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 MAP2 4133 broad.mit.edu 37 2 210588337 210588337 + Nonsense_Mutation SNP A A T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr2:210588337A>T ENST00000199940.6 + 12 1635 c.1195A>T c.(1195-1197)Aag>Tag p.K399* MAP2_ENST00000392194.1_Intron|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000360351.4_Intron|MAP2_ENST00000447185.1_Intron|MAP2_ENST00000361559.4_Intron NM_001039538.1 NP_001034627.1 P11137 MAP2_HUMAN microtubule-associated protein 2 1674 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TTTAAACAAGAAGATCGATTT 0.403000 7 51 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107576453 107576453 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr9:107576453G>A ENST00000374736.3 - 27 4241 c.3847C>T c.(3847-3849)Cgc>Tgc p.R1283C NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1283 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GTGAACGGGCGAAGACAGCTC 0.463000 16 79 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113208209 113208209 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr9:113208209C>T ENST00000401783.2 - 26 4707 c.4371G>A c.(4369-4371)atG>atA p.M1457I SVEP1_ENST00000374469.1_Missense_Mutation_p.M1434I|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.M1457I NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1457 Pentaxin. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CAGAGGATTTCATCCAGAAGG 0.453000 14 102 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31282333 31282333 + Silent SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr16:31282333C>T ENST00000544665.3 + 6 557 c.486C>T c.(484-486)atC>atT p.I162I ITGAM_ENST00000287497.8_Silent_p.I162I NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 162 VWFA. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 GTAGCATCATCCCACATGACT 0.468000 30 189 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994837 140994837 + Silent SNP T T A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chrX:140994837T>A ENST00000285879.4 + 4 1933 c.1647T>A c.(1645-1647)ccT>ccA p.P549P MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 549 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) ACTACTTTCCTCAGAGCCCTC 0.552000 HNSCC(15;0.026) 45 346 0 0 1 0 0 NELFE 7936 broad.mit.edu 37 6 31922132 31922132 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr6:31922132C>T ENST00000375429.3 - 8 1056 c.830G>A c.(829-831)cGt>cAt p.R277H NELFE_ENST00000375425.5_Missense_Mutation_p.R284H|NELFE_ENST00000444811.2_Missense_Mutation_p.R247H NM_002904.5 NP_002895.3 negative elongation factor complex member E GAAGGCCCCACGGAGAAGGGT 0.512000 12 96 0 0 1 0 0 MUSK 4593 broad.mit.edu 37 9 113562624 113562624 + Missense_Mutation SNP G G C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr9:113562624G>C ENST00000416899.2 + 13 2068 c.1942G>C c.(1942-1944)Gaa>Caa p.E648Q MUSK_ENST00000189978.5_Missense_Mutation_p.E656Q|MUSK_ENST00000374448.4_Missense_Mutation_p.E656Q O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 656 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 CCTGCTCTTTGAATACATGGC 0.507000 5 213 0 0 1 0 0 AKAP4 8852 broad.mit.edu 37 X 49957067 49957067 + Missense_Mutation SNP G G C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chrX:49957067G>C ENST00000376056.2 - 5 2420 c.2270C>G c.(2269-2271)tCt>tGt p.S757C AKAP4_ENST00000376058.2_Missense_Mutation_p.S383C|AKAP4_ENST00000358526.2_Missense_Mutation_p.S766C|AKAP4_ENST00000376064.3_Missense_Mutation_p.S757C|AKAP4_ENST00000481402.1_5'UTR Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 766 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) GCTATTTGTAGAGCACTGATT 0.478000 5 24 0 0 1 0 0 CCT5 22948 broad.mit.edu 37 5 10250483 10250483 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr5:10250483G>A ENST00000280326.4 + 1 451 c.31G>A c.(31-33)Gaa>Aaa p.E11K CCT5_ENST00000515390.1_Missense_Mutation_p.E11K|CCT5_ENST00000503026.1_Intron NM_012073.3 NP_036205.1 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 11 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2) 26 CGCCTTCGATGAATATGGGCG 0.587000 10 67 0 0 1 0 0 GALC 2581 broad.mit.edu 37 14 88429779 88429779 + Silent SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr14:88429779G>A ENST00000261304.2 - 10 1216 c.1110C>T c.(1108-1110)taC>taT p.Y370Y GALC_ENST00000393568.4_Silent_p.Y347Y|GALC_ENST00000393569.2_Silent_p.Y344Y|GALC_ENST00000544807.2_Silent_p.Y314Y NM_000153.3|NM_001201401.1 NP_000144.2|NP_001188330.1 P54803 GALC_HUMAN galactosylceramidase 370 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 TCAGAGCTACGTAGCTTCCTC 0.403000 32 61 0 0 1 0 0 WWP2 11060 broad.mit.edu 37 16 69833085 69833085 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr16:69833085C>T ENST00000359154.2 + 4 328 c.227C>T c.(226-228)aCg>aTg p.T76M WWP2_ENST00000448661.1_Missense_Mutation_p.T76M|WWP2_ENST00000356003.2_Missense_Mutation_p.T76M|WWP2_ENST00000569174.1_Missense_Mutation_p.T76M|WWP2_ENST00000544162.1_3'UTR NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 76 C2. entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGGAATGTCACGGCACAGAGT 0.408000 OREG0023909 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 101 0 0 1 0 0 SLC10A5 347051 broad.mit.edu 37 8 82606749 82606749 + Missense_Mutation SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr8:82606749C>G ENST00000518568.1 - 1 1660 c.459G>C c.(457-459)ttG>ttC p.L153F NM_001010893.2 NP_001010893.1 Q5PT55 NTCP5_HUMAN solute carrier family 10, member 5 153 integral to membrane bile acid:sodium symporter activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5) 15 CACACTTATTCAATAGTATTA 0.353000 36 132 0 0 1 0 0 DPY19L1 23333 broad.mit.edu 37 7 35009117 35009117 + Silent SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr7:35009117C>T ENST00000310974.4 - 9 867 c.723G>A c.(721-723)ttG>ttA p.L241L DPY19L1_ENST00000462134.2_5'UTR NM_015283.1 NP_056098.1 Q2PZI1 D19L1_HUMAN dpy-19-like 1 (C. elegans) 241 integral to membrane endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 31 AGAGTGCAATCAAGCTTCCTC 0.353000 16 46 0 0 1 0 0 HERC2P4 100289574 broad.mit.edu 37 16 32163490 32163490 + RNA SNP A A G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr16:32163490A>G ENST00000564145.1 - 0 65 AGAGAACTGCACGGTGATTTT 0.527000 16 121 0 0 1 0 0 OR52I2 143502 broad.mit.edu 37 11 4609034 4609034 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr11:4609034G>A ENST00000312614.4 + 1 1014 c.992G>A c.(991-993)cGg>cAg p.R331Q NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 331 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R331L(1) 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) AAACAACTGCGGGAGAGAATA 0.473000 32 175 0 0 1 0 0 CACNG4 27092 broad.mit.edu 37 17 65026756 65026756 + Missense_Mutation SNP T T C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr17:65026756T>C ENST00000262138.3 + 4 622 c.620T>C c.(619-621)aTt>aCt p.I207T NM_014405.3 NP_055220.1 Q9UBN1 CCG4_HUMAN calcium channel, voltage-dependent, gamma subunit 4 207 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) AACATTTACATTGAGAAAAAT 0.458000 45 103 0 0 1 0 0 DUOXA2 405753 broad.mit.edu 37 15 45410062 45410062 + Silent SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr15:45410062G>A ENST00000323030.5 + 6 1203 c.918G>A c.(916-918)aaG>aaA p.K306K DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000559014.1_Intron|DUOXA1_ENST00000430224.2_Intron|DUOXA1_ENST00000267803.4_Intron NM_207581.3 NP_997464.2 Q1HG44 DOXA2_HUMAN dual oxidase maturation factor 2 306 protein transport endoplasmic reticulum membrane|integral to membrane all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659) CACTGCACAAGCAGGCCGCTC 0.612000 OREG0023102 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 83 0 0 1 0 0 POC1A 25886 broad.mit.edu 37 3 52183327 52183327 + Silent SNP G G A rs150866318 byFrequency TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr3:52183327G>A ENST00000394970.2 - 4 671 c.354C>T c.(352-354)ttC>ttT p.F118F POC1A_ENST00000296484.2_Silent_p.F118F|POC1A_ENST00000474012.1_Silent_p.F80F NM_001161580.1 NP_001155052.1 Q8NBT0 POC1A_HUMAN POC1 centriolar protein A 118 centriole|microtubule basal body endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1) 14 AGGCTGTCACGAAGGACTGGC 0.537000 33 68 0 0 1 0 0 PTER 9317 broad.mit.edu 37 10 16526539 16526539 + Silent SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr10:16526539C>T ENST00000378000.1 + 3 402 c.156C>T c.(154-156)atC>atT p.I52I PTER_ENST00000423462.2_Silent_p.I52I|PTER_ENST00000298942.3_Silent_p.I52I|PTER_ENST00000535784.2_Silent_p.I52I NM_001001484.2|NM_001261838.1|NM_030664.4 NP_001001484.1|NP_001248767.1|NP_109589.2 Q96BW5 PTER_HUMAN phosphotriesterase related 52 catabolic process hydrolase activity, acting on ester bonds|zinc ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2) 15 AAGAACCTATCGTGATGAAAA 0.438000 7 94 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135173682 135173682 + Nonsense_Mutation SNP C C A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr9:135173682C>A ENST00000372169.2 - 13 5748 c.5566G>T c.(5566-5568)Gag>Tag p.E1856* SETX_ENST00000224140.5_Nonsense_Mutation_p.E1856*|SETX_ENST00000393220.1_Nonsense_Mutation_p.E1856* Q7Z333 SETX_HUMAN senataxin 1856 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) AGGTAACACTCAGTTTTCCCA 0.373000 59 88 6.83704e-37 7.71118e-37 1 1 0 ISCA1 81689 broad.mit.edu 37 9 88881057 88881057 + Silent SNP T T C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr9:88881057T>C ENST00000375991.4 - 4 361 c.291A>G c.(289-291)acA>acG p.T97T ISCA1_ENST00000311534.6_5'UTR|ISCA1_ENST00000452279.2_Silent_p.T144T NM_030940.3 NP_112202.2 Q9BUE6 ISCA1_HUMAN iron-sulfur cluster assembly 1 97 iron-sulfur cluster assembly mitochondrion iron-sulfur cluster binding|metal ion binding|structural molecule activity endometrium(2)|large_intestine(1)|lung(4)|pancreas(1) 8 OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375) AGTCCATTTCTGTTCCTAAAA 0.383000 28 244 0 0 1 0 0 LOC101927905 101927905 broad.mit.edu 37 12 8391292 8391292 + RNA SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr12:8391292G>A ENST00000304751.9 + 0 585 FAM86FP_ENST00000427893.2_RNA AGAAAGCACCGGGCATACTTG 0.562000 5 78 0 0 1 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44609924 44609924 + Splice_Site SNP G G C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr3:44609924G>C ENST00000273320.3 + 5 1239 c.811_splice c.e5+1 p.L270_splice ZKSCAN7_ENST00000341840.3_Splice_Site_p.L270_splice|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Splice_Site_p.L270_splice|ZKSCAN7_ENST00000431636.1_Splice_Site_p.L270_splice NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 TGGCCTCCTTGGGTAATGATT 0.403000 18 50 0 0 1 0 0 FAM186B 84070 broad.mit.edu 37 12 49994396 49994396 + Missense_Mutation SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr12:49994396C>G ENST00000544141.1 - 4 1356 c.757G>C c.(757-759)Gag>Cag p.E253Q PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000257894.2_Missense_Mutation_p.E343Q Q8IYM0 F186B_HUMAN family with sequence similarity 186, member B 343 protein complex breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GTCTCTCTCTCAGAGGGACCT 0.542000 22 191 0 0 1 0 0 DHRS9 10170 broad.mit.edu 37 2 169938254 169938254 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr2:169938254C>T ENST00000327239.4 + 5 1667 c.163C>T c.(163-165)Cat>Tat p.H55Y DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000412271.1_Missense_Mutation_p.H55Y|DHRS9_ENST00000357546.2_Missense_Mutation_p.H55Y|DHRS9_ENST00000428522.1_Missense_Mutation_p.H55Y|DHRS9_ENST00000436483.2_Missense_Mutation_p.H55Y|DHRS9_ENST00000602501.1_Missense_Mutation_p.H55Y|DHRS9_ENST00000432060.2_Missense_Mutation_p.H115Y NM_005771.4 NP_005762.2 Q9BPW9 DHRS9_HUMAN dehydrogenase/reductase (SDR family) member 9 55 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 AAAGGGATTTCATGTAATCGC 0.428000 5 91 0 0 1 0 0 LRTM1 57408 broad.mit.edu 37 3 54952906 54952906 + Missense_Mutation SNP G G C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr3:54952906G>C ENST00000273286.5 - 3 780 c.618C>G c.(616-618)gaC>gaG p.D206E LRTM1_ENST00000493075.1_Missense_Mutation_p.D130E|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 206 LRRCT. integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) AGATGATGCCGTCTGTTAGTC 0.473000 15 27 0 0 1 0 0 DNLZ 728489 broad.mit.edu 37 9 139256512 139256512 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr9:139256512C>T ENST00000371739.3 - 2 353 c.349G>A c.(349-351)Ggg>Agg p.G117R DNLZ_ENST00000371738.3_Silent_p.A163A Q5SXM8 DNLZ_HUMAN DNL-type zinc finger 0 metal ion binding central_nervous_system(1)|prostate(1) 2 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06) CATCCTCACCCGCTTCCGGAG 0.692000 3 21 0 0 1 0 0 PLEKHS1 79949 broad.mit.edu 37 10 115536953 115536953 + Missense_Mutation SNP A A G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr10:115536953A>G ENST00000354462.3 + 5 510 c.352A>G c.(352-354)Aat>Gat p.N118D PLEKHS1_ENST00000369312.4_Missense_Mutation_p.N286D|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.N202D|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.N368D|PLEKHS1_ENST00000361048.1_Intron pleckstrin homology domain containing, family S member 1 TCTGGCAGTGAATGACCTGAA 0.537000 6 34 0 0 1 0 0 GRIP2 80852 broad.mit.edu 37 3 14564568 14564568 + RNA SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr3:14564568C>G ENST00000273083.3 - 0 570 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 TTGTGCCCATCTTCATGGGCA 0.617000 11 86 0 0 1 0 0 MYH10 4628 broad.mit.edu 37 17 8526300 8526300 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr17:8526300C>T ENST00000360416.3 - 2 403 c.265G>A c.(265-267)Gat>Aat p.D89N MYH10_ENST00000396239.1_Missense_Mutation_p.D89N|MYH10_ENST00000269243.4_Missense_Mutation_p.D89N|MYH10_ENST00000379980.4_Missense_Mutation_p.D89N NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 89 Myosin head-like. 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 TCTGCCATATCCTCCACCTTG 0.378000 43 158 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54817504 54817504 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chrX:54817504C>T ENST00000218436.6 - 4 411 c.382G>A c.(382-384)Gag>Aag p.E128K NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 128 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity CGGAACTTCTCTGATTCCCGG 0.582000 3 32 0 0 1 0 0 ATP2B4 493 broad.mit.edu 37 1 203668809 203668809 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr1:203668809G>A ENST00000357681.5 + 4 1736 c.613G>A c.(613-615)Gag>Aag p.E205K ATP2B4_ENST00000367218.3_Missense_Mutation_p.E205K|ATP2B4_ENST00000391954.2_Missense_Mutation_p.E205K|ATP2B4_ENST00000341360.2_Missense_Mutation_p.E205K|ATP2B4_ENST00000367219.3_Missense_Mutation_p.E205K NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 205 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CCCTGTGGCTGAGATTGTGGT 0.512000 87 159 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 368169 368169 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr9:368169G>A ENST00000382329.1 + 2 454 c.67G>A c.(67-69)Ggg>Agg p.G23R DOCK8_ENST00000432829.2_Intron|DOCK8_ENST00000469391.1_Intron|DOCK8_ENST00000453981.1_Intron|DOCK8_ENST00000382331.1_Intron Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 0 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CCTCAAATCAGGGTGGGCTGC 0.498000 18 89 0 0 1 0 0 FBXO4 26272 broad.mit.edu 37 5 41927222 41927222 + Missense_Mutation SNP G G C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr5:41927222G>C ENST00000296812.2 + 2 353 c.297G>C c.(295-297)tgG>tgC p.W99C FBXO4_ENST00000281623.3_Missense_Mutation_p.W99C|FBXO4_ENST00000509134.1_Missense_Mutation_p.W99C NM_033484.2 NP_277019.1 Q9UKT5 FBX4_HUMAN F-box protein 4 99 F-box. positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2) 27 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) CAATTCTGTGGAGATACTTTT 0.373000 26 102 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3779447 3779447 + Silent SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr16:3779447C>T ENST00000262367.5 - 31 6410 c.5601G>A c.(5599-5601)cgG>cgA p.R1867R CREBBP_ENST00000382070.3_Silent_p.R1829R NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1867 Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TGGCCATCCGCCGGCGCATGA 0.637000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 13 71 0 0 1 0 0 MME 4311 broad.mit.edu 37 3 154834708 154834708 + Missense_Mutation SNP G G C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr3:154834708G>C ENST00000460393.1 + 7 707 c.587G>C c.(586-588)gGg>gCg p.G196A MME_ENST00000360490.2_Missense_Mutation_p.G196A|MME_ENST00000493237.1_Missense_Mutation_p.G196A|MME_ENST00000492661.1_Missense_Mutation_p.G196A|MME_ENST00000462745.1_Missense_Mutation_p.G196A NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 196 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TCTAAATATGGGAAAAAAGTC 0.299000 15 87 0 0 1 0 0 HBM 3042 broad.mit.edu 37 16 216068 216068 + Silent SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr16:216068C>T ENST00000356815.3 + 1 92 c.72C>T c.(70-72)ttC>ttT p.F24F HBM_ENST00000472539.1_Intron NM_001003938.3 NP_001003938.1 Q6B0K9 HBM_HUMAN hemoglobin, mu 24 hemoglobin complex heme binding|oxygen binding|oxygen transporter activity all_cancers(16;1.62e-06)|all_epithelial(16;4.01e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) AGGCGCAATTCGGGGCGGAGC 0.701000 9 13 0 0 1 0 0 PPY 5539 broad.mit.edu 37 17 42019013 42019013 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr17:42019013C>T ENST00000591228.1 - 2 97 c.10G>A c.(10-12)Gca>Aca p.A4T PPY_ENST00000225992.3_Missense_Mutation_p.A4T|PPY_ENST00000587006.1_Missense_Mutation_p.A4T P01298 PAHO_HUMAN pancreatic polypeptide 4 digestion|protein secretion extracellular region hormone activity large_intestine(2)|lung(1)|skin(1) 4 Breast(137;0.00314)|Prostate(33;0.0724) BRCA - Breast invasive adenocarcinoma(366;0.113) CAGAGGCGTGCGGCAGCCATC 0.657000 5 25 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53588762 53588762 + Missense_Mutation SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chrX:53588762C>G ENST00000342160.3 - 54 7919 c.7462G>C c.(7462-7464)Gag>Cag p.E2488Q HUWE1_ENST00000262854.6_Missense_Mutation_p.E2488Q Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 2488 Asp-rich. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 AGATCATCCTCCCGGTCAAAG 0.458000 5 81 0 0 1 0 0 BAZ2A 11176 broad.mit.edu 37 12 56993130 56993130 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr12:56993130C>T ENST00000179765.5 - 28 5294 c.5095G>A c.(5095-5097)Gaa>Aaa p.E1699K BAZ2A_ENST00000551812.1_Missense_Mutation_p.E1731K|BAZ2A_ENST00000549884.1_Missense_Mutation_p.E1729K|BAZ2A_ENST00000379441.3_Missense_Mutation_p.E1701K Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 1731 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 TGAGTGAATTCTCCCTCCACC 0.502000 5 33 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 939275 939275 + Silent SNP T T C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr12:939275T>C ENST00000537687.1 + 4 1903 c.1260T>C c.(1258-1260)taT>taC p.Y420Y WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000535572.1_Silent_p.Y420Y|WNK1_ENST00000530271.2_Silent_p.Y420Y|WNK1_ENST00000315939.6_Silent_p.Y420Y NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 420 Protein kinase. intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CATCTGAATATCCTTACTCGG 0.453000 5 109 0 0 1 0 0 SEL1L2 80343 broad.mit.edu 37 20 13912405 13912405 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr20:13912405C>T ENST00000284951.5 - 3 201 c.127G>A c.(127-129)Gaa>Aaa p.E43K SEL1L2_ENST00000378072.5_Missense_Mutation_p.E43K|SEL1L2_ENST00000486903.1_5'UTR Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 43 integral to membrane binding p.E43K(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 TGTTTGATTTCGTTCACTGAT 0.289000 5 140 0 0 1 0 0 COL25A1 84570 broad.mit.edu 37 4 109861734 109861734 + Silent SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr4:109861734G>A ENST00000399132.1 - 10 1163 c.633C>T c.(631-633)gaC>gaT p.D211D COL25A1_ENST00000399126.1_Silent_p.D211D|COL25A1_ENST00000399127.1_Silent_p.D207D NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 211 Collagen-like 2. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CTTTCCCTGTGTCCCCAGGTG 0.572000 11 96 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57480832 57480832 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr1:57480832C>T ENST00000371236.2 - 12 1431 c.1168G>A c.(1168-1170)Gtc>Atc p.V390I DAB1_ENST00000414851.2_Missense_Mutation_p.V372I|DAB1_ENST00000439789.2_Missense_Mutation_p.V304I|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Missense_Mutation_p.V423I|DAB1_ENST00000371234.4_Missense_Mutation_p.V390I|DAB1_ENST00000420954.2_Missense_Mutation_p.V388I O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 423 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GTGCCTGGGACGGTGGCAAGG 0.587000 13 57 0 0 1 0 0 CHML 1122 broad.mit.edu 37 1 241797719 241797719 + Silent SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr1:241797719C>T ENST00000366553.1 - 1 1513 c.1350G>A c.(1348-1350)caG>caA p.Q450Q OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron NM_001821.3 NP_001812.2 P26374 RAE2_HUMAN choroideremia-like (Rab escort protein 2) 450 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) TCTGCTTATACTGCACATTTG 0.368000 4 163 0 0 1 0 0 POLK 51426 broad.mit.edu 37 5 74892236 74892236 + Nonsense_Mutation SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr5:74892236C>G ENST00000241436.4 + 13 1890 c.1718C>G c.(1717-1719)tCa>tGa p.S573* POLK_ENST00000508526.1_Nonsense_Mutation_p.S375*|POLK_ENST00000380481.3_Nonsense_Mutation_p.S483*|POLK_ENST00000352007.5_Nonsense_Mutation_p.S375*|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Intron NM_016218.2 NP_057302.1 Q9UBT6 POLK_HUMAN polymerase (DNA directed) kappa 573 DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 27 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) AAAAAACGATCAGAAAGGAAA 0.343000 DNA polymerases (catalytic subunits) 4 58 0 0 1 0 0 SMARCD3 6604 broad.mit.edu 37 7 150939642 150939642 + Silent SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr7:150939642C>T ENST00000392811.2 - 6 939 c.465G>A c.(463-465)gcG>gcA p.A155A SMARCD3_ENST00000262188.8_Silent_p.A168A|SMARCD3_ENST00000356800.2_Silent_p.A155A|SMARCD3_ENST00000477169.1_5'UTR NM_003078.3 NP_003069.2 Q6STE5 SMRD3_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 168 cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding p.A155A(3)|p.A168A(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2) 15 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CATCAGGCTTCGCAGGGTTAA 0.577000 65 132 0 0 1 0 0 LACC1 144811 broad.mit.edu 37 13 44455407 44455407 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr13:44455407G>A ENST00000441843.1 + 2 771 c.286G>A c.(286-288)Gat>Aat p.D96N LACC1_ENST00000325686.6_Missense_Mutation_p.D96N NM_001128303.1 NP_001121775.1 Q8IV20 CM031_HUMAN laccase (multicopper oxidoreductase) domain containing 1 96 ACAGAAAATTGATGAAAAAAA 0.353000 4 68 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196877574 196877574 + Missense_Mutation SNP A A T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr2:196877574A>T ENST00000312428.6 - 10 1026 c.926T>A c.(925-927)cTg>cAg p.L309Q DNAH7_ENST00000410072.1_Missense_Mutation_p.L309Q NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 309 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AAAACTTGACAGCTCTAATGC 0.299000 4 90 0 0 1 0 0 HBD 3045 broad.mit.edu 37 11 5255647 5255647 + Missense_Mutation SNP G G C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr11:5255647G>C ENST00000380299.3 - 1 231 c.17C>G c.(16-18)cCt>cGt p.P6R HBD_ENST00000292901.3_Missense_Mutation_p.P6R NM_000519.3 NP_000510.1 P02042 HBD_HUMAN hemoglobin, delta 6 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 16 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTTCTCCTCAGGAGTCAGATG 0.502000 18 58 0 0 1 0 0 MTMR3 8897 broad.mit.edu 37 22 30405007 30405007 + Splice_Site SNP A A G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr22:30405007A>G ENST00000333027.3 + 12 1338 c.1009_splice c.e12-1 p.E337_splice MTMR3_ENST00000323630.5_Splice_Site_p.E201_splice|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Splice_Site_p.E337_splice|MTMR3_ENST00000401950.2_Splice_Site_p.E337_splice|MTMR3_ENST00000351488.3_Splice_Site_p.E337_splice NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 337 Myotubularin phosphatase. phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) CTCTCTCCAGAGTATTACCCA 0.418000 16 83 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42477204 42477204 + Silent SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr17:42477204C>T ENST00000434000.1 - 9 2289 c.2007G>A c.(2005-2007)agG>agA p.R669R GPATCH8_ENST00000591680.1_Silent_p.R747R Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 747 Lys-rich. intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GAGCTCTCCGCCTTCTTCTTG 0.567000 10 112 0 0 1 0 0 PRKAB2 5565 broad.mit.edu 37 1 146639425 146639425 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr1:146639425G>A ENST00000254101.3 - 3 382 c.244C>T c.(244-246)Cgc>Tgc p.R82C PRKAB2_ENST00000425272.2_Intron NM_005399.3 NP_005390.1 O43741 AAKB2_HUMAN protein kinase, AMP-activated, beta 2 non-catalytic subunit 82 carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 all_hematologic(923;0.0487) Adenosine monophosphate(DB00131) TCAGACCAGCGGATAACAGTG 0.517000 48 201 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7709343 7709343 + Missense_Mutation SNP A A G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr5:7709343A>G ENST00000338316.4 + 10 1510 c.1421A>G c.(1420-1422)cAg>cGg p.Q474R ADCY2_ENST00000537121.1_Missense_Mutation_p.Q294R|RP11-711G10.1_ENST00000514105.2_RNA NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 474 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 CGGAGCCCCCAGCATCTCTTC 0.582000 5 68 0 0 1 0 0 PRMT5 10419 broad.mit.edu 37 14 23393710 23393710 + Missense_Mutation SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr14:23393710C>G ENST00000324366.8 - 10 1277 c.1054G>C c.(1054-1056)Gag>Cag p.E352Q PRMT5_ENST00000216350.8_Missense_Mutation_p.E291Q|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.E181Q|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.E246Q|PRMT5_ENST00000553897.1_Missense_Mutation_p.E308Q|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.E335Q NM_006109.3 NP_006100.2 O14744 ANM5_HUMAN protein arginine methyltransferase 5 352 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 25 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) TCCTTCTCCTCTTCTGGTACT 0.493000 11 112 0 0 1 0 0 GLTPD1 80772 broad.mit.edu 37 1 1262674 1262674 + Missense_Mutation SNP C C A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr1:1262674C>A ENST00000343938.4 + 3 587 c.176C>A c.(175-177)tCc>tAc p.S59Y GLTPD1_ENST00000464957.1_3'UTR NM_001029885.1 NP_001025056.1 Q5TA50 GLTD1_HUMAN glycolipid transfer protein domain containing 1 59 cytoplasm glycolipid binding|glycolipid transporter activity lung(1) 1 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GACGTGGTCTCCAAGCTGCGG 0.662000 15 52 1.5739e-10 1.72779e-10 1 1 0 MSH3 4437 broad.mit.edu 37 5 80057395 80057395 + Silent SNP G G A rs61753791 byFrequency TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr5:80057395G>A ENST00000265081.6 + 13 1874 c.1794G>A c.(1792-1794)tcG>tcA p.S598S MSH3_ENST00000512258.1_3'UTR NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 598 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) ATGCTGTATCGGAAGTTCTCC 0.378000 Mismatch excision repair (MMR) 4 108 0 0 1 0 0 BAG5 9529 broad.mit.edu 37 14 104026872 104026872 + Missense_Mutation SNP A A C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr14:104026872A>C ENST00000445922.2 - 2 876 c.630T>G c.(628-630)aaT>aaG p.N210K RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000337322.4_Missense_Mutation_p.N251K|BAG5_ENST00000299204.4_Missense_Mutation_p.N210K NM_004873.3 NP_004864.1 Q9UL15 BAG5_HUMAN BCL2-associated athanogene 5 210 BAG 3. apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly inclusion body|perinuclear region of cytoplasm chaperone binding|ubiquitin protein ligase binding endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 24 Melanoma(154;0.155) Epithelial(46;0.144) TGCAGGTCTCATTGTTGTTCA 0.527000 36 94 0 0 1 0 0 SLC5A4 6527 broad.mit.edu 37 22 32651253 32651253 + Missense_Mutation SNP G G C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr22:32651253G>C ENST00000266086.4 - 1 75 c.64C>G c.(64-66)Cac>Gac p.H22D RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 22 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TTTCGGATGTGGTCAGACAAT 0.542000 OREG0003502 type=REGULATORY REGION|Gene=SLC5A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 44 183 0 0 1 0 0 NKPD1 284353 broad.mit.edu 37 19 45655798 45655798 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr19:45655798C>T ENST00000317951.4 - 4 1896 c.1897G>A c.(1897-1899)Gtg>Atg p.V633M NKPD1_ENST00000438936.2_Missense_Mutation_p.V411M|NKPD1_ENST00000589776.1_Missense_Mutation_p.V411M|NKPD1_ENST00000429338.1_Missense_Mutation_p.V411M NM_198478.3 NP_940880.3 NTPase, KAP family P-loop domain containing 1 endometrium(1)|lung(4)|prostate(2)|urinary_tract(1) 8 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) AGCAGGCGCACGGTGATGGGC 0.697000 3 30 0 0 1 0 0 KIAA1377 57562 broad.mit.edu 37 11 101833080 101833080 + Missense_Mutation SNP G G C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr11:101833080G>C ENST00000263468.8 + 6 1584 c.1314G>C c.(1312-1314)gaG>gaC p.E438D KIAA1377_ENST00000537689.1_Missense_Mutation_p.E239D NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 438 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) CAGACCAAGAGAAATATTCTG 0.378000 5 82 0 0 1 0 0 UBL7 84993 broad.mit.edu 37 15 74741683 74741683 + Silent SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr15:74741683G>A ENST00000567435.1 - 9 1189 c.726C>T c.(724-726)tcC>tcT p.S242S UBL7_ENST00000395081.2_Silent_p.S242S|UBL7_ENST00000361351.4_Silent_p.S242S|UBL7_ENST00000564488.1_Silent_p.S242S|UBL7_ENST00000565335.1_Silent_p.S242S Q96S82 UBL7_HUMAN ubiquitin-like 7 (bone marrow stromal cell-derived) 242 protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 TAGAGGGTGTGGACCTGGTGT 0.597000 5 27 0 0 1 0 0 HYOU1 10525 broad.mit.edu 37 11 118917447 118917447 + Nonsense_Mutation SNP G G C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr11:118917447G>C ENST00000404233.3 - 23 2787 c.2663C>G c.(2662-2664)tCa>tGa p.S888* HYOU1_ENST00000525859.1_Nonsense_Mutation_p.S826*|HYOU1_ENST00000529972.1_Nonsense_Mutation_p.S826* NM_001130991.1|NM_006389.3 NP_001124463.1|NP_006380.1 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 888 endoplasmic reticulum lumen ATP binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2) 33 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) AATGTCTTTTGAGAGCAACAC 0.567000 5 133 0 0 1 0 0 EGR2 1959 broad.mit.edu 37 10 64573000 64573000 + Silent SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr10:64573000G>A ENST00000242480.3 - 2 1723 c.1398C>T c.(1396-1398)ctC>ctT p.L466L EGR2_ENST00000439032.1_Silent_p.L466L|EGR2_ENST00000411732.1_Silent_p.L416L NM_000399.3|NM_001136177.1 NP_000390.2|NP_001129649.1 P11161 EGR2_HUMAN early growth response 2 466 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 36 Prostate(12;0.0297)|all_hematologic(501;0.228) AGCAAGGGGCGAGCGGCCCTC 0.652000 25 110 0 0 1 0 0 ESF1 51575 broad.mit.edu 37 20 13747568 13747568 + Nonsense_Mutation SNP C C A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr20:13747568C>A ENST00000202816.1 - 8 1629 c.1522G>T c.(1522-1524)Gaa>Taa p.E508* NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 508 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 CAAGTGATTTCCACCTTTCAC 0.338000 33 83 1.62565e-12 1.80872e-12 1 1 0 MYO1G 64005 broad.mit.edu 37 7 45009308 45009308 + Missense_Mutation SNP C C A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr7:45009308C>A ENST00000258787.7 - 11 1635 c.1499G>T c.(1498-1500)cGc>cTc p.R500L NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 500 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 GGGCACCTGGCGGCTGGTGTA 0.667000 20 121 8.10497e-08 8.70404e-08 1 1 0 SEC14L1 6397 broad.mit.edu 37 17 75201375 75201375 + Missense_Mutation SNP A A C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr17:75201375A>C ENST00000413679.2 + 11 1419 c.1116A>C c.(1114-1116)gaA>gaC p.E372D SEC14L1_ENST00000430767.4_Missense_Mutation_p.E372D|SEC14L1_ENST00000431431.2_Missense_Mutation_p.E338D|SEC14L1_ENST00000436233.4_Missense_Mutation_p.E372D|SEC14L1_ENST00000591437.1_Missense_Mutation_p.E338D|SEC14L1_ENST00000585618.1_Missense_Mutation_p.E372D|SEC14L1_ENST00000392476.2_Missense_Mutation_p.E372D|SEC14L1_ENST00000443798.4_Missense_Mutation_p.E372D NM_001143998.1|NM_001143999.1|NM_003003.3 NP_001137470.1|NP_001137471.1|NP_002994.3 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) 372 CRAL-TRIO. 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 CCATAAATGAAGAAGGGCTAA 0.403000 11 74 0 0 1 0 0 RAB41 347517 broad.mit.edu 37 X 69502411 69502411 + Silent SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chrX:69502411C>T ENST00000374473.2 + 2 199 c.153C>T c.(151-153)ttC>ttT p.F51F RAB41_ENST00000276066.4_Silent_p.F50F Q5JT25 RAB41_HUMAN RAB41, member RAS oncogene family 51 protein transport|small GTPase mediated signal transduction GTP binding breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2) 14 TCAGCCGCTTCATGTACAACA 0.537000 14 66 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11845708 11845708 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr17:11845708C>T ENST00000262442.3 + 67 12817 c.12749C>T c.(12748-12750)cCt>cTt p.P4250L DNAH9_ENST00000454412.2_Missense_Mutation_p.P4174L|DNAH9_ENST00000396001.2_Missense_Mutation_p.P562L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 4250 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GAGCGCACCCCTTACATTGTA 0.537000 19 80 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103428220 103428220 + Nonsense_Mutation SNP C C A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr1:103428220C>A ENST00000358392.2 - 39 3366 c.3049G>T c.(3049-3051)Gaa>Taa p.E1017* COL11A1_ENST00000370096.3_Nonsense_Mutation_p.E1005*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.E889*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.E966* NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1005 Triple-helical region. 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 p.E1005K(1)|p.E1017K(1) 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) TTTGCACCTTCTTTTCCTGCA 0.468000 15 56 0.000308642 0.000316326 1 1 0 COL22A1 169044 broad.mit.edu 37 8 139793188 139793188 + Silent SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr8:139793188G>A ENST00000303045.6 - 13 2078 c.1632C>T c.(1630-1632)gaC>gaT p.D544D COL22A1_ENST00000435777.1_Silent_p.D544D NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 544 Collagen-like 2.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTTTGCTGCCGTCTCTCCCAG 0.527000 HNSCC(7;0.00092) 33 74 0 0 1 0 0 KIF3B 9371 broad.mit.edu 37 20 30898675 30898675 + Silent SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr20:30898675C>G ENST00000375712.3 + 2 1262 c.1095C>G c.(1093-1095)ctC>ctG p.L365L KIF3B_ENST00000418717.2_Silent_p.L53L NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 365 anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TTGCTCGGCTCAAGGCCCAGC 0.557000 5 53 0 0 1 0 0 ATP6AP2 10159 broad.mit.edu 37 X 40456836 40456836 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chrX:40456836C>T ENST00000378438.4 + 5 612 c.454C>T c.(454-456)Cgc>Tgc p.R152C ATP6AP2_ENST00000544975.1_Missense_Mutation_p.R76C|ATP6AP2_ENST00000535777.1_Intron|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.R120C|ATP6AP2_ENST00000486558.1_3'UTR NM_005765.2 NP_005756.2 O75787 RENR_HUMAN ATPase, H+ transporting, lysosomal accessory protein 2 152 angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade external side of plasma membrane|integral to membrane protein binding|receptor activity endometrium(1)|large_intestine(1)|lung(2) 4 AGTCACCTTGCGCCAGCTCCG 0.408000 26 172 0 0 1 0 0 SUSD3 203328 broad.mit.edu 37 9 95838220 95838220 + Silent SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr9:95838220C>T ENST00000375472.3 + 2 279 c.243C>T c.(241-243)atC>atT p.I81I SUSD3_ENST00000375469.1_Silent_p.I68I NM_145006.2 NP_659443.1 Q96L08 SUSD3_HUMAN sushi domain containing 3 81 Sushi. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 13 AGGGGAGCATCGCTGAGTGGT 0.637000 8 98 0 0 1 0 0 LRP12 29967 broad.mit.edu 37 8 105503260 105503260 + Missense_Mutation SNP G G A rs141755380 TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr8:105503260G>A ENST00000276654.5 - 7 2329 c.2221C>T c.(2221-2223)Cgt>Tgt p.R741C LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.R722C NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 741 endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) AATGTAAAACGTACCCAGCGT 0.478000 37 76 0 0 1 0 0 FCRL1 115350 broad.mit.edu 37 1 157767980 157767980 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr1:157767980G>A ENST00000358292.3 - 7 1019 c.968C>T c.(967-969)cCa>cTa p.P323L FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.P362L|FCRL1_ENST00000368176.3_Missense_Mutation_p.P362L NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 362 integral to membrane|plasma membrane receptor activity p.P323R(2)|p.P362R(2) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TAGCTGCCCTGGGGTAGGTGA 0.498000 6 27 0 0 1 0 0 NRD1 4898 broad.mit.edu 37 1 52281999 52281999 + Missense_Mutation SNP G G C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr1:52281999G>C ENST00000354831.7 - 13 1817 c.1628C>G c.(1627-1629)tCt>tGt p.S543C NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.S343C|NRD1_ENST00000352171.7_Missense_Mutation_p.S475C|NRD1_ENST00000539524.1_Missense_Mutation_p.S411C NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 474 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 CCTAAGGAAAGAAAGAATGCT 0.299000 8 64 0 0 1 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57868256 57868256 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr12:57868256C>T ENST00000393797.2 - 18 2195 c.2003G>A c.(2002-2004)cGt>cAt p.R668H ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R657H|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R578H|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R394H|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R578H|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.R597H Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 597 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) GGTGACCGCACGCTCTGCAAC 0.517000 20 42 0 0 1 0 0 EPN3 55040 broad.mit.edu 37 17 48619236 48619236 + Silent SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr17:48619236C>T ENST00000268933.3 + 10 2196 c.1617C>T c.(1615-1617)ttC>ttT p.F539F EPN3_ENST00000537145.1_Silent_p.F567F|EPN3_ENST00000541226.1_3'UTR NM_017957.2 NP_060427.2 Q9H201 EPN3_HUMAN epsin 3 539 3 X 3 AA repeats of N-P-F. clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) CCAACCCGTTCGGCGCGGGCG 0.716000 5 43 0 0 1 0 0 LONRF3 79836 broad.mit.edu 37 X 118108892 118108892 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chrX:118108892C>T ENST00000365713.2 + 1 312 c.149C>T c.(148-150)cCg>cTg p.P50L LONRF3_ENST00000371628.3_Missense_Mutation_p.P50L|LONRF3_ENST00000304778.7_Missense_Mutation_p.P50L Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 3 50 proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 36 GCACCTCTACCGACGCGGGAG 0.677000 4 13 0 0 1 0 0 HSPB2 3316 broad.mit.edu 37 11 111784374 111784374 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr11:111784374C>T ENST00000304298.3 + 2 892 c.304C>T c.(304-306)Cgg>Tgg p.R102W CRYAB_ENST00000533475.1_5'UTR|HSPB2_ENST00000537382.1_Missense_Mutation_p.R102W|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000527950.1_Intron NM_001541.3 NP_001532.1 Q16082 HSPB2_HUMAN heat shock 27kDa protein 2 102 response to heat|response to unfolded protein cytosol|nucleus enzyme activator activity|protein binding large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051) GGTGTCTGCCCGGCACCCCCA 0.627000 11 74 0 0 1 0 0 UBTF 7343 broad.mit.edu 37 17 42293957 42293957 + Silent SNP T T C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr17:42293957T>C ENST00000302904.4 - 3 666 c.174A>G c.(172-174)gtA>gtG p.V58V UBTF_ENST00000393606.3_Silent_p.V58V|UBTF_ENST00000343638.5_Silent_p.V58V|UBTF_ENST00000529383.1_Silent_p.V58V|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000527034.1_Silent_p.V58V|UBTF_ENST00000533177.1_Silent_p.V58V|UBTF_ENST00000526094.1_Silent_p.V58V|UBTF_ENST00000436088.1_Silent_p.V58V P17480 UBF1_HUMAN upstream binding transcription factor, RNA polymerase I 58 positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) CTTTAAATGCTACTTTTTCCC 0.438000 135 222 0 0 1 0 0 LRFN4 78999 broad.mit.edu 37 11 66625772 66625772 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr11:66625772C>T ENST00000309602.4 + 1 800 c.557C>T c.(556-558)cCa>cTa p.P186L PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.P186L|PC_ENST00000393955.2_Intron NM_024036.4 NP_076941.2 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III domain containing 4 186 integral to membrane breast(1)|lung(1)|prostate(1) 3 GCACTGCCCCCAGGCGCCTTC 0.667000 8 34 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72398976 72398976 + Missense_Mutation SNP A A G rs147859349 TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr7:72398976A>G ENST00000395270.1 + 7 1322 c.281A>G c.(280-282)aAt>aGt p.N94S POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 359 Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) CTGGTGGCCAATGGAGTCCCC 0.468000 5 284 0 0 1 0 0 IKBKB 3551 broad.mit.edu 37 8 42176072 42176072 + Nonsense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr8:42176072C>T ENST00000520810.1 + 13 1429 c.1243C>T c.(1243-1245)Caa>Taa p.Q415* IKBKB_ENST00000379708.3_Nonsense_Mutation_p.Q192*|IKBKB_ENST00000416505.2_Nonsense_Mutation_p.Q356*|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Nonsense_Mutation_p.Q413* 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 53 41 0 0 1 0 0 NFE2L3 9603 broad.mit.edu 37 7 26224783 26224783 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr7:26224783C>T ENST00000056233.3 + 4 1724 c.1465C>T c.(1465-1467)Ctt>Ttt p.L489F NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 489 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 CCATGGAGATCTTACATTTCA 0.438000 30 164 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 120996150 120996150 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr11:120996150C>T ENST00000392793.1 + 8 1614 c.1343C>T c.(1342-1344)tCc>tTc p.S448F TECTA_ENST00000264037.2_Missense_Mutation_p.S448F O75443 TECTA_HUMAN tectorin alpha 448 VWFD 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GCCTCCATTTCCGTCCCAGGC 0.507000 10 404 0 0 1 0 0 XAGE5 170627 broad.mit.edu 37 X 52841625 52841625 + Missense_Mutation SNP G G T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chrX:52841625G>T ENST00000375503.3 + 1 398 c.35G>T c.(34-36)cGa>cTa p.R12L XAGE5_ENST00000425386.1_Missense_Mutation_p.R12L|XAGE5_ENST00000351072.1_Missense_Mutation_p.R12L|XAGE5_ENST00000375501.1_Missense_Mutation_p.R12L Q8WWM1 GAGD5_HUMAN X antigen family, member 5 12 endometrium(1)|large_intestine(1)|lung(5)|ovary(1) 8 AGACCAAGACGATGTTTACGA 0.433000 8 159 0.00621372 0.00629011 1 1 0 KCNE3 10008 broad.mit.edu 37 11 74168573 74168573 + Silent SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr11:74168573C>T ENST00000310128.4 - 3 455 c.36G>A c.(34-36)gaG>gaA p.E12E KCNE3_ENST00000525550.1_Silent_p.E12E|RP11-702H23.4_ENST00000533008.1_RNA NM_005472.4 NP_005463.1 Q9Y6H6 KCNE3_HUMAN potassium voltage-gated channel, Isk-related family, member 3 12 integral to membrane voltage-gated potassium channel activity cervix(1)|large_intestine(1)|lung(1)|ovary(1) 4 Breast(11;2.86e-06) CATGCAGGCTCTCATACCAGG 0.552000 10 56 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62289331 62289331 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr8:62289331G>A ENST00000519846.1 + 4 1095 c.623G>A c.(622-624)gGg>gAg p.G208E CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.G208E Q8IUQ0 CLVS1_HUMAN clavesin 1 208 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 GCCATTGAAGGGTTGCAGGTA 0.358000 43 64 0 0 1 0 0 COLEC11 78989 broad.mit.edu 37 2 3691387 3691387 + Silent SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr2:3691387C>T ENST00000403096.3 + 6 908 c.417C>T c.(415-417)gaC>gaT p.D139D COLEC11_ENST00000236693.7_Silent_p.D162D|COLEC11_ENST00000404205.1_Silent_p.D91D|COLEC11_ENST00000402794.1_Silent_p.D115D|COLEC11_ENST00000402922.1_Silent_p.D115D|COLEC11_ENST00000382062.2_Silent_p.D141D|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000349077.4_Silent_p.D165D|COLEC11_ENST00000418971.2_Silent_p.D179D NM_001255986.1 NP_001242915.1 Q9BWP8 COL11_HUMAN collectin sub-family member 11 165 collagen mannose binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1) 22 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) GCTACGCGGACGCCCAGCTGT 0.662000 21 56 0 0 1 0 0 CARS 833 broad.mit.edu 37 11 3028178 3028178 + Silent SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr11:3028178G>A ENST00000397114.3 - 19 2177 c.1801C>T c.(1801-1803)Ctg>Ttg p.L601L CARS_ENST00000380525.4_Silent_p.L694L|CARS_ENST00000397111.5_Silent_p.L611L|CARS_ENST00000401769.3_Silent_p.L624L|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000278224.9_Silent_p.L611L P49589 SYCC_HUMAN cysteinyl-tRNA synthetase 611 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding CARS/ALK(5) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1) 31 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) CTGAGCTGCAGAATCTCAGGG 0.602000 T ALK ALCL 8 153 0 0 1 0 0 POLK 51426 broad.mit.edu 37 5 74892409 74892409 + Missense_Mutation SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr5:74892409C>G ENST00000241436.4 + 13 2063 c.1891C>G c.(1891-1893)Caa>Gaa p.Q631E POLK_ENST00000508526.1_Missense_Mutation_p.Q433E|POLK_ENST00000380481.3_Missense_Mutation_p.Q541E|POLK_ENST00000352007.5_Missense_Mutation_p.Q433E|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Intron NM_016218.2 NP_057302.1 Q9UBT6 POLK_HUMAN polymerase (DNA directed) kappa 631 DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 27 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) CTTTAGGGCTCAAGGGTGCAT 0.373000 DNA polymerases (catalytic subunits) 6 153 0 0 1 0 0 MSH4 4438 broad.mit.edu 37 1 76282183 76282183 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr1:76282183C>T ENST00000263187.3 + 6 1045 c.941C>T c.(940-942)tCa>tTa p.S314L NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 314 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 ATGATAGATTCATCATCAGCC 0.279000 Mismatch excision repair (MMR) 19 46 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9058944 9058944 + Missense_Mutation SNP G G T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr19:9058944G>T ENST00000397910.4 - 3 28705 c.28502C>A c.(28501-28503)gCc>gAc p.A9501D NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9503 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTTAGAAGCGGCCAGACTCTC 0.478000 30 153 1.7881e-09 1.95425e-09 1 1 0 DCAF12L1 139170 broad.mit.edu 37 X 125685745 125685745 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chrX:125685745C>T ENST00000371126.1 - 1 1089 c.847G>A c.(847-849)Gac>Aac p.D283N NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 283 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 AAGTAGCCGTCCAAGGACACC 0.622000 8 93 0 0 1 0 0 PTGDS 5730 broad.mit.edu 37 9 139872000 139872000 + Translation_Start_Site SNP A A T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr9:139872000A>T ENST00000224167.2 + 0 45 PTGDS_ENST00000371625.3_De_novo_Start_OutOfFrame P41222 PTGDS_HUMAN prostaglandin D2 synthase 21kDa (brain) prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity endometrium(2)|kidney(1)|lung(3)|ovary(1) 7 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CACTGGCACCAGGCCCCGGAC 0.667000 6 8 0 0 1 0 0 IPO7 10527 broad.mit.edu 37 11 9455312 9455312 + Nonsense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr11:9455312C>T ENST00000379719.3 + 18 2135 c.1993C>T c.(1993-1995)Caa>Taa p.Q665* NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 665 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) TTTGACATGTCAACAAGTGTC 0.398000 18 71 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35733561 35733561 + Missense_Mutation SNP G G C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr13:35733561G>C ENST00000540320.1 + 22 3787 c.3253G>C c.(3253-3255)Gag>Cag p.E1085Q NBEA_ENST00000400445.3_Missense_Mutation_p.E1085Q|NBEA_ENST00000379939.2_Missense_Mutation_p.E1085Q|NBEA_ENST00000310336.4_Missense_Mutation_p.E1085Q Q8NFP9 NBEA_HUMAN neurobeachin 1085 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) AGTAGGTGGAGAGAATGGTGC 0.393000 10 14 0 0 1 0 0 PDZD4 57595 broad.mit.edu 37 X 153070325 153070325 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chrX:153070325C>T ENST00000164640.4 - 8 984 c.793G>A c.(793-795)Gat>Aat p.D265N PDZD4_ENST00000544474.1_Missense_Mutation_p.D156N|PDZD4_ENST00000393758.2_Missense_Mutation_p.D190N NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 265 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGCCGGCATCGGGAGCCCCC 0.632000 23 49 0 0 1 0 0 LHX2 9355 broad.mit.edu 37 9 126777643 126777643 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr9:126777643C>T ENST00000373615.4 + 3 1305 c.566C>T c.(565-567)gCg>gTg p.A189V NM_004789.3 NP_004780.3 P50458 LHX2_HUMAN LIM homeobox 2 189 Poly-Ala. nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1) 10 GTGGCAGCGGCGGCCGCTGCA 0.677000 9 53 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49208288 49208288 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr11:49208288C>T ENST00000340334.7 - 6 870 c.502G>A c.(502-504)Gaa>Aaa p.E168K FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000356696.3_Missense_Mutation_p.E183K|FOLH1_ENST00000256999.2_Missense_Mutation_p.E183K|FOLH1_ENST00000533034.1_Missense_Mutation_p.E168K NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 183 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) AAGAAGTCTTCAGTTCGTGCA 0.383000 14 118 0 0 1 0 0 BAIAP2 10458 broad.mit.edu 37 17 79078365 79078365 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr17:79078365G>A ENST00000321300.6 + 10 1211 c.1118G>A c.(1117-1119)cGc>cAc p.R373H BAIAP2_ENST00000321280.7_Missense_Mutation_p.R373H|BAIAP2_ENST00000575245.1_Missense_Mutation_p.R406H|BAIAP2_ENST00000435091.3_Missense_Mutation_p.R373H|BAIAP2_ENST00000392411.3_Missense_Mutation_p.R295H|BAIAP2_ENST00000416299.2_Missense_Mutation_p.R236H|BAIAP2_ENST00000575712.1_Missense_Mutation_p.R373H|BAIAP2_ENST00000428708.2_Missense_Mutation_p.R373H NM_001144888.1|NM_017451.2 NP_001138360.1|NP_059345.1 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 373 axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1) 18 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GGCCTGGAGCGCAATGGCCGT 0.642000 4 97 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144893330 144893330 + Silent SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr8:144893330G>A ENST00000356994.2 - 10 1098 c.1092C>T c.(1090-1092)gaC>gaT p.D364D SCRIB_ENST00000377533.3_Silent_p.D283D|SCRIB_ENST00000320476.3_Silent_p.D364D NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 364 Sufficient for targeting to adherens junction and to inhibit cell proliferation. 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 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) TCCCCGCCACGTCCAGCACGT 0.701000 4 30 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47660846 47660846 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr21:47660846C>T ENST00000397708.1 - 27 5766 c.5512G>A c.(5512-5514)Gag>Aag p.E1838K MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1838K|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1838 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) TGAGCACACTCTGTGCTCCTC 0.493000 21 98 0 0 1 0 0 FOXK1 221937 broad.mit.edu 37 7 4796636 4796636 + Silent SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr7:4796636G>A ENST00000328914.4 + 5 1062 c.1062G>A c.(1060-1062)cgG>cgA p.R354R FOXK1_ENST00000446823.1_Silent_p.R191R NM_001037165.1 NP_001032242.1 P85037 FOXK1_HUMAN forkhead box K1 354 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion 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 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) ATTCTATCCGGCACAACCTCT 0.522000 4 117 0 0 1 0 0 SCIN 85477 broad.mit.edu 37 7 12675695 12675695 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr7:12675695G>A ENST00000297029.5 + 10 1446 c.1345G>A c.(1345-1347)Gag>Aag p.E449K SCIN_ENST00000519209.1_Missense_Mutation_p.E202K|SCIN_ENST00000445618.2_Missense_Mutation_p.E202K NM_001112706.2 NP_001106177.1 Q9Y6U3 ADSV_HUMAN scinderin 449 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 17 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) CACACGAGATGAGCTGACAAC 0.463000 5 21 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 120979946 120979946 + Missense_Mutation SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr11:120979946C>G ENST00000392793.1 + 4 496 c.225C>G c.(223-225)ttC>ttG p.F75L TECTA_ENST00000264037.2_Missense_Mutation_p.F75L O75443 TECTA_HUMAN tectorin alpha 75 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TTGTTTCCTTCAATGTGCTAG 0.468000 5 41 0 0 1 0 0 TSNARE1 203062 broad.mit.edu 37 8 143399953 143399953 + Silent SNP G G A rs144275934 TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr8:143399953G>A ENST00000519651.1 - 5 382 c.279C>T c.(277-279)agC>agT p.S93S TSNARE1_ENST00000307180.3_Silent_p.S312S|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000524325.1_Silent_p.S312S|TSNARE1_ENST00000520166.1_Silent_p.S312S Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 312 vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CGGAGCTGGCGCTGGCTGCAA 0.657000 21 168 0 0 1 0 0 CAPN13 92291 broad.mit.edu 37 2 30965219 30965219 + Silent SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr2:30965219C>T ENST00000295055.8 - 14 1628 c.1452G>A c.(1450-1452)ctG>ctA p.L484L CAPN13_ENST00000534090.2_Silent_p.L484L NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 484 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) AATGGCTGCTCAGGTGCCTAG 0.537000 3 17 0 0 1 0 0 AXIN1 8312 broad.mit.edu 37 16 347826 347826 + Silent SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr16:347826G>A ENST00000262320.3 - 6 2051 c.1680C>T c.(1678-1680)agC>agT p.S560S AXIN1_ENST00000354866.3_Silent_p.S560S NM_003502.3 NP_003493.1 O15169 AXIN1_HUMAN axin 1 560 Interaction with RNF111. activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) AGGCGAAGCTGCTCTGGGCCC 0.701000 6 25 0 0 1 0 0 PPP1R32 220004 broad.mit.edu 37 11 61254049 61254049 + Silent SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr11:61254049C>T ENST00000338608.2 + 9 926 c.801C>T c.(799-801)ttC>ttT p.F267F PPP1R32_ENST00000432063.2_Silent_p.F247F NM_145017.2 NP_659454.2 Q7Z5V6 CK066_HUMAN protein phosphatase 1, regulatory subunit 32 267 AAACAGCCTTCAGCCGAGGGA 0.582000 8 29 0 0 1 0 0 USP6NL 9712 broad.mit.edu 37 10 11531113 11531113 + Missense_Mutation SNP G G T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr10:11531113G>T ENST00000379237.1 - 10 1046 c.652C>A c.(652-654)Cat>Aat p.H218N USP6NL_ENST00000277575.5_Missense_Mutation_p.H235N NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like 218 Rab-GAP TBC. intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 TGCATGGCATGTTTAGGGCCT 0.423000 22 105 3.5997e-14 4.02319e-14 1 1 0 NRP2 8828 broad.mit.edu 37 2 206608171 206608171 + Missense_Mutation SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr2:206608171C>G ENST00000360409.3 + 9 2327 c.1536C>G c.(1534-1536)atC>atG p.I512M NRP2_ENST00000540841.1_Missense_Mutation_p.I512M|NRP2_ENST00000417189.1_Missense_Mutation_p.I512M|NRP2_ENST00000357118.4_Missense_Mutation_p.I512M|NRP2_ENST00000272849.3_Missense_Mutation_p.I512M|NRP2_ENST00000357785.5_Missense_Mutation_p.I512M|NRP2_ENST00000355117.4_Missense_Mutation_p.I512M|NRP2_ENST00000412873.2_Missense_Mutation_p.I512M|NRP2_ENST00000540178.1_Missense_Mutation_p.I512M NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 512 F5/8 type C 2. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 GAGACAGTATCACTGCTGTGG 0.567000 3 63 0 0 1 0 0 ARL8A 127829 broad.mit.edu 37 1 202104633 202104633 + Nonsense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr1:202104633G>A ENST00000272217.2 - 5 562 c.394C>T c.(394-396)Cga>Tga p.R132* ARL8A_ENST00000486225.1_5'UTR NM_001256129.1|NM_138795.3 NP_001243058.1|NP_620150.1 Q96BM9 ARL8A_HUMAN ADP-ribosylation factor-like 8A 132 cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction late endosome membrane|lysosomal membrane|midbody|spindle midzone alpha-tubulin binding|beta-tubulin binding|GTP binding|GTPase activity large_intestine(1)|lung(2)|ovary(2)|skin(1) 6 GGAAGGTCTCGCTTGTTACCC 0.547000 OREG0012976 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 166 0 0 1 0 0 CELA3A 10136 broad.mit.edu 37 1 22332274 22332274 + Missense_Mutation SNP C C T rs147890009 TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr1:22332274C>T ENST00000290122.3 + 4 366 c.347C>T c.(346-348)tCg>tTg p.S116L CELA3A_ENST00000374663.1_Missense_Mutation_p.S116L NM_005747.4 NP_005738.4 chymotrypsin-like elastase family, member 3A endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TGGAACCGCTCGTGTGTGGCC 0.582000 20 128 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105420866 105420866 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr14:105420866G>A ENST00000333244.5 - 7 1041 c.922C>T c.(922-924)Cgc>Tgc p.R308C NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 308 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGCTCTTGGCGCTCCACCGTG 0.622000 10 17 0 0 1 0 0 MAGT1 84061 broad.mit.edu 37 X 77130965 77130965 + Missense_Mutation SNP A A T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chrX:77130965A>T ENST00000358075.6 - 2 414 c.328T>A c.(328-330)Ttc>Atc p.F110I MAGT1_ENST00000373336.3_Missense_Mutation_p.F78I NM_032121.5 NP_115497.4 Q9H0U3 MAGT1_HUMAN magnesium transporter 1 78 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 17 AGAGCAGTGAACATGACGATA 0.398000 46 336 0 0 1 0 0 SERPINH1 871 broad.mit.edu 37 11 75277979 75277979 + Silent SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr11:75277979G>A ENST00000524558.1 + 2 2020 c.585G>A c.(583-585)acG>acA p.T195T SERPINH1_ENST00000533603.1_Silent_p.T195T|SERPINH1_ENST00000358171.3_Silent_p.T195T|SERPINH1_ENST00000530284.1_Silent_p.T195T P50454 SERPH_HUMAN serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 195 regulation of proteolysis|response to unfolded protein endoplasmic reticulum lumen|ER-Golgi intermediate compartment collagen binding|serine-type endopeptidase inhibitor activity endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1) 15 Ovarian(111;0.11) TGGAGCGCACGGACGGCGCCC 0.662000 9 47 0 0 1 0 0 PACS2 23241 broad.mit.edu 37 14 105848855 105848855 + Silent SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr14:105848855C>G ENST00000447393.1 + 14 1630 c.1455C>G c.(1453-1455)ctC>ctG p.L485L PACS2_ENST00000325438.8_Silent_p.L481L|PACS2_ENST00000547217.1_Silent_p.L451L|PACS2_ENST00000430725.2_Silent_p.L406L|PACS2_ENST00000458164.2_Silent_p.L485L NM_015197.3 NP_056012.2 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 481 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) ACCACATCCTCATCTCCGATG 0.587000 42 221 0 0 1 0 0 ECEL1 9427 broad.mit.edu 37 2 233349770 233349770 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr2:233349770C>T ENST00000304546.1 - 4 1097 c.887G>A c.(886-888)cGa>cAa p.R296Q ECEL1_ENST00000409941.1_Missense_Mutation_p.R296Q NM_004826.2 NP_004817.2 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 296 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity p.R296Q(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) GCTGAGCACTCGCTCCATGAA 0.642000 22 43 0 0 1 0 0 REG3G 130120 broad.mit.edu 37 2 79253241 79253241 + Missense_Mutation SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr2:79253241C>G ENST00000272324.5 + 2 206 c.22C>G c.(22-24)Ccc>Gcc p.P8A REG3G_ENST00000409471.1_Missense_Mutation_p.P8A|REG3G_ENST00000393897.2_Missense_Mutation_p.P8A NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 8 acute-phase response extracellular region sugar binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CATGGCCCTGCCCAGTGTGTC 0.547000 8 49 0 0 1 0 0 EMX2 2018 broad.mit.edu 37 10 119303089 119303089 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr10:119303089C>T ENST00000553456.3 + 1 1135 c.311C>T c.(310-312)tCg>tTg p.S104L EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Missense_Mutation_p.S104L NM_004098.3 NP_004089.1 Q04743 EMX2_HUMAN empty spiracles homeobox 2 104 S -> P (in Ref. 3; BAB70842). nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2) 12 Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22) all cancers(201;0.0133) TCCTCGCACTCGCCACACCCC 0.701000 7 79 0 0 1 0 0 IGHV4-39 28394 broad.mit.edu 37 14 106878021 106878021 + RNA SNP G G T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr14:106878021G>T ENST00000390619.2 - 0 105 TCTGGGAGCCGCCACCAGCAG 0.502000 13 45 7.03913e-09 7.62572e-09 1 1 0 TCP11L2 255394 broad.mit.edu 37 12 106740092 106740092 + Missense_Mutation SNP G G T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr12:106740092G>T ENST00000299045.3 + 10 1518 c.1344G>T c.(1342-1344)agG>agT p.R448S NM_152772.1 NP_689985.1 Q8N4U5 T11L2_HUMAN t-complex 11, testis-specific-like 2 448 endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 ACATGAGAAGGCTACTTTGTC 0.383000 16 46 9.16793e-09 9.88855e-09 1 1 0 TP53 7157 broad.mit.edu 37 17 7578275 7578275 + Nonsense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr17:7578275G>A ENST00000420246.2 - 6 706 c.574C>T c.(574-576)Cag>Tag p.Q192* TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 192 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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) ATAAGATGCTGAGGAGGGGCC 0.557000 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) 18 35 0 0 1 0 0 KLF17 128209 broad.mit.edu 37 1 44595051 44595051 + Missense_Mutation SNP G G C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr1:44595051G>C ENST00000372299.3 + 2 166 c.108G>C c.(106-108)ttG>ttC p.L36F KLF17_ENST00000476802.1_3'UTR NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 36 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) CGCCCATCTTGAACATGTCTT 0.502000 47 73 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106960935 106960935 + Nonsense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr10:106960935C>T ENST00000369701.3 + 16 2412 c.2185C>T c.(2185-2187)Cag>Tag p.Q729* SORCS3_ENST00000369699.4_Nonsense_Mutation_p.Q15* NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 729 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GCCAGGAGCTCAGTGTGCCCT 0.468000 21 94 0 0 1 0 0 NFE2L3 9603 broad.mit.edu 37 7 26223354 26223354 + Missense_Mutation SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr7:26223354C>G ENST00000056233.3 + 3 1043 c.784C>G c.(784-786)Ctg>Gtg p.L262V NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 262 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 TTCTTTCTCTCTGGAAGACTT 0.413000 16 111 0 0 1 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29973740 29973740 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chrX:29973740G>A ENST00000378993.1 + 11 2567 c.1894G>A c.(1894-1896)Gta>Ata p.V632I IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.V632I NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 632 Interaction with NCS1. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 TGAGTACGACGTACCTCCTAC 0.507000 10 22 0 0 1 0 0 RPL32 6161 broad.mit.edu 37 3 12881680 12881680 + Silent SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr3:12881680C>T ENST00000429711.2 - 2 156 c.57G>A c.(55-57)aaG>aaA p.K19K RPL32_ENST00000396953.2_Silent_p.K19K|RPL32_ENST00000273223.6_Silent_p.K19K|RPL32_ENST00000396957.1_Silent_p.K19K|RPL32_ENST00000435983.1_Silent_p.K19K NM_000994.3 NP_000985.1 P62910 RL32_HUMAN ribosomal protein L32 19 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome protein binding|structural constituent of ribosome kidney(1)|large_intestine(2)|lung(2)|ovary(1) 6 GCCGGATGAACTTCTTGGTTC 0.502000 84 242 0 0 1 0 0 DOCK1 1793 broad.mit.edu 37 10 129046280 129046280 + Silent SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr10:129046280C>T ENST00000280333.6 + 28 2902 c.2793C>T c.(2791-2793)ttC>ttT p.F931F DOCK1_ENST00000484400.1_3'UTR NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 931 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding p.F931F(1) NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) AGGGAAACTTCGTGGCTTGCA 0.403000 7 28 0 0 1 0 0 HIST2H2BE 8349 broad.mit.edu 37 1 149857978 149857978 + Missense_Mutation SNP G G C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr1:149857978G>C ENST00000369155.2 - 1 254 c.213C>G c.(211-213)ttC>ttG p.F71L NM_003528.2 NP_003519.1 Q16778 H2B2E_HUMAN histone cluster 2, H2be 71 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding p.F71L(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 14 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CGATGCGCTCGAAGATGTCGT 0.622000 27 183 0 0 1 0 0 MTBP 27085 broad.mit.edu 37 8 121535550 121535550 + Missense_Mutation SNP G G T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr8:121535550G>T ENST00000305949.1 + 22 2734 c.2689G>T c.(2689-2691)Gta>Tta p.V897L NM_022045.3 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 897 Interaction with MDM2 (By similarity). cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) GATTGACTGGGTATTAGAAAA 0.279000 5 312 0.00116845 0.00118768 1 1 0 SMCHD1 23347 broad.mit.edu 37 18 2688459 2688459 + Missense_Mutation SNP G G T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr18:2688459G>T ENST00000320876.6 + 6 1044 c.706G>T c.(706-708)Ggt>Tgt p.G236C SMCHD1_ENST00000261598.8_Missense_Mutation_p.G236C NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 236 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 TTCCTATTTTGGTGTTGGGGG 0.338000 14 142 2.23348e-06 2.36768e-06 1 1 0 TESK1 7016 broad.mit.edu 37 9 35608973 35608973 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr9:35608973G>A ENST00000336395.5 + 10 1365 c.1115G>A c.(1114-1116)gGg>gAg p.G372E TESK1_ENST00000498522.1_3'UTR NM_006285.2 NP_006276.2 Q15569 TESK1_HUMAN testis-specific kinase 1 372 cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 27 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CCCAACTGGGGGGACAATCTG 0.612000 22 109 0 0 1 0 0 SPI1 6688 broad.mit.edu 37 11 47399866 47399866 + Silent SNP G G T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr11:47399866G>T ENST00000378538.3 - 1 261 c.39C>A c.(37-39)gtC>gtA p.V13V SPI1_ENST00000533030.1_Silent_p.V13V|SPI1_ENST00000533968.1_Silent_p.V13V|SPI1_ENST00000227163.4_Silent_p.V13V NM_001080547.1|NM_003120.2 NP_001074016.1|NP_003111.2 P17947 SPI1_HUMAN spleen focus forming virus (SFFV) proviral integration oncogene 13 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation nucleus protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1) 8 Lung(87;0.0967) TCACAGGGGGGACGAGGGGAA 0.682000 4 12 1.23904e-05 1.30788e-05 1 1 0 MCM8 84515 broad.mit.edu 37 20 5948594 5948594 + Missense_Mutation SNP G G C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr20:5948594G>C ENST00000378896.3 + 10 1523 c.1146G>C c.(1144-1146)ttG>ttC p.L382F MCM8_ENST00000265187.4_Missense_Mutation_p.L366F|MCM8_ENST00000378886.2_Missense_Mutation_p.L382F|MCM8_ENST00000378883.1_Missense_Mutation_p.L382F NM_032485.4|NM_182802.1 NP_115874.3|NP_877954.1 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 382 cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 ATGGAATGTTGATGGAGTTCT 0.348000 16 128 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179424238 179424238 + Missense_Mutation SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr2:179424238C>G ENST00000589042.1 - 326 86845 c.86621G>C c.(86620-86622)gGa>gCa p.G28874A TTN_ENST00000342175.6_Missense_Mutation_p.G20001A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G27233A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G19809A|TTN_ENST00000359218.5_Missense_Mutation_p.G19934A|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G26306A NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27233 Fibronectin type-III 110. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CACTGGTGCTCCACCATCGTT 0.458000 13 107 0 0 1 0 0 KRT2 3849 broad.mit.edu 37 12 53044254 53044254 + Silent SNP G G T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr12:53044254G>T ENST00000309680.3 - 2 690 c.669C>A c.(667-669)atC>atA p.I223I NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 223 Linker 1.|Rod. 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) GCTCCAGGTTGATGGGGCGGG 0.507000 24 210 6.36457e-07 6.80541e-07 1 1 0 SETDB2 83852 broad.mit.edu 37 13 50062507 50062507 + Missense_Mutation SNP G G C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr13:50062507G>C ENST00000354234.4 + 12 2564 c.1658G>C c.(1657-1659)aGa>aCa p.R553T SETDB2_ENST00000317257.8_Missense_Mutation_p.R565T NM_001160308.1 NP_001153780.1 Q96T68 SETB2_HUMAN SET domain, bifurcated 2 565 SET. cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent chromosome|nucleus DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) ACTAAATATAGAGAAGAAACT 0.363000 24 125 0 0 1 0 0 SPOPL 339745 broad.mit.edu 37 2 139316854 139316854 + Missense_Mutation SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr2:139316854C>G ENST00000280098.4 + 7 1040 c.661C>G c.(661-663)Cga>Gga p.R221G NM_001001664.2 NP_001001664.1 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 221 BTB. nucleus breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2) 21 BRCA - Breast invasive adenocarcinoma(221;0.0296) TGTTACAGCTCGATCTCCAGT 0.299000 11 42 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247587769 247587769 + Missense_Mutation SNP C C A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr1:247587769C>A ENST00000366497.2 + 4 1804 c.1024C>A c.(1024-1026)Ccc>Acc p.P342T NLRP3_ENST00000391827.2_Missense_Mutation_p.P342T|NLRP3_ENST00000391828.3_Missense_Mutation_p.P342T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.P342T|NLRP3_ENST00000348069.2_Missense_Mutation_p.P342T|NLRP3_ENST00000366496.2_Missense_Mutation_p.P342T NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 342 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GAAGCTGCTTCCCGAGGCCTC 0.587000 39 66 4.01765e-15 4.51073e-15 1 1 0 SLC4A7 9497 broad.mit.edu 37 3 27439195 27439195 + Missense_Mutation SNP G G T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr3:27439195G>T ENST00000295736.5 - 18 2726 c.2656C>A c.(2656-2658)Cat>Aat p.H886N SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000445684.1_Missense_Mutation_p.H882N|SLC4A7_ENST00000446700.1_Missense_Mutation_p.H878N|SLC4A7_ENST00000428386.1_Missense_Mutation_p.H762N|SLC4A7_ENST00000454389.1_Missense_Mutation_p.H895N|SLC4A7_ENST00000435667.2_Missense_Mutation_p.H771N|SLC4A7_ENST00000455077.1_Missense_Mutation_p.H767N|SLC4A7_ENST00000437179.1_Missense_Mutation_p.H767N|SLC4A7_ENST00000440156.1_Missense_Mutation_p.H882N|SLC4A7_ENST00000388777.4_Missense_Mutation_p.H436N NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 886 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 TCAGGAACATGAAGTTTAGGA 0.343000 5 27 0.184627 0.184627 1 1 0 ADAM12 8038 broad.mit.edu 37 10 127782640 127782640 + Silent SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr10:127782640G>A ENST00000368679.4 - 11 1377 c.1068C>T c.(1066-1068)ttC>ttT p.F356F ADAM12_ENST00000368676.4_Silent_p.F356F NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 356 Peptidase M12B. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding p.F356F(3) biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) GATTCATCCCGAAATTGTGGC 0.502000 17 63 0 0 1 0 0 CDCA2 157313 broad.mit.edu 37 8 25344843 25344843 + Missense_Mutation SNP G G T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr8:25344843G>T ENST00000330560.3 + 12 2003 c.1526G>T c.(1525-1527)aGa>aTa p.R509I CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.R494I NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 509 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) ACTTCTAACAGAAGAAATGTA 0.328000 23 112 1.85244e-09 2.01565e-09 1 1 0 MTMR14 64419 broad.mit.edu 37 3 9695317 9695317 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr3:9695317G>A ENST00000296003.4 + 2 294 c.172G>A c.(172-174)Gag>Aag p.E58K MTMR14_ENST00000353332.5_Missense_Mutation_p.E58K|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Missense_Mutation_p.E58K NM_001077525.2 NP_001070993.1 Q8NCE2 MTMRE_HUMAN myotubularin related protein 14 58 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 21 Medulloblastoma(99;0.227) TGAGCGCATTGAGAAGAGATG 0.512000 6 142 0 0 1 0 0 HSPA14 51182 broad.mit.edu 37 10 14891737 14891737 + Silent SNP T T C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr10:14891737T>C ENST00000378372.3 + 6 633 c.394T>C c.(394-396)Ttg>Ctg p.L132L NM_016299.2 NP_057383.2 Q0VDF9 HSP7E_HUMAN heat shock 70kDa protein 14 132 'de novo' cotranslational protein folding cytosol ATP binding|protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2) 17 ACATTCTGTATTGGGCTCAGA 0.328000 10 63 0 0 1 0 0 HNRNPH3 3189 broad.mit.edu 37 10 70098948 70098948 + Missense_Mutation SNP A A T rs2273903 byFrequency TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr10:70098948A>T ENST00000265866.7 + 5 653 c.488A>T c.(487-489)aAt>aTt p.N163I HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.N55I|HNRNPH3_ENST00000354695.5_Missense_Mutation_p.N148I NM_012207.2|NM_021644.3 NP_036339.1|NP_067676.2 P31942 HNRH3_HUMAN heterogeneous nuclear ribonucleoprotein H3 (2H9) 163 Gly-rich. N -> S (in dbSNP:rs2273903). nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex nucleotide binding|protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2) 11 GGCTATGGGAATGATGGCTTT 0.328000 21 80 0 0 1 0 0 AP4E1 23431 broad.mit.edu 37 15 51294782 51294782 + Missense_Mutation SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr15:51294782C>G ENST00000261842.5 + 21 3443 c.3337C>G c.(3337-3339)Ctg>Gtg p.L1113V AP4E1_ENST00000560508.1_Missense_Mutation_p.L1038V|AP4E1_ENST00000561397.1_3'UTR NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 1113 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) TGTATTAGCCCTGTGGTTCAG 0.458000 35 120 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32822887 32822887 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr2:32822887C>T ENST00000421745.2 + 69 13816 c.13682C>T c.(13681-13683)tCt>tTt p.S4561F NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4561 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) CACTACATGTCTCAGGTGAAA 0.428000 6 28 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A rs28934574 TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr17:7577094G>A ENST00000420246.2 - 8 976 c.844C>T c.(844-846)Cgg>Tgg p.R282W TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 282 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574). 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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(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) TCTGTGCGCCGGTCTCTCCCA 0.557000 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) 9 34 0 0 1 0 0 NFE2L3 9603 broad.mit.edu 37 7 26224177 26224177 + Missense_Mutation SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr7:26224177C>G ENST00000056233.3 + 4 1118 c.859C>G c.(859-861)Ctt>Gtt p.L287V NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 287 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 AGATATTCCTCTTCCAGGCAG 0.403000 32 204 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53669307 53669307 + Missense_Mutation SNP G G C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr19:53669307G>C ENST00000600412.1 - 2 356 c.241C>G c.(241-243)Cag>Gag p.Q81E ZNF665_ENST00000396424.3_Missense_Mutation_p.Q146E Q9H7R5 ZN665_HUMAN zinc finger protein 665 81 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) AGATGTGACTGAAAGCTTACT 0.378000 28 160 0 0 1 0 0 ZC3H7A 29066 broad.mit.edu 37 16 11868313 11868313 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr16:11868313G>A ENST00000396516.2 - 8 879 c.682C>T c.(682-684)Cat>Tat p.H228Y ZC3H7A_ENST00000355758.4_Missense_Mutation_p.H228Y Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 228 nucleus nucleic acid binding|zinc ion binding p.H228Y(1) breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 CCAACTTCATGAGAAAAACTG 0.458000 16 79 0 0 1 0 0 PROKR1 10887 broad.mit.edu 37 2 68882334 68882334 + Missense_Mutation SNP G G C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr2:68882334G>C ENST00000303786.3 + 3 1228 c.808G>C c.(808-810)Gag>Cag p.E270Q PROKR1_ENST00000394342.2_Missense_Mutation_p.E270Q Q8TCW9 PKR1_HUMAN prokineticin receptor 1 270 integral to membrane|plasma membrane neuropeptide Y receptor activity p.E270K(1) endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 ATTCCAGACAGAGCAGATCCG 0.612000 13 69 0 0 1 0 0 IKZF1 10320 broad.mit.edu 37 7 50468225 50468225 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr7:50468225G>A ENST00000331340.3 + 8 1615 c.1460G>A c.(1459-1461)cGt>cAt p.R487H IKZF1_ENST00000439701.1_Missense_Mutation_p.R445H|IKZF1_ENST00000357364.4_Missense_Mutation_p.R400H|IKZF1_ENST00000359197.5_Missense_Mutation_p.R445H|IKZF1_ENST00000343574.5_Missense_Mutation_p.R400H|IKZF1_ENST00000438033.1_Missense_Mutation_p.R400H|IKZF1_ENST00000346667.4_Missense_Mutation_p.R257H|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000349824.4_Missense_Mutation_p.R344H NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 487 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(28) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) CACGGCTTCCGTGATCCTTTT 0.577000 """D,T""" BCL6 """ALL, DLBCL""" 33 46 0 0 1 0 0 TXNDC16 57544 broad.mit.edu 37 14 52978086 52978086 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr14:52978086G>A ENST00000281741.4 - 9 999 c.628C>T c.(628-630)Cat>Tat p.H210Y TXNDC16_ENST00000554399.1_Intron NM_001160047.1|NM_020784.2 NP_001153519.1|NP_065835.2 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 210 cell redox homeostasis extracellular region breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1) 21 Breast(41;0.0716) AAGTAGAGATGTGCATATTCC 0.343000 19 99 0 0 1 0 0 GOLM1 51280 broad.mit.edu 37 9 88694257 88694257 + Splice_Site SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr9:88694257C>T ENST00000388712.3 - 2 148 c.e2-1 GOLM1_ENST00000388711.3_Splice_Site NM_016548.3 NP_057632.2 Q8NBJ4 GOLM1_HUMAN golgi membrane protein 1 Golgi apparatus|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 CGCTGAGAATCTGCCAAGTAA 0.502000 20 57 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 99640583 99640583 + Missense_Mutation SNP C C A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr12:99640583C>A ENST00000547776.2 - 13 1815 c.1816G>T c.(1816-1818)Gca>Tca p.A606S ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.A606S|ANKS1B_ENST00000547010.1_Missense_Mutation_p.A186S NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 606 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) AGCAGGCCTGCAAATTGCCCA 0.453000 9 199 2.17888e-05 2.28044e-05 1 1 0 NFASC 23114 broad.mit.edu 37 1 204957855 204957855 + Silent SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr1:204957855C>T ENST00000367172.4 + 25 3337 c.3009C>T c.(3007-3009)taC>taT p.Y1003Y NFASC_ENST00000339876.6_Silent_p.Y896Y|NFASC_ENST00000367171.4_Silent_p.Y988Y|NFASC_ENST00000404907.1_Silent_p.Y999Y|NFASC_ENST00000360049.4_Silent_p.Y999Y|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000401399.1_Silent_p.Y896Y|NFASC_ENST00000338515.6_Silent_p.Y1003Y|NFASC_ENST00000513543.1_Silent_p.Y999Y|NFASC_ENST00000367169.4_Silent_p.Y896Y|NFASC_ENST00000367170.4_Silent_p.Y1003Y|NFASC_ENST00000539706.1_Silent_p.Y999Y|NFASC_ENST00000404076.1_Silent_p.Y982Y|NFASC_ENST00000338586.6_Silent_p.Y1003Y O94856 NFASC_HUMAN neurofascin 1003 Fibronectin type-III 4. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TGTCACGCTACCGCTTTACCC 0.582000 21 76 0 0 1 0 0 FNIP1 96459 broad.mit.edu 37 5 131014771 131014771 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr5:131014771G>A ENST00000307968.7 - 11 1215 c.1216C>T c.(1216-1218)Cgt>Tgt p.R406C FNIP1_ENST00000307954.8_Missense_Mutation_p.R389C|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.R434C|FNIP1_ENST00000510461.1_Missense_Mutation_p.R434C NM_001008738.2 NP_001008738.2 folliculin interacting protein 1 p.R434C(1) NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) TTCATGAAACGATAGCAAAGG 0.348000 16 54 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57104531 57104531 + Splice_Site SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr16:57104531G>A ENST00000436936.1 + 38 4956 c.e38+1 NLRC5_ENST00000262510.6_Splice_Site|NLRC5_ENST00000539144.1_Splice_Site|NLRC5_ENST00000308149.7_Splice_Site Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) AGAGGCTGGAGTAAGTAGTGA 0.532000 33 42 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 93003946 93003946 + Silent SNP A A G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr8:93003946A>G ENST00000523629.1 - 7 1366 c.912T>C c.(910-912)gaT>gaC p.D304D RUNX1T1_ENST00000422361.2_Silent_p.D267D|RUNX1T1_ENST00000518844.1_Silent_p.D277D|RUNX1T1_ENST00000436581.2_Silent_p.D315D|RUNX1T1_ENST00000360348.2_Silent_p.D267D|RUNX1T1_ENST00000265814.3_Silent_p.D304D|RUNX1T1_ENST00000396218.1_Silent_p.D277D|RUNX1T1_ENST00000520724.1_Silent_p.D267D NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 304 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) CAATGGCCATATCATCCAAAC 0.567000 99 130 0 0 1 0 0 MAGEB1 4112 broad.mit.edu 37 X 30269282 30269282 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chrX:30269282G>A ENST00000378981.3 + 4 993 c.672G>A c.(670-672)atG>atA p.M224I MAGEB1_ENST00000397548.2_Missense_Mutation_p.M224I|MAGEB1_ENST00000397550.1_Missense_Mutation_p.M224I NM_002363.4 NP_002354.2 P43366 MAGB1_HUMAN melanoma antigen family B, 1 224 MAGE. p.M224I(1) NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 32 GGAAATTCATGAATGTGTTGG 0.478000 14 42 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120476222 120476222 + Nonsense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr9:120476222C>T ENST00000355622.6 + 3 1917 c.1816C>T c.(1816-1818)Cga>Tga p.R606* TLR4_ENST00000394487.4_Nonsense_Mutation_p.R566*|TLR4_ENST00000472304.1_3'UTR NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 606 LRRCT. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 GGAAGTTGAACGAATGGAATG 0.443000 31 59 0 0 1 0 0 BDH2 56898 broad.mit.edu 37 4 104016382 104016382 + Silent SNP A A C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr4:104016382A>C ENST00000296424.4 - 3 249 c.129T>G c.(127-129)ctT>ctG p.L43L NM_020139.3 NP_064524.3 Q9BUT1 BDH2_HUMAN 3-hydroxybutyrate dehydrogenase, type 2 43 fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process cytoplasm 3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.02e-08) CCAGTTCCTGAAGTTTGGACT 0.403000 21 135 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr6:29910607G>C ENST00000396634.1 + 4 488 c.147G>C c.(145-147)gtG>gtC p.V49V HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.V49V(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCATCGCCGTGGGCTACGTGG 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 6 54 0 0 1 0 0 RPA1 6117 broad.mit.edu 37 17 1792040 1792040 + Silent SNP G G A rs145553070 byFrequency TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr17:1792040G>A ENST00000254719.5 + 14 1556 c.1446G>A c.(1444-1446)ccG>ccA p.P482P NM_002945.3 NP_002936.1 P27694 RFA1_HUMAN replication protein A1, 70kDa 482 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|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 actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body metal ion binding|protein binding|single-stranded DNA binding breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2) 10 AAGCCTGCCCGACTCAGGACT 0.483000 Nucleotide excision repair (NER) 14 87 0 0 1 0 0 HTR3A 3359 broad.mit.edu 37 11 113857259 113857259 + Missense_Mutation SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr11:113857259C>G ENST00000504030.2 + 7 1170 c.725C>G c.(724-726)cCc>cGc p.P242R HTR3A_ENST00000355556.2_Missense_Mutation_p.P248R|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000506841.2_Missense_Mutation_p.P242R|HTR3A_ENST00000299961.5_Missense_Mutation_p.P227R|HTR3A_ENST00000375498.2_Missense_Mutation_p.P248R P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 242 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) CGCCGGCGGCCCCTCTTCTAT 0.612000 16 81 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152348774 152348774 + Missense_Mutation SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr2:152348774C>G ENST00000427231.2 - 178 25097 c.24895G>C c.(24895-24897)Gag>Cag p.E8299Q RIF1_ENST00000457745.1_Intron|NEB_ENST00000604864.1_Missense_Mutation_p.E8299Q|NEB_ENST00000397336.2_Missense_Mutation_p.E274Q|NEB_ENST00000172853.10_Missense_Mutation_p.E6443Q|NEB_ENST00000409198.1_Missense_Mutation_p.E6443Q|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000397345.3_Missense_Mutation_p.E8299Q|NEB_ENST00000509223.2_Missense_Mutation_p.E212Q|NEB_ENST00000603639.1_Missense_Mutation_p.E8299Q NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 6443 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) TTGTGTTTCTCAAAGTCTTCA 0.398000 5 78 0 0 1 0 0 STAT5A 6776 broad.mit.edu 37 17 40453383 40453383 + Silent SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr17:40453383G>A ENST00000345506.4 + 10 1722 c.1080G>A c.(1078-1080)ctG>ctA p.L360L STAT5A_ENST00000546010.2_Silent_p.L330L|STAT5A_ENST00000590949.1_Silent_p.L360L|STAT5A_ENST00000588868.1_Silent_p.L360L|STAT5A_ENST00000452307.2_Silent_p.L360L NM_003152.3 NP_003143.2 P42229 STA5A_HUMAN signal transducer and activator of transcription 5A 360 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) GCGGGAAGCTGAACGTGCACA 0.552000 14 133 0 0 1 0 0 OR2AK2 391191 broad.mit.edu 37 1 248129523 248129523 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr1:248129523C>T ENST00000366480.3 + 1 989 c.890C>T c.(889-891)aCa>aTa p.T297I OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ACCATTGTCACACCTCTACTG 0.473000 25 46 0 0 1 0 0 FAAH2 158584 broad.mit.edu 37 X 57367816 57367816 + Silent SNP T T G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chrX:57367816T>G ENST00000374900.4 + 5 855 c.735T>G c.(733-735)ccT>ccG p.P245P NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 245 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 GACACAAGCCTTCTCCAGGTA 0.418000 HNSCC(52;0.14) 8 323 0 0 1 0 0 KNTC1 9735 broad.mit.edu 37 12 123070213 123070213 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr12:123070213G>A ENST00000333479.7 + 37 3742 c.3565G>A c.(3565-3567)Gaa>Aaa p.E1189K KNTC1_ENST00000450485.2_Intron NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 1189 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) AGATCCATATGAAGAGTGGTC 0.403000 15 76 0 0 1 0 0 OPRL1 4987 broad.mit.edu 37 20 62729328 62729328 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr20:62729328C>T ENST00000349451.3 + 5 819 c.407C>T c.(406-408)aCc>aTc p.T136I OPRL1_ENST00000355631.4_Missense_Mutation_p.T136I|OPRL1_ENST00000336866.2_Missense_Mutation_p.T136I NM_001200019.1 NP_001186948.1 P41146 OPRX_HUMAN opiate receptor-like 1 136 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) AACATGTTCACCAGCACCTTC 0.582000 5 138 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56473226 56473226 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr6:56473226C>T ENST00000370754.5 - 39 6100 c.6101G>A c.(6100-6102)cGa>cAa p.R2034Q DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.R1856Q|DST_ENST00000446842.2_Missense_Mutation_p.R1530Q|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.R1856Q|DST_ENST00000312431.6_Missense_Mutation_p.R1856Q Q03001 DYST_HUMAN dystonin 1856 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AACATAGCCTCGCTGAGCTTC 0.438000 31 54 0 0 1 0 0 TMCC2 9911 broad.mit.edu 37 1 205240255 205240255 + Silent SNP C C A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr1:205240255C>A ENST00000358024.3 + 4 2079 c.1690C>A c.(1690-1692)Cgg>Agg p.R564R TMCC2_ENST00000329800.7_Silent_p.R324R|TMCC2_ENST00000330675.7_Silent_p.R339R|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Silent_p.R486R NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 564 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) CAGGTACGAGCGGCTGGAGGA 0.552000 10 24 7.48243e-07 7.96621e-07 1 1 0 YDJC 150223 broad.mit.edu 37 22 21984245 21984245 + Missense_Mutation SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr22:21984245C>G ENST00000292778.6 - 1 108 c.59G>C c.(58-60)cGa>cCa p.R20P YDJC_ENST00000398873.3_Missense_Mutation_p.R20P NM_001017964.1 NP_001017964.1 A8MPS7 YDJC_HUMAN YdjC homolog (bacterial) 20 carbohydrate metabolic process hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds Colorectal(54;0.105) CTCATCGCGTCGCGGGCAGTA 0.716000 6 21 0 0 1 0 0 STAT5A 6776 broad.mit.edu 37 17 40453429 40453429 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr17:40453429G>A ENST00000345506.4 + 10 1768 c.1126G>A c.(1126-1128)Gag>Aag p.E376K STAT5A_ENST00000546010.2_Missense_Mutation_p.E346K|STAT5A_ENST00000590949.1_Missense_Mutation_p.E376K|STAT5A_ENST00000588868.1_Missense_Mutation_p.E376K|STAT5A_ENST00000452307.2_Missense_Mutation_p.E376K NM_003152.3 NP_003143.2 P42229 STA5A_HUMAN signal transducer and activator of transcription 5A 376 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) CATCATCAGTGAGCAGCAGGC 0.587000 16 99 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18866198 18866198 + Silent SNP G G T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr16:18866198G>T ENST00000446231.2 - 30 4675 c.4263C>A c.(4261-4263)ctC>ctA p.L1421L SMG1_ENST00000389467.3_Silent_p.L1421L Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 1421 FAT.|Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 CTAATTCCATGAGATGGCTTC 0.418000 13 101 0.000151284 0.000157668 1 1 0 CAND1 55832 broad.mit.edu 37 12 67692788 67692788 + Missense_Mutation SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr12:67692788C>G ENST00000545606.1 + 7 1350 c.913C>G c.(913-915)Ctt>Gtt p.L305V NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 305 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) TCTTAAATATCTTACCTATGA 0.318000 4 37 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61986443 61986443 + Silent SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr13:61986443G>A ENST00000409186.1 - 5 3894 c.1789C>T c.(1789-1791)Ctg>Ttg p.L597L PCDH20_ENST00000409204.4_Silent_p.L597L Q8N6Y1 PCD20_HUMAN protocadherin 20 570 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) TCTCGGTCCAGCTGAGTAGAA 0.473000 23 57 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716095 13716095 + Silent SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr12:13716095G>A ENST00000279593.3 - 13 4286 c.4077C>T c.(4075-4077)gcC>gcT p.A1359A NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1359 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGTGATGTCCGGCAGTGGGCA 0.587000 31 35 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3900963 3900963 + Missense_Mutation SNP T T C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr16:3900963T>C ENST00000262367.5 - 2 942 c.133A>G c.(133-135)Ata>Gta p.I45V CREBBP_ENST00000382070.3_Missense_Mutation_p.I45V NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 45 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CCATTGGGTATCAGCTCATCA 0.408000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 17 93 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52659265 52659265 + Silent SNP G G C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr15:52659265G>C ENST00000399231.3 - 23 3366 c.3123C>G c.(3121-3123)ctC>ctG p.L1041L MYO5A_ENST00000358212.6_Silent_p.L1041L|MYO5A_ENST00000553916.1_Silent_p.L1041L|MYO5A_ENST00000356338.6_Silent_p.L1041L|MYO5A_ENST00000399233.2_Silent_p.L1041L NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 1041 actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) TGCGGTGATTGAGGGCTTCTT 0.418000 14 56 0 0 1 0 0 ATG4D 84971 broad.mit.edu 37 19 10657529 10657529 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr19:10657529G>A ENST00000309469.4 + 4 681 c.508G>A c.(508-510)Gag>Aag p.E170K ATG4D_ENST00000540862.1_Intron NM_032885.4 NP_116274.3 Q86TL0 ATG4D_HUMAN autophagy related 4D, cysteine peptidase 170 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity p.E170K(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 19 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) GACATGGGCCGAGGGCATGGG 0.647000 34 41 0 0 1 0 0 CNOT6L 246175 broad.mit.edu 37 4 78650133 78650133 + Missense_Mutation SNP A A G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr4:78650133A>G ENST00000504123.1 - 10 1257 c.1127T>C c.(1126-1128)aTg>aCg p.M376T CNOT6L_ENST00000264903.4_Missense_Mutation_p.M376T Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 376 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 9 GACAAACATCATGGTCTGGAT 0.473000 19 114 0 0 1 0 0 ELL2 22936 broad.mit.edu 37 5 95234177 95234177 + Missense_Mutation SNP G G C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr5:95234177G>C ENST00000237853.4 - 8 1641 c.1292C>G c.(1291-1293)tCt>tGt p.S431C ELL2_ENST00000431061.2_Missense_Mutation_p.S181C NM_012081.5 NP_036213.2 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 431 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) AGAAGTCCTAGAGGTATATTT 0.448000 84 85 0 0 1 0 0 FGF17 8822 broad.mit.edu 37 8 21905600 21905600 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr8:21905600G>A ENST00000359441.3 + 5 994 c.491G>A c.(490-492)cGc>cAc p.R164H FGF17_ENST00000518533.1_Missense_Mutation_p.R153H|FGF17_ENST00000521709.1_3'UTR NM_003867.2 NP_003858.1 O60258 FGF17_HUMAN fibroblast growth factor 17 164 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) CAGGCTTCCCGCAGCCGCCAG 0.647000 14 10 0 0 1 0 0 USP36 57602 broad.mit.edu 37 17 76798577 76798577 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr17:76798577C>T ENST00000312010.6 - 17 3175 c.2851G>A c.(2851-2853)Gag>Aag p.E951K USP36_ENST00000542802.2_Missense_Mutation_p.E951K|USP36_ENST00000449938.2_Missense_Mutation_p.E556K NM_025090.3 NP_079366.3 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 951 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) CTTGGAGACTCTTCCATGGCC 0.532000 10 39 0 0 1 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291308 141291308 + Missense_Mutation SNP A A G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chrX:141291308A>G ENST00000247452.3 - 3 813 c.466T>C c.(466-468)Tac>Cac p.Y156H NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 156 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) TCTGCTTCGTATTTGAGGAGC 0.478000 HNSCC(46;0.14) 50 262 0 0 1 0 0 SLC12A8 84561 broad.mit.edu 37 3 124906188 124906188 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr3:124906188C>T ENST00000423114.2 - 4 369 c.370G>A c.(370-372)Gtc>Atc p.V124I SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.V95I|SLC12A8_ENST00000393469.4_Missense_Mutation_p.V95I A0AV02 S12A8_HUMAN solute carrier family 12, member 8 95 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 CGCTCCCCGACGCCAATGCCA 0.622000 21 34 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54814982 54814982 + Silent SNP C C A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chrX:54814982C>A ENST00000218436.6 - 5 746 c.717G>T c.(715-717)ggG>ggT p.G239G ITIH6_ENST00000498398.1_5'UTR NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 239 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity TGATGCCTGACCCAGAGATGG 0.572000 15 45 0.000219431 0.000227729 1 1 0 CNTN6 27255 broad.mit.edu 37 3 1363491 1363491 + Missense_Mutation SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr3:1363491C>G ENST00000446702.2 + 8 1546 c.919C>G c.(919-921)Ctt>Gtt p.L307V CNTN6_ENST00000539053.1_Missense_Mutation_p.L235V|CNTN6_ENST00000350110.2_Missense_Mutation_p.L307V Q9UQ52 CNTN6_HUMAN contactin 6 307 Ig-like C2-type 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AGGAAGAAACCTTGCAAAGGG 0.358000 18 106 0 0 1 0 0 TNIP1 10318 broad.mit.edu 37 5 150422172 150422172 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr5:150422172C>T ENST00000389378.2 - 11 1651 c.1063G>A c.(1063-1065)Gag>Aag p.E355K TNIP1_ENST00000524280.1_Missense_Mutation_p.E355K|TNIP1_ENST00000518977.1_Missense_Mutation_p.E355K|TNIP1_ENST00000523200.1_Missense_Mutation_p.E355K|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000523338.1_Missense_Mutation_p.E355K|TNIP1_ENST00000315050.7_Missense_Mutation_p.E355K|TNIP1_ENST00000522226.1_Missense_Mutation_p.E355K|TNIP1_ENST00000521591.1_Missense_Mutation_p.E355K|TNIP1_ENST00000520931.1_Missense_Mutation_p.E302K NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4 NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3 Q15025 TNIP1_HUMAN TNFAIP3 interacting protein 1 355 Interacts with Nef. defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3) 23 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGCTCCCGCTCGGCCTCCAGG 0.572000 8 45 0 0 1 0 0 CXorf56 63932 broad.mit.edu 37 X 118678342 118678342 + Missense_Mutation SNP T T A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chrX:118678342T>A ENST00000320339.4 - 4 521 c.250A>T c.(250-252)Act>Tct p.T84S CXorf56_ENST00000371594.4_Missense_Mutation_p.T133S|CXorf56_ENST00000536133.1_Missense_Mutation_p.T119S|CXorf56_ENST00000486230.1_Missense_Mutation_p.T133S|CXorf56_ENST00000476164.1_Missense_Mutation_p.T133S NM_001170569.1 NP_001164040.1 Q9H5V9 CX056_HUMAN chromosome X open reading frame 56 133 protein binding cervix(1)|endometrium(2)|lung(7) 10 TGTTTCTGAGTATATATGTTC 0.403000 43 245 0 0 1 0 0 GGT3P 2679 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 5 37 0 0 1 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677976 37677976 + Missense_Mutation SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr19:37677976C>G ENST00000532828.2 - 5 714 c.463G>C c.(463-465)Gaa>Caa p.E155Q ZNF585B_ENST00000531805.1_Missense_Mutation_p.E100Q|ZNF585B_ENST00000312908.5_Intron|ZNF585B_ENST00000527838.1_Intron|CTC-454I21.3_ENST00000585860.2_Intron NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TAGAGTTTTTCTCCTGTAGGA 0.393000 18 512 0 0 1 0 0 DENND1A 57706 broad.mit.edu 37 9 126214554 126214554 + Splice_Site SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr9:126214554C>T ENST00000373624.2 - 17 1501 c.e17+1 DENND1A_ENST00000542603.1_Splice_Site|DENND1A_ENST00000373618.1_Splice_Site|DENND1A_ENST00000394215.2_Splice_Site|DENND1A_ENST00000373620.3_Splice_Site|DENND1A_ENST00000394219.3_Splice_Site|DENND1A_ENST00000473039.1_Splice_Site NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 CCAGTACTTACGAACTTGTAG 0.378000 10 99 0 0 1 0 0 TRAF3IP1 26146 broad.mit.edu 37 2 239258006 239258006 + Missense_Mutation SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr2:239258006C>G ENST00000373327.4 + 12 1630 c.1408C>G c.(1408-1410)Cgg>Ggg p.R470G TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.R470G|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.R404G NM_015650.3 NP_056465.2 Q8TDR0 MIPT3_HUMAN TNF receptor-associated factor 3 interacting protein 1 470 DISC1-interaction domain. cytoplasm|cytoskeleton protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2) 23 all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182) Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184) AGCCCCTCCCCGGGTCAAACG 0.507000 11 31 0 0 1 0 0 FBXO39 162517 broad.mit.edu 37 17 6684174 6684174 + Silent SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr17:6684174G>A ENST00000321535.4 + 2 1117 c.987G>A c.(985-987)ctG>ctA p.L329L NM_153230.2 NP_694962.1 Q8N4B4 FBX39_HUMAN F-box protein 39 329 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 GACCCACTCTGATAGATCTCC 0.542000 12 55 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369957 20369957 + RNA SNP A A G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr19:20369957A>G ENST00000593655.1 - 0 199 TGCTTTCTGGAGGGTCTACTA 0.403000 5 54 0 0 1 0 0 RSPRY1 89970 broad.mit.edu 37 16 57238645 57238645 + Missense_Mutation SNP G G T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr16:57238645G>T ENST00000537866.1 + 2 948 c.75G>T c.(73-75)gaG>gaT p.E25D RSPRY1_ENST00000394420.4_Missense_Mutation_p.E25D Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 25 extracellular region zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3) 27 CTCTCGAAGAGCACATAGCCC 0.502000 11 166 0.000308642 0.000316326 1 1 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr9:21971120G>A ENST00000304494.5 - 2 508 c.238C>T c.(238-240)Cga>Tga p.R80* RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 80 R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGCACGGGTCGGGTGAGAGTG 0.726000 R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 16 8 0 0 1 0 0 ANXA10 11199 broad.mit.edu 37 4 169060724 169060724 + Missense_Mutation SNP A A G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr4:169060724A>G ENST00000359299.3 + 3 374 c.188A>G c.(187-189)tAt>tGt p.Y63C NM_007193.4 NP_009124.2 Q9UJ72 ANX10_HUMAN annexin A10 63 calcium ion binding|calcium-dependent phospholipid binding endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2) 16 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0325) CAGAGCATGTATGGCCGGGTA 0.418000 9 22 0 0 1 0 0 FRA10AC1 118924 broad.mit.edu 37 10 95458092 95458092 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr10:95458092C>T ENST00000359204.4 - 3 336 c.139G>A c.(139-141)Gcc>Acc p.A47T FRA10AC1_ENST00000536233.1_Missense_Mutation_p.A47T|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.A47T|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.A47T NM_145246.4 NP_660289.2 Q70Z53 F10C1_HUMAN fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 47 nucleus protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1) 14 TGTTTATGGGCCACCTTTCCA 0.348000 22 63 0 0 1 0 0 RAB35 11021 broad.mit.edu 37 12 120541715 120541715 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr12:120541715G>A ENST00000229340.5 - 3 330 c.142C>T c.(142-144)Cgg>Tgg p.R48W RAB35_ENST00000534951.1_Missense_Mutation_p.R48W NM_001167606.1|NM_006861.6 NP_001161078.1|NP_006852.1 Q15286 RAB35_HUMAN RAB35, member RAS oncogene family 48 cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding endometrium(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.248) TCCACGGTCCGGATCTTGAAA 0.622000 33 38 0 0 1 0 0 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5655105 5655105 + Silent SNP C C A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr11:5655105C>A ENST00000354852.5 + 9 1730 c.1557C>A c.(1555-1557)atC>atA p.I519I TRIM6-TRIM34_ENST00000457787.2_Silent_p.I165I|TRIM34_ENST00000429814.2_Silent_p.I165I|TRIM34_ENST00000514226.1_Silent_p.I165I|HBG2_ENST00000380259.2_Intron NM_001003819.3 NP_001003819.1 B2RNG4 B2RNG4_HUMAN 519 intracellular zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) AAGCTGACATCAGAGAAGAGA 0.473000 6 40 0.0215528 0.0216404 1 1 0 TLR8 51311 broad.mit.edu 37 X 12939373 12939373 + Silent SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chrX:12939373G>A ENST00000218032.6 + 2 2301 c.2214G>A c.(2212-2214)ctG>ctA p.L738L TLR8_ENST00000311912.5_Silent_p.L756L NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 738 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TCAGTAGTCTGAAGCACCTCG 0.423000 24 187 0 0 1 0 0 TIGD3 220359 broad.mit.edu 37 11 65124617 65124617 + Silent SNP A A G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr11:65124617A>G ENST00000309880.5 + 2 1545 c.1338A>G c.(1336-1338)gaA>gaG p.E446E NM_145719.2 NP_663771.1 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 446 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 GGTGGTTTGAATGCAACAGCA 0.577000 28 49 0 0 1 0 0 COX15 1355 broad.mit.edu 37 10 101474348 101474348 + Missense_Mutation SNP T T G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr10:101474348T>G ENST00000016171.5 - 9 1279 c.1229A>C c.(1228-1230)aAa>aCa p.K410T CUTC_ENST00000493385.1_Intron|COX15_ENST00000370483.5_Intron Q7KZN9 COX15_HUMAN cytochrome c oxidase assembly homolog 15 (yeast) 410 heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(252;0.234) Epithelial(162;3.08e-10)|all cancers(201;2.43e-08) TAAGAATCATTTTGGGACTCT 0.493000 8 44 0 0 1 0 0 LRIT1 26103 broad.mit.edu 37 10 85997337 85997337 + Silent SNP G G T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr10:85997337G>T ENST00000372105.3 - 2 249 c.228C>A c.(226-228)ggC>ggA p.G76G NM_015613.2 NP_056428.1 Q9P2V4 LRIT1_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 76 integral to endoplasmic reticulum membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 TGAAGGCCTCGCCAGGAACCC 0.701000 12 45 0.000978159 0.000998369 1 1 0 TRAK2 66008 broad.mit.edu 37 2 202245628 202245628 + Missense_Mutation SNP G G C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr2:202245628G>C ENST00000332624.3 - 16 2811 c.2383C>G c.(2383-2385)Cga>Gga p.R795G NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 795 Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 AGATGCACTCGAGGCTCAAAG 0.532000 18 90 0 0 1 0 0 CTSF 8722 broad.mit.edu 37 11 66335131 66335131 + Silent SNP G G C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr11:66335131G>C ENST00000310325.5 - 3 424 c.315C>G c.(313-315)ctC>ctG p.L105L CTSF_ENST00000533168.1_5'UTR NM_003793.3 NP_003784.2 Q9UBX1 CATF_HUMAN cathepsin F 105 proteolysis lysosome cysteine-type endopeptidase activity endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 19 GGAAGCTGCAGAGCTGGAGGG 0.607000 7 45 0 0 1 0 0 KLHL38 340359 broad.mit.edu 37 8 124664012 124664012 + Missense_Mutation SNP G G C TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr8:124664012G>C ENST00000325995.7 - 1 1178 c.1155C>G c.(1153-1155)atC>atG p.I385M CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 385 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 CGATGGAGAAGATGAAGTTCT 0.557000 6 157 0 0 1 0 0 GALNT10 55568 broad.mit.edu 37 5 153796440 153796440 + Missense_Mutation SNP T T G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr5:153796440T>G ENST00000297107.6 + 12 1857 c.1720T>G c.(1720-1722)Ttc>Gtc p.F574V GALNT10_ENST00000377661.2_Missense_Mutation_p.F512V|GALNT10_ENST00000377657.3_Missense_Mutation_p.F247V|SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 574 Ricin B-type lectin. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) CCATAGGATCTTCATGAACAC 0.488000 7 91 0 0 1 0 0 SLC4A2 6522 broad.mit.edu 37 7 150771302 150771302 + Silent SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr7:150771302G>A ENST00000485713.1 + 17 3752 c.2712G>A c.(2710-2712)tcG>tcA p.S904S SLC4A2_ENST00000413384.2_Silent_p.S904S|SLC4A2_ENST00000392826.2_Silent_p.S895S|SLC4A2_ENST00000310317.5_Silent_p.S822S|SLC4A2_ENST00000461735.1_Silent_p.S890S NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 904 Membrane (anion exchange). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCCTGCTGTCGCTGGTGCTCA 0.667000 9 73 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49445325 49445325 + Missense_Mutation SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr12:49445325G>A ENST00000301067.7 - 10 2140 c.2141C>T c.(2140-2142)tCg>tTg p.S714L NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGACATGAGCGAGTCCTCCGG 0.682000 29 152 0 0 1 0 0 IL17RC 84818 broad.mit.edu 37 3 9974768 9974768 + Missense_Mutation SNP C C T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr3:9974768C>T ENST00000295981.3 + 19 2085 c.1867C>T c.(1867-1869)Cgt>Tgt p.R623C IL17RC_ENST00000413608.1_Missense_Mutation_p.R539C|IL17RC_ENST00000455057.1_Missense_Mutation_p.R520C|IL17RC_ENST00000416074.2_Missense_Mutation_p.R378C|IL17RC_ENST00000383812.4_Missense_Mutation_p.R537C|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Missense_Mutation_p.R552C NM_153461.3 NP_703191.1 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C 623 SEFIR. 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 GTGGAGCCGTCGTGAACTGAG 0.706000 OREG0015383 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 17 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155886422 155886423 + Frame_Shift_Del DEL CT CT - TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr1:155886422_155886423delCT ENST00000368320.3 - 12 1571_1572 c.1546_1547delAG c.(1546-1548)gfs p.R516fs KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs Q7Z7F0 K0907_HUMAN KIAA0907 516 p.R516fs*21(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TTACCTGTCCCTCTCTCTCTCT 0.396 8 150 --- --- --- --- CASP8 841 broad.mit.edu 37 2 202136345 202136348 + Splice_Site DEL GTAA GTAA - TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr2:202136345_202136348delGTAA ENST00000358485.4 + 3 784 c.e3+1 CASP8_ENST00000392266.3_Splice_Site|CASP8_ENST00000392258.3_Splice_Site|CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000432109.2_Splice_Site NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 TGATGACATGGTAAGACCTGGTAT 0.417 HNSCC(4;0.00038) 14 45 --- --- --- --- UGT2A2 574537 broad.mit.edu 37 4 70504697 70504697 + Frame_Shift_Del DEL T T - TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr4:70504697delT ENST00000457664.2 - 1 661 c.662delA c.(661-663)atfs p.N221fs UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000514019.1_Frame_Shift_Del_p.N422fs|UGT2A1_ENST00000286604.4_Intron NM_001105677.2 NP_001099147.2 AGATATGGTATTTTTAATCCT 0.398 8 38 --- --- --- --- LINC01331 104310351 broad.mit.edu 37 5 73726286 73726286 + RNA DEL A A - rs148954741 TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr5:73726286delA ENST00000507781.1 - 0 422 acagccacccaacgtgatgag 0.567 6 1 --- --- --- --- FAT2 2196 broad.mit.edu 37 5 150889584 150889602 + Frame_Shift_Del DEL GTCTCCTGTGTAAGGATGA GTCTCCTGTGTAAGGATGA - TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr5:150889584_150889602delGTCTCCTGTGTAAGGATGA ENST00000261800.5 - 21 12051_12069 c.12039_12057delTCATCCTTACACAGGAGAC c.(12037-12057)ccfs p.PHPYTGD4013fs CTC-251D13.1_ENST00000606930.1_RNA NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 4013 EGF-like 2. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGATTACCTGTCTCCTGTGTAAGGATGAGGGCAGTTAC 0.548 48 128 --- --- --- --- HLA-A 3105 broad.mit.edu 37 6 29910692 29910693 + Frame_Shift_Ins INS - - A rs41559716 by1000genomes TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr6:29910692_29910693insA ENST00000396634.1 + 4 573_574 c.232_233insA c.(232-234)ggafs p.G78fs HLA-A_ENST00000376806.5_Frame_Shift_Ins_p.G78fs|HLA-A_ENST00000376809.5_Frame_Shift_Ins_p.G78fs|HLA-A_ENST00000376802.2_Frame_Shift_Ins_p.G78fs P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2)|p.Q78*(1) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 GTGGATAGAGCAGGAGGGGCCG 0.658 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 9 48 --- --- --- --- ZNF292 23036 broad.mit.edu 37 6 87968210 87968211 + Frame_Shift_Ins INS - - A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr6:87968210_87968211insA ENST00000369577.3 + 8 4906_4907 c.4863_4864insA c.(4861-4866)aaaaaafs p.KK1621fs ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.KK1616fs NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1621 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) GTCATTTAAATAAAAAGGGAAA 0.381 7 35 --- --- --- --- TRIM4 89122 broad.mit.edu 37 7 99489911 99489913 + In_Frame_Del DEL AGA AGA - TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr7:99489911_99489913delAGA ENST00000355947.2 - 7 1505_1507 c.1376_1378delTCT c.(1375-1380)tac>t p.FY459del TRIM4_ENST00000349062.2_In_Frame_Del_p.FY433del NM_033017.3 NP_148977.2 Q9C037 TRIM4_HUMAN tripartite motif containing 4 459 B30.2/SPRY. protein trimerization cytoplasm|plasma membrane zinc ion binding p.F459S(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 17 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) ACAGCGCTGTAGAAGGAGACATT 0.532 45 165 --- --- --- --- ZFHX4 79776 broad.mit.edu 37 8 77754951 77754951 + Frame_Shift_Del DEL A A - TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr8:77754951delA ENST00000521891.2 + 6 3903 c.3455delA c.(3454-3456)gafs p.E1152fs ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.E1117fs|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.E1126fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.E1117fs NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1117 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GAGGACGATGAAAAAGACACA 0.433 HNSCC(33;0.089) 2 4 --- --- --- --- GPR19 2842 broad.mit.edu 37 12 12814274 12814274 + Frame_Shift_Del DEL T T - TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr12:12814274delT ENST00000540510.1 - 2 1301 c.1109delA c.(1108-1110)acfs p.N370fs GPR19_ENST00000332427.2_Frame_Shift_Del_p.N370fs Q15760 GPR19_HUMAN G protein-coupled receptor 19 370 integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.048) GCCAACGTAGTTTTTTTTGGC 0.398 7 229 --- --- --- --- KDELC1 79070 broad.mit.edu 37 13 103443722 103443722 + Frame_Shift_Del DEL T T - TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr13:103443722delT ENST00000376004.4 - 5 1067 c.731delA c.(730-732)agfs p.K245fs KDELC1_ENST00000460338.1_5'UTR NM_024089.2 NP_076994.2 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 245 endoplasmic reticulum lumen central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) ATTGGATTTCTTTTTTTCCAA 0.418 8 983 --- --- --- --- GOLGA6B 55889 broad.mit.edu 37 15 72957311 72957313 + In_Frame_Del DEL GAG GAG - TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr15:72957311_72957313delGAG ENST00000421285.3 + 14 1528_1530 c.1528_1530delGAG c.(1528-1530)del p.E513del NM_018652.4 NP_061122.4 A6NDN3 GOG6B_HUMAN golgin A6 family, member B 513 NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 16 TCTGGACAGTGAGGAGGAGGAGG 0.635 2 4 --- --- --- --- KCTD1 284252 broad.mit.edu 37 18 24128325 24128327 + In_Frame_Del DEL TCC TCC - TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr18:24128325_24128327delTCC ENST00000417602.1 - 1 173_175 c.174_176delGGA c.(172-177)gaa>ga p.EE62del KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000579973.1_Intron NM_001142730.2 NP_001136202.1 Q719H9 KCTD1_HUMAN potassium channel tetramerization domain containing 1 0 BTB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|voltage-gated potassium channel complex transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3) 12 all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848) Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05) ctcctcctcttcctcctcctcct 0.724 2 4 --- --- --- --- WDR62 284403 broad.mit.edu 37 19 36583666 36583668 + In_Frame_Del DEL GCA GCA - TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chr19:36583666_36583668delGCA ENST00000401500.2 + 19 2321_2323 c.2286_2288delGCA c.(2284-2289)cgg>cg p.RQ762del WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 762 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TTGACCACCGGCAGCAGCAGCAG 0.616 7 663 --- --- --- --- CNKSR2 22866 broad.mit.edu 37 X 21670433 21670433 + Frame_Shift_Del DEL G G - TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c62fe6c-36a1-427c-bc96-9beb9f8468bb 56e2c4b0-114d-40f4-aa85-753b0df44efd g.chrX:21670433delG ENST00000425654.2 + 21 3289 c.2809delG c.(2809-2811)ggfs p.G937fs CNKSR2_ENST00000379510.3_Frame_Shift_Del_p.G967fs NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 967 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 GGCCAGAGAAGGGGAAGTAGC 0.348 37 106 --- --- --- ---