Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ALB 213 broad.mit.edu 37 4 74279157 74279157 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr4:74279157C>T ENST00000295897.4 + 8 953 c.864C>T c.(862-864)atC>atT p.I288I ALB_ENST00000503124.1_Silent_p.I138I|ALB_ENST00000415165.2_Silent_p.I96I|ALB_ENST00000509063.1_Silent_p.I288I|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Silent_p.I173I NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 288 Albumin 2. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) CCAAGTATATCTGTGAAAATC 0.403000 31 44 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152381062 152381062 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:152381062C>G ENST00000397345.3 - 152 22543 c.22341G>C c.(22339-22341)aaG>aaC p.K7447N NEB_ENST00000409198.1_Missense_Mutation_p.K5746N|NEB_ENST00000604864.1_Missense_Mutation_p.K7447N|NEB_ENST00000603639.1_Missense_Mutation_p.K7447N|NEB_ENST00000172853.10_Missense_Mutation_p.K5746N|NEB_ENST00000427231.2_Missense_Mutation_p.K7447N NM_001164508.1 NP_001157980 P20929 NEBU_HUMAN nebulin 5746 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GTGTGGCCTTCTTGATGTCTG 0.498000 73 124 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113190963 113190963 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:113190963C>G ENST00000302558.3 - 1 259 c.68G>C c.(67-69)cGa>cCa p.R23P RGPD8_ENST00000409750.1_Intron|RGPD8_ENST00000330575.5_Missense_Mutation_p.R23P NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 ACTCACCTGTCGAGGCGACGG 0.746000 25 39 0 0 1 0 0 LINS 55180 broad.mit.edu 37 15 101109548 101109548 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:101109548G>C ENST00000314742.8 - 7 2391 c.2169C>G c.(2167-2169)atC>atG p.I723M NM_001040616.2 NP_001035706 Q8NG48 LINES_HUMAN lines homolog (Drosophila) 723 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 GCAAACGGCAGATGGCATCTT 0.353000 37 70 0 0 1 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 3 73 0 0 1 0 0 LMLN 89782 broad.mit.edu 37 3 197701923 197701923 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:197701923G>A ENST00000330198.4 + 3 350 c.328G>A c.(328-330)Gag>Aag p.E110K LMLN_ENST00000420910.2_Missense_Mutation_p.E110K|LMLN_ENST00000482695.1_Missense_Mutation_p.E58K|LMLN_ENST00000332636.5_Missense_Mutation_p.E58K NM_033029.3 NP_149018.2 Q96KR4 LMLN_HUMAN leishmanolysin-like (metallopeptidase M8 family) 110 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) GTTGCTCCCTGAGAAAAAGAA 0.303000 28 69 0 0 1 0 0 C8orf37 157657 broad.mit.edu 37 8 96281381 96281381 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr8:96281381C>G ENST00000286688.5 - 1 48 c.37G>C c.(37-39)Gag>Cag p.E13Q KB-1047C11.2_ENST00000521905.1_lincRNA NM_177965.3 NP_808880.1 Q96NL8 CH037_HUMAN chromosome 8 open reading frame 37 13 kidney(1)|large_intestine(1)|lung(5) 7 Breast(36;3.41e-05) AACTTGGACTCGACTTCATCC 0.592000 OREG0018873 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 82 247 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8782742 8782742 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:8782742G>A ENST00000378641.3 + 32 3938 c.3463G>A c.(3463-3465)Gag>Aag p.E1155K PLCB1_ENST00000378637.2_Missense_Mutation_p.E1155K|PLCB1_ENST00000338037.6_Intron NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 0 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|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 acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|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 AACTTGCCATGAGGATCCCTC 0.517000 25 62 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111696872 111696872 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:111696872C>G ENST00000435970.1 - 15 3268 c.2452G>C c.(2452-2454)Gac>Cac p.D818H REV3L_ENST00000368802.3_Missense_Mutation_p.D896H|REV3L_ENST00000368805.1_Missense_Mutation_p.D896H|REV3L_ENST00000358835.3_Missense_Mutation_p.D896H O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 896 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AAGTGACAGTCTATAAAACCA 0.368000 DNA polymerases (catalytic subunits) 6 53 0 0 1 0 0 MIR200A 406983 broad.mit.edu 37 1 1103283 1103283 + RNA SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:1103283C>T ENST00000384875.1 + 0 41 NR_029834.1 TGCTGGATTTCCCAGCTTGAC 0.637000 5 7 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8615474 8615474 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:8615474C>T ENST00000338257.8 - 9 1143 c.876G>A c.(874-876)ggG>ggA p.G292G NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 292 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 GGGCGTAATTCCCGTCTTCAC 0.607000 34 75 0 0 1 0 0 SLC13A1 6561 broad.mit.edu 37 7 122769443 122769443 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:122769443G>A ENST00000194130.2 - 9 1064 c.1025C>T c.(1024-1026)cCa>cTa p.P342L SLC13A1_ENST00000539873.1_3'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 342 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) TTACCTTATTGGCCCAAGCTT 0.418000 21 27 0 0 1 0 0 LAMC3 10319 broad.mit.edu 37 9 133948634 133948634 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:133948634G>C ENST00000361069.4 + 20 3553 c.3420G>C c.(3418-3420)gaG>gaC p.E1140D LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 1140 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) TTCTACAGGAGATTCCTCAGG 0.577000 15 33 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) 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 3 17 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 10996617 10996617 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:10996617C>G ENST00000324288.8 + 8 864 c.731C>G c.(730-732)tCt>tGt p.S244C CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.S195C NM_000246.3 NP_000237 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 244 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 activating transcription factor binding|ATP 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 TGGCAAATCTCTGAGGCTGGA 0.592000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 25 46 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231110622 231110622 + Nonsense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:231110622G>T ENST00000392045.3 + 7 823 c.709G>T c.(709-711)Gaa>Taa p.E237* SP140_ENST00000343805.6_Intron|SP140_ENST00000486687.2_Intron|SP140_ENST00000417495.3_Nonsense_Mutation_p.E234*|SP140_ENST00000420434.3_Nonsense_Mutation_p.E237*|SP140_ENST00000350136.5_Nonsense_Mutation_p.E217* NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 237 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AGAATCAGAAGAAATGCCCAA 0.373000 11 52 2.94398e-08 3.09348e-08 1 1 0 REV3L 5980 broad.mit.edu 37 6 111696839 111696839 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:111696839C>G ENST00000435970.1 - 15 3301 c.2485G>C c.(2485-2487)Gag>Cag p.E829Q REV3L_ENST00000368802.3_Missense_Mutation_p.E907Q|REV3L_ENST00000368805.1_Missense_Mutation_p.E907Q|REV3L_ENST00000358835.3_Missense_Mutation_p.E907Q O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 907 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AAGGACTGCTCAGTTTCTAAC 0.378000 DNA polymerases (catalytic subunits) 4 57 0 0 1 0 0 VPREB1 7441 broad.mit.edu 37 22 22599468 22599468 + Missense_Mutation SNP A A T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr22:22599468A>T ENST00000403807.3 + 2 296 c.157A>T c.(157-159)Agc>Tgc p.S53C VPREB1_ENST00000302273.2_Missense_Mutation_p.S52C P12018 VPREB_HUMAN pre-B lymphocyte 1 53 Complementarity-determining-1.|Ig-like V-type. immune response extracellular region antigen binding|protein binding large_intestine(1)|liver(1)|lung(6)|skin(1) 9 all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155) all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52) READ - Rectum adenocarcinoma(21;0.145) CGGTGTGTACAGCGTCTACTG 0.627000 6 430 0 0 1 0 0 MSH5-SAPCD1 100532732 broad.mit.edu 37 6 31708290 31708290 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:31708290G>A ENST00000493662.2 + 2 103 c.47G>A c.(46-48)aGa>aAa p.R16K MSH5_ENST00000534153.4_Missense_Mutation_p.R16K|MSH5_ENST00000375755.3_Missense_Mutation_p.R16K|MSH5_ENST00000375703.3_Missense_Mutation_p.R16K|MSH5_ENST00000375750.3_Missense_Mutation_p.R16K|MSH5_ENST00000375742.3_Missense_Mutation_p.R16K|MSH5_ENST00000375740.3_Missense_Mutation_p.R16K|MSH5_ENST00000482280.1_3'UTR CAGGGACCGAGACCTGGGGCG 0.677000 3 5 0 0 1 0 0 CLEC4C 170482 broad.mit.edu 37 12 7883463 7883463 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:7883463C>T ENST00000542353.1 - 6 917 c.427G>A c.(427-429)Ggg>Agg p.G143R CLEC4C_ENST00000354629.5_Missense_Mutation_p.G112R|CLEC4C_ENST00000540085.1_Missense_Mutation_p.G112R|CLEC4C_ENST00000360345.3_Missense_Mutation_p.G143R NM_130441.2 NP_569708.1 Q8WTT0 CLC4C_HUMAN C-type lectin domain family 4, member C 143 C-type lectin. innate immune response integral to membrane sugar binding autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Kidney(36;0.0915) TCTGACAGCCCCAGAAAATAA 0.448000 33 76 0 0 1 0 0 GATA5 140628 broad.mit.edu 37 20 61041539 61041539 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:61041539C>T ENST00000252997.2 - 4 829 c.768G>A c.(766-768)cgG>cgA p.R256R NM_080473.4 NP_536721.1 Q9BWX5 GATA5_HUMAN GATA binding protein 5 256 blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter nucleoplasm sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding kidney(1)|lung(3)|ovary(1)|stomach(1) 6 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;3.08e-06) CCTCCGAGTTCCGCCGCCACA 0.706000 7 10 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92471337 92471337 + Nonsense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:92471337G>A ENST00000267622.4 - 11 3356 c.2983C>T c.(2983-2985)Caa>Taa p.Q995* NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 995 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TTTGTTTCTTGAAAAATATCA 0.323000 T PDGFRB AML 5 24 0 0 1 0 0 CDON 50937 broad.mit.edu 37 11 125859579 125859579 + Missense_Mutation SNP T T G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:125859579T>G ENST00000392693.3 - 15 2853 c.2726A>C c.(2725-2727)gAa>gCa p.E909A CDON_ENST00000263577.7_Missense_Mutation_p.E909A|CDON_ENST00000531738.1_Missense_Mutation_p.E286A NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 909 Fibronectin type-III 3. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) TTCTCCTCCTTCATTGAAGCA 0.403000 5 110 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 71130439 71130439 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:71130439G>A ENST00000333538.5 + 7 1758 c.1124G>A c.(1123-1125)cGg>cAg p.R375Q WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 375 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CCTTGCTCACGGGTGGCCCAC 0.517000 5 75 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9916214 9916214 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:9916214C>G ENST00000396573.2 - 11 2384 c.2075G>C c.(2074-2076)aGa>aCa p.R692T GRIN2A_ENST00000330684.3_Missense_Mutation_p.R692T|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R535T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R692T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R692T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R692T NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 692 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCGAATGTTTCTCTCCGTGCT 0.458000 27 101 0 0 1 0 0 CDH1 999 broad.mit.edu 37 16 68845691 68845691 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:68845691G>A ENST00000261769.5 + 7 1128 c.937G>A c.(937-939)Gac>Aac p.D313N CDH1_ENST00000422392.2_Missense_Mutation_p.D313N|CDH1_ENST00000562836.1_3'UTR NM_004360.3 NP_004351.1 P12830 CADH1_HUMAN cadherin 1, type 1, E-cadherin (epithelial) 313 Cadherin 2. adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(1) NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) TGAGCTCCCTGACAAAAATAT 0.542000 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 23 37 0 0 1 0 0 ARHGAP12 94134 broad.mit.edu 37 10 32096725 32096725 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:32096725T>C ENST00000375250.5 - 18 2553 c.2312A>G c.(2311-2313)tAt>tGt p.Y771C ARHGAP12_ENST00000311380.4_Missense_Mutation_p.Y749C|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.Y801C|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.Y749C|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.Y796C NM_001270696.1|NM_001270698.1 NP_001257625.1|NP_001257627.1 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 801 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) TATACTCTGATAGGTCATTCG 0.328000 12 30 0 0 1 0 0 SCAPER 49855 broad.mit.edu 37 15 76797229 76797229 + Silent SNP A A G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:76797229A>G ENST00000538941.2 - 24 3126 c.2187T>C c.(2185-2187)aaT>aaC p.N729N SCAPER_ENST00000324767.7_Silent_p.N975N|SCAPER_ENST00000563290.1_Silent_p.N975N NM_001145923.1 NP_001139395.1 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 974 Glu-rich. endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 CTGTGTTCACATTTGTGGCTG 0.383000 13 23 0 0 1 0 0 UBR2 23304 broad.mit.edu 37 6 42626436 42626436 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:42626436G>A ENST00000372899.1 + 29 3374 c.3116G>A c.(3115-3117)aGa>aAa p.R1039K UBR2_ENST00000372883.3_Missense_Mutation_p.D547N|UBR2_ENST00000372901.1_Missense_Mutation_p.R1039K NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 1039 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) GAGATTGCCAGACTGCGCAGA 0.408000 15 42 0 0 1 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123448178 123448178 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:123448178G>C ENST00000529750.1 + 2 454 c.127G>C c.(127-129)Gag>Cag p.E43Q GRAMD1B_ENST00000456860.2_Missense_Mutation_p.E43Q|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.E43Q NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 43 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) CACCATGGTGGAGAAGGGCTC 0.677000 OREG0021454 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 6 0 0 1 0 0 TBX3 6926 broad.mit.edu 37 12 115118866 115118866 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:115118866C>G ENST00000349155.2 - 2 1438 c.475G>C c.(475-477)Gat>Cat p.D159H TBX3_ENST00000257566.3_Missense_Mutation_p.D159H NM_005996.3 NP_005987.3 O15119 TBX3_HUMAN T-box 3 159 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) CGACAGTCATCAGCAGCTATA 0.438000 32 92 0 0 1 0 0 ARRDC3 57561 broad.mit.edu 37 5 90678672 90678672 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:90678672C>G ENST00000265138.3 - 1 504 c.238G>C c.(238-240)Gag>Cag p.E80Q NM_020801.2 NP_065852.1 Q96B67 ARRD3_HUMAN arrestin domain containing 3 80 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 18 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) TTGAAATACTCTACTTCTTCA 0.378000 44 40 0 0 1 0 0 KIAA0195 9772 broad.mit.edu 37 17 73488566 73488566 + Silent SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:73488566G>C ENST00000314256.7 + 15 2002 c.1608G>C c.(1606-1608)ggG>ggC p.G536G KIAA0195_ENST00000375248.5_Silent_p.G546G|KIAA0195_ENST00000579208.1_Silent_p.G187G NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 536 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CCCAGCCTGGGATGGAGAGCG 0.632000 5 37 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32621582 32621582 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr8:32621582C>A ENST00000338921.4 + 13 2126 c.1609C>A c.(1609-1611)Caa>Aaa p.Q537K NRG1_ENST00000287842.3_Missense_Mutation_p.Q526K|NRG1_ENST00000405005.3_Missense_Mutation_p.Q529K|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.Q534K|NRG1_ENST00000519301.1_Missense_Mutation_p.Q479K|NRG1_ENST00000287845.5_Missense_Mutation_p.Q500K|NRG1_ENST00000539990.1_Missense_Mutation_p.Q372K Q02297 NRG1_HUMAN neuregulin 1 529 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) TGAAACGACCCAAGAGTACGA 0.542000 11 21 3.07112e-06 3.17743e-06 1 1 0 ETF1 2107 broad.mit.edu 37 5 137846256 137846256 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:137846256C>G ENST00000499810.2 - 9 1430 c.982G>C c.(982-984)Gag>Cag p.E328Q ETF1_ENST00000503014.1_Missense_Mutation_p.E347Q|ETF1_ENST00000360541.5_Missense_Mutation_p.E361Q NM_001256302.1|NM_001282185.1 NP_001243231.1|NP_001269114.1 P62495 ERF1_HUMAN eukaryotic translation termination factor 1 361 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination cytoplasm protein binding|ribosome binding|translation release factor activity, codon specific p.E361Q(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TCACATACCTCTTTGTCTGTG 0.398000 6 40 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90124959 90124959 + Missense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:90124959G>T ENST00000405460.2 + 77 16663 c.16567G>T c.(16567-16569)Gat>Tat p.D5523Y GPR98_ENST00000425867.2_Missense_Mutation_p.D1184Y NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5523 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GGTGGCCAGAGATTCTGGGAC 0.418000 75 53 5.10314e-47 5.64916e-47 1 1 0 OR52I2 143502 broad.mit.edu 37 11 4608387 4608387 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:4608387C>T ENST00000312614.4 + 1 367 c.345C>T c.(343-345)ttC>ttT p.F115F NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TGAGCATCTTCTGCTCAGGAG 0.512000 61 75 0 0 1 0 0 ZNF473 25888 broad.mit.edu 37 19 50548458 50548458 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:50548458C>T ENST00000595661.1 + 6 1253 c.758C>T c.(757-759)tCt>tTt p.S253F ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Missense_Mutation_p.S253F|ZNF473_ENST00000270617.3_Missense_Mutation_p.S253F|ZNF473_ENST00000445728.3_Missense_Mutation_p.S241F|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA Q8WTR7 ZN473_HUMAN zinc finger protein 473 253 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) GCTTCCCTTTCTGTGTATCCG 0.453000 43 223 0 0 1 0 0 MFSD7 84179 broad.mit.edu 37 4 675782 675782 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr4:675782G>A ENST00000322224.4 - 10 1958 c.1645C>T c.(1645-1647)Cac>Tac p.H549Y MYL5_ENST00000400159.2_Silent_p.*174*|MYL5_ENST00000511290.1_Silent_p.*133*|MFSD7_ENST00000404286.2_Missense_Mutation_p.H550Y|MYL5_ENST00000506838.1_Silent_p.*133*|MYL5_ENST00000505477.1_Silent_p.*133*|MFSD7_ENST00000503156.1_3'UTR|MFSD7_ENST00000515118.1_Missense_Mutation_p.H453Y|MFSD7_ENST00000347950.5_Missense_Mutation_p.H431Y Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 7 550 transmembrane transport integral to membrane cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 11 AAGGAGGAGTGAGACCCAGCC 0.657000 5 24 0 0 1 0 0 TSPEAR 54084 broad.mit.edu 37 21 45948467 45948467 + Splice_Site SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:45948467C>G ENST00000323084.4 - 6 856 c.e6-1 TSPEAR_ENST00000397916.1_Splice_Site NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 ATGTTGGTTTCTGAGGGGAAG 0.597000 15 15 0 0 1 0 0 VASH1 22846 broad.mit.edu 37 14 77242469 77242469 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:77242469G>A ENST00000167106.4 + 5 1398 c.765G>A c.(763-765)aaG>aaA p.K255K VASH1_ENST00000556038.1_3'UTR|RP11-488C13.6_ENST00000556368.1_RNA NM_014909.4 NP_055724.1 Q7L8A9 VASH1_HUMAN vasohibin 1 255 cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3) 10 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) ACGTGCTCAAGAAGGTGAAGC 0.677000 5 13 0 0 1 0 0 MRPL33 9553 broad.mit.edu 37 2 27997305 27997305 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:27997305G>C ENST00000296102.3 + 3 117 c.56G>C c.(55-57)aGa>aCa p.R19T MRPL33_ENST00000379666.3_Intron|MRPL33_ENST00000483992.1_Intron NM_004891.3 NP_004882.1 O75394 RM33_HUMAN mitochondrial ribosomal protein L33 19 translation mitochondrion|ribosome structural constituent of ribosome breast(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(172;0.155) ATTCTGGTGAGAATGGTGAGC 0.423000 51 99 0 0 1 0 0 SCAF1 58506 broad.mit.edu 37 19 50155777 50155777 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:50155777G>A ENST00000360565.3 + 7 2255 c.2131G>A c.(2131-2133)Gac>Aac p.D711N NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 711 Ser-rich. mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) GGGCCGGCTTGACAAGTCCGA 0.711000 15 10 0 0 1 0 0 TPD52 7163 broad.mit.edu 37 8 80992661 80992661 + Nonsense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr8:80992661C>A ENST00000520527.1 - 1 390 c.28G>T c.(28-30)Gag>Tag p.E10* TPD52_ENST00000518937.1_Intron|TPD52_ENST00000379097.3_Nonsense_Mutation_p.E10*|TPD52_ENST00000517427.1_Nonsense_Mutation_p.E10*|TPD52_ENST00000379096.5_Intron|TPD52_ENST00000519303.2_Intron|TPD52_ENST00000537855.1_Nonsense_Mutation_p.E10*|TPD52_ENST00000448733.2_Nonsense_Mutation_p.E10* P55327 TPD52_HUMAN tumor protein D52 10 anatomical structure morphogenesis|B cell differentiation|secretion endoplasmic reticulum|perinuclear region of cytoplasm calcium ion binding|protein heterodimerization activity|protein homodimerization activity endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 8 all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06) Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158) BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612) TGGTAGTCCTCATATAAGTCC 0.463000 19 38 1.55469e-16 1.67957e-16 1 1 0 COL6A6 131873 broad.mit.edu 37 3 130282479 130282479 + Missense_Mutation SNP A A G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:130282479A>G ENST00000358511.6 + 2 663 c.632A>G c.(631-633)gAg>gGg p.E211G COL6A6_ENST00000453409.2_Missense_Mutation_p.E211G NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 211 Nonhelical region. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 AAGTACAAGGAGGGAGCAGTT 0.403000 4 59 0 0 1 0 0 ACTRT2 140625 broad.mit.edu 37 1 2938571 2938571 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:2938571G>A ENST00000378404.2 + 1 526 c.321G>A c.(319-321)ctG>ctA p.L107L NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 107 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) ACCAGCCCCTGCTTGCAACGG 0.597000 31 49 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138655797 138655797 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:138655797C>A ENST00000251691.4 + 33 5980 c.5814C>A c.(5812-5814)ttC>ttA p.F1938L NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 1938 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) ACCCGTTCTTCATCCTGCCCT 0.572000 7 36 5.16669e-11 5.51523e-11 1 1 0 GHSR 2693 broad.mit.edu 37 3 172165775 172165775 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:172165775G>A ENST00000241256.2 - 1 471 c.429C>T c.(427-429)ttC>ttT p.F143F GHSR_ENST00000427970.1_Silent_p.F143F NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 143 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) AGCAGATGGCGAAGTAGCGCT 0.627000 10 29 0 0 1 0 0 SCUBE3 222663 broad.mit.edu 37 6 35213161 35213161 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:35213161C>A ENST00000274938.7 + 19 2558 c.2558C>A c.(2557-2559)tCt>tAt p.S853Y SCUBE3_ENST00000394681.1_Missense_Mutation_p.S869Y NM_152753.2 NP_689966.2 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 853 CUB. protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 37 TTCCTGCCATCTGAGGATGAG 0.567000 19 61 3.6726e-16 3.94383e-16 1 1 0 MOCS3 27304 broad.mit.edu 37 20 49576335 49576335 + Nonsense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:49576335C>A ENST00000244051.1 + 1 973 c.956C>A c.(955-957)tCa>tAa p.S319* NM_014484.3 NP_055299.1 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 319 enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 24 TGTGGCTCCTCAGCCACTGAT 0.587000 19 63 2.89027e-11 3.09138e-11 1 1 0 IKBKB 3551 broad.mit.edu 37 8 42176072 42176072 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr8:42176072C>G ENST00000520810.1 + 13 1429 c.1243C>G c.(1243-1245)Caa>Gaa p.Q415E IKBKB_ENST00000520835.1_Missense_Mutation_p.Q413E|IKBKB_ENST00000416505.2_Missense_Mutation_p.Q356E|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Missense_Mutation_p.Q192E NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 415 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) GTCTCCAGTTCAAGAGCCCAA 0.498000 47 92 0 0 1 0 0 CUBNP3 100421634 broad.mit.edu 37 10 45642902 45642902 + RNA SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:45642902C>G ENST00000427229.2 + 0 61 AGGTTAAACTCTTTTTCCAAC 0.413000 11 30 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142609893 142609893 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:142609893C>G ENST00000265310.1 - 13 1891 c.1543G>C c.(1543-1545)Gag>Cag p.E515Q NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 515 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) GTTGGGTCCTCTGTCTGGAAA 0.468000 35 71 0 0 1 0 0 GSX2 170825 broad.mit.edu 37 4 54968002 54968002 + Silent SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr4:54968002G>C ENST00000326902.2 + 2 1142 c.828G>C c.(826-828)ggG>ggC p.G276G GSX2_ENST00000548609.1_3'UTR|FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_3'UTR NM_133267.2 NP_573574.1 Q9BZM3 GSX2_HUMAN GS homeobox 2 276 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(2)|lung(2) 6 all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147) LUSC - Lung squamous cell carcinoma(32;0.00216) AGTGCGTCGGGAGCCAGGTGC 0.607000 10 25 0 0 1 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33393617 33393617 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:33393617C>G ENST00000418600.2 + 3 333 c.232C>G c.(232-234)Cgc>Ggc p.R78G SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R78G|SYNGAP1_ENST00000496374.1_3'UTR NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 78 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 CGAGTCCAGTCGCAACAAACT 0.692000 34 52 0 0 1 0 0 MEX3A 92312 broad.mit.edu 37 1 156046708 156046708 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:156046708G>C ENST00000532414.2 - 2 1219 c.1220C>G c.(1219-1221)tCt>tGt p.S407C NM_001093725.1 NP_001087194.1 A1L020 MEX3A_HUMAN mex-3 RNA binding family member A 407 Poly-Ser. cytoplasmic mRNA processing body|nucleus RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 9 Hepatocellular(266;0.158)|all_neural(408;0.195) ggaggaggcagaggagaagAG 0.726000 4 5 0 0 1 0 0 OR2W1 26692 broad.mit.edu 37 6 29012734 29012734 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:29012734G>C ENST00000377175.1 - 1 283 c.219C>G c.(217-219)ttC>ttG p.F73L NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 TGCTGGTTGTGAAACATAGAT 0.428000 4 63 0 0 1 0 0 KDM7A 80853 broad.mit.edu 37 7 139799789 139799789 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:139799789T>C ENST00000397560.2 - 13 1770 c.1673A>G c.(1672-1674)aAc>aGc p.N558S JHDM1D_ENST00000006967.5_Missense_Mutation_p.N558S NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 558 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) GAGATGTTTGTTGAATTTTCC 0.398000 44 83 0 0 1 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39178358 39178358 + Splice_Site SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:39178358C>G ENST00000297668.6 - 5 612 c.e5-1 CNTNAP3_ENST00000358144.2_Splice_Site|CNTNAP3_ENST00000377653.2_Splice_Site|CNTNAP3_ENST00000377656.2_Splice_Site|CNTNAP3_ENST00000323947.7_Splice_Site|CNTNAP3_ENST00000377659.1_Splice_Site NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) ACCTCAGATTCTAGGAAAGAA 0.313000 32 34 0 0 1 0 0 CCDC83 220047 broad.mit.edu 37 11 85630484 85630484 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:85630484C>G ENST00000280245.4 + 12 1778 c.1266C>G c.(1264-1266)gtC>gtG p.V422V CCDC83_ENST00000376067.1_Silent_p.V291V|RP11-90K17.2_ENST00000531414.1_RNA|CCDC83_ENST00000342404.3_Silent_p.V391V NM_173556.3 NP_775827.2 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 391 breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) AAATTCCAGTCAAACTCTATA 0.413000 16 39 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80771649 80771649 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:80771649G>C ENST00000458043.2 + 58 6862 c.6856G>C c.(6856-6858)Ggc>Cgc p.G2286R OTOGL_ENST00000547103.1_Missense_Mutation_p.G2274R|OTOGL_ENST00000546620.1_Missense_Mutation_p.G305R NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 ATCTTGTGACGGCAAATGCCC 0.343000 6 14 0 0 1 0 0 ZNF282 8427 broad.mit.edu 37 7 148921658 148921658 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:148921658C>G ENST00000262085.3 + 8 2040 c.1935C>G c.(1933-1935)ctC>ctG p.L645L ZNF282_ENST00000479907.1_3'UTR NM_003575.2 NP_003566.1 Q9UDV7 ZN282_HUMAN zinc finger protein 282 645 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) AGGAGTCGCTCAAGGACCACC 0.721000 6 7 0 0 1 0 0 IGHV1-18 28468 broad.mit.edu 37 14 106641745 106641745 + RNA SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:106641745G>A ENST00000390605.2 - 0 227 GGGGCCTGTCGCACCCAGCTG 0.552000 22 431 0 0 1 0 0 SH3BP5 9467 broad.mit.edu 37 3 15297659 15297659 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:15297659G>A ENST00000383791.3 - 9 1522 c.1302C>T c.(1300-1302)ctC>ctT p.L434L SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5_ENST00000426925.1_Silent_p.L277L|SH3BP5_ENST00000408919.3_Silent_p.L277L|SH3BP5_ENST00000253688.5_Silent_p.L277L NM_004844.4 NP_004835.2 O60239 3BP5_HUMAN SH3-domain binding protein 5 (BTK-associated) 434 intracellular signal transduction mitochondrion protein kinase inhibitor activity|SH3 domain binding NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 12 ACTGTAGGGAGAGCTGCTTCA 0.552000 170 150 0 0 1 0 0 PYGM 5837 broad.mit.edu 37 11 64514251 64514251 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:64514251G>A ENST00000164139.3 - 20 2807 c.2409C>T c.(2407-2409)atC>atT p.I803I PYGM_ENST00000377432.3_Silent_p.I715I NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 803 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) CTATGTTCCGGATCACCATCC 0.607000 41 58 0 0 1 0 0 ACPT 93650 broad.mit.edu 37 19 51295390 51295390 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:51295390G>A ENST00000270593.1 + 5 511 c.511G>A c.(511-513)Gag>Aag p.E171K ACPT_ENST00000270594.3_Intron NM_033068.2 NP_149059.1 Q9BZG2 PPAT_HUMAN acid phosphatase, testicular 171 integral to membrane acid phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3) 11 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) GGAGGCCACCGAGGCCGCCGA 0.706000 6 6 0 0 1 0 0 SLC22A2 6582 broad.mit.edu 37 6 160664743 160664743 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:160664743G>A ENST00000366953.3 - 7 1398 c.1140C>T c.(1138-1140)ttC>ttT p.F380F SLC22A2_ENST00000491092.1_5'UTR NM_003058.3 NP_003049.2 O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 380 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) CAGAGTAGAAGAAATCCAGGT 0.527000 19 52 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74394786 74394786 + RNA SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:74394786C>G ENST00000429810.2 - 0 179 CTCAGGAACTCAAACTAGACA 0.438000 5 9 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20874807 20874807 + Missense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:20874807G>T ENST00000381552.1 + 8 1213 c.845G>T c.(844-846)gGa>gTa p.G282V SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G233V|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G282V|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.G282V|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G164V Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 282 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) CTAATAGCAGGAATCATAAGT 0.438000 19 31 8.34094e-07 8.69656e-07 1 1 0 SNIP1 79753 broad.mit.edu 37 1 38003556 38003556 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:38003556G>A ENST00000296215.6 - 4 1056 c.984C>T c.(982-984)atC>atT p.I328I NM_024700.3 NP_078976.2 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 1 328 FHA. production of miRNAs involved in gene silencing by miRNA nucleus protein binding breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 25 Myeloproliferative disorder(586;0.0393) CAAGGTCAATGATGTAGGGCT 0.433000 30 52 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108236083 108236083 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:108236083G>A ENST00000278616.4 + 63 9404 c.9019G>A c.(9019-9021)Gaa>Aaa p.E3007K C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000452508.2_Missense_Mutation_p.E3007K|C11orf65_ENST00000525729.1_Intron NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 3007 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|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 complex binding|protein dimerization activity|protein N-terminus binding 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) CAAAGTAGCTGAACGTGTCTT 0.413000 """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) 17 65 0 0 1 0 0 FKBP15 23307 broad.mit.edu 37 9 115959352 115959352 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:115959352C>T ENST00000238256.3 - 9 841 c.724G>A c.(724-726)Gag>Aag p.E242K NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 242 PPIase FKBP-type. endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 ATTCCATCCTCCCAGCCCTTT 0.463000 27 89 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34059676 34059676 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:34059676C>T ENST00000538487.2 - 3 1163 c.720G>A c.(718-720)caG>caA p.Q240Q GRM4_ENST00000374181.4_Silent_p.Q240Q|GRM4_ENST00000455714.2_Silent_p.Q100Q|GRM4_ENST00000374177.3_Silent_p.Q171Q|GRM4_ENST00000535756.1_Silent_p.Q107Q|GRM4_ENST00000609222.1_Silent_p.Q107Q|GRM4_ENST00000544773.2_Silent_p.Q71Q NM_000841.2|NM_001256811.1 NP_000832.1|NP_001243740.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) CACGGGACTTCTGGATGAAGG 0.637000 4 24 0 0 1 0 0 JADE3 9767 broad.mit.edu 37 X 46913959 46913959 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chrX:46913959G>C ENST00000218343.4 + 9 1670 c.1372G>C c.(1372-1374)Gtg>Ctg p.V458L PHF16_ENST00000397189.1_Missense_Mutation_p.V458L NM_014735.3 NP_055550.1 Q92613 JADE3_HUMAN 458 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 AAATGGGCTGGTGCAGCCAAA 0.433000 11 6 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123657408 123657408 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chrX:123657408C>G ENST00000422452.2 - 17 2902 c.2839G>C c.(2839-2841)Gag>Cag p.E947Q TENM1_ENST00000371130.3_Missense_Mutation_p.E947Q NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GTTCTCTTCTCAGGCAGGAAA 0.468000 39 5 0 0 1 0 0 ZNF394 84124 broad.mit.edu 37 7 99097298 99097298 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:99097298C>T ENST00000337673.6 - 1 622 c.419G>A c.(418-420)cGg>cAg p.R140Q ZNF394_ENST00000394177.3_5'UTR|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.R140Q NM_032164.2 NP_115540.2 Q53GI3 ZN394_HUMAN zinc finger protein 394 140 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) CTGCAGAGCCCGCACCACGGC 0.632000 38 99 0 0 1 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70010650 70010650 + RNA SNP A A G rs144900726 by1000genomes TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:70010650A>G ENST00000531894.1 - 0 3748 NR_003610.1 AGGGCCGAAGAAGGGAATGTT 0.468000 3 77 0 0 1 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45567023 45567023 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr18:45567023C>G ENST00000588982.1 - 3 957 c.456G>C c.(454-456)gaG>gaC p.E152D ZBTB7C_ENST00000535628.2_Missense_Mutation_p.E152D|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.E152D|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.E152D|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.E152D A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 152 Asp-rich.|Glu-rich. intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 cctcttcgtcctcctcatcat 0.577000 5 17 0 0 1 0 0 SCAF4 57466 broad.mit.edu 37 21 33069064 33069064 + Splice_Site SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:33069064C>T ENST00000286835.7 - 8 1160 c.e8-1 SCAF4_ENST00000399804.1_Splice_Site|SCAF4_ENST00000434667.3_Splice_Site NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 CAAGCAACTTCTGGAATAATT 0.388000 23 50 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5798582 5798582 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:5798582C>T ENST00000328090.5 + 16 7238 c.6613C>T c.(6613-6615)Ctg>Ttg p.L2205L NM_017782.4 NP_060252 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 2205 TCAGAACCTTCTGAGGAAAGG 0.338000 17 36 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2110327 2110327 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:2110327C>G ENST00000382203.1 + 24 3575 c.3366C>G c.(3364-3366)ttC>ttG p.F1122L SMARCA2_ENST00000357248.2_Missense_Mutation_p.F1122L|SMARCA2_ENST00000382194.1_Missense_Mutation_p.F1122L|SMARCA2_ENST00000349721.2_Missense_Mutation_p.F1122L P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 1122 Helicase C-terminal. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) ATTTCATTTTCTTGCTGAGCA 0.463000 30 41 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 11 46 0 0 1 0 0 IGHG4 3503 broad.mit.edu 37 14 106091086 106091086 + RNA SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:106091086C>G ENST00000390543.2 - 0 710 TCTTGGTCATCTCCTCCTGGG 0.637000 39 374 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43619223 43619223 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:43619223G>A ENST00000355710.3 + 17 3138 c.2906G>A c.(2905-2907)cGg>cAg p.R969Q RET_ENST00000340058.5_Missense_Mutation_p.R969Q NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 969 Protein kinase. homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) ACCGGCCACCGGATGGAGAGG 0.597000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 3 84 0 0 1 0 0 RIMS4 140730 broad.mit.edu 37 20 43385652 43385652 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:43385652C>G ENST00000372851.3 - 5 544 c.478G>C c.(478-480)Gag>Cag p.E160Q RIMS4_ENST00000541604.2_Missense_Mutation_p.E161Q NM_001205317.1|NM_182970.3 NP_001192246.1|NP_892015.1 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 160 C2. exocytosis|neurotransmitter transport cell junction|synapse central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1) 29 Myeloproliferative disorder(115;0.0122) ATGCCATTCTCTAGCAGGTAG 0.562000 93 205 0 0 1 0 0 DMTF1 9988 broad.mit.edu 37 7 86794344 86794344 + Silent SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:86794344C>A ENST00000394703.5 + 5 650 c.87C>A c.(85-87)ctC>ctA p.L29L DMTF1_ENST00000331242.7_Silent_p.L29L|DMTF1_ENST00000411766.2_Silent_p.L29L|DMTF1_ENST00000432937.2_Intron|DMTF1_ENST00000394702.3_Silent_p.L29L|DMTF1_ENST00000413276.2_Silent_p.L29L|DMTF1_ENST00000414194.2_5'UTR NM_021145.3 NP_066968.3 Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 29 Interaction with CCND2 (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1) 16 Esophageal squamous(14;0.0058) AAGGGAATCTCATTCTTCACT 0.418000 15 49 5.35267e-07 5.59172e-07 1 1 0 XIRP1 165904 broad.mit.edu 37 3 39228623 39228623 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:39228623C>T ENST00000340369.3 - 2 2542 c.2314G>A c.(2314-2316)Gag>Aag p.E772K XIRP1_ENST00000396251.1_Missense_Mutation_p.E772K|XIRP1_ENST00000421646.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 772 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) AGGGTCCCCTCAGCTGCAGTC 0.632000 27 35 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79324197 79324197 + Nonsense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:79324197G>C ENST00000428286.1 - 8 3116 c.1916C>G c.(1915-1917)tCa>tGa p.S639* PRUNE2_ENST00000376718.3_Nonsense_Mutation_p.S998* Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 998 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 ACCATCTTTTGACTCAAAACC 0.453000 14 13 0 0 1 0 0 CTNNA1 1495 broad.mit.edu 37 5 138269620 138269620 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:138269620C>G ENST00000302763.7 + 18 2653 c.2563C>G c.(2563-2565)Cct>Gct p.P855A CTNNA1_ENST00000540387.1_Missense_Mutation_p.P485A|CTNNA1_ENST00000355078.5_Missense_Mutation_p.P752A|CTNNA1_ENST00000518825.1_3'UTR NM_001903.2 NP_001894.2 P35221 CTNA1_HUMAN catenin (cadherin-associated protein), alpha 1, 102kDa 855 adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 52 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CCTCAACCTTCCTGCTGTGTC 0.478000 3 39 0 0 1 0 0 C6orf106 64771 broad.mit.edu 37 6 34664291 34664291 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:34664291C>T ENST00000374023.3 - 1 333 c.90G>A c.(88-90)gaG>gaA p.E30E C6orf106_ENST00000374026.3_Silent_p.E30E|RP11-140K17.3_ENST00000606971.1_RNA NM_024294.2 NP_077270.1 Q9H6K1 CF106_HUMAN chromosome 6 open reading frame 106 30 endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 10 GCCTCTGGAACTCGGAGATGA 0.647000 5 21 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 4 96 0 0 1 0 0 KRT2 3849 broad.mit.edu 37 12 53045825 53045825 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:53045825C>G ENST00000309680.3 - 1 123 c.102G>C c.(100-102)cgG>cgC p.R34R NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 34 Head. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) AAGTTGATCTCCGGCTTCCAC 0.602000 10 20 0 0 1 0 0 ACSM3 6296 broad.mit.edu 37 16 20787320 20787320 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:20787320C>T ENST00000289416.5 + 3 854 c.379C>T c.(379-381)Ctg>Ttg p.L127L ACSM3_ENST00000450120.2_Silent_p.L82L|ACSM3_ENST00000440284.2_Silent_p.L127L NM_005622.3 NP_005613.2 Q53FZ2 ACSM3_HUMAN acyl-CoA synthetase medium-chain family member 3 127 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 21 AATTCTGATTCTGCCCAGGGT 0.463000 19 79 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187443 12187443 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:12187443C>G ENST00000439326.3 + 4 1683 c.1508C>G c.(1507-1509)cCt>cGt p.P503R ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P503R(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GAGAGAAACCCTATGAGTGTA 0.413000 3 65 0 0 1 0 0 PIH1D1 55011 broad.mit.edu 37 19 49954846 49954846 + Translation_Start_Site SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:49954846G>C ENST00000262265.5 - 0 221 PIH1D1_ENST00000596049.1_Intron NM_017916.2 NP_060386.1 Q9NWS0 PIHD1_HUMAN PIH1 domain containing 1 box C/D snoRNP assembly pre-snoRNP complex NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1) 11 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244) CTGGGAAAGAGATCTAGGCGT 0.607000 4 25 0 0 1 0 0 KBTBD3 143879 broad.mit.edu 37 11 105924026 105924026 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:105924026C>G ENST00000526793.1 - 3 1549 c.1390G>C c.(1390-1392)Gag>Cag p.E464Q KBTBD3_ENST00000534815.1_Missense_Mutation_p.E385Q|KBTBD3_ENST00000531837.1_Missense_Mutation_p.E464Q NM_152433.3 NP_689646.2 Q8NAB2 KBTB3_HUMAN kelch repeat and BTB (POZ) domain containing 3 460 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 25 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) TCTGTAATCTCTACCTCTGAT 0.373000 25 28 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546771 11546771 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:11546771G>C ENST00000389362.4 - 3 276 c.241C>G c.(241-243)Cca>Gca p.P81A PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 p.P81A(1)|p.P60A(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TGTGGGGGTGGTCCTTGTGGC 0.612000 6 355 0 0 1 0 0 ARHGEF1 9138 broad.mit.edu 37 19 42407459 42407459 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:42407459G>A ENST00000599846.1 + 20 2034 c.1909G>A c.(1909-1911)Gag>Aag p.E637K ARHGEF1_ENST00000337665.4_Missense_Mutation_p.E596K|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.E581K|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.E548K|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.E563K Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 581 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) GCCTGCAGAAGAGCCCACAGA 0.607000 5 21 0 0 1 0 0 SPESP1 246777 broad.mit.edu 37 15 69238236 69238236 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:69238236C>G ENST00000310673.3 + 2 517 c.363C>G c.(361-363)ttC>ttG p.F121L NOX5_ENST00000448182.3_Intron|SPESP1_ENST00000560188.1_3'UTR|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron NM_145658.3 NP_663633.1 Q6UW49 SPESP_HUMAN sperm equatorial segment protein 1 121 multicellular organismal development acrosomal vesicle breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 19 GTACCCCATTCTGGTCGATCA 0.428000 16 18 0 0 1 0 0 MGRN1 23295 broad.mit.edu 37 16 4721438 4721438 + Missense_Mutation SNP A A T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:4721438A>T ENST00000399577.5 + 9 866 c.773A>T c.(772-774)aAc>aTc p.N258I MGRN1_ENST00000262370.7_Missense_Mutation_p.N258I|MGRN1_ENST00000415496.1_Missense_Mutation_p.N259I|MGRN1_ENST00000586183.1_Missense_Mutation_p.N258I|MGRN1_ENST00000588015.1_3'UTR|MGRN1_ENST00000588994.1_Missense_Mutation_p.N258I NM_001142290.2 NP_001135762.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase 258 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 GGCATTGAGAACAAGAACAAC 0.587000 17 35 0 0 1 0 0 AFF1 4299 broad.mit.edu 37 4 87967934 87967934 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr4:87967934C>T ENST00000307808.6 + 3 646 c.226C>T c.(226-228)Cac>Tac p.H76Y AFF1_ENST00000395146.4_Missense_Mutation_p.H83Y|AFF1_ENST00000544085.1_Intron NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 76 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) TACTAAGTCTCACACTCATCG 0.438000 70 275 0 0 1 0 0 ZNF77 58492 broad.mit.edu 37 19 2933592 2933592 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:2933592C>G ENST00000314531.4 - 4 1625 c.1533G>C c.(1531-1533)gtG>gtC p.V511V NM_021217.2 NP_067040.1 Q15935 ZNF77_HUMAN zinc finger protein 77 511 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1) 17 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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) TGTGCGTTCTCACGTGCACAC 0.493000 37 74 0 0 1 0 0 ZNF282 8427 broad.mit.edu 37 7 148921496 148921496 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:148921496C>G ENST00000262085.3 + 8 1878 c.1773C>G c.(1771-1773)aaC>aaG p.N591K ZNF282_ENST00000479907.1_3'UTR NM_003575.2 NP_003566.1 Q9UDV7 ZN282_HUMAN zinc finger protein 282 591 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) ACCTGCAGAACCACCAGCGGC 0.632000 12 32 0 0 1 0 0 MORF4L1 10933 broad.mit.edu 37 15 79184578 79184578 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:79184578G>A ENST00000331268.5 + 9 784 c.580G>A c.(580-582)Gaa>Aaa p.E194K MORF4L1_ENST00000558502.1_Missense_Mutation_p.E67K|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000379535.4_Missense_Mutation_p.E180K|MORF4L1_ENST00000558746.1_Missense_Mutation_p.E128K|MORF4L1_ENST00000426013.2_Missense_Mutation_p.E155K|MORF4L1_ENST00000559345.1_Missense_Mutation_p.E67K NM_206839.2 NP_996670.1 Q9UBU8 MO4L1_HUMAN mortality factor 4 like 1 194 Interaction with RB1-1.|Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A. double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1) 10 GAACAGAGTTGAAGTTAAAGT 0.388000 18 28 0 0 1 0 0 B4GALT6 9331 broad.mit.edu 37 18 29218639 29218639 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr18:29218639G>A ENST00000306851.5 - 5 852 c.556C>T c.(556-558)Cgg>Tgg p.R186W B4GALT6_ENST00000383131.3_Intron|B4GALT6_ENST00000237019.7_Missense_Mutation_p.R147W NM_004775.3 NP_004766.2 Q9UBX8 B4GT6_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 186 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1) 20 OV - Ovarian serous cystadenocarcinoma(10;0.00791) AATTCCAGCCGCTGCTTCTGG 0.358000 3 86 0 0 1 0 0 ZNF737 100129842 broad.mit.edu 37 19 20727954 20727954 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:20727954T>C ENST00000427401.4 - 4 1149 c.1055A>G c.(1054-1056)tAc>tGc p.Y352C NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 352 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 GGATGAGAAGTACTTAAAGGC 0.418000 20 36 0 0 1 0 0 DYNC1LI1 51143 broad.mit.edu 37 3 32582547 32582547 + Silent SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:32582547T>C ENST00000273130.4 - 5 823 c.720A>G c.(718-720)gtA>gtG p.V240V DYNC1LI1_ENST00000432458.2_Silent_p.V124V NM_016141.3 NP_057225.2 Q9Y6G9 DC1L1_HUMAN dynein, cytoplasmic 1, light intermediate chain 1 240 cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole ATP binding|motor activity kidney(2)|large_intestine(1)|lung(3)|ovary(1) 7 AAACTACTAGTACTGGAATGC 0.413000 26 440 0 0 1 0 0 ZNF232 7775 broad.mit.edu 37 17 5009634 5009634 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:5009634C>T ENST00000250076.3 - 5 1474 c.820G>A c.(820-822)Gag>Aag p.E274K ZNF232_ENST00000575898.1_Missense_Mutation_p.E265K|ZNF232_ENST00000416429.2_3'UTR NM_014519.2 NP_055334.2 Q9UNY5 ZN232_HUMAN zinc finger protein 232 247 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2) 11 CTCAGTCTCTCCGCTTTGGGA 0.478000 38 28 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124413237 124413237 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:124413237G>A ENST00000291478.5 + 20 2536 c.2373G>A c.(2371-2373)gtG>gtA p.V791V KALRN_ENST00000428018.2_Silent_p.V759V|KALRN_ENST00000360013.3_Silent_p.V2488V NM_007064.3 NP_008995.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GGGACACAGTGATACTGCAGT 0.493000 48 104 0 0 1 0 0 ACIN1 22985 broad.mit.edu 37 14 23533582 23533582 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:23533582G>A ENST00000262710.1 - 11 2925 c.2598C>T c.(2596-2598)atC>atT p.I866I ACIN1_ENST00000357481.2_Silent_p.I108I|ACIN1_ENST00000457657.1_Silent_p.I826I|ACIN1_ENST00000605057.1_Silent_p.I808I|ACIN1_ENST00000555053.1_Silent_p.I865I|ACIN1_ENST00000338631.6_Silent_p.I139I|ACIN1_ENST00000397341.3_Silent_p.I108I|ACIN1_ENST00000557515.1_Silent_p.I107I NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 866 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) ATTCAGTGGTGATACTGATGG 0.587000 60 113 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86203124 86203124 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:86203124G>A ENST00000370571.2 - 58 5103 c.4737C>T c.(4735-4737)ttC>ttT p.F1579F COL24A1_ENST00000436319.1_Silent_p.F1558F NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 1579 Fibrillar collagen NC1. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) CACCAGCACTGAAATTGCAGA 0.353000 10 43 0 0 1 0 0 MPRIP 23164 broad.mit.edu 37 17 17083324 17083324 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:17083324G>A ENST00000395811.5 + 22 3056 c.2967G>A c.(2965-2967)atG>atA p.M989I MPRIP_ENST00000444976.1_Missense_Mutation_p.M951I|MPRIP_ENST00000395804.3_Missense_Mutation_p.M989I|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000341712.4_Missense_Mutation_p.M989I NM_015134.3|NM_201274.3 NP_055949.2|NP_958431.2 Q6WCQ1 MPRIP_HUMAN myosin phosphatase Rho interacting protein 989 cytoplasm|cytoskeleton actin binding biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 CAGATATAATGAAATCTAAAA 0.443000 18 13 0 0 1 0 0 JAGN1 84522 broad.mit.edu 37 3 9935060 9935060 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:9935060G>A ENST00000307768.4 + 2 720 c.551G>A c.(550-552)tGa>tAa p.*184* NM_032492.3 NP_115881.3 Q8N5M9 JAGN1_HUMAN jagunal homolog 1 (Drosophila) 0 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1) 10 Medulloblastoma(99;0.227) AAGCATAAATGAAGCCTCTTT 0.488000 4 10 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62758676 62758676 + Splice_Site SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr4:62758676G>A ENST00000512091.2 + 9 2326 c.1579G>A c.(1579-1581)Ggt>Agt p.G527S LPHN3_ENST00000508693.1_Splice_Site_p.G595S|LPHN3_ENST00000506720.1_Splice_Site_p.G595S|LPHN3_ENST00000545650.1_Splice_Site_p.G527S|LPHN3_ENST00000514996.1_Splice_Site_p.G527S|LPHN3_ENST00000507164.1_Splice_Site_p.G595S|LPHN3_ENST00000506700.1_Splice_Site_p.G527S|LPHN3_ENST00000514591.1_Splice_Site_p.G527S|LPHN3_ENST00000506746.1_Splice_Site_p.G595S|LPHN3_ENST00000514157.1_Splice_Site_p.G527S|LPHN3_ENST00000507625.1_Splice_Site_p.G595S|LPHN3_ENST00000504896.1_Splice_Site_p.G527S|LPHN3_ENST00000509896.1_Splice_Site_p.G595S|LPHN3_ENST00000508946.1_Splice_Site_p.G527S|LPHN3_ENST00000511324.1_Splice_Site_p.G595S Q9HAR2 LPHN3_HUMAN latrophilin 3 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 AGGAACTATAGGTAAGTCTGT 0.453000 2 5 0 0 1 0 0 SCAMP5 192683 broad.mit.edu 37 15 75308956 75308956 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:75308956G>A ENST00000361900.6 + 5 366 c.159G>A c.(157-159)gtG>gtA p.V53V SCAMP5_ENST00000425597.3_Silent_p.V53V|SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000545456.1_Intron|SCAMP5_ENST00000562212.1_Silent_p.V53V NM_001178111.1 NP_001171582.1 Q8TAC9 SCAM5_HUMAN secretory carrier membrane protein 5 53 exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane protein binding large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 5 CGCTGGCCGTGAACCTGGTGG 0.617000 22 64 0 0 1 0 0 IGF1R 3480 broad.mit.edu 37 15 99459287 99459287 + Silent SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:99459287G>C ENST00000268035.6 + 9 2534 c.1923G>C c.(1921-1923)ctG>ctC p.L641L IGF1R_ENST00000558762.1_Silent_p.L641L NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 641 Fibronectin type-III 2. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) ACGGCAACCTGAGTTACTACA 0.557000 45 51 0 0 1 0 0 MPP7 143098 broad.mit.edu 37 10 28348590 28348590 + Silent SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:28348590T>C ENST00000337532.5 - 15 1563 c.1287A>G c.(1285-1287)gtA>gtG p.V429V MPP7_ENST00000375719.3_Silent_p.V429V|MPP7_ENST00000375732.1_Silent_p.V429V|MPP7_ENST00000540098.1_Silent_p.V429V|MPP7_ENST00000445954.2_Silent_p.V304V NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 429 Guanylate kinase-like. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 TGTTATTTTGTACATCTGTCT 0.358000 3 76 0 0 1 0 0 STAT1 6772 broad.mit.edu 37 2 191841752 191841752 + Splice_Site SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:191841752C>G ENST00000361099.3 - 22 2261 c.e22-1 STAT1_ENST00000540176.1_Splice_Site|STAT1_ENST00000409465.1_Splice_Site|STAT1_ENST00000392323.2_Splice_Site|STAT1_ENST00000392322.3_Splice_Site NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) AAGTCAGGTTCTAAAAAGGAG 0.403000 23 45 0 0 1 0 0 POFUT1 23509 broad.mit.edu 37 20 30816133 30816133 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:30816133G>A ENST00000375749.3 + 5 672 c.610G>A c.(610-612)Gaa>Aaa p.E204K POFUT1_ENST00000539210.1_5'UTR|POFUT1_ENST00000486717.1_3'UTR NM_015352.1 NP_056167.1 Q9H488 OFUT1_HUMAN protein O-fucosyltransferase 1 204 fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent endoplasmic reticulum|membrane peptide-O-fucosyltransferase activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1) 6 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CGTCCTAGAGGAACACAGGCC 0.557000 20 40 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54758713 54758713 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:54758713G>C ENST00000450632.1 - 6 1190 c.1113C>G c.(1111-1113)ttC>ttG p.F371L LILRB5_ENST00000316219.5_Missense_Mutation_p.F380L|LILRB5_ENST00000449561.2_Missense_Mutation_p.F380L|LILRB5_ENST00000345866.6_Missense_Mutation_p.F280L O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 380 Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GACTCATGGAGAATTCAGCCT 0.547000 27 87 0 0 1 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21355522 21355522 + Silent SNP A A G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:21355522A>G ENST00000256958.2 + 10 1329 c.1233A>G c.(1231-1233)tcA>tcG p.S411S NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 411 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) CCAAATTCTCATGTTTTACTG 0.343000 16 23 0 0 1 0 0 PDHX 8050 broad.mit.edu 37 11 35006268 35006268 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:35006268C>G ENST00000448838.3 + 9 1372 c.1130C>G c.(1129-1131)tCt>tGt p.S377C PDHX_ENST00000227868.4_Missense_Mutation_p.S392C|PDHX_ENST00000430469.2_Missense_Mutation_p.S165C|PDHX_ENST00000477173.3_3'UTR NM_001135024.1|NM_003477.2 NP_001128496.1|NP_003468.2 O00330 ODPX_HUMAN pyruvate dehydrogenase complex, component X 392 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1) 16 all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242) all_hematologic(20;0.124) STAD - Stomach adenocarcinoma(6;0.00113) ATTGCTGACTCTGTAAAGGTA 0.358000 51 111 0 0 1 0 0 TXNDC2 84203 broad.mit.edu 37 18 9887461 9887461 + Missense_Mutation SNP A A C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr18:9887461A>C ENST00000357775.5 + 2 1019 c.784A>C c.(784-786)Atc>Ctc p.I262L TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000306084.6_Missense_Mutation_p.I329L NM_032243.5 NP_115619.4 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GGAGGGTGACATCCCCAAGTC 0.592000 4 143 0 0 1 0 0 ZNF441 126068 broad.mit.edu 37 19 11891595 11891595 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:11891595C>T ENST00000357901.4 + 4 1058 c.956C>T c.(955-957)tCt>tTt p.S319F ZNF441_ENST00000454339.2_Missense_Mutation_p.S252F NM_152355.2 NP_689568.2 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 319 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GGCTTTCTTTCTCCCAGTTCA 0.403000 29 48 0 0 1 0 0 GALC 2581 broad.mit.edu 37 14 88459326 88459326 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:88459326G>A ENST00000261304.2 - 1 289 c.183C>T c.(181-183)gtC>gtT p.V61V GALC_ENST00000393569.2_Intron|GALC_ENST00000393568.4_Silent_p.V61V NM_000153.3|NM_001201401.1 NP_000144.2|NP_001188330.1 P54803 GALC_HUMAN galactosylceramidase 61 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CGCCGCCGCTGACCGCGCCGA 0.776000 5 3 0 0 1 0 0 TLX3 30012 broad.mit.edu 37 5 170736430 170736430 + Missense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:170736430G>T ENST00000296921.5 + 1 143 c.61G>T c.(61-63)Gac>Tac p.D21Y NM_021025.2 NP_066305.2 O43711 TLX3_HUMAN T-cell leukemia homeobox 3 21 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CTTCGGCATCGACCAGATCCT 0.781000 T BCL11B T-ALL 6 9 5.18039e-06 5.34943e-06 1 1 0 KEAP1 9817 broad.mit.edu 37 19 10602848 10602848 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:10602848C>T ENST00000171111.5 - 3 1277 c.730G>A c.(730-732)Gag>Aag p.E244K KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.E244K NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 244 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) TGGAAGACCTCGGACTCGCAG 0.627000 16 48 0 0 1 0 0 ITSN1 6453 broad.mit.edu 37 21 35166747 35166747 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:35166747G>C ENST00000381318.3 + 17 2215 c.1927G>C c.(1927-1929)Gaa>Caa p.E643Q ITSN1_ENST00000437442.2_Missense_Mutation_p.E643Q|ITSN1_ENST00000399355.2_Missense_Mutation_p.E643Q|ITSN1_ENST00000381285.4_Missense_Mutation_p.E643Q|ITSN1_ENST00000399326.3_Missense_Mutation_p.E643Q|ITSN1_ENST00000399352.1_Missense_Mutation_p.E643Q|ITSN1_ENST00000399353.1_Missense_Mutation_p.E606Q|ITSN1_ENST00000399338.4_Missense_Mutation_p.E643Q|ITSN1_ENST00000399349.1_Missense_Mutation_p.E643Q|ITSN1_ENST00000399367.3_Missense_Mutation_p.E643Q|ITSN1_ENST00000379960.5_Missense_Mutation_p.E643Q|ITSN1_ENST00000381291.4_Missense_Mutation_p.E643Q|AP000304.12_ENST00000429238.1_Intron NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 643 KLERQ. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 CATAGAATTAGAAAAACAAAA 0.383000 11 23 0 0 1 0 0 NEK4 6787 broad.mit.edu 37 3 52775460 52775460 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:52775460G>A ENST00000233027.5 - 13 2262 c.2060C>T c.(2059-2061)tCa>tTa p.S687L NEK4_ENST00000383721.4_Missense_Mutation_p.S641L|NEK4_ENST00000535191.1_Missense_Mutation_p.S598L NM_001193533.1|NM_003157.4 NP_001180462.1|NP_003148.2 P51957 NEK4_HUMAN NIMA-related kinase 4 687 cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10) 26 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) CTTATCAGTTGAACTTGTAGA 0.328000 52 94 0 0 1 0 0 CCL1 6346 broad.mit.edu 37 17 32688819 32688819 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:32688819G>A ENST00000225842.3 - 2 242 c.173C>T c.(172-174)tCc>tTc p.S58F NM_002981.1 NP_002972.1 P22362 CCL1_HUMAN chemokine (C-C motif) ligand 1 58 cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction extracellular space chemokine activity Ovarian(249;0.0443)|Breast(31;0.133) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155) GCCCTCATTGGAGCAGATGGA 0.483000 OREG0024322 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 82 182 0 0 1 0 0 POLE2 5427 broad.mit.edu 37 14 50118022 50118022 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:50118022G>A ENST00000539565.2 - 15 1425 c.1207C>T c.(1207-1209)Cgt>Tgt p.R403C POLE2_ENST00000554396.1_Missense_Mutation_p.R429C|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000216367.5_Missense_Mutation_p.R429C NM_001197330.1 NP_001184259.1 P56282 DPOE2_HUMAN polymerase (DNA directed), epsilon 2, accessory subunit 429 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 10 all_epithelial(31;0.0021)|Breast(41;0.0124) CTAGGAAAACGGACGCAGTTT 0.328000 3 37 0 0 1 0 0 NFKBIL1 4795 broad.mit.edu 37 6 31516038 31516038 + Silent SNP C C T rs144376753 TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:31516038C>T ENST00000376148.4 + 2 270 c.156C>T c.(154-156)ctC>ctT p.L52L NFKBIL1_ENST00000376145.4_Silent_p.L52L NM_005007.3 NP_004998.3 Q9UBC1 IKBL1_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 52 cytoplasmic sequestering of transcription factor protein binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 CCCAGGCCCTCCTCCAGCGAC 0.677000 19 17 0 0 1 0 0 MRPS30 10884 broad.mit.edu 37 5 44809390 44809390 + Missense_Mutation SNP T T A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:44809390T>A ENST00000507110.1 + 1 364 c.326T>A c.(325-327)tTc>tAc p.F109Y NM_016640.3 NP_057724.2 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 109 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1) 20 Lung NSC(6;8.08e-07) TACCAGTACTTCACCAAGACC 0.622000 21 25 0 0 1 0 0 XPO5 57510 broad.mit.edu 37 6 43492227 43492227 + Silent SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:43492227G>C ENST00000265351.7 - 31 3669 c.3459C>G c.(3457-3459)ctC>ctG p.L1153L POLR1C_ENST00000304004.3_Intron NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 1153 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) AACCAGCAATGAGGCGTTTGA 0.473000 11 42 0 0 1 0 0 OR52I2 143502 broad.mit.edu 37 11 4608419 4608419 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:4608419C>G ENST00000312614.4 + 1 399 c.377C>G c.(376-378)gCt>gGt p.A126G NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) AGCTTTAGTGCTTGTTTCACT 0.517000 33 28 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37115115 37115115 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:37115115C>A ENST00000274258.7 - 50 9466 c.5879G>T c.(5878-5880)gGa>gTa p.G1960V C5orf42_ENST00000425232.2_Missense_Mutation_p.G3062V|C5orf42_ENST00000508244.1_Missense_Mutation_p.G3062V E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 3062 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TGCTTTGGCTCCACCAGCTTT 0.363000 19 14 1.55795e-14 1.66967e-14 1 1 0 TUBG2 27175 broad.mit.edu 37 17 40818450 40818450 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:40818450C>T ENST00000251412.7 + 10 1305 c.1106C>T c.(1105-1107)tCg>tTg p.S369L NM_016437.2 NP_057521.1 Q9NRH3 TBG2_HUMAN tubulin, gamma 2 369 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.141) TACCTGCCCTCGGCCCACCGG 0.607000 39 66 0 0 1 0 0 HNRNPDL 9987 broad.mit.edu 37 4 83350483 83350483 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr4:83350483C>G ENST00000295470.5 - 1 536 c.361G>C c.(361-363)Gag>Cag p.E121Q HNRNPDL_ENST00000349655.4_Missense_Mutation_p.E2Q|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.E2Q|HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.E121Q NM_001207000.1|NM_031372.3 NP_001193929.1|NP_112740.1 heterogeneous nuclear ribonucleoprotein D-like TTCATATCCTCCATAGTGACG 0.587000 67 63 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144885702 144885702 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr8:144885702G>A ENST00000356994.2 - 24 3460 c.3454C>T c.(3454-3456)Cgt>Tgt p.R1152C SCRIB_ENST00000377533.3_Missense_Mutation_p.R1071C|SCRIB_ENST00000320476.3_Missense_Mutation_p.R1152C NM_182706.4 NP_874365 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 1152 Interaction with ARHGEF7.|PDZ 4. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding p.R1152fs*38(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) AAACCCACACGCAGCCGACCG 0.721000 21 34 0 0 1 0 0 RIT2 6014 broad.mit.edu 37 18 40323592 40323592 + Missense_Mutation SNP A A T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr18:40323592A>T ENST00000326695.5 - 5 691 c.520T>A c.(520-522)Ttt>Att p.F174I RIT2_ENST00000590910.1_3'UTR|RIT2_ENST00000589109.1_3'UTR NM_002930.2 NP_002921.1 Q99578 RIT2_HUMAN Ras-like without CAAX 2 174 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AAGCCATGAAAAGCATCATCA 0.428000 20 33 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132213965 132213965 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:132213965C>G ENST00000260818.6 + 35 4223 c.3975C>G c.(3973-3975)ttC>ttG p.F1325L NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1325 J. heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 AAGCTTACTTCAGACTTGCAC 0.378000 16 36 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87150136 87150136 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:87150136C>A ENST00000265724.3 - 23 3159 c.2742G>T c.(2740-2742)caG>caT p.Q914H ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.Q850H NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 914 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GTTCAAACTTCTGCTCCTGAG 0.408000 36 64 6.4771e-29 7.11159e-29 1 1 0 MUC17 140453 broad.mit.edu 37 7 100678824 100678824 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:100678824C>T ENST00000306151.4 + 3 4191 c.4127C>T c.(4126-4128)tCa>tTa p.S1376L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1376 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GAAGCCTGTTCATCTCCTACA 0.493000 128 301 0 0 1 0 0 HNRNPF 3185 broad.mit.edu 37 10 43883167 43883167 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:43883167C>G ENST00000443950.2 - 3 652 c.166G>C c.(166-168)Gag>Cag p.E56Q HNRNPF_ENST00000356053.3_Missense_Mutation_p.E56Q|HNRNPF_ENST00000337970.3_Missense_Mutation_p.E56Q|HNRNPF_ENST00000498176.1_5'UTR|HNRNPF_ENST00000544000.1_Missense_Mutation_p.E56Q|HNRNPF_ENST00000357065.4_Missense_Mutation_p.E56Q NM_001098208.1 NP_001091678.1 P52597 HNRPF_HUMAN heterogeneous nuclear ribonucleoprotein F 56 RRM 1. regulation of RNA splicing catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1) 19 ACAAAAGCCTCACCACTCTGC 0.493000 25 38 0 0 1 0 0 OR2B6 26212 broad.mit.edu 37 6 27925668 27925668 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:27925668C>T ENST00000244623.1 + 1 650 c.650C>T c.(649-651)tCa>tTa p.S217L NM_012367.1 NP_036499.1 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, member 6 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATCCTTATATCATATGCTTTT 0.423000 40 169 0 0 1 0 0 ZNF502 91392 broad.mit.edu 37 3 44763165 44763165 + Nonsense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:44763165C>T ENST00000296091.4 + 4 1112 c.856C>T c.(856-858)Cag>Tag p.Q286* ZNF502_ENST00000449836.1_Nonsense_Mutation_p.Q286*|ZNF502_ENST00000436624.2_Nonsense_Mutation_p.Q286* NM_001134440.1|NM_001282880.1|NM_033210.4 NP_001127912.1|NP_001269809.1|NP_149987.2 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 286 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) TATTCATCATCAGAGAATTCA 0.403000 169 261 0 0 1 0 0 POLR3C 10623 broad.mit.edu 37 1 145609263 145609263 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:145609263C>G ENST00000334163.3 - 2 234 c.74G>C c.(73-75)gGa>gCa p.G25A POLR3C_ENST00000369294.1_Missense_Mutation_p.G25A|POLR3C_ENST00000471254.1_5'UTR NM_006468.6 NP_006459.3 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide C (62kD) 25 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) CAGATGGACTCCAATTTTTTC 0.428000 16 72 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108236128 108236128 + Nonsense_Mutation SNP G G T rs56253573 TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:108236128G>T ENST00000278616.4 + 63 9449 c.9064G>T c.(9064-9066)Gaa>Taa p.E3022* C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000452508.2_Nonsense_Mutation_p.E3022*|C11orf65_ENST00000525729.1_Intron NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 3022 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|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 complex binding|protein dimerization activity|protein N-terminus binding 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) AGGAGTGGAAGAAGGCACTGT 0.433000 """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) 17 59 3.01185e-09 3.18345e-09 1 1 0 RRM2 6241 broad.mit.edu 37 2 10263127 10263127 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:10263127G>A ENST00000360566.2 + 2 588 c.297G>A c.(295-297)ggG>ggA p.G99G RRM2_ENST00000304567.5_Silent_p.G39G NM_001165931.1 NP_001159403.1 P31350 RIR2_HUMAN ribonucleotide reductase M2 39 deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol ribonucleoside-diphosphate reductase activity|transition metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221) CCCTGAGCGGGACCCGCGTCC 0.751000 3 5 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41385232 41385232 + Silent SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:41385232G>C ENST00000373198.4 - 6 964 c.729C>G c.(727-729)gtC>gtG p.V243V PTPRT_ENST00000373201.1_Silent_p.V243V|PTPRT_ENST00000373187.1_Silent_p.V243V|PTPRT_ENST00000356100.2_Silent_p.V243V|PTPRT_ENST00000373190.1_Silent_p.V243V|PTPRT_ENST00000373184.1_Silent_p.V243V|PTPRT_ENST00000373193.3_Silent_p.V243V NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T Ig-like C2-type. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GCCTGTGGTTGACCACACGGG 0.582000 7 21 0 0 1 0 0 FANCI 55215 broad.mit.edu 37 15 89834929 89834929 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:89834929C>G ENST00000310775.7 + 20 2062 c.1976C>G c.(1975-1977)tCt>tGt p.S659C FANCI_ENST00000300027.8_Missense_Mutation_p.S659C NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 659 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) GATAAGATCTCTCTACAAGAA 0.378000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 27 55 0 0 1 0 0 KDM1A 23028 broad.mit.edu 37 1 23376901 23376901 + Missense_Mutation SNP A A G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:23376901A>G ENST00000400181.4 + 4 703 c.599A>G c.(598-600)cAg>cGg p.Q200R KDM1A_ENST00000356634.3_Missense_Mutation_p.Q180R|KDM1A_ENST00000542151.1_Missense_Mutation_p.Q200R|RP1-184J9.2_ENST00000427154.1_RNA NM_001009999.2 NP_001009999.1 O60341 KDM1A_HUMAN lysine (K)-specific demethylase 1A 180 SWIRM. blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 GCAGCTTTCCAGAGCCGACTT 0.448000 19 59 0 0 1 0 0 KCNF1 3754 broad.mit.edu 37 2 11053189 11053189 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:11053189G>A ENST00000295082.1 + 1 1127 c.637G>A c.(637-639)Gag>Aag p.E213K NM_002236.4 NP_002227.2 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, member 1 213 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) GCTGGACGCCGAGGGCAACCG 0.667000 18 22 0 0 1 0 0 SHROOM1 134549 broad.mit.edu 37 5 132160501 132160501 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:132160501C>G ENST00000378679.3 - 6 1851 c.1047G>C c.(1045-1047)caG>caC p.Q349H SHROOM1_ENST00000319854.3_Missense_Mutation_p.Q349H|SHROOM1_ENST00000378676.1_Intron NM_001172700.1 NP_001166171.1 Q2M3G4 SHRM1_HUMAN shroom family member 1 349 actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAGCCTCTTTCTGAGGCAAGA 0.542000 4 22 0 0 1 0 0 PIBF1 10464 broad.mit.edu 37 13 73409499 73409499 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr13:73409499G>C ENST00000326291.6 + 9 1554 c.1216G>C c.(1216-1218)Gaa>Caa p.E406Q NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 406 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) GTATGAACGAGAAAACAGGTA 0.269000 18 48 0 0 1 0 0 AK7 122481 broad.mit.edu 37 14 96924468 96924468 + Missense_Mutation SNP G G C rs149622950 by1000genomes TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:96924468G>C ENST00000267584.4 + 12 1320 c.1276G>C c.(1276-1278)Gaa>Caa p.E426Q NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 426 Adenylate kinase.|Poly-Glu. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity p.E426K(1) breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) agaagaagtcgaagaggaaga 0.507000 18 20 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77714227 77714227 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr13:77714227C>T ENST00000407578.2 - 51 7739 c.7473G>A c.(7471-7473)caG>caA p.Q2491Q MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Silent_p.Q2453Q|MYCBP2_ENST00000357337.6_Silent_p.Q2453Q NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2453 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CTATGCCTATCTGCTCACTCT 0.423000 10 36 0 0 1 0 0 NIPAL3 57185 broad.mit.edu 37 1 24768670 24768670 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:24768670C>T ENST00000003912.3 + 5 757 c.42C>T c.(40-42)ttC>ttT p.F14F NIPAL3_ENST00000374399.4_Silent_p.F96F|NIPAL3_ENST00000358028.4_Silent_p.F96F|NIPAL3_ENST00000428131.1_Silent_p.F96F|NIPAL3_ENST00000339255.2_Silent_p.F96F Q6P499 NPAL3_HUMAN NIPA-like domain containing 3 96 integral to membrane endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1) 14 CCTACGCCTTCGCGCCGCTGT 0.632000 50 93 0 0 1 0 0 PHF8 23133 broad.mit.edu 37 X 54048789 54048789 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chrX:54048789G>A ENST00000338154.6 - 4 700 c.196C>T c.(196-198)Cgt>Tgt p.R66C PHF8_ENST00000338946.6_Missense_Mutation_p.R66C|PHF8_ENST00000357988.5_Missense_Mutation_p.R102C|PHF8_ENST00000322659.8_Missense_Mutation_p.R66C NM_015107.2 NP_055922.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 102 brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 GAAGATCCACGGCGTTTTTTC 0.493000 43 17 0 0 1 0 0 GLTSCR1 29998 broad.mit.edu 37 19 48197590 48197590 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:48197590C>G ENST00000396720.3 + 8 2696 c.2502C>G c.(2500-2502)atC>atG p.I834M CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 834 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) TGCCTGGCATCTTTGTCATCC 0.721000 19 9 0 0 1 0 0 SEPHS1 22929 broad.mit.edu 37 10 13361208 13361208 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:13361208C>G ENST00000327347.5 - 9 1488 c.1113G>C c.(1111-1113)cgG>cgC p.R371R SEPHS1_ENST00000378614.4_Silent_p.R300R|SEPHS1_ENST00000537130.1_Silent_p.R304R|SEPHS1_ENST00000545675.1_3'UTR NM_001195602.1|NM_012247.4 NP_001182531.1|NP_036379.2 P49903 SPS1_HUMAN selenophosphate synthetase 1 371 protein modification process ATP binding|GTP binding|selenide, water dikinase activity cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1) 16 CCTCGATGATCCGGGGTTTGT 0.478000 79 195 0 0 1 0 0 TMPRSS3 64699 broad.mit.edu 37 21 43800263 43800263 + Silent SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:43800263C>A ENST00000291532.3 - 10 1966 c.1011G>T c.(1009-1011)gtG>gtT p.V337V TMPRSS3_ENST00000433957.2_Silent_p.V337V|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000398405.1_Silent_p.V335V|TMPRSS3_ENST00000380399.1_Silent_p.V421V NM_032404.2 NP_115780.1 P57727 TMPS3_HUMAN transmembrane protease, serine 3 337 Peptidase S1. cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1) 13 ACGTCCAGCACACTTTTCCAT 0.557000 3 46 1.024e-07 1.0739e-07 1 1 0 DNHD1 144132 broad.mit.edu 37 11 6591874 6591874 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:6591874G>C ENST00000254579.6 + 42 13696 c.13132G>C c.(13132-13134)Gag>Cag p.E4378Q DNHD1_ENST00000527990.2_Missense_Mutation_p.E4378Q NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 4378 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TGCAATGGCAGAGTGCAAGGC 0.617000 2 7 0 0 1 0 0 PIP4K2A 5305 broad.mit.edu 37 10 22830915 22830915 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:22830915C>G ENST00000376573.4 - 8 1082 c.854G>C c.(853-855)aGa>aCa p.R285T PIP4K2A_ENST00000323883.7_Missense_Mutation_p.R145T|PIP4K2A_ENST00000545335.1_Missense_Mutation_p.R226T NM_005028.4 NP_005019.2 P48426 PI42A_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, alpha 285 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 29 CTGTTCGGCTCTCTCCACATC 0.607000 33 56 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131340465 131340465 + Nonsense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:131340465G>T ENST00000358161.5 + 9 1275 c.1162G>T c.(1162-1164)Gag>Tag p.E388* SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.E388*|SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.E388* Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 388 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 CAATGCAGATGAGCTTGCCAG 0.488000 21 40 5.61819e-17 6.08166e-17 1 1 0 IFNAR1 3454 broad.mit.edu 37 21 34717656 34717656 + Nonsense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:34717656C>T ENST00000270139.3 + 6 930 c.778C>T c.(778-780)Cag>Tag p.Q260* IFNAR1_ENST00000416947.2_Nonsense_Mutation_p.Q191*|IFNAR1_ENST00000442357.2_Nonsense_Mutation_p.Q260* NM_000629.2 NP_000620.2 P17181 INAR1_HUMAN interferon (alpha, beta and omega) receptor 1 260 Fibronectin type-III 2. JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway integral to plasma membrane type I interferon receptor activity breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2) 14 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) CTTTCAAGTTCAGTGGCTCCA 0.383000 9 28 0 0 1 0 0 UBE2C 11065 broad.mit.edu 37 20 44442074 44442074 + Splice_Site SNP A A G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:44442074A>G ENST00000372568.4 + 2 285 c.e2-1 UBE2C_ENST00000335046.3_Splice_Site|UBE2C_ENST00000352551.5_Splice_Site|UBE2C_ENST00000356455.4_Splice_Site|UBE2C_ENST00000405520.1_5'UTR|UBE2C_ENST00000243893.6_Splice_Site NM_181801.2 NP_861517.1 O00762 UBE2C_HUMAN ubiquitin-conjugating enzyme E2C activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization anaphase-promoting complex|cytosol|nucleoplasm ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(2)|lung(2)|skin(1) 5 Myeloproliferative disorder(115;0.0122) CTCTTTTTTCAGGCTACAGCA 0.542000 32 125 0 0 1 0 0 ZNF492 57615 broad.mit.edu 37 19 22847715 22847715 + Missense_Mutation SNP A A G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:22847715A>G ENST00000456783.2 + 4 1488 c.1244A>G c.(1243-1245)cAt>cGt p.H415R NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 415 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) AAGATAATTCATACTGGAGAG 0.378000 27 54 0 0 1 0 0 OR5M11 219487 broad.mit.edu 37 11 56310058 56310058 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:56310058G>A ENST00000528616.2 - 1 699 c.676C>T c.(676-678)Cgg>Tgg p.R226W NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 GATTTGATCCGGAGGATGGCA 0.493000 23 48 0 0 1 0 0 REPIN1 29803 broad.mit.edu 37 7 150068792 150068792 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:150068792C>T ENST00000397281.2 + 4 951 c.462C>T c.(460-462)ttC>ttT p.F154F REPIN1_ENST00000540729.1_Silent_p.F154F|REPIN1_ENST00000425389.2_Silent_p.F154F|REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000489432.2_Silent_p.F211F|REPIN1_ENST00000482680.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000444957.1_Silent_p.F154F NM_013400.3 NP_037532.2 Q9BWE0 REPI1_HUMAN replication initiator 1 154 DNA replication nuclear origin of replication recognition complex DNA binding|zinc ion binding cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) AGAGACGCTTCTGGCGACGAA 0.662000 6 6 0 0 1 0 0 KIN 22944 broad.mit.edu 37 10 7829810 7829810 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:7829810C>G ENST00000379562.4 - 1 134 c.87G>C c.(85-87)caG>caC p.Q29H KIN_ENST00000543003.1_5'UTR|KIN_ENST00000535925.1_Missense_Mutation_p.Q29H NM_012311.3 NP_036443.1 O60870 KIN17_HUMAN KIN, antigenic determinant of recA protein homolog (mouse) DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix double-stranded DNA binding|RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2) 19 TCTGGCACATCTGGCAATACC 0.627000 73 117 0 0 1 0 0 THAP3 90326 broad.mit.edu 37 1 6688662 6688662 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:6688662C>T ENST00000377627.3 + 2 205 c.178C>T c.(178-180)Cgg>Tgg p.R60W THAP3_ENST00000307896.6_Missense_Mutation_p.R60W|THAP3_ENST00000054650.4_Missense_Mutation_p.R60W NM_138350.3 NP_612359.2 Q8WTV1 THAP3_HUMAN THAP domain containing, apoptosis associated protein 3 60 DNA binding|metal ion binding breast(1)|cervix(1)|large_intestine(1)|prostate(1) 4 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) CGAGCACTTCCGGCCAGAGTG 0.607000 19 24 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19468063 19468063 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:19468063T>C ENST00000219821.5 + 1 292 c.35T>C c.(34-36)aTa>aCa p.I12T TMC5_ENST00000561503.1_5'UTR|TMC5_ENST00000396229.2_Intron|TMC5_ENST00000564959.1_Missense_Mutation_p.I12T|TMC5_ENST00000541464.1_Intron|TMC5_ENST00000542583.2_Intron|TMC5_ENST00000381414.4_Intron NM_024780.4 NP_079056.2 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 0 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GAAATCATCATACAGGTTGAG 0.483000 21 68 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30348940 30348940 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:30348940C>G ENST00000327564.7 + 1 917 c.856C>G c.(856-858)Caa>Gaa p.Q286E LRRC37B_ENST00000543378.2_Missense_Mutation_p.Q177E|LRRC37B_ENST00000394713.3_Missense_Mutation_p.Q259E|LRRC37B_ENST00000584368.1_Missense_Mutation_p.Q271E|LRRC37B_ENST00000341671.7_Missense_Mutation_p.Q259E Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 259 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) TGGACTTTCTCAATTCCATCT 0.527000 57 118 0 0 1 0 0 MYO19 80179 broad.mit.edu 37 17 34856680 34856680 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:34856680G>A ENST00000431794.3 - 23 2889 c.2367C>T c.(2365-2367)ctC>ctT p.L789L MYO19_ENST00000268852.9_Silent_p.L589L NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 789 IQ 2. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CTGCCTGGATGAGCATGACGG 0.647000 3 22 0 0 1 0 0 PRTG 283659 broad.mit.edu 37 15 55912272 55912272 + Missense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:55912272G>T ENST00000389286.4 - 20 3438 c.3391C>A c.(3391-3393)Cat>Aat p.H1131N NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 1131 multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TTGGACTCATGAGAAAACCGC 0.483000 30 44 1.36615e-20 1.48783e-20 1 1 0 CNGB1 1258 broad.mit.edu 37 16 57945763 57945763 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:57945763C>A ENST00000564448.1 - 25 2428 c.2368G>T c.(2368-2370)Gcc>Tcc p.A790S CNGB1_ENST00000251102.8_Missense_Mutation_p.A796S Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 796 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 AGAAGGTAGGCTGTGGTCCTG 0.562000 3 23 0.184627 0.185316 1 1 0 ZNF574 64763 broad.mit.edu 37 19 42583877 42583877 + Silent SNP C C T rs113091672 TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:42583877C>T ENST00000600245.1 + 2 1774 c.1119C>T c.(1117-1119)ttC>ttT p.F373F CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Silent_p.F373F|ZNF574_ENST00000222339.7_Silent_p.F463F Q6ZN55 ZN574_HUMAN zinc finger protein 574 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) GCCTGGCCTTCGGCACAGAGG 0.587000 7 31 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20848600 20848600 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:20848600G>A ENST00000262715.5 - 34 4837 c.4797C>T c.(4795-4797)ccC>ccT p.P1599P TEP1_ENST00000556935.1_Silent_p.P1491P|TEP1_ENST00000545983.1_5'UTR NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1599 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CGTCAGCCTCGGGGAGCTTTT 0.587000 5 36 0 0 1 0 0 HIPK4 147746 broad.mit.edu 37 19 40886736 40886736 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:40886736C>A ENST00000291823.2 - 3 1446 c.1162G>T c.(1162-1164)Gat>Tat p.D388Y NM_144685.3 NP_653286.2 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 388 cytoplasm ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 20 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) GGGGTCCCATCTTCTGCGGCC 0.662000 39 41 9.57592e-29 1.04926e-28 1 1 0 SOS2 6655 broad.mit.edu 37 14 50585132 50585132 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:50585132T>C ENST00000216373.5 - 23 4203 c.3929A>G c.(3928-3930)tAc>tGc p.Y1310C SOS2_ENST00000543680.1_Missense_Mutation_p.Y1277C NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 1310 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) CTCCCGTTTGTAAGTCTTTGG 0.483000 35 37 0 0 1 0 0 RNF40 9810 broad.mit.edu 37 16 30780218 30780218 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:30780218G>C ENST00000324685.6 + 15 2592 c.2157G>C c.(2155-2157)aaG>aaC p.K719N RNF40_ENST00000563683.1_Missense_Mutation_p.K679N|RNF40_ENST00000357890.5_Missense_Mutation_p.K619N|RNF40_ENST00000402121.3_Missense_Mutation_p.K411N NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 719 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) GGGAGAGCAAGAAGATCGCGG 0.592000 122 60 0 0 1 0 0 IL10RB 3588 broad.mit.edu 37 21 34640812 34640812 + Nonsense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:34640812C>T ENST00000290200.2 + 2 271 c.163C>T c.(163-165)Cag>Tag p.Q55* AP000295.9_ENST00000433395.2_Silent_p.L182L NM_000628.4 NP_000619.3 interleukin 10 receptor, beta endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 TTTCACAGCTCAGTACCTAAG 0.532000 20 60 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58357784 58357784 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:58357784G>A ENST00000249750.4 - 1 832 c.65C>T c.(64-66)tCg>tTg p.S22L CTD-2330J20.2_ENST00000559684.1_RNA|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.S22L|ALDH1A2_ENST00000537372.1_5'UTR|ALDH1A2_ENST00000558231.1_Intron NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 22 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) GAGGTGCAGCGACGCCATGAG 0.662000 10 17 0 0 1 0 0 SRBD1 55133 broad.mit.edu 37 2 45616464 45616464 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:45616464G>A ENST00000263736.4 - 21 3035 c.2973C>T c.(2971-2973)ctC>ctT p.L991L SRBD1_ENST00000535761.1_Silent_p.L510L|SRBD1_ENST00000490133.1_5'UTR NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 991 S1 motif. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) ACACCCGAATGAGGTCCAGAG 0.448000 37 69 0 0 1 0 0 CCDC151 115948 broad.mit.edu 37 19 11545659 11545659 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:11545659C>G ENST00000356392.4 - 1 266 c.179G>C c.(178-180)aGa>aCa p.R60T CCDC151_ENST00000591179.1_Missense_Mutation_p.R60T|CCDC151_ENST00000586836.1_Intron|CCDC151_ENST00000545100.1_Intron NM_145045.4 NP_659482.3 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 60 endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 12 CCCTGCACCTCTGTGGAAGGA 0.597000 OREG0025257 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 58 0 0 1 0 0 NR1H2 7376 broad.mit.edu 37 19 50881973 50881973 + Nonsense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:50881973C>T ENST00000253727.5 + 6 902 c.667C>T c.(667-669)Caa>Taa p.Q223* NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000599105.1_Nonsense_Mutation_p.Q223*|NR1H2_ENST00000593926.1_Nonsense_Mutation_p.Q223*|NR1H2_ENST00000598168.1_Nonsense_Mutation_p.Q223*|NR1H2_ENST00000411902.2_Nonsense_Mutation_p.Q126* NM_007121.5 NP_009052 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 223 negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 8 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) AACAGCGGCTCAAGAACTAAT 0.632000 27 30 0 0 1 0 0 TRIM5 85363 broad.mit.edu 37 11 5686256 5686256 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:5686256G>A ENST00000305836.5 - 8 1567 c.1265C>T c.(1264-1266)tCt>tTt p.S422F TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000380034.3_Missense_Mutation_p.S422F|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396847.3_3'UTR Q9C035 TRIM5_HUMAN tripartite motif containing 5 422 B30.2/SPRY. interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) GAAAGGAACAGAAGGAGTATG 0.398000 34 34 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138655808 138655808 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:138655808C>T ENST00000251691.4 + 33 5991 c.5825C>T c.(5824-5826)tCc>tTc p.S1942F NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 1942 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) ATCCTGCCCTCCTTCCAGTCC 0.577000 7 30 0 0 1 0 0 BBS9 27241 broad.mit.edu 37 7 33407465 33407465 + Missense_Mutation SNP A A C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:33407465A>C ENST00000242067.6 + 17 2301 c.1780A>C c.(1780-1782)Aaa>Caa p.K594Q BBS9_ENST00000354265.4_Missense_Mutation_p.K559Q|BBS9_ENST00000396127.2_Missense_Mutation_p.K559Q|BBS9_ENST00000355070.2_Missense_Mutation_p.K589Q|BBS9_ENST00000350941.3_Missense_Mutation_p.K554Q NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 594 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TCTTGCTTCCAAAACTTCTCG 0.363000 Bardet-Biedl syndrome 12 49 0 0 1 0 0 BBS5 129880 broad.mit.edu 37 2 170356086 170356086 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:170356086T>C ENST00000295240.3 + 9 1148 c.772T>C c.(772-774)Tct>Cct p.S258P BBS5_ENST00000392663.2_Missense_Mutation_p.S237P|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.S258P|BBS5_ENST00000554017.1_Missense_Mutation_p.S258P NM_152384.2 NP_689597.1 Bardet-Biedl syndrome 5 endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 CAAAGTCTATTCTGCCAGTCC 0.333000 Bardet-Biedl syndrome 3 120 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7643069 7643069 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:7643069C>T ENST00000572933.1 + 9 2649 c.1189C>T c.(1189-1191)Cac>Tac p.H397Y DNAH2_ENST00000082259.3_Missense_Mutation_p.H479Y|DNAH2_ENST00000570791.1_Missense_Mutation_p.H479Y|DNAH2_ENST00000389173.2_Missense_Mutation_p.H397Y Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 397 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTGTCAGTATCACTTCGCCCG 0.488000 10 5 0 0 1 0 0 TM9SF4 9777 broad.mit.edu 37 20 30753246 30753246 + Nonstop_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:30753246G>C ENST00000217315.5 + 18 2217 c.1877G>C c.(1876-1878)tGa>tCa p.*626S TM9SF4_ENST00000398022.2_Nonstop_Mutation_p.*643S Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 0 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) AAGATAGACTGATTGGAGTGG 0.537000 26 40 0 0 1 0 0 LMBR1L 55716 broad.mit.edu 37 12 49498238 49498238 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:49498238G>A ENST00000267102.8 - 5 770 c.428C>T c.(427-429)tCc>tTc p.S143F LMBR1L_ENST00000553204.1_Intron|LMBR1L_ENST00000395141.4_Missense_Mutation_p.S138F|LMBR1L_ENST00000547382.1_Missense_Mutation_p.S143F NM_018113.2 NP_060583.2 Q6UX01 LMBRL_HUMAN limb development membrane protein 1-like 143 endocytosis integral to membrane|plasma membrane receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TACCTTTCTGGAGCCAGCAAA 0.458000 54 132 0 0 1 0 0 SYS1 90196 broad.mit.edu 37 20 43995738 43995738 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:43995738C>T ENST00000243918.5 + 4 745 c.454C>T c.(454-456)Cct>Tct p.P152S SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000426004.1_Intron|SYS1_ENST00000372727.1_Missense_Mutation_p.P152S|SYS1_ENST00000479779.1_3'UTR|SYS1_ENST00000414310.1_Missense_Mutation_p.P131S|SYS1-DBNDD2_ENST00000475242.1_Intron NM_033542.3 NP_291020.1 Q8N2H4 SYS1_HUMAN SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae) 152 protein transport Golgi membrane|integral to membrane cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1) 7 Myeloproliferative disorder(115;0.0122) CAACTCAGCCCCTAAATCCAA 0.577000 33 77 0 0 1 0 0 UHRF1 29128 broad.mit.edu 37 19 4911005 4911005 + RNA SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:4911005C>T ENST00000592666.1 + 0 684 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 1 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) AGGAGCTGTTCCACGTGGAGC 0.637000 OREG0025176 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 56 74 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133816031 133816031 + Missense_Mutation SNP A A T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:133816031A>T ENST00000321016.8 - 2 417 c.187T>A c.(187-189)Ttc>Atc p.F63I IGSF9B_ENST00000533871.2_Missense_Mutation_p.F63I Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 63 Ig-like 1. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CCGAACTTGAACCACTCTACG 0.612000 13 21 0 0 1 0 0 CABP4 57010 broad.mit.edu 37 11 67223206 67223206 + Silent SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:67223206G>T ENST00000325656.5 + 1 389 c.312G>T c.(310-312)ctG>ctT p.L104L CABP4_ENST00000438189.2_5'UTR|CABP4_ENST00000542025.2_3'UTR NM_145200.3 NP_660201.1 P57796 CABP4_HUMAN calcium binding protein 4 104 visual perception cytoplasm|extracellular region|terminal button calcium ion binding central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) CTGACTCCCTGCACGACGCTG 0.677000 3 22 2.56e-06 2.65372e-06 1 1 0 COL27A1 85301 broad.mit.edu 37 9 117062947 117062947 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:117062947C>T ENST00000356083.3 + 51 5072 c.4681C>T c.(4681-4683)Cgg>Tgg p.R1561W NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1561 Collagen-like 15.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CCAGGGCCCTCGGGGGCCACC 0.622000 7 21 0 0 1 0 0 MAP3K10 4294 broad.mit.edu 37 19 40710537 40710537 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:40710537G>A ENST00000253055.3 + 3 1297 c.1009G>A c.(1009-1011)Gag>Aag p.E337K NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 337 Protein kinase. activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 CCGCCTCCTGGAGGGTGAGCC 0.652000 11 22 0 0 1 0 0 CXADR 1525 broad.mit.edu 37 21 18933792 18933792 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:18933792C>T ENST00000284878.7 + 6 1579 c.831C>T c.(829-831)atC>atT p.I277I CXADR_ENST00000306618.10_Silent_p.I236I|CXADR_ENST00000400165.1_Intron|CXADR_ENST00000400166.1_Intron|CXADR_ENST00000400169.1_Silent_p.I277I|CXADR_ENST00000356275.6_Intron NM_001338.4 NP_001329.1 P78310 CXAR_HUMAN coxsackie virus and adenovirus receptor 277 blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction receptor activity endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2) 11 Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782) ATCACGATATCAGGTAATTAA 0.363000 16 25 0 0 1 0 0 GDA 9615 broad.mit.edu 37 9 74838100 74838100 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:74838100G>A ENST00000358399.3 + 7 764 c.671G>A c.(670-672)gGt>gAt p.G224D GDA_ENST00000376989.3_Intron|GDA_ENST00000376986.1_Intron|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Missense_Mutation_p.G150D|GDA_ENST00000238018.4_Missense_Mutation_p.G224D NM_001242505.2|NM_001242506.2|NM_004293.4 NP_001229434.1|NP_001229435.1|NP_004284.1 Q9Y2T3 GUAD_HUMAN guanine deaminase 224 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) ACTTTGATGGGTGAACTGGGC 0.433000 8 73 0 0 1 0 0 GLRB 2743 broad.mit.edu 37 4 158091590 158091590 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr4:158091590G>A ENST00000264428.4 + 10 1474 c.1204G>A c.(1204-1206)Gag>Aag p.E402K GLRB_ENST00000512619.1_Silent_p.V43V|GLRB_ENST00000541722.1_Silent_p.*304*|GLRB_ENST00000509282.1_Missense_Mutation_p.E402K NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 402 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) TTAGGTTGGTGAGACCAGATG 0.308000 17 7 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43820098 43820098 + Nonsense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:43820098G>T ENST00000382031.1 + 5 7172 c.7141G>T c.(7141-7143)Gag>Tag p.E2381* MAP1A_ENST00000399453.1_Nonsense_Mutation_p.E2143*|MAP1A_ENST00000300231.5_Nonsense_Mutation_p.E2143* P78559 MAP1A_HUMAN microtubule-associated protein 1A 2143 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GCCAGAAACTGAGGCACATGT 0.592000 19 87 2.00529e-23 2.18833e-23 1 1 0 PRKCZ 5590 broad.mit.edu 37 1 2105377 2105377 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:2105377G>C ENST00000400921.2 + 11 1461 c.778G>C c.(778-780)Gag>Cag p.E260Q PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Missense_Mutation_p.E260Q NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C, zeta 443 Protein kinase. anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 18 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) CCTCATGTTTGAGATGATGGC 0.627000 OREG0013007 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 84 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 11 21 0 0 1 0 0 ASIC4 55515 broad.mit.edu 37 2 220400035 220400035 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:220400035G>C ENST00000358078.4 + 6 1613 c.1599G>C c.(1597-1599)gaG>gaC p.E533D ASIC4_ENST00000347842.3_Missense_Mutation_p.E514D Q96FT7 ACCN4_HUMAN acid-sensing (proton-gated) ion channel family member 4 514 integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity ACCGCAACGAGACCTACATAC 0.582000 9 9 0 0 1 0 0 COL28A1 340267 broad.mit.edu 37 7 7421178 7421178 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:7421178C>T ENST00000399429.3 - 28 2342 c.2202G>A c.(2200-2202)caG>caA p.Q734Q NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 734 Collagen-like 6. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) CACTTACCTTCTGGCCTGGGA 0.458000 40 79 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7724825 7724825 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:7724825G>A ENST00000303635.7 + 9 2425 c.2218G>A c.(2218-2220)Gtg>Atg p.V740M CAMTA1_ENST00000439411.2_Missense_Mutation_p.V740M NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 740 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CCCGGGCAACGTGGTGCAGGG 0.647000 T WWTR1 epitheliod hemangioendothelioma 36 56 0 0 1 0 0 SEPT11 55752 broad.mit.edu 37 4 77917662 77917662 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr4:77917662C>G ENST00000264893.6 + 2 313 c.112C>G c.(112-114)Caa>Gaa p.Q38E SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000502584.1_Missense_Mutation_p.Q38E|SEPT11_ENST00000505788.1_Missense_Mutation_p.Q38E|SEPT11_ENST00000541121.1_Missense_Mutation_p.Q48E|SEPT11_ENST00000510515.1_Missense_Mutation_p.Q48E NM_018243.2 NP_060713.1 Q9NVA2 SEP11_HUMAN septin 11 38 cell cycle|cell division|protein heterooligomerization axon|cell junction|dendritic spine|septin complex|stress fiber|synapse GTP binding|protein binding endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1) 11 GTCTACTTCTCAAGGATTCTG 0.438000 10 60 0 0 1 0 0 BTNL8 79908 broad.mit.edu 37 5 180338519 180338519 + Missense_Mutation SNP T T G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:180338519T>G ENST00000231229.4 + 3 812 c.578T>G c.(577-579)aTc>aGc p.I193S BTNL8_ENST00000533815.2_Missense_Mutation_p.I9S|BTNL8_ENST00000400707.3_Missense_Mutation_p.I68S|BTNL8_ENST00000505126.1_De_novo_Start_InFrame|BTNL8_ENST00000340184.4_Missense_Mutation_p.I193S|BTNL8_ENST00000508408.1_Missense_Mutation_p.I193S|BTNL8_ENST00000511704.1_Missense_Mutation_p.I77S NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 193 Ig-like V-type 2. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GATGTGGAGATCTCTCTGACC 0.552000 31 36 0 0 1 0 0 BTAF1 9044 broad.mit.edu 37 10 93778679 93778679 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:93778679C>T ENST00000265990.6 + 34 5158 c.4850C>T c.(4849-4851)tCa>tTa p.S1617L BTAF1_ENST00000544642.1_Missense_Mutation_p.S445L NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 1617 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity p.S1617*(1) central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) CCTAAGCTCTCAGCTTTGAAA 0.353000 13 75 0 0 1 0 0 ADGRG1 9289 broad.mit.edu 37 16 57693505 57693505 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:57693505C>G ENST00000562631.1 + 11 1999 c.1467C>G c.(1465-1467)ctC>ctG p.L489L GPR56_ENST00000388812.4_Silent_p.L495L|GPR56_ENST00000379694.4_Silent_p.L325L|GPR56_ENST00000388813.5_Silent_p.L489L|GPR56_ENST00000544297.1_Silent_p.L314L|GPR56_ENST00000540164.2_Silent_p.L489L|GPR56_ENST00000379696.3_Silent_p.L495L|GPR56_ENST00000568909.1_Silent_p.L495L|GPR56_ENST00000456916.1_Silent_p.L495L|GPR56_ENST00000562558.1_Silent_p.L489L|GPR56_ENST00000538815.1_Silent_p.L489L|GPR56_ENST00000567835.1_Silent_p.L495L|GPR56_ENST00000568908.1_Silent_p.L489L Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 495 brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 15 GGATGGGCCTCGAGGGGTACA 0.622000 27 75 0 0 1 0 0 TYR 7299 broad.mit.edu 37 11 88924428 88924428 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:88924428C>T ENST00000263321.5 + 2 1380 c.878C>T c.(877-879)cCc>cTc p.P293L TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 293 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) AATGGAACGCCCGAGGGACCT 0.473000 34 79 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50530602 50530602 + Silent SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr22:50530602G>C ENST00000262794.5 + 2 353 c.270G>C c.(268-270)ctG>ctC p.L90L MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Silent_p.L90L|MOV10L1_ENST00000395858.3_Silent_p.L90L|MOV10L1_ENST00000475190.1_3'UTR|MOV10L1_ENST00000540615.1_Silent_p.L70L NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 90 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) CCAATGGACTGAAAGCAATCA 0.418000 29 13 0 0 1 0 0 METTL20 254013 broad.mit.edu 37 12 31820829 31820829 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:31820829C>T ENST00000357721.3 + 4 909 c.694C>T c.(694-696)Cac>Tac p.H232Y METTL20_ENST00000538463.1_Missense_Mutation_p.H232Y|METTL20_ENST00000395763.3_Missense_Mutation_p.H232Y|METTL20_ENST00000538391.1_3'UTR|METTL20_ENST00000412352.2_Missense_Mutation_p.H232Y NM_001135863.1 NP_001129335.1 Q8IXQ9 MET20_HUMAN methyltransferase like 20 232 cytoplasm protein methyltransferase activity lung(2)|stomach(1) 3 CATTCAGCATCACCTGCACAA 0.488000 30 59 0 0 1 0 0 ZNF232 7775 broad.mit.edu 37 17 5009120 5009120 + Nonstop_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:5009120C>G ENST00000250076.3 - 5 1988 c.1334G>C c.(1333-1335)tGa>tCa p.*445S ZNF232_ENST00000575898.1_Nonstop_Mutation_p.*436S NM_014519.2 NP_055334.2 Q9UNY5 ZN232_HUMAN zinc finger protein 232 0 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2) 11 CCCTTCAATTCAATGGGAAGG 0.403000 36 22 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104044296 104044296 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:104044296G>A ENST00000388887.2 + 11 1401 c.1197G>A c.(1195-1197)ctG>ctA p.L399L NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 399 FAS1 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CCTGGCCACTGAGTAAGCTGG 0.448000 14 37 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111117923 111117923 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr13:111117923C>T ENST00000360467.5 + 25 2254 c.1948C>T c.(1948-1950)Cct>Tct p.P650S NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 650 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CCTGGGCCCTCCTGGCCCCGC 0.587000 9 18 0 0 1 0 0 FAM154A 158297 broad.mit.edu 37 9 18928110 18928110 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:18928110G>A ENST00000380534.4 - 4 1644 c.1365C>T c.(1363-1365)agC>agT p.S455S FAM154A_ENST00000542071.1_Silent_p.S263S|FAM154A_ENST00000380530.1_3'UTR NM_153707.2 NP_714918.2 Q8IYX7 F154A_HUMAN family with sequence similarity 154, member A 455 breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1) 26 GBM - Glioblastoma multiforme(50;6.53e-16) CAGAAAGATGGCTGCTCTGCT 0.433000 51 44 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 33987121 33987121 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:33987121G>A ENST00000373381.4 - 68 10715 c.10539C>T c.(10537-10539)ttC>ttT p.F3513F NM_001281956.1|NM_052896.3 NP_001268885.1|NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3369 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CTTGGTAGATGAAGGTGGCTC 0.577000 27 48 0 0 1 0 0 ANKDD1A 348094 broad.mit.edu 37 15 65209672 65209672 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:65209672G>A ENST00000380230.3 + 3 255 c.226G>A c.(226-228)Gag>Aag p.E76K ANKDD1A_ENST00000357698.3_Missense_Mutation_p.E76K|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000319580.8_Intron|ANKDD1A_ENST00000496660.1_Intron|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.E76K NM_182703.3 NP_874362.3 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 76 signal transduction NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2) 21 TGCTGTGGACGAGGAGGATGC 0.657000 2 3 0 0 1 0 0 CNNM2 54805 broad.mit.edu 37 10 104814140 104814140 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:104814140C>G ENST00000369878.4 + 3 2008 c.1820C>G c.(1819-1821)tCt>tGt p.S607C CNNM2_ENST00000433628.2_Missense_Mutation_p.S607C NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CAAGATTTTTCTGCCTTTAAG 0.433000 OREG0020489 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 15 0 0 1 0 0 ZNF232 7775 broad.mit.edu 37 17 5009367 5009367 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:5009367C>G ENST00000250076.3 - 5 1741 c.1087G>C c.(1087-1089)Gaa>Caa p.E363Q ZNF232_ENST00000575898.1_Missense_Mutation_p.E354Q|ZNF232_ENST00000416429.2_3'UTR NM_014519.2 NP_055334.2 Q9UNY5 ZN232_HUMAN zinc finger protein 232 336 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2) 11 TTCCCACATTCATTACATTCG 0.463000 19 26 0 0 1 0 0 MRPL19 9801 broad.mit.edu 37 2 75879657 75879657 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:75879657C>G ENST00000393909.2 + 4 374 c.349C>G c.(349-351)Ctt>Gtt p.L117V MRPL19_ENST00000409374.1_Missense_Mutation_p.L117V|MRPL19_ENST00000358788.6_Missense_Mutation_p.L117V NM_014763.3 NP_055578.2 P49406 RM19_HUMAN mitochondrial ribosomal protein L19 117 translation mitochondrion|nuclear membrane|ribosome structural constituent of ribosome kidney(1)|large_intestine(1)|lung(6) 8 AGGAAGTATTCTTCGTGTTAC 0.383000 32 72 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100552667 100552667 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:100552667C>T ENST00000319509.7 + 1 1418 c.1418C>T c.(1417-1419)tCa>tTa p.S473L mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 ACTAGGACTTCAGAGACACCA 0.557000 76 170 0 0 1 0 0 ERG 2078 broad.mit.edu 37 21 39817505 39817505 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:39817505C>G ENST00000442448.1 - 4 350 c.79G>C c.(79-81)Gag>Cag p.E27Q ERG_ENST00000288319.7_Missense_Mutation_p.E20Q|ERG_ENST00000429727.2_Missense_Mutation_p.E20Q|ERG_ENST00000417133.2_Missense_Mutation_p.E27Q|ERG_ENST00000398907.1_Missense_Mutation_p.E20Q|ERG_ENST00000453032.2_Intron|ERG_ENST00000398910.1_Missense_Mutation_p.E27Q|ERG_ENST00000398919.2_Missense_Mutation_p.E27Q|ERG_ENST00000398905.1_Missense_Mutation_p.E20Q|ERG_ENST00000398911.1_Missense_Mutation_p.E27Q|ERG_ENST00000398897.1_Intron NM_004449.4 NP_004440.1 P11308 ERG_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 27 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) TAGGCACACTCAAACAACGAC 0.502000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 18 40 0 0 1 0 0 JPH3 57338 broad.mit.edu 37 16 87677915 87677915 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:87677915G>A ENST00000284262.2 + 2 676 c.434G>A c.(433-435)cGg>cAg p.R145Q NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 145 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) TACGGCGTCCGGCAGAGCGTC 0.677000 39 38 0 0 1 0 0 CDH1 999 broad.mit.edu 37 16 68844139 68844139 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:68844139G>C ENST00000261769.5 + 6 918 c.727G>C c.(727-729)Gag>Cag p.E243Q CDH1_ENST00000422392.2_Missense_Mutation_p.E243Q|CDH1_ENST00000562836.1_3'UTR NM_004360.3 NP_004351.1 P12830 CADH1_HUMAN cadherin 1, type 1, E-cadherin (epithelial) 243 Cadherin 1. adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(4)|p.E243*(2)|p.E243K(1) NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) GAATGCAGTTGAGGATCCAAT 0.493000 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 63 89 0 0 1 0 0 TMEM38B 55151 broad.mit.edu 37 9 108457020 108457020 + Missense_Mutation SNP C C G rs11542697 TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:108457020C>G ENST00000374692.3 + 1 196 c.79C>G c.(79-81)Cta>Gta p.L27V NM_018112.1 NP_060582.1 Q9NVV0 TM38B_HUMAN transmembrane protein 38B 27 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 CGCGCACTATCTAGTGTCAGT 0.622000 32 71 0 0 1 0 0 FNBP1 23048 broad.mit.edu 37 9 132658267 132658267 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:132658267C>T ENST00000420781.1 - 16 1887 c.1669G>A c.(1669-1671)Gaa>Aaa p.E557K FNBP1_ENST00000355681.3_Missense_Mutation_p.E537K|FNBP1_ENST00000443566.2_Missense_Mutation_p.E194K|FNBP1_ENST00000446176.2_Missense_Mutation_p.E566K Q96RU3 FNBP1_HUMAN formin binding protein 1 566 Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and DNM3.|Interaction with DNM2 and WASL.|Interaction with FASLG.|Interaction with PDE6G (By similarity).|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.|SH3. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) ATCGTTCCTTCATTCTGACCT 0.448000 T MLL AML 23 61 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123419015 123419015 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:123419015G>C ENST00000360772.3 - 19 3678 c.3300C>G c.(3298-3300)ttC>ttG p.F1100L MYLK_ENST00000346322.5_Missense_Mutation_p.F1031L|MYLK_ENST00000359169.1_Missense_Mutation_p.F1100L|MYLK_ENST00000360304.3_Missense_Mutation_p.F1100L|MYLK_ENST00000475616.1_Missense_Mutation_p.F1100L Q15746 MYLK_HUMAN myosin light chain kinase 1100 Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 7. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GCTTCTGCTTGAAGGCTGGGG 0.532000 36 62 0 0 1 0 0 CACTIN 58509 broad.mit.edu 37 19 3620192 3620192 + Nonsense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:3620192C>A ENST00000429344.2 - 4 869 c.817G>T c.(817-819)Gag>Tag p.E273* CACTIN_ENST00000221899.3_Nonsense_Mutation_p.E205*|CACTIN_ENST00000248420.5_Nonsense_Mutation_p.E273* NM_001080543.1 NP_001074012.1 cactin, spliceosome C complex subunit TGCTCTGCCTCCTTCTCGCGC 0.672000 7 20 1.58986e-06 1.65125e-06 1 1 0 F13A1 2162 broad.mit.edu 37 6 6224981 6224981 + Missense_Mutation SNP C C T rs139164988 TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:6224981C>T ENST00000264870.3 - 7 1176 c.911G>A c.(910-912)cGg>cAg p.R304Q NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 304 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) CTCAGAGCTCCGGTATTCCAA 0.463000 38 73 0 0 1 0 0 KIAA0947 23379 broad.mit.edu 37 5 5465303 5465303 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:5465303G>C ENST00000296564.7 + 13 6078 c.5856G>C c.(5854-5856)gaG>gaC p.E1952D NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 1952 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 GAGATCAAGAGAAGGAAGTTG 0.368000 2 6 0 0 1 0 0 ZNF232 7775 broad.mit.edu 37 17 5009220 5009220 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:5009220C>G ENST00000250076.3 - 5 1888 c.1234G>C c.(1234-1236)Gag>Cag p.E412Q ZNF232_ENST00000575898.1_Missense_Mutation_p.E403Q NM_014519.2 NP_055334.2 Q9UNY5 ZN232_HUMAN zinc finger protein 232 385 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2) 11 AAAGGTTTCTCTCCACTGTGA 0.443000 25 20 0 0 1 0 0 PTPRG 5793 broad.mit.edu 37 3 62189597 62189597 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:62189597G>C ENST00000474889.1 + 12 2505 c.2128G>C c.(2128-2130)Gac>Cac p.D710H PTPRG_ENST00000295874.10_Missense_Mutation_p.D710H NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 710 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) ATTTTCTGAAGACAGCAGATT 0.512000 20 54 0 0 1 0 0 PRMT2 3275 broad.mit.edu 37 21 48071881 48071881 + Nonsense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:48071881C>G ENST00000334494.4 + 7 985 c.818C>G c.(817-819)tCa>tGa p.S273* PRMT2_ENST00000451211.2_Intron|PRMT2_ENST00000397638.2_Intron|PRMT2_ENST00000440086.1_Intron|PRMT2_ENST00000355680.3_Intron|PRMT2_ENST00000291705.6_Intron|PRMT2_ENST00000397637.1_Intron|PRMT2_ENST00000458387.2_Intron NM_001242865.1 NP_001229794.1 P55345 ANM2_HUMAN protein arginine methyltransferase 2 0 Interaction with ESR1. 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) CCTCAGCCCTCAGGCCTTCAT 0.567000 17 52 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151851456 151851456 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:151851456C>G ENST00000355193.2 - 48 12424 c.12206G>C c.(12205-12207)gGg>gCg p.G4069A KMT2C_ENST00000262189.6_Missense_Mutation_p.G4012A|KMT2C_ENST00000485241.1_5'UTR lysine (K)-specific methyltransferase 2C CACTTCTACCCCAACCACACT 0.498000 37 121 0 0 1 0 0 ZNF532 55205 broad.mit.edu 37 18 56587297 56587297 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr18:56587297C>T ENST00000336078.4 + 4 2554 c.1778C>T c.(1777-1779)cCa>cTa p.P593L ZNF532_ENST00000591230.1_Missense_Mutation_p.P593L|ZNF532_ENST00000591083.1_Missense_Mutation_p.P593L|ZNF532_ENST00000591808.1_Missense_Mutation_p.P593L|ZNF532_ENST00000589288.1_Missense_Mutation_p.P593L NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 593 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 AGTGTCAATCCAGTCCCTGTT 0.557000 10 26 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138483238 138483238 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:138483238G>A ENST00000251691.4 + 1 181 c.15G>A c.(13-15)ctG>ctA p.L5L NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 5 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) AAGAAATCCTGAGGAAGCTGC 0.697000 3 22 0 0 1 0 0 SLC28A3 64078 broad.mit.edu 37 9 86955491 86955491 + Nonsense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:86955491G>A ENST00000376238.4 - 1 107 c.58C>T c.(58-60)Cag>Tag p.Q20* SLC28A3_ENST00000537648.1_5'UTR|SLC28A3_ENST00000495823.1_5'UTR NM_001199633.1|NM_022127.2 NP_001186562.1|NP_071410.1 Q9HAS3 S28A3_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 3 20 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 CTGCTCACCTGGAAGCCCACG 0.532000 20 31 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50726223 50726223 + Splice_Site SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr22:50726223C>A ENST00000449103.1 - 7 1622 c.e7-1 PLXNB2_ENST00000359337.4_Splice_Site O15031 PLXB2_HUMAN plexin B2 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCGGGTGCATCTGCAGGCGCA 0.706000 8 6 3.86212e-05 3.96531e-05 1 1 0 KCNH4 23415 broad.mit.edu 37 17 40321612 40321612 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:40321612G>A ENST00000264661.3 - 9 1805 c.1473C>T c.(1471-1473)cgC>cgT p.R491R KCNH4_ENST00000607371.1_Silent_p.R491R NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 491 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GGTCCTTCATGCGGCTGTGGT 0.637000 24 57 0 0 1 0 0 ASB14 142686 broad.mit.edu 37 3 57312522 57312522 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:57312522C>T ENST00000487349.1 - 8 1434 c.1314G>A c.(1312-1314)agG>agA p.R438R ASB14_ENST00000389601.3_Silent_p.R438R NM_001142733.2|NM_130387.5 NP_001136205.2|NP_569058.1 A6NK59 ASB14_HUMAN ankyrin repeat and SOCS box containing 14 438 intracellular signal transduction central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2) 5 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) TCAGCAGCATCCTGAGCATGA 0.453000 108 152 0 0 1 0 0 ATP13A3 79572 broad.mit.edu 37 3 194159590 194159590 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:194159590C>G ENST00000439040.1 - 17 2613 c.1822G>C c.(1822-1824)Gaa>Caa p.E608Q ATP13A3_ENST00000256031.4_Missense_Mutation_p.E608Q Q9H7F0 AT133_HUMAN ATPase type 13A3 608 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) CTCACCATTTCTTGGTTTCCT 0.348000 40 94 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90124866 90124866 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:90124866G>A ENST00000405460.2 + 77 16570 c.16474G>A c.(16474-16476)Gat>Aat p.D5492N GPR98_ENST00000425867.2_Missense_Mutation_p.D1153N NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5492 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CTTAGAAAGTGATGAATCTCA 0.433000 35 34 0 0 1 0 0 RUVBL1 8607 broad.mit.edu 37 3 127800229 127800229 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:127800229G>A ENST00000322623.5 - 11 1334 c.1235C>T c.(1234-1236)cCg>cTg p.P412L RUVBL1_ENST00000417360.1_Silent_p.P381P|RUVBL1_ENST00000464873.1_Intron NM_003707.2 NP_003698.1 Q9Y265 RUVB1_HUMAN RuvB-like AAA ATPase 1 412 cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|DNA helicase activity|protein binding endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GBM - Glioblastoma multiforme(114;0.181) CAAGTTGGCCGGGGTCAGCAG 0.537000 3 48 0 0 1 0 0 CABIN1 23523 broad.mit.edu 37 22 24456601 24456601 + Silent SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr22:24456601C>A ENST00000398319.2 + 12 1999 c.1614C>A c.(1612-1614)atC>atA p.I538I CABIN1_ENST00000405822.2_Silent_p.I488I|CABIN1_ENST00000263119.5_Silent_p.I538I NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 538 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 ACAAGCACATCAAGGTTAGGG 0.617000 3 71 1 1 1 1 0 PTPRT 11122 broad.mit.edu 37 20 41419965 41419965 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:41419965G>A ENST00000373198.4 - 3 591 c.356C>T c.(355-357)gCc>gTc p.A119V PTPRT_ENST00000373201.1_Missense_Mutation_p.A119V|PTPRT_ENST00000373187.1_Missense_Mutation_p.A119V|PTPRT_ENST00000356100.2_Missense_Mutation_p.A119V|PTPRT_ENST00000373190.1_Missense_Mutation_p.A119V|PTPRT_ENST00000373184.1_Missense_Mutation_p.A119V|PTPRT_ENST00000373193.3_Missense_Mutation_p.A119V NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T MAM. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GACGTTCAAGGCCCCTGGGCT 0.597000 34 44 0 0 1 0 0 OR10X1 128367 broad.mit.edu 37 1 158549434 158549434 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:158549434C>T ENST00000368150.1 - 1 255 c.256G>A c.(256-258)Gag>Aag p.E86K NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) TAGCAGGTCTCAGAGAAGGAG 0.498000 18 42 0 0 1 0 0 CYFIP1 23191 broad.mit.edu 37 15 22925788 22925788 + Silent SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:22925788G>T ENST00000313077.7 + 2 131 c.6G>T c.(4-6)gcG>gcT p.A2A CYFIP1_ENST00000560848.1_Silent_p.A2A NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 2 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) CCAGGATGGCGGCCCAGGTGA 0.647000 10 9 0.000151284 0.00015415 1 1 0 ATAD5 79915 broad.mit.edu 37 17 29196272 29196272 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:29196272C>T ENST00000321990.4 + 13 3698 c.3320C>T c.(3319-3321)tCg>tTg p.S1107L NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1107 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) TCAGATTTCTCGGGTGGCATA 0.393000 21 39 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87174162 87174162 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:87174162T>C ENST00000265724.3 - 17 2458 c.2041A>G c.(2041-2043)Aag>Gag p.K681E ABCB1_ENST00000543898.1_Missense_Mutation_p.K617E NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 681 G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GTACTAAGCTTTCTGTCTTGG 0.433000 10 100 0 0 1 0 0 PIWIL3 440822 broad.mit.edu 37 22 25150040 25150040 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr22:25150040C>G ENST00000332271.5 - 8 1334 c.918G>C c.(916-918)caG>caC p.Q306H PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.Q197H|PIWIL3_ENST00000533313.1_Missense_Mutation_p.Q197H NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 306 PAZ. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TGTTTCCTGTCTGGGCCTGGG 0.388000 52 296 0 0 1 0 0 FGF17 8822 broad.mit.edu 37 8 21903643 21903643 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr8:21903643C>G ENST00000359441.3 + 3 594 c.91C>G c.(91-93)Cct>Gct p.P31A FGF17_ENST00000518533.1_Intron|FGF17_ENST00000521709.1_Intron NM_003867.2 NP_003858.1 O60258 FGF17_HUMAN fibroblast growth factor 17 31 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development extracellular space growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 8 Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618) TCACCCGTCTCCTAATTTTAA 0.557000 30 22 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87180046 87180046 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:87180046C>G ENST00000265724.3 - 11 1525 c.1108G>C c.(1108-1110)Gat>Cat p.D370H ABCB1_ENST00000543898.1_Missense_Mutation_p.D306H NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 370 G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CTTACATTATCAATTATCTTG 0.373000 13 37 0 0 1 0 0 ZNF92 168374 broad.mit.edu 37 7 64863789 64863789 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:64863789G>A ENST00000328747.7 + 4 961 c.762G>A c.(760-762)gaG>gaA p.E254E ZNF92_ENST00000357512.2_Silent_p.E222E|ZNF92_ENST00000431504.1_Silent_p.E178E|ZNF92_ENST00000450302.2_Silent_p.E185E NM_152626.2 NP_689839.1 Q03936 ZNF92_HUMAN zinc finger protein 92 254 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) ATACTGGAGAGAAACCCTACA 0.353000 4 105 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544724 23544724 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:23544724T>C ENST00000300619.7 - 4 1262 c.1057A>G c.(1057-1059)Aaa>Gaa p.K353E ZNF91_ENST00000397082.2_Missense_Mutation_p.K321E|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 353 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.K353E(1) all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CCACATTCTTTACATTTGTAG 0.373000 3 99 0 0 1 0 0 THNSL2 55258 broad.mit.edu 37 2 88485580 88485580 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:88485580C>T ENST00000324166.5 + 8 3084 c.1393C>T c.(1393-1395)Cgg>Tgg p.R465W THNSL2_ENST00000377254.3_3'UTR|THNSL2_ENST00000449349.1_3'UTR|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000358591.2_Missense_Mutation_p.R465W|THNSL2_ENST00000343544.4_3'UTR NM_018271.4 NP_060741.3 Q86YJ6 THNS2_HUMAN threonine synthase-like 2 (S. cerevisiae) 465 threonine biosynthetic process threonine synthase activity breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 27 GCTGATGCTTCGGGACACCAT 0.592000 3 7 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55581763 55581763 + Missense_Mutation SNP A A T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:55581763A>T ENST00000361849.3 - 34 6123 c.5729T>A c.(5728-5730)cTa>cAa p.L1910Q PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.L762Q|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.L1839Q|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000320301.6_Missense_Mutation_p.L1908Q|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.L1905Q|PCDH15_ENST00000395433.1_Missense_Mutation_p.L1885Q|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.L1868Q NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1908 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ATTTGTGCGTAGATAGTTTTT 0.358000 HNSCC(58;0.16) 5 63 0 0 1 0 0 JRKL 8690 broad.mit.edu 37 11 96124929 96124929 + Silent SNP A A G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:96124929A>G ENST00000458427.1 + 1 1772 c.1116A>G c.(1114-1116)gcA>gcG p.A372A JRKL_ENST00000546177.1_Intron|JRKL_ENST00000332349.4_Silent_p.A372A NM_003772.3 NP_003763.2 Q9Y4A0 JERKL_HUMAN jerky homolog-like (mouse) 372 DDE. central nervous system development|regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) BRCA - Breast invasive adenocarcinoma(274;0.148) TAGCAATGGCATGGAACTTAG 0.408000 3 134 0 0 1 0 0 GLG1 2734 broad.mit.edu 37 16 74493622 74493622 + Silent SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:74493622G>C ENST00000422840.2 - 23 3101 c.3102C>G c.(3100-3102)ctC>ctG p.L1034L GLG1_ENST00000447066.2_Silent_p.L1023L|GLG1_ENST00000205061.5_Silent_p.L1034L NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 1034 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 GGTTGACCTTGAGGCACTCCT 0.438000 12 22 0 0 1 0 0 MUC20 200958 broad.mit.edu 37 3 195451911 195451911 + Missense_Mutation SNP A A C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:195451911A>C ENST00000320736.6 + 2 563 c.437A>C c.(436-438)gAt>gCt p.D146A MUC20_ENST00000436408.1_Missense_Mutation_p.D146A|MUC20_ENST00000447234.2_Missense_Mutation_p.D146A|MUC20_ENST00000445522.2_Missense_Mutation_p.D111A Q8N307 MUC20_HUMAN mucin 20, cell surface associated 327 Missing. protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) CTTTGCACCGATGACAGCTCT 0.557000 17 343 0 0 1 0 0 UPF1 5976 broad.mit.edu 37 19 18943112 18943112 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:18943112G>C ENST00000262803.5 + 1 366 c.94G>C c.(94-96)Gag>Cag p.E32Q UPF1_ENST00000599848.1_Missense_Mutation_p.E32Q NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 32 Sufficient for interaction with RENT2. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 ACAGGGCTCCGAGTTCGAGTT 0.721000 30 35 0 0 1 0 0 SYCP2L 221711 broad.mit.edu 37 6 10912908 10912908 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:10912908G>A ENST00000283141.6 + 13 1217 c.921G>A c.(919-921)atG>atA p.M307I SYCP2L_ENST00000543878.1_Missense_Mutation_p.M148I|RP11-637O19.3_ENST00000480294.1_3'UTR NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 307 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) TCTTACAGATGAGAAAACCAG 0.343000 12 51 0 0 1 0 0 PROCA1 147011 broad.mit.edu 37 17 27030629 27030629 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:27030629T>C ENST00000301039.2 - 4 1151 c.958A>G c.(958-960)Agg>Ggg p.R320G PROCA1_ENST00000439862.3_Missense_Mutation_p.R322G NM_152465.1 NP_689678.1 Q8NCQ7 PRCA1_HUMAN protein interacting with cyclin A1 348 E -> K (in dbSNP:rs3744637). lipid catabolic process calcium ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) TTTACCTTCCTGGCTTGTGAG 0.532000 58 101 0 0 1 0 0 VGLL3 389136 broad.mit.edu 37 3 87018080 87018080 + Silent SNP A A G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:87018080A>G ENST00000398399.2 - 3 960 c.597T>C c.(595-597)ccT>ccC p.P199P VGLL3_ENST00000383698.3_Silent_p.P199P NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 199 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) CAGCAGGGGGAGGGGCTGGGC 0.587000 3 153 0 0 1 0 0 DPP3 10072 broad.mit.edu 37 11 66272178 66272178 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:66272178C>T ENST00000532677.1 + 17 2432 c.2031C>T c.(2029-2031)ctC>ctT p.L677L DPP3_ENST00000541961.1_Silent_p.L658L|DPP3_ENST00000360510.2_Silent_p.L658L|DPP3_ENST00000531863.1_Silent_p.L678L|DPP3_ENST00000453114.1_Silent_p.L658L|DPP3_ENST00000530165.1_Silent_p.L628L NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 658 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 TCCTCACCCTCAGGGACACGG 0.597000 24 91 0 0 1 0 0 MRM1 79922 broad.mit.edu 37 17 34958561 34958561 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:34958561G>A ENST00000250156.7 + 1 561 c.322G>A c.(322-324)Gac>Aac p.D108N MRM1_ENST00000585770.1_5'UTR NM_024864.3 NP_079140.2 Q6IN84 MRM1_HUMAN mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) 108 RNA processing mitochondrion RNA binding|RNA methyltransferase activity NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) GCAGAAACTGGACACAATGTG 0.697000 22 29 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 3 59 0 0 1 0 0 CABP2 51475 broad.mit.edu 37 11 67287568 67287568 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:67287568G>C ENST00000294288.4 - 5 512 c.443C>G c.(442-444)aCg>aGg p.T148R CABP2_ENST00000353903.5_Missense_Mutation_p.T91R NM_016366.2 NP_057450.2 Q9NPB3 CABP2_HUMAN calcium binding protein 2 148 signal transduction Golgi apparatus|perinuclear region of cytoplasm|plasma membrane calcium ion binding endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 9 CATGTCTGCCGTCTCTGCCAG 0.657000 16 68 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108236064 108236064 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:108236064G>C ENST00000278616.4 + 63 9385 c.9000G>C c.(8998-9000)caG>caC p.Q3000H C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000452508.2_Missense_Mutation_p.Q3000H|C11orf65_ENST00000525729.1_Intron NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 3000 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|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 complex binding|protein dimerization activity|protein N-terminus binding 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) ATATTGACCAGAGTTTCAACA 0.403000 """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) 15 60 0 0 1 0 0 ZNF492 57615 broad.mit.edu 37 19 22847709 22847709 + Missense_Mutation SNP T T A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:22847709T>A ENST00000456783.2 + 4 1482 c.1238T>A c.(1237-1239)aTa>aAa p.I413K NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) ACACATAAGATAATTCATACT 0.368000 31 56 0 0 1 0 0 IFNAR1 3454 broad.mit.edu 37 21 34717650 34717650 + Nonsense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:34717650C>T ENST00000270139.3 + 6 924 c.772C>T c.(772-774)Caa>Taa p.Q258* IFNAR1_ENST00000416947.2_Nonsense_Mutation_p.Q189*|IFNAR1_ENST00000442357.2_Nonsense_Mutation_p.Q258* NM_000629.2 NP_000620.2 P17181 INAR1_HUMAN interferon (alpha, beta and omega) receptor 1 258 Fibronectin type-III 2. JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway integral to plasma membrane type I interferon receptor activity breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2) 14 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) CATGACCTTTCAAGTTCAGTG 0.378000 9 30 0 0 1 0 0 OSBP2 23762 broad.mit.edu 37 22 31289875 31289875 + Missense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr22:31289875G>T ENST00000332585.6 + 12 2366 c.2262G>T c.(2260-2262)atG>atT p.M754I OSBP2_ENST00000382310.3_Missense_Mutation_p.M705I|OSBP2_ENST00000401475.1_Missense_Mutation_p.M387I|OSBP2_ENST00000407373.1_Missense_Mutation_p.M581I|OSBP2_ENST00000446658.2_Missense_Mutation_p.M753I|OSBP2_ENST00000496575.1_3'UTR|OSBP2_ENST00000403222.3_Missense_Mutation_p.M588I|OSBP2_ENST00000437268.2_Missense_Mutation_p.M496I|OSBP2_ENST00000535268.1_Missense_Mutation_p.M298I NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3 NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 754 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 ATGAACAAATGGAGTGCTCCA 0.582000 6 2 0.0293803 0.0297117 1 1 0 CACNA1C 775 broad.mit.edu 37 12 2788756 2788756 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:2788756G>A ENST00000399655.1 + 42 5503 c.5238G>A c.(5236-5238)gaG>gaA p.E1746E CACNA1C_ENST00000399621.1_Silent_p.E1765E|CACNA1C_ENST00000335762.5_Silent_p.E1771E|CACNA1C_ENST00000399597.1_Silent_p.E1746E|CACNA1C_ENST00000406454.3_Silent_p.E1746E|CACNA1C_ENST00000347598.4_Silent_p.E1794E|CACNA1C_ENST00000399617.1_Silent_p.E1746E|CACNA1C_ENST00000402845.3_Silent_p.E1765E|CACNA1C_ENST00000399649.1_Silent_p.E1752E|CACNA1C_ENST00000399637.1_Silent_p.E1765E|CACNA1C_ENST00000399638.1_Silent_p.E1774E|CACNA1C_ENST00000399603.1_Silent_p.E1746E|CACNA1C_ENST00000399629.1_Silent_p.E1763E|CACNA1C_ENST00000399595.1_Silent_p.E1754E|CACNA1C_ENST00000327702.7_Silent_p.E1746E|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000344100.3_Silent_p.E1787E|CACNA1C_ENST00000399634.1_Silent_p.E1746E|CACNA1C_ENST00000399601.1_Silent_p.E1746E|CACNA1C_ENST00000399606.1_Silent_p.E1766E|CACNA1C_ENST00000399644.1_Silent_p.E1746E|CACNA1C_ENST00000399641.1_Silent_p.E1746E|CACNA1C_ENST00000399591.1_Silent_p.E1754E NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1794 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CATCCCACGAGAAGCTGGTGG 0.657000 11 24 0 0 1 0 0 FOLR3 2352 broad.mit.edu 37 11 71850770 71850770 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:71850770G>C ENST00000445078.2 + 5 824 c.753G>C c.(751-753)caG>caC p.Q251H FOLR3_ENST00000442948.2_Missense_Mutation_p.Q210H|FOLR3_ENST00000456237.1_Missense_Mutation_p.Q253H P41439 FOLR3_HUMAN folate receptor 3 (gamma) 209 folic acid transport extracellular region|extrinsic to membrane|membrane fraction folic acid binding|receptor activity large_intestine(3)|lung(8)|prostate(2) 13 Folic Acid(DB00158) GCTGCATCCAGATGTGGTTTG 0.577000 11 51 0 0 1 0 0 AUP1 550 broad.mit.edu 37 2 74754468 74754468 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:74754468C>G ENST00000377526.3 - 10 1293 c.984G>C c.(982-984)ttG>ttC p.L328F NM_181575.3 NP_853553.1 Q9Y679 AUP1_HUMAN ancient ubiquitous protein 1 394 endoplasmic reticulum membrane|integral to membrane|nucleus protein binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 11 TAGTGATAGTCAAGTCTACAC 0.527000 11 27 0 0 1 0 0 CFLAR 8837 broad.mit.edu 37 2 202025318 202025318 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:202025318G>A ENST00000309955.3 + 9 1472 c.957G>A c.(955-957)caG>caA p.Q319Q CFLAR_ENST00000341582.6_Silent_p.Q284Q|CFLAR_ENST00000479953.2_Silent_p.Q223Q|CFLAR_ENST00000443227.1_Silent_p.Q223Q|CFLAR_ENST00000457277.1_Silent_p.Q319Q|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000423241.2_Silent_p.Q319Q|CFLAR_ENST00000340870.5_Silent_p.Q319Q NM_001202515.1|NM_003879.5 NP_001189444.1|NP_003870.4 O15519 CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1) 13 GAGGCTCCCAGAGTGTGTATG 0.537000 42 76 0 0 1 0 0 TBXAS1 6916 broad.mit.edu 37 7 139661804 139661804 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:139661804C>T ENST00000263552.6 + 13 1447 c.909C>T c.(907-909)gaC>gaT p.D303D TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000416849.2_Silent_p.D349D|TBXAS1_ENST00000448866.1_Silent_p.D302D|TBXAS1_ENST00000414508.2_Silent_p.D303D|TBXAS1_ENST00000411653.1_Silent_p.D302D|TBXAS1_ENST00000458722.1_Silent_p.D348D|TBXAS1_ENST00000436047.2_Silent_p.D303D|TBXAS1_ENST00000425687.1_Silent_p.D235D|TBXAS1_ENST00000336425.5_Silent_p.D302D NM_001130966.2 NP_001124438 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 302 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) TCGTCAGAGACGTTTTCTCCT 0.562000 23 29 0 0 1 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33408987 33408987 + Nonsense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:33408987G>T ENST00000418600.2 + 12 2052 c.1951G>T c.(1951-1953)Gag>Tag p.E651* SYNGAP1_ENST00000293748.5_Nonsense_Mutation_p.E651*|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Nonsense_Mutation_p.E592* NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 651 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 CTTCATGAATGAGTTTCTGGA 0.453000 45 32 2.18419e-29 2.40306e-29 1 1 0 MRPL13 28998 broad.mit.edu 37 8 121426333 121426333 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr8:121426333G>C ENST00000306185.3 - 6 703 c.412C>G c.(412-414)Ctt>Gtt p.L138V NM_014078.5 NP_054797.2 Q9BYD1 RM13_HUMAN mitochondrial ribosomal protein L13 138 translation mitochondrial large ribosomal subunit protein binding|structural constituent of ribosome central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 6 Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) AAATTCTTAAGAATATCTTCT 0.294000 4 15 0 0 1 0 0 SMC6 79677 broad.mit.edu 37 2 17877556 17877556 + Splice_Site SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:17877556C>G ENST00000448223.2 - 22 2801 c.2532G>C c.(2530-2532)gaG>gaC p.E844D SMC6_ENST00000351948.4_Splice_Site_p.E844D|SMC6_ENST00000381272.4_Splice_Site_p.E870D|SMC6_ENST00000402989.1_Splice_Site_p.E844D NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 844 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GGTGAAAAACCTCTAGTTCTT 0.303000 9 19 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24802435 24802435 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:24802435G>C ENST00000395799.3 + 6 2601 c.2472G>C c.(2470-2472)gaG>gaC p.E824D TNRC6A_ENST00000315183.7_Missense_Mutation_p.E824D NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 824 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) ATTGCAAAGAGGAGAAGGCTG 0.507000 15 20 0 0 1 0 0 SEMA6D 80031 broad.mit.edu 37 15 48056959 48056959 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:48056959G>A ENST00000316364.5 + 12 1661 c.1222G>A c.(1222-1224)Gat>Aat p.D408N SEMA6D_ENST00000558014.1_Missense_Mutation_p.D408N|SEMA6D_ENST00000389433.2_Missense_Mutation_p.D408N|SEMA6D_ENST00000537942.1_Missense_Mutation_p.D408N|SEMA6D_ENST00000389428.3_Missense_Mutation_p.D408N|SEMA6D_ENST00000358066.4_Missense_Mutation_p.D408N|SEMA6D_ENST00000536845.2_Missense_Mutation_p.D408N|SEMA6D_ENST00000389432.2_Missense_Mutation_p.D408N|SEMA6D_ENST00000355997.3_Missense_Mutation_p.D408N|SEMA6D_ENST00000389425.3_Missense_Mutation_p.D408N|SEMA6D_ENST00000558816.1_Missense_Mutation_p.D408N|SEMA6D_ENST00000354744.4_Missense_Mutation_p.D408N NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 408 Sema. axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) ACCCATTGCCGATGAGCCCTG 0.502000 4 52 0 0 1 0 0 OR2B6 26212 broad.mit.edu 37 6 27925844 27925844 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:27925844C>T ENST00000244623.1 + 1 826 c.826C>T c.(826-828)Ctc>Ttc p.L276F NM_012367.1 NP_036499.1 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, member 6 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GATGGTTTCTCTCTTCTATGG 0.438000 14 67 0 0 1 0 0 FEM1A 55527 broad.mit.edu 37 19 4793724 4793724 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:4793724C>A ENST00000269856.3 + 1 1997 c.1858C>A c.(1858-1860)Ctg>Atg p.L620M AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 620 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity p.L620M(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GGCCTACGAGCTGCTGGACGA 0.607000 4 48 1 1 1 1 0 BCDIN3D 144233 broad.mit.edu 37 12 50232586 50232586 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:50232586G>A ENST00000333924.4 - 2 488 c.447C>T c.(445-447)ttC>ttT p.F149F BCDIN3D-AS1_ENST00000549124.1_RNA|BCDIN3D-AS1_ENST00000548872.1_RNA NM_181708.2 NP_859059.1 Q7Z5W3 BN3D2_HUMAN BCDIN3 domain containing 149 Bin3-type SAM. methyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1) 9 ATTGGCTTAAGAAAGAGCTCA 0.443000 OREG0021805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 47 0 0 1 0 0 CRB3 92359 broad.mit.edu 37 19 6466563 6466563 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:6466563G>A ENST00000598494.1 + 4 774 c.243G>A c.(241-243)cgG>cgA p.R81R CRB3_ENST00000308243.7_Silent_p.R81R|CRB3_ENST00000600229.1_Silent_p.R81R|CRB3_ENST00000356762.3_Silent_p.R81R Q9BUF7 CRUM3_HUMAN crumbs homolog 3 (Drosophila) 81 protein localization in plasma membrane|tight junction assembly apical plasma membrane|integral to membrane|tight junction SH3 domain binding endometrium(1)|large_intestine(1)|lung(1) 3 TGTTGGTGCGGAAGCTTCGGG 0.652000 83 98 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187226 12187226 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:12187226C>T ENST00000439326.3 + 4 1466 c.1291C>T c.(1291-1293)Ctt>Ttt p.L431F ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 431 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GCCTTCATTTCTTCCACTTCC 0.433000 3 61 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44684813 44684813 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:44684813C>G ENST00000243964.3 + 22 2910 c.2812C>G c.(2812-2814)Cga>Gga p.R938G SLC12A5_ENST00000454036.2_Missense_Mutation_p.R961G NM_020708.4 NP_065759.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 961 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) AGATGAGTCACGAGGCTCAAT 0.562000 13 31 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40317638 40317638 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:40317638G>A ENST00000264661.3 - 11 2246 c.1914C>T c.(1912-1914)ttC>ttT p.F638F KCNH4_ENST00000607371.1_Silent_p.F638F NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 638 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) TCTTTAGCACGAAGTTTGGGT 0.592000 23 38 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38080973 38080973 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:38080973C>T ENST00000308059.6 + 1 278 c.257C>T c.(256-258)tCg>tTg p.S86L DLEC1_ENST00000452631.2_Missense_Mutation_p.S86L|DLEC1_ENST00000346219.3_Missense_Mutation_p.S86L Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 86 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) CGCCCCTCCTCGCTGCGCACC 0.652000 26 64 0 0 1 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39909624 39909624 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:39909624C>G ENST00000425673.1 + 11 1569 c.1244C>G c.(1243-1245)cCt>cGt p.P415R PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P415R|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P356R|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.P415R|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.P415R Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 415 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GAGAACCACCCTGCCTCCATC 0.602000 13 82 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197072567 197072567 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:197072567C>T ENST00000367409.4 - 18 6070 c.5814G>A c.(5812-5814)agG>agA p.R1938R ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1938 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TACATTGCTTCCTTCCTGCAG 0.423000 59 158 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52417423 52417423 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:52417423G>A ENST00000420323.2 + 51 8224 c.7963G>A c.(7963-7965)Gaa>Aaa p.E2655K NM_015512.4 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2655 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ATCCTTCCTGGAAGATATCAA 0.522000 27 46 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103487275 103487275 + Silent SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:103487275T>C ENST00000358392.2 - 9 1649 c.1332A>G c.(1330-1332)gcA>gcG p.A444A COL11A1_ENST00000512756.1_Silent_p.A316A|COL11A1_ENST00000353414.4_Silent_p.A393A|COL11A1_ENST00000370096.3_Silent_p.A432A NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 432 Triple-helical region (interrupted). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GCTCAACCACTGCTGGTTCTC 0.358000 26 35 0 0 1 0 0 FOXD4 2298 broad.mit.edu 37 9 117910 117910 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:117910G>A ENST00000382500.2 - 1 507 c.210C>T c.(208-210)atC>atT p.I70I NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 70 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CGCCGCCCTCGATGTGCTCTC 0.716000 15 135 0 0 1 0 0 MTERFD1 51001 broad.mit.edu 37 8 97269316 97269316 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr8:97269316G>C ENST00000523821.1 - 3 480 c.361C>G c.(361-363)Cca>Gca p.P121A MTERFD1_ENST00000287025.3_Missense_Mutation_p.P121A|MTERFD1_ENST00000522822.1_5'UTR Q96E29 MTER1_HUMAN MTERF domain containing 1 121 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion transcription regulatory region DNA binding endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 24 Breast(36;5.16e-05) GGCTGCATTGGAGACAATGGA 0.418000 27 134 0 0 1 0 0 FIGNL1 63979 broad.mit.edu 37 7 50513083 50513083 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:50513083G>C ENST00000419119.1 - 2 3456 c.1903C>G c.(1903-1905)Caa>Gaa p.Q635E FIGNL1_ENST00000356889.4_Missense_Mutation_p.Q635E|FIGNL1_ENST00000395556.2_Missense_Mutation_p.Q635E|FIGNL1_ENST00000433017.1_Missense_Mutation_p.Q635E Q6PIW4 FIGL1_HUMAN fidgetin-like 1 635 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 29 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) GGTCGAACTTGATCCGGTGTT 0.418000 16 39 0 0 1 0 0 USP4 7375 broad.mit.edu 37 3 49372916 49372916 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:49372916G>A ENST00000351842.4 - 2 223 c.215C>T c.(214-216)tCt>tTt p.S72F USP4_ENST00000416417.1_Missense_Mutation_p.S72F|USP4_ENST00000265560.4_Missense_Mutation_p.S72F|USP4_ENST00000415188.1_Missense_Mutation_p.S72F NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 72 DUSP. negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) AAATAGCCCAGAGTTGTCTAT 0.453000 45 59 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47277133 47277133 + Missense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:47277133G>T ENST00000319190.5 + 17 2333 c.1965G>T c.(1963-1965)aaG>aaT p.K655N TTC7A_ENST00000409245.1_Missense_Mutation_p.K621N|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Missense_Mutation_p.K679N|TTC7A_ENST00000263737.6_Missense_Mutation_p.K301N NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 655 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) TCACCATGAAGAAGCAGAGTG 0.572000 12 34 3.41278e-10 3.6358e-10 1 1 0 OR4C3 256144 broad.mit.edu 37 11 48346641 48346641 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:48346641G>C ENST00000319856.4 + 1 170 c.149G>C c.(148-150)aGa>aCa p.R50T NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 GAGGTACAGAGAGTTCTCTTT 0.478000 32 52 0 0 1 0 0 CNNM2 54805 broad.mit.edu 37 10 104679843 104679843 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:104679843G>C ENST00000369878.4 + 1 1794 c.1606G>C c.(1606-1608)Gaa>Caa p.E536Q CNNM2_ENST00000369875.3_Missense_Mutation_p.E536Q|CNNM2_ENST00000433628.2_Missense_Mutation_p.E536Q NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 CBS 2. ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CGCTATGCTGGAAGAATTTAA 0.463000 27 94 0 0 1 0 0 FOSL1 8061 broad.mit.edu 37 11 65664326 65664326 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:65664326C>A ENST00000312562.2 - 2 437 c.251G>T c.(250-252)cGg>cTg p.R84L FOSL1_ENST00000532401.1_Missense_Mutation_p.R84L|FOSL1_ENST00000531493.1_Missense_Mutation_p.R84L|FOSL1_ENST00000448083.2_Intron NM_005438.3 NP_005429.1 P15407 FOSL1_HUMAN FOS-like antigen 1 84 cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 10 READ - Rectum adenocarcinoma(159;0.168) CCCCAGGGCCCGGATGACTCC 0.647000 22 64 4.7796e-09 5.04201e-09 1 1 0 HSPA12A 259217 broad.mit.edu 37 10 118434641 118434641 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:118434641C>A ENST00000369209.3 - 12 1783 c.1679G>T c.(1678-1680)gGc>gTc p.G560V NM_025015.2 NP_079291.2 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 560 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) CCACCGAGTGCCATCCTTCAC 0.632000 3 34 0.115264 0.11591 1 1 0 MDM4 4194 broad.mit.edu 37 1 204501325 204501325 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:204501325C>G ENST00000367182.3 + 5 456 c.294C>G c.(292-294)ctC>ctG p.L98L MDM4_ENST00000507825.2_Silent_p.L98L|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000367180.1_Silent_p.L98L|MDM4_ENST00000391947.2_Silent_p.L98L|MDM4_ENST00000454264.2_Silent_p.L98L NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4 NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2 O15151 MDM4_HUMAN Mdm4 p53 binding protein homolog (mouse) 98 SWIB. apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization nucleus enzyme binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143) ACAGCCCTCTCTATGATATGC 0.358000 A """GBM, bladder, retinoblastoma""" 16 38 0 0 1 0 0 SMARCE1 6605 broad.mit.edu 37 17 38787930 38787930 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:38787930C>G ENST00000348513.6 - 9 1510 c.730G>C c.(730-732)Gaa>Caa p.E244Q SMARCE1_ENST00000377808.4_Missense_Mutation_p.E209Q|SMARCE1_ENST00000578044.1_Missense_Mutation_p.E174Q|SMARCE1_ENST00000544009.1_Missense_Mutation_p.E174Q|SMARCE1_ENST00000400122.3_Missense_Mutation_p.E174Q|SMARCE1_ENST00000580419.1_Missense_Mutation_p.E209Q|SMARCE1_ENST00000431889.2_Missense_Mutation_p.E226Q|KRT222_ENST00000476049.1_3'UTR NM_003079.4 NP_003070.3 Q969G3 SMCE1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 244 chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity large_intestine(1) 1 Breast(137;0.000812) TGAAGAAGTTCAGCTTCTAGT 0.353000 20 38 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40317544 40317544 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:40317544G>A ENST00000264661.3 - 11 2340 c.2008C>T c.(2008-2010)Cct>Tct p.P670S KCNH4_ENST00000607371.1_Missense_Mutation_p.P670S NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 670 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CCATACTCAGGATAGAGCCTC 0.607000 11 41 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129899669 129899669 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:129899669C>T ENST00000368654.3 - 14 9933 c.9558G>A c.(9556-9558)caG>caA p.Q3186Q MKI67_ENST00000368653.3_Silent_p.Q2826Q NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 3186 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CTTTCCCTTTCTGATTCTGCA 0.507000 30 73 0 0 1 0 0 MKNK2 2872 broad.mit.edu 37 19 2042510 2042510 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:2042510C>T ENST00000250896.3 - 10 910 c.666G>A c.(664-666)gtG>gtA p.V222V MKNK2_ENST00000541165.1_Silent_p.V91V|MKNK2_ENST00000591601.1_Silent_p.V222V|MKNK2_ENST00000588014.1_5'UTR|MKNK2_ENST00000309340.7_Silent_p.V222V NM_199054.2 NP_951009.1 Q9HBH9 MKNK2_HUMAN MAP kinase interacting serine/threonine kinase 2 222 Protein kinase. cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation ATP binding|metal ion binding|protein serine/threonine kinase activity breast(1)|kidney(3)|large_intestine(3)|lung(3) 10 Ovarian(11;2.11e-07)|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) CACAGATCTTCACGGGGGAGA 0.692000 3 3 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858060 9858060 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:9858060C>G ENST00000396573.2 - 14 3650 c.3341G>C c.(3340-3342)aGa>aCa p.R1114T GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1114T|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R957T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1114T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1114T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1114T NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1114 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GATCTTGTCTCTAGGGGAGCT 0.483000 31 158 0 0 1 0 0 PARP2 10038 broad.mit.edu 37 14 20824776 20824776 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:20824776G>A ENST00000527915.1 + 13 1301 c.1296G>A c.(1294-1296)atG>atA p.M432I PARP2_ENST00000429687.3_Missense_Mutation_p.M419I|PARP2_ENST00000250416.5_Missense_Mutation_p.M432I Q9UGN5 PARP2_HUMAN poly (ADP-ribose) polymerase 2 432 PARP catalytic. protein ADP-ribosylation nucleolus|nucleoplasm DNA binding|NAD+ ADP-ribosyltransferase activity central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 15 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;5.34e-07)|all cancers(55;3.7e-06) GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649) GTTCCAGGATGAGTAACTGGG 0.468000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 57 185 0 0 1 0 0 ITGBL1 9358 broad.mit.edu 37 13 102359164 102359164 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr13:102359164C>G ENST00000376180.3 + 9 1410 c.1191C>G c.(1189-1191)ctC>ctG p.L397L ITGBL1_ENST00000376162.3_Silent_p.L304L|ITGBL1_ENST00000545560.2_Silent_p.L256L NM_001271756.1|NM_004791.1 NP_001258685.1|NP_004782.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) 397 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTGGAAAGCTCTGCCAACATC 0.498000 7 54 0 0 1 0 0 NBEAL1 65065 broad.mit.edu 37 2 204016211 204016211 + Missense_Mutation SNP A A T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:204016211A>T ENST00000449802.1 + 34 5732 c.5399A>T c.(5398-5400)aAg>aTg p.K1800M NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 1800 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 ATTCACTGGAAGCTAGCTAAT 0.313000 8 41 0 0 1 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48599420 48599420 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:48599420G>A ENST00000323776.5 + 10 1526 c.1364G>A c.(1363-1365)aGa>aAa p.R455K MYCBPAP_ENST00000436259.2_Missense_Mutation_p.R418K NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 418 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) TGCTGGATCAGAGGCAGTAAT 0.562000 33 23 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10906963 10906963 + Missense_Mutation SNP A A T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:10906963A>T ENST00000298232.7 - 23 1911 c.1544T>A c.(1543-1545)gTg>gAg p.V515E TPTE_ENST00000361285.4_Missense_Mutation_p.V533E|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.V495E NM_199259.2 NP_954868 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 533 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAGTATCTCCACGGCAAAATC 0.353000 11 85 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78515755 78515755 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:78515755C>G ENST00000397909.2 + 16 3958 c.3785C>G c.(3784-3786)tCt>tGt p.S1262C NAV3_ENST00000536525.2_Missense_Mutation_p.S1262C|NAV3_ENST00000228327.6_Missense_Mutation_p.S1262C|NAV3_ENST00000266692.7_Intron Q8IVL0 NAV3_HUMAN neuron navigator 3 1262 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 AAATCTGCCTCTGCACCTAAT 0.463000 HNSCC(70;0.22) 12 35 0 0 1 0 0 ZNF689 115509 broad.mit.edu 37 16 30616102 30616102 + Missense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:30616102G>T ENST00000287461.3 - 3 1323 c.986C>A c.(985-987)tCc>tAc p.S329Y RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR NM_138447.1 NP_612456.1 Q96CS4 ZN689_HUMAN zinc finger protein 689 329 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1) 14 Colorectal(24;0.198) CAGGCGAGAGGAGGAGGAGAA 0.701000 6 49 1.58986e-06 1.65125e-06 1 1 0 GCKR 2646 broad.mit.edu 37 2 27726416 27726416 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:27726416G>A ENST00000264717.2 + 9 743 c.680G>A c.(679-681)cGa>cAa p.R227Q GCKR_ENST00000424318.2_Missense_Mutation_p.R37Q NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 227 SIS 1. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) TCAACATTCCGACAAGTAGCA 0.488000 3 63 0 0 1 0 0 SEC24A 10802 broad.mit.edu 37 5 134044472 134044472 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:134044472C>G ENST00000398844.2 + 18 2909 c.2621C>G c.(2620-2622)tCc>tGc p.S874C NM_021982.2 NP_068817.1 O95486 SC24A_HUMAN SEC24 family member A 874 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTCATTGACTCCCTTTCAGCT 0.468000 33 46 0 0 1 0 0 NMD3 51068 broad.mit.edu 37 3 160968072 160968072 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:160968072G>A ENST00000460469.1 + 14 1794 c.1339G>A c.(1339-1341)Gaa>Aaa p.E447K NMD3_ENST00000472947.1_Missense_Mutation_p.E447K|NMD3_ENST00000351193.2_Missense_Mutation_p.E447K Q96D46 NMD3_HUMAN NMD3 ribosome export adaptor 447 Necessary for the nuclear export of the 60S ribosomal subunit. protein transport cytoplasm|nucleolus|nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2) 25 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) TGAAGATCTTGAAGAAGATGA 0.279000 16 30 0 0 1 0 0 FANCI 55215 broad.mit.edu 37 15 89850893 89850893 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:89850893C>G ENST00000310775.7 + 34 3727 c.3641C>G c.(3640-3642)tCt>tGt p.S1214C FANCI_ENST00000300027.8_Missense_Mutation_p.S1154C NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 1214 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) TCTTTCATTTCTTACGTACAG 0.443000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 23 73 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40400429 40400429 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:40400429C>T ENST00000338305.6 - 2 966 c.424G>A c.(424-426)Gag>Aag p.E142K NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 142 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) TCAAAAGCCTCATCTGCGATG 0.597000 33 34 0 0 1 0 0 FNBP4 23360 broad.mit.edu 37 11 47754150 47754150 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:47754150C>T ENST00000263773.5 - 11 1771 c.1759G>A c.(1759-1761)Gaa>Aaa p.E587K FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 587 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 TTTAGTTGTTCTGCTGCATCC 0.443000 28 63 0 0 1 0 0 FARP1 10160 broad.mit.edu 37 13 99047670 99047670 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr13:99047670G>A ENST00000376586.2 + 13 1690 c.1354G>A c.(1354-1356)Gag>Aag p.E452K FARP1_ENST00000319562.6_Missense_Mutation_p.E452K|FARP1_ENST00000595437.1_Missense_Mutation_p.E452K Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 452 Poly-Glu. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) GGAGGAAGAGGAGGAGGTCGT 0.687000 15 22 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31611068 31611068 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:31611068C>T ENST00000399332.1 - 18 3357 c.2869G>A c.(2869-2871)Gaa>Aaa p.E957K HECTD1_ENST00000553700.1_Missense_Mutation_p.E957K NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 957 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TTTTACCTTTCATCATCTTCA 0.294000 6 10 0 0 1 0 0 MYH10 4628 broad.mit.edu 37 17 8422065 8422065 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:8422065C>G ENST00000360416.3 - 21 2526 c.2388G>C c.(2386-2388)caG>caC p.Q796H MYH10_ENST00000396239.1_Missense_Mutation_p.Q786H|MYH10_ENST00000269243.4_Missense_Mutation_p.Q765H|MYH10_ENST00000379980.4_Missense_Mutation_p.Q781H NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 765 IQ. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 ATATCTTGCTCTGTCCAATTC 0.358000 22 21 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117306394 117306394 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:117306394C>T ENST00000321322.6 - 27 5023 c.5022G>A c.(5020-5022)aaG>aaA p.K1674K DSCAML1_ENST00000527706.1_Silent_p.K1404K NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1614 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CCTTCCTCTTCTTGCGTACGA 0.597000 21 54 0 0 1 0 0 VEGFB 7423 broad.mit.edu 37 11 64002948 64002948 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:64002948G>A ENST00000309422.2 + 2 375 c.79G>A c.(79-81)Gat>Aat p.D27N VEGFB_ENST00000426086.2_Missense_Mutation_p.D27N NM_001243733.1|NM_003377.4 NP_001230662.1|NP_003368.1 P49765 VEGFB_HUMAN vascular endothelial growth factor B 27 anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway extracellular region|extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding endometrium(2)|large_intestine(2)|prostate(1)|stomach(1) 6 CTCCCAGCCTGATGCCCCTGG 0.562000 23 49 0 0 1 0 0 CYP1A2 1544 broad.mit.edu 37 15 75042806 75042806 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:75042806C>G ENST00000343932.4 + 2 790 c.727C>G c.(727-729)Cgc>Ggc p.R243G NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 243 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) CCCCATCCTTCGCTACCTGCC 0.557000 43 65 0 0 1 0 0 RPAIN 84268 broad.mit.edu 37 17 5324736 5324736 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:5324736G>A ENST00000381209.3 + 2 772 c.202G>A c.(202-204)Gag>Aag p.E68K RPAIN_ENST00000381208.5_Missense_Mutation_p.E68K|RPAIN_ENST00000574003.1_Missense_Mutation_p.E68K|RPAIN_ENST00000536255.2_Missense_Mutation_p.E68K|RPAIN_ENST00000327154.6_Missense_Mutation_p.E68K|RPAIN_ENST00000405578.4_Missense_Mutation_p.E68K NM_001033002.3 NP_001028174.2 Q86UA6 RIP_HUMAN RPA interacting protein 68 DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV cytoplasm|nucleolus|PML body metal ion binding|protein complex binding breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1) 6 GATGGAAGAAGAGTGGAATGC 0.532000 31 21 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76814231 76814231 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chrX:76814231G>A ENST00000373344.5 - 29 6627 c.6413C>T c.(6412-6414)tCt>tTt p.S2138F ATRX_ENST00000395603.3_Missense_Mutation_p.S2100F|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.3 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2138 Helicase C-terminal. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TGGATTCCAAGAAGCGTCGAA 0.348000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 47 22 0 0 1 0 0 SULT1C4 27233 broad.mit.edu 37 2 108994856 108994856 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:108994856C>T ENST00000272452.2 + 1 389 c.63C>T c.(61-63)taC>taT p.Y21Y SULT1C4_ENST00000409309.3_Silent_p.Y21Y NM_006588.2 NP_006579.2 O75897 ST1C4_HUMAN sulfotransferase family, cytosolic, 1C, member 4 21 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol sulfotransferase activity endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 GTGTCAACTACGTGAAGGGAA 0.438000 61 133 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152129435 152129435 + Splice_Site SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:152129435C>T ENST00000316073.3 - 3 204 c.140G>A c.(139-141)aGa>aAa p.R47K NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 47 EF-hand 1.|S-100-like (By similarity). proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 GTCATTTGGTCTCTGTTAGGA 0.433000 9 156 0 0 1 0 0 TFAP4 7023 broad.mit.edu 37 16 4310208 4310208 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:4310208C>T ENST00000204517.6 - 6 1033 c.705G>A c.(703-705)gtG>gtA p.V235V NM_003223.2 NP_003214.1 Q01664 TFAP4_HUMAN transcription factor AP-4 (activating enhancer binding protein 4) 235 Pro-rich. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle transcriptional repressor complex E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 CTGGCACGATCACCGTGGGGT 0.617000 11 20 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544867 23544867 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:23544867T>C ENST00000300619.7 - 4 1119 c.914A>G c.(913-915)cAt>cGt p.H305R ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 305 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAATGGCTAAAAGC 0.413000 9 158 0 0 1 0 0 SARDH 1757 broad.mit.edu 37 9 136555522 136555522 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:136555522G>A ENST00000371872.4 - 16 2306 c.2049C>T c.(2047-2049)atC>atT p.I683I SARDH_ENST00000371868.1_Silent_p.I111I|SARDH_ENST00000439388.1_Silent_p.I683I|SARDH_ENST00000422262.2_Silent_p.I515I NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 683 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) CCTGGATACTGATCATACCCA 0.652000 14 37 0 0 1 0 0 TRIM72 493829 broad.mit.edu 37 16 31226097 31226097 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:31226097C>G ENST00000322122.3 + 2 322 c.38C>G c.(37-39)tCc>tGc p.S13C NM_001008274.3 NP_001008275.2 Q6ZMU5 TRI72_HUMAN tripartite motif containing 72 13 exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization cytoplasmic vesicle membrane|sarcolemma phosphatidylserine binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1) 15 CAGGAGCTGTCCTGCCCGCTG 0.756000 8 15 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46914632 46914632 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:46914632G>A ENST00000378623.1 - 13 1831 c.1589C>T c.(1588-1590)tCa>tTa p.S530L NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 530 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) CGAGGTGCCTGAGTCGGTCCA 0.592000 8 33 0 0 1 0 0 ADGRG1 9289 broad.mit.edu 37 16 57693541 57693541 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:57693541C>G ENST00000562631.1 + 11 2035 c.1503C>G c.(1501-1503)gtC>gtG p.V501V GPR56_ENST00000388812.4_Silent_p.V507V|GPR56_ENST00000379694.4_Silent_p.V337V|GPR56_ENST00000388813.5_Silent_p.V501V|GPR56_ENST00000544297.1_Silent_p.V326V|GPR56_ENST00000540164.2_Silent_p.V501V|GPR56_ENST00000379696.3_Silent_p.V507V|GPR56_ENST00000568909.1_Silent_p.V507V|GPR56_ENST00000456916.1_Silent_p.V507V|GPR56_ENST00000562558.1_Silent_p.V501V|GPR56_ENST00000538815.1_Silent_p.V501V|GPR56_ENST00000567835.1_Silent_p.V507V|GPR56_ENST00000568908.1_Silent_p.V501V Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 507 brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 15 TGGTGGAGGTCTTTGGCACCT 0.627000 19 87 0 0 1 0 0 FAM161A 84140 broad.mit.edu 37 2 62066591 62066591 + Silent SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:62066591G>T ENST00000404929.1 - 3 1559 c.1548C>A c.(1546-1548)ccC>ccA p.P516P FAM161A_ENST00000405894.3_Silent_p.P516P NM_001201543.1 NP_001188472.1 Q3B820 F161A_HUMAN family with sequence similarity 161, member A 516 response to stimulus|visual perception centrosome breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AAGATACCGTGGGCACGGGAG 0.498000 30 82 1.57019e-19 1.70659e-19 1 1 0 HYAL1 3373 broad.mit.edu 37 3 50340340 50340340 + Silent SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:50340340G>T ENST00000266031.4 - 1 663 c.48C>A c.(46-48)ctC>ctA p.L16L HYAL1_ENST00000395143.2_Silent_p.L16L|HYAL1_ENST00000320295.8_Silent_p.L16L|HYAL1_ENST00000395144.2_Silent_p.L16L|HYAL1_ENST00000457214.2_Intron|HYAL1_ENST00000447605.2_Intron Q12794 HYAL1_HUMAN hyaluronoglucosaminidase 1 16 extracellular space|lysosome hyalurononglucosaminidase activity cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) Hyaluronidase(DB00070) GGGCCATATCGAGTAAGGTCA 0.627000 21 45 3.01185e-09 3.18345e-09 1 1 0 ZXDC 79364 broad.mit.edu 37 3 126185066 126185066 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:126185066C>G ENST00000389709.3 - 5 1426 c.1373G>C c.(1372-1374)tGc>tCc p.C458S ZXDC_ENST00000336332.5_Missense_Mutation_p.C458S NM_025112.4 NP_079388.3 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C 458 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) GAGTCTGTTGCAGGTAGAAAC 0.572000 20 43 0 0 1 0 0 ZKSCAN3 80317 broad.mit.edu 37 6 28333556 28333556 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:28333556G>A ENST00000377255.3 + 7 1408 c.1111G>A c.(1111-1113)Gag>Aag p.E371K ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.E371K|ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.E223K NM_001242894.1 NP_001229823.1 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 371 positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1) 21 GAAGCCATATGAGTGTGAAGA 0.493000 5 80 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10543493 10543493 + Missense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:10543493G>T ENST00000583535.1 - 22 2589 c.2502C>A c.(2500-2502)ttC>ttA p.F834L MYH3_ENST00000226209.7_Missense_Mutation_p.F834L NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 834 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TGATCTTGAAGAAGAGTTTCA 0.458000 29 31 2.85442e-18 3.09612e-18 1 1 0 SYPL1 6856 broad.mit.edu 37 7 105752622 105752622 + Silent SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:105752622G>C ENST00000455385.2 - 1 155 c.33C>G c.(31-33)ctC>ctG p.L11L SYPL1_ENST00000470347.1_Silent_p.L11L|SYPL1_ENST00000011473.2_Silent_p.L29L NM_182715.2 NP_874384.1 Q16563 SYPL1_HUMAN synaptophysin-like 1 29 synaptic transmission cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle transporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 7 GTGGCTCCTTGAGCGGGTTGA 0.687000 14 22 0 0 1 0 0 WDR83 84292 broad.mit.edu 37 19 12786441 12786441 + Missense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:12786441G>T ENST00000418543.3 + 11 1252 c.903G>T c.(901-903)caG>caT p.Q301H WDR83_ENST00000242796.4_Missense_Mutation_p.Q301H NM_001099737.2 NP_001093207.1 Q9BRX9 WDR83_HUMAN WD repeat domain 83 301 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|cytoplasm breast(2)|large_intestine(1)|lung(1) 4 GCAGCGTCCAGTGCTGGCGAG 0.647000 OREG0025272 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 14 5.4927e-09 5.78292e-09 1 1 0 ZNF251 90987 broad.mit.edu 37 8 145979132 145979132 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr8:145979132C>T ENST00000292562.7 - 4 488 c.213G>A c.(211-213)aaG>aaA p.K71K ZNF251_ENST00000524394.1_Intron NM_138367.1 NP_612376.1 Q9BRH9 ZN251_HUMAN zinc finger protein 251 71 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) CCCAAAGTTCCTTCCCCTGCT 0.552000 7 13 0 0 1 0 0 KRBA2 124751 broad.mit.edu 37 17 8272483 8272483 + Nonsense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:8272483G>C ENST00000396267.1 - 2 2033 c.1202C>G c.(1201-1203)tCa>tGa p.S401* RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000331336.2_Nonsense_Mutation_p.S483*|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR Q6ZNG9 KRBA2_HUMAN KRAB-A domain containing 2 483 Integrase catalytic. DNA integration|regulation of transcription, DNA-dependent intracellular DNA binding endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1) 18 AGTCCCTTGTGAGGTGCTGGG 0.527000 17 15 0 0 1 0 0 MSH5-SAPCD1 100532732 broad.mit.edu 37 6 31721100 31721100 + Missense_Mutation SNP C C T rs142533600 TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:31721100C>T ENST00000493662.2 + 11 942 c.886C>T c.(886-888)Cat>Tat p.H296Y MSH5_ENST00000534153.4_Missense_Mutation_p.H296Y|MSH5_ENST00000431848.2_5'UTR|MSH5_ENST00000375750.3_Missense_Mutation_p.H279Y|MSH5_ENST00000375742.3_Missense_Mutation_p.H296Y|MSH5_ENST00000375740.3_Missense_Mutation_p.H296Y|MSH5_ENST00000375755.3_Missense_Mutation_p.H279Y|MSH5_ENST00000375703.3_Missense_Mutation_p.H279Y ACGTCCGACTCATGACCTGGG 0.512000 104 73 0 0 1 0 0 MSANTD2 79684 broad.mit.edu 37 11 124637361 124637361 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:124637361T>C ENST00000526629.1 - 3 2148 c.701A>G c.(700-702)cAg>cGg p.Q234R MSANTD2_ENST00000374979.3_Missense_Mutation_p.Q464R|MSANTD2_ENST00000239614.4_Missense_Mutation_p.Q412R Q6P1R3 CK061_HUMAN Myb/SANT-like DNA-binding domain containing 2 464 TATTTCCACCTGTAATGAGGC 0.498000 3 134 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43821274 43821274 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:43821274G>A ENST00000382031.1 + 5 8348 c.8317G>A c.(8317-8319)Gaa>Aaa p.E2773K MAP1A_ENST00000399453.1_Missense_Mutation_p.E2535K|MAP1A_ENST00000300231.5_Missense_Mutation_p.E2535K P78559 MAP1A_HUMAN microtubule-associated protein 1A 2535 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CGACTCAGATGAAGATGGAGA 0.587000 37 160 0 0 1 0 0 ASNSD1 54529 broad.mit.edu 37 2 190531483 190531483 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:190531483G>A ENST00000260952.4 + 4 1038 c.625G>A c.(625-627)Gaa>Aaa p.E209K ASNSD1_ENST00000607062.1_Intron NM_019048.2 NP_061921 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 209 asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) GAATATTATTGAAGAAAATGT 0.338000 15 52 0 0 1 0 0 SYCP2L 221711 broad.mit.edu 37 6 10891745 10891745 + Splice_Site SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:10891745G>C ENST00000283141.6 + 2 305 c.e2-1 SYCP2L_ENST00000543878.1_Splice_Site|RP11-637O19.3_ENST00000480294.1_Splice_Site NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) ATTCCACACAGAAAAACAAAG 0.299000 5 57 0 0 1 0 0 TADA2A 6871 broad.mit.edu 37 17 35804849 35804849 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:35804849G>A ENST00000394395.2 + 8 756 c.583G>A c.(583-585)Gat>Aat p.D195N TADA2A_ENST00000586023.1_Missense_Mutation_p.D195N|TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000225396.6_Missense_Mutation_p.D195N|TADA2A_ENST00000417170.1_Missense_Mutation_p.D195N NM_001166105.1 NP_001159577.1 O75478 TAD2A_HUMAN transcriptional adaptor 2A 195 histone H3 acetylation|transcription from RNA polymerase II promoter chromosome|PCAF complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1) 13 TTTTGTTGAAGATGACTCGGA 0.403000 83 170 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27535438 27535438 + RNA SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:27535438C>T ENST00000574842.1 + 0 255 CACTCGACTTCTGCTCTTTCT 0.403000 19 40 0 0 1 0 0 OR2T6 254879 broad.mit.edu 37 1 248550938 248550938 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:248550938G>C ENST00000355728.2 + 1 29 c.29G>C c.(28-30)aGa>aCa p.R10T NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACCTTGACCAGAGGCTTTACC 0.408000 14 62 0 0 1 0 0 SYT14 255928 broad.mit.edu 37 1 210187104 210187104 + Nonsense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:210187104C>G ENST00000537238.1 + 4 465 c.74C>G c.(73-75)tCa>tGa p.S25* SYT14_ENST00000367019.1_Nonsense_Mutation_p.S63*|SYT14_ENST00000472886.1_Nonsense_Mutation_p.S63*|SYT14_ENST00000534859.1_Nonsense_Mutation_p.S63*|SYT14_ENST00000367015.1_Nonsense_Mutation_p.S25*|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000399639.2_Nonsense_Mutation_p.S63*|SYT14_ENST00000422431.1_Nonsense_Mutation_p.S108* NM_001256006.1|NM_153262.3 NP_001242935.1|NP_694994.2 Q8NB59 SYT14_HUMAN synaptotagmin XIV 63 integral to membrane endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3) 37 OV - Ovarian serous cystadenocarcinoma(81;0.085) GATCTTGGTTCAGAATACAGT 0.328000 14 68 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30672288 30672288 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:30672288C>A ENST00000376406.3 - 10 5319 c.4672G>T c.(4672-4674)Ggc>Tgc p.G1558C MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.G1294C NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1558 Interaction with the PRKDC complex. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 TTTGTCCTGCCCCTAGTGGCC 0.582000 Other conserved DNA damage response genes 5 201 0.000157383 0.000160061 1 1 0 ATM 472 broad.mit.edu 37 11 108236160 108236160 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:108236160G>A ENST00000278616.4 + 63 9481 c.9096G>A c.(9094-9096)gtG>gtA p.V3032V C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000452508.2_Silent_p.V3032V|C11orf65_ENST00000525729.1_Intron NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 3032 FATC. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|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 complex binding|protein dimerization activity|protein N-terminus binding 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) GTGGACAAGTGAATTTGCTCA 0.443000 """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) 12 41 0 0 1 0 0 SYPL1 6856 broad.mit.edu 37 7 105752610 105752610 + Silent SNP G G C rs147008337 byFrequency TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:105752610G>C ENST00000455385.2 - 1 167 c.45C>G c.(43-45)ctC>ctG p.L15L SYPL1_ENST00000470347.1_Silent_p.L15L|SYPL1_ENST00000011473.2_Silent_p.L33L NM_182715.2 NP_874384.1 Q16563 SYPL1_HUMAN synaptophysin-like 1 33 LGQRM -> HLQGR (in Ref. 5; X61382). synaptic transmission cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle transporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 7 TGATGAAGCCGAGTGGCTCCT 0.692000 12 21 0 0 1 0 0 C6orf10 10665 broad.mit.edu 37 6 32261066 32261066 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:32261066C>G ENST00000375015.4 - 26 1581 c.1381G>C c.(1381-1383)Gag>Cag p.E461Q C6orf10_ENST00000533191.1_Missense_Mutation_p.E460Q|C6orf10_ENST00000442822.2_Missense_Mutation_p.E453Q|C6orf10_ENST00000447241.2_Missense_Mutation_p.E462Q|C6orf10_ENST00000527965.1_Missense_Mutation_p.E446Q|C6orf10_ENST00000375007.4_Missense_Mutation_p.E460Q Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 462 integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 ACACTCACCTCAGTGTTCTTT 0.453000 10 233 0 0 1 0 0 C7orf63 79846 broad.mit.edu 37 7 89912334 89912334 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:89912334G>C ENST00000389297.4 + 13 1752 c.1501G>C c.(1501-1503)Gat>Cat p.D501H C7orf63_ENST00000497910.1_Missense_Mutation_p.D483H|C7orf63_ENST00000316089.8_Missense_Mutation_p.D501H NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 501 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 TGTAAACAAAGATCTTTGTGA 0.383000 17 28 0 0 1 0 0 ADC 113451 broad.mit.edu 37 1 33562402 33562402 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:33562402C>T ENST00000294517.6 + 9 1435 c.848C>T c.(847-849)tCg>tTg p.S283L ADC_ENST00000484656.1_3'UTR|ADC_ENST00000358680.3_Missense_Mutation_p.S125L|ADC_ENST00000398167.1_Missense_Mutation_p.S283L|ADC_ENST00000373440.1_Missense_Mutation_p.S125L|ADC_ENST00000373441.1_Missense_Mutation_p.S283L|ADC_ENST00000373443.3_Missense_Mutation_p.S283L NM_052998.2 NP_443724.1 Q96A70 ADC_HUMAN arginine decarboxylase 283 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) TACGTGACCTCGGCCTTCACT 0.587000 6 143 0 0 1 0 0 CCDC18 343099 broad.mit.edu 37 1 93692001 93692001 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:93692001G>A ENST00000343253.7 + 17 2786 c.2284G>A c.(2284-2286)Gaa>Aaa p.E762K CCDC18_ENST00000557479.1_Missense_Mutation_p.E881K|CCDC18_ENST00000401026.3_Missense_Mutation_p.E763K|CCDC18_ENST00000338949.4_Missense_Mutation_p.E518K|CCDC18_ENST00000334652.5_Missense_Mutation_p.E58K|CCDC18_ENST00000421014.2_3'UTR Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 762 breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) GAAGAAATCTGAAGAGGTAAA 0.249000 12 26 0 0 1 0 0 RSPH4A 345895 broad.mit.edu 37 6 116949506 116949506 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:116949506C>T ENST00000229554.5 + 3 1773 c.1636C>T c.(1636-1638)Cat>Tat p.H546Y RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Missense_Mutation_p.H546Y NM_001010892.2 NP_001010892.1 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A (Chlamydomonas) 546 Glu-rich. cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 CAATTGGGTTCATCATGTACA 0.403000 Kartagener syndrome 37 120 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577099 7577099 + Missense_Mutation SNP C C T rs121912660 TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:7577099C>T ENST00000420246.2 - 8 971 c.839G>A c.(838-840)aGa>aAa p.R280K TP53_ENST00000359597.4_Missense_Mutation_p.R280K|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R280K|TP53_ENST00000455263.2_Missense_Mutation_p.R280K|TP53_ENST00000269305.4_Missense_Mutation_p.R280K NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 280 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCGCCGGTCTCTCCCAGGACA 0.542000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 12 9 0 0 1 0 0 S100A9 6280 broad.mit.edu 37 1 153330787 153330787 + Missense_Mutation SNP C C T rs140601192 byFrequency TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:153330787C>T ENST00000368738.3 + 2 71 c.28C>T c.(28-30)Cgc>Tgc p.R10C NM_002965.3 NP_002956.1 P06702 S10A9_HUMAN S100 calcium binding protein A9 10 cell-cell signaling cytoplasm|cytoskeleton|nucleus|plasma membrane calcium ion binding|protein binding|signal transducer activity breast(1)|endometrium(1)|large_intestine(2) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) GCAGCTGGAACGCAACATAGA 0.478000 39 105 0 0 1 0 0 ANKS1A 23294 broad.mit.edu 37 6 34985689 34985689 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:34985689C>T ENST00000360359.3 + 11 2001 c.1863C>T c.(1861-1863)cgC>cgT p.R621R ANKS1A_ENST00000535627.1_Intron NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 621 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 AACTCAGCCGCAGCTTGTCCA 0.592000 20 183 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2978460 2978460 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:2978460C>T ENST00000396946.4 - 7 1273 c.870G>A c.(868-870)ggG>ggA p.G290G NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 290 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway 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) GGCTGCGCTTCCCGGCCTGGG 0.632000 Mis DLBCL 15 50 0 0 1 0 0 UHRF1 29128 broad.mit.edu 37 19 4910993 4910993 + RNA SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:4910993C>A ENST00000592666.1 + 0 672 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 1 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) GGCGGAAGATCCAGGAGCTGT 0.622000 OREG0025176 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 78 3.28615e-30 3.62285e-30 1 1 0 SSPO 23145 broad.mit.edu 37 7 149489754 149489754 + RNA SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:149489754C>G ENST00000378016.2 + 0 5810 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TTCCGGAGCTCCAACAACCCC 0.697000 14 26 0 0 1 0 0 NIPSNAP3A 25934 broad.mit.edu 37 9 107521388 107521388 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:107521388G>C ENST00000374767.4 + 5 708 c.603G>C c.(601-603)gaG>gaC p.E201D NIPSNAP3A_ENST00000471001.1_3'UTR NM_015469.1 NP_056284.1 nipsnap homolog 3A (C. elegans) autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 8 GGTGGAATGAGAGTGCAGATA 0.388000 5 9 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63920999 63920999 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:63920999T>C ENST00000443617.2 - 70 13069 c.12982A>G c.(12982-12984)Acc>Gcc p.T4328A NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4328 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 ACATGGTTGGTATGGCCTAAG 0.468000 47 99 0 0 1 0 0 OR2B6 26212 broad.mit.edu 37 6 27925119 27925119 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:27925119C>G ENST00000244623.1 + 1 101 c.101C>G c.(100-102)tCt>tGt p.S34C NM_012367.1 NP_036499.1 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, member 6 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TTCTTGATTTCTTACACTGTG 0.418000 21 65 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39228574 39228574 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:39228574C>T ENST00000340369.3 - 2 2591 c.2363G>A c.(2362-2364)gGa>gAa p.G788E XIRP1_ENST00000396251.1_Missense_Mutation_p.G788E|XIRP1_ENST00000421646.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 788 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GAGGATGCCTCCATGGTGCAG 0.622000 35 35 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78649319 78649319 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:78649319C>G ENST00000436010.2 - 28 5765 c.4768G>C c.(4768-4770)Gaa>Caa p.E1590Q ROBO1_ENST00000495273.1_Missense_Mutation_p.E1584Q|ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000464233.1_Missense_Mutation_p.E1629Q|ROBO1_ENST00000467549.1_Missense_Mutation_p.E1529Q Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1629 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) ACCTGCATTTCTGCAATATTT 0.378000 9 28 0 0 1 0 0 SNX33 257364 broad.mit.edu 37 15 75942838 75942838 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:75942838C>G ENST00000308527.5 + 1 2592 c.1395C>G c.(1393-1395)ctC>ctG p.L465L NM_153271.1 NP_695003.1 Q8WV41 SNX33_HUMAN sorting nexin 33 465 BAR. cell communication phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 19 AGAATGACCTCTTCCAGATGC 0.542000 71 118 0 0 1 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36128344 36128344 + Splice_Site SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:36128344C>A ENST00000258840.6 - 28 4400 c.4010G>T c.(4009-4011)cGa>cTa p.R1337L RALGAPA1_ENST00000382366.3_Splice_Site_p.R1303L|RALGAPA1_ENST00000389698.3_Splice_Site_p.R1290L|RALGAPA1_ENST00000307138.6_Splice_Site_p.R1290L NM_001283044.1 NP_001269973.1 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 1290 Minimal domain that binds to TCF3/E12 (By similarity). activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TCCGACCTACCGTGCAGGACC 0.368000 27 21 1.60099e-16 1.72611e-16 1 1 0 SLC18A3 6572 broad.mit.edu 37 10 50819359 50819359 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:50819359C>T ENST00000374115.3 + 1 1013 c.573C>T c.(571-573)ttC>ttT p.F191F CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 191 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity p.F191F(1) endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 GCTCAGCCTTCGCCGACACGT 0.657000 6 14 0 0 1 0 0 STAC3 246329 broad.mit.edu 37 12 57637672 57637672 + Nonsense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:57637672C>A ENST00000332782.2 - 12 1219 c.1018G>T c.(1018-1020)Gaa>Taa p.E340* STAC3_ENST00000546246.2_Nonsense_Mutation_p.E154*|STAC3_ENST00000554578.1_Nonsense_Mutation_p.E301* NM_145064.1 NP_659501.1 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 340 SH3 2. intracellular signal transduction identical protein binding|metal ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1) 18 CCGCCCGCTTCGTCTCCTTTC 0.562000 OREG0021942 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 16 8.12818e-05 8.32945e-05 1 1 0 METAP1D 254042 broad.mit.edu 37 2 172928567 172928567 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:172928567C>G ENST00000315796.4 + 3 714 c.327C>G c.(325-327)ctC>ctG p.L109L METAP1D_ENST00000488581.1_3'UTR NM_199227.1 NP_954697.1 Q6UB28 AMP1D_HUMAN methionyl aminopeptidase type 1D (mitochondrial) 109 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 8 ACGTCCTCCTCTTGGCTGGGA 0.488000 23 32 0 0 1 0 0 CSPP1 79848 broad.mit.edu 37 8 68044264 68044264 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr8:68044264G>A ENST00000262210.5 + 14 1792 c.1761G>A c.(1759-1761)ccG>ccA p.P587P CSPP1_ENST00000412460.1_Silent_p.P293P NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 622 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) AAGATAAACCGAAACCTTCCA 0.353000 28 69 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168103798 168103798 + Nonsense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:168103798C>T ENST00000409195.1 + 9 5985 c.5896C>T c.(5896-5898)Cag>Tag p.Q1966* XIRP2_ENST00000409273.1_Nonsense_Mutation_p.Q1744*|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.Q1966*|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1791 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGATATTCATCAGGTTGCTGT 0.448000 18 20 0 0 1 0 0 MRPL33 9553 broad.mit.edu 37 2 27997348 27997348 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:27997348G>A ENST00000296102.3 + 3 160 c.99G>A c.(97-99)aaG>aaA p.K33K MRPL33_ENST00000379666.3_Intron|MRPL33_ENST00000483992.1_Intron NM_004891.3 NP_004882.1 O75394 RM33_HUMAN mitochondrial ribosomal protein L33 33 translation mitochondrion|ribosome structural constituent of ribosome breast(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(172;0.155) TCAACACCAAGAGAAACCGAC 0.453000 51 88 0 0 1 0 0 ALDH3B1 221 broad.mit.edu 37 11 67789327 67789327 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:67789327G>A ENST00000539229.1 + 9 1047 c.931G>A c.(931-933)Gat>Aat p.D311N ALDH3B1_ENST00000342456.6_Missense_Mutation_p.D275N|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.D311N|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000316367.6_Intron NM_001161473.1 NP_001154945.1 P43353 AL3B1_HUMAN aldehyde dehydrogenase 3 family, member B1 313 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase NADH(DB00157) CGATGAGAGCGATCGCTACAT 0.657000 44 46 0 0 1 0 0 CDYL 9425 broad.mit.edu 37 6 4943831 4943831 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:4943831C>T ENST00000328908.5 + 7 1466 c.1335C>T c.(1333-1335)gtC>gtT p.V445V CDYL_ENST00000343762.5_Silent_p.V259V|CDYL_ENST00000449732.2_Silent_p.V259V|CDYL_ENST00000397588.3_Silent_p.V391V|CDYL_ENST00000472453.1_3'UTR Q9Y232 CDYL1_HUMAN chromodomain protein, Y-like 445 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1) 30 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) TTGTAGCAGTCAATGGCCCAG 0.383000 6 83 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681278 100681278 + Missense_Mutation SNP A A C rs145957833 byFrequency TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:100681278A>C ENST00000306151.4 + 3 6645 c.6581A>C c.(6580-6582)aAt>aCt p.N2194T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2194 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCTGTGACCAATTCTACTGAA 0.493000 6 597 0 0 1 0 0 LETM2 137994 broad.mit.edu 37 8 38250110 38250110 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr8:38250110G>C ENST00000519476.2 + 3 398 c.98G>C c.(97-99)tGt>tCt p.C33S LETM2_ENST00000379957.4_Missense_Mutation_p.C33S|LETM2_ENST00000523983.2_Intron|LETM2_ENST00000524874.1_Missense_Mutation_p.C33S|LETM2_ENST00000297720.5_Intron Q2VYF4 LETM2_HUMAN leucine zipper-EF-hand containing transmembrane protein 2 33 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) TCCCCATCATGTGCATTTCTT 0.398000 55 329 0 0 1 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42796877 42796877 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:42796877C>T ENST00000314073.5 + 6 982 c.806C>T c.(805-807)tCt>tTt p.S269F GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S269F GLTSCR1-like TTTGGGAACTCTAGTTCCAGT 0.453000 14 20 0 0 1 0 0 CNOT10 25904 broad.mit.edu 37 3 32814971 32814971 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:32814971G>C ENST00000328834.5 + 19 2419 c.2103G>C c.(2101-2103)caG>caC p.Q701H CNOT10_ENST00000454516.2_Missense_Mutation_p.Q761H|CNOT10_ENST00000331889.6_Missense_Mutation_p.Q674H NM_015442.2 NP_056257.1 Q9H9A5 CNOTA_HUMAN CCR4-NOT transcription complex, subunit 10 701 nuclear-transcribed mRNA poly(A) tail shortening cytosol protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3) 23 TGGCCTTACAGATCATCAAAA 0.443000 116 315 0 0 1 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69002384 69002384 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:69002384G>A ENST00000295381.3 + 2 512 c.93G>A c.(91-93)caG>caA p.Q31Q ARHGAP25_ENST00000497079.1_Silent_p.Q24Q|ARHGAP25_ENST00000409202.3_Silent_p.Q31Q|ARHGAP25_ENST00000409220.1_Silent_p.Q24Q|ARHGAP25_ENST00000409030.3_Silent_p.Q24Q|ARHGAP25_ENST00000467265.1_Silent_p.Q31Q|ARHGAP25_ENST00000544262.1_Silent_p.Q5Q|ARHGAP25_ENST00000456116.2_3'UTR NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 31 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 CTGGCGAGCAGATGGCTGCCT 0.597000 178 324 0 0 1 0 0 GSTT1 2952 broad.mit.edu 37 22 24376503 24376503 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr22:24376503G>A ENST00000248935.5 - 5 695 c.643C>T c.(643-645)Ctg>Ttg p.L215L GSTT1_ENST00000439996.2_Silent_p.L97L NM_000853.2 NP_000844.2 P30711 GSTT1_HUMAN glutathione S-transferase theta 1 215 GST C-terminal. glutathione metabolic process cytosol|soluble fraction glutathione peroxidase activity|glutathione transferase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1) 6 Glutathione(DB00143) TTGGCCTTCAGAATGACCTCA 0.622000 Myelodysplasia and Acute Myeloid Leukemia (AML), Familial 28 113 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 98039506 98039506 + Silent SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:98039506T>C ENST00000370192.3 - 11 1249 c.1149A>G c.(1147-1149)gaA>gaG p.E383E NM_000110.3 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 383 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) ATTCACACTTTTCTTCCTTAG 0.368000 16 29 0 0 1 0 0 SLCO4A1 28231 broad.mit.edu 37 20 61299480 61299480 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:61299480C>A ENST00000217159.1 + 9 1960 c.1755C>A c.(1753-1755)ttC>ttA p.F585L SLCO4A1_ENST00000470412.1_3'UTR|SLCO4A1_ENST00000370507.1_Missense_Mutation_p.F585L NM_016354.3 NP_057438.3 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family, member 4A1 585 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2) 21 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) TTTTCATATTCGTTGTAATTT 0.488000 OREG0026115 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 56 3.6726e-16 3.94383e-16 1 1 0 SH3RF2 153769 broad.mit.edu 37 5 145317639 145317639 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:145317639C>T ENST00000511217.1 + 1 200 c.148C>T c.(148-150)Ccc>Tcc p.P50S SH3RF2_ENST00000359120.4_Missense_Mutation_p.P50S Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 50 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCTGCGGTGCCCCGAATGCAG 0.592000 4 37 0 0 1 0 0 PLCG1 5335 broad.mit.edu 37 20 39802354 39802354 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:39802354G>A ENST00000373272.2 + 29 3862 c.3457G>A c.(3457-3459)Gaa>Aaa p.E1153K PLCG1_ENST00000244007.3_Missense_Mutation_p.E1153K|PLCG1_ENST00000373271.1_Missense_Mutation_p.E1153K|PLCG1_ENST00000608689.1_3'UTR NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 1153 C2. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) CAGTAACCCTGAATTTGCCTT 0.507000 OREG0025953 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 98 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56203518 56203518 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr18:56203518C>G ENST00000361673.3 - 5 4114 c.3901G>C c.(3901-3903)Gag>Cag p.E1301Q RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1301 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TCAGCATCCTCTGGACTGTGA 0.507000 23 50 0 0 1 0 0 TARDBP 23435 broad.mit.edu 37 1 11078800 11078800 + Missense_Mutation SNP A A C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:11078800A>C ENST00000240185.3 + 4 527 c.413A>C c.(412-414)gAt>gCt p.D138A TARDBP_ENST00000439080.2_Missense_Mutation_p.D22A|TARDBP_ENST00000315091.3_Missense_Mutation_p.D138A NM_007375.3 NP_031401.1 Q13148 TADBP_HUMAN TAR DNA binding protein 138 RRM 1. 3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2) 11 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0578) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487) GTCAAGAAAGATCTTAAGACT 0.368000 6 137 0 0 1 0 0 CLIP4 79745 broad.mit.edu 37 2 29386751 29386751 + Missense_Mutation SNP T T G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:29386751T>G ENST00000320081.5 + 13 1844 c.1589T>G c.(1588-1590)gTt>gGt p.V530G CLIP4_ENST00000401617.2_Missense_Mutation_p.V423G|CLIP4_ENST00000404424.1_Missense_Mutation_p.V530G|CLIP4_ENST00000401605.1_Missense_Mutation_p.V530G NM_024692.4 NP_078968.3 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, member 4 530 CAP-Gly 2. endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(172;0.155) GATGGTTCAGTTGGAGGTGTG 0.378000 19 109 0 0 1 0 0 SNX13 23161 broad.mit.edu 37 7 17890577 17890577 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:17890577G>C ENST00000409389.1 - 10 1020 c.848C>G c.(847-849)tCt>tGt p.S283C SNX13_ENST00000428135.3_Missense_Mutation_p.S283C Q9Y5W8 SNX13_HUMAN sorting nexin 13 283 PXA. cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(10;0.0261)|all_lung(11;0.0521) GTTGCAGTTAGAATCACGGAT 0.378000 3 12 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53958826 53958826 + RNA SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:53958826G>A ENST00000454407.1 + 0 1518 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) AACCTTACAAGTGTAATGAGT 0.418000 8 350 0 0 1 0 0 EHHADH 1962 broad.mit.edu 37 3 184922354 184922354 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:184922354C>T ENST00000231887.3 - 6 835 c.760G>A c.(760-762)Gag>Aag p.E254K EHHADH_ENST00000456310.1_Missense_Mutation_p.E158K NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 254 Enoyl-CoA hydratase / isomerase. peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) AGAAACAGCTCCTCCTCCTTC 0.537000 44 104 0 0 1 0 0 PALMD 54873 broad.mit.edu 37 1 100154591 100154591 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:100154591G>C ENST00000263174.4 + 7 1150 c.775G>C c.(775-777)Gag>Cag p.E259Q PALMD_ENST00000605497.1_Missense_Mutation_p.E259Q NM_017734.4 NP_060204.1 Q9NP74 PALMD_HUMAN palmdelphin 259 regulation of cell shape cytoplasm|membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) AGAGTATCATGAGCCTGTATA 0.453000 37 78 0 0 1 0 0 PSMF1 9491 broad.mit.edu 37 20 1106163 1106163 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:1106163C>T ENST00000335877.6 + 2 328 c.152C>T c.(151-153)tCa>tTa p.S51L PSMF1_ENST00000381898.4_5'UTR|PSMF1_ENST00000333082.3_Missense_Mutation_p.S51L|PSMF1_ENST00000438768.2_Missense_Mutation_p.S51L|PSMF1_ENST00000246015.4_Missense_Mutation_p.S51L NM_006814.3 NP_006805.2 Q92530 PSMF1_HUMAN proteasome (prosome, macropain) inhibitor subunit 1 (PI31) 51 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome core complex endopeptidase inhibitor activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(8) 13 GATAAGAAGTCAGAACTGCTG 0.463000 13 37 0 0 1 0 0 FKBP9L 360132 broad.mit.edu 37 7 55750447 55750447 + RNA SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:55750447C>G ENST00000455909.1 - 0 770 NR_027340.1|NR_027342.1 FK506 binding protein 9-like endometrium(1)|kidney(1)|lung(3) 5 TCTTCACAATCAGCTCAGCAT 0.488000 3 29 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124401030 124401030 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:124401030C>T ENST00000409039.3 + 62 10420 c.10395C>T c.(10393-10395)ttC>ttT p.F3465F NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3465 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ACCCTGACTTCCTCAAGCAGC 0.478000 53 78 0 0 1 0 0 AFF1 4299 broad.mit.edu 37 4 88036278 88036278 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr4:88036278C>T ENST00000307808.6 + 11 2692 c.2272C>T c.(2272-2274)Cca>Tca p.P758S AFF1_ENST00000395146.4_Missense_Mutation_p.P765S|AFF1_ENST00000544085.1_Missense_Mutation_p.P396S NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 758 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) CACTCCTCCCCCACAAAGCTT 0.597000 50 90 0 0 1 0 0 TMX2 51075 broad.mit.edu 37 11 57480128 57480128 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:57480128C>T ENST00000278422.4 + 1 50 c.38C>T c.(37-39)tCg>tTg p.S13L TMX2-CTNND1_ENST00000528395.1_Missense_Mutation_p.S13L|TMX2_ENST00000378312.4_Missense_Mutation_p.S13L NM_015959.3 NP_057043.1 Q9Y320 TMX2_HUMAN thioredoxin-related transmembrane protein 2 13 cell redox homeostasis integral to membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2) 12 CTCGTGTATTCGGTGCCGCGA 0.622000 10 31 0 0 1 0 0 SEC14L1 6397 broad.mit.edu 37 17 75196652 75196652 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:75196652G>C ENST00000413679.2 + 9 1209 c.906G>C c.(904-906)ttG>ttC p.L302F SEC14L1_ENST00000431431.2_Missense_Mutation_p.L268F|SEC14L1_ENST00000392476.2_Missense_Mutation_p.L302F|SEC14L1_ENST00000443798.4_Missense_Mutation_p.L302F|SEC14L1_ENST00000436233.4_Missense_Mutation_p.L302F|SEC14L1_ENST00000585618.1_Missense_Mutation_p.L302F|SEC14L1_ENST00000430767.4_Missense_Mutation_p.L302F|SEC14L1_ENST00000591437.1_Missense_Mutation_p.L268F NM_001143998.1|NM_001143999.1|NM_003003.3 NP_001137470|NP_001137471|NP_002994 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) 302 transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 GTCAGTCTTTGACGTGGAGAA 0.458000 58 37 0 0 1 0 0 PFKL 5211 broad.mit.edu 37 21 45743762 45743762 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:45743762C>T ENST00000403390.1 + 17 1752 c.1752C>T c.(1750-1752)ttC>ttT p.F584F PFKL_ENST00000349048.4_Silent_p.F537F P17858 K6PL_HUMAN phosphofructokinase, liver 537 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) GCACCGACTTCAGCCTGGGCT 0.652000 13 28 0 0 1 0 0 MFSD3 113655 broad.mit.edu 37 8 145736235 145736235 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr8:145736235C>G ENST00000301327.4 + 4 1274 c.1014C>G c.(1012-1014)gtC>gtG p.V338V NM_138431.1 NP_612440.1 Q96ES6 MFSD3_HUMAN major facilitator superfamily domain containing 3 338 Leu-rich. transmembrane transport integral to membrane central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4) 8 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TCACCACAGTCACCTTCACTG 0.642000 14 37 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16297332 16297332 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:16297332G>A ENST00000205557.7 - 8 962 c.933C>T c.(931-933)ttC>ttT p.F311F ABCC6_ENST00000574094.1_5'UTR NM_001171.5 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 311 ABC transmembrane type-1 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) TCCCCAGGAGGAAGGTAGAAT 0.592000 13 49 0 0 1 0 0 COL28A1 340267 broad.mit.edu 37 7 7516808 7516808 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:7516808G>A ENST00000399429.3 - 14 1308 c.1168C>T c.(1168-1170)Ccc>Tcc p.P390S NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 390 Collagen-like 3. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) GGACCACGGGGACCCTGGTTa 0.478000 8 28 0 0 1 0 0 ANKRD42 338699 broad.mit.edu 37 11 82938902 82938902 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:82938902C>G ENST00000260047.6 + 7 1693 c.898C>G c.(898-900)Cct>Gct p.P300A ANKRD42_ENST00000531895.1_Missense_Mutation_p.P301A|ANKRD42_ENST00000533342.1_Missense_Mutation_p.P301A|ANKRD42_ENST00000393392.2_Missense_Mutation_p.P273A Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 273 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 TGGATCAACTCCTATGCATAA 0.373000 35 101 0 0 1 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110582892 110582892 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:110582892C>T ENST00000260283.4 - 2 347 c.63G>A c.(61-63)ctG>ctA p.L21L ARHGAP20_ENST00000528829.1_Intron|ARHGAP20_ENST00000533353.1_Intron|ARHGAP20_ENST00000527598.1_Intron NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 21 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) ACACTCCTGTCAGGGAAGAGG 0.672000 7 13 0 0 1 0 0 OAS3 4940 broad.mit.edu 37 12 113388756 113388756 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:113388756C>G ENST00000228928.7 + 7 1812 c.1633C>G c.(1633-1635)Ctg>Gtg p.L545V RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 545 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 GGATGTTAGCCTGCTGCCTGC 0.617000 16 34 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350361 100350361 + RNA SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:100350361T>C ENST00000542585.1 + 0 2781 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACGGAAAAACTCACCATCCCC 0.502000 3 87 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124739800 124739800 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:124739800G>C ENST00000311127.4 - 4 1155 c.1088C>G c.(1087-1089)tCc>tGc p.S363C NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 363 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 GGCAATTCTGGAGTCCTTGGG 0.527000 13 32 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43819552 43819552 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:43819552G>A ENST00000382031.1 + 5 6626 c.6595G>A c.(6595-6597)Gat>Aat p.D2199N MAP1A_ENST00000399453.1_Missense_Mutation_p.D1961N|MAP1A_ENST00000300231.5_Missense_Mutation_p.D1961N P78559 MAP1A_HUMAN microtubule-associated protein 1A 1961 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) ACCCTATCCTGATGAGAGAAG 0.562000 23 68 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47754527 47754527 + Missense_Mutation SNP A A G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:47754527A>G ENST00000359568.5 + 3 591 c.484A>G c.(484-486)Agt>Ggt p.S162G PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 162 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GTTCACAGTCAGTGACCACCC 0.552000 5 96 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162579 90162579 + RNA SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:90162579C>T ENST00000564451.1 + 0 1932 TUBB8P7_ENST00000567960.1_RNA AGGAGTATGCCGAGGAGGAGG 0.512000 4 94 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027156 37027156 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chrX:37027156C>G ENST00000358047.3 + 1 725 c.673C>G c.(673-675)Cag>Gag p.Q225E NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 225 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TCTCCGCCCACAGCCTCCCAA 0.647000 5 52 0 0 1 0 0 ADGRG1 9289 broad.mit.edu 37 16 57693571 57693571 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:57693571C>G ENST00000562631.1 + 11 2065 c.1533C>G c.(1531-1533)ctC>ctG p.L511L GPR56_ENST00000388812.4_Silent_p.L517L|GPR56_ENST00000379694.4_Silent_p.L347L|GPR56_ENST00000388813.5_Silent_p.L511L|GPR56_ENST00000544297.1_Silent_p.L336L|GPR56_ENST00000540164.2_Silent_p.L511L|GPR56_ENST00000379696.3_Silent_p.L517L|GPR56_ENST00000568909.1_Silent_p.L517L|GPR56_ENST00000456916.1_Silent_p.L517L|GPR56_ENST00000562558.1_Silent_p.L511L|GPR56_ENST00000538815.1_Silent_p.L511L|GPR56_ENST00000567835.1_Silent_p.L517L|GPR56_ENST00000568908.1_Silent_p.L511L Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 517 brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 15 GCTACCTACTCAAGCTGAGCG 0.622000 14 83 0 0 1 0 0 DIS3L 115752 broad.mit.edu 37 15 66625127 66625127 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:66625127C>T ENST00000319194.5 + 16 2747 c.2486C>T c.(2485-2487)tCa>tTa p.S829L DIS3L_ENST00000319212.4_Missense_Mutation_p.S912L NM_133375.3 NP_588616.1 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 912 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TTAGTCATCTCATGTGGCCCA 0.363000 37 50 0 0 1 0 0 EIF4G2 1982 broad.mit.edu 37 11 10821737 10821737 + Silent SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:10821737G>C ENST00000526148.1 - 18 2529 c.2019C>G c.(2017-2019)ctC>ctG p.L673L EIF4G2_ENST00000525681.1_Silent_p.L673L|EIF4G2_ENST00000396525.2_Silent_p.L635L|EIF4G2_ENST00000339995.5_Silent_p.L673L|RP11-685M7.5_ENST00000532365.1_RNA NM_001172705.1 NP_001166176 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 gamma, 2 673 cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) AAAGTAGGAAGAGAGGAAAAT 0.413000 15 13 0 0 1 0 0 IL21R 50615 broad.mit.edu 37 16 27456588 27456588 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:27456588C>T ENST00000337929.3 + 7 1249 c.776C>T c.(775-777)cCa>cTa p.P259L IL21R_ENST00000395754.4_Missense_Mutation_p.P259L|IL21R_ENST00000564089.1_Missense_Mutation_p.P259L|IL21R_ENST00000395755.1_Missense_Mutation_p.P259L|IL21R_ENST00000564583.1_3'UTR NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 259 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 AAGACCCATCCATTGTGGAGG 0.552000 T BCL6 NHL 12 13 0 0 1 0 0 MIA3 375056 broad.mit.edu 37 1 222833629 222833629 + Nonsense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:222833629C>T ENST00000344922.5 + 24 5111 c.5086C>T c.(5086-5088)Cga>Tga p.R1696* MIA3_ENST00000344507.1_Intron|RP11-378J18.8_ENST00000608771.1_RNA|MIA3_ENST00000340535.7_Nonsense_Mutation_p.R574*|MIA3_ENST00000344441.6_Nonsense_Mutation_p.R1696* NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1696 Pro-rich. exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) TACTCTCAATCGAAGAGATAT 0.463000 19 54 0 0 1 0 0 MAPK3 5595 broad.mit.edu 37 16 30134479 30134479 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:30134479C>G ENST00000403394.1 - 1 151 c.52G>C c.(52-54)Gag>Cag p.E18Q MAPK3_ENST00000322266.5_Missense_Mutation_p.E18Q|MAPK3_ENST00000395202.1_Missense_Mutation_p.E18Q|MAPK3_ENST00000395199.3_Missense_Mutation_p.E18Q|MAPK3_ENST00000263025.4_Missense_Mutation_p.E18Q NM_001040056.1 NP_001035145.1 P27361 MK03_HUMAN mitogen-activated protein kinase 3 18 activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter cytosol|nucleoplasm ATP binding|MAP kinase activity|phosphatase binding Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605) CCGACCCCCTCGGTTCTACGG 0.771000 20 7 0 0 1 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105924617 105924617 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:105924617G>A ENST00000393359.2 - 2 568 c.142C>T c.(142-144)Cac>Tac p.H48Y TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.H48Y Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 48 CNH. regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 AACAGGAAGTGGTAGACGAAG 0.612000 4 42 0 0 1 0 0 ZFAND6 54469 broad.mit.edu 37 15 80423554 80423554 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:80423554G>A ENST00000261749.6 + 6 819 c.397G>A c.(397-399)Gaa>Aaa p.E133K ZFAND6_ENST00000558688.1_Missense_Mutation_p.E133K|ZFAND6_ENST00000559835.1_Missense_Mutation_p.E133K|ZFAND6_ENST00000559157.1_Missense_Mutation_p.E121K|ZFAND6_ENST00000558087.1_Missense_Mutation_p.E133K|ZFAND6_ENST00000558494.1_Missense_Mutation_p.E133K|ZFAND6_ENST00000561060.1_Missense_Mutation_p.E133K|ZFAND6_ENST00000559775.1_Missense_Mutation_p.E133K NM_001242913.1|NM_001242914.1|NM_019006.3 NP_001229842.1|NP_001229843.1|NP_061879.2 Q6FIF0 ZFAN6_HUMAN zinc finger, AN1-type domain 6 133 DNA binding|zinc ion binding p.E133K(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 GCAGCCATCTGAAGAGCAAAG 0.388000 17 93 0 0 1 0 0 ITPKB 3707 broad.mit.edu 37 1 226827299 226827299 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:226827299C>T ENST00000429204.1 - 6 2839 c.2512G>A c.(2512-2514)Gag>Aag p.E838K ITPKB_ENST00000272117.3_Missense_Mutation_p.E838K NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 838 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) CTGAAGGCCTCGGTGACCTGC 0.567000 16 35 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81741427 81741427 + Missense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:81741427G>T ENST00000550584.2 - 17 2412 c.2117C>A c.(2116-2118)gCc>gAc p.A706D PPFIA2_ENST00000548586.1_Missense_Mutation_p.A706D|PPFIA2_ENST00000541570.2_Missense_Mutation_p.A273D|PPFIA2_ENST00000549325.1_Missense_Mutation_p.A688D|PPFIA2_ENST00000550359.2_Missense_Mutation_p.A553D|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.A607D|PPFIA2_ENST00000552948.1_Missense_Mutation_p.A706D|PPFIA2_ENST00000333447.7_Missense_Mutation_p.A688D|PPFIA2_ENST00000549396.1_Missense_Mutation_p.A706D|PPFIA2_ENST00000407050.4_Missense_Mutation_p.A632D NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 632 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TGTAACAGAGGCAGTAATGGA 0.532000 64 103 7.07328e-35 7.81402e-35 1 1 0 DRD3 1814 broad.mit.edu 37 3 113847752 113847752 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:113847752G>A ENST00000383673.2 - 7 1444 c.1014C>T c.(1012-1014)ttC>ttT p.F338F DRD3_ENST00000295881.7_Silent_p.F305F|DRD3_ENST00000467632.1_Silent_p.F338F|DRD3_ENST00000460779.1_Silent_p.F338F NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 338 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) AGCAGACAATGAAGGCCCCTA 0.483000 32 60 0 0 1 0 0 JADE3 9767 broad.mit.edu 37 X 46913971 46913971 + Nonsense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chrX:46913971G>T ENST00000218343.4 + 9 1682 c.1384G>T c.(1384-1386)Gag>Tag p.E462* PHF16_ENST00000397189.1_Nonsense_Mutation_p.E462* NM_014735.3 NP_055550.1 Q92613 JADE3_HUMAN 462 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 GCAGCCAAAAGAGGAAAGCAT 0.443000 10 6 0.00010058 0.000102679 1 1 0 PEG3 5178 broad.mit.edu 37 19 57335838 57335838 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:57335838C>T ENST00000326441.9 - 4 549 c.186G>A c.(184-186)aaG>aaA p.K62K PEG3_ENST00000598410.1_Intron|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000599935.1_5'UTR|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.K62K|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000594706.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_5'UTR NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 62 SCAN box. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 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) TGATCAGGGTCTTCCGAGGCC 0.512000 12 73 0 0 1 0 0 RARG 5916 broad.mit.edu 37 12 53621231 53621231 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:53621231G>A ENST00000425354.2 - 3 586 c.99C>T c.(97-99)ctC>ctT p.L33L RARG_ENST00000394426.1_Silent_p.L33L|RARG_ENST00000543762.1_Intron|RARG_ENST00000327550.3_Intron NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 33 Modulating. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) GAGACCCCCTGAGTGCCCCTG 0.647000 6 14 0 0 1 0 0 LY86 9450 broad.mit.edu 37 6 6589066 6589066 + Nonsense_Mutation SNP T T A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:6589066T>A ENST00000379953.2 + 2 451 c.99T>A c.(97-99)tgT>tgA p.C33* LY86_ENST00000230568.4_Nonsense_Mutation_p.C33*|LY86-AS1_ENST00000435641.1_RNA|LY86-AS1_ENST00000429345.1_RNA O95711 LY86_HUMAN lymphocyte antigen 86 33 apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response extracellular space|plasma membrane large_intestine(2)|lung(6) 8 Ovarian(93;0.0377) ACGTGGTCTGTAGCGACAGCG 0.572000 9 62 0 0 1 0 0 SPRR3 6707 broad.mit.edu 37 1 152975691 152975691 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:152975691C>T ENST00000331860.3 + 3 345 c.195C>T c.(193-195)ggC>ggT p.G65G SPRR3_ENST00000542696.1_Silent_p.G65G|SPRR3_ENST00000295367.4_Silent_p.G65G NM_005416.2 NP_005407.1 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 65 14 X 8 AA approximate tandem repeats. Missing (in Ref. 2; no nucleotide entry, 4; CAB65098 and 9; AAH17802). keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CTGAGCCAGGCTGTACCAAGG 0.557000 6 97 0 0 1 0 0 GRASP 160622 broad.mit.edu 37 12 52403023 52403023 + Splice_Site SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:52403023G>A ENST00000293662.4 + 2 376 c.296G>A c.(295-297)cGg>cAg p.R99Q GRASP_ENST00000552963.1_3'UTR NM_181711.2 NP_859062.1 Q7Z6J2 GRASP_HUMAN GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein 99 cell junction|perinuclear region of cytoplasm|postsynaptic membrane central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2) 5 BRCA - Breast invasive adenocarcinoma(357;0.0967) GAACAGCAGCGGTGAGTCACC 0.597000 37 75 0 0 1 0 0 E2F8 79733 broad.mit.edu 37 11 19253898 19253898 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:19253898C>T ENST00000527884.1 - 7 1181 c.949G>A c.(949-951)Gat>Aat p.D317N RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.D317N NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 317 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TTAGCTATATCATACAACCTC 0.358000 30 61 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103155835 103155835 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:103155835C>T ENST00000428762.1 - 50 8075 c.7916G>A c.(7915-7917)cGc>cAc p.R2639H RELN_ENST00000343529.5_Missense_Mutation_p.R2639H|RELN_ENST00000424685.2_Missense_Mutation_p.R2639H NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 2639 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTGCCACCAGCGGAAGCGAGT 0.512000 13 42 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79590569 79590569 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:79590569G>C ENST00000372391.2 - 10 1816 c.1811C>G c.(1810-1812)tCc>tGc p.S604C DLG5_ENST00000372388.2_Missense_Mutation_p.S604C NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 604 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CGAGTCGTGGGAGCTGTGGGC 0.567000 10 35 0 0 1 0 0 KCTD13 253980 broad.mit.edu 37 16 29918391 29918391 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:29918391C>T ENST00000568000.1 - 6 1793 c.792G>A c.(790-792)ctG>ctA p.L264L NM_178863.3 NP_849194.1 Q8WZ19 BACD1_HUMAN potassium channel tetramerization domain containing 13 264 cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 7 TGAGGATGTTCAGGGTCTCCT 0.672000 85 33 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32598123 32598123 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:32598123C>T ENST00000286827.3 - 8 2199 c.1728G>A c.(1726-1728)atG>atA p.M576I TIAM1_ENST00000541036.1_Missense_Mutation_p.M576I|TIAM1_ENST00000469412.1_5'UTR NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 576 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 TCTTTTCATCCATGTCAATCT 0.448000 22 45 0 0 1 0 0 IL17RE 132014 broad.mit.edu 37 3 9956431 9956431 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:9956431C>G ENST00000454190.2 + 15 1575 c.1490C>G c.(1489-1491)tCt>tGt p.S497C IL17RE_ENST00000421412.1_Missense_Mutation_p.L506V|IL17RE_ENST00000295980.3_Missense_Mutation_p.L473V|IL17RE_ENST00000383814.3_Missense_Mutation_p.L473V NM_001193380.1 NP_001180309.1 Q8NFR9 I17RE_HUMAN interleukin 17 receptor E 0 SEFIR. cytoplasm|extracellular region|integral to membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) GGGTGTTGTTCTGGCCCTCAC 0.617000 49 63 0 0 1 0 0 PDGFD 80310 broad.mit.edu 37 11 104034599 104034599 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:104034599C>T ENST00000302251.5 - 1 508 c.57G>A c.(55-57)cgG>cgA p.R19R PDGFD_ENST00000393158.2_Silent_p.R19R NM_025208.4|NM_033135.3 NP_079484.1|NP_149126.1 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D 19 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) CAGAAGTGTCCCGACAGCTGC 0.488000 OREG0021315 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 34 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77246380 77246380 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr18:77246380C>G ENST00000253506.5 + 9 2594 c.2225C>G c.(2224-2226)tCc>tGc p.S742C NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000329101.4_Missense_Mutation_p.S729C|NFATC1_ENST00000397790.2_Missense_Mutation_p.S270C|NFATC1_ENST00000545796.1_Missense_Mutation_p.S270C|NFATC1_ENST00000318065.5_Missense_Mutation_p.S729C|NFATC1_ENST00000427363.2_Missense_Mutation_p.S742C NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 0 Trans-activation domain B (TAD-B). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) GACCCCAGCTCCTGCCTCGTG 0.662000 57 129 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86284652 86284652 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:86284652G>C ENST00000394518.2 + 35 8079 c.7984G>C c.(7984-7986)Gag>Cag p.E2662Q AKAP13_ENST00000361243.2_Missense_Mutation_p.E2666Q|AKAP13_ENST00000394510.2_Missense_Mutation_p.E907Q|AKAP13_ENST00000560579.1_3'UTR NM_001270546.1|NM_007200.4 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 2662 Interaction with ESR1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 GAAACAGCTTGAGAGGGAACA 0.627000 14 24 0 0 1 0 0 FBXW4 6468 broad.mit.edu 37 10 103371502 103371502 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:103371502C>A ENST00000331272.7 - 8 1620 c.1002G>T c.(1000-1002)gaG>gaT p.E334D FBXW4_ENST00000470093.1_5'UTR NM_022039.3 NP_071322.1 P57775 FBXW4_HUMAN F-box and WD repeat domain containing 4 334 ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway ubiquitin ligase complex breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 15 Colorectal(252;0.123) Epithelial(162;4.35e-08)|all cancers(201;1.92e-06) TGTCGTGGGGCTCCTCCCACT 0.592000 3 43 0.014758 0.0149525 1 1 0 IGSF5 150084 broad.mit.edu 37 21 41142978 41142978 + Nonsense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:41142978C>G ENST00000380588.4 + 4 657 c.554C>G c.(553-555)tCa>tGa p.S185* IGSF5_ENST00000479378.1_3'UTR NM_001080444.1 NP_001073913.1 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily, member 5 185 Ig-like V-type 2. integral to membrane|tight junction p.S185*(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) GTCAGCCATTCAAGCTATTAT 0.537000 13 29 0 0 1 0 0 SLC12A1 6557 broad.mit.edu 37 15 48548007 48548007 + Splice_Site SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:48548007G>A ENST00000396577.3 + 16 2157 c.e16-1 SLC12A1_ENST00000380993.3_Splice_Site|SLC12A1_ENST00000558405.1_Splice_Site NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) TTTATCCACAGATGTGAACTG 0.423000 3 10 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128839034 128839034 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:128839034C>A ENST00000310343.9 - 22 6031 c.6032G>T c.(6031-6033)gGc>gTc p.G2011V ARHGAP32_ENST00000392657.3_Missense_Mutation_p.G1662V|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.G1662V|ARHGAP32_ENST00000524655.1_3'UTR NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 2011 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 CTGGCGCTTGCCGTGTGGTTG 0.572000 19 55 6.44725e-10 6.85498e-10 1 1 0 SMIM7 79086 broad.mit.edu 37 19 16770802 16770802 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:16770802C>T ENST00000487416.2 - 2 82 c.36G>A c.(34-36)ctG>ctA p.L12L CTC-429P9.4_ENST00000600705.1_Silent_p.L12L|CTC-429P9.4_ENST00000593962.1_5'UTR|SMIM7_ENST00000358726.6_Silent_p.L12L|SMIM7_ENST00000597711.1_Silent_p.L12L NM_024104.3 NP_077009.2 small integral membrane protein 7 CGGCATTCATCAGCAACGTCC 0.617000 7 26 0 0 1 0 0 DUSP22 56940 broad.mit.edu 37 6 348771 348771 + Silent SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:348771T>C ENST00000604971.1 + 4 1242 c.129T>C c.(127-129)taT>taC p.Y43Y DUSP22_ENST00000419235.2_Silent_p.Y146Y|DUSP22_ENST00000603453.1_Silent_p.Y43Y|DUSP22_ENST00000344450.5_Silent_p.Y146Y|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000605315.1_Silent_p.Y43Y Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 146 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) CTCTCCAGTATCGGCAGTGGC 0.517000 5 107 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102291872 102291872 + RNA SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:102291872G>A ENST00000561463.1 + 0 638 AGACCGTGTGGAACCTCATGG 0.562000 25 38 0 0 1 0 0 MSH3 4437 broad.mit.edu 37 5 79965995 79965995 + Nonsense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:79965995C>A ENST00000265081.6 + 4 739 c.659C>A c.(658-660)tCa>tAa p.S220* NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 220 Interaction with EXO1. maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) GCTTCCAAATCAGCTAACAAA 0.378000 Mismatch excision repair (MMR) 13 13 0.00010058 0.000102679 1 1 0 DPYD 1806 broad.mit.edu 37 1 97981460 97981460 + Missense_Mutation SNP A A T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:97981460A>T ENST00000370192.3 - 13 1662 c.1562T>A c.(1561-1563)cTa>cAa p.L521Q NM_000110.3 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 521 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) AAAGAGGGGTAGTTCAGGCTT 0.388000 7 51 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26706333 26706333 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:26706333C>T ENST00000272371.2 - 13 1515 c.1389G>A c.(1387-1389)caG>caA p.Q463Q OTOF_ENST00000403946.3_Silent_p.Q463Q NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 463 C2 2. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCAGTACCTTCTGGCCAGCAA 0.567000 20 44 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48318544 48318544 + Nonsense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:48318544G>T ENST00000435803.1 + 18 7777 c.7753G>T c.(7753-7755)Gaa>Taa p.E2585* NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2585 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TTTCACATTTGAAAAGATAAA 0.308000 17 65 8.00594e-06 8.25133e-06 1 1 0 ZNF626 199777 broad.mit.edu 37 19 20807460 20807460 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:20807460T>C ENST00000601440.1 - 4 1369 c.1223A>G c.(1222-1224)tAc>tGc p.Y408C CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Y408C(1) breast(1)|endometrium(1)|lung(3)|skin(1) 6 GTTAGAGGAGTACTTAAAAGC 0.408000 3 137 0 0 1 0 0 NID1 4811 broad.mit.edu 37 1 236205225 236205225 + Nonsense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:236205225C>A ENST00000264187.6 - 4 1202 c.1120G>T c.(1120-1122)Gag>Tag p.E374* NID1_ENST00000366595.3_Nonsense_Mutation_p.E374* NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 374 cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CCTGTTTCCTCAACTTCATCC 0.512000 27 42 4.39465e-27 4.80553e-27 1 1 0 ZW10 9183 broad.mit.edu 37 11 113608339 113608339 + Silent SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:113608339G>C ENST00000200135.3 - 14 2115 c.1971C>G c.(1969-1971)ctC>ctG p.L657L NM_004724.3 NP_004715.1 O43264 ZW10_HUMAN zw10 kinetochore protein 657 cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 18 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) TTGCTGTATTGAGTAAAGTCC 0.433000 38 92 0 0 1 0 0 SCUBE3 222663 broad.mit.edu 37 6 35211828 35211828 + Silent SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:35211828G>C ENST00000274938.7 + 17 2160 c.2160G>C c.(2158-2160)cgG>cgC p.R720R SCUBE3_ENST00000394681.1_Silent_p.R736R NM_152753.2 NP_689966.2 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 720 protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 37 AAGCAGGACGGACCCTATGCT 0.567000 10 22 0 0 1 0 0 OR10H2 26538 broad.mit.edu 37 19 15839103 15839103 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:15839103G>A ENST00000305899.3 + 1 270 c.250G>A c.(250-252)Gac>Aac p.D84N NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 84 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) CATGCTGGCCGACCTGCTGTC 0.622000 3 45 0 0 1 0 0 TNFRSF8 943 broad.mit.edu 37 1 12183421 12183421 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:12183421G>C ENST00000263932.2 + 9 1249 c.1027G>C c.(1027-1029)Gag>Cag p.E343Q TNFRSF8_ENST00000417814.2_Missense_Mutation_p.E232Q NM_001243.3|NM_001281430.1 NP_001234.2|NP_001268359.1 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 343 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) AGAGAATGGCGAGGCGCCTGC 0.652000 7 14 0 0 1 0 0 FAM120A 23196 broad.mit.edu 37 9 96259828 96259828 + Nonsense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:96259828C>T ENST00000277165.6 + 4 1074 c.880C>T c.(880-882)Cag>Tag p.Q294* FAM120A_ENST00000340893.4_Nonsense_Mutation_p.Q294*|FAM120A_ENST00000333936.5_Nonsense_Mutation_p.Q294*|FAM120A_ENST00000375389.3_Nonsense_Mutation_p.Q294* NM_014612.3 NP_055427.2 Q9NZB2 F120A_HUMAN family with sequence similarity 120A 294 cytoplasm|plasma membrane RNA binding endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 ACGCAACATTCAGGACACCTC 0.433000 29 17 0 0 1 0 0 ZMYM6 9204 broad.mit.edu 37 1 35452810 35452810 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:35452810C>G ENST00000357182.4 - 16 4100 c.3873G>C c.(3871-3873)ttG>ttC p.L1291F ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Intron NM_007167.3 NP_009098.3 O95789 ZMYM6_HUMAN zinc finger, MYM-type 6 1291 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) TTGACTCAGTCAAAGCTGAAA 0.368000 14 32 0 0 1 0 0 LEPRE1 64175 broad.mit.edu 37 1 43212919 43212919 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:43212919C>G ENST00000236040.4 - 14 2119 c.2079G>C c.(2077-2079)gaG>gaC p.E693D LEPRE1_ENST00000296388.5_Intron|LEPRE1_ENST00000397054.3_Intron|LEPRE1_ENST00000462474.1_Intron NM_001243246.1 NP_001230175.1 Q32P28 P3H1_HUMAN leucine proline-enriched proteoglycan (leprecan) 1 0 negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3) 26 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) ACCAGCTGCTCTCACCCGCTC 0.622000 OREG0013422 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 47 0 0 1 0 0 SV2A 9900 broad.mit.edu 37 1 149884828 149884828 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:149884828C>T ENST00000369146.3 - 2 1055 c.565G>A c.(565-567)Gtg>Atg p.V189M SV2A_ENST00000369145.1_Missense_Mutation_p.V189M NM_001278719.1|NM_014849.3 NP_001265648.1|NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 189 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CTGGGCAGCACGAAGCCCACC 0.582000 105 87 0 0 1 0 0 TRIM69 140691 broad.mit.edu 37 15 45047506 45047506 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:45047506G>C ENST00000559390.1 + 3 1343 c.415G>C c.(415-417)Gat>Cat p.D139H TRIM69_ENST00000558173.1_5'UTR|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000329464.4_Missense_Mutation_p.D139H|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000561043.1_Intron Q86WT6 TRI69_HUMAN tripartite motif containing 69 139 Necessary for nuclear localization (By similarity). apoptosis nuclear speck zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1) 20 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) TCAATGCAAGGATGCTCGGTT 0.507000 30 36 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158435644 158435644 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:158435644C>G ENST00000289451.2 + 1 373 c.293C>G c.(292-294)gCc>gGc p.A98G NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) CTGGGCTGTGCCATCCAAATG 0.493000 4 123 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 3 52 0.115264 0.11591 1 1 0 KIAA2018 205717 broad.mit.edu 37 3 113378792 113378792 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:113378792C>G ENST00000316407.4 - 7 2147 c.1737G>C c.(1735-1737)caG>caC p.Q579H KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.Q579H NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 579 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 TGATTACTATCTGTTGACCTA 0.468000 8 159 0 0 1 0 0 CCBE1 147372 broad.mit.edu 37 18 57363928 57363928 + Nonsense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr18:57363928C>A ENST00000439986.4 - 2 182 c.145G>T c.(145-147)Gag>Tag p.E49* RP11-2N1.2_ENST00000588946.1_RNA NM_133459.3 NP_597716.1 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 49 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding p.E49K(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) ATTTTGCTCTCTGAGCAGATT 0.587000 OREG0025022 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 54 2.32078e-09 2.46269e-09 1 1 0 BMS1P20 96610 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 9 46 0 0 1 0 0 SYNPR 132204 broad.mit.edu 37 3 63542282 63542282 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:63542282G>C ENST00000478300.1 + 4 684 c.273G>C c.(271-273)ttG>ttC p.L91F SYNPR_ENST00000465156.1_Missense_Mutation_p.L71F|SYNPR_ENST00000295894.5_Missense_Mutation_p.L71F|SYNPR_ENST00000478744.1_3'UTR|SYNPR_ENST00000460711.1_Missense_Mutation_p.L82F|SYNPR_ENST00000479198.1_Missense_Mutation_p.L71F NM_001130003.1 NP_001123475.1 Q8TBG9 SYNPR_HUMAN synaptoporin 71 MARVEL. cell junction|integral to membrane|synaptic vesicle membrane|synaptosome transporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904) AGCTGGCATTGATTGGTGACT 0.488000 12 21 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544783 23544783 + Missense_Mutation SNP C C T rs410211 TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:23544783C>T ENST00000300619.7 - 4 1203 c.998G>A c.(997-999)cGt>cAt p.R333H ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 333 R -> H (in Ref. 1; AAA59469). nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R333H(1) all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAACGGCTAAAAGC 0.393000 6 151 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28195117 28195117 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr22:28195117G>A ENST00000302326.4 - 1 2369 c.1415C>T c.(1414-1416)tCg>tTg p.S472L NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 472 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 GCCGTTCCACGAAGCGCAGCG 0.662000 T ETV6 """AML, meningioma""" 13 6 0 0 1 0 0 KEAP1 9817 broad.mit.edu 37 19 10602630 10602630 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:10602630C>T ENST00000171111.5 - 3 1495 c.948G>A c.(946-948)gtG>gtA p.V316V KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Silent_p.V316V NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 316 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GGCAGGGCATCACCTGCGTGG 0.637000 14 22 0 0 1 0 0 PNMA2 10687 broad.mit.edu 37 8 26365475 26365475 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr8:26365475G>A ENST00000522362.2 - 3 1691 c.797C>T c.(796-798)tCa>tTa p.S266L NM_007257.5 NP_009188.1 Q9UL42 PNMA2_HUMAN paraneoplastic Ma antigen 2 266 apoptosis nucleolus protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3) 11 all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105) UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123) cacataggctgagaccttctc 0.577000 13 18 0 0 1 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112900730 112900730 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:112900730G>A ENST00000374530.3 + 8 3086 c.2906G>A c.(2905-2907)aGg>aAg p.R969K AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000510514.5_Missense_Mutation_p.R969K|AKAP2_ENST00000555236.1_Missense_Mutation_p.R969K|AKAP2_ENST00000434623.2_Missense_Mutation_p.R827K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R969K|AKAP2_ENST00000374525.1_Missense_Mutation_p.R827K|AKAP2_ENST00000259318.7_Missense_Mutation_p.R738K NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 738 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 GAGCTGAAGAGGCAGAGACAA 0.527000 11 45 0 0 1 0 0 PRMT2 3275 broad.mit.edu 37 21 48071832 48071832 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:48071832C>T ENST00000334494.4 + 7 936 c.769C>T c.(769-771)Cat>Tat p.H257Y PRMT2_ENST00000451211.2_Intron|PRMT2_ENST00000397638.2_Intron|PRMT2_ENST00000440086.1_Intron|PRMT2_ENST00000355680.3_Intron|PRMT2_ENST00000291705.6_Intron|PRMT2_ENST00000397637.1_Intron|PRMT2_ENST00000458387.2_Intron NM_001242865.1 NP_001229794.1 P55345 ANM2_HUMAN protein arginine methyltransferase 2 0 Interaction with ESR1. KDYRS -> RIIVA (in Ref. 2; AAB48437). 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) TGTCCCTCTTCATGTCCTCCT 0.612000 22 65 0 0 1 0 0 CAND2 23066 broad.mit.edu 37 3 12859276 12859276 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:12859276G>A ENST00000456430.2 + 10 2886 c.2845G>A c.(2845-2847)Gag>Aag p.E949K CAND2_ENST00000295989.5_Missense_Mutation_p.E856K NM_001162499.1 NP_001155971.1 O75155 CAND2_HUMAN cullin-associated and neddylation-dissociated 2 (putative) 949 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CGAGGGTGCTGAGGAGGGCAC 0.672000 91 57 0 0 1 0 0 SRGAP2-AS1 100873165 broad.mit.edu 37 1 121116648 121116648 + RNA DEL A A - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:121116648delA ENST00000437515.1 - 0 329 NR_104189.1 GCCCCCCTTTAAAAAAAAAGG 0.398 13 181 --- --- --- --- TCHH 7062 broad.mit.edu 37 1 152083818 152083820 + In_Frame_Del DEL CGG CGG - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:152083818_152083820delCGG ENST00000368804.1 - 2 1872_1874 c.1873_1875delCCG c.(1873-1875)ccgdel p.P625del NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 625 9 X 28 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTCTTCCTCCGGCTCCTCGCGC 0.680 8 184 --- --- --- --- DAP3 7818 broad.mit.edu 37 1 155698864 155698867 + Frame_Shift_Del DEL AGAG AGAG - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:155698864_155698867delAGAG ENST00000368336.5 + 8 759_762 c.635_638delAGAG c.(634-639)aagagafs p.KR212fs DAP3_ENST00000421487.2_Frame_Shift_Del_p.KR178fs|DAP3_ENST00000343043.3_Frame_Shift_Del_p.KR212fs|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000471642.2_Frame_Shift_Del_p.KR171fs|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000535183.1_Frame_Shift_Del_p.KR171fs NM_001199849.1|NM_004632.3 NP_001186778.1|NP_004623.1 P51398 RT29_HUMAN death associated protein 3 212 induction of apoptosis by extracellular signals mitochondrial ribosome|nucleolus|small ribosomal subunit protein binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 24 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) GTCTGGAATAAGAGAGAAAGCACT 0.397 9 61 --- --- --- --- IL17RC 84818 broad.mit.edu 37 3 9974358 9974360 + In_Frame_Del DEL TCC TCC - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:9974358_9974360delTCC ENST00000295981.3 + 17 1885_1887 c.1667_1669delTCC c.(1666-1671)atcctc>atc p.L559del IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000413608.1_In_Frame_Del_p.L488del|IL17RC_ENST00000383812.4_In_Frame_Del_p.L473del|IL17RC_ENST00000403601.3_In_Frame_Del_p.L488del|IL17RC_ENST00000455057.1_In_Frame_Del_p.L456del|IL17RC_ENST00000416074.2_In_Frame_Del_p.L327del NM_153461.3 NP_703191 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C 559 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 CTTTCCCTCATCCTCCTTCTCAA 0.591 OREG0015383 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 54 189 --- --- --- --- SCGB3A1 92304 broad.mit.edu 37 5 180017251 180017251 + Frame_Shift_Del DEL C C - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:180017251delC ENST00000292641.3 - 3 372 c.295delG c.(295-297)gccfs p.A99fs NM_052863.2 NP_443095.2 Q96QR1 SG3A1_HUMAN secretoglobin, family 3A, member 1 99 negative regulation of cell growth|regulation of cell proliferation extracellular space cytokine activity large_intestine(1)|lung(2) 3 all_cancers(89;7.5e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00658)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACTGTCAGGGCCCCCTGGAAA 0.697 2 4 --- --- --- --- SYNCRIP 10492 broad.mit.edu 37 6 86349960 86349963 + Frame_Shift_Del DEL TCCT TCCT - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:86349960_86349963delTCCT ENST00000355238.6 - 4 557_560 c.351_354delAGGA c.(349-354)aaaggafs p.KG117fs SYNCRIP_ENST00000369622.3_Frame_Shift_Del_p.KG117fs NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1 NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 117 CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) CCTCATCTGGTCCTTTACTAGAAT 0.348 18 122 --- --- --- --- TMEM200A 114801 broad.mit.edu 37 6 130762134 130762134 + Frame_Shift_Del DEL G G - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:130762134delG ENST00000392429.1 + 2 2945 c.567delG c.(565-567)atgfs p.M189fs TMEM200A_ENST00000296978.3_Frame_Shift_Del_p.M189fs|TMEM200A_ENST00000545622.1_Frame_Shift_Del_p.M189fs NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 189 integral to membrane p.M189I(2) NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) CTGGTTTGATGGGAGAAACAG 0.448 9 60 --- --- --- --- PDE10A 10846 broad.mit.edu 37 6 165806238 165806240 + In_Frame_Del DEL TTC TTC - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:165806238_165806240delTTC ENST00000366882.1 - 17 1675_1677 c.1521_1523delGAA c.(1519-1524)aagaac>aac p.K507del PDE10A_ENST00000539869.2_In_Frame_Del_p.K517del|PDE10A_ENST00000354448.4_In_Frame_Del_p.K507del Q9Y233 PDE10_HUMAN phosphodiesterase 10A 507 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) CCGCCGATAGTTCTTCTTCACAG 0.409 14 96 --- --- --- --- DLX6 1750 broad.mit.edu 37 7 96635545 96635547 + In_Frame_Del DEL CAC CAC - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:96635545_96635547delCAC ENST00000518156.2 + 1 686_688 c.256_258delCAC c.(256-258)cacdel p.H91del DLX6_ENST00000007660.5_In_Frame_Del_p.H63del|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000437541.1_RNA P56179 DLX6_HUMAN distal-less homeobox 6 0 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) GGCCGGCTCGcaccaccaccacc 0.729 3 6 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149515189 149515189 + RNA DEL A A - rs112122477 TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:149515189delA ENST00000378016.2 + 0 11577 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GACCTCGAGTAACTGCCCCAG 0.667 4 7 --- --- --- --- KANK1 23189 broad.mit.edu 37 9 713382 713383 + Frame_Shift_Del DEL TA TA - rs144413163 TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:713382_713383delTA ENST00000382303.1 + 7 3268_3269 c.2616_2617delTA c.(2614-2619)tctatcfs p.I873fs KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Frame_Shift_Del_p.I873fs|KANK1_ENST00000382293.3_Frame_Shift_Del_p.I715fs NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 873 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) CCCTGTCGTCTATCAACTCTGT 0.515 29 58 --- --- --- --- DDX58 23586 broad.mit.edu 37 9 32487490 32487493 + Frame_Shift_Del DEL CTTG CTTG - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:32487490_32487493delCTTG ENST00000379882.1 - 8 1373_1376 c.1216_1219delCAAG c.(1216-1221)caagttfs p.QV406fs DDX58_ENST00000379883.2_Frame_Shift_Del_p.QV451fs|DDX58_ENST00000545044.1_Frame_Shift_Del_p.QV248fs|DDX58_ENST00000542096.1_Frame_Shift_Del_p.QV380fs|DDX58_ENST00000379868.1_Frame_Shift_Del_p.QV248fs O95786 DDX58_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 451 Helicase ATP-binding. detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;0.00056) TTATAAACAACTTGCTCCAGTTCC 0.422 8 91 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546732 11546733 + In_Frame_Ins INS - - AGA TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:11546732_11546733insAGA ENST00000389362.4 - 3 314_315 c.279_280insTCT c.(277-282)ccacct>ccaTCTcct p.93_94PP>PSP PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTTCCTGGAGGTGGGGGACCTT 0.614 12 683 --- --- --- --- LTB4R2 56413 broad.mit.edu 37 14 24780721 24780722 + Frame_Shift_Ins INS - - C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:24780721_24780722insC ENST00000528054.1 + 1 2561_2562 c.944_945insC c.(943-948)aacccgfs p.NP315fs LTB4R_ENST00000345363.3_5'UTR|LTB4R2_ENST00000533293.1_Frame_Shift_Ins_p.NP284fs|LTB4R2_ENST00000543919.1_Frame_Shift_Ins_p.NP284fs Q9NPC1 LT4R2_HUMAN leukotriene B4 receptor 2 315 chemotaxis|negative regulation of adenylate cyclase activity integral to plasma membrane endometrium(1)|lung(1)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.018) TCTAGCGTCAACCCGGTGCTCT 0.698 21 54 --- --- --- --- NPTN 27020 broad.mit.edu 37 15 73866075 73866080 + In_Frame_Del DEL AGTGGC AGTGGC - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:73866075_73866080delAGTGGC ENST00000351217.6 - 4 1333_1338 c.415_420delGCCACT c.(415-420)gccactdel p.AT139del NPTN_ENST00000562924.1_In_Frame_Del_p.AT139del|NPTN_ENST00000345330.4_In_Frame_Del_p.AT255del|NPTN_ENST00000564551.1_5'UTR|NPTN_ENST00000563691.1_In_Frame_Del_p.AT255del|NPTN_ENST00000545878.1_In_Frame_Del_p.AT255del|NPTN_ENST00000287226.8_In_Frame_Del_p.AT255del|NPTN_ENST00000542234.1_In_Frame_Del_p.AT50del NM_001161364.1|NM_017455.3 NP_001154836.1|NP_059429.1 Q9Y639 NPTN_HUMAN neuroplastin 255 elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation integral to membrane|plasma membrane|presynaptic membrane cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 13 TGCAATACATAGTGGCATCCTGCCCT 0.549 26 96 --- --- --- --- ITGAL 3683 broad.mit.edu 37 16 30531249 30531251 + In_Frame_Del DEL GCT GCT - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:30531249_30531251delGCT ENST00000356798.6 + 30 3480_3482 c.3300_3302delGCT c.(3298-3303)gggctg>ggg p.L1106del ITGAL_ENST00000433423.2_In_Frame_Del_p.L340del|ITGAL_ENST00000358164.5_In_Frame_Del_p.L1022del NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 1106 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GCATCGGGGGGCTGCTGCTGCTG 0.601 12 719 --- --- --- --- SRCAP 10847 broad.mit.edu 37 16 30736314 30736314 + Frame_Shift_Del DEL C C - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:30736314delC ENST00000262518.4 + 25 5954 c.5569delC c.(5569-5571)cccfs p.P1858fs SRCAP_ENST00000344771.4_Frame_Shift_Del_p.P1700fs|SRCAP_ENST00000395059.2_Frame_Shift_Del_p.P1796fs NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1858 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GCGCTCTGGTCCCCCCAGCCC 0.612 7 972 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20243404 20243405 + RNA DEL AC AC - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:20243404_20243405delAC ENST00000590606.1 - 0 188 CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA TCCCTGGAAAACACACACACAC 0.411 7 147 --- --- --- --- A1BG 1 broad.mit.edu 37 19 58864380 58864381 + Frame_Shift_Del DEL CC CC - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:58864380_58864381delCC ENST00000263100.3 - 3 314_315 c.253_254delGG c.(253-255)ggtfs p.G85fs A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600686.1_RNA NM_130786.3 NP_570602.2 P04217 A1BG_HUMAN alpha-1-B glycoprotein 85 Ig-like V-type 1. extracellular region NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2) 15 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) CTGGGTGTCACCCGTCAGCAGG 0.634 16 67 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994844 140994846 + In_Frame_Del DEL CCT CCT - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chrX:140994844_140994846delCCT ENST00000285879.4 + 4 1940_1942 c.1654_1656delCCT c.(1654-1656)cctdel p.P553del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 553 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCAGAGCCCTCCTCAGGGGG 0.567 HNSCC(15;0.026) 7 344 --- --- --- ---