Missense_Mutation_p.E3269K|DMD_uc004dcp.1_Missense_Mutation_p.E209K|DMD_uc011mkb.1_Missense_Mutation_p.E209K|DMD_uc004dcm.1_Missense_Mutation_p.E209K|DMD_uc004dcn.1_Missense_Mutation_p.E209K|DMD_uc004dco.1_Missense_Mutation_p.E209K|DMD_uc010ngm.3_Missense_Mutation_p.E209K NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 3277 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGGGCCGCTTCGATCTCTGGC 0.527000 22 10 0 0 3.86212e-05 0 0 GRM7 2917 broad.mit.edu 37 3 7188208 7188208 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:7188208C>T uc003bqm.2 + 1 863 c.589C>T c.(589-591)Cgc>Tgc p.R197C GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.R197C|GRM7_uc003bql.2_Missense_Mutation_p.R197C NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 197 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) CTTCTTCTCTCGCGTGGTGCC 0.522000 83 8 0 0 2.17888e-05 0 0 CASC3 22794 broad.mit.edu 37 17 38325581 38325581 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:38325581C>T uc010cwt.1 + 11 2265 c.1970C>T c.(1969-1971)cCa>cTa p.P657L CASC3_uc002hue.3_Missense_Mutation_p.P657L NM_007359 NP_031385 O15234 CASC3_HUMAN Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA. 657 Necessary for localization in cytoplasmic stress granules. RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm RNA binding|identical protein binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 TCCCAGGCCCCATCACAGGTA 0.527000 127 29 0 0 0.000339439 0 0 LMX1A 4009 broad.mit.edu 37 1 165173144 165173144 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:165173144G>A uc001gcz.2 - 8 1316 c.1122C>T c.(1120-1122)tcC>tcT p.S374S LMX1A_uc021pdz.1_Silent_p.S374S|LMX1A_uc021pdy.1_Silent_p.S125S|LMX1A_uc001gcw.2_Silent_p.S92S NM_001174069 NP_796372 Q8TE12 LMX1A_HUMAN Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA. 374 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) AATTCTGCATGGAGTACAGAT 0.493000 51 13 0 0 0.000219431 0 0 PPA2 27068 broad.mit.edu 37 4 106367568 106367568 + Missense_Mutation SNP T C C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr4:106367568T>C uc003hxl.3 - 4 433 c.413A>G c.(412-414)tAt>tGt p.Y138C PPA2_uc003hxn.3_Missense_Mutation_p.Y138C|PPA2_uc003hxo.3_Intron|PPA2_uc003hxp.3_Intron|PPA2_uc003hxq.3_Missense_Mutation_p.Y45C|PPA2_uc011cfa.1_Missense_Mutation_p.Y45C NM_176869 NP_789845 Q9H2U2 IPYR2_HUMAN Homo sapiens pyrophosphatase (inorganic) 2 (PPA2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 138 diphosphate metabolic process|tRNA aminoacylation for protein translation mitochondrial matrix inorganic diphosphatase activity|magnesium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1) 11 Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.03e-07) ATTCCATATATAACCCTTGTA 0.373000 115 14 0 0 9.7654e-05 0 0 IRX2 153572 broad.mit.edu 37 5 2749026 2749026 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:2749026C>T uc003jda.3 - 2 1038 c.796G>A c.(796-798)Gac>Aac p.D266N IRX2_uc003jdb.3_Missense_Mutation_p.D266N NM_001134222 NP_150366 Q9BZI1 IRX2_HUMAN Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA. 266 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.D266V(1) breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) TCGTCCTCGTCGTCCTCCAGG 0.721000 22 8 0 0 0.000274275 0 0 KCNQ3 3786 broad.mit.edu 37 8 133184904 133184904 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:133184904C>T uc003ytj.3 - 6 1306 c.1081G>A c.(1081-1083)Gag>Aag p.E361K KCNQ3_uc003yti.3_Missense_Mutation_p.E241K|KCNQ3_uc010mdt.3_Missense_Mutation_p.E361K NM_004519 NP_004510 O43525 KCNQ3_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA. 361 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.E361D(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CGGTGTTGCTCCTGCACCTTG 0.587000 96 5 0 0 1.23904e-05 0 0 ABCA9 10350 broad.mit.edu 37 17 66992103 66992103 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:66992103C>T uc002jhu.3 - 25 3631 c.3488G>A c.(3487-3489)gGg>gAg p.G1163E ABCA9_uc010dez.3_Missense_Mutation_p.G1125E NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA. 1163 transport integral to membrane ATP binding|ATPase activity p.L1162P(1) NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) AAAAAATAGCCCTAGAAATCC 0.378000 69 5 0 0 1.23904e-05 0 0 KIAA1274 27143 broad.mit.edu 37 10 72324133 72324133 + Missense_Mutation SNP A G G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:72324133A>G uc001jrd.4 + 18 2557 c.2276A>G c.(2275-2277)aAa>aGa p.K759R KIAA1274_uc001jre.4_Missense_Mutation_p.K50R NM_014431 NP_055246 Q9ULE6 PALD_HUMAN Homo sapiens KIAA1274 (KIAA1274), mRNA. 759 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1) 36 AAGGCAGCGAAAGAGGCGCAA 0.612000 69 4 0 0 0.00024832 0 0 RBM48 84060 broad.mit.edu 37 7 92163790 92163790 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:92163790G>A uc003uma.3 + 3 564 c.523G>A c.(523-525)Gag>Aag p.E175K RBM48_uc011khu.1_3'UTR|RBM48_uc003ulz.3_Missense_Mutation_p.E175K Q5RL73 CG064_HUMAN Homo sapiens RNA binding motif protein 48 (RBM48), mRNA. 175 nucleotide binding CTTCCACTCAGAGATGTCTGG 0.363000 54 13 0 0 0.000308642 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187692974 187692974 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:187692974C>T uc002upu.1 - 8 1679 c.1639G>A c.(1639-1641)Ggc>Agc p.G547S NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA. 547 apoptosis zinc ion binding p.K546R(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) CATTTACAGCCTTTGGTCATC 0.393000 32 8 0 0 0.000157383 0 0 ACSL1 2180 broad.mit.edu 37 4 185678861 185678861 + Splice_Site SNP C A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr4:185678861C>A uc003iww.2 - 20 2179 c.1885_splice c.e20-1 p.D629_splice ACSL1_uc011ckm.1_Splice_Site_p.D458_splice|ACSL1_uc003iwt.1_Splice_Site_p.D629_splice|ACSL1_uc003iwu.1_Splice_Site_p.D629_splice|ACSL1_uc011ckn.1_Splice_Site_p.D595_splice|ACSL1_uc003iws.1_Splice_Site_p.D189_splice NM_001995 NP_001986 P33121 ACSL1_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA. 629 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TTTTGACATCCTAAAAGGGTA 0.398000 150 8 0.000157383 0.00416568 0.000157383 1 0 ERCC6 2074 broad.mit.edu 37 10 50691522 50691522 + Missense_Mutation SNP A G G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:50691522A>G uc001jhs.4 - 8 2016 c.1862T>C c.(1861-1863)tTg>tCg p.L621S ERCC6_uc010qgr.2_5'UTR|ERCC6_uc001jhr.4_Missense_Mutation_p.L21S NM_000124 NP_000115 Q03468 ERCC6_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA. 621 Helicase ATP-binding. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 AGATGTGATCAAAATTCCATG 0.378000 Direct reversal of damage;Nucleotide excision repair (NER) 85 4 0 0 0.00024832 0 0 AACS 65985 broad.mit.edu 37 12 125609487 125609487 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:125609487C>T uc001uhc.3 + 11 1432 c.1226C>T c.(1225-1227)tCc>tTc p.S409F AACS_uc001uhd.3_Missense_Mutation_p.S409F|AACS_uc009zyh.3_Intron|AACS_uc009zyi.3_Missense_Mutation_p.S7F NM_023928 NP_076417 Q86V21 AACS_HUMAN Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA. 409 fatty acid metabolic process cytosol ATP binding|acetoacetate-CoA ligase activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) ACGATCCTGTCCACTGGCTCC 0.557000 68 6 0 0 8.12818e-05 0 0 PKD1 5310 broad.mit.edu 37 16 2153649 2153649 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:2153649G>A uc002cos.1 - 22 8618 c.8409C>T c.(8407-8409)ggC>ggT p.G2803G TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.G2803G|PKD1_uc010bse.1_Non-coding_Transcript NM_001009944 NP_001009944 P98161 PKD1_HUMAN Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA. 2803 REJ. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding p.G2803V(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 AGAAGTGGCAGCCAGGCCCTG 0.672000 53 8 0 0 0.000274275 0 0 DSG2 1829 broad.mit.edu 37 18 29100904 29100904 + Nonsense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr18:29100904C>T uc002kwu.4 + 3 543 c.355C>T c.(355-357)Cga>Tga p.R119* NM_001943 NP_001934 Q14126 DSG2_HUMAN Homo sapiens desmoglein 2 (DSG2), mRNA. 119 Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) CATTCTTGATCGAGAAGAAAC 0.294000 53 6 0 0 0.000157383 0 0 NLRP13 126204 broad.mit.edu 37 19 56424571 56424571 + Silent SNP G A A rs142264094 byFrequency TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:56424571G>A uc010ygg.2 - 4 637 c.612C>T c.(610-612)atC>atT p.I204I NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 204 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) ATGTATTACGGATATATACGT 0.498000 160 21 0 0 0.000229342 0 0 SEPN1 57190 broad.mit.edu 37 1 26131760 26131760 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:26131760C>T uc021ojk.1 + 3 586 c.531C>T c.(529-531)ttC>ttT p.F177F SEPN1_uc021ojl.1_Silent_p.F143F NM_020451 NP_065184 Q9NZV5 SELN_HUMAN Homo sapiens selenoprotein N, 1 (SEPN1), transcript variant 1, mRNA. 177 endoplasmic reticulum membrane|extracellular region protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649) AAGATGGCTTCCTAGGGGTGA 0.567000 54 9 0 0 2.17888e-05 0 0 AMFR 267 broad.mit.edu 37 16 56423115 56423115 + Missense_Mutation SNP G T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:56423115G>T uc002eiy.3 - 8 1463 c.1258C>A c.(1258-1260)Cac>Aac p.H420N AMFR_uc002eix.3_Intron NM_001144 NP_001135 Q9UKV5 AMFR2_HUMAN Homo sapiens autocrine motility factor receptor (AMFR), mRNA. 420 ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 TGGAAGAAGTGATTGTGTTGG 0.423000 90 6 2.0095e-06 5.40085e-05 8.12818e-05 1 0 SLC2A10 81031 broad.mit.edu 37 20 45355517 45355518 + Missense_Mutation DNP CT TC TC TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:45355517_45355518CT>TC uc002xsl.3 + 2 1400_1401 c.1303_1304CT>TC c.(1303-1305)ctc>TCc p.L435S NM_030777 NP_110404 O95528 GTR10_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA. 435 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) CTGGCTTGTCCTCAGCGAGATC 0.589000 130 10 0 0 6.4e-05 0 0 SYNE1 23345 broad.mit.edu 37 6 152686086 152686086 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:152686086G>A uc021zhb.1 - 60 10264 c.10041C>T c.(10039-10041)gtC>gtT p.V3347V SYNE1_uc003qot.4_Silent_p.V3354V|SYNE1_uc003qou.4_Silent_p.V3347V|SYNE1_uc010kja.2_Silent_p.V52V NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 3347 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TATTCTGAAGGACAGATTCTC 0.433000 HNSCC(10;0.0054) 63 15 0 0 0.000308642 0 0 TMC2 117532 broad.mit.edu 37 20 2597740 2597740 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:2597740G>A uc002wgf.1 + 15 1978 c.1963G>A c.(1963-1965)Ggc>Agc p.G655S TMC2_uc002wgg.1_Missense_Mutation_p.G639S NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN Homo sapiens transmembrane channel-like 2 (TMC2), mRNA. 655 integral to membrane p.P654P(1) NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 CTATGCTCCAGGCCTGGTGGG 0.567000 35 7 0 0 2.17888e-05 0 0 TLR4 7099 broad.mit.edu 37 9 120476865 120476865 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr9:120476865C>T uc004bjz.3 + 2 2750 c.2459C>T c.(2458-2460)tCa>tTa p.S820L TLR4_uc004bkb.3_Missense_Mutation_p.S620L|TLR4_uc004bka.3_Missense_Mutation_p.S780L NM_138554 NP_612564 O00206 TLR4_HUMAN Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA. 820 I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 GATGGTAAATCATGGAATCCA 0.502000 86 11 0 0 0.000308642 0 0 MPP2 4355 broad.mit.edu 37 17 41959867 41959867 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:41959867G>A uc010win.1 - 4 652 c.49C>T c.(49-51)Cgc>Tgc p.R17C MPP2_uc002ien.1_Missense_Mutation_p.R173C|MPP2_uc010wim.1_Missense_Mutation_p.R145C|MPP2_uc002ieo.1_Missense_Mutation_p.R156C|MPP2_uc010wio.1_Missense_Mutation_p.R145C|MPP2_uc010wip.1_Missense_Mutation_p.R201C|MPP2_uc010czm.1_Missense_Mutation_p.R139C Q14168 MPP2_HUMAN Homo sapiens membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) (MPP2), mRNA. 180 L27 1. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) CCCTCCACGCGGAACGTTACA 0.552000 34 4 0 0 0.00024832 0 0 GRB14 2888 broad.mit.edu 37 2 165378510 165378510 + Missense_Mutation SNP A C C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:165378510A>C uc002ucl.3 - 5 1337 c.796T>G c.(796-798)Tct>Gct p.S266A GRB14_uc010zcv.2_Missense_Mutation_p.S179A NM_004490 NP_004481 Q14449 GRB14_HUMAN Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA. 266 PH. blood coagulation|leukocyte migration Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 CCTTTAGTAGAAAAATATAAA 0.299000 126 16 0 0 9.7654e-05 0 0 TTN 7273 broad.mit.edu 37 2 179455439 179455439 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:179455439C>T uc021vsy.1 - 252 53534 c.53309G>A c.(53308-53310)gGa>gAa p.G17770E MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G11465E|TTN_uc021vta.1_Missense_Mutation_p.G11398E|TTN_uc021vtb.1_Missense_Mutation_p.G11273E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 18697 Ig-like 104. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.V17770V(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATATGTATTTCCTTCATAGAG 0.438000 111 20 0 0 9.7654e-05 0 0 SULT1B1 27284 broad.mit.edu 37 4 70620402 70620402 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr4:70620402C>T uc003hen.3 - 2 561 c.263G>A c.(262-264)gGa>gAa p.G88E NM_014465 NP_055280 O43704 ST1B1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA. 88 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol p.P87H(1) breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1) 24 TGTTCTTAATCCAGGGAGAGT 0.303000 161 13 0 0 0.000422831 0 0 ATP5J2-PTCD1 100526740 broad.mit.edu 37 7 99057750 99057750 + Missense_Mutation SNP C A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:99057750C>A uc011kiw.2 - 1 140 c.80G>T c.(79-81)cGg>cTg p.R27L ATP5J2-PTCD1_uc003uqm.3_Missense_Mutation_p.R33L|ATP5J2-PTCD1_uc003uql.3_Missense_Mutation_p.R27L|ATP5J2-PTCD1_uc003uqo.3_Missense_Mutation_p.R33L|ATP5J2-PTCD1_uc003uqn.3_Missense_Mutation_p.R27L NM_001198879 NP_001185808 B4DJ38 B4DJ38_HUMAN Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA. 27 ACTGAAGTCCCGCATCAAGAT 0.468000 246 7 0.000274275 0.00716887 0.000274275 1 0 ZDBF2 57683 broad.mit.edu 37 2 207172439 207172439 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:207172439G>A uc002vbp.2 + 4 3437 c.3187G>A c.(3187-3189)Gaa>Aaa p.E1063K NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA. 1063 nucleic acid binding|zinc ion binding p.E1063*(3)|p.E1063K(1) endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TTTTTTGAAGGAAAAACATGT 0.323000 75 14 0 0 5.01169e-05 0 0 TNFSF15 9966 broad.mit.edu 37 9 117552881 117552881 + Missense_Mutation SNP C T T rs150498686 TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr9:117552881C>T uc004bjh.3 - 3 723 c.607G>A c.(607-609)Gaa>Aaa p.E203K TNFSF15_uc004bjg.3_Missense_Mutation_p.E144K NM_005118 NP_005109 O95150 TNF15_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA. 203 activation of NF-kappaB-inducing kinase activity|activation of caspase activity|cytokine metabolic process|immune response extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1) 11 CTACCTACTTCGCATACAGAC 0.527000 33 5 0 0 1.23904e-05 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19418703 19418703 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:19418703C>T uc001reb.3 + 7 738 c.630C>T c.(628-630)atC>atT p.I210I PLEKHA5_uc010sie.2_Silent_p.I210I|PLEKHA5_uc001rea.3_Silent_p.I210I|PLEKHA5_uc009zin.3_5'UTR|PLEKHA5_uc010sig.2_Silent_p.I102I|PLEKHA5_uc010sih.1_Silent_p.I102I|PLEKHA5_uc021qvy.1_Silent_p.I102I NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA. 210 PH. 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) AAGAGGGTATCCTGGGAAGCA 0.318000 168 26 0 0 0.000339439 0 0 DDX20 11218 broad.mit.edu 37 1 112305559 112305559 + Missense_Mutation SNP C G G rs142254105 TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:112305559C>G uc001ebs.3 + 9 1599 c.1242C>G c.(1240-1242)tgC>tgG p.C414W DDX20_uc010owf.2_Missense_Mutation_p.C176W|DDX20_uc001ebt.3_Missense_Mutation_p.C22W NM_007204 NP_009135 Q9UHI6 DDX20_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (DDX20), mRNA. 414 Helicase C-terminal. assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1) 21 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCTACTGTTGCCGGGGAGAGG 0.378000 46 5 0 0 3.59834e-05 0 0 ZNF611 81856 broad.mit.edu 37 19 53208989 53208989 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:53208989G>A uc002pzz.3 - 6 1636 c.1319C>T c.(1318-1320)tCc>tTc p.S440F ZNF611_uc010eqc.3_Missense_Mutation_p.S370F|ZNF611_uc010ydo.2_Missense_Mutation_p.S370F|ZNF611_uc010ydp.2_Missense_Mutation_p.S440F|ZNF611_uc010ydq.2_Missense_Mutation_p.S440F|ZNF611_uc010ydr.2_Missense_Mutation_p.S371F|ZNF611_uc002qaa.4_Missense_Mutation_p.S370F|ZNF611_uc021uyy.1_Missense_Mutation_p.S371F NM_030972 NP_001154973 Q8N823 ZN611_HUMAN Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA. 440 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) GCATACAAGGGATGACTTGTG 0.403000 157 10 0 0 3.86212e-05 0 0 abParts 0 broad.mit.edu 37 22 22735666 22735666 + RNA SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr22:22735666G>A uc021wml.1 + 51 c.6101G>A Parts of antibodies, mostly variable regions. TCCAGTCTGAGGATGAGGCTG 0.557000 72 7 0 0 0.00010058 0 0 NIPBL 25836 broad.mit.edu 37 5 36986309 36986309 + Silent SNP T C C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:36986309T>C uc003jkl.4 + 9 3526 c.3027T>C c.(3025-3027)tcT>tcC p.S1009S NIPBL_uc003jkk.4_Silent_p.S1009S|NIPBL_uc003jkm.1_Silent_p.S888S NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA. 1009 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) AAAAACTGTCTTTGGATGATG 0.333000 249 44 0 0 0.000147903 0 0 LAMB2 3913 broad.mit.edu 37 3 49162318 49162318 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:49162318G>A uc003cwe.3 - 20 3224 c.2925C>T c.(2923-2925)gaC>gaT p.D975D LAMB2_uc003cwf.1_Silent_p.D975D NM_002292 NP_002283 P55268 LAMB2_HUMAN Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA. 975 Laminin EGF-like 9. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GCCTTGATGGGTCCCCAAAGT 0.612000 51 5 0 0 8.12818e-05 0 0 ZNF646 9726 broad.mit.edu 37 16 31087904 31087904 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:31087904C>T uc002eap.3 + 1 548 c.259C>T c.(259-261)Ccc>Tcc p.P87S ZNF668_uc002eao.3_5'Flank|ZNF646_uc021tgu.1_Missense_Mutation_p.P87S NM_014699 NP_055514 O15015 ZN646_HUMAN Homo sapiens zinc finger protein 646 (ZNF646), mRNA. 87 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CTTCTCCAATCCCATGGCTCT 0.637000 35 11 0 0 3.86212e-05 0 0 CCK 885 broad.mit.edu 37 3 42299711 42299711 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:42299711C>T uc021wwk.1 - 2 354 c.227G>A c.(226-228)cGa>cAa p.R76Q CCK_uc003cld.1_Missense_Mutation_p.R76Q NM_001174138 NP_001167609 P06307 CCKN_HUMAN Homo sapiens cholecystokinin (CCK), transcript variant 2, mRNA. 76 axonogenesis|eating behavior|neuron migration neuropeptide hormone activity p.R76Q(2) central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1) 6 Ovarian(412;0.0728) KIRC - Kidney renal clear cell carcinoma(284;0.219) GATGGACATTCGTCCAGAAGG 0.517000 63 6 0 0 8.12818e-05 0 0 PER2 8864 broad.mit.edu 37 2 239180104 239180104 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:239180104G>A uc002vyc.3 - 5 858 c.621C>T c.(619-621)atC>atT p.I207I PER2_uc010znv.1_Silent_p.I207I|PER2_uc010znw.1_Silent_p.I207I|PER2_uc010fyx.1_Silent_p.I207I NM_022817 NP_073728 O15055 PER2_HUMAN Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA. 207 PAS 1. circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) CCTGGTCAGAGATGTACAGGA 0.522000 78 15 0 0 7.07596e-05 0 0 ERLEC1 27248 broad.mit.edu 37 2 54041754 54041754 + Missense_Mutation SNP T A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:54041754T>A uc002rxl.3 + 11 1581 c.1301T>A c.(1300-1302)cTa>cAa p.L434Q GPR75-ASB3_uc002rxi.4_Intron|ERLEC1_uc002rxm.3_Intron|ERLEC1_uc002rxn.3_Missense_Mutation_p.L380Q NM_015701 NP_056516 Q96DZ1 ERLEC_HUMAN Homo sapiens endoplasmic reticulum lectin 1 (ERLEC1), transcript variant 1, mRNA. 434 ER-associated protein catabolic process endoplasmic reticulum lumen glycoprotein binding|protein binding endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1) 18 ACTGTAAAACTAAAGTAAGTT 0.313000 34 7 0 0 0.000274275 0 0 POSTN 10631 broad.mit.edu 37 13 38153415 38153415 + Missense_Mutation SNP A G G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr13:38153415A>G uc001uwo.4 - 12 1860 c.1742T>C c.(1741-1743)gTt>gCt p.V581A POSTN_uc010tet.2_Missense_Mutation_p.V109A|POSTN_uc001uwp.4_Missense_Mutation_p.V581A|POSTN_uc001uwr.3_Missense_Mutation_p.V581A|POSTN_uc001uwq.3_Missense_Mutation_p.V581A|POSTN_uc010teu.1_Missense_Mutation_p.V581A|POSTN_uc010tev.1_Missense_Mutation_p.V581A|POSTN_uc010tew.1_Missense_Mutation_p.V581A|POSTN_uc010tex.1_Missense_Mutation_p.V496A NM_006475 NP_006466 Q15063 POSTN_HUMAN Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA. 581 FAS1 4. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) AATGTTAGTAACACCAGGTTC 0.333000 93 8 0 0 0.000274275 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136177 40136177 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:40136177G>A uc021qgf.1 - 0 1666 c.1666C>T c.(1666-1668)Cgg>Tgg p.R556W LRRC4C_uc001mxc.1_Missense_Mutation_p.R552W|LRRC4C_uc001mxd.1_Missense_Mutation_p.R552W|LRRC4C_uc001mxa.1_Missense_Mutation_p.R556W|LRRC4C_uc001mxb.1_Missense_Mutation_p.R552W NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA. 556 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TGGTTTTGCCGATGGTGCTGC 0.478000 90 6 0 0 3.59834e-05 0 0 SHISA5 51246 broad.mit.edu 37 3 48510878 48510878 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:48510878C>T uc003ctp.1 - 4 659 c.525G>A c.(523-525)caG>caA p.Q175Q SHISA5_uc003ctm.2_Silent_p.Q72Q|SHISA5_uc011bbk.1_Missense_Mutation_p.G84R|SHISA5_uc011bbl.2_Silent_p.Q73Q|SHISA5_uc003cto.1_Silent_p.Q144Q|SHISA5_uc003cts.1_Silent_p.Q144Q|SHISA5_uc003ctt.3_Silent_p.Q72Q NM_016479 NP_057563 Q8N114 SHSA5_HUMAN Homo sapiens shisa homolog 5 (Xenopus laevis) (SHISA5), mRNA. 175 Pro-rich. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|integral to membrane|nuclear membrane WW domain binding|signal transducer activity large_intestine(1)|lung(1) 2 TGTGGTAGCCCTGGTAGCTTG 0.637000 66 8 0 0 0.000157383 0 0 TUBA3D 113457 broad.mit.edu 37 2 132235846 132235846 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:132235846G>A uc002tsu.4 + 1 306 c.113G>A c.(112-114)aGt>aAt p.S38N NM_080386 NP_525125 Q13748 TBA3C_HUMAN Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA. 38 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) CAAATGCCAAGTGATAAAACC 0.557000 90 8 0 0 0.000274275 0 0 PDE1A 5136 broad.mit.edu 37 2 183066494 183066494 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:183066494C>T uc002uos.3 - 9 1057 c.973G>A c.(973-975)Gaa>Aaa p.E325K PDE1A_uc010zfp.1_Missense_Mutation_p.E221K|PDE1A_uc002uoq.1_Missense_Mutation_p.E325K|PDE1A_uc010zfq.1_Missense_Mutation_p.E325K|PDE1A_uc002uor.3_Missense_Mutation_p.E309K|PDE1A_uc002uou.3_Missense_Mutation_p.E291K NM_001003683 NP_001003683 P54750 PDE1A_HUMAN Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA. 325 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) AAAACCATTTCAATCACTAGG 0.373000 50 5 0 0 1.23904e-05 0 0 CARD11 84433 broad.mit.edu 37 7 2963915 2963915 + Missense_Mutation SNP T C C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:2963915T>C uc003smv.3 - 14 2226 c.1892A>G c.(1891-1893)tAc>tGc p.Y631C NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 631 T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CTCCAGGTCGTAGGCATCCAG 0.592000 Mis DLBCL 39 4 0 0 0.00024832 0 0 CWH43 80157 broad.mit.edu 37 4 49034687 49034687 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr4:49034687C>T uc003gyv.3 + 11 1795 c.1613C>T c.(1612-1614)tCg>tTg p.S538L CWH43_uc011bzl.2_Missense_Mutation_p.S511L NM_025087 NP_079363 Q9H720 PG2IP_HUMAN Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA. 538 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 GTTAACATTTCGGGCAAGCTG 0.458000 87 12 0 0 0.000219431 0 0 LRWD1 222229 broad.mit.edu 37 7 102109094 102109094 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:102109094C>T uc003uzn.3 + 7 1151 c.1013C>T c.(1012-1014)cCc>cTc p.P338L MIR4467_uc022ajg.1_5'Flank NM_152892 NP_690852 Q9UFC0 LRWD1_HUMAN Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA. 338 DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin chromatin binding|methyl-CpG binding|methylated histone residue binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2) 20 TACAAGGCACCCGGCGAGGTG 0.662000 5 3 0 0 0.00024832 0 0 OR51L1 119682 broad.mit.edu 37 11 5020679 5020679 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:5020679G>A uc010qyu.2 + 0 467 c.467G>A c.(466-468)gGa>gAa p.G156E NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA. 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CGAAGCTTGGGAGTTGTACTT 0.483000 128 39 0 0 0.000228196 0 0 ENPP7 339221 broad.mit.edu 37 17 77709192 77709192 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:77709192G>A uc002jxa.3 + 2 770 c.750G>A c.(748-750)acG>acA p.T250T NM_178543 NP_848638 Q6UWV6 ENPP7_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA. 250 negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity p.T250T(2) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) ACGGCATGACGACCGTGGACA 0.607000 61 7 0 0 0.000274275 0 0 COL19A1 1310 broad.mit.edu 37 6 70851968 70851968 + Splice_Site SNP G T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:70851968G>T uc003pfc.1 + 22 1689 c.1572_splice c.e22+1 p.K524_splice COL19A1_uc010kam.2_Splice_Site_p.K420_splice NM_001858 NP_001849 Q14993 COJA1_HUMAN Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA. 524 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 CAGGACTAAAGGTATATAAGA 0.398000 28 7 1.76689e-08 4.8232e-07 2.17888e-05 1 0 PLXNA1 5361 broad.mit.edu 37 3 126737355 126737356 + Missense_Mutation DNP CC AT AT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:126737355_126737356CC>AT uc003ejg.3 + 18 3879_3880 c.3879_3880CC>AT c.(3877-3882)gccctc>gcATtc p.L1294F NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN Homo sapiens plexin A1 (PLXNA1), mRNA. 1294 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity p.G1293S(1) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CCCGCGTGGCCCTCGAATGCAA 0.649000 7 7 0 0 6.4e-05 0 0 PKD1L2 114780 broad.mit.edu 37 16 81232478 81232478 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:81232478G>A uc002fgh.1 - 6 1332 c.1332C>T c.(1330-1332)gtC>gtT p.V444V PKD1L2_uc002fgj.3_Silent_p.V444V NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 444 REJ. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CCACCAAGTGGACTGTAATGT 0.562000 130 9 0 0 6.40141e-05 0 0 FGD2 221472 broad.mit.edu 37 6 36981805 36981805 + Missense_Mutation SNP G C C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:36981805G>C uc010jwp.1 + 5 923 c.752G>C c.(751-753)cGt>cCt p.R251P FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_5'UTR|FGD2_uc003oni.1_Missense_Mutation_p.R57P NM_173558 NP_775829 Q7Z6J4 FGD2_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA. 251 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 AGAATTCCACGTTACGAGCTG 0.647000 67 13 0 0 0.000151284 0 0 DHFR 1719 broad.mit.edu 37 5 79924953 79924953 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:79924953C>T uc003kgy.1 - 5 1009 c.517G>A c.(517-519)Gag>Aag p.E173K DHFR_uc011ctl.2_3'UTR|DHFR_uc011ctm.2_Non-coding_Transcript|DHFR_uc010jap.2_Non-coding_Transcript NM_000791 NP_000782 P00374 DYR_HUMAN Homo sapiens dihydrofolate reductase (DHFR), mRNA. 173 DHFR. folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process cytosol NADP binding|dihydrofolate reductase activity|drug binding|folate reductase activity kidney(1)|large_intestine(1) 2 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35) Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157) ATGCCTTTCTCCTCCTGGACA 0.333000 24 5 0 0 3.59834e-05 0 0 LOC644669 644669 broad.mit.edu 37 18 15316727 15316727 + RNA SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr18:15316727G>A uc002ktd.1 - 4 c.307C>T Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA. TTTCTGCCAAGGGTGCAGCCT 0.418000 17 4 0 0 3.59834e-05 0 0 CDC25C 995 broad.mit.edu 37 5 137621477 137621477 + Silent SNP A G G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:137621477A>G uc003lcs.1 - 13 1760 c.1560T>C c.(1558-1560)acT>acC p.T520T CDC25C_uc003lcp.1_Silent_p.T442T|CDC25C_uc003lcq.1_Silent_p.T369T|CDC25C_uc003lcr.1_Silent_p.T442T|CDC25C_uc011cyp.1_Silent_p.T459T NM_001790 NP_001781 P30307 MPIP3_HUMAN Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA. 442 DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm WW domain binding|protein tyrosine phosphatase activity endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) TCAGCAACTCAGTCTTGTGGT 0.527000 99 6 0 0 8.12818e-05 0 0 NSD1 64324 broad.mit.edu 37 5 176721292 176721292 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:176721292C>T uc003mfr.4 + 22 7061 c.6923C>T c.(6922-6924)tCc>tTc p.S2308F NSD1_uc003mft.4_Missense_Mutation_p.S2039F|NSD1_uc011dfx.2_Missense_Mutation_p.S1956F|NSD1_uc021yip.1_Missense_Mutation_p.S132F NM_022455 NP_071900 Q96L73 NSD1_HUMAN Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA. 2308 Pro-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AAATCCCAATCCTTGGTTTCC 0.577000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 57 6 0 0 3.59834e-05 0 0 KCNH1 3756 broad.mit.edu 37 1 210857140 210857140 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:210857140C>T uc001hib.2 - 10 2623 c.2453G>A c.(2452-2454)gGg>gAg p.G818E KCNH1_uc001hic.2_Missense_Mutation_p.G791E NM_172362 NP_758872 O95259 KCNH1_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA. 818 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) GCACTCGGACCCTGGCGCCTG 0.667000 62 19 0 0 0.000229342 0 0 CPT1C 126129 broad.mit.edu 37 19 50216782 50216782 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:50216782G>A uc010eng.3 + 19 2648 c.2332G>A c.(2332-2334)Gag>Aag p.E778K CPT1C_uc002ppk.3_Missense_Mutation_p.E767K|CPT1C_uc010enh.3_Missense_Mutation_p.E778K|CPT1C_uc002ppj.3_Missense_Mutation_p.E778K|CPT1C_uc010eni.1_Missense_Mutation_p.E346K NM_001199753 NP_001186682 Q8TCG5 CPT1C_HUMAN Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA. 778 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) GTCAGGGAAGGAGAACTCCAG 0.607000 79 13 0 0 0.000151284 0 0 CHRNA6 8973 broad.mit.edu 37 8 42611523 42611523 + Silent SNP C T T rs140821226 byFrequency TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:42611523C>T uc003xpj.3 - 4 1175 c.819G>A c.(817-819)acG>acA p.T273T CHRNA6_uc011lcw.2_Silent_p.T258T NM_004198 NP_004189 Q15825 ACHA6_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 6 (CHRNA6), transcript variant 1, mRNA. 273 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1) 22 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) AAATACAAAGCGTCACTTTTT 0.443000 44 7 0 0 0.000274275 0 0 SIGLEC6 946 broad.mit.edu 37 19 52023452 52023452 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:52023452G>A uc002pwy.3 - 7 1454 c.1246C>T c.(1246-1248)Ccc>Tcc p.P416S SIGLEC6_uc002pwz.3_Missense_Mutation_p.P400S|SIGLEC6_uc010ydb.2_Missense_Mutation_p.P364S|SIGLEC6_uc010ydc.2_3'UTR|SIGLEC6_uc002pxa.3_3'UTR|SIGLEC6_uc010eoz.2_3'UTR NM_001245 NP_001236 O43699 SIGL6_HUMAN Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA. 416 cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus p.T415T(1) endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) TCTGAGATGGGGCCAGCCTCA 0.502000 201 20 0 0 0.000229342 0 0 F13A1 2162 broad.mit.edu 37 6 6318852 6318852 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:6318852G>A uc003mwv.3 - 1 169 c.46C>T c.(46-48)Cca>Tca p.P16S F13A1_uc011dib.2_Missense_Mutation_p.P16S NM_000129 NP_000120 P00488 F13A_HUMAN Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA. 16 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TTATTGGGTGGAACTGCTCTT 0.498000 146 49 0 0 0.000147903 0 0 STAG2 10735 broad.mit.edu 37 X 123200028 123200028 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chrX:123200028C>T uc004eua.3 + 21 2504 c.2100C>T c.(2098-2100)gcC>gcT p.A700A STAG2_uc004etz.4_Silent_p.A700A|STAG2_uc004eub.3_Silent_p.A700A|STAG2_uc004euc.3_Silent_p.A700A|STAG2_uc004eud.3_Silent_p.A700A|STAG2_uc004eue.3_Silent_p.A700A NM_001042749 NP_001036215 Q8N3U4 STAG2_HUMAN Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA. 700 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 tttACAGTGCCCATGACCTTT 0.299000 45 12 0 0 6.40141e-05 0 0 TPM3 7170 broad.mit.edu 37 1 154164430 154164430 + Missense_Mutation SNP C A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:154164430C>A uc001fec.1 - 0 180 c.65G>T c.(64-66)cGg>cTg p.R22L NM_152263 NP_689476 P06753 TPM3_HUMAN Homo sapiens tropomyosin 3 (TPM3), transcript variant 1, mRNA. 21 cellular component movement|muscle filament sliding|regulation of muscle contraction cytosol|muscle thin filament tropomyosin|stress fiber actin binding TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33) breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) TTGCTCTGCCCGATCCAGAGC 0.488000 T """NTRK1, ALK, ROS1""" """papillary thyroid, ALCL, NSCLC""" 128 8 0.000274275 0.00716887 0.000274275 1 0 PRDM9 56979 broad.mit.edu 37 5 23509604 23509604 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:23509604C>T uc003jgo.3 + 2 277 c.95C>T c.(94-96)tCc>tTc p.S32F NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN Homo sapiens PR domain containing 9 (PRDM9), mRNA. 32 KRAB-related. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.S32T(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AAAGACATTTCCATATACTTC 0.413000 HNSCC(3;0.000094) 170 28 0 0 8.91981e-05 0 0 LRCH1 23143 broad.mit.edu 37 13 47315858 47315859 + Missense_Mutation DNP GG TT TT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr13:47315858_47315859GG>TT uc001vbk.3 + 19 2403_2404 c.2167_2168GG>TT c.(2167-2169)ggg>TTg p.G723L LRCH1_uc001vbj.3_Missense_Mutation_p.G688L|LRCH1_uc001vbl.4_Intron|LRCH1_uc021rjj.1_Non-coding_Transcript NM_001164211 NP_001157683 Q9Y2L9 LRCH1_HUMAN Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 1 (LRCH1), transcript variant 1, mRNA. 688 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) GCTGGCACTCGGGGAGAAAGCC 0.515000 339 7 0 0 6.4e-05 0 0 THSD7A 221981 broad.mit.edu 37 7 11632979 11632979 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:11632979G>A uc021zzo.1 - 2 1425 c.1173C>T c.(1171-1173)acC>acT p.T391T THSD7A_uc021zzn.1_Silent_p.T391T NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA. 391 TSP type-1 3. integral to membrane p.R390*(1) NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ACTGCCTGATGGTTCGTGTCC 0.517000 HNSCC(18;0.044) 54 6 0 0 0.000157383 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55354372 55354373 + Splice_Site DNP CG AT AT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:55354372_55354373CG>AT uc002qhm.1 + 6 737 c.691_splice c.e6+1 p.G231_splice KIR3DL2_uc010yfk.1_Splice_Site|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Intron|KIR3DL2_uc002qhn.1_Intron NM_012314 NP_036446 P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA. 334 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) GCTCCAAAACCGGTGAGTACAG 0.500000 205 6 0 0 6.4e-05 0 0 FOXA3 3171 broad.mit.edu 37 19 46375598 46375598 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:46375598C>T uc002pdr.3 + 1 532 c.335C>T c.(334-336)cCc>cTc p.P112L NM_004497 NP_004488 P55318 FOXA3_HUMAN Homo sapiens forkhead box A3 (FOXA3), mRNA. 112 RPL -> AP (in Ref. 1; AAA58477). brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1) 13 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236) TATCGGCGGCCCCTGGCACAC 0.647000 50 13 0 0 0.000308642 0 0 OR10X1 128367 broad.mit.edu 37 1 158548760 158548760 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:158548760C>T uc010pin.2 - 0 930 c.930G>A c.(928-930)atG>atA p.M310I NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA. 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M310I(2) breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) AAGCATTTTTCATGTCCTTAT 0.438000 110 27 0 0 7.16444e-05 0 0 TCIRG1 10312 broad.mit.edu 37 11 67816662 67816662 + Nonsense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:67816662G>A uc001one.3 + 14 1917 c.1788G>A c.(1786-1788)tgG>tgA p.W596* TCIRG1_uc001ong.3_Nonsense_Mutation_p.W380*|TCIRG1_uc009ysd.3_5'Flank NM_006019 NP_006044 Q13488 VPP3_HUMAN Homo sapiens T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (TCIRG1), transcript variant 1, mRNA. 596 ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity p.V595A(1) breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1) 16 TGTGTGTCTGGGCTGCCAGGG 0.627000 91 11 0 0 3.86212e-05 0 0 CENPN 55839 broad.mit.edu 37 16 81060211 81060211 + Missense_Mutation SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:81060211C>T uc002ffy.4 + 8 1568 c.778C>T c.(778-780)Cct>Tct p.P260S CENPN_uc002ffx.2_Missense_Mutation_p.P260S|CENPN_uc010vnl.1_Missense_Mutation_p.P226S|CENPN_uc010vnm.1_Missense_Mutation_p.P240S NM_001100625 NP_001094095 Q96H22 CENPN_HUMAN Homo sapiens centromere protein N (CENPN), transcript variant 1, mRNA. 260 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm breast(1)|large_intestine(5)|lung(4) 10 TGGAGATTATCCTCAACCACA 0.308000 157 11 0 0 0.00010058 0 0 MYO5B 4645 broad.mit.edu 37 18 47518707 47518708 + Missense_Mutation DNP CC AA AA TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr18:47518707_47518708CC>AA uc002leb.2 - 5 994_995 c.706_707GG>TT c.(706-708)ggg>TTg p.G236L MYO5B_uc021ukb.1_Missense_Mutation_p.G235L NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 236 Myosin head-like. protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CATGTTGGCCCCGATGATGTGG 0.495000 231 8 0 0 6.4e-05 0 0 MYO1H 283446 broad.mit.edu 37 12 109882024 109882024 + Missense_Mutation SNP C G G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:109882024C>G uc010sxn.1 + 27 2783 c.2783C>G c.(2782-2784)tCc>tGc p.S928C MYO1H_uc010sxo.1_Missense_Mutation_p.S119C NM_001101421 NP_001094891 B4DNW6 B4DNW6_HUMAN Homo sapiens myosin IH (MYO1H), mRNA. 119 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 TAAGGTGTCTCCACTAGCAAT 0.463000 114 11 0 0 6.40141e-05 0 0 GOT1 2805 broad.mit.edu 37 10 101163546 101163546 + Missense_Mutation SNP T C C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:101163546T>C uc001kpr.3 - 5 936 c.728A>G c.(727-729)tAt>tGt p.Y243C NM_002079 NP_002070 P17174 AATC_HUMAN Homo sapiens glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1) (GOT1), mRNA. 243 aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus cytosol L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2) 16 Ovarian(717;0.028)|Colorectal(252;0.234) Epithelial(162;4.76e-10)|all cancers(201;3.84e-08) L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AGACACAAAATAGCGAATGGC 0.542000 49 4 0 0 1.23904e-05 0 0 PTCD2 79810 broad.mit.edu 37 5 71648498 71648498 + Missense_Mutation SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:71648498G>A uc003kcb.3 + 8 869 c.859G>A c.(859-861)Gaa>Aaa p.E287K PTCD2_uc011csf.1_Missense_Mutation_p.E97K|PTCD2_uc003kcc.3_Missense_Mutation_p.E135K|PTCD2_uc011csg.2_Missense_Mutation_p.E115K|PTCD2_uc011csh.2_Missense_Mutation_p.E178K|PTCD2_uc003kcd.3_Non-coding_Transcript NM_024754 NP_079030 Q8WV60 PTCD2_HUMAN Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA. 287 breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1) 11 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.73e-53) AAATATGTTGGAAAACCTGAT 0.363000 38 13 0 0 0.00010058 0 0 CACNG2 10369 broad.mit.edu 37 22 36960482 36960482 + Silent SNP G A A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr22:36960482G>A uc003aps.2 - 3 957 c.888C>T c.(886-888)ttC>ttT p.F296F NM_006078 NP_006069 Q9Y698 CCG2_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA. 296 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 GAACCTGGAGGAAGCTGTTAT 0.612000 80 17 0 0 0.000422831 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140235762 140235762 + Silent SNP C T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:140235762C>T uc003lhx.2 + 0 129 c.129C>T c.(127-129)ttC>ttT p.F43F PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Silent_p.F43F|PCDHAC2_uc011dad.2_Silent_p.F43F NM_018901 NP_061724 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA. 57 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGGCACCTTCGTGGGCCGCA 0.657000 78 8 0 0 0.000274275 0 0 FAM160A2 84067 broad.mit.edu 37 11 6235700 6235700 + Missense_Mutation SNP T C C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:6235700T>C uc001mck.4 - 10 2899 c.2540A>G c.(2539-2541)aAg>aGg p.K847R FAM160A2_uc001mcl.4_Missense_Mutation_p.K833R NM_032127 NP_115503 Q8N612 F16A2_HUMAN Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA. 833 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CCAGTCCAACTTGCCACGGGC 0.592000 113 13 0 0 0.000151284 0 0 ZNF214 7761 broad.mit.edu 37 11 7022610 7022611 + Missense_Mutation DNP GG TT TT TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:7022610_7022611GG>TT uc009yfh.1 - 2 602_603 c.303_304CC>AA c.(301-306)tcccag>tcAAag p.Q102K ZNF214_uc001mfa.2_Missense_Mutation_p.Q102K|ZNF214_uc010ray.1_Missense_Mutation_p.Q102K NM_013249 NP_037381 Q9UL59 ZN214_HUMAN Homo sapiens zinc finger protein 214 (ZNF214), mRNA. 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) TCCTGACACTGGGAACGATCTT 0.431000 405 11 0 0 6.4e-05 0 0 EIF2AK3 9451 broad.mit.edu 37 2 88874269 88874270 + Frame_Shift_Del DEL CT - - TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:88874269_88874270delCT uc002stc.4 - 12 3033_3034 c.2731_2732delAG c.(2731-2733)aggfs p.R911fs NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA. 911 Protein kinase. ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 ACACACGCTCCTCTCTCTCTCC 0.465 --- 768 --- --- 8 --- CCDC148 130940 broad.mit.edu 37 2 159107283 159107284 + Splice_Site INS - T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:159107283_159107284insT uc002tzq.3 - 10 1565 c.1251_splice c.e10+1 p.K417_splice CCDC148_uc002tzr.3_Splice_Site_p.K265_splice|CCDC148_uc010foh.3_Splice_Site_p.K130_splice NM_138803 NP_620158 Q8NFR7 CC148_HUMAN Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA. 417 Glu/Lys-rich. endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 AGATtttttactttttttttct 0.361 --- 4 --- --- 2 --- TAP2 6891 broad.mit.edu 37 6 32797702 32797707 + Splice_Site DEL GATACC - - TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:32797702_32797707delGATACC uc011dqf.1 - 10 1917 c.1795_splice c.e10+1 p.D599_splice TAP2_uc003ocb.1_Splice_Site_p.D599_splice|TAP2_uc003occ.3_Splice_Site_p.D599_splice|TAP2_uc003ocd.3_Splice_Site_p.D599_splice NM_018833 NP_061313 Q03519 TAP2_HUMAN Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA. 599 ABC transporter. antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I TAP complex|nucleus|plasma membrane ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding ATTTGTAGAAGATACCTGTGTATATT 0.466 --- 154 --- --- 15 --- RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG - - rs60664426 TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:42989414_42989419delGCCGGG uc003otp.1 + 0 30_35 c.22_27delGCCGGG c.(22-27)gccgggdel p.AG14del NM_033112 NP_149103 Q96EU6 RRP36_HUMAN Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA. 14 rRNA processing|ribosomal small subunit biogenesis nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 --- 7 --- --- 5 --- KANK1 23189 broad.mit.edu 37 9 738412 738414 + In_Frame_Del DEL TCA - - TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr9:738412_738414delTCA uc003zgl.1 + 11 4110_4112 c.3461_3463delTCA c.(3460-3465)gtcatc>gtc p.I1155del KANK1_uc003zgn.1_In_Frame_Del_p.I1155del|KANK1_uc003zgs.1_In_Frame_Del_p.I997del|KANK1_uc010mgx.1_In_Frame_Del_p.I133del|KANK1_uc010mgy.1_In_Frame_Del_p.I67del|KANK1_uc003zgt.1_In_Frame_Del_p.I67del NM_015158 NP_055973 Q14678 KANK1_HUMAN Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA. 1155 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) CTCCGCTATGTCATCAACTTGGC 0.547 --- 164 --- --- 7 --- B2M 567 broad.mit.edu 37 15 45007783 45007800 + In_Frame_Del DEL GCAAGGACTGGTCTTTCT - - TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr15:45007783_45007800delGCAAGGACTGGTCTTTCT uc001zuc.3 + 1 290_307 c.230_247delGCAAGGACTGGTCTTTCT c.(229-249)agcaaggactggtctttctat>aat p.77_83SKDWSFY>N B2M_uc010uek.1_In_Frame_Del_p.77_83SKDWSFY>N|B2M_uc010bdx.1_Intron NM_004048 NP_004039 P61769 B2MG_HUMAN Homo sapiens beta-2-microglobulin (B2M), mRNA. 77 Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction Golgi membrane|MHC class I protein complex|early endosome membrane protein binding p.F82V(2)|p.W80*(2)|p.Y83*(1) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 59 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) TTGTCTTTCAGCAAGGACTGGTCTTTCTATCTCTTGTA 0.431 --- 87 --- --- 8 --- HCN4 10021 broad.mit.edu 37 15 73660195 73660195 + Frame_Shift_Del DEL G - - TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr15:73660195delG uc002avp.3 - 0 1411 c.417delC c.(415-417)cccfs p.P139fs NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA. 139 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) TGTCCTCGCCGGGGGACGCGT 0.816 --- 4 --- --- 2 --- C16orf58 64755 broad.mit.edu 37 16 31519172 31519172 + Frame_Shift_Del DEL G - - TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:31519172delG uc002eci.2 - 1 340 c.328delC c.(328-330)ctafs p.L110fs C16orf58_uc010vfq.1_Intron NM_022744 NP_073581 Q96GQ5 CP058_HUMAN Homo sapiens chromosome 16 open reading frame 58 (C16orf58), mRNA. 110 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1) 14 TGGGTGGCTAGGGAGCCGGAG 0.597 --- 4 --- --- 2 --- HIC1 3090 broad.mit.edu 37 17 1960405 1960407 + In_Frame_Del DEL GGC - - TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:1960405_1960407delGGC uc010cjy.3 + 1 478_480 c.478_480delGGC c.(478-480)ggcdel p.G167del HIC1_uc002fty.4_In_Frame_Del_p.G148del|HIC1_uc002ftz.4_In_Frame_Del_p.G148del|HIC1_uc021tnn.1_In_Frame_Del_p.G148del NM_001098202 NP_006488 Q14526 HIC1_HUMAN Homo sapiens hypermethylated in cancer 1 (HIC1), transcript variant 2, mRNA. 167 Poly-Gly. multicellular organismal development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|lung(1)|prostate(1) 3 READ - Rectum adenocarcinoma(1115;0.236) CCACCTGCGGggcggcggcggcg 0.764 --- 4 --- --- 2 --- DNAH17 8632 broad.mit.edu 37 17 76522976 76522977 + Frame_Shift_Ins INS - T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:76522976_76522977insT uc010dhp.2 - 22 3734_3735 c.3609_3610insA c.(3607-3612)aaatgcfs p.K1203fs NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AATTGCTGGCATTTCCGCCGCA 0.629 --- 4 --- --- 2 --- LMAN1 3998 broad.mit.edu 37 18 57013193 57013194 + Frame_Shift_Ins INS - T T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr18:57013193_57013194insT uc002lhz.3 - 7 944_945 c.912_913insA c.(910-915)aaagagfs p.K304fs NM_005570 NP_005561 P49257 LMAN1_HUMAN Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA. 304 ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) TGGAATTCCTCTTTTTTTTTAT 0.455 --- 138 --- --- 7 ---