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 AIFM1 9131 broad.mit.edu 37 X 129299534 129299534 + Missense_Mutation SNP G G A TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chrX:129299534G>A ENST00000287295.3 - 1 327 c.97C>T c.(97-99)Cgg>Tgg p.R33W AIFM1_ENST00000535724.1_5'UTR|AIFM1_ENST00000346424.2_Missense_Mutation_p.R33W|AIFM1_ENST00000319908.3_Missense_Mutation_p.R33W NM_001130847.3|NM_004208.3 NP_001124319.1|NP_004199.1 O95831 AIFM1_HUMAN apoptosis-inducing factor, mitochondrion-associated, 1 33 activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 CCTGGGAGCCGGTTCCTCTGC 0.672000 4 8 0 0 1 0 0 KRT33B 3884 broad.mit.edu 37 17 39521743 39521743 + Silent SNP G G A TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr17:39521743G>A ENST00000251646.3 - 4 700 c.651C>T c.(649-651)ccC>ccT p.P217P NM_002279.4 NP_002270.1 Q14525 KT33B_HUMAN keratin 33B 217 Linker 12.|Rod. intermediate filament protein binding|structural molecule activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000496) GGTCCACAGCGGGAGCAGCGT 0.562000 5 40 0 0 1 0 0 PSMD11 5717 broad.mit.edu 37 17 30806375 30806375 + Missense_Mutation SNP A A G rs1803015 TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr17:30806375A>G ENST00000261712.3 + 10 1282 c.1019A>G c.(1018-1020)gAg>gGg p.E340G PSMD11_ENST00000457654.2_Missense_Mutation_p.E340G NM_001270482.1|NM_002815.3 NP_001257411.1|NP_002806.2 O00231 PSD11_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 340 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.109) CGAGTCATTGAGCCTTTTTCC 0.507000 76 8 0 0 1 0 0 NDUFA13 51079 broad.mit.edu 37 19 19626917 19626917 + Missense_Mutation SNP C C T TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr19:19626917C>T ENST00000252576.5 + 1 119 c.119C>T c.(118-120)tCg>tTg p.S40L NDUFA13_ENST00000507754.3_5'UTR NM_015965.6 NP_057049.5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1) 12 CCCGCGCGGTCGGATAGTTAC 0.622000 13 52 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14517813 14517813 + Missense_Mutation SNP T T C TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr7:14517813T>C ENST00000403951.2 - 21 2230 c.1811A>G c.(1810-1812)gAa>gGa p.E604G DGKB_ENST00000402815.1_Missense_Mutation_p.E603G|DGKB_ENST00000399322.3_Missense_Mutation_p.E604G|DGKB_ENST00000444700.2_Missense_Mutation_p.E585G|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Missense_Mutation_p.E604G|DGKB_ENST00000407950.1_Missense_Mutation_p.E596G|DGKB_ENST00000406247.3_Missense_Mutation_p.E604G Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 604 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) TGGGTGTTTTTCTCTCATGAT 0.343000 4 5 0 0 1 0 0 DPPA3 359787 broad.mit.edu 37 12 7867853 7867853 + Missense_Mutation SNP G G T TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr12:7867853G>T ENST00000345088.2 + 2 274 c.157G>T c.(157-159)Gtt>Ttt p.V53F NM_199286.2 NP_954980.1 Q6W0C5 DPPA3_HUMAN developmental pluripotency associated 3 53 cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2) 8 Kidney(36;0.0887) TAGCGAATCTGTTTCCCCTCT 0.468000 28 98 4.87955e-14 5.29308e-14 1 1 0 KIF26B 55083 broad.mit.edu 37 1 245530500 245530500 + Missense_Mutation SNP C C T TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr1:245530500C>T ENST00000407071.2 + 3 1270 c.830C>T c.(829-831)gCg>gTg p.A277V KIF26B_ENST00000479506.1_3'UTR NM_018012.3 NP_060482.2 Q2KJY2 KI26B_HUMAN kinesin family member 26B 277 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) AGCAATGGGGCGGAAAAGAAG 0.617000 7 13 0 0 1 0 0 CLIP2 7461 broad.mit.edu 37 7 73811495 73811495 + Missense_Mutation SNP G G C TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr7:73811495G>C ENST00000223398.6 + 14 3139 c.2812G>C c.(2812-2814)Gag>Cag p.E938Q CLIP2_ENST00000395060.1_Missense_Mutation_p.E938Q|CLIP2_ENST00000361545.5_Missense_Mutation_p.E903Q NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 938 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 ACACAAGGCTGAGTGGCGGAT 0.637000 13 101 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 9 7 3.86212e-05 3.9867e-05 1 1 0 CEP89 84902 broad.mit.edu 37 19 33414440 33414440 + Missense_Mutation SNP C C T TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr19:33414440C>T ENST00000305768.4 - 12 1261 c.1173G>A c.(1171-1173)atG>atA p.M391I NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa 391 centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 TAAACATTCTCATTTCCTCCT 0.388000 42 282 0 0 1 0 0 LMBRD2 92255 broad.mit.edu 37 5 36118007 36118007 + Nonsense_Mutation SNP C C A TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr5:36118007C>A ENST00000296603.4 - 10 1594 c.1132G>T c.(1132-1134)Gaa>Taa p.E378* NM_001007527.1 NP_001007528.1 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 378 integral to membrane breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAAAGACATTCCCAGTACCAT 0.358000 22 7 6.33239e-15 6.98746e-15 1 1 0 TCF15 6939 broad.mit.edu 37 20 590483 590483 + Silent SNP C C T TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr20:590483C>T ENST00000246080.3 - 1 559 c.399G>A c.(397-399)tcG>tcA p.S133S NM_004609.3 NP_004600.2 Q12870 TCF15_HUMAN transcription factor 15 (basic helix-loop-helix) 133 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|lung(2)|prostate(1) 4 Breast(17;0.231) CGTCGTCGGCCGAGTCGCCCA 0.741000 7 6 0 0 1 0 0 TGFBR3 7049 broad.mit.edu 37 1 92178081 92178081 + Nonsense_Mutation SNP C C A TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr1:92178081C>A ENST00000212355.4 - 13 2350 c.1885G>T c.(1885-1887)Gaa>Taa p.E629* TGFBR3_ENST00000525962.1_Nonsense_Mutation_p.E629*|TGFBR3_ENST00000370399.2_Nonsense_Mutation_p.E628* NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 629 ZP. BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) AGTTCTTGTTCAGCCTTAGTA 0.383000 11 34 0.00010058 0.000102176 1 1 0 CYP26A1 0 broad.mit.edu 37 10 94836425 94836425 + Missense_Mutation SNP G G A TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr10:94836425G>A ENST00000371531.1 + 6 1295 c.917G>A c.(916-918)cGg>cAg p.R306Q CYP26A1_ENST00000224356.4_Missense_Mutation_p.R375Q|CYP26A1_ENST00000394139.1_Missense_Mutation_p.R306Q NM_057157.2 NP_476498.1 O43174 CP26A_HUMAN cytochrome P450, family 26, subfamily A, polypeptide 1 375 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Colorectal(252;0.122) GGAGGGTTTCGGGTTGCTCTG 0.403000 15 40 0 0 1 0 0 PIBF1 10464 broad.mit.edu 37 13 73357694 73357694 + Silent SNP T T C TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr13:73357694T>C ENST00000326291.6 + 2 425 c.87T>C c.(85-87)gtT>gtC p.V29V NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 29 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) AAACAACAGTTCCTACGGATG 0.348000 16 74 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103418917 103418917 + Missense_Mutation SNP G G C TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr14:103418917G>C ENST00000361246.2 - 24 3378 c.3090C>G c.(3088-3090)atC>atG p.I1030M NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 1030 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) AGAAGGACTTGATGCTGAACT 0.547000 7 16 0 0 1 0 0 KAL1 3730 broad.mit.edu 37 X 8553429 8553429 + Silent SNP G G A TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chrX:8553429G>A ENST00000262648.3 - 6 884 c.735C>T c.(733-735)gaC>gaT p.D245D NM_000216.2 NP_000207.2 P23352 KALM_HUMAN Kallmann syndrome 1 sequence 245 Fibronectin type-III 1. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity p.D245D(1) breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1) 32 GAACTCGCTCGTCTGTGGTCT 0.488000 36 39 0 0 1 0 0 TMEM63A 9725 broad.mit.edu 37 1 226065190 226065190 + Missense_Mutation SNP A A C TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr1:226065190A>C ENST00000366835.3 - 3 361 c.91T>G c.(91-93)Tat>Gat p.Y31D NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 31 integral to membrane|lysosomal membrane nucleotide binding breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) TTGTAGCAATAGGAGTCGTTG 0.612000 OREG0014291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 22 0 0 1 0 0 ZNF300P1 0 broad.mit.edu 37 5 150310592 150310592 + RNA SNP C C T TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr5:150310592C>T ENST00000520773.1 - 0 2729 GTTGTTCTCCCGTGTGAATTC 0.438000 13 4 0 0 1 0 0 MPO 4353 broad.mit.edu 37 17 56355451 56355451 + Missense_Mutation SNP C C A TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr17:56355451C>A ENST00000340482.3 - 6 1213 c.1037G>T c.(1036-1038)cGc>cTc p.R346L MPO_ENST00000225275.3_Missense_Mutation_p.R314L|MPO_ENST00000578493.1_5'UTR P05164 PERM_HUMAN myeloperoxidase 314 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) CGGGCAGGAGCGGAAGAACGG 0.622000 75 4 3.83446e-41 4.38224e-41 1 1 0 VWF 7450 broad.mit.edu 37 12 6105256 6105256 + Missense_Mutation SNP G G A TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr12:6105256G>A ENST00000261405.5 - 35 6229 c.5975C>T c.(5974-5976)gCc>gTc p.A1992V NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 1992 VWFD 4. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) AGGGCTGCAGGCACCATTATG 0.522000 4 63 0 0 1 0 0 CCDC130 81576 broad.mit.edu 37 19 13873409 13873409 + Missense_Mutation SNP G G A TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr19:13873409G>A ENST00000586600.1 + 11 1221 c.718G>A c.(718-720)Gag>Aag p.E240K CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_Missense_Mutation_p.E240K P13994 CC130_HUMAN coiled-coil domain containing 130 240 response to virus protein binding endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18) TCTAGCCTACGAGGACAAGCA 0.632000 14 15 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661272 22661272 + RNA SNP C C T TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr22:22661272C>T ENST00000426066.1 + 0 360 NR_027293.1 CTGGGATGTACGTCTGCGTTG 0.488000 5 31 0 0 1 0 0 MLH1 4292 broad.mit.edu 37 3 37067374 37067374 + Missense_Mutation SNP G G A TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr3:37067374G>A ENST00000231790.2 + 12 1501 c.1285G>A c.(1285-1287)Gag>Aag p.E429K MLH1_ENST00000435176.1_Missense_Mutation_p.E331K|MLH1_ENST00000536378.1_Missense_Mutation_p.E188K|MLH1_ENST00000455445.2_Missense_Mutation_p.E188K|MLH1_ENST00000539477.1_Missense_Mutation_p.E188K|MLH1_ENST00000458205.2_Missense_Mutation_p.E188K NM_000249.3|NM_001258273.1 NP_000240.1|NP_001245202.1 P40692 MLH1_HUMAN mutL homolog 1 429 Interaction with EXO1. mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.0?(1) NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 127 GCAGCAAGATGAGGAGATGCT 0.517000 1 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian, CNS""" """colorectal, endometrial, ovarian, CNS""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 6 150 0 0 1 0 0 IWS1 55677 broad.mit.edu 37 2 128262839 128262839 + Missense_Mutation SNP C C T TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr2:128262839C>T ENST00000295321.4 - 3 899 c.640G>A c.(640-642)Gag>Aag p.E214K IWS1_ENST00000455721.2_Missense_Mutation_p.E221K|IWS1_ENST00000486662.1_5'UTR|AC010976.2_ENST00000599001.1_RNA NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 214 Glu-rich. transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) GGAAGCTCCTCACTTTCAGAA 0.507000 50 110 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142168367 142168367 + Silent SNP C C T TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr3:142168367C>T ENST00000350721.4 - 47 7960 c.7839G>A c.(7837-7839)ccG>ccA p.P2613P ATR_ENST00000383101.3_Silent_p.P2549P NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2613 FATC. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 CAATAGATAACGGCAGTCCTG 0.398000 Other conserved DNA damage response genes 19 18 0 0 1 0 0 RANBP17 64901 broad.mit.edu 37 5 170648770 170648770 + Missense_Mutation SNP G G A TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr5:170648770G>A ENST00000523189.1 + 22 2512 c.2348G>A c.(2347-2349)cGt>cAt p.R783H RANBP17_ENST00000521759.1_3'UTR NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 783 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGATCCCAGCGTTTGAATTTT 0.328000 T TRD@ ALL 3 30 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152284630 152284630 + Missense_Mutation SNP G G A TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr1:152284630G>A ENST00000368799.1 - 3 2767 c.2732C>T c.(2731-2733)tCa>tTa p.S911L FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 911 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGGTGACGTGACCCTGAGTG 0.572000 Ichthyosis 131 492 0 0 1 0 0 FERD3L 222894 broad.mit.edu 37 7 19184612 19184612 + Missense_Mutation SNP C C T TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr7:19184612C>T ENST00000275461.3 - 1 432 c.374G>A c.(373-375)cGg>cAg p.R125Q AC003986.5_ENST00000452700.1_RNA NM_152898.2 NP_690862.1 Q96RJ6 FER3L_HUMAN Fer3-like bHLH transcription factor 125 Helix-loop-helix motif. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 35 CACCTTCCTCCGCAGCTGGTC 0.587000 27 20 0 0 1 0 0 IGHMBP2 3508 broad.mit.edu 37 11 68700847 68700847 + Missense_Mutation SNP C C T TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr11:68700847C>T ENST00000255078.3 + 9 1427 c.1316C>T c.(1315-1317)aCg>aTg p.T439M NM_002180.2 NP_002171.2 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 439 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CGGACACTGACGGTGCAGTAC 0.642000 5 14 0 0 1 0 0 SERPINH1 871 broad.mit.edu 37 11 75282848 75282848 + Missense_Mutation SNP T T G TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr11:75282848T>G ENST00000524558.1 + 5 2412 c.977T>G c.(976-978)cTg>cGg p.L326R SERPINH1_ENST00000525876.1_Missense_Mutation_p.L109R|SERPINH1_ENST00000358171.3_Missense_Mutation_p.L326R|SERPINH1_ENST00000533603.1_Missense_Mutation_p.L326R P50454 SERPH_HUMAN serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 326 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) GGGCTGGGCCTGACTGAGGCC 0.597000 23 17 0 0 1 0 0 CTC-260F20.3 0 broad.mit.edu 37 19 19627058 19627058 + Missense_Mutation SNP C C T TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr19:19627058C>T ENST00000555938.1 + 1 23 c.11C>T c.(10-12)tCa>tTa p.S4L NDUFA13_ENST00000503283.1_Missense_Mutation_p.S4L|NDUFA13_ENST00000252576.5_Missense_Mutation_p.S87L|NDUFA13_ENST00000428459.2_Missense_Mutation_p.S4L|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000507754.3_Missense_Mutation_p.S4L ATGGCGGCGTCAAAGGTGAAG 0.612000 21 51 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6919630 6919630 + Missense_Mutation SNP C C A TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr19:6919630C>A ENST00000312053.4 + 13 1529 c.1492C>A c.(1492-1494)Cac>Aac p.H498N EMR1_ENST00000250572.8_Missense_Mutation_p.H498N|EMR1_ENST00000450315.3_Missense_Mutation_p.H321N|EMR1_ENST00000381407.5_Missense_Mutation_p.H357N|EMR1_ENST00000381404.4_Missense_Mutation_p.H446N NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 498 Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) CTTCAAAGACCACCAGGCTCC 0.483000 27 57 8.24728e-16 9.26011e-16 1 1 0 EVX2 344191 broad.mit.edu 37 2 176944857 176944857 + Missense_Mutation SNP T T A TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr2:176944857T>A ENST00000308618.4 - 3 1545 c.1409A>T c.(1408-1410)gAc>gTc p.D470V NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 470 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) CGGAGCCTCGTCCCTCTGGTC 0.726000 4 2 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 124985750 124985750 + Missense_Mutation SNP C C G TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr8:124985750C>G ENST00000522917.1 + 7 730 c.524C>G c.(523-525)cCt>cGt p.P175R FER1L6_ENST00000399018.1_Missense_Mutation_p.P175R NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 175 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TACAACCAACCTGGTAAGAAA 0.468000 6 33 0 0 1 0 0 PRAM1 84106 broad.mit.edu 37 19 8555521 8555521 + Silent SNP G G A TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr19:8555521G>A ENST00000423345.4 - 7 2383 c.1863C>T c.(1861-1863)ttC>ttT p.F621F PRAM1_ENST00000255612.3_Silent_p.F620F Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 669 lipid binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 CATTGCTGGTGAACTCGATCA 0.662000 4 25 0 0 1 0 0 MT-ND5 4540 broad.mit.edu 37 MT 12618 12618 + Silent SNP G G A TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chrM:12618G>A ENST00000361567.2 + 1 282 c.282G>A c.(280-282)ttG>ttA p.L94L P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 94 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) CCTGTAGCATTGTTCGTTACA 0.378000 80 1 0 0 1 0 0 KANSL3 55683 broad.mit.edu 37 2 97271234 97271234 + Missense_Mutation SNP C C G TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr2:97271234C>G ENST00000599854.1 - 15 1962 c.1495G>C c.(1495-1497)Gaa>Caa p.E499Q KANSL3_ENST00000441706.2_Missense_Mutation_p.E499Q|KANSL3_ENST00000440133.1_Missense_Mutation_p.E406Q|KANSL3_ENST00000431828.1_Missense_Mutation_p.E586Q|KANSL3_ENST00000487070.1_5'UTR NM_001115016.2 NP_001108488.1 Q9P2N6 K1310_HUMAN KAT8 regulatory NSL complex subunit 3 612 TCTGGTGGTTCTGATGAAATG 0.498000 87 52 0 0 1 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52715971 52715971 + Missense_Mutation SNP C C G TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr19:52715971C>G ENST00000322088.6 + 5 594 c.536C>G c.(535-537)cCc>cGc p.P179R PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 179 PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity p.P179R(21)|p.P179L(5) NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) GATGACACCCCCATGGTGCGG 0.612000 Mis clear cell ovarian carcinoma 37 42 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3235472 3235472 + Missense_Mutation SNP C C T TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chrX:3235472C>T ENST00000217939.6 - 6 6404 c.6250G>A c.(6250-6252)Ggg>Agg p.G2084R NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2084 Ig-like C2-type 5. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GTACCGTCCCCGAGCACCCAG 0.642000 13 10 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170058203 170058203 + Missense_Mutation SNP C C T TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr2:170058203C>T ENST00000263816.3 - 44 8672 c.8387G>A c.(8386-8388)cGt>cAt p.R2796H NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2796 LDL-receptor class A 18. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GATAAACTCACGAGGTATGCA 0.433000 38 30 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946438 16946438 + RNA SNP G G A rs28392876 by1000genomes TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr1:16946438G>A ENST00000412962.1 - 0 1081 GCCTTCCGCCGGGCCAGCAGC 0.672000 3 16 0 0 1 0 0 PITPNC1 26207 broad.mit.edu 37 17 65688807 65688807 + Missense_Mutation SNP G G A TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr17:65688807G>A ENST00000335257.6 + 9 1149 c.802G>A c.(802-804)Gtc>Atc p.V268I PITPNC1_ENST00000581322.1_Missense_Mutation_p.V268I|PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000580974.1_3'UTR Q9UKF7 PITC1_HUMAN phosphatidylinositol transfer protein, cytoplasmic 1 268 signal transduction cytoplasm lipid binding|phosphatidylinositol transporter activity|protein binding p.V268I(2) breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3) 17 all_cancers(12;3.03e-10) BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198) GCCTTCTTCCGTCCGCAGTGC 0.557000 102 15 0 0 1 0 0 PPOX 5498 broad.mit.edu 37 1 161138253 161138253 + Missense_Mutation SNP G G A rs41270025 TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr1:161138253G>A ENST00000367999.4 + 6 769 c.503G>A c.(502-504)cGt>cAt p.R168H PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.R168H|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron NM_001122764.1 NP_001116236.1 P50336 PPOX_HUMAN protoporphyrinogen oxidase 168 R -> C. heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3) 15 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) AGTCTCTGCCGTGGAGTGTTT 0.512000 65 69 0 0 1 0 0 PRAM1 84106 broad.mit.edu 37 19 8564555 8564555 + Missense_Mutation SNP T T A TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr19:8564555T>A ENST00000423345.4 - 2 657 c.137A>T c.(136-138)aAg>aTg p.K46M PRAM1_ENST00000255612.3_Missense_Mutation_p.K46M Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 46 Pro-rich. lipid binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 CTGGGAGAACTTCTTCAGTTT 0.592000 21 133 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579591 7579591 + Splice_Site SNP C C G TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr17:7579591C>G ENST00000420246.2 - 4 229 c.e4-1 TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 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.?(8)|p.0?(8)|p.L35fs*10(3)|p.S33fs*10(1)|p.P13fs*18(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) GCAAGGGGGACTGTAGATGGG 0.592000 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) 54 18 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 3 14 0.115264 0.115264 1 1 0 GPR128 84873 broad.mit.edu 37 3 100364805 100364805 + Silent SNP C C T TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr3:100364805C>T ENST00000273352.3 + 9 1231 c.963C>T c.(961-963)tgC>tgT p.C321C GPR128_ENST00000475887.1_Silent_p.C26C NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 321 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 CCAAGACATGCGGCTTTGTAG 0.308000 13 20 0 0 1 0 0 PROS1 5627 broad.mit.edu 37 3 93603724 93603724 + Missense_Mutation SNP T T C TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr3:93603724T>C ENST00000394236.3 - 12 1656 c.1340A>G c.(1339-1341)gAt>gGt p.D447G PROS1_ENST00000407433.1_Missense_Mutation_p.D316G NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 447 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TATACATCCATCTAGACGAGG 0.343000 10 27 0 0 1 0 0 FNDC3A 22862 broad.mit.edu 37 13 49772644 49772644 + Missense_Mutation SNP G G T TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr13:49772644G>T ENST00000492622.2 + 23 3226 c.2921G>T c.(2920-2922)gGa>gTa p.G974V FNDC3A_ENST00000541916.1_Missense_Mutation_p.G974V|FNDC3A_ENST00000398316.3_Missense_Mutation_p.G918V NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 974 Fibronectin type-III 8. Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) TGGGGAGAAGGAACTCCAAAG 0.403000 21 50 1.87028e-06 1.96226e-06 1 1 0 ESPNP 0 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 9 3 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145109975 145109976 + RNA INS - - C rs67257307 TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr1:145109975_145109976insC ENST00000453618.1 + 0 673 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding CAGGAACTTTGCTAAAGATCTA 0.386 3 3 --- --- --- --- AC019118.2 0 broad.mit.edu 37 2 2910722 2910723 + RNA INS - - T TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr2:2910722_2910723insT ENST00000457478.1 - 0 594 tccaccccctctccccagccca 0.708 7 7 --- --- --- --- RP11-262H14.1 0 broad.mit.edu 37 9 66463991 66463992 + RNA DEL TT TT - rs3068011 TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr9:66463991_66463992delTT ENST00000424345.1 + 0 224 AGCCATTCTCTTTTCATTCCCC 0.446 2 4 --- --- --- --- KTN1-AS1 0 broad.mit.edu 37 14 56014174 56014174 + RNA DEL G G - rs72015246 TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr14:56014174delG ENST00000554558.1 - 0 364 aaaaaaaaaagaaTTGGCACA 0.443 5 11 --- --- --- --- RP5-991G20.1 0 broad.mit.edu 37 16 72763869 72763869 + RNA DEL A A - TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr16:72763869delA ENST00000563328.2 + 0 164 GGTCCAAAACAAAAAAAAAAA 0.433 3 5 --- --- --- --- RP11-757O6.1 0 broad.mit.edu 37 18 14249606 14249609 + RNA DEL ATAT ATAT - TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr18:14249606_14249609delATAT ENST00000580200.1 + 0 271 TTCTCATAAAATATATAACATTAC 0.216 2 4 --- --- --- --- DSN1 79980 broad.mit.edu 37 20 35399395 35399409 + In_Frame_Del DEL TGAAGGGACTTCGAC TGAAGGGACTTCGAC - TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr20:35399395_35399409delTGAAGGGACTTCGAC ENST00000426836.1 - 3 594_608 c.222_236delGTCGAAGTCCCTTCA c.(220-237)cat>ca p.QSKSLH74del DSN1_ENST00000373734.4_Intron|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000473615.1_Intron|DSN1_ENST00000373745.3_In_Frame_Del_p.QSKSLH74del|DSN1_ENST00000373750.4_In_Frame_Del_p.QSKSLH74del|DSN1_ENST00000448110.1_In_Frame_Del_p.QSKSLH58del NM_001145316.1 NP_001138788.1 Q9H410 DSN1_HUMAN DSN1, MIS12 kinetochore complex component 74 cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 16 Myeloproliferative disorder(115;0.00874) AGGAGACAAATGAAGGGACTTCGACTGAAGTCTTT 0.498 45 141 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11071214 11071215 + RNA INS - - C rs113940337 TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chr21:11071214_11071215insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gcagaccaattagggcttcagg 0.406 2 4 --- --- --- --- FANCB 2187 broad.mit.edu 37 X 14862842 14862843 + Frame_Shift_Ins INS - - A TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chrX:14862842_14862843insA ENST00000398334.1 - 9 2214_2215 c.1947_1948insT c.(1945-1950)ttcactfs p.T650fs FANCB_ENST00000324138.3_Frame_Shift_Ins_p.T650fs NM_001018113.1 NP_001018123.1 Q8NB91 FANCB_HUMAN Fanconi anemia, complementation group B 650 DNA repair nucleoplasm NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) GCAAGAAGTGCAAAAAGATCTT 0.347 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 16 87 --- --- --- --- USP9X 8239 broad.mit.edu 37 X 41055894 41055895 + Frame_Shift_Ins INS - - A TCGA-N9-A4Q3-01A-11D-A28R-08 TCGA-N9-A4Q3-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5063826c-65ef-461a-af85-577824a4bd4e 41b977af-1f55-410f-8858-f88c7c739a3f g.chrX:41055894_41055895insA ENST00000324545.7 + 28 4769_4770 c.4136_4137insA c.(4135-4137)tagfs p.*1379fs USP9X_ENST00000378308.2_Frame_Shift_Ins_p.*1379fs NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 1379 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 TTTACTCTTTTAAGACACCTTC 0.347 14 42 --- --- --- ---